FHC0001 commonName g. 5256G>A
FHC0001 protEffect E258K
FHC0001 funChange phosphorylation site disrupted or titin and myosin binding sites may be lost
FHC0002 commonName g. 5254A>C
FHC0002 protEffect H257P
FHC0002 funChange net charge substitution +1 to 0
FHC0003 commonName g. 5824 g>t
FHC0003 funChange phosphorylation site truncated; loss of titin and myosin binding sites
FHC0004 commonName g. 5166G>A
FHC0004 protEffect D228N
FHC0004 funChange net charge substitution -1 to 0; muscle contractile regulation region possibly related to the myosin regulatory light chain
FHC0005 commonName g. 5824g>a
FHC0005 funChange phosphorylation site truncated; loss of titin and myosin binding sites
FHC0006 commonName g. 5828g>a
FHC0006 funChange loss of phosphorylation site, titin and myosin binding sites
FHC0007 commonName g. 6011G>A
FHC0007 protEffect G278E
FHC0007 funChange net charge substitution 0 to -1
FHC0008 commonName g. 6014G>C
FHC0008 protEffect G279A
FHC0008 funChange neutral charge substitution
FHC0010 commonName g. 7308a>g
FHC0010 funChange phosphorylation site truncated; loss of titin and myosin binding sites
FHC0012 commonName g. 7360G>A
FHC0012 protEffect R326Q
FHC0012 funChange net charge substitution +1 to 0
FHC0015 commonName g. 7438T>C
FHC0015 protEffect L352P
FHC0015 funChange neutral charge substitution
FHC0016 commonName g. 10385a>g
FHC0016 funChange loss of function
FHC0017 commonName g. 10512-10513del
FHC0017 funChange loss of function
FHC0018 commonName g. 10587delT
FHC0018 funChange loss of function
FHC0019 commonName g. 10618delC
FHC0019 funChange loss of function
FHC0020 commonName g. 10628G>C
FHC0020 protEffect E451Q
FHC0020 funChange loss of titin and myosin binding sites
FHC0022 commonName g. 10732 C>T
FHC0022 protEffect T457M
FHC0022 funChange neutral charge substitution
FHC0025 commonName g. 10931G>A
FHC0025 protEffect R495Q
FHC0025 funChange protein phosphorylation may be affected
FHC0026 commonName g. 10951C>T
FHC0026 protEffect R502W
FHC0026 funChange net charge substitution +1 to 0
FHC0027 commonName g. 10952G>A
FHC0027 protEffect R502Q
FHC0027 funChange protein phosphorylation may be affected
FHC0028 commonName g. 10957-10959del
FHC0028 protEffect K504del
FHC0028 funChange unknown
FHC0029 commonName g. 11071G>C
FHC0029 protEffect E542Q
FHC0029 funChange loss of titin and myosin binding sites
FHC0030 commonName g. 11047-11048del
FHC0030 funChange loss of function
FHC0032 commonName g. 11073t>c
FHC0032 funChange loss of function
FHC0035 commonName g. 11645delT
FHC0035 protEffect delta593S
FHC0035 funChange loss of titin and myosin binding sites
FHC0038 commonName g. 12413delA
FHC0038 funChange loss of function
FHC0040 commonName g. 13858a>g
FHC0040 funChange loss of titin and myosin binding sites
FHC0045 commonName g. 13893G>A
FHC0045 protEffect R654H
FHC0045 funChange may disrupt the binding of Ca2+/calmodulin kinase to myosin binding protein C
FHC0048 commonName g. 13980G>A
FHC0048 protEffect W683X
FHC0048 funChange loss of function
FHC0050 commonName g. 14271delC
FHC0050 protEffect delta698C
FHC0050 funChange loss of titin and myosin binding sites
FHC0053 commonName g. 15042-15063dupl
FHC0053 funChange loss of function
FHC0055 commonName g. 15087C>A
FHC0055 protEffect N755K
FHC0055 funChange conformation of C5 domain disrupted
FHC0060 commonName g. 15829a>g
FHC0060 funChange loss of titin and myosin binding sites (870aa) or C6 domain truncated (1239aa)
FHC0061 commonName g. 15131g>t
FHC0061 funChange loss of titin and myosin binding sites
FHC0062 commonName g. 15131g>a
FHC0062 funChange loss of titin and myosin binding sites
FHC0063 commonName g. 15088delC
FHC0063 protEffect delta756C
FHC0063 funChange loss of titin and myosin binding sites
FHC0065 commonName g. 15919insG
FHC0065 funChange loss of titin and myosin binding sites
FHC0066 commonName g. 16085 G>A
FHC0066 protEffect R810H
FHC0066 funChange neutral charge substitution; located in the fibronectin type-3 domain (C6)
FHC0067 commonName g. 16088A>G
FHC0067 protEffect K811R
FHC0067 funChange neutral charge substitution
FHC0068 commonName g. 16154C>T
FHC0068 protEffect A833V
FHC0068 funChange neutral charge substitution
FHC0069 commonName g. 16189-16193del
FHC0069 funChange loss of function
FHC0070 commonName g. 16190-16194del
FHC0070 funChange loss of titin and myosin binding sites
FHC0071 commonName g. 16234-16247dupl
FHC0071 funChange loss of titin and myosin binding sites
FHC0072 commonName g. 16212delC
FHC0072 funChange loss of function
FHC0073 commonName g. 17721G>A
FHC0073 protEffect V896M
FHC0073 funChange neutral charge substitution
FHC0074 commonName g. 17773-17774delgt
FHC0074 funChange loss of function
FHC0075 commonName g. 17721G>A
FHC0075 protEffect V896M
FHC0075 funChange neutral charge substitution
FHC0076 commonName g. 18566-18567del
FHC0076 funChange loss of titin and myosin binding sites
FHC0077 commonName g. 18607C>T
FHC0077 protEffect Q969X
FHC0077 funChange loss of titin and myosin binding sites
FHC0078 commonName g. 18608g>a
FHC0078 funChange may result in additional residues and loss of wild-type residues
FHC0079 commonName g. 18535-18536del
FHC0079 funChange loss of titin and myosin binding sites
FHC0080 commonName g. 20025^20026ins
FHC0080 funChange loss of titin and myosin binding sites
FHC0081 commonName g. 19935 C>T
FHC0081 protEffect Q1012X
FHC0081 funChange loss of titin and myosin binding sites
FHC0082 commonName g. 20082 C>T
FHC0082 protEffect Q1061X
FHC0082 funChange loss of titin and myosin binding sites
FHC0083 commonName g. 20096 g>a
FHC0083 funChange loss of titin and myosin binding sites
FHC0084 commonName g. 20410G>T
FHC0084 protEffect E1096X
FHC0084 funChange loss of function
FHC0085 commonName g. 20459g>c
FHC0085 funChange loss of titin and myosin binding sites
FHC0086 commonName g. 20456 t>g
FHC0086 funChange loss of titin and myosin binding sites
FHC0090 commonName g. 20835g>a
FHC0090 funChange loss of titin and myosin binding sites; truncated protein undetected by Western blotting
FHC0091 commonName g. 21034G>A
FHC0091 protEffect A1194T
FHC0091 funChange neutral charge substitution
FHC0092 commonName g. 21059delG
FHC0092 funChange loss of function
FHC0093 commonName g. 21524G>A
FHC0093 protEffect A1255T
FHC0093 funChange neutral charge substitution
FHC0094 commonName g. 21082g>a
FHC0094 funChange loss of myosin-binding site
FHC0095 commonName g. [21420^21421ins21404-21415; 21420-21423del]
FHC0095 funChange partial loss of myosin binding site
FHC0096 commonName g. 21458 C>T
FHC0096 protEffect Q1233X
FHC0096 funChange loss of titin and myosin binding sites
FHC0097 commonName g. 21520^21521ins21503-21520
FHC0097 protEffect 1253^1254insGGIYVC
FHC0097 funChange conformation of myosin binding site disrupted
FHC0098 commonName g. 4421-4423del
FHC0098 protEffect Gdel10
FHC0098 funChange unknown
FHC0099 commonName g. 4470C>T
FHC0099 protEffect A26V
FHC0099 funChange neutral charge substitution; located in the globular head domain
FHC0101 commonName g. 4568G>A
FHC0101 protEffect V59I
FHC0101 funChange neutral charge substitution
FHC0102 commonName g. 5353C>T
FHC0102 protEffect T124I
FHC0102 funChange neutral charge substitution; located in the ATP-binding site
FHC0103 commonName g. 5410G>A
FHC0103 protEffect R143Q
FHC0103 funChange net charge substitution +1 to 0; located in the ATP-binding site
FHC0104 commonName g. 5467A>G
FHC0104 protEffect Y162C
FHC0104 funChange neutral charge substitution; located at the end of the ATP-binding site
FHC0105 commonName g. 6283G>C
FHC0105 protEffect R190T
FHC0105 funChange net charge substitution in the F-helix in close proximity to the phosphate binding P-loop; located in the ATP-binding region of the myosin head;
FHC0106 commonName g. 6275C>G
FHC0106 protEffect N187K
FHC0106 funChange net charge substitution 0 to +1; located in the ATP-binding site
FHC0107 commonName g. 6277C>A
FHC0107 protEffect T188N
FHC0107 funChange neutral charge substitution; regulatory light chain and ATP binding domains
FHC0108 commonName g. 6491A>G
FHC0108 protEffect N232S
FHC0108 funChange neutral charge substitution; located in the ATP-binding site; ATPase activity affected
FHC0109 commonName g. 6460C>A
FHC0109 protEffect Q222K
FHC0109 funChange net charge substitution 0 to +1; located in the distal end of the ATP-binding site
FHC0111 commonName g. 6643G>A
FHC0111 protEffect R249Q
FHC0111 funChange net charge substitution +1 to 0; may alter globular head conformation
FHC0112 commonName g. 6664G>A
FHC0112 protEffect G256E
FHC0112 funChange net charge substitution -1 to 0; located in outer end of the ATP-binding site; contractile properties indistinguishable from normal myofibres
FHC0113 commonName g. 6633A>C
FHC0113 protEffect K246Q
FHC0113 funChange net charge substitution +1 to 0
FHC0114 commonName g. 6685T>C
FHC0114 protEffect I263T
FHC0114 funChange unknown; located in the ATP-binding site
FHC0115 commonName g. 7543G>C
FHC0115 protEffect A326P
FHC0115 funChange neutral charge substitution
FHC0116 commonName g. [8808C>G;8810G>T]
FHC0116 protEffect L390V
FHC0116 funChange neutral charge substitution
FHC0117 commonName g. 8848G>A
FHC0117 protEffect R403Q
FHC0117 funChange net charge substitution +1 to 0; located in the actin-binding site; may affect actin-myosin interaction;[mouse model] hyperdynamic contraction, increased end-systolic chamber stiffness
FHC0118 commonName g. 8847C>T
FHC0118 protEffect R403W
FHC0118 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction
FHC0119 commonName g. 8848G>T
FHC0119 protEffect R403L
FHC0119 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction
FHC0120 commonName g. 8789G>T
FHC0120 protEffect K383N
FHC0120 funChange net charge substitution +1 to 0
FHC0121 commonName g. 9123C>T
FHC0121 protEffect R453C
FHC0121 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site
FHC0123 commonName g. 9585T>G
FHC0123 protEffect F513C
FHC0123 funChange neutral charge substitution; located in the head-rod junction
FHC0124 commonName g. 10391G>C
FHC0124 protEffect G584R
FHC0124 funChange net charge substitution 0 to +1; located in the head-rod junction; may alter; may affect the contractile property of the protein
FHC0125 commonName g. 10401A>T
FHC0125 protEffect D587V
FHC0125 funChange net charge substitution -1 to 0
FHC0126 commonName g. 10446A>G
FHC0126 protEffect N602S
FHC0126 funChange neutral charge substitution
FHC0127 commonName g. 10442C>G
FHC0127 protEffect L601V
FHC0127 funChange neutral charge substitution
FHC0130 commonName V606L
FHC0130 protEffect p.V606L
FHC0130 funChange rod region
FHC0131 commonName g. 9542G>A
FHC0131 protEffect E499K
FHC0131 funChange net charge substitution 0 to +1
FHC0132 commonName g. 10457G>A
FHC0132 protEffect V606M
FHC0132 funChange neutral charge subsititution; located in the actin-binding site
FHC0134 commonName g. 10486G>C
FHC0134 protEffect K615N
FHC0134 funChange net charge substitution +1 to 0; located in the actin-binding domain
FHC0135 commonName g. 11271G>A
FHC0135 protEffect M659I
FHC0135 funChange neutral charge substitution
FHC0136 commonName g. 11281C>T
FHC0136 protEffect R663C
FHC0136 funChange net charge substitution +1 to 0; located in the actin-binding site
FHC0137 commonName g. 11282G>A
FHC0137 protEffect R663H
FHC0137 funChange neutral charge substitution; located in the actin-binding site
FHC0138 commonName g. 11281C>A
FHC0138 protEffect R663S
FHC0138 funChange net charge substitution +1 to 0
FHC0139 commonName g. 11306G>T
FHC0139 protEffect R671C
FHC0139 funChange net charge substitution +1 to 0
FHC0140 commonName g. 12072C>T
FHC0140 protEffect R694C
FHC0140 funChange reactive cysteines
FHC0141 commonName g. 12079A>G
FHC0141 protEffect N696S
FHC0141 funChange neutral charge substitution; located within the region containing actin- and ATP-binding sites
FHC0143 commonName g. 12127G>T
FHC0143 protEffect R712L
FHC0143 funChange unknown
FHC0144 commonName g. 12138G>A
FHC0144 protEffect G716R
FHC0144 funChange net charge subsitution 0 to +1; located in the light chain-binding site
FHC0146 commonName g. 12147C>T
FHC0146 protEffect R719W
FHC0146 funChange net charge substitution +1 to 0; located in the light chain-binding site
FHC0147 commonName g. 12148G>A
FHC0147 protEffect R719Q
FHC0147 funChange net charge substitution +1 to 0; located in the light chain-binding site
FHC0150 commonName g. 12307C>T
FHC0150 protEffect R723C
FHC0150 funChange net charge substitution +1 to 0; located in the light chain-binding site
FHC0151 commonName g. 12307C>G
FHC0151 protEffect R723G
FHC0151 funChange net charge substitution +1 to 0; located in the light chain-binding site
FHC0153 commonName g. 12332C>T
FHC0153 protEffect P731L
FHC0153 funChange neutral charge substitution; located in the light chain-binding site
FHC0154 commonName g. 12338G>A
FHC0154 protEffect G733E
FHC0154 funChange net charge substitution 0 to -1
FHC0155 commonName g. 12348T>G
FHC0155 protEffect I736M
FHC0155 funChange neutral charge substitution; located in the light chain-binding site
FHC0156 commonName g. 12340 C>G
FHC0156 protEffect Q734E
FHC0156 funChange net charge substitution 0 to -1; located close to MYL3 interface; may affect mechano-chemical coupling during contraction
FHC0157 commonName g. 12361G>C
FHC0157 protEffect G741R
FHC0157 funChange net charge substitution 0 to +1; located in the light chain-binding site
FHC0158 commonName g. 12361G>T
FHC0158 protEffect G741W
FHC0158 funChange neutral charge substitution; located in the light chain-binding site
FHC0159 commonName g. 12361G>A
FHC0159 protEffect G741R
FHC0159 funChange net charge substitution 0 to +1; located in the light chain-binding site
FHC0160 commonName g. 12362G>C
FHC0160 protEffect G741A
FHC0160 funChange neutral charge substitution; located in the light chain-binding site
FHC0161 commonName g. 12707G>A
FHC0161 protEffect G768R
FHC0161 funChange net charge substitution 0 to +1
FHC0163 commonName g. 19227G>A
FHC0163 protEffect A1379T
FHC0163 funChange altering interaction of the light meromyosin with other sarcomeric proteins
FHC0164 commonName g. 22240A>G
FHC0164 protEffect S1775G
FHC0164 funChange disrupting the coiled-coil structure of the light meromyosin
FHC0165 commonName g. 13198G>A
FHC0165 protEffect E846K
FHC0165 funChange net charge substitution -1 to +1
FHC0167 commonName g. 12738A>G
FHC0167 protEffect D778G
FHC0167 funChange net charge substitution -1 to 0; located in the light chain-binding site; may affect actin-binding
FHC0168 commonName g. 12739C>G
FHC0168 protEffect D778E
FHC0168 funChange neutral charge substitution; light chain binding region
FHC0169 commonName g. 12750G>A
FHC0169 protEffect S782N
FHC0169 funChange neutral charge substitution; located in the light chain-binding site; may affect actin-binding
FHC0170 commonName g. 12765G>A
FHC0170 protEffect R787H
FHC0170 funChange neutral charge substitution
FHC0171 commonName g. 12794G>A
FHC0171 protEffect A797T
FHC0171 funChange neutral charge substitution; located in the light chain-binding domain
FHC0173 commonName g. 13198G>C
FHC0173 protEffect E846Q
FHC0173 funChange rod region
FHC0174 commonName g. 13267C>T
FHC0174 protEffect R869C
FHC0174 funChange net charge substitution +1 to 0; located in the rod
FHC0175 commonName g. 13271G>A
FHC0175 protEffect R870H
FHC0175 funChange neutral charge substitution; located in the rod
FHC0176 commonName g. 13270C>T
FHC0176 protEffect R870C
FHC0176 funChange net charge substitution +1 to 0; located in the rod
FHC0177 commonName g. 13217T>C
FHC0177 protEffect M852T
FHC0177 funChange neutral charge substitution
FHC0178 commonName g. 13267C>G
FHC0178 protEffect R869G
FHC0178 funChange net charge substitution +1 to 0
FHC0179 commonName g. 13292T>A
FHC0179 protEffect M877K
FHC0179 funChange net charge substitution 0 to +1; located in the rod
FHC0180 commonName g. 13309-13311del
FHC0180 protEffect Edel883
FHC0180 funChange S2 domain
FHC0181 commonName g. 13968 A>G
FHC0181 protEffect E894G
FHC0181 funChange net charge substitution -1 to 0
FHC0182 commonName g. 14009C>G
FHC0182 protEffect L908V
FHC0182 funChange neutral charge substitution; located in the rod; may affect actin-binding
FHC0183 commonName g. 14057G>A
FHC0183 protEffect E924K
FHC0183 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments
FHC0184 commonName g. 14066 G>A
FHC0184 protEffect E927K
FHC0184 funChange net charge substitution -1 to +1
FHC0185 commonName g. 14075-14077del
FHC0185 protEffect Edel930
FHC0185 funChange unknown; located in the rod
FHC0186 commonName g. 14075G>A
FHC0186 protEffect E930K
FHC0186 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments
FHC0188 commonName g. 14090G>A
FHC0188 protEffect E935K
FHC0188 funChange net charge substitution -1 to +1; located in the head-rod junction; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments
FHC0190 commonName g. 14132G>A
FHC0190 protEffect E949K
FHC0190 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments
FHC0191 commonName g. 14169T>G
FHC0191 protEffect L961R
FHC0191 funChange net charge substitution 0 to +1; located in the rod
FHC0192 commonName g. 23793-26171del
FHC0192 funChange unknown
FHC0194 commonName g. 8856G>A
FHC0194 protEffect V406M
FHC0194 funChange neutral charge substitution; located in the actin-binding site
FHC0196 commonName g. 9124G>A
FHC0196 protEffect R453H
FHC0196 funChange neutral charge substitution; located in outer end of the ATP-binding site
FHC0197 commonName g. 9124G>T
FHC0197 protEffect R453L
FHC0197 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site
FHC0198 commonName g. 9049C>T
FHC0198 protEffect A428V
FHC0198 funChange neutral charge substitution; actin binding domain
FHC0199 commonName g. 9094T>C
FHC0199 protEffect I443T
FHC0199 funChange neutral charge substitution; actin binding domain
FHC0201 commonName c. 67G>A
FHC0201 protEffect A13T
FHC0201 funChange may disrupt the phosphorylation site
FHC0202 commonName c. 82T>C
FHC0202 protEffect F18L
FHC0202 funChange may disrupt the phosphorylation site
FHC0203 commonName c. 94G>A
FHC0203 protEffect E22K
FHC0203 funChange may disrupt the phosphorylation site
FHC0206 commonName c. 171C>A
FHC0206 protEffect N47K
FHC0211 commonName c. 203G>A
FHC0211 protEffect R58Q
FHC0211 funChange Mg2+ binding site disrupted
FHC0214 commonName c. 314C>G
FHC0214 protEffect P95R
FHC0214 funChange may disrupt the phosphorylation site
FHC0230 commonName c. 527A>T
FHC0230 protEffect D166V
FHC0230 funChange net charge substitution -1 to 0
FHC0320 commonName c. 217A>G
FHC0320 protEffect E56G
FHC0320 funChange net charge substitution -1 to 0
FHC0330 commonName c. 495A>G
FHC0330 protEffect M149V
FHC0330 funChange increased actin translocation
FHC0335 commonName c. 511G>A
FHC0335 protEffect R154H
FHC0335 funChange increased actin translocation
FHC0392 commonName g. 4745 G>A
FHC0392 protEffect R162Q
FHC0392 funChange net charge subsitution +1 to 0; located in the troponin C binding site
FHC0393 commonName g. 4757 C>T
FHC0393 protEffect S166F
FHC0393 funChange neutral charge substitution; located in the troponin C binding site
FHC0394 commonName g. 4792 A>G
FHC0394 protEffect K178E
FHC0394 funChange net charge substitution +1 to -1
FHC0395 commonName g. 4807 A>G
FHC0395 protEffect K183E
FHC0395 funChange net charge substitution +1 to -1
FHC0400 commonName g. 2530G>T
FHC0400 protEffect K58N
FHC0400 funChange no change
FHC0402 commonName g. 2600 C>T
FHC0402 protEffect P82S
FHC0402 funChange neutral charge substitution
FHC0404 commonName g. 4683G>A
FHC0404 protEffect R141Q
FHC0404 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C
FHC0405 commonName g. 4693 C>T
FHC0405 protEffect R145W
FHC0405 funChange net charge substitution +1 to 0
FHC0406 commonName g. 4730C>T
FHC0406 protEffect A157V
FHC0406 funChange neutral charge substitution; First binding site to cardiac troponin C
FHC0407 commonName g. 4693C>G
FHC0407 protEffect R145G
FHC0407 funChange unknown
FHC0408 commonName g. 4694G>A
FHC0408 protEffect R145Q
FHC0408 funChange unknown
FHC0409 commonName g. 4744C>T
FHC0409 protEffect R162W
FHC0409 funChange unknown
FHC0410 commonName g. 4807-4809del
FHC0410 protEffect Kdel183
FHC0410 funChange unknown
FHC0411 commonName g. 4745G>C
FHC0411 protEffect R162P
FHC0411 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C
FHC0412 commonName g. 4789-4791del
FHC0412 protEffect K177del
FHC0412 funChange located in the first binding site to cardiac troponin C
FHC0413 commonName g. 6449G>A
FHC0413 protEffect R186Q
FHC0413 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C
FHC0414 commonName g. 6461 A>G
FHC0414 protEffect D190G
FHC0414 funChange net charge substitution -1 to 0
FHC0415 commonName g. 6467 G>A
FHC0415 protEffect R192H
FHC0415 funChange neutral charge substitution
FHC0416 commonName g. 6498G>A
FHC0416 protEffect D196N
FHC0416 funChange net charge substitution -1 to 0; first binding site to cardiac troponin C
FHC0418 commonName S199N
FHC0418 protEffect p.S199N
FHC0421 commonName g. 6499 G>C
FHC0421 protEffect G203R
FHC0421 funChange net charge subsitution 0 to +1
FHC0422 commonName g. 6499G>A
FHC0422 protEffect G203S
FHC0422 funChange unknown
FHC0423 commonName g. 6508A>C
FHC0423 protEffect K206Q
FHC0423 funChange unknown
FHC0546 commonName g.200T>C
FHC0546 protEffect F70L
FHC0546 funChange neutral charge substitution
FHC0547 commonName g. 239 G>A
FHC0547 protEffect E83K
FHC0547 funChange net charge substitution -1 to +1
FHC0548 commonName g. 249 A>C
FHC0548 protEffect D86A
FHC0548 funChange net charge substitution -1 to 0; located in the TPM1-binding region
FHC0549 commonName g. 228T>A
FHC0549 protEffect I79N
FHC0549 funChange net charge subsitution 0 to +1; [rabbit model] increased Ca2+ sensitivity of myofibril ATPase activity, no significant change in maximum ATPase activity, impaired inhibition of TNNT2 by TNNI3
FHC0550 commonName g. 119C>T
FHC0550 protEffect R92W
FHC0554 commonName g. 125 C>T
FHC0554 protEffect R94C
FHC0554 funChange net charge substitution +1 to 0
FHC0555 commonName g. 156C>T
FHC0555 protEffect A104V
FHC0565 commonName g. 161-163del
FHC0565 protEffect Edel160
FHC0565 funChange net charge loss -1
FHC0567 commonName g. 170-172del
FHC0567 protEffect E163del
FHC0571 commonName g. 113 A>G
FHC0571 protEffect K247R
FHC0571 funChange neutral charge substitution
FHC0573 commonName g.192A>T
FHC0573 protEffect N271I
FHC0573 funChange neutral charge substitution
FHC0581 commonName g. 81G>C
FHC0581 protEffect R278P
FHC0581 funChange not specified; mutation affects conserved residue
FHC0609 commonName c. 240 G>C
FHC0609 protEffect E62Q
FHC0609 funChange net charge subsitution -1 to 0; occurs at the f-position of the TPM1 heptad repeat
FHC0610 commonName c. 244C>T
FHC0610 protEffect A63V
FHC0610 funChange neutral charge substitution
FHC0611 commonName c. 265A>C
FHC0611 protEffect K70T
FHC0611 funChange net charge substitution +1 to 0
FHC0616 commonName c. 340T>C
FHC0616 protEffect V95A
FHC0616 funChange neutral charge substitution; increased calcium affinity
FHC0621 commonName c. 571 T>C
FHC0621 protEffect I172T
FHC0621 funChange neutral charge substitution
FHC0622 commonName c. 579G>A
FHC0622 protEffect D175N
FHC0622 funChange net charge substitution -1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity
FHC0623 commonName c. 595A>G
FHC0623 protEffect E180G
FHC0623 funChange net charge substitution -1 to 0
FHC0624 commonName c. 595A>T
FHC0624 protEffect E180V
FHC0624 funChange net charge substitution -1 to 0; Ca2+ dependent troponin T binding domain
FHC0625 commonName c. 610T>G
FHC0625 protEffect L185R
FHC0625 funChange net charge substitution 0 to +1; near troponin T binding domain
FHC0670 commonName c. 898 T>C
FHC0670 protEffect M281T
FHC0670 funChange neutral charge substitution; affect residues at the TPM1 dimer interface
FHC0690 commonName g. 281G>A
FHC0690 protEffect E101K(=E99K in the reference)
FHC0690 funChange net charge substitution -1 to +1; close opposition to the myosin head and forming an electrostatic 'weak' actomyosin binding site
FHC0695 commonName g.1146C>G
FHC0695 protEffect P166A(=P164A in the reference)
FHC0695 funChange neutral charge substitution; adjacent to an interaction region between actin monomers in the double helical actin filament
FHC0800 commonName c. 2221G>T
FHC0800 protEffect R740L
FHC0800 funChange located within the alpha-actinin binding site; [yeast model] increased affinity to alpha-actinin
FHC0904 commonName g. 2376-2382del
FHC0904 funChange loss of function
FHC0905 commonName g. 2377C>T
FHC0905 protEffect Q76X
FHC0905 funChange loss of function
FHC0955 commonName g. 16115 G>A
FHC0955 protEffect R820Q
FHC0955 funChange net charge substitution +1 to 0
FHC0960 commonName g. 17653 C>A
FHC0960 protEffect P873H
FHC0960 funChange net charge subsitution 0 to +1; located in the fibronectin type-3 domain (C7) required for integration of MYBPC3 into the thick filament
FHC0970 commonName g. 18509 C>T
FHC0970 protEffect T936M
FHC0970 funChange neutral charge substitution
FHC1010 commonName g.4508G>A
FHC1010 protEffect V39M
FHC1010 funChange neutral charge substitution; regulatory light chain and ATP binding domains
FHC1019 commonName g. 6300 G>A
FHC1019 protEffect A196T
FHC1019 funChange neutral charge substitution; located in the ATP-binding site
FHC1020 commonName g. 6325G>A
FHC1020 protEffect R204H
FHC1020 funChange neutral charge substitution; regulatory light chain and ATP binding domains
FHC1021 commonName g. 6346 C>T
FHC1021 protEffect P211L
FHC1021 funChange neutral charge substitution; located in the ATP-binding site
FHC1024 commonName g. 6475 C>G
FHC1024 protEffect L227V
FHC1024 funChange neutral charge substitution
FHC1025 commonName g. 7525 G>A
FHC1025 protEffect V320M
FHC1025 funChange neutral charge substitution
FHC1026 commonName g. 7550 A>G
FHC1026 protEffect E328G
FHC1026 funChange net charge substitution -1 to 0
FHC1028 commonName g. 8266 A>G
FHC1028 protEffect K351E
FHC1028 funChange net charge substitution +1 to -1
FHC1030 commonName g. 8278G>A
FHC1030 protEffect A355T
FHC1030 funChange neutral charge substitution
FHC1032 commonName g. 8850 G>T
FHC1032 protEffect V404L
FHC1032 funChange neutral charge substitution; located in the actin-binding site
FHC1034 commonName g. 8871 G>A
FHC1034 protEffect V411I
FHC1034 funChange neutral charge substitution; located in the ATP-binding site
FHC1036 commonName g. 9070 T>C
FHC1036 protEffect M435T
FHC1036 funChange neutral charge substitution
FHC1040 commonName g. 9483A>G
FHC1040 protEffect N479S
FHC1040 funChange neutral charge substitution; reactive thiols
FHC1042 commonName g. 9494G>A
FHC1042 protEffect E483K
FHC1042 funChange net charge substitution -1 to +1
FHC1044 commonName g. 9596 C>A
FHC1044 protEffect L517M
FHC1044 funChange neutral charge substitution; located close to reactive cysteine residues; may affect ATPase activity
FHC1050 commonName g. 13126 A>G
FHC1050 protEffect M822V
FHC1050 funChange neutral charge substitution
FHC1055 commonName g. 12726 A>T
FHC1055 protEffect E774V
FHC1055 funChange net charge subsitution -1 to 0; may affect interaction with actin
FHC1056 commonName g. 12740 G>T
FHC1056 protEffect E779X
FHC1056 funChange loss of function
FHC1060 commonName g. 17905T>G
FHC1060 protEffect L1135R
FHC1060 funChange net charge substitution 0 to +1; rod domain
FHC1062 commonName g. 18153G>C
FHC1062 protEffect E1218Q
FHC1062 funChange net charge substitution -1 to 0; rod domain
FHC1070 commonName g. 19222C>T
FHC1070 protEffect T1377M
FHC1070 funChange net charge substitution -1 to 0; rod domain
FHC1072 commonName g. 19227G>A
FHC1072 protEffect A1379T
FHC1072 funChange neutral charge substitution; rod domain
FHC1073 commonName g. 19236C>T
FHC1073 protEffect R1382W
FHC1073 funChange net charge substitution +1 to 0; rod domain
FHC1080 commonName g. 21752G>A
FHC1080 protEffect V1690M
FHC1080 funChange neutral charge substitution; rod domain
FHC1090 commonName g. 22243G>A
FHC1090 protEffect A1776T
FHC1090 funChange neutral charge substitution; rod domain
CFMDB_1185 commonName - 816delCTC
CFMDB_0 commonName - 816C- >T
CFMDB_1053 commonName - 363C/T
CFMDB_1517 commonName 40G/C
CFMDB_1109 commonName 48C/G
CFMDB_1107 commonName 99C/T
CFMDB_902 commonName 125G/C
CFMDB_955 commonName 129G/C
CFMDB_1365 commonName 124del23bp
CFMDB_3 commonName - 33G- >A
CFMDB_815 commonName - 94G- >T
CFMDB_901 commonName - 329A/G
CFMDB_1410 commonName - 461A- >G
CFMDB_5 protEffect p.Met1Val
CFMDB_5 commonName M1V
CFMDB_1694 protEffect p.Met1Leu
CFMDB_1694 commonName M1L
CFMDB_1551 commonName 107 G/A
CFMDB_2 commonName - 471delAGG
CFMDB_712 commonName - 102T- >A
CFMDB_1675 commonName - 589G/A
CFMDB_833 commonName - 790T9/8
CFMDB_1 commonName - 741T- >G
CFMDB_720 commonName - 834T/G
CFMDB_6 protEffect p.Met1Lys
CFMDB_6 commonName M1K
CFMDB_1186 protEffect p.Met1Thr
CFMDB_1186 commonName M1T
CFMDB_1910 protEffect p.Met1Arg
CFMDB_1328 commonName 135del120ins300
CFMDB_7 protEffect p.Met1Ile
CFMDB_7 commonName M1I(ATA)
CFMDB_8 protEffect p.Met1Ile
CFMDB_8 commonName M1I(ATT)
CFMDB_9 protEffect p.Gln2X
CFMDB_9 commonName Q2X (together with R3W)
CFMDB_10 protEffect p.Ser4X
CFMDB_10 commonName S4X
CFMDB_11 protEffect p.Pro5Leu
CFMDB_11 commonName P5L
CFMDB_1280 protEffect p.Glu7X
CFMDB_1280 commonName E7X
CFMDB_876 commonName 156G/A
CFMDB_872 protEffect p.Ser10Arg
CFMDB_872 commonName S10R
CFMDB_733 protEffect p.Val11Ile
CFMDB_733 commonName 163G/A
CFMDB_1800 protEffect p.Ser13IlefsX14
CFMDB_640 protEffect p.Ser13Phe
CFMDB_640 commonName S13F
CFMDB_12 protEffect p.Lys14X
CFMDB_12 commonName K14X
CFMDB_630 protEffect p.Lys14AsnfsX11
CFMDB_630 commonName 174delA
CFMDB_13 protEffect p.Leu15PhefsX10
CFMDB_13 commonName 175delC
CFMDB_14 protEffect p.Ser18GlnfsX27
CFMDB_14 commonName 175insT
CFMDB_1442 protEffect p.Leu15Pro
CFMDB_1442 commonName L15P
CFMDB_1705 protEffect p.Trp19AlafsX7
CFMDB_15 protEffect p.Phe17SerfsX8
CFMDB_15 commonName 182delT
CFMDB_1512 protEffect p.Ser18Gly
CFMDB_1512 commonName S18G
CFMDB_893 commonName 185+ 1G- >T
CFMDB_16 commonName 185+ 4A- >T
CFMDB_1032 commonName 185+ 45A- >G
CFMDB_1636 commonName CFTR- dele2
CFMDB_17 commonName 186- 13C- >G
CFMDB_18 protEffect p.Trp19Cys
CFMDB_18 commonName W19C
CFMDB_702 protEffect p.Trp19X
CFMDB_702 commonName W19X
CFMDB_1402 protEffect p.Leu24Phe
CFMDB_1402 commonName L24F
CFMDB_1894 protEffect p.Lys26Glu
CFMDB_1463 protEffect p.Gly27Arg
CFMDB_1463 commonName G27R(211G to C)
CFMDB_1419 protEffect p.Gly27Arg
CFMDB_1419 commonName G27R
CFMDB_20 protEffect p.Gly27X
CFMDB_20 commonName G27X
CFMDB_19 protEffect p.Gly27AspfsX64
CFMDB_19 commonName 211delG
CFMDB_21 protEffect p.Gly27Glu
CFMDB_21 commonName G27E
CFMDB_22 protEffect p.Gln30X
CFMDB_22 commonName Q30X
CFMDB_1001 protEffect p.Arg31Cys
CFMDB_1001 commonName 223C/T
CFMDB_860 protEffect p.Arg31Cys
CFMDB_860 commonName R31C
CFMDB_23 protEffect p.Arg31Leu
CFMDB_23 commonName R31L
CFMDB_1740 protEffect p.Leu32Pro
CFMDB_587 protEffect p.Leu34_Gln39del
CFMDB_587 commonName 232del18
CFMDB_24 protEffect p.Asp36ArgfsX9
CFMDB_24 commonName 237insA
CFMDB_1348 protEffect p.Asp36Asn
CFMDB_1348 commonName D36N
CFMDB_1778 protEffect p.Ile37Val
CFMDB_25 protEffect p.Tyr38ProfsX6
CFMDB_25 commonName 241delAT
CFMDB_703 protEffect p.Tyr38ProfsX6
CFMDB_703 commonName 244delTA
CFMDB_1875 protEffect p.Tyr38X
CFMDB_1875 commonName Y38X
CFMDB_26 protEffect p.Gln39X
CFMDB_26 commonName Q39X
CFMDB_27 protEffect p.Ser42Phe
CFMDB_27 commonName S42F
CFMDB_1002 protEffect p.Asp44Val
CFMDB_1002 commonName 263A/T
CFMDB_28 protEffect p.Asp44Gly
CFMDB_28 commonName D44G
CFMDB_29 protEffect p.Ala46Asp
CFMDB_29 commonName A46D
CFMDB_1840 protEffect p.Ala46Val
CFMDB_1840 commonName A46V
CFMDB_699 commonName 279A/G
CFMDB_874 protEffect p.Ser50Pro
CFMDB_874 commonName S50P
CFMDB_31 protEffect p.Ser50Tyr
CFMDB_31 commonName S50Y
CFMDB_32 protEffect p.Lys52AsnfsX39
CFMDB_32 commonName 284delA
CFMDB_690 protEffect p.Arg55AsnfsX39
CFMDB_690 commonName 295ins8
CFMDB_33 commonName 296+ 1G- >C
CFMDB_34 commonName 296+ 2T- >C
CFMDB_35 commonName 296+ 12T- >C
CFMDB_907 commonName 296+ 128G/C
CFMDB_1331 commonName 296+ 1G- >A
CFMDB_1494 protEffect p.Arg55Lys
CFMDB_1494 commonName R55K
CFMDB_1368 commonName 296+ 28A- >G
CFMDB_1336 commonName 296+ 2T- >A
CFMDB_1401 commonName 296+ 2T- >G
CFMDB_1130 commonName 296+ 1G- >T
CFMDB_647 commonName 296+ 9A- >T
CFMDB_971 commonName 296+ 3insT
CFMDB_1979 protEffect p.Tyr89ArgfsX4
CFMDB_904 commonName 297- 67A/C
CFMDB_1343 commonName 297- 55C/T
CFMDB_38 commonName 297- 3C- >T
CFMDB_850 commonName 297- 3C- >A
CFMDB_1555 commonName 297- 73 A/G
CFMDB_36 commonName 297- 28insA
CFMDB_1187 commonName 297- 12insA
CFMDB_1626 commonName 297- 45 A- >G
CFMDB_1052 commonName 297- 10T- >G
CFMDB_37 commonName 297- 2A- >G
CFMDB_892 commonName 297- 50A/G
CFMDB_1553 commonName 297- 57 G/T
CFMDB_624 protEffect p.Glu56Lys
CFMDB_624 commonName E56K
CFMDB_39 protEffect p.Glu56AspfsX35
CFMDB_39 commonName 300delA
CFMDB_731 protEffect p.Trp57Arg
CFMDB_731 commonName W57R
CFMDB_40 protEffect p.Trp57Gly
CFMDB_40 commonName W57G
CFMDB_41 protEffect p.Trp57X
CFMDB_41 commonName W57X(TAG)
CFMDB_1143 protEffect p.Trp57X
CFMDB_1143 commonName W57X(TGA)
CFMDB_625 protEffect p.Asp58Asn
CFMDB_625 commonName D58N
CFMDB_1119 protEffect p.Asp58Gly
CFMDB_1119 commonName D58G
CFMDB_43 protEffect p.Arg59LysfsX10
CFMDB_43 commonName 306insA
CFMDB_42 protEffect p.Asp58GlufsX32
CFMDB_42 commonName 306delTAGA
CFMDB_1123 protEffect p.Glu60Lys
CFMDB_1123 commonName E60K
CFMDB_44 protEffect p.Glu60X
CFMDB_44 commonName E60X
CFMDB_1465 protEffect p.Leu61Pro
CFMDB_1465 commonName L61P
CFMDB_1355 protEffect p.Lys64Glu
CFMDB_1355 commonName K64E
CFMDB_45 protEffect p.Asn66Ser
CFMDB_45 commonName N66S
CFMDB_46 protEffect p.Pro67Leu
CFMDB_46 commonName P67L
CFMDB_810 protEffect p.Lys68Glu
CFMDB_810 commonName K68E
CFMDB_47 protEffect p.Lys68Asn
CFMDB_47 commonName K68N
CFMDB_1717 protEffect p.Leu69Arg
CFMDB_1003 commonName 345T/C
CFMDB_1045 protEffect p.Ala72Thr
CFMDB_1045 commonName A72T
CFMDB_48 protEffect p.Leu73PhefsX18
CFMDB_48 commonName 347delC
CFMDB_648 protEffect p.Ala72Asp
CFMDB_648 commonName A72D
CFMDB_49 protEffect p.Arg74Trp
CFMDB_49 commonName R74W
CFMDB_1082 protEffect p.Arg74Gln
CFMDB_1082 commonName R74Q
CFMDB_50 protEffect p.Arg75X
CFMDB_50 commonName R75X
CFMDB_1004 protEffect p.Arg75Gln
CFMDB_1004 commonName R75Q
CFMDB_51 protEffect p.Arg75Leu
CFMDB_51 commonName R75L
CFMDB_52 protEffect p.Trp79LeufsX32
CFMDB_52 commonName 359insT
CFMDB_1715 protEffect p.Cys76Trp
CFMDB_1439 protEffect p.Trp79LeufsX32
CFMDB_1439 commonName 365- 366insT (W79fs)
CFMDB_805 protEffect p.Phe78SerfsX13
CFMDB_805 commonName 360delT
CFMDB_1334 protEffect p.Trp79LeufsX32
CFMDB_1334 commonName 360- 365insT
CFMDB_1781 protEffect p.Trp79GlyfsX12
CFMDB_53 protEffect p.Trp79Arg
CFMDB_53 commonName W79R
CFMDB_54 protEffect p.Trp79X
CFMDB_54 commonName W79X
CFMDB_1548 protEffect p.Met82Val
CFMDB_1548 commonName M82V
CFMDB_1335 protEffect p.Tyr84LeufsX27
CFMDB_1335 commonName 379- 381insT
CFMDB_1583 protEffect p.Tyr84His
CFMDB_1583 commonName Y84H
CFMDB_56 protEffect p.Gly85Val
CFMDB_56 commonName G85V
CFMDB_55 protEffect p.Gly85Glu
CFMDB_55 commonName G85E
CFMDB_58 protEffect p.Phe87Leu
CFMDB_58 commonName F87L
CFMDB_1728 protEffect p.Phe87Ile
CFMDB_1848 protEffect p.Phe87Ser
CFMDB_1848 commonName F87S
CFMDB_57 protEffect p.Leu88IlefsX22
CFMDB_57 commonName 394delTT
CFMDB_59 protEffect p.Leu88Ser
CFMDB_59 commonName L88S
CFMDB_61 protEffect p.Leu88X
CFMDB_61 commonName L88X(T- >G)
CFMDB_60 protEffect p.Leu88X
CFMDB_60 commonName L88X(T- >A)
CFMDB_1988 protEffect p.Leu88PhefsX21
CFMDB_1092 protEffect p.Tyr89Cys
CFMDB_1092 commonName Y89C
CFMDB_1133 protEffect p.Leu90Ser
CFMDB_1133 commonName L90S
CFMDB_62 protEffect p.Gly91Arg
CFMDB_62 commonName G91R
CFMDB_64 commonName 405+ 3A- >C
CFMDB_1826 commonName 405+ 10247C>T
CFMDB_1827 commonName 405+ 10255delC
CFMDB_63 commonName 405+ 1G- >A
CFMDB_840 commonName 405+ 42A/G
CFMDB_65 commonName 405+ 4A- >G
CFMDB_905 commonName 405+ 46G/T
CFMDB_1203 commonName 406- 13T/C
CFMDB_66 commonName 406- 10C- >G
CFMDB_67 commonName 406- 6T- >C
CFMDB_848 commonName 406- 3T- >C
CFMDB_68 commonName 406- 2A- >C
CFMDB_69 commonName 406- 1G- >C
CFMDB_70 commonName 406- 1G- >T
CFMDB_906 commonName 406- 112T/A
CFMDB_631 commonName 406- 2A- >G
CFMDB_1671 commonName 406- 82T/A
CFMDB_71 protEffect p.Glu92Lys
CFMDB_71 commonName E92K
CFMDB_72 protEffect p.Glu92X
CFMDB_72 commonName E92X
CFMDB_885 commonName 406- 1G- >A
CFMDB_1403 commonName 406- 5T- >G
CFMDB_1065 commonName 406- 83A/G
CFMDB_1422 protEffect p.Glu92Asp
CFMDB_1422 commonName E92D
CFMDB_1815 protEffect p.Val93Asp
CFMDB_636 protEffect p.Thr94GlnfsX11
CFMDB_636 commonName 412del7- >TA
CFMDB_1134 protEffect p.Ala96Glu
CFMDB_1134 commonName A96E
CFMDB_73 protEffect p.Gln98X
CFMDB_73 commonName Q98X
CFMDB_74 protEffect p.Gln98Arg
CFMDB_74 commonName Q98R
CFMDB_1214 protEffect p.Gln98Pro
CFMDB_1214 commonName Q98P
CFMDB_75 protEffect p.Pro99Leu
CFMDB_75 commonName P99L
CFMDB_1352 protEffect p.Leu101Ser
CFMDB_1352 commonName L101S
CFMDB_593 protEffect p.Leu101X
CFMDB_593 commonName L101X
CFMDB_76 protEffect p.Leu102ThrfsX9
CFMDB_76 commonName 435insA
CFMDB_1485 protEffect p.Leu102Arg
CFMDB_1485 commonName L102R
CFMDB_1254 protEffect p.Leu102Pro
CFMDB_1254 commonName L102P
CFMDB_77 protEffect p.Gly103X
CFMDB_77 commonName G103X
CFMDB_78 protEffect p.Arg104GlufsX3
CFMDB_78 commonName 441delA
CFMDB_79 protEffect p.Ile105SerfsX2
CFMDB_79 commonName 444delA
CFMDB_1108 protEffect p.Ile105Asn
CFMDB_1108 commonName I105N
CFMDB_735 protEffect p.Ala107X
CFMDB_735 commonName 451del8
CFMDB_1629 protEffect p.Ala107Gly
CFMDB_1629 commonName A107G
CFMDB_80 protEffect p.Ser108Phe
CFMDB_80 commonName S108F
CFMDB_891 protEffect p.Tyr109Asn
CFMDB_891 commonName Y109N
CFMDB_81 protEffect p.Tyr109GlyfsX4
CFMDB_81 commonName 457TAT- >G
CFMDB_1811 protEffect p.Tyr109His
CFMDB_82 protEffect p.Tyr109Cys
CFMDB_82 commonName Y109C
CFMDB_863 protEffect p.Tyr109X
CFMDB_863 commonName 458delAT
CFMDB_1342 protEffect p.Tyr109X
CFMDB_1342 commonName Y109X
CFMDB_1290 protEffect p.Asp110Asn
CFMDB_1290 commonName D110N
CFMDB_84 protEffect p.Asp110His
CFMDB_84 commonName D110H
CFMDB_1124 protEffect p.Asp110Tyr
CFMDB_1124 commonName D110Y
CFMDB_83 protEffect p.Asp110ThrfsX14
CFMDB_83 commonName 460delG
CFMDB_1097 protEffect p.Asp110Glu
CFMDB_1097 commonName D110E
CFMDB_696 protEffect p.Pro111Ala
CFMDB_696 commonName P111A
CFMDB_85 protEffect p.Pro111Leu
CFMDB_85 commonName P111L
CFMDB_1062 commonName 465G/A
CFMDB_1630 protEffect p.Asn113Ile
CFMDB_1630 commonName N113I
CFMDB_1416 protEffect p.Lys114X
CFMDB_1416 commonName K114X
CFMDB_86 protEffect p.Glu115del
CFMDB_86 commonName [delta]E115
CFMDB_1116 protEffect p.Glu116Gln
CFMDB_1116 commonName E116Q
CFMDB_87 protEffect p.Glu116Lys
CFMDB_87 commonName E116K
CFMDB_88 protEffect p.Arg117Cys
CFMDB_88 commonName R117C
CFMDB_1464 protEffect p.Arg117Gly
CFMDB_1464 commonName R117G
CFMDB_89 protEffect p.Arg117His
CFMDB_89 commonName R117H
CFMDB_90 protEffect p.Arg117Pro
CFMDB_90 commonName R117P
CFMDB_91 protEffect p.Arg117Leu
CFMDB_91 commonName R117L
CFMDB_1231 protEffect p.Ile119Val
CFMDB_1231 commonName I119V
CFMDB_1423 protEffect p.Ile119MetfsX5
CFMDB_1423 commonName 489delC
CFMDB_1552 commonName 489 C/T
CFMDB_92 protEffect p.Ala120Thr
CFMDB_92 commonName A120T
CFMDB_1278 protEffect p.Ala120Val
CFMDB_1278 commonName A120V
CFMDB_1005 commonName 492G/A
CFMDB_1495 protEffect p.Tyr122His
CFMDB_1495 commonName Y122H
CFMDB_1624 protEffect p.Tyr122Cys
CFMDB_1624 commonName Y122C
CFMDB_93 protEffect p.Tyr122X
CFMDB_93 commonName Y122X
CFMDB_1850 protEffect p.Gly124Arg
CFMDB_1850 commonName G124R
CFMDB_882 protEffect p.Ile125Thr
CFMDB_882 commonName I125T
CFMDB_1729 protEffect p.Gly126Ser
CFMDB_94 protEffect p.Gly126Asp
CFMDB_94 commonName G126D
CFMDB_1864 protEffect p.Leu127dup
CFMDB_1864 commonName L127dup
CFMDB_95 protEffect p.Leu127X
CFMDB_95 commonName L127X
CFMDB_1805 protEffect p.Cys128Arg
CFMDB_1447 protEffect p.Leu130SerfsX?
CFMDB_1447 commonName 519delT
CFMDB_1693 protEffect p.Leu130Val
CFMDB_1693 commonName L130V
CFMDB_857 protEffect p.Phe131LeufsX3
CFMDB_857 commonName 525delT
CFMDB_739 protEffect p.Ile132Met
CFMDB_739 commonName I132M
CFMDB_1877 protEffect p.Leu136HisfsX18
CFMDB_96 protEffect p.Leu137SerfsX16
CFMDB_96 commonName 541delC
CFMDB_97 protEffect p.Leu137TyrfsX15
CFMDB_97 commonName 541del4
CFMDB_649 protEffect p.Leu137Pro
CFMDB_649 commonName L137P
CFMDB_611 protEffect p.Leu137His
CFMDB_611 commonName L137H
CFMDB_732 protEffect p.Leu137Arg
CFMDB_732 commonName L137R
CFMDB_626 protEffect p.Leu137_Leu138insThr
CFMDB_626 commonName L138ins
CFMDB_1006 protEffect p.Leu138Pro
CFMDB_1006 commonName 545T/C
CFMDB_1118 protEffect p.Leu139X
CFMDB_1118 commonName 546insCTA
CFMDB_650 protEffect p.His139LeufsX15
CFMDB_650 commonName 547insTA
CFMDB_1589 protEffect p.His139ArgfsX15
CFMDB_1589 commonName 547insGA
CFMDB_1217 protEffect p.His139Leu
CFMDB_1217 commonName H139L
CFMDB_98 protEffect p.His139Arg
CFMDB_98 commonName H139R
CFMDB_711 commonName 549C/T
CFMDB_99 protEffect p.Pro140Ser
CFMDB_99 commonName P140S
CFMDB_802 protEffect p.Pro140Leu
CFMDB_802 commonName P140L
CFMDB_100 protEffect p.Ala141SerfsX18
CFMDB_100 commonName 552insA
CFMDB_101 protEffect p.Ala141Asp
CFMDB_101 commonName A141D
CFMDB_102 protEffect p.Ile142PhefsX11
CFMDB_102 commonName 556delA
CFMDB_103 protEffect p.Phe143LeufsX10
CFMDB_103 commonName 557delT
CFMDB_600 protEffect p.Leu145PhefsX8
CFMDB_600 commonName 565delC
CFMDB_1473 protEffect p.Leu145His
CFMDB_1473 commonName L145H
CFMDB_651 protEffect p.His146Arg
CFMDB_651 commonName H146R
CFMDB_1774 protEffect p.Ile148Phe
CFMDB_104 protEffect p.Ile148LeufsX5
CFMDB_104 commonName 574delA
CFMDB_601 protEffect p.Ile148Asn
CFMDB_601 commonName I148N
CFMDB_105 protEffect p.Ile148Thr
CFMDB_105 commonName I148T
CFMDB_1295 protEffect p.Leu149ins
CFMDB_1295 commonName 576insCTA
CFMDB_106 protEffect p.Gly149Arg
CFMDB_106 commonName G149R
CFMDB_1806 protEffect p.Gly149X
CFMDB_1521 protEffect p.Gly149Val
CFMDB_1521 commonName G149V
CFMDB_1424 protEffect p.Gln151Lys
CFMDB_1424 commonName Q151K
CFMDB_107 protEffect p.Gln151X
CFMDB_107 commonName Q151X
CFMDB_108 protEffect p.Met152Val
CFMDB_108 commonName M152V
CFMDB_1524 protEffect p.Met152Leu
CFMDB_1524 commonName M152L
CFMDB_979 protEffect p.Met152Arg
CFMDB_979 commonName M152R
CFMDB_109 protEffect p.Ala155_Ile160del
CFMDB_109 commonName 591del18
CFMDB_843 protEffect p.Ala155Pro
CFMDB_843 commonName A155P
CFMDB_1731 protEffect p.Phe157Tyr
CFMDB_1188 protEffect p.Ser158Arg
CFMDB_1188 commonName S158R
CFMDB_1989 protEffect p.Ser158LysfsX5
CFMDB_1644 protEffect p.Ser158Asn
CFMDB_1644 commonName S158N
CFMDB_1613 protEffect p.Ser158Thr
CFMDB_1613 commonName S158T
CFMDB_1723 protEffect p.Ser158Asn
CFMDB_110 protEffect p.Leu159PhefsX4
CFMDB_110 commonName 605insT
CFMDB_1132 protEffect p.Leu159X
CFMDB_1132 commonName L159X
CFMDB_1271 protEffect p.Leu159Ser
CFMDB_1271 commonName L159S
CFMDB_1064 protEffect No Changes
CFMDB_1064 commonName 612T/A
CFMDB_1178 protEffect p.Tyr161Asn
CFMDB_1178 commonName Y161N
CFMDB_996 protEffect p.Tyr161Asp
CFMDB_996 commonName Y161D
CFMDB_1063 protEffect p.Tyr161Ser
CFMDB_1063 commonName Y161S
CFMDB_798 protEffect p.Lys162Glu
CFMDB_798 commonName K162E
CFMDB_1860 protEffect p.Lys163Thr
CFMDB_1860 commonName K163T
CFMDB_113 commonName 621+ 2T- >C
CFMDB_1061 commonName 621+ 31C/G
CFMDB_111 commonName 621G- >A
CFMDB_112 commonName 621+ 1G- >T
CFMDB_114 commonName 621+ 2T- >G
CFMDB_836 commonName 621+ 3A- >G
CFMDB_988 commonName 622- 152G/C
CFMDB_1572 commonName 622- 16 T/C
CFMDB_115 commonName 622- 2A- >C
CFMDB_116 commonName 622- 1G- >A
CFMDB_822 commonName 622- 103A/G
CFMDB_1420 commonName 622- 2A- >G
CFMDB_986 commonName 622- 116A/G
CFMDB_1874 protEffect p.Thr164Ala
CFMDB_1874 commonName T164A
CFMDB_117 protEffect p.Leu165X
CFMDB_117 commonName 624delT
CFMDB_118 protEffect p.Leu165Ser
CFMDB_118 commonName L165S
CFMDB_119 protEffect p.Lys166Glu
CFMDB_119 commonName K166Q
CFMDB_1735 protEffect p.Leu167Arg
CFMDB_120 protEffect p.Arg170Cys
CFMDB_120 commonName R170C
CFMDB_868 protEffect p.Arg170Gly
CFMDB_868 commonName R170G
CFMDB_1183 protEffect p.Arg170His
CFMDB_1183 commonName R170H
CFMDB_1679 protEffect p.Ile175TyrfsX6
CFMDB_1679 commonName 650delATAAA
CFMDB_121 protEffect p.Ile175Val
CFMDB_121 commonName I175V
CFMDB_122 protEffect p.Ser176ValfsX13
CFMDB_122 commonName 657delA
CFMDB_652 protEffect p.Ile177Thr
CFMDB_652 commonName I177T
CFMDB_888 protEffect p.Ile177MetfsX12
CFMDB_888 commonName 663delT
CFMDB_1856 protEffect p.Ile177Met
CFMDB_1856 commonName I177M
CFMDB_123 protEffect p.Gly178Arg
CFMDB_123 commonName G178R
CFMDB_1441 protEffect p.Gly178Glu
CFMDB_1441 commonName G178E
CFMDB_1079 protEffect p.Gln179Lys
CFMDB_1079 commonName Q179K
CFMDB_823 protEffect p.Leu183PhefsX5
CFMDB_823 commonName 675del4
CFMDB_1008 protEffect p.Ser182Gly
CFMDB_1008 commonName 676A/G
CFMDB_1466 protEffect p.Leu183Ile
CFMDB_1466 commonName L183I
CFMDB_124 protEffect p.Leu184PhefsX5
CFMDB_124 commonName 681delC
CFMDB_878 protEffect p.Asn186Lys
CFMDB_878 commonName N186K
CFMDB_987 protEffect p.Asn187Lys
CFMDB_987 commonName N187K
CFMDB_1525 protEffect p.Asn189Ser
CFMDB_1525 commonName N189S
CFMDB_1482 protEffect p.Asn189Lys
CFMDB_1482 commonName N189K
CFMDB_127 protEffect p.Asp192del
CFMDB_127 commonName [delta]D192
CFMDB_125 protEffect p.Asp192Asn
CFMDB_125 commonName D192N
CFMDB_126 protEffect p.Asp192Gly
CFMDB_126 commonName D192G
CFMDB_128 protEffect p.Glu193Lys
CFMDB_128 commonName E193K
CFMDB_129 protEffect p.Glu193X
CFMDB_129 commonName E193X
CFMDB_1690 protEffect p.Glu193ValfsX20
CFMDB_1690 commonName 710_711+ 5del7
CFMDB_131 commonName 711+ 3A- >C
CFMDB_130 commonName 711+ 1G- >T
CFMDB_653 commonName 711+ 34A- >G
CFMDB_132 commonName 711+ 3A- >G
CFMDB_133 commonName 711+ 3A- >T
CFMDB_134 commonName 711+ 5G- >A
CFMDB_135 commonName 712- 1G- >T
CFMDB_691 commonName 712- 92T/A
CFMDB_1487 protEffect p.Gly194Arg
CFMDB_1487 commonName G194R
CFMDB_1135 protEffect p.Gly194Val
CFMDB_1135 commonName G194V
CFMDB_1068 protEffect p.Ala198Pro
CFMDB_1068 commonName A198P
CFMDB_1841 protEffect p.Ala198Thr
CFMDB_1841 commonName A198T
CFMDB_136 protEffect p.His199Tyr
CFMDB_136 commonName H199Y
CFMDB_1296 protEffect p.His199Arg
CFMDB_1296 commonName H199R
CFMDB_137 protEffect p.His199Gln
CFMDB_137 commonName H199Q
CFMDB_1224 protEffect p.Phe200Ile
CFMDB_1224 commonName F200I
CFMDB_1136 protEffect p.Val201Met
CFMDB_1136 commonName V201M
CFMDB_1647 protEffect p.Val201CysfsX14
CFMDB_1647 commonName 733delG
CFMDB_1277 protEffect p.Trp202X
CFMDB_1277 commonName W202X
CFMDB_1009 commonName 741C/T
CFMDB_1438 protEffect p.Ile203Met
CFMDB_1438 commonName I203M
CFMDB_138 protEffect p.Pro205Ser
CFMDB_138 commonName P205S
CFMDB_1297 protEffect p.Pro205Arg
CFMDB_1297 commonName P205R
CFMDB_1895 protEffect p.Pro205Leu
CFMDB_139 protEffect p.Leu206Trp
CFMDB_139 commonName L206W
CFMDB_725 protEffect p.Leu206Phe
CFMDB_725 commonName L206F
CFMDB_140 protEffect p.Gln207X
CFMDB_140 commonName Q207X
CFMDB_942 protEffect p.Ala209Ser
CFMDB_942 commonName A209S
CFMDB_974 commonName 759A/G (A209A))
CFMDB_1347 protEffect p.Leu210Pro
CFMDB_1347 commonName L210P
CFMDB_1298 commonName G213V
CFMDB_997 protEffect p.Trp216X
CFMDB_997 commonName W216X
CFMDB_1684 protEffect p.Trp216Cys
CFMDB_1684 commonName W216C
CFMDB_844 protEffect p.Glu217Gly
CFMDB_844 commonName E217G
CFMDB_1794 protEffect p.Glu217GlyfsX11
CFMDB_585 protEffect p.Leu218X
CFMDB_585 commonName L218X
CFMDB_141 protEffect p.Gln220X
CFMDB_141 commonName Q220X
CFMDB_894 protEffect p.Gln220Arg
CFMDB_894 commonName Q220R
CFMDB_1449 commonName 795G/A
CFMDB_142 protEffect p.Cys225Arg
CFMDB_142 commonName C225R
CFMDB_646 protEffect p.Cys225X
CFMDB_646 commonName C225X
CFMDB_143 protEffect p.Leu227Arg
CFMDB_143 commonName L227R
CFMDB_144 protEffect p.Val232Asp
CFMDB_144 commonName V232D
CFMDB_1865 protEffect p.Leu233Phe
CFMDB_1865 commonName L233F
CFMDB_1701 protEffect p.Ala234Asp
CFMDB_1789 protEffect p.Gln237ArgfsX4
CFMDB_145 protEffect p.Gln237Glu
CFMDB_145 commonName Q237E
CFMDB_1869 protEffect p.Gln237His
CFMDB_1869 commonName Q237H
CFMDB_1537 protEffect p.Ala238Val
CFMDB_1537 commonName A238V
CFMDB_1801 protEffect p.Leu240X
CFMDB_146 protEffect p.Gly239Arg
CFMDB_146 commonName G239R
CFMDB_2014 protEffect p.Leu240X
CFMDB_147 protEffect p.Gly241GlufsX13
CFMDB_147 commonName 852del22
CFMDB_635 protEffect p.Gly241Arg
CFMDB_635 commonName G241R
CFMDB_1013 protEffect p.Met243Leu
CFMDB_1013 commonName M243L
CFMDB_1946 protEffect p.Met243Val
CFMDB_148 protEffect p.Met244Lys
CFMDB_148 commonName M244K
CFMDB_1010 commonName 873C/T
CFMDB_149 protEffect p.Tyr247X
CFMDB_149 commonName Y247X
CFMDB_1503 protEffect p.Arg248IlefsX?
CFMDB_1503 commonName 874Ins TACA
CFMDB_151 commonName 875+ 1G- >C
CFMDB_820 protEffect p.Arg248Thr
CFMDB_820 commonName R248T
CFMDB_150 commonName 875+ 1G- >A
CFMDB_909 commonName 875+ 40A/G
CFMDB_1828 commonName 875+ 4G>T
CFMDB_1571 commonName 876- 8 A- >C
CFMDB_1036 commonName 876- 3C- >T
CFMDB_152 commonName 876- 14del12
CFMDB_153 commonName 876- 10del8
CFMDB_910 commonName TTGA repeats
CFMDB_1845 protEffect p.Glu257Lys
CFMDB_1845 commonName E257K
CFMDB_154 protEffect p.Arg258Gly
CFMDB_154 commonName R258G
CFMDB_155 protEffect p.Arg258AsnfsX3
CFMDB_155 commonName 905delG
CFMDB_1748 protEffect p.Leu259SerfsX7
CFMDB_156 protEffect p.Met265Arg
CFMDB_156 commonName M265R
CFMDB_968 protEffect p.Asn268IlefsX17
CFMDB_968 commonName 935delA
CFMDB_157 protEffect p.Ile269ProfsX4
CFMDB_157 commonName 936delTA
CFMDB_1779 protEffect p.Tyr275X
CFMDB_158 protEffect p.Cys276X
CFMDB_158 commonName C276X
CFMDB_1418 protEffect p.Trp277Arg
CFMDB_1418 commonName W277R
CFMDB_762 protEffect p.Glu279del
CFMDB_762 commonName E278del
CFMDB_1687 protEffect p.Glu279Asp
CFMDB_1687 commonName E279D
CFMDB_1539 protEffect p.Glu279Asp
CFMDB_1539 commonName E279D
CFMDB_1272 protEffect p.Met281Thr
CFMDB_1272 commonName M281T
CFMDB_159 protEffect p.Met284AsnfsX3
CFMDB_159 commonName 977insA
CFMDB_1846 protEffect p.Glu282Asp
CFMDB_1846 commonName E282D
CFMDB_1506 protEffect p.Ile285Phe
CFMDB_1506 commonName I285F
CFMDB_1281 protEffect p.Asn287LysfsX21
CFMDB_1281 commonName 989- 992insA
CFMDB_591 protEffect p.Asn287Tyr
CFMDB_591 commonName N287Y
CFMDB_654 protEffect p.Asn287LysfsX19
CFMDB_654 commonName 991del5
CFMDB_1788 protEffect p.Asn287Lys
CFMDB_856 protEffect p.Leu288fsX?
CFMDB_856 commonName 994del9
CFMDB_160 protEffect p.Gln290X
CFMDB_160 commonName Q290X
CFMDB_1329 protEffect p.Asn287LysfsX21
CFMDB_1329 commonName 1001+ 4A- >C+ 993delCTTAA
CFMDB_911 commonName 1001+ 11C/T
CFMDB_912 commonName 1001+ 12C/T
CFMDB_1386 commonName 1001+ 3A>T
CFMDB_913 commonName 1002- 56C/G
CFMDB_1387 commonName 1002- 7delTTT
CFMDB_1663 commonName 1002- 2A>G
CFMDB_161 commonName 1002- 3T- >G
CFMDB_655 protEffect p.Glu292Lys
CFMDB_655 commonName E292K
CFMDB_1299 protEffect p.Leu293Met
CFMDB_1299 commonName L293M
CFMDB_162 protEffect p.Lys294ThrfsX13
CFMDB_162 commonName 1013delAA
CFMDB_749 protEffect p.Arg297Trp
CFMDB_749 commonName R297W
CFMDB_163 protEffect p.Arg297Gln
CFMDB_163 commonName R297Q
CFMDB_1144 protEffect p.Ala299Thr
CFMDB_1144 commonName A299T
CFMDB_164 protEffect p.Tyr301Cys
CFMDB_164 commonName Y301C
CFMDB_165 protEffect p.Tyr304X
CFMDB_165 commonName Y304X
CFMDB_1516 protEffect p.Phe305Val
CFMDB_1516 commonName F305V
CFMDB_1011 commonName 1047C/T
CFMDB_832 protEffect p.Ser307Asn
CFMDB_832 commonName S307N
CFMDB_1300 protEffect p.Ala309Thr
CFMDB_1300 commonName A309T
CFMDB_167 protEffect p.Phe310SerfsX18
CFMDB_167 commonName 1058delC
CFMDB_1301 protEffect p.Ala309Val
CFMDB_1301 commonName A309V
CFMDB_656 protEffect p.Ala309Gly
CFMDB_656 commonName A309G
CFMDB_166 protEffect p.Ala309Asp
CFMDB_166 commonName A309D
CFMDB_859 commonName A309A (1059C/G)
CFMDB_168 protEffect p.Phe312del
CFMDB_168 commonName [delta]F311
CFMDB_169 protEffect p.Phe311Leu
CFMDB_169 commonName F311L
CFMDB_1483 protEffect p.Ser313X
CFMDB_1483 commonName S313X
CFMDB_170 protEffect p.Gly314Arg
CFMDB_170 commonName G314R
CFMDB_737 protEffect p.Gly314Val
CFMDB_737 commonName G314V
CFMDB_171 protEffect p.Gly314Glu
CFMDB_171 commonName G314E
CFMDB_1163 protEffect p.Phe316Leu
CFMDB_1163 commonName F316L
CFMDB_172 protEffect p.Phe316LeufsX12
CFMDB_172 commonName 1078delT
CFMDB_173 protEffect p.Val317Ala
CFMDB_173 commonName V317A
CFMDB_1367 commonName 1086G/A
CFMDB_1886 protEffect p.Phe319Val
CFMDB_174 protEffect p.Leu320Val
CFMDB_174 commonName L320V
CFMDB_1228 protEffect p.Leu320X
CFMDB_1228 commonName L320X
CFMDB_1173 commonName 1092A/G
CFMDB_175 protEffect p.Leu320Phe
CFMDB_175 commonName L320F
CFMDB_1405 protEffect p.Ser321Pro
CFMDB_1405 commonName S321P
CFMDB_870 protEffect p.Val322Met
CFMDB_870 commonName V322M (1096(G/A))
CFMDB_176 protEffect p.Val322Ala
CFMDB_176 commonName V322A
CFMDB_746 commonName 1098G/A
CFMDB_1698 protEffect p.Pro324Leu
CFMDB_1698 commonName P324L
CFMDB_871 commonName 1104(C/G)
CFMDB_1873 protEffect p.Tyr325Cys
CFMDB_1873 commonName Y325C
CFMDB_1786 protEffect p.Tyr325Cys
CFMDB_177 protEffect p.Leu327Arg
CFMDB_177 commonName L327R
CFMDB_825 protEffect p.Leu327GlnfsX42
CFMDB_825 commonName 1112delT
CFMDB_178 protEffect p.Gly330GlufsX39
CFMDB_178 commonName 1119delA
CFMDB_179 protEffect p.Gly330X
CFMDB_179 commonName G330X
CFMDB_1692 protEffect p.Ile331Asn
CFMDB_1692 commonName I331N
CFMDB_1866 protEffect p.Leu333Phe
CFMDB_1866 commonName L333F
CFMDB_180 protEffect p.Arg334Trp
CFMDB_180 commonName R334W
CFMDB_632 protEffect p.Arg334Leu
CFMDB_632 commonName R334L
CFMDB_181 protEffect p.Arg334Gln
CFMDB_181 commonName R334Q
CFMDB_182 protEffect p.Ile336SerfsX28
CFMDB_182 commonName 1138insG
CFMDB_1911 protEffect p.Ile336Leu
CFMDB_183 protEffect p.Ile336Lys
CFMDB_183 commonName I336K
CFMDB_1496 protEffect p.Thr338Ala
CFMDB_1496 commonName T338A
CFMDB_184 protEffect p.Thr338Ile
CFMDB_184 commonName T338I
CFMDB_1587 protEffect p.Thr339del
CFMDB_1587 commonName [delta]T339
CFMDB_1681 protEffect p.Phe342HisfsX28
CFMDB_1681 commonName 1150insTC
CFMDB_185 protEffect p.Ile340SerfsX29
CFMDB_185 commonName 1150delA
CFMDB_1302 protEffect p.Ile340Asn
CFMDB_1302 commonName I340N
CFMDB_1371 protEffect p.Phe337_Ile340dup
CFMDB_1371 commonName 1151ins12
CFMDB_1477 protEffect p.Ser341Pro
CFMDB_1477 commonName S341P
CFMDB_186 protEffect p.Phe342HisfsX28
CFMDB_186 commonName 1154insTC
CFMDB_187 protEffect p.Cys343X
CFMDB_187 commonName 1161delC
CFMDB_188 protEffect p.Ile344AspfsX20
CFMDB_188 commonName 1161insG
CFMDB_1554 commonName 1164 T/A
CFMDB_1887 protEffect p.Leu346Leu
CFMDB_189 protEffect p.Leu346Pro
CFMDB_189 commonName L346P
CFMDB_190 protEffect p.Arg347Cys
CFMDB_190 commonName R347C
CFMDB_191 protEffect p.Arg347His
CFMDB_191 commonName R347H
CFMDB_192 protEffect p.Arg347Leu
CFMDB_192 commonName R347L
CFMDB_193 protEffect p.Arg347Pro
CFMDB_193 commonName R347P
CFMDB_1467 protEffect p.Met348Val
CFMDB_1467 commonName M348V
CFMDB_194 protEffect p.Met348Lys
CFMDB_194 commonName M348K
CFMDB_1545 protEffect p.Met348Thr
CFMDB_1545 commonName M348T
CFMDB_195 protEffect p.Ala349Val
CFMDB_195 commonName A349V
CFMDB_864 protEffect p.Thr351Ser
CFMDB_864 commonName T351S
CFMDB_1699 protEffect p.Thr351Ile
CFMDB_1699 commonName T351I
CFMDB_1395 protEffect p.Arg352AlafsX11
CFMDB_1395 commonName 1185delTC
CFMDB_1346 protEffect p.Arg352Gly
CFMDB_1346 commonName R352G
CFMDB_605 protEffect p.Arg352Trp
CFMDB_605 commonName R352W
CFMDB_196 protEffect p.Arg352Gln
CFMDB_196 commonName R352Q
CFMDB_1099 protEffect p.Gln353X
CFMDB_1099 commonName Q353X
CFMDB_865 protEffect p.Gln353His
CFMDB_865 commonName Q353H
CFMDB_1535 protEffect p.Pro355Ser
CFMDB_1535 commonName P355S
CFMDB_1408 protEffect p.Trp356Ser
CFMDB_1408 commonName W356S
CFMDB_657 protEffect p.Ala357LeufsX12
CFMDB_657 commonName 1199delG
CFMDB_803 protEffect p.Trp356X
CFMDB_803 commonName W356X
CFMDB_197 protEffect p.[Gln359Lys;Thr360Lys]
CFMDB_197 commonName Q359K/T360K
CFMDB_1146 protEffect p.Gln359Arg
CFMDB_1146 commonName Q359R
CFMDB_704 protEffect p.Thr360Arg
CFMDB_704 commonName T360R
CFMDB_199 protEffect p.Trp361Arg
CFMDB_199 commonName W361R(T- >C)
CFMDB_1042 protEffect p.Trp361Arg
CFMDB_1042 commonName W361R(T- >A)
CFMDB_198 protEffect p.Trp361GlyfsX8
CFMDB_198 commonName 1213delT
CFMDB_200 protEffect p.Trp361CysfsX8
CFMDB_200 commonName 1215delG
CFMDB_1754 protEffect p.Tyr362X
CFMDB_1792 protEffect p.Tyr362X
CFMDB_201 protEffect p.Leu365TrpfsX16
CFMDB_201 commonName 1221delCT
CFMDB_1893 protEffect p.Asp363_Ser364delinsGluIle
CFMDB_202 protEffect p.Ser364Pro
CFMDB_202 commonName S364P
CFMDB_1125 protEffect p.Leu365Pro
CFMDB_1125 commonName L365P
CFMDB_1667 commonName 1233A/T
CFMDB_203 protEffect p.Lys370_Ile371insThrLys
CFMDB_203 commonName 1243ins6
CFMDB_1969 protEffect p.Gln372X
CFMDB_1303 commonName 1248+ 1G- >C
CFMDB_914 commonName 1248+ 17C- >T
CFMDB_1570 commonName 1248+ 31 A/C
CFMDB_592 commonName 1248+ 52T/C
CFMDB_204 commonName 1248+ 1G- >A
CFMDB_915 commonName 1249- 82C/T
CFMDB_205 commonName 1249- 5A- >G
CFMDB_1611 commonName 1249- 31A- >G
CFMDB_883 commonName 1249- 27delTA
CFMDB_586 commonName 1249- 30delAT
CFMDB_1576 protEffect p.Asp373Glu
CFMDB_1576 commonName D373E
CFMDB_206 protEffect p.Leu375Phe
CFMDB_206 commonName L375F
CFMDB_588 protEffect p.Gln378AlafsX4
CFMDB_588 commonName 1259insA
CFMDB_1261 protEffect p.Gln378Arg
CFMDB_1261 commonName Q378R
CFMDB_1225 protEffect p.Glu379Lys
CFMDB_1225 commonName E379K
CFMDB_1129 protEffect p.Glu379X
CFMDB_1129 commonName E379X
CFMDB_710 protEffect p.Leu383Ser
CFMDB_710 commonName L383S
CFMDB_1147 commonName L383L (1281G/A)
CFMDB_207 protEffect p.Glu384AspfsX4
CFMDB_207 commonName 1283delA
CFMDB_1362 protEffect p.Asn386IlefsX3
CFMDB_1362 commonName 1288insTA
CFMDB_1683 protEffect p.Leu387ThrfsX2
CFMDB_1683 commonName 1289insTA
CFMDB_1269 protEffect p.Leu387AsnfsX23
CFMDB_1269 commonName 1291delTT
CFMDB_695 protEffect p.Thr388GlnfsX3
CFMDB_695 commonName 1294del7
CFMDB_208 protEffect p.Thr388X
CFMDB_208 commonName T388X
CFMDB_658 protEffect p.Thr388Met
CFMDB_658 commonName T388M
CFMDB_209 commonName 1296G/T
CFMDB_659 protEffect p.Val392Ala
CFMDB_659 commonName V392A
CFMDB_816 protEffect p.Val392Gly
CFMDB_816 commonName V392G
CFMDB_604 protEffect p.Val393X
CFMDB_604 commonName 1309delG
CFMDB_1137 protEffect p.Met394Arg
CFMDB_1137 commonName M394R
CFMDB_1680 protEffect p.Asn396Tyr
CFMDB_1680 commonName N369Y
CFMDB_1000 protEffect p.Thr398AsnfsX13
CFMDB_1000 commonName 1323insA
CFMDB_1685 protEffect p.Ala399Val
CFMDB_1685 commonName I1328T
CFMDB_1273 protEffect p.Ala399Asp
CFMDB_1273 commonName A399D
CFMDB_1083 protEffect p.Ala399Val
CFMDB_1083 commonName A399V
CFMDB_718 protEffect p.Trp401X
CFMDB_718 commonName W401X(TAG)
CFMDB_211 protEffect p.Trp401X
CFMDB_211 commonName W401X(TGA)
CFMDB_212 commonName 1341+ 18A- >C
CFMDB_980 commonName 1341+ 28C/T
CFMDB_1569 commonName 1341+ 79 C/T
CFMDB_1148 protEffect p.Glu403Asp
CFMDB_1148 commonName E403D
CFMDB_618 commonName 1341+ 1G- >A
CFMDB_1509 commonName 1341+ 80G>A
CFMDB_1041 commonName 1341G- >A
CFMDB_1639 commonName 1341+ 6 A- >G
CFMDB_1361 commonName poly- T tract variations
CFMDB_214 commonName 1342- 2A- >C
CFMDB_873 commonName 1342- 1G- >C
CFMDB_215 commonName 1342- 2delAG
CFMDB_1678 commonName 1342- 1delG
CFMDB_919 commonName 1342- 13G/T
CFMDB_213 commonName 1342- 11TTT- >G
CFMDB_957 commonName 1342- 265(GT)n
CFMDB_918 commonName 1342- 12(GT)n
CFMDB_994 protEffect p.Glu407Val
CFMDB_994 commonName E407V
CFMDB_1716 protEffect p.Glu407AlafsX4
CFMDB_1703 protEffect p.Phe409LeufsX33
CFMDB_752 protEffect p.Ala412GlnfsX30
CFMDB_752 commonName 1366delG
CFMDB_1149 protEffect p.Ala412GlufsX30
CFMDB_1149 commonName 1367delC
CFMDB_985 protEffect p.Asn415X
CFMDB_985 commonName 1367del5
CFMDB_216 protEffect p.Gln414X
CFMDB_216 commonName Q414X
CFMDB_1538 protEffect p.Asn416Ser
CFMDB_1538 commonName N416S
CFMDB_217 protEffect p.Asn418Ser
CFMDB_217 commonName N418S
CFMDB_1795 protEffect p.Thr421Ala
CFMDB_1087 protEffect p.Gly424Ser
CFMDB_1087 commonName G424S
CFMDB_1546 protEffect p.Ser431Gly
CFMDB_1546 commonName S431G
CFMDB_813 protEffect p.Ser434X
CFMDB_813 commonName S434X
CFMDB_1766 protEffect p.Gly437Val
CFMDB_1924 protEffect p.Thr438Ala
CFMDB_1501 protEffect p.Pro439Ser
CFMDB_1501 commonName P439S
CFMDB_1760 protEffect p.Leu441Pro
CFMDB_1750 protEffect p.Lys442X
CFMDB_218 protEffect p.Asp443Tyr
CFMDB_218 commonName D443Y
CFMDB_219 protEffect p.Ile444X
CFMDB_219 commonName 1460delAT
CFMDB_1568 commonName 1461 T/C
CFMDB_220 protEffect p.Ile444ArgfsX3
CFMDB_220 commonName 1461ins4
CFMDB_1638 protEffect p.Ile444Thr
CFMDB_1638 commonName I444T
CFMDB_995 protEffect p.Ile444Ser
CFMDB_995 commonName I444S
CFMDB_1031 protEffect p.Lys447ArgfsX2
CFMDB_1031 commonName 1471delA
CFMDB_1896 protEffect p.Ile448Arg
CFMDB_1797 protEffect p.Gln452SerfsX30
CFMDB_841 protEffect p.Gln452Pro
CFMDB_841 commonName Q452P
CFMDB_221 protEffect p.Leu454del
CFMDB_221 commonName [delta]L453
CFMDB_222 protEffect p.Ala455Glu
CFMDB_222 commonName A455E
CFMDB_1266 protEffect p.Val456CysfsX25
CFMDB_1266 commonName 1497delGG
CFMDB_223 protEffect p.Val456Phe
CFMDB_223 commonName V456F
CFMDB_1184 protEffect p.Val456Ala
CFMDB_1184 commonName V456A
CFMDB_224 protEffect p.Gly458AspfsX11
CFMDB_224 commonName 1504delG
CFMDB_225 protEffect p.Gly458Val
CFMDB_225 commonName G458V
CFMDB_1739 protEffect p.Gly463Val
CFMDB_1851 protEffect p.Gly463Val
CFMDB_1851 commonName G463V
CFMDB_226 commonName 1524+ 6insC
CFMDB_1373 protEffect p.Lys464Asn
CFMDB_1373 commonName K464N
CFMDB_1565 commonName 1524+ 68 G/A
CFMDB_1211 commonName 1524+ 1G- >A
CFMDB_1566 commonName 1524+ 60 insA
CFMDB_227 commonName 1525- 1G- >A
CFMDB_830 commonName 1525- 18G/A
CFMDB_920 commonName 1525- 61A/G
CFMDB_1656 commonName 1525- 47T- >G
CFMDB_1510 commonName 1525- 42G>A
CFMDB_921 commonName 1525- 60G/A
CFMDB_1304 commonName 1525- 2A- >G
CFMDB_229 protEffect p.Ser466X
CFMDB_229 commonName S466X(TAG)
CFMDB_228 protEffect p.Ser466Leu
CFMDB_228 commonName S466L
CFMDB_230 protEffect p.Ser466X
CFMDB_230 commonName S466X(TAA)
CFMDB_751 protEffect p.Leu467Phe
CFMDB_751 commonName 1531C/T (L467F)
CFMDB_1682 protEffect p.Leu468Pro
CFMDB_1682 commonName L468P
CFMDB_1349 protEffect p.Met469Val
CFMDB_1349 commonName M469V
CFMDB_1019 protEffect p.Met470Val
CFMDB_1019 commonName M470V
CFMDB_978 protEffect p.Met470GlufsX54
CFMDB_978 commonName 1540del10
CFMDB_1968 protEffect p.Ile471Val
CFMDB_692 protEffect p.Gly473GlufsX54
CFMDB_692 commonName 1548delG
CFMDB_1189 protEffect p.Glu474Lys
CFMDB_1189 commonName E474K
CFMDB_1785 protEffect p.Pro477Ser
CFMDB_1574 protEffect p.Ser478X
CFMDB_1574 commonName 1565 del CA
CFMDB_1633 protEffect p.Glu479X
CFMDB_1633 commonName E479X
CFMDB_1983 protEffect p.Glu479Asp
CFMDB_231 protEffect p.Gly480Cys
CFMDB_231 commonName G480C
CFMDB_1210 protEffect p.Gly480Ser
CFMDB_1210 commonName G480S
CFMDB_232 protEffect p.Gly480Asp
CFMDB_232 commonName G480D
CFMDB_233 protEffect p.Gly480ValfsX47
CFMDB_233 commonName 1571delG
CFMDB_1020 commonName 1572T/C
CFMDB_1164 protEffect p.Lys483X
CFMDB_1164 commonName 1576insT
CFMDB_723 protEffect p.His484Tyr
CFMDB_723 commonName H484Y
CFMDB_966 protEffect p.His484Arg
CFMDB_966 commonName H484R
CFMDB_1047 protEffect p.Ser485Cys
CFMDB_1047 commonName S485C
CFMDB_1871 protEffect p.Ser485Thr
CFMDB_1871 commonName S485T
CFMDB_234 protEffect p.Gly486X
CFMDB_234 commonName G486X
CFMDB_235 protEffect p.Ser489X
CFMDB_235 commonName S489X
CFMDB_660 protEffect p.Phe490LeufsX13
CFMDB_660 commonName 1601delTC
CFMDB_1926 protEffect p.Phe490Serfs*37
CFMDB_722 protEffect p.Cys491Arg
CFMDB_722 commonName C491R
CFMDB_1909 protEffect p.Cys491Ser
CFMDB_2006 protEffect p.Cys491Phe
CFMDB_236 protEffect p.Ser492Phe
CFMDB_236 commonName S492F
CFMDB_238 protEffect p.Gln493ValfsX10
CFMDB_238 commonName 1609delCA
CFMDB_237 protEffect p.Gln493X
CFMDB_237 commonName Q493X
CFMDB_1256 protEffect p.Gln493Pro
CFMDB_1256 commonName Q493P
CFMDB_239 protEffect p.Gln493Arg
CFMDB_239 commonName Q493R
CFMDB_240 protEffect p.Ser495LeufsX8
CFMDB_240 commonName 1612delTT
CFMDB_1912 protEffect p.Ser495Tyr
CFMDB_241 protEffect p.Trp496X
CFMDB_241 commonName W496X
CFMDB_1326 protEffect p.Ile497Val
CFMDB_1326 commonName I497V
CFMDB_1486 protEffect p.Met498Ile
CFMDB_1486 commonName M498I
CFMDB_661 protEffect p.Pro499Ala
CFMDB_661 commonName P499A
CFMDB_982 protEffect p.Thr501Ala
CFMDB_982 commonName T501A
CFMDB_726 protEffect p.Ile502Thr
CFMDB_726 commonName I502T
CFMDB_1223 protEffect p.Ile502Asn
CFMDB_1223 commonName I502N
CFMDB_724 protEffect p.Glu504X
CFMDB_724 commonName E504X
CFMDB_242 protEffect p.Glu504Gln
CFMDB_242 commonName E504Q
CFMDB_245 protEffect p.Ile507del
CFMDB_245 commonName [delta]I507
CFMDB_1021 protEffect p.Ile506Val
CFMDB_1021 commonName I506V (1648A/G)
CFMDB_851 protEffect p.Ile506Leu
CFMDB_851 commonName I506L
CFMDB_243 protEffect p.Ile506Ser
CFMDB_243 commonName I506S
CFMDB_244 protEffect p.Ile506Thr
CFMDB_244 commonName I506T
CFMDB_869 protEffect p.Ile506Met
CFMDB_869 commonName 1650C/G
CFMDB_1023 protEffect p.Ile507Val
CFMDB_1023 commonName 1651A/G
CFMDB_1919 protEffect p.Ile507Met
CFMDB_246 protEffect p.Phe508del
CFMDB_246 commonName [delta]F508
CFMDB_1024 protEffect p.Phe508Cys
CFMDB_1024 commonName F508C
CFMDB_1138 protEffect p.Phe508Ser
CFMDB_1138 commonName F508S
CFMDB_1610 protEffect p.Val510PhefsX17
CFMDB_1610 commonName 1660delG
CFMDB_1888 protEffect p.Ser511Cys
CFMDB_818 protEffect p.Asp513Gly
CFMDB_818 commonName D513G
CFMDB_1258 protEffect p.Tyr515His
CFMDB_1258 commonName Y515H
CFMDB_247 protEffect p.Tyr515X
CFMDB_247 commonName 1677delTA
CFMDB_1268 protEffect p.Arg516Gly
CFMDB_1268 commonName R516G
CFMDB_760 protEffect p.Tyr517Cys
CFMDB_760 commonName Y517C
CFMDB_1226 protEffect p.Ser519Gly
CFMDB_1226 commonName S519G
CFMDB_249 protEffect p.Val520Ile
CFMDB_249 commonName V520I
CFMDB_248 protEffect p.Val520Phe
CFMDB_248 commonName V520F
CFMDB_1206 protEffect p.Ile521Leu
CFMDB_1206 commonName 1693A- >C
CFMDB_1907 protEffect p.Ile521Phe
CFMDB_1810 protEffect p.Ala523Ser
CFMDB_250 protEffect p.Cys524X
CFMDB_250 commonName C524X
CFMDB_251 protEffect p.Gln525X
CFMDB_251 commonName Q525X
CFMDB_252 protEffect p.Gln525LeufsX37
CFMDB_252 commonName 1706del17
CFMDB_817 protEffect p.Glu527Gln
CFMDB_817 commonName E527Q
CFMDB_964 protEffect p.Glu527Gly
CFMDB_964 commonName E527G
CFMDB_1025 commonName 1713A/G
CFMDB_1653 protEffect p.Glu528Lys
CFMDB_1653 commonName E528K
CFMDB_662 commonName 1716+ 2T- >C
CFMDB_922 commonName 1716+ 12T/C
CFMDB_748 commonName 1716+ 64A/C
CFMDB_598 commonName 1716+ 85C/T
CFMDB_1026 commonName 1716G/A
CFMDB_1190 protEffect p.Glu528Asp
CFMDB_1190 commonName E528D
CFMDB_923 commonName 1716+ 13G/T
CFMDB_613 commonName 1716+ 77A/G
CFMDB_1590 commonName 1716+ 1G- >T
CFMDB_1591 commonName 1716+ 4 A- >T
CFMDB_641 commonName 1716+ 1G- >A
CFMDB_924 commonName dup1716+ 51- >61
CFMDB_896 commonName 1716+ 63ins11nt
CFMDB_925 commonName 1717- 19T/C
CFMDB_1139 protEffect p.Asp529His
CFMDB_1139 commonName D529H
CFMDB_255 commonName 1717- 1G- >A
CFMDB_253 commonName 1717- 8G- >A
CFMDB_254 commonName 1717- 2A- >G
CFMDB_663 commonName 1717- 3T- >G
CFMDB_1022 commonName 1717- 9T- >A
CFMDB_1642 protEffect p.Asp529Gly
CFMDB_1642 commonName D529G
CFMDB_1724 protEffect p.Ile530Leu
CFMDB_1993 protEffect p.Phe533Leu
CFMDB_2007 protEffect p.Phe533Val
CFMDB_256 protEffect p.Ala534Glu
CFMDB_256 commonName A534E
CFMDB_1497 protEffect p.Lys536X
CFMDB_1497 commonName K536X
CFMDB_1861 protEffect p.Lys536Glu
CFMDB_1861 commonName K536E
CFMDB_831 protEffect p.Asp537GlufsX30
CFMDB_831 commonName 1742delAC
CFMDB_1291 protEffect p.Asp537Glu
CFMDB_1291 commonName D537E
CFMDB_257 protEffect p.Ile539Thr
CFMDB_257 commonName I539T
CFMDB_1128 protEffect p.Val540X
CFMDB_1128 commonName 1749insTA
CFMDB_1880 protEffect p.Leu541Pro
CFMDB_258 protEffect p.Gly542X
CFMDB_258 commonName G542X
CFMDB_1852 protEffect p.Gly542Glu
CFMDB_1852 commonName G542E
CFMDB_259 protEffect p.Gly544Ser
CFMDB_259 commonName G544S
CFMDB_603 protEffect p.Gly544Val
CFMDB_603 commonName G544V
CFMDB_1150 commonName 1764T/G
CFMDB_1284 protEffect p.Ile546_Thr547del
CFMDB_1284 commonName 1767del6
CFMDB_1027 commonName 1773A/T
CFMDB_260 protEffect p.Leu548GlufsX19
CFMDB_260 commonName 1774delCT
CFMDB_1375 protEffect p.Leu548Gln
CFMDB_1375 commonName L548Q
CFMDB_261 protEffect p.Ser549Arg
CFMDB_261 commonName S549R(A- >C)
CFMDB_1780 protEffect p.Ser549GlufsX9
CFMDB_262 protEffect p.Ser549Asn
CFMDB_262 commonName S549N
CFMDB_263 protEffect p.Ser549Ile
CFMDB_263 commonName S549I
CFMDB_264 protEffect p.Ser549Arg
CFMDB_264 commonName S549R(T- >G)
CFMDB_265 protEffect p.Gly550Arg
CFMDB_265 commonName G550R
CFMDB_266 protEffect p.Gly550X
CFMDB_266 commonName G550X
CFMDB_267 protEffect p.Gly551ValfsX8
CFMDB_267 commonName 1782delA
CFMDB_268 protEffect p.Gly551Ser
CFMDB_268 commonName G551S
CFMDB_269 protEffect p.Gly551Asp
CFMDB_269 commonName G551D
CFMDB_270 protEffect p.Gly551ValfsX8
CFMDB_270 commonName 1784delG
CFMDB_596 protEffect p.Gln552Lys
CFMDB_596 commonName Q552K
CFMDB_271 protEffect p.Gln552X
CFMDB_271 commonName Q552X
CFMDB_1043 protEffect p.Gln552HisfsX7
CFMDB_1043 commonName 1787delA
CFMDB_272 protEffect p.Arg553Gly
CFMDB_272 commonName R553G
CFMDB_273 protEffect p.Arg553X
CFMDB_273 commonName R553X
CFMDB_274 protEffect p.Arg553Gln
CFMDB_274 commonName R553Q
CFMDB_1726 protEffect p.Ala554AspfsX14
CFMDB_991 protEffect p.Arg555Gly
CFMDB_991 commonName R555G
CFMDB_275 protEffect p.Ile556Val
CFMDB_275 commonName I556V
CFMDB_664 protEffect p.Ser557PhefsX2
CFMDB_664 commonName 1802delC
CFMDB_1829 commonName 1811+ 1643G>T
CFMDB_276 protEffect p.Leu558Ser
CFMDB_276 commonName L558S
CFMDB_277 protEffect p.Ala559GlnfsX13
CFMDB_277 commonName 1806delA
CFMDB_278 protEffect p.Ala559Thr
CFMDB_278 commonName A559T
CFMDB_1191 protEffect p.Ala559Glu
CFMDB_1191 commonName A559E
CFMDB_1592 protEffect p.Ala559Val
CFMDB_1592 commonName A559V
CFMDB_1274 protEffect p.Arg560Gly
CFMDB_1274 commonName R560G
CFMDB_281 commonName 1811+ 1G- >C
CFMDB_1519 commonName 1811+ 16T- >C
CFMDB_280 protEffect p.Arg560Thr
CFMDB_280 commonName R560T
CFMDB_279 protEffect p.Arg560Lys
CFMDB_279 commonName R560K
CFMDB_282 commonName 1811+ 18G- >A
CFMDB_1505 commonName 1811 + 1 G>A
CFMDB_1660 commonName 1811+ 24G- >A
CFMDB_1388 commonName 1811+ 34 G>A
CFMDB_1532 commonName 1811 + 1650 T>A
CFMDB_1608 commonName 1811+ 5A- >G
CFMDB_1287 commonName 1811+ 11A- >G
CFMDB_639 commonName 1812- 136T/C
CFMDB_926 commonName 1812- 108T/C
CFMDB_1646 commonName 1812- 99 T- >C
CFMDB_1363 commonName 1812- 26T- >C
CFMDB_284 commonName 1812- 1G- >A
CFMDB_1575 commonName 1812- 5 T- >A
CFMDB_1088 commonName 1812- 59T/G
CFMDB_285 protEffect p.Arg560Ser
CFMDB_285 commonName R560S
CFMDB_730 protEffect p.Val562SerfsX6
CFMDB_730 commonName 1813insC
CFMDB_286 protEffect p.Ala561Glu
CFMDB_286 commonName A561E
CFMDB_288 protEffect p.Val562Leu
CFMDB_288 commonName V562L
CFMDB_287 protEffect p.Val562Ile
CFMDB_287 commonName V562I
CFMDB_289 protEffect p.Tyr563Asp
CFMDB_289 commonName Y563D
CFMDB_290 protEffect p.Tyr563Asn
CFMDB_290 commonName Y563N
CFMDB_1933 protEffect p.Tyr563His
CFMDB_291 protEffect p.Tyr563Cys
CFMDB_291 commonName Y563C
CFMDB_1813 protEffect p.Lys564Glu
CFMDB_1831 protEffect p.Asp565MetfsX7
CFMDB_1831 commonName 1824delA
CFMDB_1267 protEffect p.Asp565Gly
CFMDB_1267 commonName D565G
CFMDB_1338 protEffect p.Ala566Thr
CFMDB_1338 commonName A566T
CFMDB_1899 protEffect p.Asp567Gly
CFMDB_292 protEffect p.Leu568CysfsX4
CFMDB_292 commonName 1833delT
CFMDB_293 protEffect p.Leu568X
CFMDB_293 commonName L568X
CFMDB_627 protEffect p.Leu568Phe
CFMDB_627 commonName L568F
CFMDB_295 protEffect p.Tyr569His
CFMDB_295 commonName Y569H
CFMDB_294 protEffect p.Tyr569Asp
CFMDB_294 commonName Y569D
CFMDB_296 protEffect p.Tyr569Cys
CFMDB_296 commonName Y569C
CFMDB_297 protEffect p.Tyr569X
CFMDB_297 commonName Y569X
CFMDB_298 protEffect p.Leu571Ser
CFMDB_298 commonName L571S
CFMDB_1096 protEffect p.Asp572LeufsX16
CFMDB_1096 commonName 1845delAG/1846delGA
CFMDB_299 protEffect p.Asp572Asn
CFMDB_299 commonName D572N
CFMDB_1721 protEffect p.Asp572His
CFMDB_1499 protEffect p.Ser573Cys
CFMDB_1499 commonName S573C
CFMDB_1492 protEffect p.Pro574Ser
CFMDB_1492 commonName P574S
CFMDB_300 protEffect p.Pro574His
CFMDB_300 commonName P574H
CFMDB_301 protEffect p.Gly576X
CFMDB_301 commonName G576X
CFMDB_590 protEffect p.Gly576Ala
CFMDB_590 commonName G576A
CFMDB_302 protEffect p.Tyr577Phe
CFMDB_302 commonName Y577F
CFMDB_755 commonName Y577Y (1863C/T)
CFMDB_1804 protEffect p.Tyr577X
CFMDB_303 protEffect p.Asp579Tyr
CFMDB_303 commonName D579Y
CFMDB_304 protEffect p.Asp579Gly
CFMDB_304 commonName D579G
CFMDB_210 protEffect p.Asp579Ala
CFMDB_210 commonName D579A
CFMDB_1175 protEffect p.Val580PhefsX2
CFMDB_1175 commonName 1870delG
CFMDB_305 protEffect p.Leu581PhefsX8
CFMDB_305 commonName 1874insT
CFMDB_1292 protEffect p.Thr582Ser
CFMDB_1292 commonName T582S
CFMDB_306 protEffect p.Thr582Ile
CFMDB_306 commonName T582I
CFMDB_307 protEffect p.Thr582Arg
CFMDB_307 commonName T582R
CFMDB_308 protEffect p.Glu585X
CFMDB_308 commonName E585X
CFMDB_1578 protEffect p.Ile586Val
CFMDB_1578 commonName I586V
CFMDB_1394 protEffect p.Phe587Ile
CFMDB_1394 commonName F587I
CFMDB_1471 protEffect p.Glu588Val
CFMDB_1471 commonName E588V
CFMDB_311 commonName 1898+ 1G- >C
CFMDB_312 commonName 1898+ 3A- >C
CFMDB_740 commonName 1898+ 5G- >A
CFMDB_665 protEffect p.Ser589Asn
CFMDB_665 commonName S589N
CFMDB_1059 protEffect p.Ser589Ile
CFMDB_1059 commonName S589I
CFMDB_927 commonName 1898+ 152T/A
CFMDB_309 commonName 1898+ 1G- >A
CFMDB_310 commonName 1898+ 1G- >T
CFMDB_1046 commonName 1898+ 30G/A
CFMDB_313 commonName 1898+ 3A- >G
CFMDB_314 commonName 1898+ 5G- >T
CFMDB_315 commonName 1898+ 73T- >G
CFMDB_1643 protEffect p.Leu594Pro
CFMDB_1643 commonName L594P
CFMDB_1905 protEffect p.Met595Val
CFMDB_1493 protEffect p.Met595Thr
CFMDB_1493 commonName M595T
CFMDB_1632 protEffect p.Met595Ile
CFMDB_1632 commonName M595I
CFMDB_316 protEffect p.Ala596X
CFMDB_316 commonName 1918delGC
CFMDB_1618 protEffect p.Lys598X
CFMDB_1618 commonName K598X
CFMDB_317 protEffect p.Lys598GlyfsX11
CFMDB_317 commonName 1924del7
CFMDB_1151 commonName T599T (1929T/A)
CFMDB_753 protEffect p.Arg600Gly
CFMDB_753 commonName R600G
CFMDB_1593 protEffect p.Ile601PhefsX10
CFMDB_1593 commonName 1932delG
CFMDB_666 protEffect p.Ile601Phe
CFMDB_666 commonName I601F
CFMDB_1949 protEffect p.Ile601Val
CFMDB_852 protEffect p.Val603Phe
CFMDB_852 commonName V603F
CFMDB_1192 protEffect p.Thr604Ile
CFMDB_1192 commonName T604I
CFMDB_1502 protEffect p.Thr604Ser
CFMDB_1502 commonName T604S
CFMDB_1830 commonName 1812- 13A>G
CFMDB_1257 protEffect p.Glu608Gly
CFMDB_1257 commonName E608G
CFMDB_1536 protEffect p.His609Leu
CFMDB_1536 commonName H609L
CFMDB_754 protEffect p.His609Arg
CFMDB_754 commonName H609R
CFMDB_319 protEffect p.Leu610Ser
CFMDB_319 commonName L610S
CFMDB_667 protEffect p.Ala613Thr
CFMDB_667 commonName A613T
CFMDB_1193 protEffect p.Asp614Tyr
CFMDB_1193 commonName D614Y
CFMDB_320 protEffect p.Asp614Gly
CFMDB_320 commonName D614G
CFMDB_321 protEffect p.Ile618Thr
CFMDB_321 commonName I618T
CFMDB_322 protEffect p.Leu619Ser
CFMDB_322 commonName L619S
CFMDB_323 protEffect p.His620Pro
CFMDB_323 commonName H620P
CFMDB_668 protEffect p.His620Gln
CFMDB_668 commonName H620Q
CFMDB_669 protEffect p.Gly622Asp
CFMDB_669 commonName G622D
CFMDB_1689 protEffect p.Ser624IlefsX15
CFMDB_1689 commonName 2003del8
CFMDB_325 protEffect p.Gly628Arg
CFMDB_325 commonName G628R(G- >C)
CFMDB_324 protEffect p.Gly628Arg
CFMDB_324 commonName G628R(G- >A)
CFMDB_1520 protEffect p.Leu633Ile
CFMDB_1520 commonName L633I
CFMDB_326 protEffect p.Leu633Pro
CFMDB_326 commonName L633P
CFMDB_637 protEffect p.Gln634X
CFMDB_637 commonName Q634X
CFMDB_962 protEffect p.Leu636Pro
CFMDB_962 commonName L636P
CFMDB_1044 protEffect p.Gln637X
CFMDB_1044 commonName Q637X
CFMDB_327 protEffect p.Gln637HisfsX26
CFMDB_327 commonName 2043delG
CFMDB_1270 protEffect p.Asp639Tyr
CFMDB_1270 commonName D639Y
CFMDB_969 protEffect p.Phe640X
CFMDB_969 commonName 2051delTT
CFMDB_1737 protEffect p.Phe640Phe
CFMDB_1889 protEffect p.Ser641IlefsX23
CFMDB_328 protEffect p.Ser641ArgfsX5
CFMDB_328 commonName 2055del9- >A
CFMDB_824 commonName 2064C/G
CFMDB_981 commonName 2082C/T
CFMDB_1259 protEffect p.Asp651His
CFMDB_1259 commonName D651H
CFMDB_961 protEffect p.Asp651Asn
CFMDB_961 commonName D651N
CFMDB_1030 protEffect p.Ser654Gly
CFMDB_1030 commonName 2092A/G
CFMDB_761 protEffect p.Glu656X
CFMDB_761 commonName E656X
CFMDB_1194 protEffect p.Arg658LysfsX7
CFMDB_1194 commonName 2104insA+ 2109- 2118del10
CFMDB_1283 protEffect p.Arg658LysfsX4
CFMDB_1283 commonName 2105- 2117del13insAGAAA
CFMDB_1056 protEffect p.Asn659IlefsX4
CFMDB_1056 commonName 2108delA
CFMDB_1544 protEffect p.Ser660Thr
CFMDB_1544 commonName S660T
CFMDB_330 protEffect p.Ile661SerfsX2
CFMDB_330 commonName 2113delA
CFMDB_1093 protEffect p.Thr663ArgfsX8
CFMDB_1093 commonName 2116delCTAA
CFMDB_331 protEffect p.Thr663ArgfsX8
CFMDB_331 commonName 2118del4
CFMDB_332 protEffect p.Glu664X
CFMDB_332 commonName E664X
CFMDB_333 protEffect p.Thr665Ser
CFMDB_333 commonName T665S
CFMDB_764 protEffect p.Arg668Cys
CFMDB_764 commonName R668C
CFMDB_334 protEffect p.Leu671IlefsX18
CFMDB_334 commonName 2141insA
CFMDB_335 protEffect p.Leu671X
CFMDB_335 commonName 2143delT
CFMDB_714 protEffect p.Glu672del
CFMDB_714 commonName E672del
CFMDB_336 protEffect p.Gly673X
CFMDB_336 commonName G673X
CFMDB_1534 protEffect p.Asp674Val
CFMDB_1534 commonName D674V
CFMDB_1066 protEffect p.Trp679X
CFMDB_1066 commonName W679X
CFMDB_337 protEffect p.Gln685ThrfsX4
CFMDB_337 commonName 2176insC
CFMDB_1718 protEffect p.Thr682GlnfsX40
CFMDB_1102 protEffect p.Lys683Arg
CFMDB_1102 commonName K683R
CFMDB_758 protEffect p.Lys684ThrfsX4
CFMDB_758 commonName 2183delAA
CFMDB_338 protEffect p.Lys684SerfsX38
CFMDB_338 commonName 2183AA- >G
CFMDB_1437 commonName 2184A/G
CFMDB_340 protEffect p.Gln685ThrfsX4
CFMDB_340 commonName 2184insA
CFMDB_339 protEffect p.Lys684AsnfsX38
CFMDB_339 commonName 2184delA
CFMDB_1060 protEffect p.Gln685ProfsX4
CFMDB_1060 commonName 2185insC
CFMDB_341 protEffect p.Gln685X
CFMDB_341 commonName Q685X
CFMDB_1526 protEffect p.Ser686Tyr
CFMDB_1526 commonName S686Y
CFMDB_1396 protEffect p.Lys688PhefsX?
CFMDB_1396 commonName 2193ins4
CFMDB_1609 protEffect p.Lys688X
CFMDB_1609 commonName K688X
CFMDB_1339 protEffect p.Gln689X
CFMDB_1339 commonName Q689X
CFMDB_342 protEffect p.Glu692X
CFMDB_342 commonName E692X
CFMDB_343 protEffect p.Phe693Leu
CFMDB_343 commonName F693L(CTT)
CFMDB_1209 protEffect p.Phe693Leu
CFMDB_1209 commonName F693L(TTG)
CFMDB_1180 protEffect p.Glu695GlyfsX35
CFMDB_1180 commonName 2215insG
CFMDB_1733 protEffect p.Lys696Arg
CFMDB_1594 protEffect p.Arg697LysfsX33
CFMDB_1594 commonName 2221insA
CFMDB_766 commonName 2238C/G
CFMDB_344 protEffect p.Arg709X
CFMDB_344 commonName R709X
CFMDB_1285 protEffect p.Arg709Gln
CFMDB_1285 commonName R709Q
CFMDB_345 protEffect p.Lys710X
CFMDB_345 commonName K710X
CFMDB_1305 protEffect p.Ser712Cys
CFMDB_1305 commonName S712C
CFMDB_1661 protEffect p.Gln715X
CFMDB_1661 commonName Q715X
CFMDB_346 protEffect p.Lys716X
CFMDB_346 commonName K716X
CFMDB_347 protEffect p.Leu719X
CFMDB_347 commonName L719X
CFMDB_1333 protEffect p.Gln720MetfsX11
CFMDB_1333 commonName 2289- 2295del7bpinsGT
CFMDB_1048 protEffect p.Gln720X
CFMDB_1048 commonName Q720X
CFMDB_1306 protEffect p.Gly723Val
CFMDB_1306 commonName G723V
CFMDB_799 protEffect p.Glu725Lys
CFMDB_799 commonName E725K
CFMDB_348 protEffect p.Glu726ArgfsX4
CFMDB_348 commonName 2307insA
CFMDB_349 protEffect p.Glu730X
CFMDB_349 commonName E730X
CFMDB_350 protEffect p.Leu732X
CFMDB_350 commonName L732X
CFMDB_1153 protEffect p.Arg735GlyfsX4
CFMDB_1153 commonName 2335delA
CFMDB_1222 protEffect p.Arg735Lys
CFMDB_1222 commonName R735K
CFMDB_1391 protEffect p.Ser737Phe
CFMDB_1391 commonName S737F
CFMDB_1393 protEffect p.Ser737Phe
CFMDB_1393 commonName S737F
CFMDB_351 protEffect p.Val739TyrfsX16
CFMDB_351 commonName 2347delG
CFMDB_1461 protEffect p.Gly745X
CFMDB_1461 commonName G745X(Gly745X)
CFMDB_352 protEffect p.Ile748SerfsX28
CFMDB_352 commonName 2372del8
CFMDB_715 commonName 2377C/T
CFMDB_1648 protEffect p.Pro750GlnfsX26
CFMDB_1648 commonName 2380_2387del
CFMDB_1103 protEffect p.Pro750Leu
CFMDB_1103 commonName P750L
CFMDB_1870 protEffect p.Arg751Cys
CFMDB_1870 commonName R751C
CFMDB_1307 protEffect p.Arg751Pro
CFMDB_1307 commonName R751P
CFMDB_1987 protEffect p.Arg751Leu
CFMDB_1425 protEffect p.Ile752Ser
CFMDB_1425 commonName I752S
CFMDB_1649 protEffect No Changes
CFMDB_1649 commonName 2391 C/T
CFMDB_1657 protEffect p.Ser753Arg
CFMDB_1657 commonName S753R
CFMDB_1755 protEffect p.Ser753Arg
CFMDB_610 protEffect p.Val754Met
CFMDB_610 commonName V754M
CFMDB_1621 protEffect p.Pro759HisfsX19
CFMDB_1621 commonName 2406delCC
CFMDB_1691 protEffect p.Thr760ArgfsX11
CFMDB_1691 commonName 2409delC
CFMDB_1049 protEffect p.Thr760Met
CFMDB_1049 commonName T760M
CFMDB_1617 commonName 2412G/A
CFMDB_1390 protEffect p.Gln762His
CFMDB_1390 commonName 2418GG>T
CFMDB_353 protEffect p.Arg764X
CFMDB_353 commonName R764X
CFMDB_354 protEffect p.Arg764GlnfsX7
CFMDB_354 commonName 2423delG
CFMDB_1736 protEffect p.Arg765Ser
CFMDB_355 protEffect p.Arg766Met
CFMDB_355 commonName R766M
CFMDB_1207 protEffect p.His775LeufsX3
CFMDB_1207 commonName 2456delAC
CFMDB_757 protEffect p.Ser776X
CFMDB_757 commonName S776X
CFMDB_745 protEffect p.Gln781X
CFMDB_745 commonName Q781X
CFMDB_1195 protEffect p.Asn782Lys
CFMDB_1195 commonName N782K
CFMDB_356 protEffect p.Arg785X
CFMDB_356 commonName R785X
CFMDB_1208 protEffect p.Thr788fsX?
CFMDB_1208 commonName 2493ins8
CFMDB_1581 protEffect p.Thr788Ile
CFMDB_1581 commonName T788I
CFMDB_358 protEffect p.Arg792Gly
CFMDB_358 commonName R792G
CFMDB_357 protEffect p.Arg792X
CFMDB_357 commonName R792X
CFMDB_1697 protEffect p.Val794CysfsX9
CFMDB_1697 commonName 2512delG
CFMDB_359 protEffect p.Gln799SerfsX6
CFMDB_359 commonName 2522insC
CFMDB_1868 protEffect p.Pro798Ser
CFMDB_1868 commonName P798S
CFMDB_360 protEffect p.Ala800Gly
CFMDB_360 commonName A800G
CFMDB_1585 protEffect p.Asp806Gly
CFMDB_1585 commonName D806G
CFMDB_1579 protEffect p.Ile807Val
CFMDB_1579 commonName I807V
CFMDB_866 protEffect p.Ile807Met
CFMDB_866 commonName I807M
CFMDB_767 protEffect p.Ile807Met
CFMDB_767 commonName 2553A/G
CFMDB_361 protEffect p.Ser809IlefsX13
CFMDB_361 commonName 2556insAT
CFMDB_1221 protEffect p.Arg810Gly
CFMDB_1221 commonName R810G
CFMDB_1742 protEffect p.Leu812TyrfsX10
CFMDB_362 protEffect p.Leu812PhefsX11
CFMDB_362 commonName 2566insT
CFMDB_1265 protEffect p.Ser813Pro
CFMDB_1265 commonName S813P
CFMDB_1670 protEffect p.Gln814X
CFMDB_1670 commonName Q814X
CFMDB_1908 protEffect p.Gly817Val
CFMDB_1504 protEffect p.Leu818TrpfsX3
CFMDB_1504 commonName 2585delT
CFMDB_1791 protEffect p.Ser821ArgfsX4
CFMDB_363 protEffect p.Glu822Lys
CFMDB_363 commonName E822K
CFMDB_364 protEffect p.Glu822X
CFMDB_364 commonName E822X
CFMDB_800 protEffect p.Glu823X
CFMDB_800 commonName E823X
CFMDB_365 protEffect p.Asn825ThrfsX5
CFMDB_365 commonName 2603delT
CFMDB_366 protEffect p.Glu826Lys
CFMDB_366 commonName E826K
CFMDB_367 protEffect p.Glu827X
CFMDB_367 commonName E827X
CFMDB_1308 protEffect p.Asp828Gly
CFMDB_1308 commonName D828G
CFMDB_1152 commonName L829L (2619A/G)
CFMDB_368 protEffect p.Lys830X
CFMDB_368 commonName K830X
CFMDB_1426 commonName 2622+ 2T>C
CFMDB_849 commonName 2622+ 2del6
CFMDB_369 commonName 2622+ 1G- >A
CFMDB_1196 commonName 2622+ 1G- >T
CFMDB_811 commonName 2622+ 14G/A
CFMDB_1595 commonName 2623- 11 C- >T
CFMDB_1309 commonName 2623- 2A- >G
CFMDB_370 protEffect p.Glu831X
CFMDB_370 commonName E831X
CFMDB_1612 commonName 2623- 23A- >G
CFMDB_837 protEffect p.Asp835X
CFMDB_837 commonName 2634insT
CFMDB_1775 protEffect p.Phe834Leu
CFMDB_1637 protEffect p.Phe834LeufsX10
CFMDB_1637 commonName 2634delT
CFMDB_371 protEffect p.Asp836Tyr
CFMDB_371 commonName D836Y
CFMDB_879 protEffect p.Asp836GlufsX8
CFMDB_879 commonName 2640delT
CFMDB_1541 protEffect p.Ile840Thr
CFMDB_1541 commonName I840T
CFMDB_1253 protEffect p.Pro841Arg
CFMDB_1253 commonName P841R
CFMDB_372 protEffect p.Trp846X
CFMDB_372 commonName W846X
CFMDB_373 protEffect p.Trp846X
CFMDB_373 commonName W846X (2670TGG>TGA)
CFMDB_1057 protEffect p.Tyr849X
CFMDB_1057 commonName Y849X
CFMDB_374 protEffect p.Arg851X
CFMDB_374 commonName R851X
CFMDB_670 protEffect p.Arg851Leu
CFMDB_670 commonName R851L
CFMDB_1696 protEffect p.Tyr852X
CFMDB_1696 commonName Y852X
CFMDB_768 commonName 2691T/C
CFMDB_1114 commonName 2694T/C
CFMDB_769 commonName 2694T/G
CFMDB_1181 protEffect p.Val855SerfsX5
CFMDB_1181 commonName 2694delT
CFMDB_954 protEffect p.Val855Ile
CFMDB_954 commonName V855I
CFMDB_1798 protEffect p.His856LeufsX40
CFMDB_759 commonName 2703G/A
CFMDB_375 protEffect p.Phe861LeufsX3
CFMDB_375 commonName 2711delT
CFMDB_1857 protEffect p.Ile860Thr
CFMDB_1857 commonName I860T
CFMDB_376 protEffect p.Ile864SerfsX28
CFMDB_376 commonName 2721del11
CFMDB_701 protEffect p.Ile864MetfsX31
CFMDB_701 commonName 2723delTT
CFMDB_1436 protEffect p.Cys866Gly
CFMDB_1436 commonName C866R
CFMDB_1444 protEffect p.Cys866Ser
CFMDB_1444 commonName C866S
CFMDB_377 protEffect p.Cys866Tyr
CFMDB_377 commonName C866Y
CFMDB_705 protEffect p.Leu867X
CFMDB_705 commonName L867X
CFMDB_1081 protEffect p.Val868SerfsX28
CFMDB_1081 commonName 2732insA
CFMDB_378 protEffect p.Val868X
CFMDB_378 commonName 2734G- >AT
CFMDB_770 protEffect No Changes
CFMDB_770 commonName 2736G/A
CFMDB_1596 protEffect p.Ala872GlufsX34
CFMDB_1596 commonName 2747delC
CFMDB_379 commonName 2751G- >A
CFMDB_380 commonName 2751+ 3A- >G
CFMDB_990 commonName IVS14a+ 17del5
CFMDB_671 commonName 2751+ 2T- >A
CFMDB_1310 commonName 2752- 97C- >T
CFMDB_929 commonName 2752- 15C/G
CFMDB_1311 commonName 2752- 6T- >C
CFMDB_1017 commonName 2752- 1G- >C
CFMDB_1358 commonName 2752- 17G/A
CFMDB_381 commonName 2752- 26A- >G
CFMDB_382 commonName 2752- 1G- >T
CFMDB_1677 commonName 2752- 2A>G
CFMDB_928 commonName 2752- 22A/G
CFMDB_1832 commonName 2752- 33insA
CFMDB_1872 protEffect p.Ser877del
CFMDB_1872 commonName S877del
CFMDB_383 protEffect p.Leu878PhefsX15
CFMDB_383 commonName 2766del8
CFMDB_385 protEffect p.Trp882X
CFMDB_385 commonName W882X
CFMDB_1478 protEffect p.Asn886ThrfsX15
CFMDB_1478 commonName 2787del16
CFMDB_930 commonName 2789+ 32T/C
CFMDB_835 commonName 2789+ 2insA
CFMDB_386 commonName 2789+ 3delG
CFMDB_387 commonName 2789+ 5G>A
CFMDB_931 commonName 2790- 108G/C
CFMDB_389 commonName 2790- 1G- >C
CFMDB_390 commonName 2790- 1G- >T
CFMDB_932 commonName 2790- 21G/A
CFMDB_388 commonName 2790- 2A- >G
CFMDB_391 protEffect p.Gln890X
CFMDB_391 commonName Q890X
CFMDB_973 protEffect p.Gln890Arg
CFMDB_973 commonName Q890R
CFMDB_886 protEffect p.Asp891Gly
CFMDB_886 commonName D891G
CFMDB_1620 commonName 2811G/T
CFMDB_1154 protEffect p.Ser895Thr
CFMDB_1154 commonName S895T
CFMDB_1799 protEffect p.Thr896IlefsX3
CFMDB_1168 protEffect p.Thr896Ile
CFMDB_1168 commonName T896I
CFMDB_1392 protEffect p.Thr896IlefsX9
CFMDB_1392 commonName 2819del4bpins13bp
CFMDB_1155 protEffect p.Asn900Thr
CFMDB_1155 commonName N900T
CFMDB_1970 protEffect p.Ser902ThrfsX4
CFMDB_1227 protEffect p.Ser902Arg
CFMDB_1227 commonName S902R
CFMDB_771 protEffect p.Tyr903His
CFMDB_771 commonName 2839T/C
CFMDB_976 commonName 2844A/T
CFMDB_1095 protEffect p.Ile907Val
CFMDB_1095 commonName 2851A/G
CFMDB_706 protEffect p.Thr908Asn
CFMDB_706 commonName T908N
CFMDB_842 commonName 2856C/T
CFMDB_772 protEffect p.Ser909Ile
CFMDB_772 commonName 2858G/T
CFMDB_1293 protEffect p.Ser911Arg
CFMDB_1293 commonName S911R
CFMDB_392 protEffect p.Ser912Leu
CFMDB_392 commonName S912L
CFMDB_393 protEffect p.Ser912X
CFMDB_393 commonName S912X
CFMDB_1564 commonName 2868 G/A
CFMDB_394 protEffect p.Tyr913X
CFMDB_394 commonName 2869insG
CFMDB_395 protEffect p.Tyr913Cys
CFMDB_395 commonName Y913C
CFMDB_1500 protEffect p.Tyr913X
CFMDB_1500 commonName Y913X
CFMDB_1686 protEffect p.Tyr914Cys
CFMDB_1686 commonName Y914C
CFMDB_1772 protEffect p.Val915Leu
CFMDB_615 protEffect p.Tyr917Asp
CFMDB_615 commonName Y917D
CFMDB_396 protEffect p.Tyr917Cys
CFMDB_396 commonName Y917C
CFMDB_1197 protEffect p.Ile918Met
CFMDB_1197 commonName I918M
CFMDB_397 protEffect p.Tyr919Cys
CFMDB_397 commonName Y919C
CFMDB_398 protEffect p.Val920Met
CFMDB_398 commonName V920M
CFMDB_1198 protEffect p.Val920Leu
CFMDB_1198 commonName V920L
CFMDB_1853 protEffect p.Gly921Glu
CFMDB_1853 commonName G921E
CFMDB_1360 protEffect p.Val922Leu
CFMDB_1360 commonName V922L
CFMDB_713 protEffect p.Val922GlufsX2
CFMDB_713 commonName 2896insAG
CFMDB_773 commonName 2901C/T
CFMDB_1199 protEffect p.Asp924Asn
CFMDB_1199 commonName D924N
CFMDB_1844 protEffect p.Asp924Tyr
CFMDB_1844 commonName D924Y
CFMDB_399 protEffect p.Leu926AlafsX48
CFMDB_399 commonName 2907delTT
CFMDB_400 protEffect p.Leu926CysfsX16
CFMDB_400 commonName 2909delT
CFMDB_1902 protEffect p.Leu926Phe
CFMDB_401 protEffect p.Leu927Pro
CFMDB_401 commonName L927P
CFMDB_1971 protEffect p.Gly930AspfsX12
CFMDB_1156 protEffect p.Phe932Ser
CFMDB_1156 commonName F932S
CFMDB_1340 protEffect p.Arg933Gly
CFMDB_1340 commonName R933G
CFMDB_619 protEffect p.Arg933Ser
CFMDB_619 commonName R933S
CFMDB_1972 protEffect p.Leu935AlafsX36
CFMDB_1929 protEffect p.Leu941X
CFMDB_1881 protEffect p.Pro936Thr
CFMDB_1171 commonName 2940A/G
CFMDB_1067 protEffect p.Val938GlyfsX37
CFMDB_1067 commonName 2942insT
CFMDB_1443 protEffect p.Val938Leu
CFMDB_1443 commonName V938L
CFMDB_620 protEffect p.Val938Gly
CFMDB_620 commonName V938G
CFMDB_402 protEffect p.His939Asp
CFMDB_402 commonName H939D
CFMDB_1018 protEffect p.His439ProfsX
CFMDB_1018 commonName 2948AT- >C
CFMDB_707 protEffect p.His939Arg
CFMDB_707 commonName H939R
CFMDB_1913 protEffect p.Thr940Thr
CFMDB_1833 protEffect p.Ile942ThrfsX26
CFMDB_1833 commonName 2957delT
CFMDB_403 protEffect p.Ser945Leu
CFMDB_403 commonName S945L
CFMDB_622 commonName 2967G/A
CFMDB_616 protEffect p.Lys946X
CFMDB_616 commonName K946X
CFMDB_404 protEffect p.His949Tyr
CFMDB_404 commonName H949Y
CFMDB_405 protEffect p.His949Arg
CFMDB_405 commonName H949R
CFMDB_1489 protEffect p.His949Leu
CFMDB_1489 commonName H949L
CFMDB_1058 protEffect p.Met952Thr
CFMDB_1058 commonName M952T
CFMDB_406 protEffect p.Met952Ile
CFMDB_406 commonName M952I
CFMDB_407 protEffect p.Leu953PhefsX11
CFMDB_407 commonName 2991del32
CFMDB_1767 protEffect p.His954Pro
CFMDB_408 protEffect p.Ala959HisfsX9
CFMDB_408 commonName 3007delG
CFMDB_1345 protEffect p.Ala959Val
CFMDB_1345 commonName A959V
CFMDB_1777 protEffect p.Ala959AspfsX9
CFMDB_1131 protEffect p.Met961Ile
CFMDB_1131 commonName M961I
CFMDB_617 protEffect p.Thr966ArgfsX2
CFMDB_617 commonName 3028delA
CFMDB_774 commonName 3030G/A
CFMDB_809 protEffect p.Leu967Ser
CFMDB_809 commonName L967S
CFMDB_643 commonName 3040+ 2T- >C
CFMDB_1312 commonName 3040+ 23T- >C
CFMDB_1635 commonName CFTR- dele 16- 17a- 17b
CFMDB_409 protEffect p.Gly970Arg
CFMDB_409 commonName G970R
CFMDB_1619 protEffect p.Gly970Ser
CFMDB_1619 commonName G970S
CFMDB_1597 commonName 3040+ 11A/T
CFMDB_934 commonName 3041- 71G/C
CFMDB_935 commonName 3041- 52C/G
CFMDB_1219 commonName 3041- 11del7
CFMDB_410 commonName 3041- 1G- >A
CFMDB_1220 commonName 3041- 15T- >G
CFMDB_1330 commonName 3041- 4A- >G
CFMDB_1563 commonName 3041- 51 T/G
CFMDB_933 commonName 3041- 92G/A
CFMDB_734 protEffect p.Gly970Asp
CFMDB_734 commonName G970D
CFMDB_411 protEffect p.Gly970ValfsX11
CFMDB_411 commonName 3041delG
CFMDB_672 protEffect p.Leu973Phe
CFMDB_672 commonName L973F
CFMDB_1141 protEffect p.Leu973Pro
CFMDB_1141 commonName L973P
CFMDB_1445 protEffect p.Leu973His
CFMDB_1445 commonName L973H
CFMDB_412 protEffect p.Arg975IlefsX10
CFMDB_412 commonName 3056delGA
CFMDB_413 protEffect p.Ser977Pro
CFMDB_413 commonName S977P
CFMDB_743 protEffect p.Ser977Phe
CFMDB_743 commonName S977F
CFMDB_1906 protEffect p.Ser977Cys
CFMDB_1749 protEffect p.Lys978X
CFMDB_1862 protEffect p.Lys978X
CFMDB_1862 commonName K978X
CFMDB_674 protEffect p.Asp979Val
CFMDB_674 commonName D979V
CFMDB_673 protEffect p.Asp979Ala
CFMDB_673 commonName D979A
CFMDB_414 protEffect p.Ile980Lys
CFMDB_414 commonName I980K
CFMDB_1625 protEffect p.Ile980Met
CFMDB_1625 commonName I980M
CFMDB_717 protEffect p.Leu983GlyfsX2
CFMDB_717 commonName 3079delTT
CFMDB_880 protEffect p.Asp985His
CFMDB_880 commonName D985H
CFMDB_415 protEffect p.Asp985Tyr
CFMDB_415 commonName D985Y
CFMDB_1782 protEffect p.Pro988Arg
CFMDB_1756 protEffect p.Thr990Ser
CFMDB_416 protEffect p.Thr990AsnfsX4
CFMDB_416 commonName 3100insA
CFMDB_1100 protEffect p.Ile991Val
CFMDB_1100 commonName I991V
CFMDB_417 protEffect p.Asp993Tyr
CFMDB_417 commonName D993Y
CFMDB_1634 protEffect p.Asp993Gly
CFMDB_1634 commonName D993G
CFMDB_797 protEffect p.Phe994Cys
CFMDB_797 commonName F994C
CFMDB_418 commonName 3120G- >A
CFMDB_1313 commonName 3120+ 198G- >A
CFMDB_419 commonName 3120+ 1G- >A
CFMDB_1172 commonName 3120+ 45A/G
CFMDB_1645 commonName 3120+ 35 A- >T
CFMDB_1765 commonName 3120+ 33G>T
CFMDB_1344 commonName 3120+ 41delA
CFMDB_1668 commonName 3121- 14C/A
CFMDB_1337 commonName 3121- 3C- >G
CFMDB_422 commonName 3121- 1G- >A
CFMDB_421 commonName 3121- 2A- >G
CFMDB_420 commonName 3121- 2A- >T
CFMDB_936 commonName 3121- 92A12/13
CFMDB_776 protEffect p.Leu997Phe
CFMDB_776 commonName L997F
CFMDB_853 protEffect p.Ile1000X
CFMDB_853 commonName 3126del4
CFMDB_423 protEffect p.Ile1000X
CFMDB_423 commonName 3129del4
CFMDB_424 protEffect p.Val1001_Ile1005del
CFMDB_424 commonName 3131del15
CFMDB_1289 protEffect p.Ile1000_Ile1005del
CFMDB_1289 commonName 3130del15
CFMDB_1376 protEffect p.Ile1000LeufsX2
CFMDB_1376 commonName 3130delA
CFMDB_425 protEffect p.Val1001AspfsX45
CFMDB_425 commonName 3132delTG
CFMDB_1964 protEffect p.Val1001Met
CFMDB_1166 protEffect p.Gly1003X
CFMDB_1166 commonName G1003X
CFMDB_1676 protEffect p.Gly1003Glu
CFMDB_1676 commonName G1003E
CFMDB_1470 protEffect p.Ala1004_Ala1006del
CFMDB_1470 commonName 3141del9
CFMDB_426 protEffect p.Ile1005Arg
CFMDB_426 commonName I1005R
CFMDB_427 protEffect p.Ala1006Glu
CFMDB_427 commonName A1006E
CFMDB_1262 protEffect p.Val1008SerfsX15
CFMDB_1262 commonName 3152delT
CFMDB_428 protEffect p.Val1008SerfsX15
CFMDB_428 commonName 3153delT
CFMDB_875 protEffect p.Val1008SerfsX15
CFMDB_875 commonName 3154delG
CFMDB_763 protEffect p.Val1008Asp
CFMDB_763 commonName V1008D
CFMDB_1101 protEffect p.Ala1009Thr
CFMDB_1101 commonName A1009T
CFMDB_583 protEffect p.Pro1013Leu
CFMDB_583 commonName P1013L
CFMDB_1372 protEffect p.Pro1013His
CFMDB_1372 commonName P1013H
CFMDB_429 protEffect p.Tyr1014LeufsX33
CFMDB_429 commonName 3171insC
CFMDB_1080 protEffect p.Tyr1014ThrfsX9
CFMDB_1080 commonName 3171delC
CFMDB_582 protEffect p.Ile1015LeufsX31
CFMDB_582 commonName 3173delAC
CFMDB_829 protEffect p.Tyr1014Cys
CFMDB_829 commonName Y1014C
CFMDB_1398 protEffect p.Phe1016Ser
CFMDB_1398 commonName F1016S
CFMDB_1598 protEffect p.Val1020Glu
CFMDB_1598 commonName V1020E
CFMDB_1263 protEffect p.Pro1021Ala
CFMDB_1263 commonName P1021A
CFMDB_736 protEffect p.Pro1021Ser
CFMDB_736 commonName P1021S
CFMDB_430 protEffect p.Ile1023_Val1024del
CFMDB_430 commonName 3195del6
CFMDB_431 protEffect p.Val1022_Gln1039del
CFMDB_431 commonName 3196del54
CFMDB_828 protEffect p.Ile1023_Val1024del
CFMDB_828 commonName 3199del6
CFMDB_1650 protEffect p.Ile1023SerfsX22
CFMDB_1650 commonName 3200_3204delTAGTG
CFMDB_1858 protEffect p.Ile1023Thr
CFMDB_1858 commonName I1023T
CFMDB_1385 protEffect p.Ala1025Asp
CFMDB_1385 commonName A1025D
CFMDB_1567 protEffect p.Ile1027Thr
CFMDB_1567 commonName I1027T
CFMDB_1169 protEffect p.Met1028Arg
CFMDB_1169 commonName M1028R
CFMDB_584 protEffect p.Met1028Ile
CFMDB_584 commonName M1028I
CFMDB_1400 protEffect p.Tyr1032Asn
CFMDB_1400 commonName Y1032N
CFMDB_721 protEffect p.Tyr1032Cys
CFMDB_721 commonName Y1032C
CFMDB_1409 protEffect p.Gln1035X
CFMDB_1409 commonName Q1035X
CFMDB_1469 protEffect p.Thr1036LeufsX?
CFMDB_1469 commonName 3238delA
CFMDB_1783 protEffect p.Leu1040Phe
CFMDB_2013 protEffect p.Leu1040Arg
CFMDB_1142 protEffect p.Gln1042X
CFMDB_1142 commonName Q1042X
CFMDB_1722 protEffect p.Glu1044Gly
CFMDB_1973 protEffect p.Glu1046X
CFMDB_937 commonName 3271+ 18C/T
CFMDB_827 commonName 3271+ 101C/G
CFMDB_1314 protEffect p.Gly1047Arg
CFMDB_1314 commonName G1047R
CFMDB_1672 commonName 3271+ 1G>T
CFMDB_1508 commonName 3271+ 8A>G
CFMDB_938 commonName 3271+ 42A/T
CFMDB_1666 commonName 3271+ 80A/T
CFMDB_1104 commonName 3271+ 183 T to G
CFMDB_434 commonName 3271+ 1G- >A
CFMDB_970 protEffect p.Gly1047GlnfsX28
CFMDB_970 commonName 3271delGG
CFMDB_675 protEffect p.Gly1047Asp
CFMDB_675 commonName G1047D
CFMDB_436 commonName 3272- 4A- >G
CFMDB_437 commonName 3272- 1G- >A
CFMDB_1351 commonName 3272- 11A- >G
CFMDB_433 commonName 3272- 9A- >T
CFMDB_432 commonName 3272- 54del704
CFMDB_1562 commonName 3272- 42 G/T
CFMDB_435 commonName 3272- 26A- >G
CFMDB_1089 commonName 3272- 33A/G
CFMDB_1540 protEffect p.Arg1048Gly
CFMDB_1540 commonName R1048G
CFMDB_1747 protEffect p.Pro1050Ala
CFMDB_1397 protEffect p.Ile1051Val
CFMDB_1397 commonName I1051V
CFMDB_438 protEffect p.Phe1052Val
CFMDB_438 commonName F1052V
CFMDB_977 protEffect p.Thr1053Ile
CFMDB_977 commonName T1053I
CFMDB_439 protEffect p.His1054Asp
CFMDB_439 commonName H1054D
CFMDB_1577 protEffect p.His1054Arg
CFMDB_1577 commonName H1054R
CFMDB_1523 protEffect p.His1054Leu
CFMDB_1523 commonName H1054 L
CFMDB_440 protEffect p.His1054LeufsX6
CFMDB_440 commonName 3293delA
CFMDB_676 protEffect p.Thr1057Ala
CFMDB_676 commonName T1057A
CFMDB_441 protEffect p.Leu1059X
CFMDB_441 commonName L1059X
CFMDB_777 commonName L1059L (3309A/G)
CFMDB_442 protEffect p.Lys1060Thr
CFMDB_442 commonName K1060T
CFMDB_443 protEffect p.Gly1061Arg
CFMDB_443 commonName G1061R
CFMDB_2011 protEffect p.Leu1062Leu
CFMDB_444 protEffect p.Trp1063CysfsX22
CFMDB_444 commonName 3320ins5
CFMDB_445 protEffect p.Trp1063X
CFMDB_445 commonName W1063X
CFMDB_801 protEffect p.Leu1065Phe
CFMDB_801 commonName L1065F
CFMDB_447 protEffect p.Leu1065Arg
CFMDB_447 commonName L1065R
CFMDB_446 protEffect p.Leu1065Pro
CFMDB_446 commonName L1065P
CFMDB_448 protEffect p.Arg1066Cys
CFMDB_448 commonName R1066C
CFMDB_449 protEffect p.Arg1066Ser
CFMDB_449 commonName R1066S
CFMDB_1974 protEffect p.Arg1066Gly
CFMDB_450 protEffect p.Arg1066His
CFMDB_450 commonName R1066H
CFMDB_451 protEffect p.Arg1066Leu
CFMDB_451 commonName R1066L
CFMDB_452 protEffect p.Ala1067Thr
CFMDB_452 commonName A1067T
CFMDB_1631 protEffect p.Ala1067Pro
CFMDB_1631 commonName A1067P
CFMDB_1758 protEffect p.Ala1067ThrfsX16
CFMDB_1450 protEffect p.Ala1067Gly
CFMDB_1450 commonName A1067G
CFMDB_1200 protEffect p.Ala1067Asp
CFMDB_1200 commonName A1067D
CFMDB_778 protEffect p.Ala1067Val
CFMDB_778 commonName A1067V
CFMDB_779 commonName 3333C/T
CFMDB_780 commonName 3336C/T
CFMDB_453 protEffect p.Gly1069Arg
CFMDB_453 commonName G1069R
CFMDB_454 protEffect p.Arg1070Trp
CFMDB_454 commonName R1070W
CFMDB_455 protEffect p.Arg1070Gln
CFMDB_455 commonName R1070Q
CFMDB_589 protEffect p.Arg1070Pro
CFMDB_589 commonName R1070P
CFMDB_1357 protEffect p.Gln1071X
CFMDB_1357 commonName Q1071X
CFMDB_456 protEffect p.Gln1071Pro
CFMDB_456 commonName Q1071P
CFMDB_1120 protEffect p.Gln1071His
CFMDB_1120 commonName Q1071H
CFMDB_963 protEffect p.Pro1072Leu
CFMDB_963 commonName P1072L
CFMDB_1294 protEffect p.Tyr1073Cys
CFMDB_1294 commonName Y1073C
CFMDB_2010 protEffect p.Phe1074Leu
CFMDB_457 protEffect p.Phe1074Leu
CFMDB_457 commonName F1074L
CFMDB_458 protEffect p.Leu1077ValfsX78
CFMDB_458 commonName 3359delCT
CFMDB_459 protEffect p.Leu1077Pro
CFMDB_459 commonName L1077P
CFMDB_2005 protEffect p.Phe1078Ile
CFMDB_1738 protEffect p.Phe1078Ser
CFMDB_1474 protEffect p.His1079Pro
CFMDB_1474 commonName H1079P
CFMDB_1863 protEffect p.Lys1080Gln
CFMDB_1863 commonName K1080Q
CFMDB_1359 protEffect p.Lys1080Arg
CFMDB_1359 commonName K1080R
CFMDB_1966 protEffect p.Lys1080Ile
CFMDB_1212 protEffect p.Ala1081Pro
CFMDB_1212 commonName A1081P
CFMDB_781 commonName 3384A/G
CFMDB_460 protEffect p.His1085Arg
CFMDB_460 commonName H1085R
CFMDB_1354 protEffect p.Thr1086Ala
CFMDB_1354 commonName T1086A
CFMDB_461 protEffect p.Thr1086Ile
CFMDB_461 commonName T1086I
CFMDB_1468 protEffect p.Ala1087Pro
CFMDB_1468 commonName A1087P
CFMDB_855 protEffect p.Asn1088Asp
CFMDB_855 commonName N1088D
CFMDB_1711 protEffect p.Asn1088LysfsX68
CFMDB_1115 protEffect p.Trp1089GlyfsX13
CFMDB_1115 commonName 3396delC
CFMDB_462 protEffect p.Trp1089X
CFMDB_462 commonName W1089X
CFMDB_747 protEffect p.Tyr1092His
CFMDB_747 commonName Y1092H
CFMDB_1488 protEffect p.Tyr1092Cys
CFMDB_1488 commonName Y1092C
CFMDB_463 protEffect p.Tyr1092X
CFMDB_463 commonName Y1092X(C- >A)
CFMDB_464 protEffect p.Tyr1092X
CFMDB_464 commonName Y1092X(C- >G)
CFMDB_594 protEffect p.Leu1093Pro
CFMDB_594 commonName L1093P
CFMDB_782 commonName 3417A/T
CFMDB_1110 protEffect p.Leu1096Arg
CFMDB_1110 commonName L1096R
CFMDB_465 protEffect p.Leu1096ArgfsX6
CFMDB_465 commonName 3419delT
CFMDB_466 protEffect p.Trp1098GlyfsX4
CFMDB_466 commonName 3423delC
CFMDB_467 protEffect p.Trp1098Arg
CFMDB_467 commonName W1098R
CFMDB_1641 protEffect p.Trp1098Leu
CFMDB_1641 commonName W1098L
CFMDB_468 protEffect p.Trp1098X
CFMDB_468 commonName W1098X(TAG)
CFMDB_469 protEffect p.Trp1098CysfsX4
CFMDB_469 commonName 3425delG
CFMDB_638 protEffect p.Trp1098X
CFMDB_638 commonName W1098X(TGA)
CFMDB_2003 protEffect p.Trp1098Cys
CFMDB_470 protEffect p.Gln1100Pro
CFMDB_470 commonName Q1100P
CFMDB_472 protEffect p.Met1101Arg
CFMDB_472 commonName M1101R
CFMDB_471 protEffect p.Met1101Lys
CFMDB_471 commonName M1101K
CFMDB_1435 protEffect p.Arg1102X
CFMDB_1435 commonName R1102X
CFMDB_1688 commonName 3438A/G
CFMDB_1937 protEffect p.Ile1103Lys
CFMDB_473 protEffect p.Glu1104X
CFMDB_473 commonName E1104X
CFMDB_1977 protEffect p.Glu1104Lys
CFMDB_1315 protEffect p.Met1105Arg
CFMDB_1315 commonName M1105R
CFMDB_1669 protEffect p.Met1105IlefsX16
CFMDB_1669 commonName 3447delG
CFMDB_1515 protEffect p.Val1108Leu
CFMDB_1515 commonName V1108L
CFMDB_1890 protEffect p.Phe1111ThrfsX10
CFMDB_1849 protEffect p.Phe1111Leu
CFMDB_1849 commonName F1111L
CFMDB_783 commonName 3471T/C
CFMDB_1157 commonName 3477C/A
CFMDB_993 protEffect p.Ser1118Cys
CFMDB_993 commonName S1118C
CFMDB_897 protEffect p.Ser1118Phe
CFMDB_897 commonName S1118F
CFMDB_474 protEffect p.Thr1122GlnfsX12
CFMDB_474 commonName 3495delA
CFMDB_478 commonName 3499+ 2T- >C
CFMDB_941 commonName 3499+ 45T/C
CFMDB_475 protEffect p.Gly1123Arg
CFMDB_475 commonName G1123R
CFMDB_1316 commonName 3499+ 7T- >G
CFMDB_1674 commonName 3499+ 29G/A
CFMDB_940 commonName 3499+ 37G/A
CFMDB_677 commonName 3499+ 3A- >G
CFMDB_476 commonName 3499+ 6A- >G
CFMDB_943 commonName 3500- 140A/C
CFMDB_1561 commonName 3500- 50 A/C
CFMDB_967 commonName 3500- 2A- >G
CFMDB_1588 commonName 3500 - 1 G to A
CFMDB_693 commonName 3500- 44G/A
CFMDB_804 protEffect p.Glu1124del
CFMDB_804 commonName E1123del
CFMDB_477 protEffect p.Gly1127Glu
CFMDB_477 commonName G1127E
CFMDB_678 protEffect p.Arg1128X
CFMDB_678 commonName R1128X
CFMDB_1252 protEffect p.Val1129Gly
CFMDB_1252 commonName V1129G
CFMDB_1651 protEffect p.Val1129Gly
CFMDB_1651 commonName V1129G
CFMDB_1218 protEffect p.Gly1130Ala
CFMDB_1218 commonName G1130A
CFMDB_1055 protEffect p.Ile1131Val
CFMDB_1055 commonName 3523A- >G
CFMDB_881 protEffect p.Thr1134Ala
CFMDB_881 commonName 3532AC- >GTA
CFMDB_1167 protEffect p.Ala1136Thr
CFMDB_1167 commonName A1136T
CFMDB_479 protEffect p.Met1137Val
CFMDB_479 commonName M1137V
CFMDB_1549 protEffect p.Met1137Thr
CFMDB_1549 commonName M1137T
CFMDB_480 protEffect p.Met1137Arg
CFMDB_480 commonName M1137R
CFMDB_481 protEffect p.Ile1139Val
CFMDB_481 commonName I1139V
CFMDB_482 protEffect p.Met1140del
CFMDB_482 commonName [delta]M1140
CFMDB_898 protEffect p.Met1140Lys
CFMDB_898 commonName M1140K
CFMDB_483 protEffect p.Thr1142LysfsX15
CFMDB_483 commonName 3556insAGTA
CFMDB_1170 protEffect p.Thr1142Ile
CFMDB_1170 commonName T1142I
CFMDB_484 protEffect p.Gln1144X
CFMDB_484 commonName Q1144X
CFMDB_1757 protEffect p.Trp1145X
CFMDB_1117 protEffect p.Trp1145X
CFMDB_1117 commonName W1145X
CFMDB_834 protEffect p.Val1147Ile
CFMDB_834 commonName V1147I
CFMDB_1374 protEffect p.Asn1148Ser
CFMDB_1374 commonName N1148S
CFMDB_1126 protEffect p.Asn1148Lys
CFMDB_1126 commonName N1148K
CFMDB_838 protEffect p.Ser1149ProfsX3
CFMDB_838 commonName 3577delT
CFMDB_485 protEffect p.Asp1152His
CFMDB_485 commonName D1152H
CFMDB_679 protEffect p.Val1153Glu
CFMDB_679 commonName V1153E
CFMDB_1662 protEffect p.Asp1154Tyr
CFMDB_1662 commonName D1154Y
CFMDB_486 protEffect p.Asp1154Gly
CFMDB_486 commonName D1154G
CFMDB_1174 commonName 3600+ 2T- >C
CFMDB_1640 protEffect p.Leu1156Phe
CFMDB_1640 commonName L1156F
CFMDB_694 commonName 3600+ 42G/A
CFMDB_488 commonName 3600+ 5G- >A
CFMDB_845 commonName 3600+ 2insT
CFMDB_487 commonName 3600G- >A
CFMDB_945 commonName 3601- 111G/C
CFMDB_944 commonName 3601- 65C/A
CFMDB_608 commonName 3601- 20T- >C
CFMDB_489 commonName 3601- 17T- >C
CFMDB_490 commonName 3601- 2A- >G
CFMDB_491 protEffect p.Arg1158X
CFMDB_491 commonName R1158X
CFMDB_1879 protEffect p.Arg1158Arg
CFMDB_492 protEffect p.Ser1159Pro
CFMDB_492 commonName S1159P
CFMDB_1158 protEffect p.Ser1159Phe
CFMDB_1158 commonName S1159F
CFMDB_1745 protEffect p.Ser1159Tyr
CFMDB_1317 protEffect p.Ser1161Arg
CFMDB_1317 commonName S1161R
CFMDB_493 protEffect p.Arg1162X
CFMDB_493 commonName R1162X
CFMDB_784 protEffect p.Arg1162Leu
CFMDB_784 commonName 3617G/T
CFMDB_1673 protEffect p.Val1163LeufsX2
CFMDB_1673 commonName 3617delGA
CFMDB_607 protEffect p.Lys1165X
CFMDB_607 commonName 3622insT
CFMDB_1903 protEffect p.Lys1165Thr
CFMDB_1366 protEffect p.Phe1166Cys
CFMDB_1366 commonName F1166C
CFMDB_1350 protEffect p.Phe1166SerfsX26
CFMDB_1350 commonName 3629delT
CFMDB_494 protEffect p.Asp1168Gly
CFMDB_494 commonName D1168G
CFMDB_1560 commonName 3636 C/T
CFMDB_495 protEffect p.Lys1177SerfsX15
CFMDB_495 commonName 3659delC
CFMDB_1216 protEffect p.Lys1177X
CFMDB_1216 commonName K1177X
CFMDB_496 protEffect p.Lys1177Arg
CFMDB_496 commonName K1177R
CFMDB_497 protEffect p.Lys1177SerfsX15
CFMDB_497 commonName 3662delA
CFMDB_499 protEffect p.Thr1179IlefsX17
CFMDB_499 commonName 3667ins4
CFMDB_498 protEffect p.Thr1179AsnfsX12
CFMDB_498 commonName 3667del4
CFMDB_1050 protEffect p.Lys1180AsnfsX12
CFMDB_1050 commonName 3670delA
CFMDB_500 protEffect p.Tyr1182X
CFMDB_500 commonName Y1182X
CFMDB_602 protEffect p.Gln1186X
CFMDB_602 commonName Q1186X
CFMDB_785 commonName Q1186Q (3690A/G)
CFMDB_984 commonName 3696G/A
CFMDB_501 protEffect p.Val1190Asp
CFMDB_501 commonName V1190D
CFMDB_1288 protEffect p.Asn1195Thr
CFMDB_1288 commonName N1195T
CFMDB_502 protEffect p.Ser1196X
CFMDB_502 commonName S1196X
CFMDB_503 protEffect p.Val1198X
CFMDB_503 commonName 3724delG
CFMDB_786 commonName 3726G/T
CFMDB_1930 protEffect p.Lys1200SerfsX12
CFMDB_504 protEffect p.Asp1201MetfsX10
CFMDB_504 commonName 3732delA
CFMDB_505 protEffect p.Asp1202AlafsX9
CFMDB_505 commonName 3737delA
CFMDB_1990 protEffect p.Ile1203Val
CFMDB_506 protEffect p.Trp1204X
CFMDB_506 commonName W1204X(3743G- >A)
CFMDB_1511 protEffect p.Trp1204X
CFMDB_1511 commonName W1204X(3744G- >A)
CFMDB_1440 protEffect p.Ser1206X
CFMDB_1440 commonName S1206X(C>A)
CFMDB_623 protEffect p.Ser1206X
CFMDB_623 commonName S1206X
CFMDB_507 protEffect p.Gly1208ProfsX56
CFMDB_507 commonName 3750delAG
CFMDB_960 protEffect p.Gly1208AlafsX3
CFMDB_960 commonName 3755delG
CFMDB_2008 protEffect p.Gln1209His
CFMDB_1399 protEffect p.Met1210Lys
CFMDB_1399 commonName M1210K
CFMDB_508 protEffect p.Met1210Ile
CFMDB_508 commonName M1210I
CFMDB_509 protEffect p.Val1212Ile
CFMDB_509 commonName V1212I
CFMDB_1878 protEffect p.Val1212Phe
CFMDB_1559 commonName 3780 A/C
CFMDB_890 protEffect p.Thr1220AsnfsX45
CFMDB_890 commonName 3789insA
CFMDB_510 protEffect p.Thr1220LysfsX8
CFMDB_510 commonName 3791delC
CFMDB_787 protEffect p.Thr1220Ile
CFMDB_787 commonName 3791C/T
CFMDB_1900 protEffect p.Gly1222ValfsX44
CFMDB_1904 protEffect p.Ala1225Val
CFMDB_812 protEffect p.Leu1227Ser
CFMDB_812 commonName L1227S
CFMDB_1882 protEffect p.Leu1227Leu
CFMDB_1847 protEffect p.Glu1228Lys
CFMDB_1847 commonName E1228K
CFMDB_1084 protEffect p.Glu1228Gly
CFMDB_1084 commonName E1228G
CFMDB_1746 protEffect p.Asn1229Lys
CFMDB_728 protEffect p.Ile1230Thr
CFMDB_728 commonName I1230T
CFMDB_1230 protEffect p.Ser1231ProfsX4
CFMDB_1230 commonName 3821- 3823del T
CFMDB_511 protEffect p.Ser1231ProfsX4
CFMDB_511 commonName 3821delT
CFMDB_628 protEffect p.Ile1234Leu
CFMDB_628 commonName I1234L
CFMDB_512 protEffect p.Ile1234Val
CFMDB_512 commonName I1234V
CFMDB_513 protEffect p.Ser1235Arg
CFMDB_513 commonName S1235R
CFMDB_1975 protEffect p.Gly1237AlafsX22
CFMDB_1127 protEffect p.Gly1237Ser
CFMDB_1127 commonName G1237S
CFMDB_514 protEffect p.Gln1238X
CFMDB_514 commonName Q1238X
CFMDB_515 protEffect p.Gln1238Arg
CFMDB_515 commonName Q1238R
CFMDB_518 commonName 3849+ 10kbC- >T
CFMDB_516 commonName 3849G- >A
CFMDB_1695 protEffect p.Arg1239Ser
CFMDB_1695 commonName R1239S
CFMDB_1319 commonName 3849+ 40A- >G
CFMDB_1320 commonName 3849+ 45G- >A
CFMDB_519 commonName 3849+ 4A- >G
CFMDB_847 commonName 3849+ 5G- >A
CFMDB_517 commonName 3849+ 1G- >A
CFMDB_595 commonName 3850- 129T/C
CFMDB_741 commonName 3850- 79T/C
CFMDB_1616 commonName 3850- 41C/G
CFMDB_521 commonName 3850- 3T- >G
CFMDB_520 commonName 3850- 1G- >A
CFMDB_1054 protEffect p.Val1240Gly
CFMDB_1054 commonName V1240G
CFMDB_522 commonName 3860ins31
CFMDB_1481 protEffect p.Gly1244Arg
CFMDB_1481 commonName G1244R
CFMDB_523 protEffect p.Gly1244Glu
CFMDB_523 commonName G1244E
CFMDB_524 protEffect p.Gly1244Val
CFMDB_524 commonName G1244V
CFMDB_788 commonName 3867A/G
CFMDB_525 protEffect p.Thr1246Ile
CFMDB_525 commonName T1246I
CFMDB_1490 protEffect p.Gly1247Arg
CFMDB_1490 commonName G1247R(G- >C)
CFMDB_599 protEffect p.Gly1247Arg
CFMDB_599 commonName G1247R(G- >A)
CFMDB_808 protEffect p.Lys1250ArgfsX9
CFMDB_808 commonName 3876delA
CFMDB_526 protEffect p.Gly1249Arg
CFMDB_526 commonName G1249R
CFMDB_527 protEffect p.Gly1249Glu
CFMDB_527 commonName G1249E
CFMDB_1040 protEffect p.Lys1250ArgfsX9
CFMDB_1040 commonName 3878delG
CFMDB_528 protEffect p.Ser1251Asn
CFMDB_528 commonName S1251N
CFMDB_609 protEffect p.Thr1252Pro
CFMDB_609 commonName T1252P
CFMDB_1615 commonName 3891 G/A
CFMDB_1867 protEffect p.Leu1253Phe
CFMDB_1867 commonName L1253F
CFMDB_529 protEffect p.Leu1254X
CFMDB_529 commonName L1254X
CFMDB_1751 protEffect p.Leu1254Phe
CFMDB_530 protEffect p.Ser1255Pro
CFMDB_530 commonName S1255P
CFMDB_698 protEffect p.Ser1255Leu
CFMDB_698 commonName S1255L
CFMDB_531 protEffect p.Ser1255X
CFMDB_531 commonName S1255X
CFMDB_532 protEffect p.Leu1258PhefsX7
CFMDB_532 commonName 3898insC
CFMDB_1842 protEffect p.Ala1256Val
CFMDB_1842 commonName A1256V
CFMDB_899 protEffect p.Phe1257Leu
CFMDB_899 commonName F1257L
CFMDB_533 protEffect p.Leu1258PhefsX7
CFMDB_533 commonName 3905insT
CFMDB_534 protEffect p.Arg1259GlufsX6
CFMDB_534 commonName 3906insG
CFMDB_535 protEffect p.Leu1261del
CFMDB_535 commonName [delta]L1260
CFMDB_1327 protEffect p.Leu1260Arg
CFMDB_1327 commonName L1260R
CFMDB_1582 protEffect p.Thr1263Ala
CFMDB_1582 commonName T1263A
CFMDB_1404 protEffect p.Thr1263Ile
CFMDB_1404 commonName T1263I
CFMDB_606 protEffect p.Glu1264SerfsX11
CFMDB_606 commonName 3922del10- >C
CFMDB_1773 protEffect p.Ile1267Asn
CFMDB_1623 protEffect p.Gln1268Arg
CFMDB_1623 commonName Q1268R
CFMDB_536 protEffect p.Ile1269Asn
CFMDB_536 commonName I1269N
CFMDB_789 commonName 3939C/T
CFMDB_537 protEffect p.Asp1270Asn
CFMDB_537 commonName D1270N
CFMDB_1475 protEffect p.Asp1270Tyr
CFMDB_1475 commonName D1270Y
CFMDB_839 protEffect p.Ser1273LeufsX28
CFMDB_839 commonName 3944delGT
CFMDB_1992 protEffect p.Ser1273LeufsX28
CFMDB_989 protEffect p.Trp1274X
CFMDB_989 commonName W1274X
CFMDB_1883 protEffect p.Asp1275Asp
CFMDB_1332 protEffect p.Ile1277X
CFMDB_1332 commonName 3960- 3961delA
CFMDB_1770 protEffect p.Leu1279AlafsX22
CFMDB_1734 protEffect p.Leu1279Leu
CFMDB_680 protEffect p.Gln1281X
CFMDB_680 commonName Q1281X
CFMDB_597 protEffect p.Trp1282Gly
CFMDB_597 commonName W1282G
CFMDB_538 protEffect p.Trp1282Arg
CFMDB_538 commonName W1282R
CFMDB_708 protEffect p.Trp1282Cys
CFMDB_708 commonName W1282C
CFMDB_539 protEffect p.Trp1282X
CFMDB_539 commonName W1282X
CFMDB_1744 protEffect p.Arg1283Gly
CFMDB_541 protEffect p.Arg1283Met
CFMDB_541 commonName R1283M
CFMDB_540 protEffect p.Arg1283Lys
CFMDB_540 commonName R1283K
CFMDB_1834 commonName 3849+ 12192G>A
CFMDB_1793 protEffect p.Ala1285Val
CFMDB_1727 protEffect p.Phe1286LeufsX3
CFMDB_1843 protEffect p.Ala1285Val
CFMDB_1843 commonName A1285V
CFMDB_542 protEffect p.Phe1286Ser
CFMDB_542 commonName F1286S
CFMDB_1584 protEffect p.Pro1290Thr
CFMDB_1584 commonName P1290T
CFMDB_1513 protEffect p.Pro1290Ser
CFMDB_1513 commonName P1290S
CFMDB_790 commonName P1290P (4002A/G)
CFMDB_1098 protEffect p.Gln1291X
CFMDB_1098 commonName Q1291X
CFMDB_543 protEffect p.Gln1291Arg
CFMDB_543 commonName Q1291R
CFMDB_756 commonName 4005+ 2T- >C
CFMDB_1321 commonName 4005+ 29G- >C
CFMDB_544 protEffect p.Gln1291His
CFMDB_544 commonName Q1291H
CFMDB_545 commonName 4005+ 1G- >A
CFMDB_1659 commonName 4005+ 23delA
CFMDB_1322 commonName 4005+ 33A- >G
CFMDB_946 commonName 4005+ 117T/G
CFMDB_947 commonName 4005+ 121delTT
CFMDB_1835 commonName 4005+ 3G>T
CFMDB_1557 commonName 4006- 50 A/C
CFMDB_1558 commonName 4006- 26 T/C
CFMDB_644 commonName 4006- 14C- >G
CFMDB_1628 commonName 4006- 11 t- >G
CFMDB_681 commonName 4006- 4A- >G
CFMDB_547 commonName 4006- 19del3
CFMDB_949 commonName 4006- 200G/A
CFMDB_614 commonName 4006- 103delT
CFMDB_546 commonName 4006- 61del14
CFMDB_727 commonName 4006- 8T- >A
CFMDB_1389 commonName 4006- 46delTATTT
CFMDB_1051 protEffect p.Val1293TyrfsX35
CFMDB_1051 commonName 4006delA
CFMDB_744 protEffect p.Val1293Ile
CFMDB_744 commonName V1293I
CFMDB_548 protEffect p.Ile1295PhefsX32
CFMDB_548 commonName 4010del4
CFMDB_549 protEffect p.Ile1295PhefsX33
CFMDB_549 commonName 4015delA
CFMDB_550 protEffect p.Ser1297PhefsX5
CFMDB_550 commonName 4016insT
CFMDB_1417 protEffect p.Gly1298TrpfsX4
CFMDB_1417 commonName 4022insT
CFMDB_1854 protEffect p.Gly1298Ala
CFMDB_1854 commonName G1298A
CFMDB_1957 protEffect p.Gly1298Val
CFMDB_682 protEffect p.Thr1299Ile
CFMDB_682 commonName T1299I
CFMDB_791 commonName 4029A/G
CFMDB_645 protEffect p.Phe1300Leu
CFMDB_645 commonName F1300L
CFMDB_1427 protEffect p.Lys1302Arg
CFMDB_1427 commonName K1302R
CFMDB_551 protEffect p.Asn1303His
CFMDB_551 commonName N1303H
CFMDB_553 protEffect p.Asn1303Ile
CFMDB_553 commonName N1303I
CFMDB_552 protEffect p.Asn1303ThrfsX25
CFMDB_552 commonName 4040delA
CFMDB_1762 protEffect p.Asn1303LysfsX6
CFMDB_554 protEffect p.Asn1303Lys
CFMDB_554 commonName N1303K
CFMDB_1599 protEffect p.Leu1304_Asp1305delinsVal1304
CFMDB_1599 commonName 4041_4046del6insTGT
CFMDB_1753 protEffect p.Leu1304Met
CFMDB_738 protEffect p.Asp1305Glu
CFMDB_738 commonName D1305E
CFMDB_555 protEffect p.Tyr1307ProfsX22
CFMDB_555 commonName 4048insCC
CFMDB_792 commonName P1306P (4050C/T)
CFMDB_1279 protEffect p.Tyr1307Cys
CFMDB_1279 commonName Y1307C
CFMDB_992 protEffect p.Tyr1307X
CFMDB_992 commonName Y1307X
CFMDB_719 protEffect p.Glu1308X
CFMDB_719 commonName E1308X
CFMDB_1928 protEffect p.Gln1309Glu
CFMDB_1938 protEffect p.Gln1309X
CFMDB_1600 protEffect p.Gln1309His
CFMDB_1600 commonName Q1309H
CFMDB_556 protEffect p.Trp1310X
CFMDB_556 commonName W1310X
CFMDB_1323 protEffect p.Ser1311Gly
CFMDB_1323 commonName S1311R
CFMDB_1759 protEffect p.Ser1311LysfsX12
CFMDB_1901 protEffect p.Ser1311Asn
CFMDB_1654 protEffect p.Asp1312Gly
CFMDB_1654 commonName D1312G
CFMDB_683 protEffect p.Gln1313Lys
CFMDB_683 commonName Q1313K
CFMDB_557 protEffect p.Gln1313X
CFMDB_557 commonName Q1313X
CFMDB_558 protEffect p.Trp1316X
CFMDB_558 commonName W1316X
CFMDB_903 protEffect p.Val1318Ala
CFMDB_903 commonName V1318A
CFMDB_1997 protEffect p.Val1318Gly
CFMDB_793 commonName 4086T/C
CFMDB_1700 protEffect p.Ala1319Glu
CFMDB_1700 commonName A1319E
CFMDB_1836 protEffect p.Asp1320ArgfsX3
CFMDB_1836 commonName 4089ins4
CFMDB_559 protEffect p.Glu1321Gln
CFMDB_559 commonName E1321Q
CFMDB_1415 commonName CFTRdele22, 23
CFMDB_1601 commonName 4095+ 1G>C
CFMDB_612 commonName 4095+ 42T/C
CFMDB_1655 commonName 4095+ 1G- >T
CFMDB_1370 commonName 4095+ 2T- >A
CFMDB_950 commonName 4096- 283T/C
CFMDB_1837 commonName 4096- 6C>T
CFMDB_709 commonName 4096- 3C- >G
CFMDB_1260 commonName 4096- 1G- >A
CFMDB_684 commonName 4096- 28G- >A
CFMDB_1377 protEffect p.Leu1324Pro
CFMDB_1377 commonName L1324P
CFMDB_633 protEffect p.Ser1326LeufsX2
CFMDB_633 commonName 4108delT
CFMDB_560 protEffect p.Ile1328LeufsX?
CFMDB_560 commonName 4114ATA- >TT
CFMDB_1730 protEffect p.Glu1329Gln
CFMDB_1982 protEffect p.Glu1329Val
CFMDB_1855 protEffect p.Gly1333Trp
CFMDB_1855 commonName G1333W
CFMDB_1580 protEffect p.Leu1335Phe
CFMDB_1580 commonName L1335F
CFMDB_807 protEffect p.Leu1335Pro
CFMDB_807 commonName L1335P
CFMDB_819 protEffect p.Phe1337Val
CFMDB_819 commonName F1337V
CFMDB_1201 protEffect p.Leu1339Phe
CFMDB_1201 commonName L1339F
CFMDB_1784 protEffect p.Gly1343Ser
CFMDB_1802 protEffect p.Cys1344GlyfsX16
CFMDB_1484 protEffect p.Leu1346MetfsX6
CFMDB_1484 commonName 4168delCTAAGCC
CFMDB_1713 protEffect p.Ser1347ProfsX13
CFMDB_1602 protEffect p.Ser1347LysfsX12
CFMDB_1602 commonName 4171insA
CFMDB_561 protEffect p.Ser1347ThrfsX11
CFMDB_561 commonName 4172delGC
CFMDB_562 protEffect p.His1348MetfsX6
CFMDB_562 commonName 4173delC
CFMDB_998 protEffect p.Gly1349Ser
CFMDB_998 commonName G1349S
CFMDB_563 protEffect p.Gly1349Asp
CFMDB_563 commonName G1349D
CFMDB_634 protEffect p.Lys1351Glu
CFMDB_634 commonName K1351E
CFMDB_1586 protEffect p.Gln1352Glu
CFMDB_1586 commonName Q1352E
CFMDB_564 protEffect p.Gln1352His
CFMDB_564 commonName Q1352H(G- >C)
CFMDB_1446 protEffect p.Gln1352His
CFMDB_1446 commonName Q1352H(G- >T)
CFMDB_1202 protEffect p.Ala1357LeufsX?
CFMDB_1202 commonName 4203TAG- >AA
CFMDB_1159 protEffect p.Arg1358Ser
CFMDB_1159 commonName R1358S
CFMDB_1472 protEffect p.Val1360delfsX?
CFMDB_1472 commonName 4209TGTT- >AA
CFMDB_565 protEffect p.Lys1363X
CFMDB_565 commonName 4218insT
CFMDB_566 protEffect p.Ala1364Val
CFMDB_566 commonName A1364V
CFMDB_1160 protEffect p.Ile1366Thr
CFMDB_1160 commonName I1366T
CFMDB_1976 protEffect p.Ile1366Asn
CFMDB_1764 protEffect p.Ile1384X
CFMDB_567 protEffect p.Glu1371X
CFMDB_567 commonName E1371X
CFMDB_1776 protEffect p.Glu1371dup
CFMDB_1353 protEffect p.Pro1372Thr
CFMDB_1353 commonName P1372T
CFMDB_1507 protEffect p.Pro1372Leu
CFMDB_1507 commonName P1372 L
CFMDB_1768 protEffect p.His1375Asn
CFMDB_1491 protEffect p.His1375Pro
CFMDB_1491 commonName H1375P
CFMDB_1932 protEffect p.Leu1376SerfsX8
CFMDB_568 protEffect p.Asp1377His
CFMDB_568 commonName D1377H
CFMDB_621 commonName 4269- 139G/A
CFMDB_1037 commonName 4269- 108A- >G
CFMDB_569 protEffect p.Thr1380AsnfsX4
CFMDB_569 commonName 4271delC
CFMDB_1452 protEffect p.Tyr1381ThrfsX3
CFMDB_1452 commonName 4272delA
CFMDB_1573 protEffect p.Tyr1381His
CFMDB_1573 commonName Y1381H
CFMDB_1275 protEffect p.Tyr1381X
CFMDB_1275 commonName Y1381X
CFMDB_959 protEffect p.Gln1382X
CFMDB_959 commonName Q1382X
CFMDB_570 protEffect p.Ile1383AsnfsX3
CFMDB_570 commonName 4279insA
CFMDB_1622 protEffect p.Leu1388Val
CFMDB_1622 commonName L1388V
CFMDB_685 protEffect p.Leu1388Gln
CFMDB_685 commonName L1388Q
CFMDB_1652 protEffect p.Gln1390X
CFMDB_1652 commonName Q1390X
CFMDB_1213 protEffect p.Ala1391HisfsX7
CFMDB_1213 commonName 4301(4302?)delA
CFMDB_1884 protEffect p.Asp1394Asp
CFMDB_571 protEffect p.Val1397Glu
CFMDB_571 commonName V1397E
CFMDB_1479 protEffect p.Ile1398Ser
CFMDB_1479 commonName I1398S
CFMDB_573 protEffect p.Cys1400X
CFMDB_573 commonName 4326delTC
CFMDB_1665 protEffect p.Cys1400X
CFMDB_1665 commonName 4326delTC
CFMDB_1658 commonName 4329C/G
CFMDB_1741 protEffect p.Leu1399Leu
CFMDB_1111 protEffect p.Cys1400X
CFMDB_1111 commonName 4332delTG
CFMDB_1732 protEffect p.Glu1401GlyfsX61
CFMDB_1514 protEffect p.Glu1401Lys
CFMDB_1514 commonName E1401K
CFMDB_854 protEffect p.Glu1401X
CFMDB_854 commonName E1401X
CFMDB_1250 protEffect p.Glu1401Ala
CFMDB_1250 commonName E1401A
CFMDB_1603 protEffect p.Glu1401Gly
CFMDB_1603 commonName E1401G
CFMDB_1378 protEffect p.Met1407Thr
CFMDB_1378 commonName M1407T
CFMDB_794 commonName 4356G/A
CFMDB_1364 protEffect p.Glu1409Lys
CFMDB_1364 commonName E1409K
CFMDB_572 protEffect p.Glu1409Val
CFMDB_572 commonName E1409V
CFMDB_574 protEffect p.Gln1411X
CFMDB_574 commonName Q1411X
CFMDB_1959 protEffect p.Gln1411Pro
CFMDB_575 protEffect p.Gln1412X
CFMDB_575 commonName Q1412X
CFMDB_1547 protEffect p.Leu1414Ser
CFMDB_1547 commonName L1414S
CFMDB_1838 commonName 4374+ 2T>C
CFMDB_917 commonName 4374+ 10T- >C
CFMDB_951 commonName 4374+ 13A/G
CFMDB_952 commonName 4374+ 14A/G
CFMDB_576 commonName 4374+ 1G- >A
CFMDB_577 commonName 4374+ 1G- >T
CFMDB_1604 protEffect p.Leu1414Phe
CFMDB_1604 commonName 4374_4374+ 1GG>TT
CFMDB_953 commonName 4375- 15C/T
CFMDB_1251 commonName 4375- 2A- >C
CFMDB_1038 commonName 4375- 1G- >C
CFMDB_1743 commonName 4375- 7delT
CFMDB_578 protEffect p.Glu1418ArgfsX14
CFMDB_578 commonName 4382delA
CFMDB_1428 protEffect p.Glu1418X
CFMDB_1428 commonName E1418X
CFMDB_814 protEffect p.Arg1422Trp
CFMDB_814 commonName R1422W
CFMDB_795 commonName 4404C/T
CFMDB_1771 protEffect p.Tyr1424X
CFMDB_1161 protEffect p.Ser1426Pro
CFMDB_1161 commonName S1426P
CFMDB_1276 protEffect p.Ser1426Phe
CFMDB_1276 commonName S1426F
CFMDB_1859 protEffect p.Ile427Thr
CFMDB_1859 commonName I1427T
CFMDB_700 protEffect p.Asn1432Lys
CFMDB_700 commonName N1432K
CFMDB_846 protEffect p.Ser1435GlyfsX14
CFMDB_846 commonName 4428insGA
CFMDB_1406 protEffect p.Arg1438Trp
CFMDB_1406 commonName R1438W
CFMDB_1962 protEffect p.Ala1440Ala
CFMDB_1556 commonName 4464 C/T
CFMDB_629 protEffect p.Asp1445Asn
CFMDB_629 commonName D1445N
CFMDB_1014 protEffect p.Arg1453Trp
CFMDB_1014 commonName R1453W
CFMDB_579 protEffect p.Ser1455X
CFMDB_579 commonName S1455X
CFMDB_1978 protEffect p.Ser1456Asn
CFMDB_1816 protEffect p.Lys1459Lys
CFMDB_1543 protEffect p.Gln1463His
CFMDB_1543 commonName Q1463H
CFMDB_796 commonName 4521G/A
CFMDB_1825 protEffect p.Lys1468Asn
CFMDB_1341 protEffect p.Glu1473X
CFMDB_1341 commonName E1473X
CFMDB_1550 commonName 4557 G/A
CFMDB_1034 protEffect p.Gln1476X
CFMDB_1034 commonName Q1476X
CFMDB_1162 commonName 4563T/C
CFMDB_1542 protEffect p.Leu1480Pro
CFMDB_1542 commonName L1480P
CFMDB_1324 commonName 4575+ 2G- >A
CFMDB_1039 commonName 4655T- >G
CFMDB_1369 commonName CFTRdele14b- 17b
CFMDB_580 commonName CFTR50kbdel
CFMDB_1664 commonName CFTRdup1- 3
CFMDB_1380 commonName CFTRdele1
CFMDB_1411 commonName CFTRdele1Ins299bp
CFMDB_1430 commonName CFTRdele1 or 136del119ins299
CFMDB_1429 commonName CFTRdele1- 24
CFMDB_687 protEffect p.Ser18ArgfsX16
CFMDB_687 commonName CFTRdele2, 3
CFMDB_686 commonName CFTRdele2
CFMDB_1105 commonName CFTRdele2- 10
CFMDB_1381 commonName CFTRdele3- 10, 14b- 16
CFMDB_1431 commonName CFTRdele3- 10, 14b- 16
CFMDB_1412 commonName CFTRdele4Ins41bp
CFMDB_1413 commonName CFTRdele4- 6aIns6bp
CFMDB_1407 commonName CFTRdup4- 8
CFMDB_581 commonName CFTR40kbdel
CFMDB_1607 commonName CFTRdup10_18
CFMDB_1606 commonName CFTRdup11_13
CFMDB_1414 commonName CFTRdele11- 16Ins35bp
CFMDB_689 commonName CFTRdele14a
CFMDB_642 commonName CFTRdele14b- 18
CFMDB_1106 commonName CFTRdele16- 17b
CFMDB_1085 commonName CFTRdele17b18
CFMDB_1205 commonName CFTRdele19
CFMDB_1086 commonName CFTRdele21
CFMDB_1522 commonName 120del23
CFMDB_1356 protEffect p.Leu454_Val456del
CFMDB_1356 commonName 1491- 1500del
CFMDB_1456 commonName Del exon 17a- 17b- 18
CFMDB_1434 commonName 3413del355_insTGTTAA
CFMDB_1454 commonName Del Pr- Ex1
CFMDB_1457 commonName Del exon 17a- 17b
CFMDB_1433 commonName 3121- 977_3499+ 248del2515
CFMDB_1498 protEffect p.Ser429_Val440delfsX1
CFMDB_1498 commonName 1429del7bp
CFMDB_1518 commonName delePr- 3
CFMDB_1453 commonName Del Pr- Ex1- Ex2
CFMDB_1480 commonName Dup ex 6b- 10 (gIVS6a+ 415_IVS10+ 2987Dup26817bp)
CFMDB_1459 commonName Del exon 4- 6a
CFMDB_1460 commonName Del exon 2- 3
CFMDB_1605 commonName delEx2- 6b
CFMDB_1455 commonName Del exon 22- 24
CFMDB_1458 commonName Del exon 22- 23
CFMDB_1533 commonName delEx2- 9
CFMDB_1432 commonName 2752- 674_3499+ 198del9855
CFMDB_1204 commonName 4375- 36delT
CBS_c.833T>C commonName 833 T>C
CBS_c.833T>C protEffect I278T
CBS_c.572C>T commonName 572 C>T
CBS_c.572C>T protEffect T191M
CBS_c.919G>A commonName 919 G>A
CBS_c.919G>A protEffect G307S
CBS_c.1006C>T commonName 1006 C>T
CBS_c.1006C>T protEffect R336C
CBS_g.22159A>C commonName IVS11-2 A>C
CBS_g.22159A>C protEffect del ex 12
CBS_c.969G>A commonName 969 G>A
CBS_c.969G>A protEffect W323X
CBS_c.1330G>A commonName 1330 G>A
CBS_c.1330G>A protEffect D444N
CBS_c.374G>A commonName 374 G>A
CBS_c.374G>A protEffect R125Q
CBS_c.430G>A commonName 430 G>A
CBS_c.430G>A protEffect E144K
CBS_c.1058C>T commonName 1058 C>T
CBS_c.1058C>T protEffect T353M
CBS_c.797G>A commonName 797 G>A
CBS_c.797G>A protEffect R266K
CBS_c.1566delG commonName 1566delG
CBS_c.1566delG protEffect fs, stop at aa 540
CBS_c.785C>T commonName 785 C>T
CBS_c.785C>T protEffect T262M
CBS_c.341C>T commonName 341 C>T
CBS_c.341C>T protEffect A114V
CBS_c.494G>A commonName 494 G>A
CBS_c.494G>A protEffect C165Y
CBS_c.362G>A commonName 362 G>A
CBS_c.362G>A protEffect R121H
CBS_c.904G>A commonName 904 G>A
CBS_c.904G>A protEffect E302K
CBS_c.253G>A commonName 253 G>A
CBS_c.253G>A protEffect G85R
CBS_c.1039G>A commonName 1039 G>A
CBS_c.1039G>A protEffect G347S
CBS_c.302T>C commonName 302 T>C
CBS_c.302T>C protEffect L101P
CBS_c.676G>A commonName 676 G>A
CBS_c.676G>A protEffect A226T
CBS_c.1321A>T commonName 1321 A>T
CBS_c.1321A>T protEffect K441X
CBS_c.457G>A commonName 457 G>A
CBS_c.457G>A protEffect G153R
CBS_c.451G>A commonName 451 G>A
CBS_c.451G>A protEffect G151R
CBS_c.770C>T commonName 770 C>T
CBS_c.770C>T protEffect T257M
CBS_c.862G>A commonName 862 G>A
CBS_c.862G>A protEffect A288T
CBS_c.700G>A commonName 700 G>A
CBS_c.700G>A protEffect D234N
CBS_c.959T>C commonName 959 T>C
CBS_c.959T>C protEffect V320A
CBS_c.373C>T commonName 373 C>T
CBS_c.373C>T protEffect R125W
CBS_c.19_20insC commonName 19insC
CBS_c.19_20insC protEffect fs, stop at aa 36
CBS_c.1007G>A commonName 1007 G>A
CBS_c.1007G>A protEffect R336H
CBS_g.9152G>A commonName IVS1+1G>A
CBS_g.9152G>A protEffect del ex1 or 153del57
CBS_c.346G>A commonName 346 G>A
CBS_c.346G>A protEffect G116R
CBS_c.146C>T commonName 146 C>T
CBS_c.146C>T protEffect P49L
CBS_c.361C>T commonName 361 C>T
CBS_c.361C>T protEffect R121C
CBS_c.1105C>T commonName 1105 C>T
CBS_c.1105C>T protEffect R369C
CBS_c.1111G>A commonName 1111 G>A
CBS_c.1111G>A protEffect V371M
CBS_c.684C>A commonName 684 C>A
CBS_c.684C>A protEffect N228K
CBS_c.194A>G commonName 194 A>G
CBS_c.194A>G protEffect H65R
CBS_c.1013T>C commonName 1013 T>C
CBS_c.1013T>C protEffect L338P
CBS_c.533_550del commonName 533 del 18
CBS_c.533_550del protEffect del aa 179-184
CBS_c.1046G>A commonName 1046 G>A
CBS_c.1046G>A protEffect S349N
CBS_c.456C>G commonName 456 C>G
CBS_c.456C>G protEffect I152M
CBS_c.1316G>A commonName 1316 G>A
CBS_c.1316G>A protEffect R439Q
CBS_c.325T>C commonName 325 T>C
CBS_c.325T>C protEffect C109R
CBS_c.824G>A commonName 824 G>A
CBS_c.824G>A protEffect C275Y
CBS_c.442G>A commonName 442 G>A
CBS_c.442G>A protEffect G148R
CBS_c.463G>A commonName 463 G>A
CBS_c.463G>A protEffect A155T
CBS_c.694C>G commonName 694 C>G
CBS_c.694C>G protEffect H232D
CBS_c.1136G>A commonName 1136 G>A
CBS_c.1136G>A protEffect R379Q
CBS_c.683A>G commonName 683 A>G
CBS_c.683A>G protEffect N228S
CBS_c.689delT commonName 689delT
CBS_c.689delT protEffect L230RfsX39
CBS_g.18827G>T commonName IVS9+1 G>T
CBS_g.18827G>T protEffect del ex 9, T318fsX330
CBS_c.1081G>A commonName 1081G>A
CBS_c.1081G>A protEffect A361T
CBS_c.1106G>A commonName 1106 G>A
CBS_c.1106G>A protEffect R369H
CBS_c.1060G>A commonName 1060 G>A
CBS_c.1060G>A protEffect V354M
CBS_c.862_866del5 commonName 862_866del5
CBS_c.862_866del5 protEffect E289GfsX39
CBS_c.1150A>G commonName 1150 A>G
CBS_c.1150A>G protEffect K384E
CBS_c.1152G>C commonName 1152 G>C
CBS_c.1152G>C protEffect K384N
CBS_c.715G>A commonName 715 G>A
CBS_c.715G>A protEffect E239K
CBS_c.700_702delGAC commonName 700_702delGAC
CBS_c.700_702delGAC protEffect 234delD
CBS_c.691G>C commonName 691 G>C
CBS_c.691G>C protEffect A231L
CBS_g.15858_15865del commonName IVS5-14_-7del8
CBS_g.15858_15865del protEffect Y223GfsX23
CBS_g.22875G>C commonName IVS12-1 G>C
CBS_g.22875G>C protEffect del exon 13
CBS_c.262C>T commonName 262 C>T
CBS_c.262C>T protEffect P88S
CBS_c.233C>G commonName 233 C>G
CBS_c.233C>G protEffect P78R
CBS_c.362G>T commonName 362 G>T
CBS_c.362G>T protEffect R121L
CBS_g.12518G>C commonName IVS1-1G>C
CBS_g.12518G>C protEffect 210del26, fs stop at aa 9
CBS_c.1591_1594del commonName 1591del4
CBS_c.1591_1594del protEffect 1591delTTCG, fs
CBS_c.502G>A commonName 502 G>A
CBS_c.502G>A protEffect V168M
CBS_c.518delTGA commonName 518delTGA
CBS_c.518delTGA protEffect M173del
CBS_c.526G>A commonName 526 G>A
CBS_c.526G>A protEffect E176K
CBS_g.15521G>A commonName IVS4+1 G>A
CBS_g.15521G>A protEffect n.d.
CBS_c.1226G>A commonName 1226 G>A
CBS_c.1226G>A protEffect W409X
CBS_c.28delG commonName 28delG
CBS_c.28delG protEffect fs, stop at aa 81
CBS_c.1616T>C commonName 1616 T>C
CBS_c.1616T>C protEffect L539S
CBS_c.1367T>C commonName 1367 T>C
CBS_c.1367T>C protEffect L456P
CBS_c.1627_1645del commonName 1627del19
CBS_c.1627_1645del protEffect fs, stop at aa 568
CBS_g.18186G>A commonName IVS8+1G>A
CBS_g.18186G>A protEffect del ex 8
CBS_c.429C>G commonName 429 C>G
CBS_c.429C>G protEffect I143M
CBS_c.1601T>A commonName 1601 T>A
CBS_c.1601T>A protEffect V534D
CBS_c.1590_1593del commonName 1590del4
CBS_c.1590_1593del protEffect 1590delGTTC, fs
CBS_c.1063G>C commonName 1063G>C
CBS_c.1063G>C protEffect A355P
CBS_c.1576C>A commonName 1576 C>A
CBS_c.1576C>A protEffect Q526K
CBS_c.1055G>A commonName 1055 G>A
CBS_c.1055G>A protEffect S352N
CBS_c.1673_1677del commonName 1673del5
CBS_c.1673_1677del protEffect n.d.
CBS_c.1471C>T commonName 1471 C>T
CBS_c.1471C>T protEffect R491C
CBS_c.1082C>T commonName 1082 T>C
CBS_c.1082C>T protEffect A361V
CBS_c.1221delC commonName 1221delC
CBS_c.1221delC protEffect W408fsX423
CBS_g.21942_22040del commonName IVS11+39del99
CBS_g.21942_22040del protEffect n.d.
CBS_g.22072_22120del commonName IVS11-89del49
CBS_g.22072_22120del protEffect n.d.
CBS_c.1170G>A commonName 1170 G>A
CBS_c.1170G>A protEffect W390X
CBS_c.1259C>G commonName 1259C>G
CBS_c.1259C>G protEffect S420X
CBS_c.1265C>T commonName 1265 C>T
CBS_c.1265C>T protEffect P422L
CBS_c.1146_1223del commonName 1146 del 78
CBS_c.1146_1223del protEffect del ex 11
CBS_g.20700C>T commonName IVS10+7 C>T
CBS_g.20700C>T protEffect n.d.
CBS_c.1286_1288delTCA commonName 1286_1288delTCA
CBS_c.1286_1288delTCA protEffect I429del,fs
CBS_g.20694G>A commonName IVS11+1G>A
CBS_g.20694G>A protEffect del aa382-407
CBS_c.1301C>A commonName 1301 C>A
CBS_c.1301C>A protEffect T434N
CBS_c.1304T>C commonName 1304T>C
CBS_c.1304T>C protEffect I435T
CBS_c.1336G>T commonName 1336 G>T
CBS_c.1336G>T protEffect A446S
CBS_c.1109G>A commonName 1109 G>A
CBS_c.1109G>A protEffect C370Y
CBS_c.1126G>A commonName 1126 G>A
CBS_c.1126G>A protEffect D376N
CBS_c.1397C>T commonName 1397C>T
CBS_c.1397C>T protEffect S466L
CBS_c.1173G>T commonName 1173 G>T
CBS_c.1173G>T protEffect M391I
CBS_c.103G>A;129G>A commonName 103G>A; 129G>A
CBS_c.103G>A;129G>A protEffect D35N; W43X
CBS_c.415G>A commonName 415 G>A
CBS_c.415G>A protEffect G139R
CBS_c.434C>T commonName 434 C>T
CBS_c.434C>T protEffect P145L
CBS_c.443G>A commonName 443 G>A
CBS_c.443G>A protEffect G148E
CBS_c.452_531del commonName 452del 80
CBS_c.452_531del protEffect del ex 4
CBS_c.461T>A commonName 461 T>A
CBS_c.461T>A protEffect L154Q
CBS_c.464C>T commonName 464C>T
CBS_c.464C>T protEffect A155V
CBS_c.469G>C commonName 469 G>C
CBS_c.469G>C protEffect A157P
CBS_c.493_514del commonName 493del22
CBS_c.493_514del protEffect fs,del aa 165-172
CBS_c.503T>C commonName 503 T>C
CBS_c.503T>C protEffect V168A
CBS_c.393G>C commonName 393 G>C
CBS_c.393G>C protEffect E131D
CBS_c.384G>C commonName 384 G>C
CBS_c.384G>C protEffect E128D
CBS_c.153_209del commonName del bp 153-209
CBS_c.153_209del protEffect del aa 52-70
CBS_c.172C>T commonName 172 C>T
CBS_c.172C>T protEffect R58W
CBS_c.194A>C commonName 194 A>C
CBS_c.194A>C protEffect H65R
CBS_g.9152_9153ins commonName IVS1+1insC
CBS_g.9152_9153ins protEffect del ex 1 (?)
CBS_c.260C>A commonName 260 C>A
CBS_c.260C>A protEffect T87N
CBS_c.306G>C commonName 306 G>C
CBS_c.306G>C protEffect K102N
CBS_c.313C>G commonName 313 C>G
CBS_c.313C>G protEffect 313del4, fs
CBS_c.374G>C commonName 374 G>C
CBS_c.374G>C protEffect R125P
CBS_c.376A>G commonName 376 A>G
CBS_c.376A>G protEffect M126V
CBS_g.16373_17168del commonName IVS4-38del796
CBS_g.16373_17168del protEffect V178GfsX23
CBS_g.15585_15613del commonName IVS4-31del 29
CBS_g.15585_15613del protEffect del ex 5
CBS_c.796A>G commonName 796A>G
CBS_c.796A>G protEffect R266G
CBS_c.808_810del commonName 808del3
CBS_c.808_810del protEffect del E270
CBS_g.17239G>A commonName IVS7+1 G>A
CBS_g.17239G>A protEffect 828ins104, 737del92
CBS_c.833T>G commonName 833 T>G
CBS_c.833T>G protEffect I278S
CBS_c.869C>T commonName 869 C>T
CBS_c.869C>T protEffect P290L
CBS_c.913G>A commonName 913 G>A
CBS_c.913G>A protEffect G305R
CBS_c.593A>T commonName 593 A>T
CBS_c.593A>T protEffect D198V
CBS_c.955_1039del commonName 955del85
CBS_c.955_1039del protEffect del ex 9
CBS_c.962A>T commonName 962 A>T
CBS_c.962A>T protEffect D321V
CBS_c.992C>A commonName 992 C>A
CBS_c.992C>A protEffect A331E
CBS_c.785C>G commonName 785 C>G
CBS_c.785C>G protEffect T262R
CBS_c.775G>A commonName 775 G>A
CBS_c.775G>A protEffect G259S
CBS_c.539T>C commonName 539 T>C
CBS_c.539T>C protEffect V180A
CBS_c.599C>T commonName 599 C>T
CBS_c.599C>T protEffect P200L
CBS_c.650C>T commonName 650 C>T
CBS_c.650C>T protEffect S217F
CBS_c.671G>A commonName 671 G>A
CBS_c.671G>A protEffect R224H
CBS_c.684C>G commonName 684 C>G
CBS_c.684C>G protEffect N228K
CBS_c.727C>T commonName 727 C>T
CBS_c.727C>T protEffect Q243X
CBS_g.17146G>C commonName IVS6-1 G>C
CBS_g.17146G>C protEffect n.d.
CBS_c.739_768del commonName 739del 30
CBS_c.739_768del protEffect del aa 247-256
CBS_c.740_764del commonName 740del25
CBS_c.740_764del protEffect del aa 247-255
CBS_c.361C>A commonName 361 C>A
CBS_c.361C>A protEffect R121S
CBS_c.992C>T commonName 992 C>T
CBS_c.992C>T protEffect A331V
CASRdb_c.2788delC commonName Q930del/fsX938
CASRdb_c.2788delC protEffect Q930del/fsX938
CASRdb_c.2788delC phenoCommon ADH
CASRdb_c.1061A>C commonName E354A
CASRdb_c.1061A>C protEffect E354A
CASRdb_c.1061A>C phenoCommon IE
CASRdb_c.1256A>G commonName N419S
CASRdb_c.1256A>G protEffect N419S
CASRdb_c.1256A>G phenoCommon ADH
CASRdb_c.141A>C commonName K47N
CASRdb_c.141A>C protEffect K47N
CASRdb_c.141A>C phenoCommon ADH
CASRdb_c.1666G>A commonName E556K
CASRdb_c.1666G>A protEffect E556K
CASRdb_c.1666G>A phenoCommon ADH
CASRdb_c.1693T>G commonName C565G
CASRdb_c.1693T>G protEffect C565G
CASRdb_c.1693T>G phenoCommon ADH
CASRdb_c.1765T>C commonName F589L
CASRdb_c.1765T>C protEffect F589L
CASRdb_c.1765T>C phenoCommon ADH
CASRdb_c.1810G>A commonName E604K
CASRdb_c.1810G>A protEffect E604K
CASRdb_c.1810G>A phenoCommon ADH
CASRdb_c.1829A>G commonName E610G
CASRdb_c.1829A>G protEffect E610G
CASRdb_c.1829A>G phenoCommon ADH
CASRdb_c.1835T>C commonName F612S
CASRdb_c.1835T>C protEffect F612S
CASRdb_c.1835T>C phenoCommon ADH
CASRdb_c.2043G>T commonName Q681H
CASRdb_c.2043G>T protEffect Q681H
CASRdb_c.2043G>T phenoCommon ADH
CASRdb_c.2056A>G commonName I686V
CASRdb_c.2056A>G protEffect I686V
CASRdb_c.2056A>G phenoCommon IE
CASRdb_c.2180T>A commonName L727Q
CASRdb_c.2180T>A protEffect L727Q
CASRdb_c.2180T>A phenoCommon ADH
CASRdb_c.2299G>A commonName E767K
CASRdb_c.2299G>A protEffect E767K
CASRdb_c.2299G>A phenoCommon ADH
CASRdb_c.2318T>G commonName L773R
CASRdb_c.2318T>G protEffect L773R
CASRdb_c.2318T>G phenoCommon ADH
CASRdb_c.2362T>C commonName F788L
CASRdb_c.2362T>C protEffect F788L
CASRdb_c.2362T>C phenoCommon ADH
CASRdb_c.2363T>G commonName F788C
CASRdb_c.2363T>G protEffect F788C
CASRdb_c.2363T>G phenoCommon ADH
CASRdb_c.2395G>A commonName E799K
CASRdb_c.2395G>A protEffect E799K
CASRdb_c.2395G>A phenoCommon ADH
CASRdb_c.2405A>T commonName N802I
CASRdb_c.2405A>T protEffect N802I
CASRdb_c.2405A>T phenoCommon ADH
CASRdb_c.2417T>C commonName F806S
CASRdb_c.2417T>C protEffect F806S
CASRdb_c.2417T>C phenoCommon ADH
CASRdb_c.2431A>G commonName M811V
CASRdb_c.2431A>G protEffect M811V
CASRdb_c.2431A>G phenoCommon ADH
CASRdb_c.2459C>G commonName S820F
CASRdb_c.2459C>G protEffect S820F
CASRdb_c.2459C>G phenoCommon ADH
CASRdb_c.2461T>C commonName F821L
CASRdb_c.2461T>C protEffect F821L
CASRdb_c.2461T>C phenoCommon ADH
CASRdb_c.2470G>T commonName A824S
CASRdb_c.2470G>T protEffect A824S
CASRdb_c.2470G>T phenoCommon ADH
CASRdb_c.2483C>A commonName T828N
CASRdb_c.2483C>A protEffect T828N
CASRdb_c.2483C>A phenoCommon ADH
CASRdb_c.2488G>A commonName G830S
CASRdb_c.2488G>A protEffect G830S
CASRdb_c.2488G>A phenoCommon ADH
CASRdb_c.2494T>C commonName F832L
CASRdb_c.2494T>C protEffect F832L
CASRdb_c.2494T>C phenoCommon ADH
CASRdb_c.2495T>C commonName F832S
CASRdb_c.2495T>C protEffect F832S
CASRdb_c.2495T>C phenoCommon ADH
CASRdb_c.2503G>A commonName A835T
CASRdb_c.2503G>A protEffect A835T
CASRdb_c.2503G>A phenoCommon ADH
CASRdb_c.2506G>C commonName V836L
CASRdb_c.2506G>C protEffect V836L
CASRdb_c.2506G>C phenoCommon ADH
CASRdb_c.2528C>A commonName A843E
CASRdb_c.2528C>A protEffect A843E
CASRdb_c.2528C>A phenoCommon ADH
CASRdb_c.2530G>A commonName A844T
CASRdb_c.2530G>A protEffect A844T
CASRdb_c.2530G>A phenoCommon ADH
CASRdb_c.2534G>A commonName S845N
CASRdb_c.2534G>A protEffect S845N
CASRdb_c.2534G>A phenoCommon ADH
CASRdb_c.2682_3224del542 commonName S895_V1075del
CASRdb_c.2682_3224del542 protEffect S895_V1075del
CASRdb_c.2682_3224del542 phenoCommon ADH
CASRdb_c.2691_2692insG commonName K897ins/fsX979
CASRdb_c.2691_2692insG protEffect K897ins/fsX979
CASRdb_c.2691_2692insG phenoCommon ADH
CASRdb_c.2693G>A commonName R898Q
CASRdb_c.2693G>A protEffect R898Q
CASRdb_c.2693G>A phenoCommon IE
CASRdb_c.2824G>A commonName E942K
CASRdb_c.2824G>A protEffect E942K
CASRdb_c.2824G>A phenoCommon ADH
CASRdb_c.2963C>G commonName A988G
CASRdb_c.2963C>G protEffect A988G
CASRdb_c.2963C>G phenoCommon IE
CASRdb_c.2968A>G commonName R990G
CASRdb_c.2968A>G protEffect R990G
CASRdb_c.2980C>T commonName H994Y
CASRdb_c.2980C>T protEffect H994Y
CASRdb_c.2980C>T phenoCommon IH
CASRdb_c.346G>A commonName A116T
CASRdb_c.346G>A protEffect A116T
CASRdb_c.346G>A phenoCommon ADH
CASRdb_c.346G>C commonName A116P
CASRdb_c.346G>C protEffect A116P
CASRdb_c.346G>C phenoCommon ADH
CASRdb_c.354C>A commonName N118K
CASRdb_c.354C>A protEffect N118K
CASRdb_c.354C>A phenoCommon ADH
CASRdb_c.354C>G commonName N118K
CASRdb_c.354C>G protEffect N118K
CASRdb_c.354C>G phenoCommon ADH
CASRdb_c.372C>A commonName N124K
CASRdb_c.372C>A protEffect N124K
CASRdb_c.372C>A phenoCommon ADH
CASRdb_c.373C>T commonName L125F
CASRdb_c.373C>T protEffect L125F
CASRdb_c.373C>T phenoCommon ADH
CASRdb_c.374T>C commonName L125P
CASRdb_c.374T>C protEffect L125P
CASRdb_c.374T>C phenoCommon ADH
CASRdb_c.379G>A commonName E127K
CASRdb_c.379G>A protEffect E127K
CASRdb_c.379G>A phenoCommon ADH
CASRdb_c.380A>C commonName E127A
CASRdb_c.380A>C protEffect E127A
CASRdb_c.380A>C phenoCommon ADH
CASRdb_c.380A>G commonName E127G
CASRdb_c.380A>G protEffect E127G
CASRdb_c.380A>G phenoCommon ADH
CASRdb_c.382T>C commonName F128L
CASRdb_c.382T>C protEffect F128L
CASRdb_c.382T>C phenoCommon ADH
CASRdb_c.385T>A commonName C129S
CASRdb_c.385T>A protEffect C129S
CASRdb_c.385T>A phenoCommon ADH
CASRdb_c.385T>C commonName C129R
CASRdb_c.385T>C protEffect C129R
CASRdb_c.385T>C phenoCommon ADH
CASRdb_c.386G>A commonName C129Y
CASRdb_c.386G>A protEffect C129Y
CASRdb_c.386G>A phenoCommon ADH
CASRdb_c.386G>T commonName C129F
CASRdb_c.386G>T protEffect C129F
CASRdb_c.386G>T phenoCommon ADH
CASRdb_c.392G>A commonName C131Y
CASRdb_c.392G>A protEffect C131Y
CASRdb_c.392G>A phenoCommon ADH
CASRdb_c.392G>T commonName C131F
CASRdb_c.392G>T protEffect C131F
CASRdb_c.392G>T phenoCommon ADH
CASRdb_c.393C>G commonName C131W
CASRdb_c.393C>G protEffect C131W
CASRdb_c.393C>G phenoCommon ADH
CASRdb_c.452C>G commonName T151R
CASRdb_c.452C>G protEffect T151R
CASRdb_c.452C>G phenoCommon ADH
CASRdb_c.452C>T commonName T151M
CASRdb_c.452C>T protEffect T151M
CASRdb_c.452C>T phenoCommon ADH
CASRdb_c.571G>A commonName E191K
CASRdb_c.571G>A protEffect E191K
CASRdb_c.571G>A phenoCommon ADH
CASRdb_c.662C>T commonName P221L
CASRdb_c.662C>T protEffect P221L
CASRdb_c.662C>T phenoCommon ADH
CASRdb_c.682G>A commonName E228K
CASRdb_c.682G>A protEffect E228K
CASRdb_c.682G>A phenoCommon ADH
CASRdb_c.682G>C commonName E228Q
CASRdb_c.682G>C protEffect E228Q
CASRdb_c.682G>C phenoCommon ADH
CASRdb_c.721G>A commonName E241K
CASRdb_c.721G>A protEffect E241K
CASRdb_c.721G>A phenoCommon ADH
CASRdb_c.734A>G commonName Q245R
CASRdb_c.734A>G protEffect Q245R
CASRdb_c.734A>G phenoCommon ADH
CASRdb_c.85A>G commonName K29E
CASRdb_c.85A>G protEffect K29E
CASRdb_c.85A>G phenoCommon ADH
CASRdb_c.891G>C commonName E297D
CASRdb_c.891G>C protEffect E297D
CASRdb_c.891G>C phenoCommon ADH
CASRdb_c1846C>G commonName L616V
CASRdb_c1846C>G protEffect L616V
CASRdb_c1846C>G phenoCommon ADH/Poly?
CASRdb_c.653A>G commonName Y218C
CASRdb_c.653A>G protEffect Y218C
CASRdb_c.653A>G phenoCommon FHH
CASRdb_c.1006_1008delAAG commonName K335_V337del
CASRdb_c.1006_1008delAAG protEffect K335_V337del
CASRdb_c.1006_1008delAAG phenoCommon FIHP
CASRdb_c.1015C>A commonName P339T
CASRdb_c.1015C>A protEffect P339T
CASRdb_c.1015C>A phenoCommon FHH
CASRdb_c.1031_1034delinsT commonName (H344-N345)L
CASRdb_c.1031_1034delinsT protEffect (H344-N345)L
CASRdb_c.1031_1034delinsT phenoCommon NSHPT
CASRdb_c.1051T>G commonName F351V
CASRdb_c.1051T>G protEffect F351V
CASRdb_c.1051T>G phenoCommon FHH
CASRdb_c.1056G>A commonName W352X
CASRdb_c.1056G>A protEffect W352X
CASRdb_c.1056G>A phenoCommon FHH
CASRdb_c.115C>G commonName P39A
CASRdb_c.115C>G protEffect P39A
CASRdb_c.115C>G phenoCommon FHH/NSHPT
CASRdb_c.1174C>T commonName R392X
CASRdb_c.1174C>T protEffect R392X
CASRdb_c.1174C>T phenoCommon NSHPT
CASRdb_c.1183T>C commonName C395R
CASRdb_c.1183T>C protEffect C395R
CASRdb_c.1183T>C phenoCommon FHH
CASRdb_c.1189G>A commonName G397R
CASRdb_c.1189G>A protEffect G397R
CASRdb_c.1189G>A phenoCommon FHH
CASRdb_c.125T>G commonName F42S
CASRdb_c.125T>G protEffect F42S
CASRdb_c.125T>G phenoCommon FHH
CASRdb_c.1280T>G commonName I427S
CASRdb_c.1280T>G protEffect I427S
CASRdb_c.1280T>G phenoCommon TCP
CASRdb_c.1297G>C commonName D433H
CASRdb_c.1297G>C protEffect D433H
CASRdb_c.1297G>C phenoCommon TCP
CASRdb_c.1333A>G commonName T445A
CASRdb_c.1333A>G protEffect T445A
CASRdb_c.1378-19A>C commonName -19A>C
CASRdb_c.1378-19A>C protEffect -19A>C
CASRdb_c.1378-19A>C phenoCommon FHH
CASRdb_c.1393C>T commonName R465W
CASRdb_c.1393C>T protEffect R465W
CASRdb_c.1393C>T phenoCommon FHH
CASRdb_c.1394G>A commonName R465Q
CASRdb_c.1394G>A protEffect R465Q
CASRdb_c.1394G>A phenoCommon FHH
CASRdb_c.1430T>C commonName V477A
CASRdb_c.1430T>C protEffect V477A
CASRdb_c.1430T>C phenoCommon TCP
CASRdb_c.1525G>A commonName G509R
CASRdb_c.1525G>A protEffect G509R
CASRdb_c.1525G>A phenoCommon FHH
CASRdb_c.157T>C commonName S53P
CASRdb_c.157T>C protEffect S53P
CASRdb_c.157T>C phenoCommon FHH
CASRdb_c.1588T>G commonName W530G
CASRdb_c.1588T>G protEffect W530G
CASRdb_c.1588T>G phenoCommon FHH
CASRdb_c.1645G>A commonName G549R
CASRdb_c.1645G>A protEffect G549R
CASRdb_c.1645G>A phenoCommon FHH
CASRdb_c.164C>T commonName P55L
CASRdb_c.164C>T protEffect P55L
CASRdb_c.164C>T phenoCommon FHH
CASRdb_c.1652G>A commonName R551K
CASRdb_c.1652G>A protEffect R551K
CASRdb_c.1652G>A phenoCommon NSHPT
CASRdb_c.1657G>A commonName G553R
CASRdb_c.1657G>A protEffect G553R
CASRdb_c.1657G>A phenoCommon FHH
CASRdb_c.1663A>G commonName I555V
CASRdb_c.1663A>G protEffect I555V
CASRdb_c.1663A>G phenoCommon FHH
CASRdb_c.1670G>A commonName G557E
CASRdb_c.1670G>A protEffect G557E
CASRdb_c.1670G>A phenoCommon FHH
CASRdb_c.1685G>A commonName C562Y
CASRdb_c.1685G>A protEffect C562Y
CASRdb_c.1685G>A phenoCommon FHH
CASRdb_c.1703G>A commonName C568Y
CASRdb_c.1703G>A protEffect C568Y
CASRdb_c.1703G>A phenoCommon FHH
CASRdb_c.1719T>A commonName Y573X
CASRdb_c.1719T>A protEffect Y573X
CASRdb_c.1719T>A phenoCommon FHH
CASRdb_c.1745G>A commonName C582Y
CASRdb_c.1745G>A protEffect C582Y
CASRdb_c.1745G>A phenoCommon FHH
CASRdb_c.1745G>T commonName C582F
CASRdb_c.1745G>T protEffect C582F
CASRdb_c.1745G>T phenoCommon FHH
CASRdb_c.1746_1747insT commonName N583X
CASRdb_c.1746_1747insT protEffect N583X
CASRdb_c.1746_1747insT phenoCommon FHH
CASRdb_c.1772C>G commonName S591C
CASRdb_c.1772C>G protEffect S591C
CASRdb_c.1772C>G phenoCommon NSHPT
CASRdb_c.1783C>T commonName H595Y
CASRdb_c.1783C>T protEffect H595Y
CASRdb_c.1783C>T phenoCommon FHH
CASRdb_c.179G>T commonName C60F
CASRdb_c.179G>T protEffect C60F
CASRdb_c.179G>T phenoCommon NSHPT
CASRdb_c.1820C>A commonName S607X
CASRdb_c.1820C>A protEffect S607X
CASRdb_c.1820C>A phenoCommon FHH
CASRdb_c.185G>T commonName R62M
CASRdb_c.185G>T protEffect R62M
CASRdb_c.185G>T phenoCommon FHH/NSHPT
CASRdb_c.1868G>A commonName G623D
CASRdb_c.1868G>A protEffect G623D
CASRdb_c.1868G>A phenoCommon FHH
CASRdb_c.1913G>T commonName R638L
CASRdb_c.1913G>T protEffect R638L
CASRdb_c.1913G>T phenoCommon FHH/NSHPT
CASRdb_c.1942C>T commonName R648X
CASRdb_c.1942C>T protEffect R648X
CASRdb_c.1942C>T phenoCommon FHH
CASRdb_c.1949T>C commonName L650P
CASRdb_c.1949T>C protEffect L650P
CASRdb_c.1949T>C phenoCommon FIHP
CASRdb_c.196C>T commonName R66C
CASRdb_c.196C>T protEffect R66C
CASRdb_c.196C>T phenoCommon FHH/NSHPT
CASRdb_c.1970C>A commonName S657Y
CASRdb_c.1970C>A protEffect S657Y
CASRdb_c.1970C>A phenoCommon FHH
CASRdb_c.197G>A commonName R66H
CASRdb_c.197G>A protEffect R66H
CASRdb_c.197G>A phenoCommon NSHPT
CASRdb_c.1982G>A commonName C661Y
CASRdb_c.1982G>A protEffect C661Y
CASRdb_c.1982G>A phenoCommon FHH
CASRdb_c.1997T>C commonName L666P
CASRdb_c.1997T>C protEffect L666P
CASRdb_c.1997T>C phenoCommon FHH
CASRdb_c.1997_1998insT commonName L666ins/fsX707
CASRdb_c.1997_1998insT protEffect L666ins/fsX707
CASRdb_c.1997_1998insT phenoCommon FHH
CASRdb_c.19_20insT commonName C7ins/fsX47
CASRdb_c.19_20insT protEffect C7ins/fsX47
CASRdb_c.19_20insT phenoCommon FHH
CASRdb_c.2008G>A commonName G670R
CASRdb_c.2008G>A protEffect G670R
CASRdb_c.2008G>A phenoCommon FHH
CASRdb_c.2009G>A commonName G670E
CASRdb_c.2009G>A protEffect G670E
CASRdb_c.2009G>A phenoCommon FHH/NSHPT
CASRdb_c.2038C>T commonName R680C
CASRdb_c.2038C>T protEffect R680C
CASRdb_c.2038C>T phenoCommon FHH
CASRdb_c.2039G>A commonName R680H
CASRdb_c.2039G>A protEffect R680H
CASRdb_c.2039G>A phenoCommon FHH
CASRdb_c.2065G>A commonName V689M
CASRdb_c.2065G>A protEffect V689M
CASRdb_c.2065G>A phenoCommon FIHP
CASRdb_c.206G>A commonName R69H
CASRdb_c.206G>A protEffect R69H
CASRdb_c.206G>A phenoCommon FHH
CASRdb_c.2154G>A commonName W718X
CASRdb_c.2154G>A protEffect W718X
CASRdb_c.2154G>A phenoCommon FHH
CASRdb_c.2182G>A commonName V728I
CASRdb_c.2182G>A protEffect V728I
CASRdb_c.2182G>A phenoCommon FHH
CASRdb_c.2201T>G commonName M734R
CASRdb_c.2201T>G protEffect M734R
CASRdb_c.2201T>G phenoCommon FHH
CASRdb_c.2224T>C commonName W742R
CASRdb_c.2224T>C protEffect W742R
CASRdb_c.2224T>C phenoCommon FHH
CASRdb_c.2240_2241delCCinsT commonName P747ins/fsX776
CASRdb_c.2240_2241delCCinsT protEffect P747ins/fsX776
CASRdb_c.2240_2241delCCinsT phenoCommon NSHPT
CASRdb_c.2243C>A commonName P748H
CASRdb_c.2243C>A protEffect P748H
CASRdb_c.2243C>A phenoCommon FHH
CASRdb_c.2243C>G commonName P748R
CASRdb_c.2243C>G protEffect P748R
CASRdb_c.2243C>G phenoCommon FHH
CASRdb_c.2243C>T commonName P748L
CASRdb_c.2243C>T protEffect P748L
CASRdb_c.2243C>T phenoCommon FHH
CASRdb_c.2265G>T commonName E755D
CASRdb_c.2265G>T protEffect E755D
CASRdb_c.2281_2283delATC commonName I761del
CASRdb_c.2281_2283delATC protEffect I761del
CASRdb_c.2281_2283delATC phenoCommon FHH
CASRdb_c.2295C>G commonName C765W
CASRdb_c.2295C>G protEffect C765W
CASRdb_c.2295C>G phenoCommon FHH
CASRdb_c.2333G>A commonName G778D
CASRdb_c.2333G>A protEffect G778D
CASRdb_c.2333G>A phenoCommon FHH
CASRdb_c.2383C>T commonName R795W
CASRdb_c.2383C>T protEffect R795W
CASRdb_c.2383C>T phenoCommon FHH
CASRdb_c.2383delC commonName R795Gdel/fsX836
CASRdb_c.2383delC protEffect R795Gdel/fsX836
CASRdb_c.2383delC phenoCommon FHH
CASRdb_c.2392C>A commonName P798T
CASRdb_c.2392C>A protEffect P798T
CASRdb_c.2392C>A phenoCommon FHH
CASRdb_c.2411C>A commonName A804D
CASRdb_c.2411C>A protEffect A804D
CASRdb_c.2411C>A phenoCommon FHH/NSHPT
CASRdb_c.2427C>G commonName F809L
CASRdb_c.2427C>G protEffect F809L
CASRdb_c.2427C>G phenoCommon FHH
CASRdb_c.243A>G commonName I81M
CASRdb_c.243A>G protEffect I81M
CASRdb_c.243A>G phenoCommon FHH
CASRdb_c.2449G>A commonName V817I
CASRdb_c.2449G>A protEffect V817I
CASRdb_c.2449G>A phenoCommon FHH
CASRdb_c.2476G>A commonName A826T
CASRdb_c.2476G>A protEffect A826T
CASRdb_c.2495T>G commonName F832S
CASRdb_c.2495T>G protEffect F832S
CASRdb_c.2495T>G phenoCommon FHH
CASRdb_c.2501delC commonName S834del/fsX836
CASRdb_c.2501delC protEffect S834del/fsX836
CASRdb_c.2501delC phenoCommon FHH
CASRdb_c.2546T>C commonName L849P
CASRdb_c.2546T>C protEffect L849P
CASRdb_c.2546T>C phenoCommon FHH
CASRdb_c.2550_2551insCCAG commonName A850ins/fsX981
CASRdb_c.2550_2551insCCAG protEffect A850ins/fsX981
CASRdb_c.2550_2551insCCAG phenoCommon FHH
CASRdb_c.2551T>A commonName C851S
CASRdb_c.2551T>A protEffect C851S
CASRdb_c.2627_2628insAlu commonName T876 Alu ins
CASRdb_c.2627_2628insAlu protEffect T876 Alu ins
CASRdb_c.2627_2628insAlu phenoCommon FHH/NSHPT
CASRdb_c.2641T>C commonName F881L
CASRdb_c.2641T>C protEffect F881L
CASRdb_c.2641T>C phenoCommon FHH
CASRdb_c.2656C>T commonName R886W
CASRdb_c.2656C>T protEffect R886W
CASRdb_c.2656C>T phenoCommon FHH
CASRdb_c.2657G>C commonName R886P
CASRdb_c.2657G>C protEffect R886P
CASRdb_c.2657G>C phenoCommon FIHP
CASRdb_c.2687G>A commonName R896H
CASRdb_c.2687G>A protEffect R896H
CASRdb_c.2687G>A phenoCommon FHH
CASRdb_c.2777A>G commonName Q926R
CASRdb_c.2777A>G protEffect Q926R
CASRdb_c.2777A>G phenoCommon FHH
CASRdb_c.280G>C commonName G94R
CASRdb_c.280G>C protEffect G94R
CASRdb_c.280G>C phenoCommon FHH
CASRdb_c.280G>T commonName G94X
CASRdb_c.280G>T protEffect G94X
CASRdb_c.280G>T phenoCommon NSHPT
CASRdb_c.2956G>T commonName A986S
CASRdb_c.2956G>T protEffect A986S
CASRdb_c.299C>T commonName T100I
CASRdb_c.299C>T protEffect T100I
CASRdb_c.299C>T phenoCommon FIHP
CASRdb_c.2T>G commonName M1R
CASRdb_c.2T>G protEffect M1R
CASRdb_c.2T>G phenoCommon FHH/NSHPT
CASRdb_c.3013G>A commonName D1005N
CASRdb_c.3013G>A protEffect D1005N
CASRdb_c.3013G>A phenoCommon FHH
CASRdb_c.3031C>G commonName Q1011E
CASRdb_c.3031C>G protEffect Q1011E
CASRdb_c.3235T>C commonName X1079QextX1087
CASRdb_c.3235T>C protEffect X1079QextX1087
CASRdb_c.3235T>C phenoCommon FHH
CASRdb_c.32T>C commonName L11S
CASRdb_c.32T>C protEffect L11S
CASRdb_c.32T>C phenoCommon FHH
CASRdb_c.38T>C commonName L13P
CASRdb_c.38T>C protEffect L13P
CASRdb_c.38T>C phenoCommon FHH
CASRdb_c.409T>C commonName S137P
CASRdb_c.409T>C protEffect S137P
CASRdb_c.409T>C phenoCommon FHH
CASRdb_c.40A>G commonName T14A
CASRdb_c.40A>G protEffect T14A
CASRdb_c.413C>T commonName T138M
CASRdb_c.413C>T protEffect T138M
CASRdb_c.413C>T phenoCommon FHH
CASRdb_c.427G>C commonName G143R
CASRdb_c.427G>C protEffect G143R
CASRdb_c.427G>C phenoCommon FHH
CASRdb_c.428G>A commonName G143E
CASRdb_c.428G>A protEffect G143E
CASRdb_c.428G>A phenoCommon FHH
CASRdb_c.472G>C commonName G158R
CASRdb_c.472G>C protEffect G158R
CASRdb_c.472G>C phenoCommon FHH
CASRdb_c.476T>C commonName L159P
CASRdb_c.476T>C protEffect L159P
CASRdb_c.476T>C phenoCommon FIHP
CASRdb_c.482A>G commonName Y161C
CASRdb_c.482A>G protEffect Y161C
CASRdb_c.482A>G phenoCommon NSHPT
CASRdb_c.488C>G commonName P163R
CASRdb_c.488C>G protEffect P163R
CASRdb_c.488C>G phenoCommon TCP
CASRdb_c.490C>T commonName Q164X
CASRdb_c.490C>T protEffect Q164X
CASRdb_c.490C>T phenoCommon NSHPT
CASRdb_c.492+1G>C commonName +1g>c
CASRdb_c.492+1G>C protEffect +1g>c
CASRdb_c.492+1G>C phenoCommon FHH
CASRdb_c.493-1G>T commonName -1g>t
CASRdb_c.493-1G>T protEffect -1g>t
CASRdb_c.493-1G>T phenoCommon FHH/NSHPT
CASRdb_c.496A>G commonName S166G
CASRdb_c.496A>G protEffect S166G
CASRdb_c.496A>G phenoCommon FHH
CASRdb_c.512G>A commonName S171N
CASRdb_c.512G>A protEffect S171N
CASRdb_c.512G>A phenoCommon FHH
CASRdb_c.514A>G commonName R172G
CASRdb_c.514A>G protEffect R172G
CASRdb_c.514A>G phenoCommon FHH
CASRdb_c.518T>C commonName L173P
CASRdb_c.518T>C protEffect L173P
CASRdb_c.518T>C phenoCommon FHH
CASRdb_c.521T>G commonName L174R
CASRdb_c.521T>G protEffect L174R
CASRdb_c.521T>G phenoCommon FHH
CASRdb_c.532A>G commonName N178D
CASRdb_c.532A>G protEffect N178D
CASRdb_c.532A>G phenoCommon FHH
CASRdb_c.539T>G commonName F180C
CASRdb_c.539T>G protEffect F180C
CASRdb_c.539T>G phenoCommon FHH
CASRdb_c.553C>T commonName R185X
CASRdb_c.553C>T protEffect R185X
CASRdb_c.553C>T phenoCommon FHH/NSHPT
CASRdb_c.554G>A commonName R185Q
CASRdb_c.554G>A protEffect R185Q
CASRdb_c.554G>A phenoCommon FHH
CASRdb_c.570delT commonName D190EfsX154
CASRdb_c.570delT protEffect D190EfsX154
CASRdb_c.570delT phenoCommon NSHPT
CASRdb_c.580G>A commonName A194T
CASRdb_c.580G>A protEffect A194T
CASRdb_c.580G>A phenoCommon FHH
CASRdb_c.60C>T commonName Y20H
CASRdb_c.60C>T protEffect Y20H
CASRdb_c.61G>C commonName G21R
CASRdb_c.61G>C protEffect G21R
CASRdb_c.61G>C phenoCommon FHH
CASRdb_c.623G>C commonName W208S
CASRdb_c.623G>C protEffect W208S
CASRdb_c.623G>C phenoCommon FHH
CASRdb_c.635T>C commonName I212T
CASRdb_c.635T>C protEffect I212T
CASRdb_c.635T>C phenoCommon FHH
CASRdb_c.635T>G commonName I212S
CASRdb_c.635T>G protEffect I212S
CASRdb_c.635T>G phenoCommon NSHPT
CASRdb_c.644A>G commonName D215G
CASRdb_c.644A>G protEffect D215G
CASRdb_c.644A>G phenoCommon FHH
CASRdb_c.653A>C commonName Y218S
CASRdb_c.653A>C protEffect Y218S
CASRdb_c.653A>C phenoCommon FHH
CASRdb_c.658C>T commonName R220W
CASRdb_c.658C>T protEffect R220W
CASRdb_c.658C>T phenoCommon FHH
CASRdb_c.659G>A commonName R220Q
CASRdb_c.659G>A protEffect R220Q
CASRdb_c.659G>A phenoCommon FHH
CASRdb_c.659G>C commonName R220P
CASRdb_c.659G>C protEffect R220P
CASRdb_c.659G>C phenoCommon FHH
CASRdb_c.661C>T commonName P221S
CASRdb_c.661C>T protEffect P221S
CASRdb_c.661C>T phenoCommon FHH
CASRdb_c.662C>A commonName P221Q
CASRdb_c.662C>A protEffect P221Q
CASRdb_c.662C>A phenoCommon FHH
CASRdb_c.674A>C commonName K225T
CASRdb_c.674A>C protEffect K225T
CASRdb_c.674A>C phenoCommon FHH
CASRdb_c.680G>A commonName R227Q
CASRdb_c.680G>A protEffect R227Q
CASRdb_c.680G>A phenoCommon FHH
CASRdb_c.680G>T commonName R227L
CASRdb_c.680G>T protEffect R227L
CASRdb_c.680G>T phenoCommon NSHPT
CASRdb_c.73C>T commonName R25X
CASRdb_c.73C>T protEffect R25X
CASRdb_c.73C>T phenoCommon FHH
CASRdb_c.748G>A commonName E250K
CASRdb_c.748G>A protEffect E250K
CASRdb_c.748G>A phenoCommon FHH
CASRdb_c.801_812del11 commonName V268del/fsX273
CASRdb_c.801_812del11 protEffect V268del/fsX273
CASRdb_c.801_812del11 phenoCommon FIHP
CASRdb_c.80A>G commonName Q27R
CASRdb_c.80A>G protEffect Q27R
CASRdb_c.80A>G phenoCommon NSHPT
CASRdb_c.812C>T commonName S271F
CASRdb_c.812C>T protEffect S271F
CASRdb_c.812C>T phenoCommon FHH
CASRdb_c.820C>T commonName P274S
CASRdb_c.820C>T protEffect P274S
CASRdb_c.848T>C commonName I283T
CASRdb_c.848T>C protEffect I283T
CASRdb_c.848T>C phenoCommon PHPT
CASRdb_c.853C>T commonName R285W
CASRdb_c.853C>T protEffect R285W
CASRdb_c.883G>A commonName A295T
CASRdb_c.883G>A protEffect A295T
CASRdb_c.883G>A phenoCommon FHH
CASRdb_c.887G>A commonName S296N
CASRdb_c.887G>A protEffect S296N
CASRdb_c.887G>A phenoCommon FHH
CASRdb_c.889G>A commonName E297K
CASRdb_c.889G>A protEffect E297K
CASRdb_c.889G>A phenoCommon FHH
CASRdb_c.961G>C commonName A321P
CASRdb_c.961G>C protEffect A321P
CASRdb_c.961G>C phenoCommon FHH
CASRdb_c.967A>T commonName K323X
CASRdb_c.967A>T protEffect K323X
CASRdb_c.967A>T phenoCommon FHH
HIFD_KRT10:c.467G>A commonName c.467G>A
HIFD_KRT10:c.467G>A protEffect p.Arg156His
HIFD_KRT10:c.467G>A phenoCommon BCIE/EHK
HIFD_KRT10:c.482T>C commonName c.482T>C
HIFD_KRT10:c.482T>C protEffect p.Leu161Ser
HIFD_KRT10:c.482T>C phenoCommon BCIE/EHK
HIFD_KRT10:c.467G>C commonName c.467G>C
HIFD_KRT10:c.467G>C protEffect p.Arg156Pro
HIFD_KRT10:c.467G>C phenoCommon BCIE/EHK
HIFD_KRT10:c.466C>A commonName c.466C>A
HIFD_KRT10:c.466C>A protEffect p.Arg156Ser
HIFD_KRT10:c.466C>A phenoCommon BCIE/EHK
HIFD_KRT10:c.466C>T commonName c.466C>T
HIFD_KRT10:c.466C>T protEffect p.Arg156Cys
HIFD_KRT10:c.466C>T phenoCommon BCIE/EHK
HIFD_KRT10:c.460A>C commonName c.460A>C
HIFD_KRT10:c.460A>C protEffect p.Asn154His
HIFD_KRT10:c.460A>C phenoCommon BCIE/EHK
HIFD_KRT10:c.478T>G commonName c.478T>G
HIFD_KRT10:c.478T>G protEffect p.Tyr160Asp
HIFD_KRT10:c.478T>G phenoCommon BCIE/EHK
HIFD_KRT10:c.1325T>A commonName c.1325T>A
HIFD_KRT10:c.1325T>A protEffect p.Leu442Gln
HIFD_KRT10:c.1325T>A phenoCommon BCIE/EHK
HIFD_KRT10:c.467G>T commonName c.467G>T
HIFD_KRT10:c.467G>T protEffect p.Arg156Leu
HIFD_KRT10:c.467G>T phenoCommon BCIE/EHK
HIFD_KRT10:c.449T>G commonName c.449T>G
HIFD_KRT10:c.449T>G protEffect p.Met150Arg
HIFD_KRT10:c.449T>G phenoCommon BCIE/EHK
HIFD_KRT10:c.1315A>G commonName c.1315A>G
HIFD_KRT10:c.1315A>G protEffect p.Lys439Glu
HIFD_KRT10:c.1315A>G phenoCommon BCIE/EHK
HIFD_KRT10:c.449T>C commonName c.449T>C
HIFD_KRT10:c.449T>C protEffect p.Met150Thr
HIFD_KRT10:c.449T>C phenoCommon BCIE/EHK
HIFD_KRT10:c.1264_1265delCGinsGA commonName c.1264_1265delCGinsGA
HIFD_KRT10:c.1264_1265delCGinsGA protEffect p.Arg422Glu
HIFD_KRT10:c.1264_1265delCGinsGA phenoCommon CIEH
HIFD_KRT10:c.472G>C commonName c.472G>C
HIFD_KRT10:c.472G>C protEffect p.Ala158Pro
HIFD_KRT10:c.472G>C phenoCommon BCIE/EHK
HIFD_KRT10:c.1337T>C commonName c.1337T>C
HIFD_KRT10:c.1337T>C protEffect p.Ile446Thr
HIFD_KRT10:c.1337T>C phenoCommon CIEH
HIFD_KRT10:c.479A>C commonName c.479A>C
HIFD_KRT10:c.479A>C protEffect p.Tyr160Ser
HIFD_KRT10:c.479A>C phenoCommon BCIE/EHK
HIFD_KRT10:c.1355T>C commonName c.1355T>C
HIFD_KRT10:c.1355T>C protEffect p.Leu452Pro
HIFD_KRT10:c.1355T>C phenoCommon BCIE/EHK
HIFD_KRT10:c.465_466delCCinsAA commonName c.465_466delCCinsAA
HIFD_KRT10:c.465_466delCCinsAA protEffect p.Asp155_Arg156delinsGluSer
HIFD_KRT10:c.465_466delCCinsAA phenoCommon BCIE/EHK
HIFD_KRT10:c.457C>G commonName c.457C>G
HIFD_KRT10:c.457C>G protEffect p.Leu153Val
HIFD_KRT10:c.457C>G phenoCommon BCIE/EHK
HIFD_KRT10:c.466C>G commonName c.466C>G
HIFD_KRT10:c.466C>G protEffect p.Arg156Gly
HIFD_KRT10:c.466C>G phenoCommon BCIE/EHK
HIFD_KRT10:c.1358T>C commonName c.1358T>C
HIFD_KRT10:c.1358T>C protEffect p.Leu453Pro
HIFD_KRT10:c.1358T>C phenoCommon BCIE/EHK
HIFD_KRT10:c.481_486delTTGGAC commonName c.481_486delTTGGAC
HIFD_KRT10:c.481_486delTTGGAC protEffect p.Leu161_Asp162del
HIFD_KRT10:c.481_486delTTGGAC phenoCommon BCIE/EHK
HIFD_KRT10:c.1300C>T commonName c.1300C>T
HIFD_KRT10:c.1300C>T protEffect p.Gln434X
HIFD_KRT10:c.1300C>T phenoCommon BCIE/EHK
HIFD_KRT10:c.466C>T phenoCommon EPPK
HIFD_KRT10:c.1281_1282delCCinsAA commonName c.1281_1282delCCinsAA
HIFD_KRT10:c.1281_1282delCCinsAA protEffect p.Cys427X
HIFD_KRT10:c.1281_1282delCCinsAA phenoCommon BCIE/EHK
HIFD_KRT10:c.1340A>C commonName c.1340A>C
HIFD_KRT10:c.1340A>C protEffect p.Gln447Pro
HIFD_KRT10:c.1340A>C phenoCommon BCIE/EHK
HIFD_KRT10:c.1314_1315insC commonName c.1314_1315insC
HIFD_KRT10:c.1314_1315insC protEffect p.Lys439GlnfsX6
HIFD_KRT10:c.1314_1315insC phenoCommon BCIE/EHK
HIFD_KRT10:c.1333G>A commonName c.1333G>A
HIFD_KRT10:c.1333G>A protEffect p.Glu445Lys
HIFD_KRT10:c.1333G>A phenoCommon BCIE/EHK
HIFD_KRT10:c.1155+5G>A commonName c.1155+5G>A
HIFD_KRT10:c.1155+5G>A protEffect p.=
HIFD_KRT10:c.1155+5G>A phenoCommon BCIE/EHK
HIFD_KRT10:c.1450_1451insC commonName c.1450_1451insC
HIFD_KRT10:c.1450_1451insC protEffect p.Gly484ArgfsX97
HIFD_KRT10:c.1450_1451insC phenoCommon CRIE
HIFD_KRT10:c.449T>C phenoCommon CIEH
HIFD_KRT10:c.449T>G phenoCommon CIEH
HIFD_KRT10:c.466C>T phenoCommon CIEH
HIFD_KRT10:c.467G>A phenoCommon CIEH
HIFD_KRT10:c.1300C>T phenoCommon CIEH
HIFD_KRT10:c.1314_1315insC phenoCommon CIEH
HIFD_KRT10:c.1346A>G commonName c.1346A>G
HIFD_KRT10:c.1346A>G protEffect p.Tyr449Cys
HIFD_KRT10:c.1346A>G phenoCommon CIEH
HIFD_KRT10:c.1560_1561delCG commonName c.1560_1561delCG
HIFD_KRT10:c.1560_1561delCG protEffect p.Gly521ProfsX59
HIFD_KRT10:c.1560_1561delCG phenoCommon CRIE
HIFD_KRT10:c.376G>A commonName c.376G>A
HIFD_KRT10:c.376G>A protEffect p.Gly126Ser
HIFD_KRT10:c.376G>A phenoCommon CRIE
HIFD_KRT10:c.1459C>T commonName c.1459C>T
HIFD_KRT10:c.1459C>T protEffect p.His487Tyr
HIFD_KRT10:c.1459C>T phenoCommon CRIE
HIFD_complex_1 commonName c.[1468_1479delGGCCACGGCGGC; 1546_1551delGGAAGCinsT]
HIFD_complex_1 protEffect p.[Gly490_Gly493del; Gly516SerfsX63]
HIFD_complex_1 phenoCommon CRIE
HIFD_KRT12:c.427G>C commonName c.427G>C
HIFD_KRT12:c.427G>C protEffect p.Val143Leu
HIFD_KRT12:c.427G>C phenoCommon MCD
HIFD_KRT12:c.404G>C commonName c.404G>C
HIFD_KRT12:c.404G>C protEffect p.Arg135Thr
HIFD_KRT12:c.404G>C phenoCommon MCD
HIFD_KRT12:c.403A>G commonName c.403A>G
HIFD_KRT12:c.403A>G protEffect p.Arg135Gly
HIFD_KRT12:c.403A>G phenoCommon MCD
HIFD_KRT12:c.404G>T commonName c.404G>T
HIFD_KRT12:c.404G>T protEffect p.Arg135Ile
HIFD_KRT12:c.404G>T phenoCommon MCD
HIFD_KRT12:c.419T>G commonName c.419T>G
HIFD_KRT12:c.419T>G protEffect p.Leu140Arg
HIFD_KRT12:c.419T>G phenoCommon MCD
HIFD_KRT12:c.1285T>G commonName c.1285T>G
HIFD_KRT12:c.1285T>G protEffect p.Tyr429Asp
HIFD_KRT12:c.1285T>G phenoCommon MCD
HIFD_KRT12:c.1276A>G commonName c.1276A>G
HIFD_KRT12:c.1276A>G protEffect p.Ile426Val
HIFD_KRT12:c.1276A>G phenoCommon MCD
HIFD_KRT12:c.386T>C commonName c.386T>C
HIFD_KRT12:c.386T>C protEffect p.Met129Thr
HIFD_KRT12:c.386T>C phenoCommon MCD
HIFD_KRT12:c.389A>C commonName c.389A>C
HIFD_KRT12:c.389A>C protEffect p.Gln130Pro
HIFD_KRT12:c.389A>C phenoCommon MCD
HIFD_KRT12:c.399T>G commonName c.399T>G
HIFD_KRT12:c.399T>G protEffect p.Asn133Lys
HIFD_KRT12:c.399T>G phenoCommon MCD
HIFD_KRT12:c.409G>C commonName c.409G>C
HIFD_KRT12:c.409G>C protEffect p.Ala137Pro
HIFD_KRT12:c.409G>C phenoCommon MCD
HIFD_KRT12:c.405A>C commonName c.405A>C
HIFD_KRT12:c.405A>C protEffect p.Arg135Ser
HIFD_KRT12:c.405A>C phenoCommon MCD
HIFD_KRT12:c.1197_1198ins27 commonName c.1197_1198insATCAGCAACCTGGAGGCACAGCTGCTC
HIFD_KRT12:c.1197_1198ins27 protEffect p.Leu399_Gln400ins9
HIFD_KRT12:c.1197_1198ins27 phenoCommon MCD
HIFD_KRT12:c.1286A>G commonName c.1286A>G
HIFD_KRT12:c.1286A>G protEffect p.Tyr429Cys
HIFD_KRT12:c.1286A>G phenoCommon MCD
HIFD_KRT12:c.1277T>G commonName c.1277T>G
HIFD_KRT12:c.1277T>G protEffect p.Ile426Ser
HIFD_KRT12:c.1277T>G phenoCommon MCD
HIFD_KRT12:c.1289G>C commonName c.1289G>C
HIFD_KRT12:c.1289G>C protEffect p.Arg430Pro
HIFD_KRT12:c.1289G>C phenoCommon MCD
HIFD_KRT12:c.427G>T commonName c.427G>T
HIFD_KRT12:c.427G>T protEffect p.Val143Leu
HIFD_KRT12:c.427G>T phenoCommon MCD
HIFD_KRT12:c.1298T>G commonName c.1298T>G
HIFD_KRT12:c.1298T>G protEffect p.Leu433Arg
HIFD_KRT12:c.1298T>G phenoCommon MCD
HIFD_KRT12:c.385A>G commonName c.385A>G
HIFD_KRT12:c.385A>G protEffect p.Met129Val
HIFD_KRT12:c.385A>G phenoCommon MCD
HIFD_KRT13:c.356T>C commonName c.356T>C
HIFD_KRT13:c.356T>C protEffect p.Leu119Pro
HIFD_KRT13:c.356T>C phenoCommon WSN
HIFD_KRT13:c.344T>C commonName c.344T>C
HIFD_KRT13:c.344T>C protEffect p.Leu115Pro
HIFD_KRT13:c.344T>C phenoCommon WSN
HIFD_KRT13:c.323T>C commonName c.323T>C
HIFD_KRT13:c.323T>C protEffect p.Met108Thr
HIFD_KRT13:c.323T>C phenoCommon WSN
HIFD_KRT13:c.335A>G commonName c.335A>G
HIFD_KRT13:c.335A>G protEffect p.Asn112Ser
HIFD_KRT13:c.335A>G phenoCommon WSN
HIFD_KRT13:c.332T>C commonName c.332T>C
HIFD_KRT13:c.332T>C protEffect p.Leu111Pro
HIFD_KRT13:c.332T>C phenoCommon WSN
HIFD_KRT13:c.341G>A commonName c.341G>A
HIFD_KRT13:c.341G>A protEffect p.Arg114His
HIFD_KRT13:c.341G>A phenoCommon WSN
HIFD_KRT14:c.1151T>C commonName c.1151T>C
HIFD_KRT14:c.1151T>C protEffect p.Leu384Pro
HIFD_KRT14:c.1151T>C phenoCommon EBS-K
HIFD_KRT14:c.373C>T commonName c.373C>T
HIFD_KRT14:c.373C>T protEffect p.Arg125Cys
HIFD_KRT14:c.373C>T phenoCommon EBS-DM
HIFD_KRT14:c.374G>A commonName c.374G>A
HIFD_KRT14:c.374G>A protEffect p.Arg125His
HIFD_KRT14:c.374G>A phenoCommon EBS-DM
HIFD_KRT14:c.808G>A commonName c.808G>A
HIFD_KRT14:c.808G>A protEffect p.Val270Met
HIFD_KRT14:c.808G>A phenoCommon EBS-WC
HIFD_KRT14:c.1123_1125delGAG commonName c.1123_1125delGAG
HIFD_KRT14:c.1123_1125delGAG protEffect p.Glu375del
HIFD_KRT14:c.1123_1125delGAG phenoCommon EBS-WC
HIFD_KRT14:c.313_314delGC commonName c.313_314delGC
HIFD_KRT14:c.313_314delGC protEffect p.Ala105TrpfsX3
HIFD_KRT14:c.313_314delGC phenoCommon REBS-K
HIFD_KRT14:c.612T>A commonName c.612T>A
HIFD_KRT14:c.612T>A protEffect p.Tyr204X
HIFD_KRT14:c.612T>A phenoCommon REBS-K
HIFD_KRT14:c.364C>T commonName c.364C>T
HIFD_KRT14:c.364C>T protEffect p.Leu122Phe
HIFD_KRT14:c.364C>T phenoCommon EBS-K
HIFD_KRT14:c.431A>C commonName c.431A>C
HIFD_KRT14:c.431A>C protEffect p.Glu144Ala
HIFD_KRT14:c.431A>C phenoCommon REBS-WC
HIFD_KRT14:c.359A>G commonName c.359A>G
HIFD_KRT14:c.359A>G protEffect p.Gln120Arg
HIFD_KRT14:c.359A>G phenoCommon EBS-DM
HIFD_KRT14:c.821C>A commonName c.821C>A
HIFD_KRT14:c.821C>A protEffect p.Ala274Asp
HIFD_KRT14:c.821C>A phenoCommon EBS-WC
HIFD_KRT14:c.1130T>A commonName c.1130T>A
HIFD_KRT14:c.1130T>A protEffect p.Ile377Asn
HIFD_KRT14:c.1130T>A phenoCommon EBS-WC
HIFD_KRT14:c.1162C>T commonName c.1162C>T
HIFD_KRT14:c.1162C>T protEffect p.Arg388Cys
HIFD_KRT14:c.1162C>T phenoCommon EBS-WC
HIFD_KRT14:c.815T>G commonName c.815T>G
HIFD_KRT14:c.815T>G protEffect p.Met272Arg
HIFD_KRT14:c.815T>G phenoCommon EBS-K
HIFD_KRT14:c.385T>G commonName c.385T>G
HIFD_KRT14:c.385T>G protEffect p.Tyr129Asp
HIFD_KRT14:c.385T>G phenoCommon EBS-DM
HIFD_KRT14:c.526-2A>C commonName c.526-2A>C
HIFD_KRT14:c.526-2A>C protEffect "p.[Ile176ValfsX2, Ile176ProfsX30]"
HIFD_KRT14:c.526-2A>C phenoCommon REBS-K
HIFD_KRT14:c.357G>A commonName c.357G>A
HIFD_KRT14:c.357G>A protEffect p.Met119Ile
HIFD_KRT14:c.357G>A phenoCommon EBS-DM
HIFD_KRT14:c.915G>A commonName c.915G>A
HIFD_KRT14:c.915G>A protEffect p.Trp305X
HIFD_KRT14:c.915G>A phenoCommon REBS-K
HIFD_KRT14:c.356T>C commonName c.356T>C
HIFD_KRT14:c.356T>C protEffect p.Met119Thr
HIFD_KRT14:c.356T>C phenoCommon EBS-DM
HIFD_KRT14:c.818A>G commonName c.818A>G
HIFD_KRT14:c.818A>G protEffect p.Asp273Gly
HIFD_KRT14:c.818A>G phenoCommon EBS-WC
HIFD_KRT14:c.368A>G commonName c.368A>G
HIFD_KRT14:c.368A>G protEffect p.Asn123Ser
HIFD_KRT14:c.368A>G phenoCommon EBS-DM
HIFD_KRT14:c.348G>C commonName c.348G>C
HIFD_KRT14:c.348G>C protEffect p.Lys116Asn
HIFD_KRT14:c.348G>C phenoCommon EBS-DM
HIFD_KRT14:c.428T>C commonName c.428T>C
HIFD_KRT14:c.428T>C protEffect p.Leu143Pro
HIFD_KRT14:c.428T>C phenoCommon EBS-DM
HIFD_KRT14:c.1243T>C commonName c.1243T>C
HIFD_KRT14:c.1243T>C protEffect p.Tyr415His
HIFD_KRT14:c.1243T>C phenoCommon EBS-K
HIFD_KRT14:c.1256T>A commonName c.1256T>A
HIFD_KRT14:c.1256T>A protEffect p.Leu419Gln
HIFD_KRT14:c.1256T>A phenoCommon EBS-DM
HIFD_KRT14:c.1264G>A commonName c.1264G>A
HIFD_KRT14:c.1264G>A protEffect p.Glu422Lys
HIFD_KRT14:c.1264G>A phenoCommon EBS-WC
HIFD_KRT14:c.526-2A>C phenoCommon REBS
HIFD_KRT14:c.1243T>C phenoCommon EBS-DM
HIFD_KRT14:c.401G>C commonName c.401G>C
HIFD_KRT14:c.401G>C protEffect p.Arg134Pro
HIFD_KRT14:c.401G>C phenoCommon EBS-K
HIFD_KRT14:c.92delT commonName c.92delT
HIFD_KRT14:c.92delT protEffect p.Ile31ThrfsX87
HIFD_KRT14:c.92delT phenoCommon REBS
HIFD_KRT14:c.355A>G commonName c.355A>G
HIFD_KRT14:c.355A>G protEffect p.Met119Val
HIFD_KRT14:c.355A>G phenoCommon EBS-K
HIFD_KRT14:c.529_534delCTCACA commonName c.529_534delCTCACA
HIFD_KRT14:c.529_534delCTCACA protEffect p.Leu177_Thr178del
HIFD_KRT14:c.529_534delCTCACA phenoCommon REBS
HIFD_KRT14:c.528T>G commonName c.528T>G
HIFD_KRT14:c.528T>G protEffect p.Ile176Met
HIFD_KRT14:c.528T>G phenoCommon REBS
HIFD_KRT14:c.1231G>T commonName c.1231G>T
HIFD_KRT14:c.1231G>T protEffect p.Glu411X
HIFD_KRT14:c.1231G>T phenoCommon EBS-K
HIFD_KRT14:c.1237G>A commonName c.1237G>A
HIFD_KRT14:c.1237G>A protEffect p.Ala413Thr
HIFD_KRT14:c.1237G>A phenoCommon EBS-K
HIFD_KRT14:c.744delCinsAG commonName c.744delCinsAG
HIFD_KRT14:c.744delCinsAG protEffect p.Tyr248X
HIFD_KRT14:c.744delCinsAG phenoCommon REBS-K
HIFD_KRT14:c.442C>T commonName c.442C>T
HIFD_KRT14:c.442C>T protEffect p.Arg148Cys
HIFD_KRT14:c.442C>T phenoCommon EBS-WC
HIFD_KRT14:c.1247G>C commonName c.1247G>C
HIFD_KRT14:c.1247G>C protEffect p.Arg416Pro
HIFD_KRT14:c.1247G>C phenoCommon EBS-DM
HIFD_KRT14:c.383_385delCCT commonName c.383_385delCCT
HIFD_KRT14:c.383_385delCCT protEffect p.Ser128del
HIFD_KRT14:c.383_385delCCT phenoCommon EBS-DM
HIFD_KRT14:c.1222C>A commonName c.1222C>A
HIFD_KRT14:c.1222C>A protEffect p.Leu408Met
HIFD_KRT14:c.1222C>A phenoCommon EBS-WC
HIFD_KRT14:c.389T>C commonName c.389T>C
HIFD_KRT14:c.389T>C protEffect p.Leu130Pro
HIFD_KRT14:c.389T>C phenoCommon EBS-DM
HIFD_KRT14:c.927+1G>A commonName c.927+1G>A
HIFD_KRT14:c.927+1G>A protEffect p.?
HIFD_KRT14:c.927+1G>A phenoCommon EBS-K
HIFD_KRT14:c.1244A>G commonName c.1244A>G
HIFD_KRT14:c.1244A>G protEffect p.Tyr415Cys
HIFD_KRT14:c.1244A>G phenoCommon EBS-WC
HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] commonName c.[1163G>A; =]+[=; 1186C>T]
HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] protEffect p.[Arg388His; =]+[=; Gln396X]
HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] phenoCommon REBS-WC
HIFD_KRT14:c.915G>A phenoCommon EBS-K
HIFD_KRT14:c.1186C>T commonName c.1186C>T
HIFD_KRT14:c.1186C>T protEffect p.Gln396X
HIFD_KRT14:c.1186C>T phenoCommon EBS-K
HIFD_KRT14:c.242_243insG commonName c.242_243insG
HIFD_KRT14:c.242_243insG protEffect p.Gly81GlyfsX2
HIFD_KRT14:c.242_243insG phenoCommon EBS-DM
HIFD_KRT14:c.369T>A commonName c.369T>A
HIFD_KRT14:c.369T>A protEffect p.Asn123Lys
HIFD_KRT14:c.369T>A phenoCommon EBS-DM
HIFD_KRT14:c.373C>G commonName c.373C>G
HIFD_KRT14:c.373C>G protEffect p.Arg125Gly
HIFD_KRT14:c.373C>G phenoCommon EBS-DM
HIFD_KRT14:c.397G>T commonName c.397G>T
HIFD_KRT14:c.397G>T protEffect p.Val133Leu
HIFD_KRT14:c.397G>T phenoCommon EBS-WC
HIFD_KRT14:c.400C>T commonName c.400C>T
HIFD_KRT14:c.400C>T protEffect p.Arg134Cys
HIFD_KRT14:c.400C>T phenoCommon EBS-WC
HIFD_KRT14:c.397G>A commonName c.397G>A
HIFD_KRT14:c.397G>A protEffect p.Val133Met
HIFD_KRT14:c.397G>A phenoCommon EBS-WC
HIFD_KRT14:c.359A>C commonName c.359A>C
HIFD_KRT14:c.359A>C protEffect p.Gln120Pro
HIFD_KRT14:c.359A>C phenoCommon EBS-K
HIFD_KRT14:c.1246_1246delC commonName c.1246_1246delC
HIFD_KRT14:c.1246_1246delC protEffect p.Arg416AlafsX26
HIFD_KRT14:c.1246_1246delC phenoCommon EBS-DM
HIFD_KRT14:c.1163G>A commonName c.1163G>A
HIFD_KRT14:c.1163G>A protEffect p.Arg388His
HIFD_KRT14:c.1163G>A phenoCommon EBS-WC
HIFD_KRT14:c.1163G>C commonName c.1163G>C
HIFD_KRT14:c.1163G>C protEffect p.Arg388Pro
HIFD_KRT14:c.1163G>C phenoCommon EBS-WC
HIFD_KRT14:c.399G>T commonName c.399G>T
HIFD_KRT14:c.399G>T protEffect p.Val133Leu
HIFD_KRT14:c.399G>T phenoCommon EBS-K
HIFD_KRT14:c.632G>C commonName c.632G>C
HIFD_KRT14:c.632G>C protEffect p.Arg211Pro
HIFD_KRT14:c.632G>C phenoCommon EBS-WC
HIFD_KRT14:c.815T>C commonName c.815T>C
HIFD_KRT14:c.815T>C protEffect p.Met272Thr
HIFD_KRT14:c.815T>C phenoCommon EBS-K
HIFD_KRT14:c.1231_1233delGAG commonName c.1231_1233delGAG
HIFD_KRT14:c.1231_1233delGAG protEffect p.Glu411del
HIFD_KRT14:c.1231_1233delGAG phenoCommon EBS-WC
HIFD_KRT14:c.1250G>C commonName c.1250G>C
HIFD_KRT14:c.1250G>C protEffect p.Arg417Pro
HIFD_KRT14:c.1250G>C phenoCommon EBS-DM
HIFD_KRT14:c.364C>T phenoCommon EBS-DM
HIFD_KRT14:c.1218_1218delG commonName c.1218_1218delG
HIFD_KRT14:c.1218_1218delG protEffect p.Thr406GlyfsX35
HIFD_KRT14:c.1218_1218delG phenoCommon EBS-WC
HIFD_KRT14:c.1218_1218delG phenoCommon EBS-K
HIFD_KRT14:c.356T>C phenoCommon EBS-MP
HIFD_KRT14:c.427delC commonName c.427delC
HIFD_KRT14:c.427delC protEffect p.Leu143TrpfsX3
HIFD_KRT14:c.427delC phenoCommon EBS-K
HIFD_KRT14:c.129dupC commonName c.129dupC
HIFD_KRT14:c.129dupC protEffect p.Ser44GlnfsX39
HIFD_KRT14:c.129dupC phenoCommon EBS-K
HIFD_KRT14:c.355A>G phenoCommon EBS-WC
HIFD_KRT14:c.17delG commonName c.17delG
HIFD_KRT14:c.17delG protEffect p.Arg6ProfsX9
HIFD_KRT14:c.17delG phenoCommon NFJS
HIFD_KRT14:c.54C>A commonName c.54C>A
HIFD_KRT14:c.54C>A protEffect p.Cys18X
HIFD_KRT14:c.54C>A phenoCommon DPR
HIFD_KRT14:c.19C>T commonName c.19C>T
HIFD_KRT14:c.19C>T protEffect p.Gln7X
HIFD_KRT14:c.19C>T phenoCommon NFJS
HIFD_KRT14:c.374G>C commonName c.374G>C
HIFD_KRT14:c.374G>C protEffect p.Arg125Pro
HIFD_KRT14:c.374G>C phenoCommon EBS-DM
HIFD_KRT14:c.397G>C commonName c.397G>C
HIFD_KRT14:c.397G>C protEffect p.Val133Leu
HIFD_KRT14:c.397G>C phenoCommon EBS-K
HIFD_KRT14:c.346A>G commonName c.346A>G
HIFD_KRT14:c.346A>G protEffect p.Lys116Glu
HIFD_KRT14:c.346A>G phenoCommon EBS-K
HIFD_KRT14:c.386A>G commonName c.386A>G
HIFD_KRT14:c.386A>G protEffect p.Tyr129Cys
HIFD_KRT14:c.386A>G phenoCommon EBS-K
HIFD_KRT14:c.398T>C commonName c.398T>C
HIFD_KRT14:c.398T>C protEffect p.Val133Ala
HIFD_KRT14:c.398T>C phenoCommon EBS-K
HIFD_KRT14:c.1130T>C commonName c.1130T>C
HIFD_KRT14:c.1130T>C protEffect p.Ile377Thr
HIFD_KRT14:c.1130T>C phenoCommon EBS-WC
HIFD_KRT14:c.1252C>G commonName c.1252C>G
HIFD_KRT14:c.1252C>G protEffect p.Leu418Val
HIFD_KRT14:c.1252C>G phenoCommon EBS-K
HIFD_KRT14:c.927+1G>A phenoCommon EBS-WC
HIFD_KRT14:c.407T>A commonName c.407T>A
HIFD_KRT14:c.407T>A protEffect p.Leu136Gln
HIFD_KRT14:c.407T>A phenoCommon EBS-WC
HIFD_KRT14:c.1231G>A commonName c.1231G>A
HIFD_KRT14:c.1231G>A protEffect p.Glu411Lys
HIFD_KRT14:c.1231G>A phenoCommon EBS-DM
HIFD_KRT14:c.1235T>A commonName c.1235T>A
HIFD_KRT14:c.1235T>A protEffect p.Ile412Asn
HIFD_KRT14:c.1235T>A phenoCommon EBS-DM
HIFD_KRT14:c.373C>T phenoCommon DPR
HIFD_KRT14:c.1202T>C commonName c.1202T>C
HIFD_KRT14:c.1202T>C protEffect p.Leu401Pro
HIFD_KRT14:c.1202T>C phenoCommon EBS-WC
HIFD_KRT14:c.374G>T commonName c.374G>T
HIFD_KRT14:c.374G>T protEffect p.Arg125Leu
HIFD_KRT14:c.374G>T phenoCommon EBS-DM
HIFD_KRT14:c.428T>C phenoCommon EBS-K
HIFD_KRT14:c.1174G>T commonName c.1174G>T
HIFD_KRT14:c.1174G>T protEffect p.Glu392X
HIFD_KRT14:c.1174G>T phenoCommon EDMD3
HIFD_KRT14:c.382T>C commonName c.382T>C
HIFD_KRT14:c.382T>C protEffect p.Ser128Pro
HIFD_KRT14:c.382T>C phenoCommon EBS-DM
HIFD_KRT14:c.407T>C commonName c.407T>C
HIFD_KRT14:c.407T>C protEffect p.Leu136Pro
HIFD_KRT14:c.407T>C phenoCommon EBS-WC
HIFD_KRT14:c.419A>G commonName c.419A>G
HIFD_KRT14:c.419A>G protEffect p.Asn140Ser
HIFD_KRT14:c.419A>G phenoCommon EBS-K
HIFD_KRT14:c.803T>A commonName c.803T>A
HIFD_KRT14:c.803T>A protEffect p.Val268Asp
HIFD_KRT14:c.803T>A phenoCommon EBS-K
HIFD_KRT14:c.1141G>A commonName c.1141G>A
HIFD_KRT14:c.1141G>A protEffect p.Glu381Lys
HIFD_KRT14:c.1141G>A phenoCommon EBS-WC
HIFD_KRT14:c.1162C>G commonName c.1162C>G
HIFD_KRT14:c.1162C>G protEffect p.Arg388Gly
HIFD_KRT14:c.1162C>G phenoCommon EBS-K
HIFD_KRT14:c.1163G>C phenoCommon EBS-K
HIFD_KRT14:c.373C>T phenoCommon EBS-WC
HIFD_KRT14:c.397G>T phenoCommon EBS-K
HIFD_KRT14:c.808G>A phenoCommon EBS-K
HIFD_KRT14:c.815T>C phenoCommon EBS-WC
HIFD_KRT14:c.915G>A phenoCommon EBS-WC
HIFD_KRT14:c.1130T>A phenoCommon EBS-K
HIFD_KRT14:c.1228C>T commonName c.1228C>T
HIFD_KRT14:c.1228C>T protEffect p.Gln410X
HIFD_KRT14:c.1228C>T phenoCommon EBS-K
HIFD_KRT14:c.1228C>T phenoCommon EBS-WC
HIFD_KRT14:c.1117_1158dup42 commonName c.1117_1158dupATCCAGGAGATGATTGGCAGCGTGGAGGAGCAGCTGGCCCAG
HIFD_KRT14:c.1117_1158dup42 protEffect p.Ile373GlufsX53
HIFD_KRT14:c.1117_1158dup42 phenoCommon EBS-MP
HIFD_KRT14:c.1256_1274+163del182insA commonName c.1256_1274+163delTGGAGGGCGAGGACGCCCAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCCCCCCATGGCACTCTCACGGCCCCACCATGTATCTAATGATCCTGTCCTTTTCTATTTTCACAGCCTCTCCTCCTCCCAGTTCTCCTCTGGATCGCAGTCATCCAGAGATGGTAAGACCCTCCTCCTCTGCAGinsA
HIFD_KRT14:c.1256_1274+163del182insA protEffect p.Leu419HisfsX41
HIFD_KRT14:c.1256_1274+163del182insA phenoCommon EBS-WC
HIFD_KRT14:c.1231G>A phenoCommon EBS-K
HIFD_KRT14:c.382_384delTCC commonName c.382_384delTCC
HIFD_KRT14:c.382_384delTCC protEffect p.Ser128del
HIFD_KRT14:c.382_384delTCC phenoCommon EBS-DM
HIFD_KRT14:c.815T>G phenoCommon EBS-DM
HIFD_KRT14:c.740_748delCCTACCTGAinsGAA commonName c.740_748delCCTACCTGAinsGAA
HIFD_KRT14:c.740_748delCCTACCTGAinsGAA protEffect p.Ala247_Lys250delinsGlu
HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon EBS-WC
HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon REBS-WC
HIFD_KRT14:c.927+1G>T commonName c.927+1G>T
HIFD_KRT14:c.927+1G>T protEffect p.?
HIFD_KRT14:c.927+1G>T phenoCommon EBS-WC
HIFD_KRT14:c.1234A>T commonName c.1234A>T
HIFD_KRT14:c.1234A>T protEffect p.Ile412Phe
HIFD_KRT14:c.1234A>T phenoCommon EBS-WC
HIFD_KRT14:c.1240_1249delACCTACCGCC commonName c.1240_1249delACCTACCGCC
HIFD_KRT14:c.1240_1249delACCTACCGCC protEffect p.Thr414AlafsX25
HIFD_KRT14:c.1240_1249delACCTACCGCC phenoCommon REBS-K
HIFD_KRT14:c.955A>C commonName c.955A>C
HIFD_KRT14:c.955A>C protEffect p.Thr319Pro
HIFD_KRT14:c.955A>C phenoCommon EBS-WC
HIFD_KRT14:c.346A>T commonName c.346A>T
HIFD_KRT14:c.346A>T protEffect p.Lys116X
HIFD_KRT14:c.346A>T phenoCommon REBS
HIFD_KRT14:c.749delA commonName c.749delA
HIFD_KRT14:c.749delA protEffect p.Lys250ArgfsX8
HIFD_KRT14:c.749delA phenoCommon REBS
HIFD_KRT14:c.1237G>C commonName c.1237G>C
HIFD_KRT14:c.1237G>C protEffect p.Ala413Pro
HIFD_KRT14:c.1237G>C phenoCommon EBS-WC
HIFD_KRT16:c.395T>C commonName c.395T>C
HIFD_KRT16:c.395T>C protEffect p.Leu132Pro
HIFD_KRT16:c.395T>C phenoCommon PC-1
HIFD_KRT16:c.379C>T commonName c.379C>T
HIFD_KRT16:c.379C>T protEffect p.Arg127Cys
HIFD_KRT16:c.379C>T phenoCommon FNEPPK
HIFD_KRT16:c.374A>G commonName c.374A>G
HIFD_KRT16:c.374A>G protEffect p.Asn125Ser
HIFD_KRT16:c.374A>G phenoCommon FNEPPK
HIFD_KRT16:c.389_391delCCT commonName c.389_391delCCT
HIFD_KRT16:c.389_391delCCT protEffect p.Ser130del
HIFD_KRT16:c.389_391delCCT phenoCommon PC-1
HIFD_KRT16:c.380G>C commonName c.380G>C
HIFD_KRT16:c.380G>C protEffect p.Arg127Pro
HIFD_KRT16:c.380G>C phenoCommon PC-1
HIFD_KRT16:c.365A>C commonName c.365A>C
HIFD_KRT16:c.365A>C protEffect p.Gln122Pro
HIFD_KRT16:c.365A>C phenoCommon PC-1
HIFD_KRT16:c.[1244_1266del23]+[1270delG] commonName c.[1244_1266delCCACCTACCGCCGCCTGCTGGAG]+[1270delG]
HIFD_KRT16:c.[1244_1266del23]+[1270delG] protEffect p.[Ala415_Glu422del]+[Glu424Gln]
HIFD_KRT16:c.[1244_1266del23]+[1270delG] phenoCommon FNEPPK
HIFD_KRT16:c.371T>G commonName c.371T>G
HIFD_KRT16:c.371T>G protEffect p.Leu124Arg
HIFD_KRT16:c.371T>G phenoCommon PC-1
HIFD_KRT16:c.309_320del12 commonName c.309_320delTGGTGGTTTTGC
HIFD_KRT16:c.309_320del12 protEffect p.Gly104_Ala107del
HIFD_KRT16:c.309_320del12 phenoCommon EPPK
HIFD_KRT16:c.1062A>T commonName c.1062A>T
HIFD_KRT16:c.1062A>T protEffect p.Lys354Asn
HIFD_KRT16:c.1062A>T phenoCommon PC-1
HIFD_KRT16:c.362T>C commonName c.362T>C
HIFD_KRT16:c.362T>C protEffect p.Met121Thr
HIFD_KRT16:c.362T>C phenoCommon PC-1
HIFD_KRT16:c.383T>A commonName c.383T>A
HIFD_KRT16:c.383T>A protEffect p.Leu128Gln
HIFD_KRT16:c.383T>A phenoCommon PC-1
HIFD_KRT16:c.371T>C commonName c.371T>C
HIFD_KRT16:c.371T>C protEffect p.Leu124Pro
HIFD_KRT16:c.371T>C phenoCommon PC-1
HIFD_KRT16:c.371T>A commonName c.371T>A
HIFD_KRT16:c.371T>A protEffect p.Leu124His
HIFD_KRT16:c.371T>A phenoCommon PC-1
HIFD_KRT16:c.373A>G commonName c.373A>G
HIFD_KRT16:c.373A>G protEffect p.Asn125Asp
HIFD_KRT16:c.373A>G phenoCommon PC-1
HIFD_KRT16:c.374A>G phenoCommon PC-1
HIFD_KRT16:c.43A>T commonName c.43A>T
HIFD_KRT16:c.43A>T protEffect p.Lys15X
HIFD_KRT16:c.43A>T phenoCommon PC-1
HIFD_KRT16:c.362T>A commonName c.362T>A
HIFD_KRT16:c.362T>A protEffect p.Met121Lys
HIFD_KRT16:c.362T>A phenoCommon PC-1
HIFD_KRT16:c.379C>T phenoCommon PC-1
HIFD_KRT16:c.371_373delTCA commonName c.371_373delTCA
HIFD_KRT16:c.371_373delTCA protEffect p.Leu124_Asn125delinsHis
HIFD_KRT16:c.371_373delTCA phenoCommon PC-1
HIFD_KRT16:c.25delA commonName c.25delA
HIFD_KRT16:c.25delA protEffect p.Thr9ProfsX6
HIFD_KRT16:c.25delA phenoCommon FNEPPK
HIFD_KRT17:c.274A>G commonName c.274A>G
HIFD_KRT17:c.274A>G protEffect p.Asn92Asp
HIFD_KRT17:c.274A>G phenoCommon PC-2
HIFD_KRT17:c.275A>G commonName c.275A>G
HIFD_KRT17:c.275A>G protEffect p.Asn92Ser
HIFD_KRT17:c.275A>G phenoCommon PC-2
HIFD_KRT17:c.292T>G commonName c.292T>G
HIFD_KRT17:c.292T>G protEffect p.Tyr98Asp
HIFD_KRT17:c.292T>G phenoCommon PC-2
HIFD_KRT17:c.274A>C commonName c.274A>C
HIFD_KRT17:c.274A>C protEffect p.Asn92His
HIFD_KRT17:c.274A>C phenoCommon SM
HIFD_KRT17:c.281G>A commonName c.281G>A
HIFD_KRT17:c.281G>A protEffect p.Arg94His
HIFD_KRT17:c.281G>A phenoCommon SM
HIFD_KRT17:c.280C>T commonName c.280C>T
HIFD_KRT17:c.280C>T protEffect p.Arg94Cys
HIFD_KRT17:c.280C>T phenoCommon PC-2
HIFD_KRT17:c.263T>C commonName c.263T>C
HIFD_KRT17:c.263T>C protEffect p.Met88Thr
HIFD_KRT17:c.263T>C phenoCommon PC-2
HIFD_KRT17:c.280_294del15 commonName c.280_294delCGCCTGGCCTCCTAC
HIFD_KRT17:c.280_294del15 protEffect p.Arg94_Tyr98del
HIFD_KRT17:c.280_294del15 phenoCommon PC-2
HIFD_KRT17:c.281G>C commonName c.281G>C
HIFD_KRT17:c.281G>C protEffect p.Arg94Pro
HIFD_KRT17:c.281G>C phenoCommon PC-2
HIFD_KRT17:c.284T>A commonName c.284T>A
HIFD_KRT17:c.284T>A protEffect p.Leu95Gln
HIFD_KRT17:c.284T>A phenoCommon PC-2
HIFD_KRT17:c.304G>A commonName c.304G>A
HIFD_KRT17:c.304G>A protEffect p.Val102Met
HIFD_KRT17:c.304G>A phenoCommon PC-2
HIFD_KRT17:c.289_291delTCC commonName c.289_291delTCC
HIFD_KRT17:c.289_291delTCC protEffect p.Ser97del
HIFD_KRT17:c.289_291delTCC phenoCommon PC-2
HIFD_KRT17:c.284T>C commonName c.284T>C
HIFD_KRT17:c.284T>C protEffect p.Leu95Pro
HIFD_KRT17:c.284T>C phenoCommon PC-2
HIFD_KRT17:c.296T>C commonName c.296T>C
HIFD_KRT17:c.296T>C protEffect p.Leu99Pro
HIFD_KRT17:c.296T>C phenoCommon PC-2
HIFD_KRT17:c.281G>A phenoCommon PC-2
HIFD_KRT17:c.325A>G commonName c.325A>G
HIFD_KRT17:c.325A>G protEffect p.Asn109Asp
HIFD_KRT17:c.325A>G phenoCommon PC-2
HIFD_KRT17:c.1163T>C commonName c.1163T>C
HIFD_KRT17:c.1163T>C protEffect p.Leu388Pro
HIFD_KRT17:c.1163T>C phenoCommon PC-2
HIFD_KRT17:c.275A>G phenoCommon PC-1
HIFD_KRT17:c.263T>A commonName c.263T>A
HIFD_KRT17:c.263T>A protEffect p.Met88Lys
HIFD_KRT17:c.263T>A phenoCommon PC-2
HIFD_KRT17:c.275A>G phenoCommon SM
HIFD_KRT17:c.1112T>C commonName c.1112T>C
HIFD_KRT17:c.1112T>C protEffect p.Leu371Pro
HIFD_KRT17:c.1112T>C phenoCommon SM
HIFD_KRT17:c.274_297del24 commonName c.274_297delAATGACCGCCTGGCCTCCTACCTG
HIFD_KRT17:c.274_297del24 protEffect p.Asn92_Leu99del
HIFD_KRT17:c.274_297del24 phenoCommon PC-2
HIFD_KRT17:c.295_303delCTGGACAAG commonName c.295_303delCTGGACAAG
HIFD_KRT17:c.295_303delCTGGACAAG protEffect p.Leu99_Lys101del
HIFD_KRT17:c.295_303delCTGGACAAG phenoCommon PC-2
HIFD_KRT17:c.287_298del12 commonName c.287_298delCCTCCTACCTGG
HIFD_KRT17:c.287_298del12 protEffect p.Ala96_Leu99del
HIFD_KRT17:c.287_298del12 phenoCommon PC-2
HIFD_KRT18:c.383A>T commonName c.383A>T
HIFD_KRT18:c.383A>T protEffect p.His128Leu
HIFD_KRT18:c.307A>G commonName c.307A>G
HIFD_KRT18:c.307A>G protEffect p.Thr103Ala
HIFD_KRT18:c.782G>A commonName c.782G>A
HIFD_KRT18:c.782G>A protEffect p.Arg261Gln
HIFD_KRT18:c.782G>A phenoCommon PBC
HIFD_KRT18:c.1018G>A commonName c.1018G>A
HIFD_KRT18:c.1018G>A protEffect p.Gly340Arg
HIFD_KRT18:c.193_216del24 commonName c.193_216delACCGGGATAGCCGGGGGTCTGGCA
HIFD_KRT18:c.193_216del24 protEffect p.Thr65_Ala72del
HIFD_KRT18:c.448A>G commonName c.448A>G
HIFD_KRT18:c.448A>G protEffect p.Ile150Val
HIFD_KRT18:c.827A>G commonName c.827A>G
HIFD_KRT18:c.827A>G protEffect p.Glu276Gly
HIFD_KRT18:c.854A>G commonName c.854A>G
HIFD_KRT18:c.854A>G protEffect p.Gln285Arg
HIFD_KRT18:c.884C>T commonName c.884C>T
HIFD_KRT18:c.884C>T protEffect p.Thr295Met
HIFD_KRT18:c.890C>T commonName c.890C>T
HIFD_KRT18:c.890C>T protEffect p.Thr297Ile
HIFD_KRT18:c.1232G>A commonName c.1232G>A
HIFD_KRT18:c.1232G>A protEffect p.Arg411His
HIFD_KRT18:c.1232G>A phenoCommon PBC
HIFD_KRT19:c.49G>A commonName c.49G>A
HIFD_KRT19:c.49G>A protEffect p.Gly17Ser
HIFD_KRT19:c.49G>A phenoCommon PBC
HIFD_KRT9:c.481A>T commonName c.481A>T
HIFD_KRT9:c.481A>T protEffect p.Asn161Tyr
HIFD_KRT9:c.481A>T phenoCommon EPPK
HIFD_KRT9:c.483T>A commonName c.483T>A
HIFD_KRT9:c.483T>A protEffect p.Asn161Lys
HIFD_KRT9:c.483T>A phenoCommon EPPK
HIFD_KRT9:c.487C>T commonName c.487C>T
HIFD_KRT9:c.487C>T protEffect p.Arg163Trp
HIFD_KRT9:c.487C>T phenoCommon EPPK
HIFD_KRT9:c.488G>A commonName c.488G>A
HIFD_KRT9:c.488G>A protEffect p.Arg163Gln
HIFD_KRT9:c.488G>A phenoCommon EPPK
HIFD_KRT9:c.469A>G commonName c.469A>G
HIFD_KRT9:c.469A>G protEffect p.Met157Val
HIFD_KRT9:c.469A>G phenoCommon EPPK
HIFD_KRT9:c.515A>C commonName c.515A>C
HIFD_KRT9:c.515A>C protEffect p.Gln172Pro
HIFD_KRT9:c.515A>C phenoCommon EPPK
HIFD_KRT9:c.482A>G commonName c.482A>G
HIFD_KRT9:c.482A>G protEffect p.Asn161Ser
HIFD_KRT9:c.482A>G phenoCommon EPPK
HIFD_KRT9:c.503T>C commonName c.503T>C
HIFD_KRT9:c.503T>C protEffect p.Leu168Ser
HIFD_KRT9:c.503T>C phenoCommon EPPK
HIFD_KRT9:c.478C>G commonName c.478C>G
HIFD_KRT9:c.478C>G protEffect p.Leu160Val
HIFD_KRT9:c.478C>G phenoCommon EPPK
HIFD_KRT9:c.470T>C commonName c.470T>C
HIFD_KRT9:c.470T>C protEffect p.Met157Thr
HIFD_KRT9:c.470T>C phenoCommon EPPK
HIFD_KRT9:c.1362_1363insCAC commonName c.1362_1363insCAC
HIFD_KRT9:c.1362_1363insCAC protEffect p.Tyr454_His455insHis
HIFD_KRT9:c.1362_1363insCAC phenoCommon EPPK
HIFD_KRT9:c.508A>T commonName c.508A>T
HIFD_KRT9:c.508A>T protEffect p.Lys170X
HIFD_KRT9:c.508A>T phenoCommon EPPK
HIFD_KRT9:c.511G>A commonName c.511G>A
HIFD_KRT9:c.511G>A protEffect p.Val171Met
HIFD_KRT9:c.511G>A phenoCommon EPPK
HIFD_KRT9:c.482A>T commonName c.482A>T
HIFD_KRT9:c.482A>T protEffect p.Asn161Ile
HIFD_KRT9:c.482A>T phenoCommon EPPK
HIFD_KRT9:c.478C>T commonName c.478C>T
HIFD_KRT9:c.478C>T protEffect p.Leu160Phe
HIFD_KRT9:c.478C>T phenoCommon EPPK
HIFD_KRT9:c.481A>C commonName c.481A>C
HIFD_KRT9:c.481A>C protEffect p.Asn161His
HIFD_KRT9:c.481A>C phenoCommon EPPK
HIFD_KRT9:c.500_500delAinsGGCT commonName c.500_500delAinsGGCT
HIFD_KRT9:c.500_500delAinsGGCT protEffect p.Tyr167delinsTrpLeu
HIFD_KRT9:c.500_500delAinsGGCT phenoCommon EPPK
HIFD_KRT9:c.488G>C commonName c.488G>C
HIFD_KRT9:c.488G>C protEffect p.Arg163Pro
HIFD_KRT9:c.488G>C phenoCommon EPPK
HIFD_KRT9:c.500delAinsGGCT commonName c.500delAinsGGCT
HIFD_KRT9:c.500delAinsGGCT protEffect p.Tyr167delinsTrpLeu
HIFD_KRT9:c.500delAinsGGCT phenoCommon EPPK
HIFD_KRT9:c.470T>G commonName c.470T>G
HIFD_KRT9:c.470T>G protEffect p.Met157Arg
HIFD_KRT9:c.470T>G phenoCommon EPPK
HIFD_KRT9:c.1372C>T commonName c.1372C>T
HIFD_KRT9:c.1372C>T protEffect p.Leu458Phe
HIFD_KRT9:c.1372C>T phenoCommon EPPK
HIFD_KRT9:c.484C>T commonName c.484C>T
HIFD_KRT9:c.484C>T protEffect p.Pro162Ser
HIFD_KRT9:c.484C>T phenoCommon EPPK
HIFD_KRT9:c.470T>A commonName c.470T>A
HIFD_KRT9:c.470T>A protEffect p.Met157Lys
HIFD_KRT9:c.470T>A phenoCommon EPPK
HIFD_KRT9:c.1360T>C commonName c.1360T>C
HIFD_KRT9:c.1360T>C protEffect p.Tyr454His
HIFD_KRT9:c.1360T>C phenoCommon EPPK
HIFD_KRT9:c.1216T>C commonName c.1216T>C
HIFD_KRT9:c.1216T>C protEffect p.Cys406Arg
HIFD_KRT9:c.1216T>C phenoCommon EPPK
HIFD_KRT1:c.1468G>C commonName c.1468G>C
HIFD_KRT1:c.1468G>C protEffect p.Glu490Gln
HIFD_KRT1:c.1468G>C phenoCommon BCIE/EHK
HIFD_KRT1:c.482T>C commonName c.482T>C
HIFD_KRT1:c.482T>C protEffect p.Leu161Pro
HIFD_KRT1:c.482T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.563A>G commonName c.563A>G
HIFD_KRT1:c.563A>G protEffect p.Asn188Ser
HIFD_KRT1:c.563A>G phenoCommon BCIE/EHK
HIFD_KRT1:c.577T>C commonName c.577T>C
HIFD_KRT1:c.577T>C protEffect p.Ser193Pro
HIFD_KRT1:c.577T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.464T>G commonName c.464T>G
HIFD_KRT1:c.464T>G protEffect p.Val155Gly
HIFD_KRT1:c.464T>G phenoCommon BCIE/EHK
HIFD_KRT1:c.556T>C commonName c.556T>C
HIFD_KRT1:c.556T>C protEffect p.Ser186Pro
HIFD_KRT1:c.556T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.1445A>G commonName c.1445A>G
HIFD_KRT1:c.1445A>G protEffect p.Tyr482Cys
HIFD_KRT1:c.1445A>G phenoCommon BCIE/EHK
HIFD_KRT1:c.221A>T commonName c.221A>T
HIFD_KRT1:c.221A>T protEffect p.Lys74Ile
HIFD_KRT1:c.221A>T phenoCommon NEPPK
HIFD_KRT1:c.536G>C commonName c.536G>C
HIFD_KRT1:c.536G>C protEffect p.Arg179Pro
HIFD_KRT1:c.536G>C phenoCommon BCIE/EHK
HIFD_KRT1:c.1019A>T commonName c.1019A>T
HIFD_KRT1:c.1019A>T protEffect p.Asp340Val
HIFD_KRT1:c.1019A>T phenoCommon BCIE/EHK
HIFD_KRT1:c.1436T>C commonName c.1436T>C
HIFD_KRT1:c.1436T>C protEffect p.Ile479Thr
HIFD_KRT1:c.1436T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.1435A>T commonName c.1435A>T
HIFD_KRT1:c.1435A>T protEffect p.Ile479Phe
HIFD_KRT1:c.1435A>T phenoCommon BCIE/EHK
HIFD_KRT1:c.1434G>T commonName c.1434G>T
HIFD_KRT1:c.1434G>T protEffect p.Glu478Asp
HIFD_KRT1:c.1434G>T phenoCommon BCIE/EHK
HIFD_KRT1:c.563A>C commonName c.563A>C
HIFD_KRT1:c.563A>C protEffect p.Asn188Thr
HIFD_KRT1:c.563A>C phenoCommon BCIE/EHK
HIFD_KRT1:c.641T>C commonName c.641T>C
HIFD_KRT1:c.641T>C protEffect p.Leu214Pro
HIFD_KRT1:c.641T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.1609_1610delGGinsA commonName c.1609_1610delGGinsA
HIFD_KRT1:c.1609_1610delGGinsA protEffect p.Gly537IlefsX77
HIFD_KRT1:c.1609_1610delGGinsA phenoCommon IHCM
HIFD_KRT1:c.1254+1G>A commonName c.1254+1G>A
HIFD_KRT1:c.1254+1G>A protEffect p.Gln418_Ile419ins18
HIFD_KRT1:c.1254+1G>A phenoCommon EPPK
HIFD_KRT1:c.464T>A commonName c.464T>A
HIFD_KRT1:c.464T>A protEffect p.Val155Asp
HIFD_KRT1:c.464T>A phenoCommon BCIE/EHK
HIFD_KRT1:c.531G>T commonName c.531G>T
HIFD_KRT1:c.531G>T protEffect p.Lys177Asn
HIFD_KRT1:c.531G>T phenoCommon BCIE/EHK
HIFD_KRT1:c.573T>G commonName c.573T>G
HIFD_KRT1:c.573T>G protEffect p.Phe191Leu
HIFD_KRT1:c.573T>G phenoCommon BCIE/EHK
HIFD_KRT1:c.591+1G>C commonName c.591+1G>C
HIFD_KRT1:c.591+1G>C protEffect p.?
HIFD_KRT1:c.591+1G>C phenoCommon BCIE/EHK
HIFD_KRT1:c.591+1G>A commonName c.591+1G>A
HIFD_KRT1:c.591+1G>A protEffect p.?
HIFD_KRT1:c.591+1G>A phenoCommon BCIE/EHK
HIFD_KRT1:c.502_513del12 commonName c.502_513delGAGATTGACCCT
HIFD_KRT1:c.502_513del12 protEffect p.Glu168_Pro171del
HIFD_KRT1:c.502_513del12 phenoCommon BCIE/EHK
HIFD_KRT1:c.1628delG commonName c.1628delG
HIFD_KRT1:c.1628delG protEffect p.Gly543ValfsX70
HIFD_KRT1:c.1628delG phenoCommon SPPK
HIFD_KRT1:c.1432G>A commonName c.1432G>A
HIFD_KRT1:c.1432G>A protEffect p.Glu478Lys
HIFD_KRT1:c.1432G>A phenoCommon BCIE/EHK
HIFD_KRT1:c.591+2T>A commonName c.591+2T>A
HIFD_KRT1:c.591+2T>A protEffect p.Val176_Lys197del
HIFD_KRT1:c.591+2T>A phenoCommon PPK
HIFD_KRT1:c.1376_1399del24 commonName c.1376_1399delCCCGCCTGCTGCGCGACTACCAGG
HIFD_KRT1:c.1376_1399del24 protEffect p.Ala459_Gln466del
HIFD_KRT1:c.1376_1399del24 phenoCommon PPK
HIFD_KRT1:c.564C>A commonName c.564C>A
HIFD_KRT1:c.564C>A protEffect p.Asn188Lys
HIFD_KRT1:c.564C>A phenoCommon BCIE/EHK
HIFD_KRT1:c.1457T>C commonName c.1457T>C
HIFD_KRT1:c.1457T>C protEffect p.Leu486Pro
HIFD_KRT1:c.1457T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.1751_1752insG commonName c.1751_1752insG
HIFD_KRT1:c.1751_1752insG protEffect p.Tyr587LeufsX67
HIFD_KRT1:c.1751_1752insG phenoCommon BCIE/EHK
HIFD_KRT1:c.572T>G commonName c.572T>G
HIFD_KRT1:c.572T>G protEffect p.Phe191Cys
HIFD_KRT1:c.572T>G phenoCommon BCIE/EHK
HIFD_KRT1:c.508_519del12 commonName c.508_519delGACCCTGAGATC
HIFD_KRT1:c.508_519del12 protEffect p.Asp170_Ile173del
HIFD_KRT1:c.508_519del12 phenoCommon BCIE/EHK
HIFD_KRT1:c.1436T>C phenoCommon EPPK
HIFD_KRT1:c.591+3_591+6delGAGT commonName c.591+3_591+6delGAGT
HIFD_KRT1:c.591+3_591+6delGAGT protEffect p.Val176_Lys197del
HIFD_KRT1:c.591+3_591+6delGAGT phenoCommon BCIE/EHK
HIFD_KRT1:c.1441A>C commonName c.1441A>C
HIFD_KRT1:c.1441A>C protEffect p.Thr481Pro
HIFD_KRT1:c.1441A>C phenoCommon BCIE/EHK
HIFD_KRT1:c.563A>G phenoCommon GS
HIFD_KRT1:c.559C>T commonName c.559C>T
HIFD_KRT1:c.559C>T protEffect p.Leu187Phe
HIFD_KRT1:c.559C>T phenoCommon BCIE/EHK
HIFD_KRT1:c.1556_1556delG commonName c.1556_1556delG
HIFD_KRT1:c.1556_1556delG protEffect p.Gly519GlufsX94
HIFD_KRT1:c.1556_1556delG phenoCommon IHCM
HIFD_KRT1:c.698C>T commonName c.698C>T
HIFD_KRT1:c.698C>T protEffect p.Ser233Leu
HIFD_KRT1:c.698C>T phenoCommon EPPK
HIFD_KRT1:c.1469A>G commonName c.1469A>G
HIFD_KRT1:c.1469A>G protEffect p.Glu490Gly
HIFD_KRT1:c.1469A>G phenoCommon BCIE/EHK
HIFD_KRT1:c.623T>C commonName c.623T>C
HIFD_KRT1:c.623T>C protEffect p.Leu208Pro
HIFD_KRT1:c.623T>C phenoCommon BCIE/EHK
HIFD_KRT1:c.571T>A commonName c.571T>A
HIFD_KRT1:c.571T>A protEffect p.Phe191Ile
HIFD_KRT1:c.571T>A phenoCommon BCIE/EHK
HIFD_KRT1:c.1465G>A commonName c.1465G>A
HIFD_KRT1:c.1465G>A protEffect p.Glu489Lys
HIFD_KRT1:c.1465G>A phenoCommon BCIE/EHK
HIFD_KRT1:c.591+2T>A phenoCommon BCIE/EHK
HIFD_KRT1:c.1019A>G commonName c.1019A>G
HIFD_KRT1:c.1019A>G protEffect p.Asp340Gly
HIFD_KRT1:c.1019A>G phenoCommon BCIE/EHK
HIFD_KRT1:c.1310T>C commonName c.1310T>C
HIFD_KRT1:c.1310T>C protEffect p.Leu437Pro
HIFD_KRT1:c.1310T>C phenoCommon NEPPK
HIFD_KRT1:c.698C>T phenoCommon NEPPK
HIFD_KRT1:c.693T>G commonName c.693T>G
HIFD_KRT1:c.693T>G protEffect p.Phe231Leu
HIFD_KRT1:c.693T>G phenoCommon NEPPK
HIFD_KRT1:c.1457T>G commonName c.1457T>G
HIFD_KRT1:c.1457T>G protEffect p.Leu486Arg
HIFD_KRT1:c.1457T>G phenoCommon BCIE/EHK
HIFD_KRT1:c.563A>G phenoCommon CIEH
HIFD_KRT1:c.564C>A phenoCommon ADLD
HIFD_KRT1:c.1432G>C commonName c.1432G>C
HIFD_KRT1:c.1432G>C protEffect p.Glu478Gln
HIFD_KRT1:c.1432G>C phenoCommon CIEH
HIFD_KRT1:c.1436T>C phenoCommon CIEH
HIFD_KRT1:c.1454T>C commonName c.1454T>C
HIFD_KRT1:c.1454T>C protEffect p.Leu485Pro
HIFD_KRT1:c.1454T>C phenoCommon CIEH
HIFD_KRT1:c.1457T>C phenoCommon CIEH
HIFD_KRT1:c.1468G>A commonName c.1468G>A
HIFD_KRT1:c.1468G>A protEffect p.Glu490Lys
HIFD_KRT1:c.1468G>A phenoCommon CIEH
HIFD_KRT1:c.1861_1861insT commonName c.1861_1861insT
HIFD_KRT1:c.1861_1861insT protEffect p.Gly621ValfsX32
HIFD_KRT1:c.1861_1861insT phenoCommon IHCM
HIFD_KRT2:c.1459G>A commonName c.1459G>A
HIFD_KRT2:c.1459G>A protEffect p.Glu487Lys
HIFD_KRT2:c.1459G>A phenoCommon IBS
HIFD_KRT2:c.1461G>T commonName c.1461G>T
HIFD_KRT2:c.1461G>T protEffect p.Glu487Asp
HIFD_KRT2:c.1461G>T phenoCommon IBS
HIFD_KRT2:c.542A>T commonName c.542A>T
HIFD_KRT2:c.542A>T protEffect p.Gln181Pro
HIFD_KRT2:c.542A>T phenoCommon IBS
HIFD_KRT2:c.1451T>C commonName c.1451T>C
HIFD_KRT2:c.1451T>C protEffect p.Leu484Pro
HIFD_KRT2:c.1451T>C phenoCommon IBS
HIFD_KRT2:c.1462G>A commonName c.1462G>A
HIFD_KRT2:c.1462G>A protEffect p.Glu488Lys
HIFD_KRT2:c.1462G>A phenoCommon IBS
HIFD_KRT2:c.1435A>C commonName c.1435A>C
HIFD_KRT2:c.1435A>C protEffect p.Thr479Pro
HIFD_KRT2:c.1435A>C phenoCommon IBS
HIFD_KRT2:c.1426G>A commonName c.1426G>A
HIFD_KRT2:c.1426G>A protEffect p.Glu476Lys
HIFD_KRT2:c.1426G>A phenoCommon IBS
HIFD_KRT2:c.556A>T commonName c.556A>T
HIFD_KRT2:c.556A>T protEffect p.Asn186Tyr
HIFD_KRT2:c.556A>T phenoCommon IBS
HIFD_KRT2:c.545T>A commonName c.545T>A
HIFD_KRT2:c.545T>A protEffect p.Ile182Asn
HIFD_KRT2:c.545T>A phenoCommon IBS
HIFD_KRT2:c.1427A>T commonName c.1427A>T
HIFD_KRT2:c.1427A>T protEffect p.Glu476Val
HIFD_KRT2:c.1427A>T phenoCommon IBS
HIFD_KRT2:c.607A>G commonName c.607A>G
HIFD_KRT2:c.607A>G protEffect p.Asn192Asp
HIFD_KRT2:c.607A>G phenoCommon IBS
HIFD_KRT2:c.1448T>A commonName c.1448T>A
HIFD_KRT2:c.1448T>A protEffect p.Leu483Gln
HIFD_KRT2:c.1448T>A phenoCommon IBS
HIFD_KRT2:c.558C>A commonName c.558C>A
HIFD_KRT2:c.558C>A protEffect p.Asn186Lys
HIFD_KRT2:c.558C>A phenoCommon IBS
HIFD_KRT2:c.532G>A commonName c.532G>A
HIFD_KRT2:c.532G>A protEffect p.Glu178Lys
HIFD_KRT2:c.532G>A phenoCommon IBS
HIFD_KRT3:c.1525G>A commonName c.1525G>A
HIFD_KRT3:c.1525G>A protEffect p.Glu509Lys
HIFD_KRT3:c.1525G>A phenoCommon MCD
HIFD_KRT3:c.1508G>C commonName c.1508G>C
HIFD_KRT3:c.1508G>C protEffect p.Arg503Pro
HIFD_KRT3:c.1508G>C phenoCommon MCD
HIFD_KRT3:c.1493A>T commonName c.1493A>T
HIFD_KRT3:c.1493A>T protEffect p.Glu498Val
HIFD_KRT3:c.1493A>T phenoCommon MCD
HIFD_KRT4:c.657_659delCAA commonName c.657_659delCAA
HIFD_KRT4:c.657_659delCAA protEffect p.Asn220del
HIFD_KRT4:c.657_659delCAA phenoCommon WSN
HIFD_KRT4:c.638_639insACA commonName c.638_639insACA
HIFD_KRT4:c.638_639insACA protEffect p.Glu213_Gln214insGln
HIFD_KRT4:c.638_639insACA phenoCommon WSN
HIFD_KRT4:c.1525G>A commonName c.1525G>A
HIFD_KRT4:c.1525G>A protEffect p.Glu509Lys
HIFD_KRT4:c.1525G>A phenoCommon WSN
HIFD_KRT4:c.*269A>G commonName c.*269A>G
HIFD_KRT4:c.*269A>G protEffect p.=
HIFD_KRT4:c.*269A>G phenoCommon WSN
HIFD_KRT4:c.1558G>A commonName c.1558G>A
HIFD_KRT4:c.1558G>A protEffect p.Glu520Lys
HIFD_KRT4:c.1558G>A phenoCommon WSN
HIFD_KRT5:c.1424A>G commonName c.1424A>G
HIFD_KRT5:c.1424A>G protEffect p.Glu475Gly
HIFD_KRT5:c.1424A>G phenoCommon EBS-DM
HIFD_KRT5:c.991C>T commonName c.991C>T
HIFD_KRT5:c.991C>T protEffect p.Arg331Cys
HIFD_KRT5:c.991C>T phenoCommon EBS-WC
HIFD_KRT5:c.980T>C commonName c.980T>C
HIFD_KRT5:c.980T>C protEffect p.Met327Thr
HIFD_KRT5:c.980T>C phenoCommon EBS-WC
HIFD_KRT5:c.987C>A commonName c.987C>A
HIFD_KRT5:c.987C>A protEffect p.Asn329Lys
HIFD_KRT5:c.987C>A phenoCommon EBS-WC
HIFD_KRT5:c.519G>C commonName c.519G>C
HIFD_KRT5:c.519G>C protEffect p.Lys173Asn
HIFD_KRT5:c.519G>C phenoCommon EBS-K
HIFD_KRT5:c.482T>G commonName c.482T>G
HIFD_KRT5:c.482T>G protEffect p.Ile161Ser
HIFD_KRT5:c.482T>G phenoCommon EBS-WC
HIFD_KRT5:c.1388T>C commonName c.1388T>C
HIFD_KRT5:c.1388T>C protEffect p.Leu463Pro
HIFD_KRT5:c.1388T>C phenoCommon EBS-K
HIFD_KRT5:c.983A>T commonName c.983A>T
HIFD_KRT5:c.983A>T protEffect p.Asp328Val
HIFD_KRT5:c.983A>T phenoCommon EBS-WC
HIFD_KRT5:c.523C>T commonName c.523C>T
HIFD_KRT5:c.523C>T protEffect p.Leu175Phe
HIFD_KRT5:c.523C>T phenoCommon EBS-DM
HIFD_KRT5:c.74C>T commonName c.74C>T
HIFD_KRT5:c.74C>T protEffect p.Pro25Leu
HIFD_KRT5:c.74C>T phenoCommon EBS-MP
HIFD_KRT5:c.579C>G commonName c.579C>G
HIFD_KRT5:c.579C>G protEffect p.Asn193Lys
HIFD_KRT5:c.579C>G phenoCommon EBS-WC
HIFD_KRT5:c.1429G>A commonName c.1429G>A
HIFD_KRT5:c.1429G>A protEffect p.Glu477Lys
HIFD_KRT5:c.1429G>A phenoCommon EBS-DM
HIFD_KRT5:c.536T>C commonName c.536T>C
HIFD_KRT5:c.536T>C protEffect p.Phe179Ser
HIFD_KRT5:c.536T>C phenoCommon EBS-DM
HIFD_KRT5:c.527A>G commonName c.527A>G
HIFD_KRT5:c.527A>G protEffect p.Asn176Ser
HIFD_KRT5:c.527A>G phenoCommon EBS-DM
HIFD_KRT5:c.1400T>C commonName c.1400T>C
HIFD_KRT5:c.1400T>C protEffect p.Ile467Thr
HIFD_KRT5:c.1400T>C phenoCommon EBS-DM
HIFD_KRT5:c.968T>C commonName c.968T>C
HIFD_KRT5:c.968T>C protEffect p.Val323Ala
HIFD_KRT5:c.968T>C phenoCommon EBS-K
HIFD_KRT5:c.980T>A commonName c.980T>A
HIFD_KRT5:c.980T>A protEffect p.Met327Lys
HIFD_KRT5:c.980T>A phenoCommon EBS-WC
HIFD_KRT5:c.455C>T commonName c.455C>T
HIFD_KRT5:c.455C>T protEffect p.Pro152Leu
HIFD_KRT5:c.455C>T phenoCommon EBS-WC
HIFD_KRT5:c.982G>C commonName c.982G>C
HIFD_KRT5:c.982G>C protEffect p.Asp328His
HIFD_KRT5:c.982G>C phenoCommon EBS-WC
HIFD_KRT5:c.974T>C commonName c.974T>C
HIFD_KRT5:c.974T>C protEffect p.Leu325Pro
HIFD_KRT5:c.974T>C phenoCommon EBS-DM
HIFD_KRT5:c.490_555del66 commonName c.490_555delGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTGCCTCCTTCATCGACAAG
HIFD_KRT5:c.490_555del66 protEffect p.Val164_Lys185del
HIFD_KRT5:c.490_555del66 phenoCommon EBS-DM
HIFD_KRT5:c.1429G>T commonName c.1429G>T
HIFD_KRT5:c.1429G>T protEffect p.Glu477X
HIFD_KRT5:c.1429G>T phenoCommon EBS-DM
HIFD_KRT5:c.541T>C commonName c.541T>C
HIFD_KRT5:c.541T>C protEffect p.Ser181Pro
HIFD_KRT5:c.541T>C phenoCommon EBS-DM
HIFD_KRT5:c.984C>A commonName c.984C>A
HIFD_KRT5:c.984C>A protEffect p.Asp328Glu
HIFD_KRT5:c.984C>A phenoCommon EBS-WC
HIFD_KRT5:c.556G>T commonName c.556G>T
HIFD_KRT5:c.556G>T protEffect p.Val186Leu
HIFD_KRT5:c.556G>T phenoCommon EBS-K
HIFD_KRT5:c.1414A>T commonName c.1414A>T
HIFD_KRT5:c.1414A>T protEffect p.Lys472X
HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] commonName c.[508G>C; =]+[=; 1252G>A]
HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] protEffect p.[Glu170Lys; =]+[=; Glu418Lys]
HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] phenoCommon REBS-K
HIFD_KRT5:c.1635_1635delG commonName c.1635_1635delG
HIFD_KRT5:c.1635_1635delG protEffect p.Leu546SerfsX82
HIFD_KRT5:c.1635_1635delG phenoCommon EBS-WC
HIFD_KRT5:c.1210A>G commonName c.1210A>G
HIFD_KRT5:c.1210A>G protEffect p.Lys404Glu
HIFD_KRT5:c.1210A>G phenoCommon EBS-WC
HIFD_KRT5:c.1313C>A commonName c.1313C>A
HIFD_KRT5:c.1313C>A protEffect p.Ala438Asp
HIFD_KRT5:c.1313C>A phenoCommon EBS-WC
HIFD_KRT5:c.1423G>A commonName c.1423G>A
HIFD_KRT5:c.1423G>A protEffect p.Glu475Lys
HIFD_KRT5:c.1423G>A phenoCommon EBS-DM
HIFD_KRT5:c.556-1G>C commonName c.556-1G>C
HIFD_KRT5:c.556-1G>C protEffect p.Val186_Gln189del
HIFD_KRT5:c.556-1G>C phenoCommon EBS-K
HIFD_KRT5:c.932T>G commonName c.932T>G
HIFD_KRT5:c.932T>G protEffect p.Leu311Arg
HIFD_KRT5:c.932T>G phenoCommon EBS-WC
HIFD_KRT5:c.499G>A commonName c.499G>A
HIFD_KRT5:c.499G>A protEffect p.Glu167Lys
HIFD_KRT5:c.499G>A phenoCommon EBS-WC
HIFD_KRT5:c.971T>A commonName c.971T>A
HIFD_KRT5:c.971T>A protEffect p.Val324Asp
HIFD_KRT5:c.971T>A phenoCommon EBS-WC
HIFD_KRT5:c.547A>T commonName c.547A>T
HIFD_KRT5:c.547A>T protEffect p.Ile183Phe
HIFD_KRT5:c.547A>T phenoCommon EBS-DM
HIFD_KRT5:c.1649_1649delG commonName c.1649_1649delG
HIFD_KRT5:c.1649_1649delG protEffect p.Gly550AlafsX77
HIFD_KRT5:c.1649_1649delG phenoCommon EBS-MCE
HIFD_KRT5:c.596A>C commonName c.596A>C
HIFD_KRT5:c.596A>C protEffect p.Lys199Thr
HIFD_KRT5:c.596A>C phenoCommon EBS-WC
HIFD_KRT5:c.530A>G commonName c.530A>G
HIFD_KRT5:c.530A>G protEffect p.Asn177Ser
HIFD_KRT5:c.530A>G phenoCommon EBS-WC
HIFD_KRT5:c.983A>G commonName c.983A>G
HIFD_KRT5:c.983A>G protEffect p.Asp328Gly
HIFD_KRT5:c.983A>G phenoCommon EBS-WC
HIFD_KRT5:c.539C>A commonName c.539C>A
HIFD_KRT5:c.539C>A protEffect p.Ala180Asp
HIFD_KRT5:c.539C>A phenoCommon EBS-DM
HIFD_KRT5:c.1430A>G commonName c.1430A>G
HIFD_KRT5:c.1430A>G protEffect p.Glu477Gly
HIFD_KRT5:c.1430A>G phenoCommon EBS-WC
HIFD_KRT5:c.974T>C phenoCommon EBS-WC
HIFD_KRT5:c.1285_1299del15 commonName c.1285_1299delAGGAACAAGCTGGCC
HIFD_KRT5:c.1285_1299del15 protEffect p.Arg429_Ala433del
HIFD_KRT5:c.1285_1299del15 phenoCommon EBS-DM
HIFD_KRT5:c.1649delG commonName c.1649delG
HIFD_KRT5:c.1649delG protEffect p.Gly550AlafsX77
HIFD_KRT5:c.1649delG phenoCommon EBS-MP
HIFD_KRT5:c.547_549delATC commonName c.547_549delATC
HIFD_KRT5:c.547_549delATC protEffect p.Ile183del
HIFD_KRT5:c.547_549delATC phenoCommon EBS-DM
HIFD_KRT5:c.1401C>G commonName c.1401C>G
HIFD_KRT5:c.1401C>G protEffect p.Ile467Met
HIFD_KRT5:c.1401C>G phenoCommon EBS-K
HIFD_KRT5:c.14C>A commonName c.14C>A
HIFD_KRT5:c.14C>A protEffect p.Ser5X
HIFD_KRT5:c.14C>A phenoCommon DDD
HIFD_KRT5:c.418dupA commonName c.418dupA
HIFD_KRT5:c.418dupA protEffect p.Ile140AsnfsX39
HIFD_KRT5:c.418dupA phenoCommon DDD
HIFD_KRT5:c.1427G>C commonName c.1427G>C
HIFD_KRT5:c.1427G>C protEffect p.Gly476Asp
HIFD_KRT5:c.1427G>C phenoCommon EBS-WC
HIFD_KRT5:c.596A>G commonName c.596A>G
HIFD_KRT5:c.596A>G protEffect p.Lys199Arg
HIFD_KRT5:c.596A>G phenoCommon EBS-WC
HIFD_KRT5:c.502G>A commonName c.502G>A
HIFD_KRT5:c.502G>A protEffect p.Glu168Lys
HIFD_KRT5:c.502G>A phenoCommon EBS-DM
HIFD_KRT5:c.506G>C commonName c.506G>C
HIFD_KRT5:c.506G>C protEffect p.Arg169Pro
HIFD_KRT5:c.506G>C phenoCommon EBS-DM
HIFD_KRT5:c.568G>A commonName c.568G>A
HIFD_KRT5:c.568G>A protEffect p.Glu190Lys
HIFD_KRT5:c.568G>A phenoCommon EBS-WC
HIFD_KRT5:c.992G>A commonName c.992G>A
HIFD_KRT5:c.992G>A protEffect p.Arg331His
HIFD_KRT5:c.992G>A phenoCommon EBS-WC
HIFD_KRT5:c.1405A>C commonName c.1405A>C
HIFD_KRT5:c.1405A>C protEffect p.Thr469Pro
HIFD_KRT5:c.1405A>C phenoCommon EBS-DM
HIFD_KRT5:c.508G>A commonName c.508G>A
HIFD_KRT5:c.508G>A protEffect p.Glu170Lys
HIFD_KRT5:c.508G>A phenoCommon EBS-WC
HIFD_KRT5:c.442_443delAG commonName c.442_443delAG
HIFD_KRT5:c.442_443delAG protEffect p.Leu149ProfsX29
HIFD_KRT5:c.442_443delAG phenoCommon DDD
HIFD_KRT5:c.473A>T commonName c.473A>T
HIFD_KRT5:c.473A>T protEffect p.Asp158Val
HIFD_KRT5:c.473A>T phenoCommon EBS-WC
HIFD_KRT5:c.428T>A commonName c.428T>A
HIFD_KRT5:c.428T>A protEffect p.Val143Asp
HIFD_KRT5:c.428T>A phenoCommon EBS-K
HIFD_KRT5:c.572A>C commonName c.572A>C
HIFD_KRT5:c.572A>C protEffect p.Gln191Pro
HIFD_KRT5:c.572A>C phenoCommon EBS-K
HIFD_KRT5:c.556G>A commonName c.556G>A
HIFD_KRT5:c.556G>A protEffect p.Val186Met
HIFD_KRT5:c.556G>A phenoCommon EBS-K
HIFD_KRT5:c.1550G>A commonName c.1550G>A
HIFD_KRT5:c.1550G>A protEffect p.Gly517Asp
HIFD_KRT5:c.1550G>A phenoCommon EBS-K
HIFD_KRT5:c.1054C>A commonName c.1054C>A
HIFD_KRT5:c.1054C>A protEffect p.Arg352Ser
HIFD_KRT5:c.1054C>A phenoCommon EBS-WC
HIFD_KRT5:c.473A>T phenoCommon EBS-K
HIFD_KRT5:c.579C>T commonName c.579C>T
HIFD_KRT5:c.579C>T protEffect p.Asn193Lys
HIFD_KRT5:c.579C>T phenoCommon EBS-K
HIFD_KRT5:c.509A>G commonName c.509A>G
HIFD_KRT5:c.509A>G protEffect p.Glu170Gly
HIFD_KRT5:c.509A>G phenoCommon EBS-K
HIFD_KRT5:c.986A>G commonName c.986A>G
HIFD_KRT5:c.986A>G protEffect p.Asn329Ser
HIFD_KRT5:c.986A>G phenoCommon EBS-WC
HIFD_KRT5:c.1283C>T commonName c.1283C>T
HIFD_KRT5:c.1283C>T protEffect p.Ala428Val
HIFD_KRT5:c.1283C>T phenoCommon EBS-K
HIFD_KRT5:c.1399A>C commonName c.1399A>C
HIFD_KRT5:c.1399A>C protEffect p.Ile467Leu
HIFD_KRT5:c.1399A>C phenoCommon EBS-WC
HIFD_KRT5:c.449T>C commonName c.449T>C
HIFD_KRT5:c.449T>C protEffect p.Leu150Pro
HIFD_KRT5:c.449T>C phenoCommon EBS-K
HIFD_KRT5:c.1398G>C commonName c.1398G>C
HIFD_KRT5:c.1398G>C protEffect p.Glu466Asp
HIFD_KRT5:c.1398G>C phenoCommon EBS-K
HIFD_KRT5:c.593C>G commonName c.593C>G
HIFD_KRT5:c.593C>G protEffect p.Thr198Ser
HIFD_KRT5:c.593C>G phenoCommon EBS-WC
HIFD_KRT5:c.489G>T commonName c.489G>T
HIFD_KRT5:c.489G>T protEffect p.Arg165Ser
HIFD_KRT5:c.489G>T phenoCommon EBS-DM
HIFD_KRT5:c.547A>G commonName c.547A>G
HIFD_KRT5:c.547A>G protEffect p.Ile183Val
HIFD_KRT5:c.547A>G phenoCommon EBS-WC
HIFD_KRT5:c.570G>C commonName c.570G>C
HIFD_KRT5:c.570G>C protEffect p.Glu190Asp
HIFD_KRT5:c.570G>C phenoCommon EBS-WC
HIFD_KRT5:c.991C>G commonName c.991C>G
HIFD_KRT5:c.991C>G protEffect p.Arg331Gly
HIFD_KRT5:c.991C>G phenoCommon EBS-WC
HIFD_KRT5:c.971T>C commonName c.971T>C
HIFD_KRT5:c.971T>C protEffect p.Val324Ala
HIFD_KRT5:c.971T>C phenoCommon EBS-WC
HIFD_KRT5:c.1432G>A commonName c.1432G>A
HIFD_KRT5:c.1432G>A protEffect p.Glu478Lys
HIFD_KRT5:c.1432G>A phenoCommon EBS-DM
HIFD_KRT5:c.596A>T commonName c.596A>T
HIFD_KRT5:c.596A>T protEffect p.Lys199Met
HIFD_KRT5:c.596A>T phenoCommon EBS-WC
HIFD_KRT5:c.427G>T commonName c.427G>T
HIFD_KRT5:c.427G>T protEffect p.Val143Phe
HIFD_KRT5:c.427G>T phenoCommon EBS-K
HIFD_KRT5:c.794G>C commonName c.794G>C
HIFD_KRT5:c.794G>C protEffect p.Arg265Pro
HIFD_KRT5:c.794G>C phenoCommon EBS-K
HIFD_KRT5:c.1437delC commonName c.1437delC
HIFD_KRT5:c.1437delC protEffect p.Cys479X
HIFD_KRT5:c.1437delC phenoCommon EBS-DM
HIFD_KRT5:c.531_533delTAA commonName c.531_533delTAA
HIFD_KRT5:c.531_533delTAA protEffect p.Asn177del
HIFD_KRT5:c.531_533delTAA phenoCommon EBS-DM
HIFD_KRT5:c.1730T>A commonName c.1730T>A
HIFD_KRT5:c.1730T>A protEffect p.Phe577Tyr
HIFD_KRT5:c.1730T>A phenoCommon EBS-K
HIFD_KRT5:c.549C>G commonName c.549C>G
HIFD_KRT5:c.549C>G protEffect p.Ile183Met
HIFD_KRT5:c.549C>G phenoCommon EBS-DM
HIFD_KRT5:c.428T>C commonName c.428T>C
HIFD_KRT5:c.428T>C protEffect p.Val143Ala
HIFD_KRT5:c.428T>C phenoCommon EBS-WC
HIFD_KRT5:c.2T>C commonName c.2T>C
HIFD_KRT5:c.2T>C protEffect p.Met1Thr
HIFD_KRT5:c.2T>C phenoCommon DDD
HIFD_KRT5:c.514A>G commonName c.514A>G
HIFD_KRT5:c.514A>G protEffect p.Ile172Val
HIFD_KRT5:c.514A>G phenoCommon EBS-K
HIFD_KRT5:c.991C>A commonName c.991C>A
HIFD_KRT5:c.991C>A protEffect p.Arg331Ser
HIFD_KRT5:c.991C>A phenoCommon EBS-K
HIFD_KRT5:c.1438A>G commonName c.1438A>G
HIFD_KRT5:c.1438A>G protEffect p.Arg480Gly
HIFD_KRT5:c.1438A>G phenoCommon EBS-K
HIFD_KRT5:c.1636C>A commonName c.1636C>A
HIFD_KRT5:c.1636C>A protEffect p.Leu546Ile
HIFD_KRT5:c.1636C>A phenoCommon EBS-K
HIFD_KRT5:c.568G>A phenoCommon EBS-K
HIFD_KRT5:c.579C>A commonName c.579C>A
HIFD_KRT5:c.579C>A protEffect p.Asn193Lys
HIFD_KRT5:c.579C>A phenoCommon EBS-K
HIFD_KRT5:c.991C>T phenoCommon EBS-K
HIFD_KRT5:c.992G>A phenoCommon EBS-K
HIFD_KRT5:c.1649delG phenoCommon EBS-MCE
HIFD_KRT5:c.413G>A commonName c.413G>A
HIFD_KRT5:c.413G>A protEffect p.Gly138Glu
HIFD_KRT5:c.413G>A phenoCommon EBS-MP
HIFD_KRT5:c.[418dupA]+[982G>C] commonName c.[418dupA]+[982G>C]
HIFD_KRT5:c.[418dupA]+[982G>C] protEffect p.[Ile140AsnfsX0]+[Asp328His]
HIFD_KRT5:c.[418dupA]+[982G>C] phenoCommon EBS-MP
HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA commonName c.1362_1365delGGAGinsAGCTGGTA
HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA protEffect p.Glu455AlafsX117
HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA phenoCommon EBS-K
HIFD_KRT5:c.1411C>T commonName c.1411C>T
HIFD_KRT5:c.1411C>T protEffect p.Arg471Cys
HIFD_KRT5:c.1411C>T phenoCommon EBS-K
HIFD_KRT5:c.1427G>A commonName c.1427G>A
HIFD_KRT5:c.1427G>A protEffect p.Gly476Asp
HIFD_KRT5:c.1427G>A phenoCommon EBS-WC
HIFD_KRT5:c.446T>C commonName c.446T>C
HIFD_KRT5:c.446T>C protEffect p.Leu149Pro
HIFD_KRT5:c.446T>C phenoCommon REBS-WC
HIFD_KRT5:c.451A>C commonName c.451A>C
HIFD_KRT5:c.451A>C protEffect p.Thr151Pro
HIFD_KRT5:c.451A>C phenoCommon EBS-WC
HIFD_KRT5:c.509A>G phenoCommon EBS-WC
HIFD_KRT5:c.539C>A phenoCommon REBS-K
HIFD_KRT5:c.538G>C commonName c.538G>C
HIFD_KRT5:c.538G>C protEffect p.Ala180Pro
HIFD_KRT5:c.538G>C phenoCommon EBS-DM
HIFD_KRT5:c.596A>T phenoCommon REBS-WC
HIFD_KRT5:c.968T>C phenoCommon EBS-WC
HIFD_KRT5:c.560G>C commonName c.560G>C
HIFD_KRT5:c.560G>C protEffect p.Arg187Pro
HIFD_KRT5:c.560G>C phenoCommon EBS-WC
HIFD_KRT5:c.1329G>C commonName c.1329G>C
HIFD_KRT5:c.1329G>C protEffect p.Lys443Asn
HIFD_KRT5:c.1329G>C phenoCommon EBS-WC
HIFD_KRT5:c.1401C>G phenoCommon REBS-K
HIFD_KRT5:c.1427G>A phenoCommon EPPK
HIFD_KRT5:c.1474+4A>G commonName c.1474+4A>G
HIFD_KRT5:c.1474+4A>G protEffect p.?
HIFD_KRT5:c.1474+4A>G phenoCommon EBS-WC
HIFD_KRT5:c.1635delG commonName c.1635delG
HIFD_KRT5:c.1635delG protEffect p.Leu546SerfsX82
HIFD_KRT5:c.1635delG phenoCommon REBS-K
HIFD_KRT5:c.10C>T commonName c.10C>T
HIFD_KRT5:c.10C>T protEffect p.Gln4X
HIFD_KRT5:c.10C>T phenoCommon DDD
HIFD_KRT5:c.508G>A phenoCommon EBS-K
HIFD_KRT5:c.495G>T commonName c.495G>T
HIFD_KRT5:c.495G>T protEffect p.Arg165Ser
HIFD_KRT5:c.495G>T phenoCommon EBS-DM
HIFD_KRT5:c.557T>A commonName c.557T>A
HIFD_KRT5:c.557T>A protEffect p.Val186Glu
HIFD_KRT5:c.557T>A phenoCommon EBS-WC
HIFD_KRT5:c.1282G>A commonName c.1282G>A
HIFD_KRT5:c.1282G>A protEffect p.Ala428Thr
HIFD_KRT5:c.1282G>A phenoCommon EBS-WC
HIFD_KRT6A:c.514_516delAAC commonName c.514_516delAAC
HIFD_KRT6A:c.514_516delAAC protEffect p.Asn172del
HIFD_KRT6A:c.514_516delAAC phenoCommon PC-1
HIFD_KRT6A:c.521T>C commonName c.521T>C
HIFD_KRT6A:c.521T>C protEffect p.Phe174Ser
HIFD_KRT6A:c.521T>C phenoCommon PC-1
HIFD_KRT6A:c.513C>A commonName c.513C>A
HIFD_KRT6A:c.513C>A protEffect p.Asn171Lys
HIFD_KRT6A:c.513C>A phenoCommon PC-1
HIFD_KRT6A:c.520T>G commonName c.520T>G
HIFD_KRT6A:c.520T>G protEffect p.Phe174Val
HIFD_KRT6A:c.520T>G phenoCommon PC-1
HIFD_KRT6A:c.1406T>G commonName c.1406T>G
HIFD_KRT6A:c.1406T>G protEffect p.Leu469Arg
HIFD_KRT6A:c.1406T>G phenoCommon PC-1
HIFD_KRT6A:c.1414G>A commonName c.1414G>A
HIFD_KRT6A:c.1414G>A protEffect p.Glu472Lys
HIFD_KRT6A:c.1414G>A phenoCommon PC-1
HIFD_KRT6A:c.1385T>G commonName c.1385T>G
HIFD_KRT6A:c.1385T>G protEffect p.Ile462Ser
HIFD_KRT6A:c.1385T>G phenoCommon PC-1
HIFD_KRT6A:c.1390A>C commonName c.1390A>C
HIFD_KRT6A:c.1390A>C protEffect p.Thr464Pro
HIFD_KRT6A:c.1390A>C phenoCommon PC-1
HIFD_KRT6A:c.500T>A commonName c.500T>A
HIFD_KRT6A:c.500T>A protEffect p.Ile167Asn
HIFD_KRT6A:c.500T>A phenoCommon PC-1
HIFD_KRT6A:c.508C>T commonName c.508C>T
HIFD_KRT6A:c.508C>T protEffect p.Leu170Phe
HIFD_KRT6A:c.508C>T phenoCommon PC-1
HIFD_KRT6A:c.512A>G commonName c.512A>G
HIFD_KRT6A:c.512A>G protEffect p.Asn171Ser
HIFD_KRT6A:c.512A>G phenoCommon PC-1
HIFD_KRT6A:c.526T>C commonName c.526T>C
HIFD_KRT6A:c.526T>C protEffect p.Ser176Pro
HIFD_KRT6A:c.526T>C phenoCommon PC-1
HIFD_KRT6A:c.1385T>A commonName c.1385T>A
HIFD_KRT6A:c.1385T>A protEffect p.Ile462Asn
HIFD_KRT6A:c.1385T>A phenoCommon PC-1
HIFD_KRT6A:c.1403T>C commonName c.1403T>C
HIFD_KRT6A:c.1403T>C protEffect p.Leu468Pro
HIFD_KRT6A:c.1403T>C phenoCommon PC-1
HIFD_KRT6A:c.1406T>C commonName c.1406T>C
HIFD_KRT6A:c.1406T>C protEffect p.Leu469Pro
HIFD_KRT6A:c.1406T>C phenoCommon PC-1
HIFD_KRT6A:c.1410_1411ins117 commonName c.1410_1411insGATGCCCTGCAGAAGGCCAAGCAGGACCTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAATGTCAAGCTGGCCCTGGACGTGGAGATCGCCACCTACCGCAAGCTGCTGGAG
HIFD_KRT6A:c.1410_1411ins117 protEffect p.Glu470_Gly471ins39
HIFD_KRT6A:c.1410_1411ins117 phenoCommon PC-1
HIFD_KRT6A:c.491G>C commonName c.491G>C
HIFD_KRT6A:c.491G>C protEffect p.Arg164Pro
HIFD_KRT6A:c.491G>C phenoCommon PC-1
HIFD_KRT6A:c.511A>G commonName c.511A>G
HIFD_KRT6A:c.511A>G protEffect p.Asn171Asp
HIFD_KRT6A:c.511A>G phenoCommon PC-1
HIFD_KRT6A:c.1403T>A commonName c.1403T>A
HIFD_KRT6A:c.1403T>A protEffect p.Leu468Gln
HIFD_KRT6A:c.1403T>A phenoCommon PC-1
HIFD_KRT6A:c.511A>T commonName c.511A>T
HIFD_KRT6A:c.511A>T protEffect p.Asn171Tyr
HIFD_KRT6A:c.511A>T phenoCommon PC-1
HIFD_KRT6A:c.521T>G commonName c.521T>G
HIFD_KRT6A:c.521T>G protEffect p.Phe174Cys
HIFD_KRT6A:c.521T>G phenoCommon PC-1
HIFD_KRT6A:c.497A>C commonName c.497A>C
HIFD_KRT6A:c.497A>C protEffect p.Gln166Pro
HIFD_KRT6A:c.497A>C phenoCommon PC-1
HIFD_KRT6A:c.533T>A commonName c.533T>A
HIFD_KRT6A:c.533T>A protEffect p.Ile178Asn
HIFD_KRT6A:c.533T>A phenoCommon PC-1
HIFD_KRT6A:c.1387G>C commonName c.1387G>C
HIFD_KRT6A:c.1387G>C protEffect p.Ala463Pro
HIFD_KRT6A:c.1387G>C phenoCommon PC-1
HIFD_KRT6A:c.1393T>C commonName c.1393T>C
HIFD_KRT6A:c.1393T>C protEffect p.Tyr465His
HIFD_KRT6A:c.1393T>C phenoCommon PC-1
HIFD_KRT6A:c.487G>A commonName c.487G>A
HIFD_KRT6A:c.487G>A protEffect p.Glu163Lys
HIFD_KRT6A:c.487G>A phenoCommon PC-1
HIFD_KRT6A:c.500T>G commonName c.500T>G
HIFD_KRT6A:c.500T>G protEffect p.Ile167Ser
HIFD_KRT6A:c.500T>G phenoCommon PC-1
HIFD_KRT6A:c.512A>C commonName c.512A>C
HIFD_KRT6A:c.512A>C protEffect p.Asn171Thr
HIFD_KRT6A:c.512A>C phenoCommon PC-1
HIFD_KRT6A:c.541-1G>C commonName c.541-1G>C
HIFD_KRT6A:c.541-1G>C protEffect p.?
HIFD_KRT6A:c.541-1G>C phenoCommon PC-1
HIFD_KRT6A:c.541-1G>T commonName c.541-1G>T
HIFD_KRT6A:c.541-1G>T protEffect p.?
HIFD_KRT6A:c.541-1G>T phenoCommon PC-1
HIFD_KRT6A:c.541-2A>C commonName c.541-2A>C
HIFD_KRT6A:c.541-2A>C protEffect p.?
HIFD_KRT6A:c.541-2A>C phenoCommon PC-1
HIFD_KRT6A:c.541-2A>G commonName c.541-2A>G
HIFD_KRT6A:c.541-2A>G protEffect p.?
HIFD_KRT6A:c.541-2A>G phenoCommon PC-1
HIFD_KRT6A:c.1303C>T commonName c.1303C>T
HIFD_KRT6A:c.1303C>T protEffect p.Gln435X
HIFD_KRT6A:c.1303C>T phenoCommon PC-1
HIFD_KRT6A:c.1381G>A commonName c.1381G>A
HIFD_KRT6A:c.1381G>A protEffect p.Glu461Lys
HIFD_KRT6A:c.1381G>A phenoCommon PC-1
HIFD_KRT6A:c.1381G>C commonName c.1381G>C
HIFD_KRT6A:c.1381G>C protEffect p.Glu461Gln
HIFD_KRT6A:c.1381G>C phenoCommon PC-1
HIFD_KRT6A:c.1394A>G commonName c.1394A>G
HIFD_KRT6A:c.1394A>G protEffect p.Tyr465Cys
HIFD_KRT6A:c.1394A>G phenoCommon PC-1
HIFD_KRT6A:c.1416G>C commonName c.1416G>C
HIFD_KRT6A:c.1416G>C protEffect p.Glu472Asp
HIFD_KRT6A:c.1416G>C phenoCommon PC-1
HIFD_KRT6A:c.1511_1512insG commonName c.1511_1512insG
HIFD_KRT6A:c.1511_1512insG protEffect p.Ser505GlnfsX59
HIFD_KRT6A:c.1511_1512insG phenoCommon PC-1
HIFD_KRT6B:c.1414G>A commonName c.1414G>A
HIFD_KRT6B:c.1414G>A protEffect p.Glu472Lys
HIFD_KRT6B:c.1414G>A phenoCommon PC-2
HIFD_KRT6B:c.516_518delCAA commonName c.516_518delCAA
HIFD_KRT6B:c.516_518delCAA protEffect p.Asn172del
HIFD_KRT6B:c.516_518delCAA phenoCommon PC-2
HIFD_KRT6B:c.1381G>A commonName c.1381G>A
HIFD_KRT6B:c.1381G>A protEffect p.Glu461Lys
HIFD_KRT6B:c.1381G>A phenoCommon PC-2
HIFD_KRT6C:c.513_515delCAA commonName c.513_515delCAA
HIFD_KRT6C:c.513_515delCAA protEffect p.Asn172del
HIFD_KRT6C:c.513_515delCAA phenoCommon FNEPPK
HIFD_KRT6C:c.1384_1410del27 commonName c.1384_1410delATCGCCACCTACCGCAAGCTGCTGGAG
HIFD_KRT6C:c.1384_1410del27 protEffect p.Ile462_Glu470del
HIFD_KRT6C:c.1384_1410del27 phenoCommon FNEPPK
HIFD_KRT74:c.444C>G commonName c.444C>G
HIFD_KRT74:c.444C>G protEffect p.Asn148Lys
HIFD_KRT74:c.444C>G phenoCommon ADWH
HIFD_KRT74:c.1444G>A commonName c.1444G>A
HIFD_KRT74:c.1444G>A protEffect p.Asp482Asn
HIFD_KRT74:c.1391-1G>A commonName c.1391-1G>A
HIFD_KRT74:c.1391-1G>A protEffect p.?
HIFD_KRT74:c.1391-1G>A phenoCommon ADWH
HIFD_KRT8:c.160T>C commonName c.160T>C
HIFD_KRT8:c.160T>C protEffect p.Tyr54His
HIFD_KRT8:c.184G>T commonName c.184G>T
HIFD_KRT8:c.184G>T protEffect p.Gly62Cys
HIFD_KRT8:c.158G>T commonName c.158G>T
HIFD_KRT8:c.158G>T protEffect p.Gly53Val
HIFD_KRT8:c.184G>T phenoCommon IBD
HIFD_KRT8:c.187A>G commonName c.187A>G
HIFD_KRT8:c.187A>G protEffect p.Ile63Val
HIFD_KRT8:c.187A>G phenoCommon IBD
HIFD_KRT8:c.1392G>T commonName c.1392G>T
HIFD_KRT8:c.1392G>T protEffect p.Lys464Asn
HIFD_KRT8:c.1392G>T phenoCommon IBD
HIFD_KRT8:c.1022G>A commonName c.1022G>A
HIFD_KRT8:c.1022G>A protEffect p.Arg341His
HIFD_KRT8:c.1300G>A commonName c.1300G>A
HIFD_KRT8:c.1300G>A protEffect p.Gly434Ser
HIFD_KRT8:c.1360C>T commonName c.1360C>T
HIFD_KRT8:c.1360C>T protEffect p.Arg454Cys
HIFD_KRT8:c.1399_1399insC commonName c.1399_1399insC
HIFD_KRT8:c.1399_1399insC protEffect p.Glu467ArgfsX4
HIFD_KRT8:c.1128G>A commonName c.1128G>A
HIFD_KRT8:c.1128G>A protEffect p.=
HIFD_KRT8:c.1138G>A commonName c.1138G>A
HIFD_KRT8:c.1138G>A protEffect p.Val380Ile
HIFD_KRT8:c.77C>G commonName c.77C>G
HIFD_KRT8:c.77C>G protEffect p.Thr26Arg
HIFD_KRT8:c.164G>C commonName c.164G>C
HIFD_KRT8:c.164G>C protEffect p.Gly55Ala
HIFD_KRT8:c.1022G>A phenoCommon IBD
HIFD_KRT8:c.1021C>T commonName c.1021C>T
HIFD_KRT8:c.1021C>T protEffect p.Arg341Cys
HIFD_KRT8:c.1021C>T phenoCommon IBD
HIFD_KRT8:c.184G>T phenoCommon PBC
HIFD_KRT8:c.1022G>A phenoCommon PBC
HIFD_KRT8:c.1138G>A phenoCommon PBC
HIFD_KRT8:c.1202+46A>T commonName c.1202+46A>T
HIFD_KRT8:c.1202+46A>T protEffect p.=
HIFD_KRT81:c.1204G>A commonName c.1204G>A
HIFD_KRT81:c.1204G>A protEffect p.Glu402Lys
HIFD_KRT81:c.1237G>A commonName c.1237G>A
HIFD_KRT81:c.1237G>A protEffect p.Glu413Lys
HIFD_KRT83:c.1219G>A commonName c.1219G>A
HIFD_KRT83:c.1219G>A protEffect p.Glu407Lys
HIFD_KRT85:c.233G>A commonName c.233G>A
HIFD_KRT85:c.233G>A protEffect p.Arg78His
HIFD_KRT86:c.1239G>T commonName c.1239G>T
HIFD_KRT86:c.1239G>T protEffect p.Glu413Asp
HIFD_KRT86:c.1237G>A commonName c.1237G>A
HIFD_KRT86:c.1237G>A protEffect p.Glu413Lys
HIFD_KRT86:c.1204G>A commonName c.1204G>A
HIFD_KRT86:c.1204G>A protEffect p.Glu402Lys
HIFD_KRT86:c.340A>G commonName c.340A>G
HIFD_KRT86:c.340A>G protEffect p.Asn114Asp
HIFD_KRT86:c.340A>C commonName c.340A>C
HIFD_KRT86:c.340A>C protEffect p.Asn114His
HIFD_KRT86:c.1204G>C commonName c.1204G>C
HIFD_KRT86:c.1204G>C protEffect p.Glu402Gln
HIFD_KRT86:c.353C>A commonName c.353C>A
HIFD_KRT86:c.353C>A protEffect p.Ala118Glu
HIFD_DES:c.1009G>C commonName c.1009G>C
HIFD_DES:c.1009G>C protEffect p.Ala337Pro
HIFD_DES:c.[1078G>C; 1178A>T] commonName c.[1078G>C; 1178A>T]
HIFD_DES:c.[1078G>C; 1178A>T] protEffect p.[Ala360Pro; Asn393Ile]
HIFD_DES:c.517_537del21 commonName c.517_537delCGCGCGCGCGTCGACGTCGAG
HIFD_DES:c.517_537del21 protEffect p.Arg173_Glu179del
HIFD_DES:c.1353C>G commonName c.1353C>G
HIFD_DES:c.1353C>G protEffect p.Ile451Met
HIFD_DES:c.1353C>G phenoCommon CMD1I
HIFD_DES:c.1034T>C commonName c.1034T>C
HIFD_DES:c.1034T>C protEffect p.Leu345Pro
HIFD_DES:c.1024A>G commonName c.1024A>G
HIFD_DES:c.1024A>G protEffect p.Asn342Asp
HIFD_DES:c.1216C>T commonName c.1216C>T
HIFD_DES:c.1216C>T protEffect p.Arg406Trp
HIFD_DES:c.735+3A>G commonName c.735+3A>G
HIFD_DES:c.735+3A>G protEffect p.Asp214_Glu245del
HIFD_DES:c.1154T>C commonName c.1154T>C
HIFD_DES:c.1154T>C protEffect p.Leu385Pro
HIFD_DES:c.640-1G>A commonName c.640-1G>A
HIFD_DES:c.640-1G>A protEffect p.Asp214_Glu245del
HIFD_DES:c.1166A>C commonName c.1166A>C
HIFD_DES:c.1166A>C protEffect p.Gln389Pro
HIFD_DES:c.720_721insA commonName c.720_721insA
HIFD_DES:c.720_721insA protEffect p.Lys241GlufsX4
HIFD_DES:c.1069G>C commonName c.1069G>C
HIFD_DES:c.1069G>C protEffect p.Ala357Pro
HIFD_DES:c.1109T>C commonName c.1109T>C
HIFD_DES:c.1109T>C protEffect p.Leu370Pro
HIFD_DES:c.1075_1083delGAGGCCAGT commonName c.1075_1083delGAGGCCAGT
HIFD_DES:c.1075_1083delGAGGCCAGT protEffect p.Glu359_Ser361del
HIFD_DES:c.1096_1098delAAC commonName c.1096_1098delAAC
HIFD_DES:c.1096_1098delAAC protEffect p.Asn366del
HIFD_DES:c.5G>T commonName c.5G>T
HIFD_DES:c.5G>T protEffect p.Ser2Ile
HIFD_DES:c.137C>T commonName c.137C>T
HIFD_DES:c.137C>T protEffect p.Ser46Phe
HIFD_DES:c.137C>A commonName c.137C>A
HIFD_DES:c.137C>A protEffect p.Ser46Tyr
HIFD_DES:c.1346A>C commonName c.1346A>C
HIFD_DES:c.1346A>C protEffect p.Lys449Thr
HIFD_DES:c.735G>C commonName c.735G>C
HIFD_DES:c.735G>C protEffect p.Glu245Asp
HIFD_DES:c.1049G>C commonName c.1049G>C
HIFD_DES:c.1049G>C protEffect p.Arg350Pro
HIFD_DES:c.1064G>C commonName c.1064G>C
HIFD_DES:c.1064G>C protEffect p.Arg355Pro
HIFD_DES:c.1405G>A commonName c.1405G>A
HIFD_DES:c.1405G>A protEffect p.Val469Met
HIFD_DES:c.1237G>A commonName c.1237G>A
HIFD_DES:c.1237G>A protEffect p.Glu413Lys
HIFD_DES:c.1237G>A phenoCommon RCM2
HIFD_DES:c.1126C>T commonName c.1126C>T
HIFD_DES:c.1126C>T protEffect p.Arg406Trp
HIFD_DES:c.46C>T commonName c.46C>T
HIFD_DES:c.46C>T protEffect p.Arg16Cys
HIFD_DES:c.1358C>T commonName c.1358C>T
HIFD_DES:c.1358C>T protEffect p.Thr453Ile
HIFD_DES:c.735+2_735+11delTATACCTTGG commonName c.735+2_735+11delTATACCTTGG
HIFD_DES:c.735+2_735+11delTATACCTTGG protEffect p.?
HIFD_DES:c.1325C>T commonName c.1325C>T
HIFD_DES:c.1325C>T protEffect p.Thr442Ile
HIFD_DES:c.1360C>T commonName c.1360C>T
HIFD_DES:c.1360C>T protEffect p.Arg454Trp
HIFD_DES:c.1379G>T commonName c.1379G>T
HIFD_DES:c.1379G>T protEffect p.Ser460Ile
HIFD_DES:c.638C>T commonName c.638C>T
HIFD_DES:c.638C>T protEffect p.Ala213Val
HIFD_DES:c.1013T>G commonName c.1013T>G
HIFD_DES:c.1013T>G protEffect p.Leu338Arg
HIFD_DES:c.1195G>T commonName c.1195G>T
HIFD_DES:c.1195G>T protEffect p.Asp399Tyr
HIFD_DES:c.1201G>A commonName c.1201G>A
HIFD_DES:c.1201G>A protEffect p.Glu401Lys
HIFD_DES:c.322G>A commonName c.322G>A
HIFD_DES:c.322G>A protEffect p.Glu108Lys
HIFD_DES:c.322G>A phenoCommon DCM-CD
HIFD_DES:c.893C>T commonName c.893C>T
HIFD_DES:c.893C>T protEffect p.Ser298Leu
HIFD_DES:c.893C>T phenoCommon DCM-CD
HIFD_DES:c.934G>A commonName c.934G>A
HIFD_DES:c.934G>A protEffect p.Asp312Asn
HIFD_DES:c.934G>A phenoCommon CMD1A
HIFD_DES:c.1048C>T commonName c.1048C>T
HIFD_DES:c.1048C>T protEffect p.Arg350Trp
HIFD_DES:c.1048C>T phenoCommon CMD1A
HIFD_DES:c.1375G>A commonName c.1375G>A
HIFD_DES:c.1375G>A protEffect p.Val459Ile
HIFD_DES:c.1375G>A phenoCommon CMD1A
HIFD_DES:c.1255C>T commonName c.1255C>T
HIFD_DES:c.1255C>T protEffect p.Pro419Ser
HIFD_DES:c.1175T>C commonName c.1175T>C
HIFD_DES:c.1175T>C protEffect p.Leu392Pro
HIFD_DES:c.1099A>T commonName c.1099A>T
HIFD_DES:c.1099A>T protEffect p.Ile367Phe
HIFD_DES:c.38C>T commonName c.38C>T
HIFD_DES:c.38C>T protEffect p.Ser13Phe
HIFD_DES:c.640-2A>G commonName c.640-2A>G
HIFD_DES:c.640-2A>G protEffect p.?
HIFD_DES:c.640-2A>G phenoCommon CMD1A
HIFD_DES:c.638C>T phenoCommon CMD1A
HIFD_DES:c.640-2A>G phenoCommon RCM2
HIFD_DES:c.340_342delGAG commonName c.340_342delGAG
HIFD_DES:c.340_342delGAG protEffect p.Glu114del
HIFD_DES:c.821T>C commonName c.821T>C
HIFD_DES:c.821T>C protEffect p.Leu274Pro
HIFD_DES:c.35C>T commonName c.35C>T
HIFD_DES:c.35C>T protEffect p.Ser12Phe
HIFD_DES:c.1370A>T commonName c.1370A>T
HIFD_DES:c.1370A>T protEffect p.Glu457Val
HIFD_DES:c.821T>G commonName c.821T>G
HIFD_DES:c.821T>G protEffect p.Leu274Arg
HIFD_DES:c.338_339delAG commonName c.338_339delAG
HIFD_DES:c.338_339delAG protEffect p.Gln113ArgfsX115
HIFD_DES:c.1333A>G commonName c.1333A>G
HIFD_DES:c.1333A>G protEffect p.Thr445Ala
HIFD_DES:c.347A>G commonName c.347A>G
HIFD_DES:c.347A>G protEffect p.Asn116Ser
HIFD_DES:c.347A>G phenoCommon ARVD7
HIFD_GFAP:c.235C>T commonName c.235C>T
HIFD_GFAP:c.235C>T protEffect p.Arg79Cys
HIFD_GFAP:c.715C>T commonName c.715C>T
HIFD_GFAP:c.715C>T protEffect p.Arg239Cys
HIFD_GFAP:c.716G>A commonName c.716G>A
HIFD_GFAP:c.716G>A protEffect p.Arg239His
HIFD_GFAP:c.773G>C commonName c.773G>C
HIFD_GFAP:c.773G>C protEffect p.Arg258Pro
HIFD_GFAP:c.1246C>T commonName c.1246C>T
HIFD_GFAP:c.1246C>T protEffect p.Arg416Trp
HIFD_GFAP:c.236G>A commonName c.236G>A
HIFD_GFAP:c.236G>A protEffect p.Arg79His
HIFD_GFAP:c.[140C>T; 715C>T] commonName c.[140C>T; 715C>T]
HIFD_GFAP:c.[140C>T; 715C>T] protEffect p.[Pro47Leu; Arg239Cys]
HIFD_GFAP:c.226C>T commonName c.226C>T
HIFD_GFAP:c.226C>T protEffect p.Leu76Phe
HIFD_GFAP:c.229A>T commonName c.229A>T
HIFD_GFAP:c.229A>T protEffect p.Asn77Tyr
HIFD_GFAP:c.262C>T commonName c.262C>T
HIFD_GFAP:c.262C>T protEffect p.Arg88Cys
HIFD_GFAP:c.262C>A commonName c.262C>A
HIFD_GFAP:c.262C>A protEffect p.Arg88Ser
HIFD_GFAP:c.731C>T commonName c.731C>T
HIFD_GFAP:c.731C>T protEffect p.Ala244Val
HIFD_GFAP:c.260T>G commonName c.260T>G
HIFD_GFAP:c.260T>G protEffect p.Val87Gly
HIFD_GFAP:c.218T>G commonName c.218T>G
HIFD_GFAP:c.218T>G protEffect p.Met73Arg
HIFD_GFAP:c.235C>G commonName c.235C>G
HIFD_GFAP:c.235C>G protEffect p.Arg79Gly
HIFD_GFAP:c.724T>G commonName c.724T>G
HIFD_GFAP:c.724T>G protEffect p.Tyr242Asp
HIFD_GFAP:c.1117G>A commonName c.1117G>A
HIFD_GFAP:c.1117G>A protEffect p.Glu373Lys
HIFD_GFAP:c.1086G>C commonName c.1086G>C
HIFD_GFAP:c.1086G>C protEffect p.Glu362Asp
HIFD_GFAP:c.290T>C commonName c.290T>C
HIFD_GFAP:c.290T>C protEffect p.Leu97Pro
HIFD_GFAP:c.716G>C commonName c.716G>C
HIFD_GFAP:c.716G>C protEffect p.Arg239Pro
HIFD_GFAP:c.827G>T commonName c.827G>T
HIFD_GFAP:c.827G>T protEffect p.Arg276Leu
HIFD_GFAP:c.236G>T commonName c.236G>T
HIFD_GFAP:c.236G>T protEffect p.Arg79Leu
HIFD_GFAP:c.667G>C commonName c.667G>C
HIFD_GFAP:c.667G>C protEffect p.Glu223Gln
HIFD_GFAP:c.248C>A commonName c.248C>A
HIFD_GFAP:c.248C>A protEffect p.Asp78Glu
HIFD_GFAP:c.1055T>C commonName c.1055T>C
HIFD_GFAP:c.1055T>C protEffect p.Leu352Pro
HIFD_GFAP:c.269T>C commonName c.269T>C
HIFD_GFAP:c.269T>C protEffect p.Leu90Pro
HIFD_GFAP:c.992T>C commonName c.992T>C
HIFD_GFAP:c.992T>C protEffect p.Leu331Pro
HIFD_GFAP:c.187A>C commonName c.187A>C
HIFD_GFAP:c.187A>C protEffect p.Lys63Gln
HIFD_GFAP:c.226C>G commonName c.226C>G
HIFD_GFAP:c.226C>G protEffect p.Leu76Val
HIFD_GFAP:c.230A>G commonName c.230A>G
HIFD_GFAP:c.230A>G protEffect p.Asn77Ser
HIFD_GFAP:c.619G>A commonName c.619G>A
HIFD_GFAP:c.619G>A protEffect p.Glu207Lys
HIFD_GFAP:c.619G>C commonName c.619G>C
HIFD_GFAP:c.619G>C protEffect p.Glu207Gln
HIFD_GFAP:c.628G>A commonName c.628G>A
HIFD_GFAP:c.628G>A protEffect p.Glu210Lys
HIFD_GFAP:c.704T>C commonName c.704T>C
HIFD_GFAP:c.704T>C protEffect p.Leu235Pro
HIFD_GFAP:c.758C>G commonName c.758C>G
HIFD_GFAP:c.758C>G protEffect p.Ala253Gly
HIFD_GFAP:c.835A>G commonName c.835A>G
HIFD_GFAP:c.835A>G protEffect p.Lys279Glu
HIFD_GFAP:c.1075C>G commonName c.1075C>G
HIFD_GFAP:c.1075C>G protEffect p.Leu359Val
HIFD_GFAP:c.1090G>C commonName c.1090G>C
HIFD_GFAP:c.1090G>C protEffect p.Ala364Pro
HIFD_GFAP:c.1096T>C commonName c.1096T>C
HIFD_GFAP:c.1096T>C protEffect p.Tyr366His
HIFD_GFAP:c.1117G>C commonName c.1117G>C
HIFD_GFAP:c.1117G>C protEffect p.Glu373Gln
HIFD_GFAP:c.1121A>G commonName c.1121A>G
HIFD_GFAP:c.1121A>G protEffect p.Glu374Gly
HIFD_GFAP:c.343G>T commonName c.343G>T
HIFD_GFAP:c.343G>T protEffect p.Val115Phe
HIFD_GFAP:c.343G>A commonName c.343G>A
HIFD_GFAP:c.343G>A protEffect p.Val115Ile
HIFD_GFAP:c.1112A>G commonName c.1112A>G
HIFD_GFAP:c.1112A>G protEffect p.Glu371Gly
HIFD_GFAP:c.208C>T commonName c.208C>T
HIFD_GFAP:c.208C>T protEffect p.Arg70Trp
HIFD_GFAP:c.256_259delAAGGinsGAGT commonName c.256_259delAAGGinsGAGT
HIFD_GFAP:c.256_259delAAGGinsGAGT protEffect p.Lys86_Val87delinsGluPhe
HIFD_GFAP:c.1157A>T commonName c.1157A>T
HIFD_GFAP:c.1157A>T protEffect p.Asn386Ile
HIFD_GFAP:c.716G>T commonName c.716G>T
HIFD_GFAP:c.716G>T protEffect p.Arg239Leu
HIFD_GFAP:c.1178G>T commonName c.1178G>T
HIFD_GFAP:c.1178G>T protEffect p.Ser393Ile
HIFD_GFAP:c.[799G>C]+[*28C>G] commonName c.[799G>C]+[*28C>G]
HIFD_GFAP:c.[799G>C]+[*28C>G] protEffect p.[Ala267Pro]+[=]
HIFD_GFAP:c.1079A>T commonName c.1079A>T
HIFD_GFAP:c.1079A>T protEffect p.Asp360Val
HIFD_GFAP:c.1097A>G commonName c.1097A>G
HIFD_GFAP:c.1097A>G protEffect p.Tyr366Cys
HIFD_GFAP:c.1091C>T commonName c.1091C>T
HIFD_GFAP:c.1091C>T protEffect p.Ala364Val
HIFD_GFAP:c.221T>C commonName c.221T>C
HIFD_GFAP:c.221T>C protEffect p.Met74Thr
HIFD_GFAP:c.770A>G commonName c.770A>G
HIFD_GFAP:c.770A>G protEffect p.Tyr257Cys
HIFD_GFAP:c.1247_1249delGGGinsGG commonName c.1247_1249delGGGinsGG
HIFD_GFAP:c.1247_1249delGGGinsGG protEffect p.Asp417MetfsX15
HIFD_GFAP:c.247T>C commonName c.247T>C
HIFD_GFAP:c.247T>C protEffect p.Tyr83His
HIFD_GFAP:c.613G>A commonName c.613G>A
HIFD_GFAP:c.613G>A protEffect p.Glu205Lys
HIFD_GFAP:c.1193C>A commonName c.1193C>A
HIFD_GFAP:c.1193C>A protEffect p.Ser398Tyr
HIFD_GFAP:c.382G>A commonName c.382G>A
HIFD_GFAP:c.382G>A protEffect p.Asp128Asn
HIFD_GFAP:c.209G>A commonName c.209G>A
HIFD_GFAP:c.209G>A protEffect p.Arg70Gln
HIFD_GFAP:c.218T>A commonName c.218T>A
HIFD_GFAP:c.218T>A protEffect p.Met73Lys
HIFD_GFAP:c.236G>C commonName c.236G>C
HIFD_GFAP:c.236G>C protEffect p.Arg79Pro
HIFD_GFAP:c.1076T>C commonName c.1076T>C
HIFD_GFAP:c.1076T>C protEffect p.Leu359Pro
HIFD_GFAP:c.469G>A commonName c.469G>A
HIFD_GFAP:c.469G>A protEffect p.Asp157Asn
HIFD_GFAP:c.1126C>T commonName c.1126C>T
HIFD_GFAP:c.1126C>T protEffect p.Arg376Trp
HIFD_GFAP:c.141G>A commonName c.141G>A
HIFD_GFAP:c.141G>A protEffect p.=
HIFD_GFAP:c.759C>T commonName c.759C>T
HIFD_GFAP:c.759C>T protEffect p.=
HIFD_GFAP:c.988C>G commonName c.988C>G
HIFD_GFAP:c.988C>G protEffect p.Arg330Gly
HIFD_GFAP:c.994G>A commonName c.994G>A
HIFD_GFAP:c.994G>A protEffect p.Glu332Lys
HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] commonName c.[236G>A; =]+[=; 667G>C]
HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] protEffect p.[Arg79His; =]+[=; Glu223Gln]
HIFD_GFAP:c.1070C>T commonName c.1070C>T
HIFD_GFAP:c.1070C>T protEffect p.Pro357Leu
HIFD_GFAP:c.302T>C commonName c.302T>C
HIFD_GFAP:c.302T>C protEffect p.Leu101Pro
HIFD_GFAP:c.1148C>T commonName c.1148C>T
HIFD_GFAP:c.1148C>T protEffect p.Thr383Ile
HIFD_GFAP:c.716G>T phenoCommon APL
HIFD_GFAP:c.259G>C commonName c.259G>C
HIFD_GFAP:c.259G>C protEffect p.Val87Leu
HIFD_GFAP:c.739T>C commonName c.739T>C
HIFD_GFAP:c.739T>C protEffect p.Ser247Pro
HIFD_GFAP:c.1250A>C commonName c.1250A>C
HIFD_GFAP:c.1250A>C protEffect p.Asp417Ala
HIFD_GFAP:c.1277A>T commonName c.1277A>T
HIFD_GFAP:c.1277A>T protEffect p.Gln426Leu
HIFD_GFAP:c.211G>A commonName c.211G>A
HIFD_GFAP:c.211G>A protEffect p.Arg66Gln
HIFD_GFAP:c.214G>A commonName c.214G>A
HIFD_GFAP:c.214G>A protEffect p.Glu72Lys
HIFD_GFAP:c.235C>A commonName c.235C>A
HIFD_GFAP:c.235C>A protEffect p.Arg79Ser
HIFD_GFAP:c.257A>G commonName c.257A>G
HIFD_GFAP:c.257A>G protEffect p.Lys86Glu
HIFD_GFAP:c.707A>C commonName c.707A>C
HIFD_GFAP:c.707A>C protEffect p.Lys236Thr
HIFD_GFAP:c.1111G>C commonName c.1111G>C
HIFD_GFAP:c.1111G>C protEffect p.Glu371Gln
HIFD_GFAP:c.1112A>T commonName c.1112A>T
HIFD_GFAP:c.1112A>T protEffect p.Glu371Val
HIFD_GFAP:c.1126C>G commonName c.1126C>G
HIFD_GFAP:c.1126C>G protEffect p.Arg376Gly
HIFD_GFAP:c.1140C>T commonName c.1140C>T
HIFD_GFAP:c.1140C>T protEffect p.Arg376Trp
HIFD_PRPH:c.229delC commonName c.229delC
HIFD_PRPH:c.229delC protEffect p.Arg77AlafsX53
HIFD_PRPH:c.229delC phenoCommon ALS1
HIFD_PRPH:c.398G>C commonName c.398G>C
HIFD_PRPH:c.398G>C protEffect p.Arg133Pro
HIFD_PRPH:c.398G>C phenoCommon ALS1
HIFD_PRPH:c.421G>T commonName c.421G>T
HIFD_PRPH:c.421G>T protEffect p.Asp141Tyr
HIFD_PRPH:c.421G>T phenoCommon ALS1
HIFD_PRPH:c.703-13C>T commonName c.703-13C>T
HIFD_PRPH:c.703-13C>T protEffect p.=
HIFD_PRPH:c.703-13C>T phenoCommon ALS1
HIFD_PRPH:c.547T>C commonName c.547T>C
HIFD_PRPH:c.547T>C protEffect p.=
HIFD_PRPH:c.547T>C phenoCommon ALS1
HIFD_PRPH:c.870+12G>A commonName c.870+12G>A
HIFD_PRPH:c.870+12G>A protEffect p.=
HIFD_PRPH:c.870+12G>A phenoCommon ALS1
HIFD_PRPH:c.1217+34G>A commonName c.1217+34G>A
HIFD_PRPH:c.1217+34G>A protEffect p.=
HIFD_PRPH:c.1217+34G>A phenoCommon ALS1
HIFD_PRPH:c.-24G>C commonName c.-24G>C
HIFD_PRPH:c.-24G>C protEffect p.=
HIFD_PRPH:c.-24G>C phenoCommon ALS1
HIFD_VIM:c.451G>A commonName c.451G>A
HIFD_VIM:c.451G>A protEffect p.Glu151Lys
HIFD_VIM:c.451G>A phenoCommon ADC
HIFD_NEF3:c.1006G>A commonName c.1006G>A
HIFD_NEF3:c.1006G>A protEffect p.Gly336Ser
HIFD_NEF3:c.1006G>A phenoCommon PD
HIFD_NEF3:c.104T>A commonName c.104T>A
HIFD_NEF3:c.104T>A protEffect p.Phe35Tyr
HIFD_NEF3:c.104T>A phenoCommon ALS1
HIFD_NEF3:c.837C>A commonName c.837C>A
HIFD_NEF3:c.837C>A protEffect p.Ser279Arg
HIFD_NEF3:c.837C>A phenoCommon ALS1
HIFD_NEF3:c.1423G>A commonName c.1423G>A
HIFD_NEF3:c.1423G>A protEffect p.Ala475Thr
HIFD_NEF3:c.1423G>A phenoCommon ALS1
HIFD_NEF3:c.2089G>C commonName c.2089G>C
HIFD_NEF3:c.2089G>C protEffect p.Gly697Arg
HIFD_NEF3:c.2089G>C phenoCommon ALS1
HIFD_NEF3:c.2263G>T commonName c.2263G>T
HIFD_NEF3:c.2263G>T protEffect p.Val755Leu
HIFD_NEF3:c.2263G>T phenoCommon ALS1
HIFD_NEF3:c.2572G>A commonName c.2572G>A
HIFD_NEF3:c.2572G>A protEffect p.Val858Ile
HIFD_NEF3:c.2572G>A phenoCommon ALS1
HIFD_NEF3:c.2153T>C commonName c.2153T>C
HIFD_NEF3:c.2153T>C protEffect p.Val718Ala
HIFD_NEF3:c.2153T>C phenoCommon ALS1
HIFD_NEFH:c.2368_2370delAAG commonName c.2368_2370delAAG
HIFD_NEFH:c.2368_2370delAAG protEffect p.Lys790del
HIFD_NEFH:c.2368_2370delAAG phenoCommon ALS1
HIFD_NEFH:c.1582_1683del102 commonName c.1582_1683delGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCACCG
HIFD_NEFH:c.1582_1683del102 protEffect p.Ala528_Pro561del
HIFD_NEFH:c.1582_1683del102 phenoCommon ALS1
HIFD_NEFH:c.2124_2125ins84 commonName c.2124_2125insAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCC
HIFD_NEFH:c.2124_2125ins84 protEffect p.Ala708_Lys709ins28
HIFD_NEFH:c.2124_2125ins84 phenoCommon ALS1
HIFD_NEFH:c.1965_1988del24 commonName c.1965_1988delAGAGAAGGAAGAGGCCAAGTCCCC
HIFD_NEFH:c.1965_1988del24 protEffect p.Glu656_Pro663del
HIFD_NEFH:c.1965_1988del24 phenoCommon ALS1
HIFD_NEFH:c.1989_2006del18 commonName c.1989_2006delTGAGAAGGCCAAGTCCCC
HIFD_NEFH:c.1989_2006del18 protEffect p.Glu664_Pro669del
HIFD_NEFH:c.1989_2006del18 phenoCommon ALS1
HIFD_NEFH:c.1989_2030del42 commonName c.1989_2030delTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCC
HIFD_NEFH:c.1989_2030del42 protEffect p.Glu664_Pro677del
HIFD_NEFH:c.1989_2030del42 phenoCommon ALS1
HIFD_NEFH:c.2230_2247del18 commonName c.2230_2247delGCCAAGTCCCCAGAGAAG
HIFD_NEFH:c.2230_2247del18 protEffect p.Ala744_Lys749del
HIFD_NEFH:c.2230_2247del18 phenoCommon ALS1
HIFD_NEFH:c.1554A>C commonName c.1554A>C
HIFD_NEFH:c.1554A>C protEffect p.=
HIFD_NEFH:c.1554A>C phenoCommon NIFID
HIFD_NEFH:c.1629A>G commonName c.1629A>G
HIFD_NEFH:c.1629A>G protEffect p.=
HIFD_NEFH:c.1629A>G phenoCommon NIFID
HIFD_NEFH:c.1836A>C commonName c.1836A>C
HIFD_NEFH:c.1836A>C protEffect p.=
HIFD_NEFH:c.1836A>C phenoCommon NIFID
HIFD_NEFH:c.1878A>C commonName c.1878A>C
HIFD_NEFH:c.1878A>C protEffect p.=
HIFD_NEFH:c.1878A>C phenoCommon NIFID
HIFD_NEFH:c.269C>T commonName c.269C>T
HIFD_NEFH:c.269C>T protEffect p.Ala90Val
HIFD_NEFH:c.269C>T phenoCommon ALS1
HIFD_NEFH:c.745G>A commonName c.745G>A
HIFD_NEFH:c.745G>A protEffect p.Gly249Ser
HIFD_NEFH:c.745G>A phenoCommon ALS1
HIFD_NEFH:c.1054C>A commonName c.1054C>A
HIFD_NEFH:c.1054C>A protEffect p.Arg352Ser
HIFD_NEFH:c.1054C>A phenoCommon ALS1
HIFD_NEFH:c.1138G>A commonName c.1138G>A
HIFD_NEFH:c.1138G>A protEffect p.Ala380Thr
HIFD_NEFH:c.1138G>A phenoCommon ALS1
HIFD_NEFL:c.1402G>A commonName c.1402G>A
HIFD_NEFL:c.1402G>A protEffect p.Asp468Asn
HIFD_NEFL:c.1402G>A phenoCommon ALS1
HIFD_NEFL:c.995A>C commonName c.995A>C
HIFD_NEFL:c.995A>C protEffect p.Gln332Pro
HIFD_NEFL:c.995A>C phenoCommon CMT2
HIFD_NEFL:c.22_23delCCinsAG commonName c.22_23delCCinsAG
HIFD_NEFL:c.22_23delCCinsAG protEffect p.Pro8Arg
HIFD_NEFL:c.22_23delCCinsAG phenoCommon CMT2E
HIFD_NEFL:c.64C>A commonName c.64C>A
HIFD_NEFL:c.64C>A protEffect p.Pro22Thr
HIFD_NEFL:c.64C>A phenoCommon CMT1
HIFD_NEFL:c.293A>G commonName c.293A>G
HIFD_NEFL:c.293A>G protEffect p.Asn98Ser
HIFD_NEFL:c.293A>G phenoCommon CMT1
HIFD_NEFL:c.446C>T commonName c.446C>T
HIFD_NEFL:c.446C>T protEffect p.Ala149Val
HIFD_NEFL:c.446C>T phenoCommon CMT1
HIFD_NEFL:c.64C>T commonName c.64C>T
HIFD_NEFL:c.64C>T protEffect p.Pro22Ser
HIFD_NEFL:c.64C>T phenoCommon CMT2
HIFD_NEFL:c.23C>G commonName c.23C>G
HIFD_NEFL:c.23C>G protEffect p.Pro8Arg
HIFD_NEFL:c.23C>G phenoCommon CMT1
HIFD_NEFL:c.23C>T commonName c.23C>T
HIFD_NEFL:c.23C>T protEffect p.Pro8Leu
HIFD_NEFL:c.23C>T phenoCommon CMT1
HIFD_NEFL:c.23C>A commonName c.23C>A
HIFD_NEFL:c.23C>A protEffect p.Pro8Gln
HIFD_NEFL:c.23C>A phenoCommon CMT1
HIFD_NEFL:c.1579_1581delGAG commonName c.1579_1581delGAG
HIFD_NEFL:c.1579_1581delGAG protEffect p.Glu527del
HIFD_NEFL:c.1579_1581delGAG phenoCommon CMT1
HIFD_NEFL:c.19G>A commonName c.19G>A
HIFD_NEFL:c.19G>A protEffect p.Glu7Lys
HIFD_NEFL:c.19G>A phenoCommon CMT1
HIFD_NEFL:c.268G>A commonName c.268G>A
HIFD_NEFL:c.268G>A protEffect p.Glu90Lys
HIFD_NEFL:c.268G>A phenoCommon CMT1
HIFD_NEFL:c.1189G>A commonName c.1189G>A
HIFD_NEFL:c.1189G>A protEffect p.Glu397Lys
HIFD_NEFL:c.1189G>A phenoCommon CMT2E
HIFD_NEFL:c.64C>T phenoCommon CMT2E
HIFD_NEFL:c.1189G>A phenoCommon CMT1F
HIFD_NEFL:c.998T>C commonName c.998T>C
HIFD_NEFL:c.998T>C protEffect p.Leu333Pro
HIFD_NEFL:c.998T>C phenoCommon CMT2E
HIFD_NEFL:c.1575_1576insG commonName c.1575_1576insG
HIFD_NEFL:c.1575_1576insG protEffect p.Glu526Gly
HIFD_NEFL:c.1575_1576insG phenoCommon CMT2E
HIFD_NEFL:c.1579_1581delGAG phenoCommon ALS1
HIFD_NEFL:c.48_60dup13 commonName c.48_60dupGCGCTACGTGGAG
HIFD_NEFL:c.48_60dup13 protEffect p.Thr21AlafsX83
HIFD_NEFL:c.48_60dup13 phenoCommon CMT2
HIFD_NEFL:c.639C>G commonName c.639C>G
HIFD_NEFL:c.639C>G protEffect p.Ile213Met
HIFD_NEFL:c.639C>G phenoCommon CMT2E
HIFD_NEFL:c.803T>C commonName c.803T>C
HIFD_NEFL:c.803T>C protEffect p.Leu268Pro
HIFD_NEFL:c.803T>C phenoCommon CMT2E
HIFD_NEFL:c.1186G>A commonName c.1186G>A
HIFD_NEFL:c.1186G>A protEffect p.Glu396Lys
HIFD_NEFL:c.1186G>A phenoCommon CMT2E
HIFD_NEFL:c.963_977del15 commonName c.963_977delATGCCGGGGCATGAA
HIFD_NEFL:c.963_977del15 protEffect p.Cys322_Asn326del
HIFD_NEFL:c.963_977del15 phenoCommon CMT2E
HIFD_NEFL:c.281T>C commonName c.281T>C
HIFD_NEFL:c.281T>C protEffect p.Leu94Pro
HIFD_NEFL:c.281T>C phenoCommon CMT2
HIFD_NEFL:c.23C>G phenoCommon CMT2
HIFD_NEFL:c.64C>T phenoCommon CMT1
HIFD_NEFL:c.418G>T commonName c.418G>T
HIFD_NEFL:c.418G>T protEffect p.Glu140X
HIFD_NEFL:c.418G>T phenoCommon CMT1
HIFD_NEFL:c.65C>G commonName c.65C>G
HIFD_NEFL:c.65C>G protEffect p.Pro22Arg
HIFD_NEFL:c.65C>G phenoCommon CMT1
HIFD_NEFL:c.1186G>A phenoCommon CMT1
HIFD_LMNA:c.16C>T commonName c.16C>T
HIFD_LMNA:c.16C>T protEffect p.Gln6X
HIFD_LMNA:c.16C>T phenoCommon EDMD2
HIFD_LMNA:c.1357C>T commonName c.1357C>T
HIFD_LMNA:c.1357C>T protEffect p.Arg453Trp
HIFD_LMNA:c.1357C>T phenoCommon EDMD2
HIFD_LMNA:c.1580G>C commonName c.1580G>C
HIFD_LMNA:c.1580G>C protEffect p.Arg527Pro
HIFD_LMNA:c.1580G>C phenoCommon EDMD2
HIFD_LMNA:c.1589T>C commonName c.1589T>C
HIFD_LMNA:c.1589T>C protEffect p.Leu530Pro
HIFD_LMNA:c.1589T>C phenoCommon EDMD2
HIFD_LMNA:c.178C>G commonName c.178C>G
HIFD_LMNA:c.178C>G protEffect p.Arg60Gly
HIFD_LMNA:c.178C>G phenoCommon CMD1A
HIFD_LMNA:c.254T>G commonName c.254T>G
HIFD_LMNA:c.254T>G protEffect p.Leu85Arg
HIFD_LMNA:c.254T>G phenoCommon CMD1A
HIFD_LMNA:c.585C>G commonName c.585C>G
HIFD_LMNA:c.585C>G protEffect p.Asn195Lys
HIFD_LMNA:c.585C>G phenoCommon CMD1A
HIFD_LMNA:c.608A>G commonName c.608A>G
HIFD_LMNA:c.608A>G protEffect p.Glu203Gly
HIFD_LMNA:c.608A>G phenoCommon CMD1A
HIFD_LMNA:c.1445G>A commonName c.1445G>A
HIFD_LMNA:c.1445G>A protEffect p.Arg482Gln
HIFD_LMNA:c.1445G>A phenoCommon FPLD2
HIFD_LMNA:c.1444C>T commonName c.1444C>T
HIFD_LMNA:c.1444C>T protEffect p.Arg482Trp
HIFD_LMNA:c.1444C>T phenoCommon FPLD2
HIFD_LMNA:c.1445G>T commonName c.1445G>T
HIFD_LMNA:c.1445G>T protEffect p.Arg482Leu
HIFD_LMNA:c.1445G>T phenoCommon FPLD2
HIFD_LMNA:c.1458G>C commonName c.1458G>C
HIFD_LMNA:c.1458G>C protEffect p.Lys486Asn
HIFD_LMNA:c.1458G>C phenoCommon FPLD2
HIFD_LMNA:c.1458G>T commonName c.1458G>T
HIFD_LMNA:c.1458G>T protEffect p.Lys486Asn
HIFD_LMNA:c.1458G>T phenoCommon FPLD2
HIFD_LMNA:c.959delT commonName c.959delT
HIFD_LMNA:c.959delT protEffect p.Leu320fsX160
HIFD_LMNA:c.959delT phenoCommon CMD1A
HIFD_LMNA:c.1745G>A commonName c.1745G>A
HIFD_LMNA:c.1745G>A protEffect p.Arg582His
HIFD_LMNA:c.1745G>A phenoCommon FPLD2
HIFD_LMNA:c.1394G>A commonName c.1394G>A
HIFD_LMNA:c.1394G>A protEffect p.Gly465Asp
HIFD_LMNA:c.1394G>A phenoCommon FPLD2
HIFD_LMNA:c.746G>A commonName c.746G>A
HIFD_LMNA:c.746G>A protEffect p.Arg249Gln
HIFD_LMNA:c.746G>A phenoCommon EDMD2
HIFD_LMNA:c.1007G>A commonName c.1007G>A
HIFD_LMNA:c.1007G>A protEffect p.Arg336Gln
HIFD_LMNA:c.1007G>A phenoCommon EDMD2
HIFD_LMNA:c.1406T>C commonName c.1406T>C
HIFD_LMNA:c.1406T>C protEffect p.Ile469Thr
HIFD_LMNA:c.1406T>C phenoCommon EDMD2
HIFD_LMNA:c.1583C>A commonName c.1583C>A
HIFD_LMNA:c.1583C>A protEffect p.Thr528Lys
HIFD_LMNA:c.1583C>A phenoCommon EDMD2
HIFD_LMNA:c.664C>T commonName c.664C>T
HIFD_LMNA:c.664C>T protEffect p.His222Tyr
HIFD_LMNA:c.664C>T phenoCommon EDMD3
HIFD_LMNA:c.1130G>A commonName c.1130G>A
HIFD_LMNA:c.1130G>A protEffect p.Arg377His
HIFD_LMNA:c.1130G>A phenoCommon LGMD1B
HIFD_LMNA:c.1608+5G>C commonName c.1608+5G>C
HIFD_LMNA:c.1608+5G>C protEffect p.Glu537ValfsX36
HIFD_LMNA:c.1608+5G>C phenoCommon LGMD1B
HIFD_LMNA:c.622_624delAAG commonName c.622_624delAAG
HIFD_LMNA:c.622_624delAAG protEffect p.Lys208del
HIFD_LMNA:c.622_624delAAG phenoCommon LGMD1B
HIFD_LMNA:c.448A>C commonName c.448A>C
HIFD_LMNA:c.448A>C protEffect p.Thr150Pro
HIFD_LMNA:c.448A>C phenoCommon EDMD2
HIFD_LMNA:c.781_783delAAG commonName c.781_783delAAG
HIFD_LMNA:c.781_783delAAG protEffect p.Lys261del
HIFD_LMNA:c.781_783delAAG phenoCommon EDMD2
HIFD_LMNA:c.134A>G commonName c.134A>G
HIFD_LMNA:c.134A>G protEffect p.Tyr45Cys
HIFD_LMNA:c.134A>G phenoCommon EDMD2
HIFD_LMNA:c.149G>C commonName c.149G>C
HIFD_LMNA:c.149G>C protEffect p.Arg50Pro
HIFD_LMNA:c.149G>C phenoCommon EDMD2
HIFD_LMNA:c.188T>G commonName c.188T>G
HIFD_LMNA:c.188T>G protEffect p.Ile63Ser
HIFD_LMNA:c.188T>G phenoCommon EDMD2
HIFD_LMNA:c.665A>C commonName c.665A>C
HIFD_LMNA:c.665A>C protEffect p.His222Pro
HIFD_LMNA:c.665A>C phenoCommon EDMD2
HIFD_LMNA:c.695G>A commonName c.695G>A
HIFD_LMNA:c.695G>A protEffect p.Gly232Glu
HIFD_LMNA:c.695G>A phenoCommon EDMD2
HIFD_LMNA:c.881A>C commonName c.881A>C
HIFD_LMNA:c.881A>C protEffect p.Gln294Pro
HIFD_LMNA:c.881A>C phenoCommon EDMD2
HIFD_LMNA:c.1072G>A commonName c.1072G>A
HIFD_LMNA:c.1072G>A protEffect p.Glu358Lys
HIFD_LMNA:c.1072G>A phenoCommon EDMD2
HIFD_LMNA:c.1112T>A commonName c.1112T>A
HIFD_LMNA:c.1112T>A protEffect p.Met371Lys
HIFD_LMNA:c.1112T>A phenoCommon EDMD2
HIFD_LMNA:c.1368C>A commonName c.1368C>A
HIFD_LMNA:c.1368C>A protEffect p.Asn456Lys
HIFD_LMNA:c.1368C>A phenoCommon EDMD2
HIFD_LMNA:c.1559G>C commonName c.1559G>C
HIFD_LMNA:c.1559G>C protEffect p.Trp520Ser
HIFD_LMNA:c.1559G>C phenoCommon EDMD2
HIFD_LMNA:c.334_336delGAG commonName c.334_336delGAG
HIFD_LMNA:c.334_336delGAG protEffect p.Glu112del
HIFD_LMNA:c.334_336delGAG phenoCommon EDMD2
HIFD_LMNA:c.1397_1397delA commonName c.1397_1397delA
HIFD_LMNA:c.1397_1397delA protEffect p.Asn466IlefsX14
HIFD_LMNA:c.1397_1397delA phenoCommon CMD1A
HIFD_LMNA:c.1751G>A commonName c.1751G>A
HIFD_LMNA:c.1751G>A protEffect p.Arg584His
HIFD_LMNA:c.1751G>A phenoCommon FPLD2
HIFD_LMNA:c.16C>T phenoCommon CMD1A
HIFD_LMNA:c.1930C>T commonName c.1930C>T
HIFD_LMNA:c.1930C>T protEffect p.Arg644Cys
HIFD_LMNA:c.1930C>T phenoCommon CMD1A
HIFD_LMNA:c.74G>C commonName c.74G>C
HIFD_LMNA:c.74G>C protEffect p.Arg25Pro
HIFD_LMNA:c.74G>C phenoCommon EDMD2
HIFD_LMNA:c.127G>A commonName c.127G>A
HIFD_LMNA:c.127G>A protEffect p.Ala43Thr
HIFD_LMNA:c.127G>A phenoCommon EDMD2
HIFD_LMNA:c.148C>A commonName c.148C>A
HIFD_LMNA:c.148C>A protEffect p.Arg50Ser
HIFD_LMNA:c.148C>A phenoCommon EDMD2
HIFD_LMNA:c.398G>C commonName c.398G>C
HIFD_LMNA:c.398G>C protEffect p.Arg133Pro
HIFD_LMNA:c.398G>C phenoCommon EDMD2
HIFD_LMNA:c.588_596delGCTGCAGAC commonName c.588_596delGCTGCAGAC
HIFD_LMNA:c.588_596delGCTGCAGAC protEffect p.Arg196_Thr199delinsSer
HIFD_LMNA:c.588_596delGCTGCAGAC phenoCommon EDMD2
HIFD_LMNA:c.1871G>A commonName c.1871G>A
HIFD_LMNA:c.1871G>A protEffect p.Arg624His
HIFD_LMNA:c.1871G>A phenoCommon EDMD2
HIFD_LMNA:c.1367A>T commonName c.1367A>T
HIFD_LMNA:c.1367A>T protEffect p.Asn456Ile
HIFD_LMNA:c.1367A>T phenoCommon EDMD2
HIFD_LMNA:c.1441T>C commonName c.1441T>C
HIFD_LMNA:c.1441T>C protEffect p.Tyr481His
HIFD_LMNA:c.1441T>C phenoCommon LGMD1B
HIFD_LMNA:c.892C>T commonName c.892C>T
HIFD_LMNA:c.892C>T protEffect p.Arg298Cys
HIFD_LMNA:c.892C>T phenoCommon CMT2B1
HIFD_LMNA:c.331G>T commonName c.331G>T
HIFD_LMNA:c.331G>T protEffect p.Glu111X
HIFD_LMNA:c.331G>T phenoCommon CMD1A
HIFD_LMNA:c.289A>G commonName c.289A>G
HIFD_LMNA:c.289A>G protEffect p.Lys97Glu
HIFD_LMNA:c.289A>G phenoCommon CMD1A
HIFD_LMNA:c.568C>T commonName c.568C>T
HIFD_LMNA:c.568C>T protEffect p.Arg190Trp
HIFD_LMNA:c.568C>T phenoCommon CMD1A
HIFD_LMNA:c.949G>A commonName c.949G>A
HIFD_LMNA:c.949G>A protEffect p.Glu317Lys
HIFD_LMNA:c.949G>A phenoCommon CMD1A
HIFD_LMNA:c.82C>T commonName c.82C>T
HIFD_LMNA:c.82C>T protEffect p.Arg28Trp
HIFD_LMNA:c.82C>T phenoCommon FPLD2
HIFD_LMNA:c.184C>G commonName c.184C>G
HIFD_LMNA:c.184C>G protEffect p.Arg62Gly
HIFD_LMNA:c.184C>G phenoCommon FPLD2
HIFD_LMNA:c.1130G>T commonName c.1130G>T
HIFD_LMNA:c.1130G>T protEffect p.Arg377Leu
HIFD_LMNA:c.1130G>T phenoCommon LGMD1B
HIFD_LMNA:c.1580G>A commonName c.1580G>A
HIFD_LMNA:c.1580G>A protEffect p.Arg527His
HIFD_LMNA:c.1580G>A phenoCommon MADA
HIFD_LMNA:c.178C>G phenoCommon FPLD2
HIFD_LMNA:c.1201C>T commonName c.1201C>T
HIFD_LMNA:c.1201C>T protEffect p.Arg401Cys
HIFD_LMNA:c.1201C>T phenoCommon EDMD2
HIFD_LMNA:c.907T>C commonName c.907T>C
HIFD_LMNA:c.907T>C protEffect p.Ser303Pro
HIFD_LMNA:c.907T>C phenoCommon EDMD2
HIFD_LMNA:c.188T>A commonName c.188T>A
HIFD_LMNA:c.188T>A protEffect p.Ile63Asn
HIFD_LMNA:c.188T>A phenoCommon EDMD2
HIFD_LMNA:c.94_96delAAG commonName c.94_96delAAG
HIFD_LMNA:c.94_96delAAG protEffect p.Lys32del
HIFD_LMNA:c.94_96delAAG phenoCommon EDMD2
HIFD_LMNA:c.644T>C commonName c.644T>C
HIFD_LMNA:c.644T>C protEffect p.Leu215Pro
HIFD_LMNA:c.644T>C phenoCommon CMD1A
HIFD_LMNA:c.266G>T commonName c.266G>T
HIFD_LMNA:c.266G>T protEffect p.Arg89Leu
HIFD_LMNA:c.266G>T phenoCommon CMD1A
HIFD_LMNA:c.1130G>A phenoCommon CMD1A
HIFD_LMNA:c.1718C>T commonName c.1718C>T
HIFD_LMNA:c.1718C>T protEffect p.Ser573Leu
HIFD_LMNA:c.1718C>T phenoCommon CMD1A
HIFD_LMNA:c.398G>T commonName c.398G>T
HIFD_LMNA:c.398G>T protEffect p.Arg133Leu
HIFD_LMNA:c.1824C>T commonName c.1824C>T
HIFD_LMNA:c.1824C>T protEffect "p.[=, Val607_Gln656del]"
HIFD_LMNA:c.1824C>T phenoCommon HGPS
HIFD_LMNA:c.433G>A commonName c.433G>A
HIFD_LMNA:c.433G>A protEffect p.Glu145Lys
HIFD_LMNA:c.433G>A phenoCommon HGPS
HIFD_LMNA:c.1822G>A commonName c.1822G>A
HIFD_LMNA:c.1822G>A protEffect p.Gly608Ser
HIFD_LMNA:c.1822G>A phenoCommon HGPS
HIFD_LMNA:c.1411C>T commonName c.1411C>T
HIFD_LMNA:c.1411C>T protEffect p.Arg471Cys
HIFD_LMNA:c.1411C>T phenoCommon HGPS
HIFD_LMNA:c.1579C>T commonName c.1579C>T
HIFD_LMNA:c.1579C>T protEffect p.Arg527Cys
HIFD_LMNA:c.1579C>T phenoCommon HGPS
HIFD_LMNA:c.481G>A commonName c.481G>A
HIFD_LMNA:c.481G>A protEffect p.Glu161Lys
HIFD_LMNA:c.481G>A phenoCommon CMD1A
HIFD_LMNA:c.28_29insA commonName c.28_29insA
HIFD_LMNA:c.28_29insA protEffect p.Thr10AsnfsX31
HIFD_LMNA:c.28_29insA phenoCommon CMD1A
HIFD_LMNA:c.169G>C commonName c.169G>C
HIFD_LMNA:c.169G>C protEffect p.Ala57Pro
HIFD_LMNA:c.169G>C phenoCommon WRN
HIFD_LMNA:c.398G>T phenoCommon WRN
HIFD_LMNA:c.419T>G commonName c.419T>G
HIFD_LMNA:c.419T>G protEffect p.Leu140Arg
HIFD_LMNA:c.419T>G phenoCommon WRN
HIFD_LMNA:c.513G>A commonName c.513G>A
HIFD_LMNA:c.513G>A protEffect p.=
HIFD_LMNA:c.513G>A phenoCommon LGMD1B
HIFD_LMNA:c.1621C>T commonName c.1621C>T
HIFD_LMNA:c.1621C>T protEffect p.Arg541Cys
HIFD_LMNA:c.1621C>T phenoCommon DCM-CD
HIFD_LMNA:c.103C>G commonName c.103C>G
HIFD_LMNA:c.103C>G protEffect p.Leu35Val
HIFD_LMNA:c.103C>G phenoCommon EDMD2
HIFD_LMNA:c.743T>C commonName c.743T>C
HIFD_LMNA:c.743T>C protEffect p.Leu248Pro
HIFD_LMNA:c.743T>C phenoCommon EDMD2
HIFD_LMNA:c.800A>G commonName c.800A>G
HIFD_LMNA:c.800A>G protEffect p.Tyr267Cys
HIFD_LMNA:c.800A>G phenoCommon EDMD2
HIFD_LMNA:c.1337A>T commonName c.1337A>T
HIFD_LMNA:c.1337A>T protEffect p.Asp446Val
HIFD_LMNA:c.1337A>T phenoCommon EDMD2
HIFD_LMNA:c.1583C>G commonName c.1583C>G
HIFD_LMNA:c.1583C>G protEffect p.Thr528Arg
HIFD_LMNA:c.1583C>G phenoCommon EDMD2
HIFD_LMNA:c.1622G>A commonName c.1622G>A
HIFD_LMNA:c.1622G>A protEffect p.Arg541His
HIFD_LMNA:c.1622G>A phenoCommon EDMD2
HIFD_LMNA:c.73C>G commonName c.73C>G
HIFD_LMNA:c.73C>G protEffect p.Arg25Gly
HIFD_LMNA:c.73C>G phenoCommon EDMD2
HIFD_LMNA:c.1072G>A phenoCommon CMD
HIFD_LMNA:c.99G>T commonName c.99G>T
HIFD_LMNA:c.99G>T protEffect p.Glu33Asp
HIFD_LMNA:c.29C>T commonName c.29C>T
HIFD_LMNA:c.29C>T protEffect p.Thr10Ile
HIFD_LMNA:c.29C>T phenoCommon HGPS
HIFD_LMNA:c.1733A>T commonName c.1733A>T
HIFD_LMNA:c.1733A>T protEffect p.Glu578Val
HIFD_LMNA:c.1733A>T phenoCommon HGPS
HIFD_LMNA:c.1930C>T phenoCommon HGPS
HIFD_LMNA:c.1868C>G commonName c.1868C>G
HIFD_LMNA:c.1868C>G protEffect "p.[Thr623Ser, Val622_Gln656del]"
HIFD_LMNA:c.1868C>G phenoCommon HGPS
HIFD_LMNA:c.427T>C commonName c.427T>C
HIFD_LMNA:c.427T>C protEffect p.Ser143Pro
HIFD_LMNA:c.427T>C phenoCommon CMD1A
HIFD_LMNA:c.1046G>T commonName c.1046G>T
HIFD_LMNA:c.1046G>T protEffect p.Arg349Leu
HIFD_LMNA:c.1046G>T phenoCommon CMD1A
HIFD_LMNA:c.1626G>C commonName c.1626G>C
HIFD_LMNA:c.1626G>C protEffect p.Lys542Asn
HIFD_LMNA:c.1626G>C phenoCommon HGPS
HIFD_LMNA:c.1748C>T commonName c.1748C>T
HIFD_LMNA:c.1748C>T protEffect p.Ser583Leu
HIFD_LMNA:c.1748C>T phenoCommon FPLD1
HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] commonName c.[1583C>T; =]+[=; 1748C>T]
HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] protEffect p.[Thr528Met; =]+[=; Ser583Leu]
HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] phenoCommon FPLD1
HIFD_LMNA:c.1824C>T phenoCommon RD
HIFD_LMNA:c.1968+1G>A commonName c.1968+1G>A
HIFD_LMNA:c.1968+1G>A protEffect p.Gly567_Gln656del
HIFD_LMNA:c.1968+1G>A phenoCommon RD
HIFD_LMNA:c.1621C>T phenoCommon CMD1A
HIFD_LMNA:c.428C>T commonName c.428C>T
HIFD_LMNA:c.428C>T protEffect p.Ser143Phe
HIFD_LMNA:c.428C>T phenoCommon EDMD2
HIFD_LMNA:c.428C>T phenoCommon HGPS
HIFD_LMNA:c.777T>A commonName c.777T>A
HIFD_LMNA:c.777T>A protEffect p.Tyr259X
HIFD_LMNA:c.777T>A phenoCommon LGMD1B
HIFD_LMNA:c.1187A>G commonName c.1187A>G
HIFD_LMNA:c.1187A>G protEffect p.Gln396Arg
HIFD_LMNA:c.1187A>G phenoCommon EDMD2
HIFD_LMNA:c.640-10A>G commonName c.640-10A>G
HIFD_LMNA:c.640-10A>G protEffect p.?
HIFD_LMNA:c.640-10A>G phenoCommon CMD1A
HIFD_LMNA:c.1930C>A commonName c.1930C>A
HIFD_LMNA:c.1930C>A protEffect p.Arg644His
HIFD_LMNA:c.1930C>A phenoCommon CMD1A
HIFD_LMNA:c.1494G>T commonName c.1494G>T
HIFD_LMNA:c.1494G>T protEffect p.Trp498Cys
HIFD_LMNA:c.1494G>T phenoCommon LGMD1B
HIFD_LMNA:c.1804G>A commonName c.1804G>A
HIFD_LMNA:c.1804G>A protEffect p.Gly602Ser
HIFD_LMNA:c.864_867delCCAC commonName c.864_867delCCAC
HIFD_LMNA:c.864_867delCCAC protEffect p.His289ArgfsX189
HIFD_LMNA:c.864_867delCCAC phenoCommon LGMD1B
HIFD_LMNA:c.1586C>T commonName c.1586C>T
HIFD_LMNA:c.1586C>T protEffect p.Ala529Val
HIFD_LMNA:c.1586C>T phenoCommon MADA
HIFD_LMNA:c.575A>G commonName c.575A>G
HIFD_LMNA:c.575A>G protEffect p.Asp192Gly
HIFD_LMNA:c.575A>G phenoCommon CMD1A
HIFD_LMNA:c.1621C>A commonName c.1621C>A
HIFD_LMNA:c.1621C>A protEffect p.Arg541Ser
HIFD_LMNA:c.1621C>A phenoCommon CMD1A
HIFD_LMNA:c.1443C>G commonName c.1443C>G
HIFD_LMNA:c.1443C>G protEffect p.Tyr481X
HIFD_LMNA:c.1443C>G phenoCommon CMD1A
HIFD_LMNA:c.1535T>C commonName c.1535T>C
HIFD_LMNA:c.1535T>C protEffect p.Leu512Pro
HIFD_LMNA:c.1535T>C phenoCommon LGMD1B
HIFD_LMNA:c.425_426ins21 commonName c.425_426insGGCACTGGAGGCTCTGCTGAA
HIFD_LMNA:c.425_426ins21 protEffect p.Leu141_Asn142ins7
HIFD_LMNA:c.425_426ins21 phenoCommon CMD1A
HIFD_LMNA:c.394G>C commonName c.394G>C
HIFD_LMNA:c.394G>C protEffect p.Ala132Pro
HIFD_LMNA:c.394G>C phenoCommon CMD1A
HIFD_LMNA:c.1085_1085delT commonName c.1085_1085delT
HIFD_LMNA:c.1085_1085delT protEffect p.Leu363TrpfsX117
HIFD_LMNA:c.1085_1085delT phenoCommon CMD1A
HIFD_LMNA:c.1493_1493delG commonName c.1493_1493delG
HIFD_LMNA:c.1493_1493delG protEffect p.Ala499LeufsX47
HIFD_LMNA:c.1493_1493delG phenoCommon CMD1A
HIFD_LMNA:c.1930C>T phenoCommon EDMD2
HIFD_LMNA:c.976T>A commonName c.976T>A
HIFD_LMNA:c.976T>A protEffect p.Ser326Thr
HIFD_LMNA:c.976T>A phenoCommon CMD1A
HIFD_LMNA:c.244G>A commonName c.244G>A
HIFD_LMNA:c.244G>A protEffect p.Glu82Lys
HIFD_LMNA:c.244G>A phenoCommon CMD1A
HIFD_LMNA:c.1488+5G>C commonName c.1488+5G>C
HIFD_LMNA:c.1488+5G>C protEffect p.Ile497_Met664delins20
HIFD_LMNA:c.1488+5G>C phenoCommon FPLD2
HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] commonName c.[1318G>A; =]+[=; 1445G>A]
HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] protEffect p.[Val440Met; =]+[=; Arg482Gln]
HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] phenoCommon FPLD2
HIFD_LMNA:c.908_909delCT commonName c.908_909delCT
HIFD_LMNA:c.908_909delCT protEffect p.Ser303CysfsX26
HIFD_LMNA:c.908_909delCT phenoCommon CMD1A
HIFD_LMNA:c.1960C>T commonName c.1960C>T
HIFD_LMNA:c.1960C>T protEffect p.Arg654X
HIFD_LMNA:c.1960C>T phenoCommon HGPS
HIFD_LMNA:c.1579_1580insCTGC commonName c.1579_1580insCTGC
HIFD_LMNA:c.1579_1580insCTGC protEffect p.Arg527ProfsX26
HIFD_LMNA:c.1579_1580insCTGC phenoCommon CMD1A
HIFD_LMNA:c.31delC commonName c.31delC
HIFD_LMNA:c.31delC protEffect p.Arg11AlafsX85
HIFD_LMNA:c.31delC phenoCommon CMD1A
HIFD_LMNA:c.1157G>A commonName c.1157G>A
HIFD_LMNA:c.1157G>A protEffect p.Arg386Lys
HIFD_LMNA:c.1157G>A phenoCommon EDMD2
HIFD_LMNA:c.419T>C commonName c.419T>C
HIFD_LMNA:c.419T>C protEffect p.Leu140Pro
HIFD_LMNA:c.419T>C phenoCommon EDMD2
HIFD_LMNA:c.1130G>T phenoCommon EDMD2
HIFD_LMNA:c.-3_12del15 commonName c.-3_12delGCCATGGAGACCCCG
HIFD_LMNA:c.-3_12del15 protEffect p.Met1_Pro4del
HIFD_LMNA:c.-3_12del15 phenoCommon EDMD2
HIFD_LMNA:c.-3_12del15 phenoCommon CMT2
HIFD_LMNA:c.607G>A commonName c.607G>A
HIFD_LMNA:c.607G>A protEffect p.Glu203Lys
HIFD_LMNA:c.607G>A phenoCommon CMD1A
HIFD_LMNA:c.673C>T commonName c.673C>T
HIFD_LMNA:c.673C>T protEffect p.Arg225X
HIFD_LMNA:c.673C>T phenoCommon CMD1A
HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] commonName c.[1583C>T; =]+[=; 1619T>C]
HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] protEffect p.[Thr528Met; =]+[=; Met540Thr]
HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] phenoCommon HGPS
HIFD_LMNA:c.1130G>A phenoCommon EDMD2
HIFD_LMNA:c.31delC phenoCommon EDMD2
HIFD_LMNA:c.99G>C commonName c.99G>C
HIFD_LMNA:c.99G>C protEffect p.Glu33Asp
HIFD_LMNA:c.99G>C phenoCommon EDMD2
HIFD_LMNA:c.116A>G commonName c.116A>G
HIFD_LMNA:c.116A>G protEffect p.Asn39Ser
HIFD_LMNA:c.116A>G phenoCommon EDMD2
HIFD_LMNA:c.775T>G commonName c.775T>G
HIFD_LMNA:c.775T>G protEffect p.Tyr259Asp
HIFD_LMNA:c.775T>G phenoCommon EDMD2
HIFD_LMNA:c.1146C>T commonName c.1146C>T
HIFD_LMNA:c.1146C>T protEffect p.=
HIFD_LMNA:c.1146C>T phenoCommon LGMD1B
HIFD_LMNA:c.1357C>T phenoCommon LGMD1B
HIFD_LMNA:c.1583C>A phenoCommon LGMD1B
HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] commonName c.[992G>A; =]+[=; 1039G>A]
HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] protEffect p.[Arg331Glu; =]+[=; Glu347Lys]
HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] phenoCommon CMD1A
HIFD_LMNA:c.1718C>T phenoCommon LGMD1B
HIFD_LMNA:c.1477C>T commonName c.1477C>T
HIFD_LMNA:c.1477C>T protEffect p.Gln493X
HIFD_LMNA:c.1477C>T phenoCommon AD-SMA
HIFD_LMNA:c.1130G>T phenoCommon AD-SMA
HIFD_LMNA:c.688G>A commonName c.688G>A
HIFD_LMNA:c.688G>A protEffect p.Asp230Asn
HIFD_LMNA:c.688G>A phenoCommon FPLD2
HIFD_LMNA:c.1195C>T commonName c.1195C>T
HIFD_LMNA:c.1195C>T protEffect p.Arg399Cys
HIFD_LMNA:c.1195C>T phenoCommon FPLD2
HIFD_LMNA:c.1718C>T phenoCommon FPLD2
HIFD_LMNA:c.176T>G commonName c.176T>G
HIFD_LMNA:c.176T>G protEffect p.Leu59Arg
HIFD_LMNA:c.176T>G phenoCommon MADA
HIFD_LMNA:c.1968+1G>A phenoCommon HGPS
HIFD_LMNA:c.1821G>A commonName c.1821G>A
HIFD_LMNA:c.1821G>A protEffect p.=
HIFD_LMNA:c.1821G>A phenoCommon HGPS
HIFD_LMNA:c.575A>G phenoCommon DCM-CD
HIFD_LMNA:c.568C>T phenoCommon DCM-CD
HIFD_LMNA:c.481G>A phenoCommon DCM-CD
HIFD_LMNA:c.158A>T commonName c.158A>T
HIFD_LMNA:c.158A>T protEffect p.Glu53Val
HIFD_LMNA:c.158A>T phenoCommon DCM-CD
HIFD_LMNA:c.556G>A commonName c.556G>A
HIFD_LMNA:c.556G>A protEffect p.Glu186Lys
HIFD_LMNA:c.556G>A phenoCommon DCM-CD
HIFD_LMNA:c.800A>G phenoCommon CMD1A
HIFD_LMNA:c.855delG commonName c.855delG
HIFD_LMNA:c.855delG protEffect p.Ala287LeufsX191
HIFD_LMNA:c.855delG phenoCommon CMD1A
HIFD_LMNA:c.855delG phenoCommon LGMD1B
HIFD_LMNA:c.992G>C commonName c.992G>C
HIFD_LMNA:c.992G>C protEffect p.Arg331Pro
HIFD_LMNA:c.992G>C phenoCommon CMD1A
HIFD_LMNA:c.992G>C phenoCommon LGMD1B
HIFD_LMNA:c.1370delA commonName c.1370delA
HIFD_LMNA:c.1370delA protEffect p.Lys457SerfsX21
HIFD_LMNA:c.1370delA phenoCommon CMD1A
HIFD_LMNA:c.1370delA phenoCommon LGMD1B
HIFD_LMNA:c.1526_1527insC commonName c.1526_1527insC
HIFD_LMNA:c.1526_1527insC protEffect p.Thr510TyrfsX42
HIFD_LMNA:c.1526_1527insC phenoCommon DCM-CD
HIFD_LMNA:c.1162C>T commonName c.1162C>T
HIFD_LMNA:c.1162C>T protEffect p.Arg388Cys
HIFD_LMNA:c.1162C>T phenoCommon EDMD2
HIFD_LMNA:c.1162C>T phenoCommon CMD
HIFD_LMNA:c.1368_1370delCAA commonName c.1368_1370delCAA
HIFD_LMNA:c.1368_1370delCAA protEffect p.Asn456del
HIFD_LMNA:c.1368_1370delCAA phenoCommon CMD
HIFD_LMNA:c.1368_1370delCAA phenoCommon EDMD2
HIFD_LMNA:c.624_626delGAA commonName c.624_626delGAA
HIFD_LMNA:c.624_626delGAA protEffect p.Lys208del
HIFD_LMNA:c.624_626delGAA phenoCommon LGMD1B
HIFD_LMNA:c.673C>T phenoCommon CCD
HIFD_LMNA:c.1380+1G>A commonName c.1380+1G>A
HIFD_LMNA:c.1380+1G>A protEffect p.?
HIFD_LMNA:c.1380+1G>A phenoCommon CMD1A
HIFD_LMNA:c.1315C>T commonName c.1315C>T
HIFD_LMNA:c.1315C>T protEffect p.Arg439Cys
HIFD_LMNA:c.1315C>T phenoCommon FPLD2
HIFD_LMNA:c.398G>T phenoCommon FPLD2
HIFD_LMNA:c.1512_1513insAG commonName c.1512_1513insAG
HIFD_LMNA:c.1512_1513insAG protEffect p.Thr505ArgfsX44
HIFD_LMNA:c.1512_1513insAG phenoCommon CMD1A
HIFD_LMNA:c.585C>A commonName c.585C>A
HIFD_LMNA:c.585C>A protEffect p.Asn195Lys
HIFD_LMNA:c.585C>A phenoCommon CMD1A
HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] commonName c.[1318G>A; =]+[=; 1580G>A]
HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] protEffect p.[Val440Met; =]+[=; Arg527His]
HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] phenoCommon MADA
HIFD_LMNA:c.961C>T commonName c.961C>T
HIFD_LMNA:c.961C>T protEffect p.Arg321X
HIFD_LMNA:c.961C>T phenoCommon CMD1A
HIFD_LMNA:c.625delA commonName c.625delA
HIFD_LMNA:c.625delA protEffect p.Asn209ThrfsX271
HIFD_LMNA:c.625delA phenoCommon EDMD2
HIFD_LMNA:c.908_909delCT phenoCommon LGMD1B
HIFD_LMNA:c.73C>T commonName c.73C>T
HIFD_LMNA:c.73C>T protEffect p.Arg25Cys
HIFD_LMNA:c.1622G>C commonName c.1622G>C
HIFD_LMNA:c.1622G>C protEffect p.Arg541Pro
HIFD_LMNA:c.1045C>T commonName c.1045C>T
HIFD_LMNA:c.1045C>T protEffect p.Arg349Trp
HIFD_LMNA:c.1772G>T commonName c.1772G>T
HIFD_LMNA:c.1772G>T protEffect p.Arg156Cys
HIFD_LMNA:c.1772G>T phenoCommon FPLD2
HIFD_LMNA:c.1558T>G commonName c.1558T>G
HIFD_LMNA:c.1558T>G protEffect p.Trp520Gly
HIFD_LMNA:c.1558T>G phenoCommon EDMD2
HIFD_LMNA:c.1142A>C commonName c.1142A>C
HIFD_LMNA:c.1142A>C protEffect p.Glu381Ala
HIFD_LMNA:c.1142A>C phenoCommon EDMD2
HIFD_LMNA:c.265C>T commonName c.265C>T
HIFD_LMNA:c.265C>T protEffect p.Arg89Cys
HIFD_LMNA:c.265C>T phenoCommon EDMD2
HIFD_LMNA:c.1585G>A commonName c.1585G>A
HIFD_LMNA:c.1585G>A protEffect p.Ala529Thr
HIFD_LMNA:c.1585G>A phenoCommon MADA
HIFD_LMNA:c.1411C>G commonName c.1411C>G
HIFD_LMNA:c.1411C>G protEffect p.Arg471Gly
HIFD_LMNA:c.1411C>G phenoCommon FPLD2
HIFD_LMNA:c.1411C>G phenoCommon FPLD1
HIFD_LMNA:c.176T>G phenoCommon CMD1A
HIFD_LMNA:c.1411C>T phenoCommon MADA
HIFD_LMNA:c.1698C>T commonName c.1698C>T
HIFD_LMNA:c.1698C>T protEffect p.=
HIFD_LMNA:c.274C>T commonName c.274C>T
HIFD_LMNA:c.274C>T protEffect p.Leu92Phe
HIFD_LMNA:c.1184C>T commonName c.1184C>T
HIFD_LMNA:c.1184C>T protEffect p.Ser395Leu
HIFD_LMNA:c.1159C>G commonName c.1159C>G
HIFD_LMNA:c.1159C>G protEffect p.Leu387Val
HIFD_LMNA:c.1196G>A commonName c.1196G>A
HIFD_LMNA:c.1196G>A protEffect p.Arg399His
HIFD_LMNA:c.1262T>C commonName c.1262T>C
HIFD_LMNA:c.1262T>C protEffect p.Leu421Pro
HIFD_LMNA:c.1516C>G commonName c.1516C>G
HIFD_LMNA:c.1516C>G protEffect p.His506Asp
HIFD_LMNA:c.1964_1965insG commonName c.1964_1965insG
HIFD_LMNA:c.1964_1965insG protEffect p.Thr655fsX49
HIFD_LMNA:c.1069G>C commonName c.1069G>C
HIFD_LMNA:c.1069G>C protEffect p.Asp357His
HIFD_LMNA:c.1069G>C phenoCommon DCM-CD
HIFD_LMNA:c.302G>C commonName c.302G>C
HIFD_LMNA:c.302G>C protEffect p.Arg101Pro
HIFD_LMNA:c.302G>C phenoCommon CMD1A
HIFD_LMNA:c.357-1G>T commonName c.357-1G>T
HIFD_LMNA:c.357-1G>T protEffect p.?
HIFD_LMNA:c.357-1G>T phenoCommon CMD1A
HIFD_LMNA:c.497G>C commonName c.497G>C
HIFD_LMNA:c.497G>C protEffect p.Arg166Pro
HIFD_LMNA:c.497G>C phenoCommon CMD1A
HIFD_LMNA:c.569G>A commonName c.569G>A
HIFD_LMNA:c.569G>A protEffect p.Arg190Gln
HIFD_LMNA:c.569G>A phenoCommon CMD1A
HIFD_LMNA:c.629T>G commonName c.629T>G
HIFD_LMNA:c.629T>G protEffect p.Ile210Ser
HIFD_LMNA:c.629T>G phenoCommon CMD1A
HIFD_LMNA:c.700C>T commonName c.700C>T
HIFD_LMNA:c.700C>T protEffect p.Gln234X
HIFD_LMNA:c.700C>T phenoCommon CMD1A
HIFD_LMNA:c.952G>A commonName c.952G>A
HIFD_LMNA:c.952G>A protEffect p.Ala318Thr
HIFD_LMNA:c.952G>A phenoCommon CMD1A
HIFD_LMNA:c.1114delG commonName c.1114delG
HIFD_LMNA:c.1114delG protEffect p.Glu372ArgfsX107
HIFD_LMNA:c.1114delG phenoCommon CMD1A
HIFD_LMNA:c.1488+5G>A commonName c.1488+5G>A
HIFD_LMNA:c.1488+5G>A protEffect p.?
HIFD_LMNA:c.1488+5G>A phenoCommon LGMD1B
HIFD_LMNA:c.1163G>A commonName c.1163G>A
HIFD_LMNA:c.1163G>A protEffect p.Arg388His
HIFD_LMNA:c.1163G>A phenoCommon CMD1A
HIFD_LMNA:c.1195C>T phenoCommon CMD1A
HIFD_LMNA:c.1307_1308insGCAC commonName c.1307_1308insGCAC
HIFD_LMNA:c.1307_1308insGCAC protEffect p.Ser437HisfsX1
HIFD_LMNA:c.1307_1308insGCAC phenoCommon CMD1A
HIFD_LMNA:c.1412G>A commonName c.1412G>A
HIFD_LMNA:c.1412G>A protEffect p.Arg471His
HIFD_LMNA:c.1412G>A phenoCommon CMD1A
HIFD_LMNA:c.1424_1425insAGA commonName c.1424_1425insAGA
HIFD_LMNA:c.1424_1425insAGA protEffect p.Gly474_Asp475insGlu
HIFD_LMNA:c.1424_1425insAGA phenoCommon CMD1A
HIFD_LMNA:c.1960C>T phenoCommon CMD1A
HIFD_LMNA:c.1072G>T commonName c.1072G>T
HIFD_LMNA:c.1072G>T protEffect p.Glu358X
HIFD_LMNA:c.1072G>T phenoCommon CMD1A
HIFD_LMNA:c.1579C>T phenoCommon MADA
HIFD_LMNA:c.1496_1496delC commonName c.1496_1496delC
HIFD_LMNA:c.1496_1496delC protEffect p.Ala499ValfsX141
HIFD_LMNA:c.1496_1496delC phenoCommon CMT2
HIFD_LMNA:c.1609-3C>G commonName c.1609-3C>G
HIFD_LMNA:c.1609-3C>G protEffect p.?
HIFD_LMNA:c.1609-3C>G phenoCommon LGMD1B
HIFD_LMNA:c.1609-12T>G commonName c.1609-12T>G
HIFD_LMNA:c.1609-12T>G protEffect p.Glu536fsX14
HIFD_LMNA:c.82C>T phenoCommon CMD1A
HIFD_LMNA:c.548T>C commonName c.548T>C
HIFD_LMNA:c.548T>C protEffect p.Leu183Pro
HIFD_LMNA:c.548T>C phenoCommon CMD1A
HIFD_LMNA:c.656A>C commonName c.656A>C
HIFD_LMNA:c.656A>C protEffect p.Lys219Thr
HIFD_LMNA:c.656A>C phenoCommon CMD1A
HIFD_LMNA:c.1492T>A commonName c.1492T>A
HIFD_LMNA:c.1492T>A protEffect p.Trp498Arg
HIFD_LMNA:c.1492T>A phenoCommon EDMD2
HIFD_LMNA:c.1492T>A phenoCommon CMD1A
HIFD_LMNA:c.1130G>T phenoCommon CMD1A
HIFD_LMNA:c.203_208delAGGTGG commonName c.203_208delAGGTGG
HIFD_LMNA:c.203_208delAGGTGG protEffect p.Glu68_Val69del
HIFD_LMNA:c.203_208delAGGTGG phenoCommon CMD1A
HIFD_LMNA:c.203_208delAGGTGG phenoCommon EDMD2
HIFD_LMNA:c.736C>T commonName c.736C>T
HIFD_LMNA:c.736C>T protEffect p.Gln246X
HIFD_LMNA:c.736C>T phenoCommon CMD1A
HIFD_LMNA:c.936+1G>T commonName c.936+1G>T
HIFD_LMNA:c.936+1G>T protEffect p.?
HIFD_LMNA:c.936+1G>T phenoCommon CMD1A
HIFD_LMNA:c.514-1G>A commonName c.514-1G>A
HIFD_LMNA:c.514-1G>A protEffect p.?
HIFD_LMNA:c.514-1G>A phenoCommon DCM-CD
HIFD_LMNA:c.1157+1G>A commonName c.1157+1G>A
HIFD_LMNA:c.1157+1G>A protEffect p.?
HIFD_LMNA:c.1157+1G>A phenoCommon DCM-CD
HIFD_LMNA:c.1580G>C phenoCommon EDMD3
HIFD_LMNA:c.608A>T commonName c.608A>T
HIFD_LMNA:c.608A>T protEffect p.Glu203Val
HIFD_LMNA:c.608A>T phenoCommon CMD1A
HIFD_LMNA:c.898G>A commonName c.898G>A
HIFD_LMNA:c.898G>A protEffect p.Asp300Asn
HIFD_LMNA:c.898G>A phenoCommon WRN
HIFD_LMNA:c.1608+1G>A commonName c.1608+1G>A
HIFD_LMNA:c.1608+1G>A protEffect p.?
HIFD_LMNA:c.1608+1G>A phenoCommon LGMD1B
HIFD_LMNA:c.799T>C commonName c.799T>C
HIFD_LMNA:c.799T>C protEffect p.Tyr267His
HIFD_LMNA:c.799T>C phenoCommon CCD
HIFD_LMNA:c.485T>C commonName c.485T>C
HIFD_LMNA:c.485T>C protEffect p.Leu162Pro
HIFD_LMNA:c.485T>C phenoCommon EDMD2
HIFD_LMNA:c.1139T>C commonName c.1139T>C
HIFD_LMNA:c.1139T>C protEffect p.Leu380Ser
HIFD_LMNA:c.1139T>C phenoCommon CMD
HIFD_LMNA:c.506delT commonName c.506delT
HIFD_LMNA:c.506delT protEffect p.Val169GlyfsX7
HIFD_LMNA:c.506delT phenoCommon WRN
HIFD_LMNA:c.745C>T commonName c.745C>T
HIFD_LMNA:c.745C>T protEffect p.Arg249Trp
HIFD_LMNA:c.745C>T phenoCommon CMD
HIFD_LMNA:c.905T>C commonName c.905T>C
HIFD_LMNA:c.905T>C protEffect p.Leu302Pro
HIFD_LMNA:c.1364G>C commonName c.1364G>C
HIFD_LMNA:c.1364G>C protEffect p.Arg455Pro
HIFD_LMNA:c.1358G>C commonName c.1358G>C
HIFD_LMNA:c.1358G>C protEffect p.Arg453Pro
HIFD_LMNA:c.1366A>G commonName c.1366A>G
HIFD_LMNA:c.1366A>G protEffect p.Asn456Asp
HIFD_LMNA:c.1381-2A>G commonName c.1381-2A>G
HIFD_LMNA:c.1381-2A>G protEffect p.?
HIFD_LMNA:c.106C>T commonName c.106C>T
HIFD_LMNA:c.106C>T protEffect p.Gln36X
HIFD_LMNA:c.106C>T phenoCommon DCM-CD
HIFD_LMNA:c.810+63C>A commonName c.810+63C>A
HIFD_LMNA:c.810+63C>A protEffect p.?
HIFD_LMNA:c.810+63C>A phenoCommon LAF
HIFD_LMNA:c.1158-44C>T commonName c.1158-44C>T
HIFD_LMNA:c.1158-44C>T protEffect p.?
HIFD_LMNA:c.1158-44C>T phenoCommon LAF
HIFD_LMNA:c.937-46A>G commonName c.937-46A>G
HIFD_LMNA:c.937-46A>G protEffect p.?
HIFD_LMNA:c.937-46A>G phenoCommon LAF
HIFD_LMNA:c.1149G>A commonName c.1149G>A
HIFD_LMNA:c.1149G>A protEffect p.=
HIFD_LMNA:c.1149G>A phenoCommon LAF
HIFD_LMNA:c.1803C>T commonName c.1803C>T
HIFD_LMNA:c.1803C>T protEffect p.=
HIFD_LMNA:c.1803C>T phenoCommon LAF
HIFD_LMNA:c.373G>A commonName c.373G>A
HIFD_LMNA:c.373G>A protEffect p.Gly125Ser
HIFD_LMNA:c.373G>A phenoCommon LAF
HIFD_LMNA:c.1243G>A commonName c.1243G>A
HIFD_LMNA:c.1243G>A protEffect p.Val415Ile
HIFD_LMNA:c.1243G>A phenoCommon LAF
HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] commonName c.[373G>A; =]+[=; 1243G>A]
HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] protEffect p.[Gly125Ser; =]+[=; Val415Ile]
HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] phenoCommon LAF
HIFD_LMNA:c.1462A>C commonName c.1462A>C
HIFD_LMNA:c.1462A>C protEffect p.Thr488Pro
HIFD_LMNA:c.1462A>C phenoCommon LAF
HIFD_LMNA:c.139G>C commonName c.139G>C
HIFD_LMNA:c.139G>C protEffect p.Asp47His
HIFD_LMNA:c.139G>C phenoCommon EDMD2
HIFD_LMNA:c.694G>C commonName c.694G>C
HIFD_LMNA:c.694G>C protEffect p.Gly232Arg
HIFD_LMNA:c.694G>C phenoCommon EDMD2
HIFD_LMNA:c.746G>A phenoCommon LGMD1B
HIFD_LMNA:c.1622G>A phenoCommon CMD1A
HIFD_LMNA:c.1048G>C commonName c.1048G>C
HIFD_LMNA:c.1048G>C protEffect p.Ala350Pro
HIFD_LMNA:c.1048G>C phenoCommon CMD1A
HIFD_LMNA:c.155T>C commonName c.155T>C
HIFD_LMNA:c.155T>C protEffect p.Leu52Pro
HIFD_LMNA:c.155T>C phenoCommon CMD1A
HIFD_LMNA:c.1904G>A commonName c.1904G>A
HIFD_LMNA:c.1904G>A protEffect p.Gly635Asp
HIFD_LMNA:c.1904G>A phenoCommon CMD1A
HIFD_LMNA:c.1930C>T phenoCommon FPLD2
HIFD_LMNA:c.781_783delAAGins18 commonName c.781_783delAAGinsGTGGAGCAGTATAAGAAA
HIFD_LMNA:c.781_783delAAGins18 protEffect p.Lys261delins6
HIFD_LMNA:c.781_783delAAGins18 phenoCommon EDMD2
HIFD_LMNA:c.1633C>T commonName c.1633C>T
HIFD_LMNA:c.1633C>T protEffect p.Arg545Cys
HIFD_LMNA:c.1633C>T phenoCommon EDMD2
HIFD_LMNA:c.98A>G commonName c.98A>G
HIFD_LMNA:c.98A>G protEffect p.Glu33Gly
HIFD_LMNA:c.98A>G phenoCommon EDMD2
HIFD_LMNA:c.136A>G commonName c.136A>G
HIFD_LMNA:c.136A>G protEffect p.Ile46Val
HIFD_LMNA:c.136A>G phenoCommon EDMD2
HIFD_LMNA:c.274C>T phenoCommon CMD1A
HIFD_LMNA:c.1567G>A commonName c.1567G>A
HIFD_LMNA:c.1567G>A protEffect p.Gly523Arg
HIFD_LMNA:c.1567G>A phenoCommon CMD1A
HIFD_LMNA:c.1157G>T commonName c.1157G>T
HIFD_LMNA:c.1157G>T protEffect p.Arg386Met
HIFD_LMNA:c.1157G>T phenoCommon EDMD2
HIFD_LMNA:c.775T>C commonName c.775T>C
HIFD_LMNA:c.775T>C protEffect p.Tyr259His
HIFD_LMNA:c.815_818delACAAinsCCAGAC commonName c.815_818delACAAinsCCAGAC
HIFD_LMNA:c.815_818delACAAinsCCAGAC protEffect p.Asp272AlafsX208
HIFD_LMNA:c.1063C>T commonName c.1063C>T
HIFD_LMNA:c.1063C>T protEffect p.Gln355X
HIFD_LMNA:c.1063C>T phenoCommon CMD1A
HIFD_LMNA:c.992G>A commonName c.992G>A
HIFD_LMNA:c.992G>A protEffect p.Arg331Gln
HIFD_LMNA:c.992G>A phenoCommon CMD1A
HIFD_LMNA:c.1294C>T commonName c.1294C>T
HIFD_LMNA:c.1294C>T protEffect p.Gln432X
HIFD_LMNA:c.1294C>T phenoCommon CMD1A
HIFD_LMNA:c.1318G>A commonName c.1318G>A
HIFD_LMNA:c.1318G>A protEffect p.Val440Met
HIFD_LMNA:c.1318G>A phenoCommon CMD1A
HIFD_LMNA:c.406G>C commonName c.406G>C
HIFD_LMNA:c.406G>C protEffect p.Asp136His
HIFD_LMNA:c.406G>C phenoCommon HGPS
HIFD_LMNA:c.11C>G commonName c.11C>G
HIFD_LMNA:c.11C>G protEffect p.Pro4Arg
HIFD_LMNA:c.11C>G phenoCommon HGPS
HIFD_LMNA:c.1762T>C commonName c.1762T>C
HIFD_LMNA:c.1762T>C protEffect p.Cys588Arg
HIFD_LMNA:c.1762T>C phenoCommon HGPS
HIFD_LMNA:c.331G>T phenoCommon HGPS
HIFD_LMNA:c.475G>A commonName c.475G>A
HIFD_LMNA:c.475G>A protEffect p.Glu159Lys
HIFD_LMNA:c.475G>A phenoCommon HGPS
HIFD_LMNA:c.1303C>T commonName c.1303C>T
HIFD_LMNA:c.1303C>T protEffect p.Arg435Cys
HIFD_LMNA:c.1303C>T phenoCommon HGPS
HIFD_LMNA:c.1057C>A commonName c.1057C>A
HIFD_LMNA:c.1057C>A protEffect p.Gln353Lys
HIFD_LMNA:c.1057C>A phenoCommon CMD1A
HIFD_LMNA:c.73C>G phenoCommon CMD1A
HIFD_LMNA:c.73C>G phenoCommon LGMD1B
HIFD_LMNA:c.575A>T commonName c.575A>T
HIFD_LMNA:c.575A>T protEffect p.Asp192Val
HIFD_LMNA:c.575A>T phenoCommon FPLD2
HIFD_LMNA:c.1102_1130dup29 commonName c.1102_1130dupGCCCTGGACATGGAGATCCACGCCTACCG
HIFD_LMNA:c.1102_1130dup29 protEffect p.Lys378ProfsX112
HIFD_LMNA:c.1102_1130dup29 phenoCommon CMD1A
HIFD_LMNA:c.673C>T phenoCommon LGMD1B
HIFD_LMNA:c.788T>C commonName c.788T>C
HIFD_LMNA:c.788T>C protEffect p.Leu263Pro
HIFD_LMNA:c.788T>C phenoCommon EDMD2
HIFD_LMNA:c.565C>T commonName c.565C>T
HIFD_LMNA:c.565C>T protEffect p.Arg189Trp
HIFD_LMNA:c.565C>T phenoCommon CMD1A
HIFD_LMNA:c.302G>C phenoCommon LGMD1B
HIFD_LMNA:c.115A>T commonName c.115A>T
HIFD_LMNA:c.115A>T protEffect p.Asn39Tyr
HIFD_LMNA:c.115A>T phenoCommon CMD
HIFD_LMNA:c.357C>T commonName c.357C>T
HIFD_LMNA:c.357C>T protEffect p.=
HIFD_LMNA:c.357C>T phenoCommon EDMD2
HIFD_LMNA:c.568_570dupCGG commonName c.568_570dupCGG
HIFD_LMNA:c.568_570dupCGG protEffect p.Arg190dup
HIFD_LMNA:c.568_570dupCGG phenoCommon EDMD2
HIFD_LMNA:c.618C>G commonName c.618C>G
HIFD_LMNA:c.618C>G protEffect p.Phe206Leu
HIFD_LMNA:c.618C>G phenoCommon EDMD2
HIFD_LMNA:c.802T>C commonName c.802T>C
HIFD_LMNA:c.802T>C protEffect p.Ser268Pro
HIFD_LMNA:c.802T>C phenoCommon EDMD2
HIFD_LMNA:c.810G>A commonName c.810G>A
HIFD_LMNA:c.810G>A protEffect p.=
HIFD_LMNA:c.810G>A phenoCommon EDMD2
HIFD_LMNA:c.810+1G>A commonName c.810+1G>A
HIFD_LMNA:c.810+1G>A protEffect p.?
HIFD_LMNA:c.810+1G>A phenoCommon EDMD2
HIFD_LMNA:c.883T>C commonName c.883T>C
HIFD_LMNA:c.883T>C protEffect p.Ser295Pro
HIFD_LMNA:c.883T>C phenoCommon EDMD2
HIFD_LMNA:c.1081G>A commonName c.1081G>A
HIFD_LMNA:c.1081G>A protEffect p.Glu361Lys
HIFD_LMNA:c.1081G>A phenoCommon EDMD2
HIFD_LMNA:c.1064_1066delAGC commonName c.1064_1066delAGC
HIFD_LMNA:c.1064_1066delAGC protEffect p.Gln355del
HIFD_LMNA:c.1064_1066delAGC phenoCommon EDMD2
HIFD_LMNA:c.1158-2A>G commonName c.1158-2A>G
HIFD_LMNA:c.1158-2A>G protEffect p.?
HIFD_LMNA:c.1158-2A>G phenoCommon EDMD2
HIFD_LMNA:c.1346G>A commonName c.1346G>A
HIFD_LMNA:c.1346G>A protEffect p.Gly449Asp
HIFD_LMNA:c.1346G>A phenoCommon EDMD2
HIFD_LMNA:c.1361T>C commonName c.1361T>C
HIFD_LMNA:c.1361T>C protEffect p.Leu454Pro
HIFD_LMNA:c.1361T>C phenoCommon EDMD2
HIFD_LMNA:c.1399T>C commonName c.1399T>C
HIFD_LMNA:c.1399T>C protEffect p.Trp467Arg
HIFD_LMNA:c.1399T>C phenoCommon EDMD2
HIFD_LMNA:c.1488+1G>A commonName c.1488+1G>A
HIFD_LMNA:c.1488+1G>A protEffect p.?
HIFD_LMNA:c.1488+1G>A phenoCommon EDMD2
HIFD_LMNA:c.745C>T phenoCommon EDMD2
HIFD_LMNA:c.[745C>T; 1930C>T] commonName c.[745C>T; 1930C>T]
HIFD_LMNA:c.[745C>T; 1930C>T] protEffect p.[Arg249Trp; Arg644Cys]
HIFD_LMNA:c.[745C>T; 1930C>T] phenoCommon EDMD2
HIFD_LMNA:c.812T>C commonName c.812T>C
HIFD_LMNA:c.812T>C protEffect p.Leu271Pro
HIFD_LMNA:c.812T>C phenoCommon EDMD2
HIFD_LMNA:c.1381-2A>G phenoCommon EDMD2
HIFD_LMNA:c.[1381-1G>T; 1381G>T] commonName c.[1381-1G>T; 1381G>T]
HIFD_LMNA:c.[1381-1G>T; 1381G>T] protEffect p.[?; Asp461Tyr]
HIFD_LMNA:c.[1381-1G>T; 1381G>T] phenoCommon EDMD2
HIFD_LMNA:c.1526dupC commonName c.1526dupC
HIFD_LMNA:c.1526dupC protEffect p.Thr510TyrfsX42
HIFD_LMNA:c.1526dupC phenoCommon EDMD2
HIFD_LMNA:c.1621C>A phenoCommon EDMD2
HIFD_LMNA:c.1622G>C phenoCommon EDMD2
HIFD_LMNA:c.1804G>A phenoCommon EDMD2
HIFD_LMNA:c.566_567delGGinsCC commonName c.566_567delGGinsCC
HIFD_LMNA:c.566_567delGGinsCC protEffect p.Arg189Pro
HIFD_LMNA:c.566_567delGGinsCC phenoCommon EDMD2
HIFD_LMNA:c.104T>C commonName c.104T>C
HIFD_LMNA:c.104T>C protEffect p.Leu35Pro
HIFD_LMNA:c.104T>C phenoCommon CMD
HIFD_LMNA:c.1621C>G commonName c.1621C>G
HIFD_LMNA:c.1621C>G protEffect p.Arg541Gly
HIFD_LMNA:c.1621C>G phenoCommon CMD1A
HIFD_LMNA:c.937-11C>G commonName c.937-11C>G
HIFD_LMNA:c.937-11C>G protEffect p.Leu313GlyfsX31
HIFD_LMNA:c.937-11C>G phenoCommon CMD1A
HIFD_LMNA:c.348_349insG commonName c.348_349insG
HIFD_LMNA:c.348_349insG protEffect p.Lys117GlufsX10
HIFD_LMNA:c.348_349insG phenoCommon CMD1A
HIFD_LMNA:c.1445G>A phenoCommon T2D
HIFD_LMNA:c.1303C>T phenoCommon RD
HIFD_LMNA:c.1232G>A commonName c.1232G>A
HIFD_LMNA:c.1232G>A protEffect p.Gly411Asp
HIFD_LMNA:c.1232G>A phenoCommon FPLD2
HIFD_LMNA:c.1892G>A commonName c.1892G>A
HIFD_LMNA:c.1892G>A protEffect p.Gly631Asp
HIFD_LMNA:c.1892G>A phenoCommon FPLD2
HIFD_LMNA:c.412G>A commonName c.412G>A
HIFD_LMNA:c.412G>A protEffect p.Glu138Lys
HIFD_LMNA:c.412G>A phenoCommon HGPS
HIFD_LMNA:c.1711C>A commonName c.1711C>A
HIFD_LMNA:c.1711C>A protEffect p.Arg571Ser
HIFD_LMNA:c.1711C>A phenoCommon CMD1A
HIFD_LMNA:c.1711C>T commonName c.1711C>T
HIFD_LMNA:c.1711C>T protEffect p.Arg571Cys
HIFD_LMNB2:c.644G>A commonName c.644G>A
HIFD_LMNB2:c.644G>A protEffect p.Arg215Gln
HIFD_LMNB2:c.644G>A phenoCommon APL
HIFD_LMNB2:c.205-6C>T commonName c.205-6C>T
HIFD_LMNB2:c.205-6C>T protEffect p.?
HIFD_LMNB2:c.205-6C>T phenoCommon APL
HIFD_LMNB2:c.1219G>A commonName c.1219G>A
HIFD_LMNB2:c.1219G>A protEffect p.Ala407Thr
HIFD_LMNB2:c.1219G>A phenoCommon APL
HIFD_BFSP2:c.859C>T commonName c.859C>T
HIFD_BFSP2:c.859C>T protEffect p.Arg287Trp
HIFD_BFSP2:c.859C>T phenoCommon ADC
HIFD_BFSP2:c.697_699delGAA commonName c.697_699delGAA
HIFD_BFSP2:c.697_699delGAA protEffect p.Glu233del
HIFD_BFSP2:c.697_699delGAA phenoCommon ADC
HIFD_KRT12:c.55C>T commonName c.55C>T
HIFD_KRT12:c.55C>T protEffect p.Arg19Trp
HIFD_KRT12:c.55C>T disease not phenotype-associated
HIFD_KRT12:c.43C>T commonName c.43C>T
HIFD_KRT12:c.43C>T protEffect p.Pro15Ser
HIFD_KRT12:c.43C>T disease not phenotype-associated
HIFD_KRT12:c.*360A>C commonName c.*360A>C
HIFD_KRT12:c.*360A>C protEffect p.=
HIFD_KRT12:c.*360A>C disease not phenotype-associated
HIFD_KRT14:c.369T>C commonName c.369T>C
HIFD_KRT14:c.369T>C protEffect p.=
HIFD_KRT14:c.369T>C disease not phenotype-associated
HIFD_KRT14:c.[556G>A]+[1237G>A] commonName c.[556G>A]+[1237G>A]
HIFD_KRT14:c.[556G>A]+[1237G>A] protEffect p.[Val186Met]+[Ala413Thr]
HIFD_KRT14:c.[556G>A]+[1237G>A] phenoCommon EBS-K
HIFD_KRT14:c.88C>T commonName c.88C>T
HIFD_KRT14:c.88C>T protEffect p.Arg30Lys
HIFD_KRT14:c.88C>T phenoCommon EBS-WC
HIFD_KRT14:c.88C>T disease not phenotype-associated
HIFD_KRT14:c.231C>T commonName c.231C>T
HIFD_KRT14:c.231C>T protEffect p.=
HIFD_KRT14:c.231C>T disease not phenotype-associated
HIFD_KRT14:c.280G>A commonName c.280G>A
HIFD_KRT14:c.280G>A protEffect p.Ala94Thr
HIFD_KRT14:c.280G>A disease not phenotype-associated
HIFD_KRT14:c.6C>T commonName c.6C>T
HIFD_KRT14:c.6C>T protEffect p.=
HIFD_KRT14:c.6C>T disease not phenotype-associated
HIFD_KRT14:c.188A>G commonName c.188A>G
HIFD_KRT14:c.188A>G protEffect p.Tyr63Cys
HIFD_KRT14:c.188A>G disease not phenotype-associated
HIFD_KRT14:c.189C>T commonName c.189C>T
HIFD_KRT14:c.189C>T protEffect p.=
HIFD_KRT14:c.189C>T disease not phenotype-associated
HIFD_KRT14:c.193C>T commonName c.193C>T
HIFD_KRT14:c.193C>T protEffect p.=
HIFD_KRT14:c.193C>T disease not phenotype-associated
HIFD_KRT14:c.1322-13A>G commonName c.1322-13A>G
HIFD_KRT14:c.1322-13A>G protEffect p.=
HIFD_KRT14:c.1322-13A>G disease not phenotype-associated
HIFD_KRT17:c.309T>C commonName c.309T>C
HIFD_KRT17:c.309T>C protEffect p.=
HIFD_KRT17:c.309T>C disease not phenotype-associated
HIFD_KRT18:c.418-4C>G commonName c.418-4C>G
HIFD_KRT18:c.418-4C>G protEffect p.=
HIFD_KRT18:c.418-4C>G disease not phenotype-associated
HIFD_KRT18:c.689G>C commonName c.689G>C
HIFD_KRT18:c.689G>C protEffect p.Ser230Thr
HIFD_KRT18:c.689G>C disease not phenotype-associated
HIFD_KRT18:c.993C>T commonName c.993C>T
HIFD_KRT18:c.993C>T protEffect p.=
HIFD_KRT18:c.993C>T disease not phenotype-associated
HIFD_KRT18:c.-15C>T commonName c.-15C>T
HIFD_KRT18:c.-15C>T protEffect p.=
HIFD_KRT18:c.-15C>T disease not phenotype-associated
HIFD_KRT18:c.500+38G>A commonName c.500+38G>A
HIFD_KRT18:c.500+38G>A protEffect p.=
HIFD_KRT18:c.500+38G>A disease not phenotype-associated
HIFD_KRT19:c.-99G>C commonName c.-99G>C
HIFD_KRT19:c.-99G>C protEffect p.=
HIFD_KRT19:c.-99G>C disease not phenotype-associated
HIFD_KRT19:c.685G>A commonName c.685G>A
HIFD_KRT19:c.685G>A protEffect p.Val229Met
HIFD_KRT19:c.685G>A disease not phenotype-associated
HIFD_KRT19:c.179C>G commonName c.179C>G
HIFD_KRT19:c.179C>G protEffect p.Ala60Gly
HIFD_KRT19:c.179C>G disease not phenotype-associated
HIFD_KRT19:c.90C>T commonName c.90C>T
HIFD_KRT19:c.90C>T protEffect p.=
HIFD_KRT19:c.90C>T disease not phenotype-associated
HIFD_KRT19:c.471T>C commonName c.471T>C
HIFD_KRT19:c.471T>C protEffect p.=
HIFD_KRT19:c.471T>C disease not phenotype-associated
HIFD_KRT19:c.552C>T commonName c.552C>T
HIFD_KRT19:c.552C>T protEffect p.=
HIFD_KRT19:c.552C>T disease not phenotype-associated
HIFD_KRT31:c.1097+1G>A commonName c.1097+1G>A
HIFD_KRT31:c.1097+1G>A protEffect p.Asn366_Arg416delinsLysX
HIFD_KRT31:c.1097+1G>A disease not phenotype-associated
HIFD_KRT9:c.426A>C commonName c.426A>C
HIFD_KRT9:c.426A>C protEffect p.=
HIFD_KRT9:c.426A>C disease not phenotype-associated
HIFD_KRT9:c.216C>T commonName c.216C>T
HIFD_KRT9:c.216C>T protEffect p.=
HIFD_KRT9:c.216C>T disease not phenotype-associated
HIFD_KRT9:c.429A>C commonName c.429A>C
HIFD_KRT9:c.429A>C protEffect p.=
HIFD_KRT9:c.429A>C disease not phenotype-associated
HIFD_KRT1:c.720G>A commonName c.720G>A
HIFD_KRT1:c.720G>A protEffect p.=
HIFD_KRT1:c.720G>A disease not phenotype-associated
HIFD_KRT1:c.1389C>T commonName c.1389C>T
HIFD_KRT1:c.1389C>T protEffect p.=
HIFD_KRT1:c.1389C>T disease not phenotype-associated
HIFD_KRT1:c.1413C>A commonName c.1413C>A
HIFD_KRT1:c.1413C>A protEffect p.=
HIFD_KRT1:c.1413C>A disease not phenotype-associated
HIFD_KRT1:c.1657_1677del21 commonName c.1657_1677delGGCTCCGGAGGTAGCAGCTAC
HIFD_KRT1:c.1657_1677del21 protEffect p.Gly553_Tyr559del
HIFD_KRT1:c.1657_1677del21 phenoCommon IHCM
HIFD_KRT1:c.1657_1677del21 disease not phenotype-associated
HIFD_KRT1:c.1570_1596del27 commonName c.1570_1596delGGCTACGGCTCTGGAGGTAGCAGCTAT
HIFD_KRT1:c.1570_1596del27 protEffect p.Gly524_Tyr532del
HIFD_KRT1:c.1570_1596del27 disease not phenotype-associated
HIFD_KRT1:c.800G>A commonName c.800G>A
HIFD_KRT1:c.800G>A protEffect p.Arg267Gln
HIFD_KRT1:c.800G>A disease not phenotype-associated
HIFD_KRT1:c.1762G>A commonName c.1762G>A
HIFD_KRT1:c.1762G>A protEffect p.Gly588Arg
HIFD_KRT1:c.1762G>A disease not phenotype-associated
HIFD_KRT1:c.1360G>T commonName c.1360G>T
HIFD_KRT1:c.1360G>T protEffect p.Ala454Ser
HIFD_KRT1:c.1360G>T disease not phenotype-associated
HIFD_KRT1:c.963+52T>G commonName c.963+52T>G
HIFD_KRT1:c.963+52T>G protEffect p.=
HIFD_KRT1:c.963+52T>G disease not phenotype-associated
HIFD_KRT1:c.75C>T commonName c.75C>T
HIFD_KRT1:c.75C>T protEffect p.=
HIFD_KRT1:c.75C>T disease not phenotype-associated
HIFD_KRT1:c.868-31T>C commonName c.868-31T>C
HIFD_KRT1:c.868-31T>C protEffect p.=
HIFD_KRT1:c.868-31T>C disease not phenotype-associated
HIFD_KRT1:c.1072A>T commonName c.1072A>T
HIFD_KRT1:c.1072A>T protEffect p.Asn358Tyr
HIFD_KRT1:c.1072A>T disease not phenotype-associated
HIFD_KRT1:c.720A>G commonName c.720A>G
HIFD_KRT1:c.720A>G protEffect p.=
HIFD_KRT1:c.720A>G disease not phenotype-associated
HIFD_KRT5:c.237A>T commonName c.237A>T
HIFD_KRT5:c.237A>T protEffect p.Arg79Ser
HIFD_KRT5:c.237A>T disease not phenotype-associated
HIFD_KRT5:c.591C>A commonName c.591C>A
HIFD_KRT5:c.591C>A protEffect p.Asp197Glu
HIFD_KRT5:c.591C>A disease not phenotype-associated
HIFD_KRT5:c.1159A>T commonName c.1159A>T
HIFD_KRT5:c.1159A>T protEffect p.Thr387Ser
HIFD_KRT5:c.1159A>T disease not phenotype-associated
HIFD_KRT5:c.240A>T commonName c.240A>T
HIFD_KRT5:c.240A>T protEffect p.=
HIFD_KRT5:c.240A>T disease not phenotype-associated
HIFD_KRT5:c.594C>T commonName c.594C>T
HIFD_KRT5:c.594C>T protEffect p.=
HIFD_KRT5:c.594C>T disease not phenotype-associated
HIFD_KRT5:c.630T>C commonName c.630T>C
HIFD_KRT5:c.630T>C protEffect p.=
HIFD_KRT5:c.630T>C disease not phenotype-associated
HIFD_KRT5:c.382G>C commonName c.382G>C
HIFD_KRT5:c.382G>C protEffect p.Gly128Arg
HIFD_KRT5:c.382G>C disease not phenotype-associated
HIFD_KRT5:c.513G>A commonName c.513G>A
HIFD_KRT5:c.513G>A protEffect p.=
HIFD_KRT5:c.513G>A disease not phenotype-associated
HIFD_KRT5:c.732G>A commonName c.732G>A
HIFD_KRT5:c.732G>A protEffect p.=
HIFD_KRT5:c.732G>A disease not phenotype-associated
HIFD_KRT5:c.1065A>C commonName c.1065A>C
HIFD_KRT5:c.1065A>C protEffect p.=
HIFD_KRT5:c.1065A>C disease not phenotype-associated
HIFD_KRT5:c.1582A>G commonName c.1582A>G
HIFD_KRT5:c.1582A>G protEffect p.Ser528Asp
HIFD_KRT5:c.1582A>G disease not phenotype-associated
HIFD_KRT5:c.1627G>A commonName c.1627G>A
HIFD_KRT5:c.1627G>A protEffect p.Gly543Ser
HIFD_KRT5:c.1627G>A disease not phenotype-associated
HIFD_KRT5:c.1692C>A commonName c.1692C>A
HIFD_KRT5:c.1692C>A protEffect p.=
HIFD_KRT5:c.1692C>A disease not phenotype-associated
HIFD_KRT5:c.1755G>A commonName c.1755G>A
HIFD_KRT5:c.1755G>A protEffect p.=
HIFD_KRT5:c.1755G>A disease not phenotype-associated
HIFD_KRT5:c.555+9C>T commonName c.555+9C>T
HIFD_KRT5:c.555+9C>T protEffect p.=
HIFD_KRT5:c.555+9C>T disease not phenotype-associated
HIFD_KRT5:c.594C>A commonName c.594C>A
HIFD_KRT5:c.594C>A protEffect p.=
HIFD_KRT5:c.594C>A disease not phenotype-associated
HIFD_KRT5:c.548C>T commonName c.548C>T
HIFD_KRT5:c.548C>T protEffect p.Thr183Ile
HIFD_KRT5:c.548C>T disease not phenotype-associated
HIFD_KRT5:c.556-1G>T commonName c.556-1G>T
HIFD_KRT5:c.556-1G>T protEffect p.?
HIFD_KRT5:c.556-1G>T disease not phenotype-associated
HIFD_KRT75:c.481G>A commonName c.481G>A
HIFD_KRT75:c.481G>A protEffect p.Ala161Thr
HIFD_KRT75:c.481G>A phenoCommon PFB
HIFD_KRT75:c.481G>A disease not phenotype-associated
HIFD_KRT8:c.681A>G commonName c.681A>G
HIFD_KRT8:c.681A>G protEffect p.=
HIFD_KRT8:c.681A>G disease not phenotype-associated
HIFD_KRT8:c.216G>A commonName c.216G>A
HIFD_KRT8:c.216G>A protEffect p.=
HIFD_KRT8:c.216G>A disease not phenotype-associated
HIFD_KRT8:c.955G>T commonName c.955G>T
HIFD_KRT8:c.955G>T protEffect p.Ala319Ser
HIFD_KRT8:c.955G>T disease not phenotype-associated
HIFD_KRT8:c.*8C>T commonName c.*8C>T
HIFD_KRT8:c.*8C>T protEffect p.=
HIFD_KRT8:c.*8C>T disease not phenotype-associated
HIFD_KRT8:c.*31C>T commonName c.*31C>T
HIFD_KRT8:c.*31C>T protEffect p.=
HIFD_KRT8:c.*31C>T disease not phenotype-associated
HIFD_KRT8:c.*38G>A commonName c.*38G>A
HIFD_KRT8:c.*38G>A protEffect p.=
HIFD_KRT8:c.*38G>A disease not phenotype-associated
HIFD_KRT8:c.1261+10delC commonName c.1261+10delC
HIFD_KRT8:c.1261+10delC protEffect p.=
HIFD_KRT8:c.1261+10delC disease not phenotype-associated
HIFD_KRT8:c.1261+20G>A commonName c.1261+20G>A
HIFD_KRT8:c.1261+20G>A protEffect p.=
HIFD_KRT8:c.1261+20G>A disease not phenotype-associated
HIFD_KRT81:c.1053T>C commonName c.1053T>C
HIFD_KRT81:c.1053T>C protEffect p.=
HIFD_KRT81:c.1053T>C disease not phenotype-associated
HIFD_KRT81:c.1077A>G commonName c.1077A>G
HIFD_KRT81:c.1077A>G protEffect p.=
HIFD_KRT81:c.1077A>G disease not phenotype-associated
HIFD_KRT81:c.1027-13_1027-14insT commonName c.1027-13_1027-14insT
HIFD_KRT81:c.1027-13_1027-14insT protEffect p.=
HIFD_KRT81:c.1027-13_1027-14insT disease not phenotype-associated
HIFD_KRT81:c.735+4C>T commonName c.735+4C>T
HIFD_KRT81:c.735+4C>T protEffect p.=
HIFD_KRT81:c.735+4C>T disease not phenotype-associated
HIFD_KRT83:c.445T>C commonName c.445T>C
HIFD_KRT83:c.445T>C protEffect p.Cys149Arg
HIFD_KRT83:c.445T>C disease not phenotype-associated
HIFD_KRT83:c.558C>T commonName c.558C>T
HIFD_KRT83:c.558C>T protEffect p.=
HIFD_KRT83:c.558C>T disease not phenotype-associated
HIFD_KRT86:c.197G>A commonName c.197G>A
HIFD_KRT86:c.197G>A protEffect p.Arg66His
HIFD_KRT86:c.197G>A disease not phenotype-associated
HIFD_KRT86:c.348G>A commonName c.348G>A
HIFD_KRT86:c.348G>A protEffect p.=
HIFD_KRT86:c.348G>A disease not phenotype-associated
HIFD_KRT86:c.416A>C commonName c.416A>C
HIFD_KRT86:c.416A>C protEffect p.Gln139Pro
HIFD_KRT86:c.416A>C disease not phenotype-associated
HIFD_GFAP:c.-518T>A commonName c.-518T>A
HIFD_GFAP:c.-518T>A protEffect p.=
HIFD_GFAP:c.-518T>A disease not phenotype-associated
HIFD_GFAP:c.-264C>A commonName c.-264C>A
HIFD_GFAP:c.-264C>A protEffect p.=
HIFD_GFAP:c.-264C>A disease not phenotype-associated
HIFD_GFAP:c.858G>A commonName c.858G>A
HIFD_GFAP:c.858G>A protEffect p.=
HIFD_GFAP:c.858G>A disease not phenotype-associated
HIFD_GFAP:c.883G>A commonName c.883G>A
HIFD_GFAP:c.883G>A protEffect p.Asp295Asn
HIFD_GFAP:c.883G>A disease not phenotype-associated
HIFD_GFAP:c.140C>T commonName c.140C>T
HIFD_GFAP:c.140C>T protEffect p.Pro47Leu
HIFD_GFAP:c.140C>T disease not phenotype-associated
HIFD_GFAP:c.619-12C>T commonName c.619-12C>T
HIFD_GFAP:c.619-12C>T protEffect p.?
HIFD_GFAP:c.619-12C>T disease not phenotype-associated
HIFD_GFAP:c.523-9C>G commonName c.523-9C>G
HIFD_GFAP:c.523-9C>G protEffect p.?
HIFD_GFAP:c.523-9C>G disease not phenotype-associated
HIFD_GFAP:c.1128-66C>G commonName c.1128-66C>G
HIFD_GFAP:c.1128-66C>G protEffect p.=
HIFD_GFAP:c.1128-66C>G disease not phenotype-associated
HIFD_GFAP:c.96T>C commonName c.96T>C
HIFD_GFAP:c.96T>C protEffect p.=
HIFD_GFAP:c.96T>C disease not phenotype-associated
HIFD_GFAP:c.907-100A>C commonName c.907-100A>C
HIFD_GFAP:c.907-100A>C protEffect p.=
HIFD_GFAP:c.907-100A>C disease not phenotype-associated
HIFD_GFAP:c.1258-86C>T commonName c.1258-86C>T
HIFD_GFAP:c.1258-86C>T protEffect p.=
HIFD_GFAP:c.1258-86C>T disease not phenotype-associated
HIFD_GFAP:c.*28C>G commonName c.*28C>G
HIFD_GFAP:c.*28C>G protEffect p.=
HIFD_GFAP:c.*28C>G disease not phenotype-associated
HIFD_GFAP:c.*33C>G commonName c.*33C>G
HIFD_GFAP:c.*33C>G protEffect p.=
HIFD_GFAP:c.*33C>G disease not phenotype-associated
HIFD_GFAP:c.619-96G>T commonName c.619-96G>T
HIFD_GFAP:c.619-96G>T protEffect p.=
HIFD_GFAP:c.619-96G>T disease not phenotype-associated
HIFD_GFAP:c.781-826G>A commonName c.781-826G>A
HIFD_GFAP:c.781-826G>A protEffect p.=
HIFD_GFAP:c.781-826G>A disease not phenotype-associated
HIFD_GFAP:c.1128-151C>T commonName c.1128-151C>T
HIFD_GFAP:c.1128-151C>T protEffect p.=
HIFD_GFAP:c.1128-151C>T disease not phenotype-associated
HIFD_GFAP:c.1171+471C>T commonName c.1171+471C>T
HIFD_GFAP:c.1171+471C>T protEffect p.=
HIFD_GFAP:c.1171+471C>T disease not phenotype-associated
HIFD_GFAP:c.1171+501C>A commonName c.1171+501C>A
HIFD_GFAP:c.1171+501C>A protEffect p.=
HIFD_GFAP:c.1171+501C>A disease not phenotype-associated
HIFD_GFAP:c.1172-306A>G commonName c.1172-306A>G
HIFD_GFAP:c.1172-306A>G protEffect p.=
HIFD_GFAP:c.1172-306A>G disease not phenotype-associated
HIFD_GFAP:c.523-76G>C commonName c.523-76G>C
HIFD_GFAP:c.523-76G>C protEffect p.=
HIFD_GFAP:c.523-76G>C disease not phenotype-associated
HIFD_GFAP:c.906+81A>G commonName c.906+81A>G
HIFD_GFAP:c.906+81A>G protEffect p.=
HIFD_GFAP:c.906+81A>G disease not phenotype-associated
HIFD_GFAP:c.*32C>G commonName c.*32C>G
HIFD_GFAP:c.*32C>G protEffect p.=
HIFD_GFAP:c.*32C>G disease not phenotype-associated
HIFD_PRPH:c.26G>A commonName c.26G>A
HIFD_PRPH:c.26G>A protEffect p.Arg9Gln
HIFD_PRPH:c.26G>A disease not phenotype-associated
HIFD_PRPH:c.63C>T commonName c.63C>T
HIFD_PRPH:c.63C>T protEffect p.=
HIFD_PRPH:c.63C>T disease not phenotype-associated
HIFD_PRPH:c.829G>A commonName c.829G>A
HIFD_PRPH:c.829G>A protEffect p.Ala276Thr
HIFD_PRPH:c.829G>A disease not phenotype-associated
HIFD_PRPH:c.1083C>G commonName c.1083C>G
HIFD_PRPH:c.1083C>G protEffect p.=
HIFD_PRPH:c.1083C>G disease not phenotype-associated
HIFD_PRPH:c.1108A>G commonName c.1108A>G
HIFD_PRPH:c.1108A>G protEffect p.=
HIFD_PRPH:c.1108A>G disease not phenotype-associated
HIFD_PRPH:c.-23G>C commonName c.-23G>C
HIFD_PRPH:c.-23G>C protEffect p.=
HIFD_PRPH:c.-23G>C disease not phenotype-associated
HIFD_PRPH:c.545+69G>C commonName c.545+69G>C
HIFD_PRPH:c.545+69G>C protEffect p.=
HIFD_PRPH:c.545+69G>C disease not phenotype-associated
HIFD_PRPH:c.607-77A>C commonName c.607-77A>C
HIFD_PRPH:c.607-77A>C protEffect p.=
HIFD_PRPH:c.607-77A>C disease not phenotype-associated
HIFD_PRPH:c.1217+27C>A commonName c.1217+27C>A
HIFD_PRPH:c.1217+27C>A protEffect p.=
HIFD_PRPH:c.1217+27C>A disease not phenotype-associated
HIFD_PRPH:c.1217+43C>A commonName c.1217+43C>A
HIFD_PRPH:c.1217+43C>A protEffect p.=
HIFD_PRPH:c.1217+43C>A disease not phenotype-associated
HIFD_PRPH:c.1267+58T>C commonName c.1267+58T>C
HIFD_PRPH:c.1267+58T>C protEffect p.=
HIFD_PRPH:c.1267+58T>C disease not phenotype-associated
HIFD_PRPH:c.1348-36_1348-35insA commonName c.1348-36_1348-35insA
HIFD_PRPH:c.1348-36_1348-35insA protEffect p.=
HIFD_PRPH:c.1348-36_1348-35insA disease not phenotype-associated
HIFD_PRPH:c.702+27T>C commonName c.702+27T>C
HIFD_PRPH:c.702+27T>C protEffect p.=
HIFD_PRPH:c.702+27T>C disease not phenotype-associated
HIFD_PRPH:c.606+52T>G commonName c.606+52T>G
HIFD_PRPH:c.606+52T>G protEffect p.=
HIFD_PRPH:c.606+52T>G disease not phenotype-associated
HIFD_PRPH:c.1107A>G commonName c.1107A>G
HIFD_PRPH:c.1107A>G protEffect p.=
HIFD_PRPH:c.1107A>G disease not phenotype-associated
HIFD_PRPH:c.*82C>A commonName c.*82C>A
HIFD_PRPH:c.*82C>A protEffect p.=
HIFD_PRPH:c.*82C>A disease not phenotype-associated
HIFD_NEF3:c.387T>G commonName c.387T>G
HIFD_NEF3:c.387T>G protEffect p.Ile129Met
HIFD_NEF3:c.387T>G disease not phenotype-associated
HIFD_NEF3:c.1104T>C commonName c.1104T>C
HIFD_NEF3:c.1104T>C protEffect p.=
HIFD_NEF3:c.1104T>C disease not phenotype-associated
HIFD_NEF3:c.1420A>G commonName c.1420A>G
HIFD_NEF3:c.1420A>G protEffect p.Thr474Ala
HIFD_NEF3:c.1420A>G disease not phenotype-associated
HIFD_NEF3:c.447G>C commonName c.447G>C
HIFD_NEF3:c.447G>C protEffect p.=
HIFD_NEF3:c.447G>C disease not phenotype-associated
HIFD_NEF3:c.1423G>A phenoCommon PD
HIFD_NEF3:c.2089G>C phenoCommon PD
HIFD_NEF3:c.2174C>A commonName c.2174C>A
HIFD_NEF3:c.2174C>A protEffect p.Pro725Gln
HIFD_NEF3:c.2174C>A phenoCommon PD
HIFD_NEF3:c.2174C>A disease not phenotype-associated
HIFD_NEF3:c.2485_2487delGTT commonName c.2485_2487delGTT
HIFD_NEF3:c.2485_2487delGTT protEffect p.Val829del
HIFD_NEF3:c.2485_2487delGTT phenoCommon PD
HIFD_NEF3:c.2485_2487delGTT disease not phenotype-associated
HIFD_NEFH:c.1844C>T commonName c.1844C>T
HIFD_NEFH:c.1844C>T protEffect p.Pro615Leu
HIFD_NEFH:c.1844C>T disease not phenotype-associated
HIFD_NEFH:c.472C>T commonName c.472C>T
HIFD_NEFH:c.472C>T protEffect p.=
HIFD_NEFH:c.472C>T disease not phenotype-associated
HIFD_NEFH:c.1203T>C commonName c.1203T>C
HIFD_NEFH:c.1203T>C protEffect p.=
HIFD_NEFH:c.1203T>C disease not phenotype-associated
HIFD_NEFH:c.2414C>A commonName c.2414C>A
HIFD_NEFH:c.2414C>A protEffect p.Ala805Glu
HIFD_NEFH:c.2414C>A disease not phenotype-associated
HIFD_NEFH:c.1375G>A commonName c.1375G>A
HIFD_NEFH:c.1375G>A protEffect p.Glu459Lys
HIFD_NEFH:c.1375G>A disease not phenotype-associated
HIFD_NEFH:c.1387G>A commonName c.1387G>A
HIFD_NEFH:c.1387G>A protEffect p.Glu463Lys
HIFD_NEFH:c.1387G>A phenoCommon NIFID
HIFD_NEFH:c.1387G>A disease not phenotype-associated
HIFD_NEFH:c.1844C>T phenoCommon NIFID
HIFD_NEFH:c.2232C>T commonName c.2232C>T
HIFD_NEFH:c.2232C>T protEffect p.=
HIFD_NEFH:c.2232C>T phenoCommon NIFID
HIFD_NEFH:c.2232C>T disease not phenotype-associated
HIFD_NEFH:c.2234A>T commonName c.2234A>T
HIFD_NEFH:c.2234A>T protEffect p.Lys745Met
HIFD_NEFH:c.2234A>T phenoCommon NIFID
HIFD_NEFH:c.2234A>T disease not phenotype-associated
HIFD_NEFH:c.2414A>C commonName c.2414A>C
HIFD_NEFH:c.2414A>C protEffect p.Glu805Ala
HIFD_NEFH:c.2414A>C phenoCommon NIFID
HIFD_NEFH:c.2414A>C disease not phenotype-associated
HIFD_NEFH:c.2784A>G commonName c.2784A>G
HIFD_NEFH:c.2784A>G protEffect p.=
HIFD_NEFH:c.2784A>G phenoCommon NIFID
HIFD_NEFH:c.2784A>G disease not phenotype-associated
HIFD_NEFL:c.667C>T commonName c.667C>T
HIFD_NEFL:c.667C>T protEffect p.=
HIFD_NEFL:c.667C>T disease not phenotype-associated
HIFD_NEFL:c.1492G>A commonName c.1492G>A
HIFD_NEFL:c.1492G>A protEffect p.Ala498Thr
HIFD_NEFL:c.1492G>A disease not phenotype-associated
HIFD_NEFL:c.227T>C commonName c.227T>C
HIFD_NEFL:c.227T>C protEffect p.Val76Ala
HIFD_NEFL:c.227T>C disease not phenotype-associated
HIFD_NEFL:c.279G>A commonName c.279G>A
HIFD_NEFL:c.279G>A protEffect p.=
HIFD_NEFL:c.279G>A disease not phenotype-associated
HIFD_NEFL:c.-44_-42delGGCinsATG commonName c.-44_-42delGGCinsATG
HIFD_NEFL:c.-44_-42delGGCinsATG protEffect p.=
HIFD_NEFL:c.-44_-42delGGCinsATG disease not phenotype-associated
HIFD_NEFL:c.189G>A commonName c.189G>A
HIFD_NEFL:c.189G>A protEffect p.=
HIFD_NEFL:c.189G>A disease not phenotype-associated
HIFD_NEFL:c.123C>T commonName c.123C>T
HIFD_NEFL:c.123C>T protEffect p.=
HIFD_NEFL:c.123C>T disease not phenotype-associated
HIFD_NEFL:c.1212C>T commonName c.1212C>T
HIFD_NEFL:c.1212C>T protEffect p.=
HIFD_NEFL:c.1212C>T disease not phenotype-associated
HIFD_NEFL:c.1458C>T commonName c.1458C>T
HIFD_NEFL:c.1458C>T protEffect p.=
HIFD_NEFL:c.1458C>T disease not phenotype-associated
HIFD_NEFL:c.720C>T commonName c.720C>T
HIFD_NEFL:c.720C>T protEffect p.=
HIFD_NEFL:c.720C>T disease not phenotype-associated
HIFD_NEFL:c.423G>A commonName c.423G>A
HIFD_NEFL:c.423G>A protEffect p.=
HIFD_NEFL:c.423G>A disease not phenotype-associated
HIFD_NEFL:c.1045-23_1045-22insT commonName c.1045-23_1045-22insT
HIFD_NEFL:c.1045-23_1045-22insT protEffect p.?
HIFD_NEFL:c.1045-23_1045-22insT disease not phenotype-associated
HIFD_NEFL:c.45G>A commonName c.45G>A
HIFD_NEFL:c.45G>A protEffect p.=
HIFD_NEFL:c.45G>A disease not phenotype-associated
HIFD_NEFL:c.969G>T commonName c.969G>T
HIFD_NEFL:c.969G>T protEffect p.=
HIFD_NEFL:c.969G>T disease not phenotype-associated
HIFD_NEFL:c.1560C>A commonName c.1560C>A
HIFD_NEFL:c.1560C>A protEffect p.=
HIFD_NEFL:c.1560C>A disease not phenotype-associated
HIFD_NEFL:c.-48_-47delTC commonName c.-48_-47delTC
HIFD_NEFL:c.-48_-47delTC protEffect p.=
HIFD_NEFL:c.-48_-47delTC disease not phenotype-associated
HIFD_NEFL:c.1590T>G commonName c.1590T>G
HIFD_NEFL:c.1590T>G protEffect p.=
HIFD_NEFL:c.1590T>G disease not phenotype-associated
HIFD_NEFL:c.1329C>A commonName c.1329C>A
HIFD_NEFL:c.1329C>A protEffect p.=
HIFD_NEFL:c.1329C>A disease not phenotype-associated
HIFD_NEFL:c.227T>A commonName c.227T>A
HIFD_NEFL:c.227T>A protEffect p.Val76Ala
HIFD_NEFL:c.227T>A disease not phenotype-associated
HIFD_LMNA:c.51C>T commonName c.51C>T
HIFD_LMNA:c.51C>T protEffect p.=
HIFD_LMNA:c.51C>T disease not phenotype-associated
HIFD_LMNA:c.861T>C commonName c.861T>C
HIFD_LMNA:c.861T>C protEffect p.=
HIFD_LMNA:c.861T>C disease not phenotype-associated
HIFD_LMNA:c.1338T>C commonName c.1338T>C
HIFD_LMNA:c.1338T>C protEffect p.=
HIFD_LMNA:c.1338T>C disease not phenotype-associated
HIFD_LMNA:c.810+13G>T commonName c.810+13G>T
HIFD_LMNA:c.810+13G>T protEffect p.?
HIFD_LMNA:c.810+13G>T disease not phenotype-associated
HIFD_LMNA:c.1489-41C>T commonName c.1489-41C>T
HIFD_LMNA:c.1489-41C>T protEffect p.?
HIFD_LMNA:c.1489-41C>T disease not phenotype-associated
HIFD_LMNA:c.1609-5A>G commonName c.1609-5A>G
HIFD_LMNA:c.1609-5A>G protEffect p.?
HIFD_LMNA:c.1609-5A>G disease not phenotype-associated
HIFD_LMNA:c.1908C>T commonName c.1908C>T
HIFD_LMNA:c.1908C>T protEffect p.=
HIFD_LMNA:c.1908C>T disease not phenotype-associated
HIFD_LMNA:c.1157+16G>A commonName c.1157+16G>A
HIFD_LMNA:c.1157+16G>A protEffect p.?
HIFD_LMNA:c.1157+16G>A phenoCommon MADA
HIFD_LMNA:c.1157+16G>A disease not phenotype-associated
HIFD_LMNA:c.1028G>A commonName c.1028G>A
HIFD_LMNA:c.1028G>A protEffect p.Arg343Gln
HIFD_LMNA:c.1028G>A disease not phenotype-associated
HIFD_LMNA:c.723G>A commonName c.723G>A
HIFD_LMNA:c.723G>A protEffect p.=
HIFD_LMNA:c.723G>A disease not phenotype-associated
HIFD_LMNA:c.810+61C>T commonName c.810+61C>T
HIFD_LMNA:c.810+61C>T protEffect p.?
HIFD_LMNA:c.810+61C>T disease not phenotype-associated
HIFD_LMNA:c.1489-41C>T phenoCommon MADA
HIFD_LMNA:c.1098G>A commonName c.1098G>A
HIFD_LMNA:c.1098G>A protEffect p.=
HIFD_LMNA:c.1098G>A disease not phenotype-associated
HIFD_LMNA:c.1299C>T commonName c.1299C>T
HIFD_LMNA:c.1299C>T protEffect p.=
HIFD_LMNA:c.1299C>T disease not phenotype-associated
HIFD_LMNA:c.612G>A commonName c.612G>A
HIFD_LMNA:c.612G>A protEffect p.=
HIFD_LMNA:c.612G>A disease not phenotype-associated
HIFD_LMNA:c.1338T>C phenoCommon WRN
HIFD_LMNA:c.*79G>C commonName c.*79G>C
HIFD_LMNA:c.*79G>C protEffect p.=
HIFD_LMNA:c.*79G>C disease not phenotype-associated
HIFD_LMNA:c.937-7C>G commonName c.937-7C>G
HIFD_LMNA:c.937-7C>G protEffect p.?
HIFD_LMNA:c.937-7C>G disease not phenotype-associated
HIFD_LMNA:c.357-20C>T commonName c.357-20C>T
HIFD_LMNA:c.357-20C>T protEffect p.?
HIFD_LMNA:c.357-20C>T disease not phenotype-associated
HIFD_LMNA:c.811-13T>A commonName c.811-13T>A
HIFD_LMNA:c.811-13T>A protEffect p.?
HIFD_LMNA:c.811-13T>A disease not phenotype-associated
HIFD_LMNA:c.1968+26A>G commonName c.1968+26A>G
HIFD_LMNA:c.1968+26A>G protEffect p.?
HIFD_LMNA:c.1968+26A>G disease not phenotype-associated
HIFD_LMNA:c.*27G>A commonName c.*27G>A
HIFD_LMNA:c.*27G>A protEffect p.?
HIFD_LMNA:c.*27G>A disease not phenotype-associated
HIFD_LMNA:c.1381-8C>G commonName c.1381-8C>G
HIFD_LMNA:c.1381-8C>G protEffect p.?
HIFD_LMNA:c.1381-8C>G disease not phenotype-associated
HIFD_LMNA:c.896T>C commonName c.896T>C
HIFD_LMNA:c.896T>C protEffect p.Ile299Thr
HIFD_LMNA:c.896T>C disease not phenotype-associated
HIFD_LMNA:c.640-10A>C commonName c.640-10A>C
HIFD_LMNA:c.640-10A>C protEffect p.?
HIFD_LMNA:c.640-10A>C disease not phenotype-associated
HIFD_LMNA:c.811-10T>A commonName c.811-10T>A
HIFD_LMNA:c.811-10T>A protEffect p.?
HIFD_LMNA:c.811-10T>A disease not phenotype-associated
HIFD_LMNA:c.1158-38G>A commonName c.1158-38G>A
HIFD_LMNA:c.1158-38G>A protEffect p.?
HIFD_LMNA:c.1158-38G>A disease not phenotype-associated
HIFD_LMNB1:c.414T>C commonName c.414T>C
HIFD_LMNB1:c.414T>C protEffect p.=
HIFD_LMNB1:c.414T>C disease not phenotype-associated
HIFD_LMNB1:c.852T>C commonName c.852T>C
HIFD_LMNB1:c.852T>C protEffect p.=
HIFD_LMNB1:c.852T>C disease not phenotype-associated
HIFD_LMNB1:c.1502C>T commonName c.1502C>T
HIFD_LMNB1:c.1502C>T protEffect p.Ala501Val
HIFD_LMNB1:c.1502C>T disease not phenotype-associated
HIFD_LMNB1:c.*18C>T commonName c.*18C>T
HIFD_LMNB1:c.*18C>T protEffect p.=
HIFD_LMNB1:c.*18C>T disease not phenotype-associated
HIFD_LMNB1:c.*43C>T commonName c.*43C>T
HIFD_LMNB1:c.*43C>T protEffect p.=
HIFD_LMNB1:c.*43C>T disease not phenotype-associated
HIFD_LMNB2:c.82G>A commonName c.82G>A
HIFD_LMNB2:c.82G>A protEffect p.=
HIFD_LMNB2:c.82G>A disease not phenotype-associated
TP53_g.12512G>A commonName G>A
TP53_g.12512G>A protEffect p.Arg175His
TP53_g.12416T>C commonName T>C
TP53_g.12416T>C protEffect p.Val143Ala
TP53_g.12382A>C commonName A>C
TP53_g.12382A>C protEffect p.Lys132Gln
TP53_g.13833G>A commonName G>A
TP53_g.13833G>A protEffect p.Glu285Lys
TP53_g.13384G>C commonName G>C
TP53_g.13384G>C protEffect p.Arg249Ser
TP53_g.13819G>A commonName G>A
TP53_g.13819G>A protEffect p.Arg280Lys
TP53_g.12457G>T commonName G>T
TP53_g.12457G>T protEffect p.Val157Phe
TP53_g.13384G>T commonName G>T
TP53_g.13384G>T protEffect p.Arg249Ser
TP53_g.13836_13843del commonName del8
TP53_g.13798G>A commonName G>A
TP53_g.13798G>A protEffect p.Arg273His
TP53_g.12443C>T commonName C>T
TP53_g.12443C>T protEffect p.Pro152Leu
TP53_g.12515G>T commonName G>T
TP53_g.12515G>T protEffect p.Cys176Phe
TP53_g.12451A>G commonName A>G
TP53_g.12451A>G protEffect p.Thr155Ala
TP53_g.13359C>T commonName C>T
TP53_g.13359C>T protEffect p.Ser241Phe
TP53_g.13380G>A commonName G>A
TP53_g.13380G>A protEffect p.Arg248Gln
TP53_g.12439del commonName del1
TP53_g.12523C>A commonName C>A
TP53_g.12523C>A protEffect p.His179Asn
TP53_g.13382A>G commonName A>G
TP53_g.13382A>G protEffect p.Arg249Gly
TP53_g.12650T>G commonName T>G
TP53_g.12650T>G protEffect p.Leu194Arg
TP53_g.13373A>G commonName A>G
TP53_g.13373A>G protEffect p.Met246Val
TP53_g.13826G>A commonName G>A
TP53_g.13826G>A protEffect p.Arg282Arg
TP53_g.13827del commonName del1
TP53_g.13794G>A commonName G>A
TP53_g.13794G>A protEffect p.Val272Met
TP53_g.12655C>T commonName C>T
TP53_g.12655C>T protEffect p.Arg196STOP
TP53_g.12727T>C commonName T>C
TP53_g.12727T>C protEffect p.Tyr220His
TP53_g.12444G>A commonName G>A
TP53_g.12444G>A protEffect p.Pro152Pro
TP53_g.13820A>T commonName A>T
TP53_g.13820A>T protEffect p.Arg280Ser
TP53_g.13810G>A commonName G>A
TP53_g.13810G>A protEffect p.Cys277Tyr
TP53_g.12523C>T commonName C>T
TP53_g.12523C>T protEffect p.His179Tyr
TP53_g.12410G>A commonName G>A
TP53_g.12410G>A protEffect p.Cys141Tyr
TP53_g.13353A>G commonName A>G
TP53_g.13353A>G protEffect p.Asn239Ser
TP53_g.13379C>T commonName C>T
TP53_g.13379C>T protEffect p.Arg248Trp
TP53_g.12384_12385delinsCT commonName GA>CT
TP53_g.12384_12385delinsCT protEffect K132N;M133L]
TP53_g.13822A>G commonName A>G
TP53_g.13822A>G protEffect p.Asp281Gly
TP53_g.13797C>T commonName C>T
TP53_g.13797C>T protEffect p.Arg273Cys
TP53_g.12715G>A commonName G>A
TP53_g.12715G>A protEffect p.Val216Met
TP53_g.12390T>A commonName T>A
TP53_g.12390T>A protEffect p.Phe134Leu
TP53_g.13997C>T commonName C>T
TP53_g.13997C>T protEffect p.Pro309Ser
TP53_g.13857del commonName del1
TP53_g.12649C>T commonName C>T
TP53_g.12649C>T protEffect p.Leu194Phe
TP53_g.12490_12520del commonName del31
TP53_g.12511C>A commonName C>A
TP53_g.12511C>A protEffect p.Arg175Ser
TP53_g.13367G>A commonName G>A
TP53_g.13367G>A protEffect p.Gly244Ser
TP53_g.11559C>T commonName C>T
TP53_g.11559C>T protEffect p.Arg110Cys
TP53_g.17950del commonName del1
TP53_g.12401C>T commonName C>T
TP53_g.12401C>T protEffect p.Ala138Val
TP53_g.13824C>T commonName C>T
TP53_g.13824C>T protEffect p.Arg282Trp
TP53_g.12374C>A commonName C>A
TP53_g.12374C>A protEffect p.Ala129Asp
TP53_g.12462C>T commonName C>T
TP53_g.12462C>T protEffect p.Arg158Arg
TP53_g.13791G>A commonName G>A
TP53_g.13791G>A protEffect p.Glu271Lys
TP53_g.13352A>G commonName A>G
TP53_g.13352A>G protEffect p.Asn239Asp
TP53_g.12412del commonName del1
TP53_g.12511C>G commonName C>G
TP53_g.12511C>G protEffect p.Arg175Gly
TP53_g.11490_11497del commonName del8
TP53_g.13324T>A commonName T>A
TP53_g.13324T>A protEffect p.Cys229STOP
TP53_g.13348G>A commonName G>A
TP53_g.13348G>A protEffect p.Met237Ile
TP53_g.12647A>G commonName A>G
TP53_g.12647A>G protEffect p.His193Arg
TP53_g.13810G>T commonName G>T
TP53_g.13810G>T protEffect p.Cys277Phe
TP53_g.12449G>T commonName G>T
TP53_g.12449G>T protEffect p.Gly154Val
TP53_g.12505G>T commonName G>T
TP53_g.12505G>T protEffect p.Val173Leu
TP53_g.12686del commonName del1
TP53_g.12706C>T commonName C>T
TP53_g.12706C>T protEffect p.Arg213STOP
TP53_g.12515G>A commonName G>A
TP53_g.12515G>A protEffect p.Cys176Tyr
TP53_g.30017_30018ins25 commonName ins25
TP53_g.12683A>G commonName A>G
TP53_g.12683A>G protEffect p.Tyr205Cys
TP53_g.13823C>G commonName C>G
TP53_g.13823C>G protEffect p.Asp281Glu
TP53_g.12518C>G commonName C>G
TP53_g.12518C>G protEffect p.Pro177Arg
TP53_g.13332T>G commonName T>G
TP53_g.13332T>G protEffect p.Ile232Ser
TP53_g.12443_12444ins1 commonName ins1
TP53_g.13803_13804ins1 commonName ins1
TP53_g.12506T>G commonName T>G
TP53_g.12506T>G protEffect p.Val173Gly
TP53_g.12386T>A commonName T>A
TP53_g.12386T>A protEffect p.Met133Lys
TP53_g.13409G>A commonName G>A
TP53_g.13409G>A protEffect p.Glu258Lys
TP53_g.12716T>A commonName T>A
TP53_g.12716T>A protEffect p.Val216Glu
TP53_g.13344A>G commonName A>G
TP53_g.13344A>G protEffect p.Tyr236Cys
TP53_g.12419A>C commonName A>C
TP53_g.12419A>C protEffect p.Gln144Pro
TP53_g.13338A>G commonName A>G
TP53_g.13338A>G protEffect p.Tyr234Cys
TP53_g.30015_30029del commonName del15
TP53_g.13350G>A commonName G>A
TP53_g.13350G>A protEffect p.Cys238Tyr
TP53_g.12475T>C commonName T>C
TP53_g.12475T>C protEffect p.Tyr163His
TP53_g.13839G>T commonName G>T
TP53_g.13839G>T protEffect p.Glu287STOP
TP53_g.13397_13398delinsGA commonName AT>GA
TP53_g.13397_13398delinsGA protEffect p.Ile254Asp
TP53_g.14045_14058del commonName del14
TP53_g.12461G>A commonName G>A
TP53_g.12461G>A protEffect p.Arg158His
TP53_g.12707G>A commonName G>A
TP53_g.12707G>A protEffect p.Arg213Gln
TP53_g.13337T>C commonName T>C
TP53_g.13337T>C protEffect p.Tyr234His
TP53_g.13403A>G commonName A>G
TP53_g.13403A>G protEffect p.Thr256Ala
TP53_g.13413A>G commonName A>G
TP53_g.13413A>G protEffect p.Asp259Gly
TP53_g.13415T>G commonName T>G
TP53_g.13415T>G protEffect p.Ser260Ala
TP53_g.13347T>G commonName T>G
TP53_g.13347T>G protEffect p.Met237Arg
TP53_g.13367G>T commonName G>T
TP53_g.13367G>T protEffect p.Gly244Cys
TP53_g.13359C>G commonName C>G
TP53_g.13359C>G protEffect p.Ser241Cys
TP53_g.13371G>C commonName G>C
TP53_g.13371G>C protEffect p.Gly245Ala
TP53_g.13872G>T commonName G>T
TP53_g.13872G>T protEffect p.Glu298STOP
TP53_g.12536C>G commonName C>G
TP53_g.12536C>G protEffect p.Ser183STOP
TP53_g.13343_13366del commonName del24
TP53_g.13827C>T commonName C>T
TP53_g.13827C>T protEffect p.Arg283Cys
TP53_g.12728A>G commonName A>G
TP53_g.12728A>G protEffect p.Tyr220Cys
TP53_g.13836G>A commonName G>A
TP53_g.13836G>A protEffect p.Glu286Lys
TP53_g.12392G>A commonName G>A
TP53_g.12392G>A protEffect p.Cys135Tyr
TP53_g.12700A>G commonName A>G
TP53_g.12700A>G protEffect p.Thr211Ala
TP53_g.13361T>C commonName T>C
TP53_g.13361T>C protEffect p.Cys242Arg
TP53_g.12439C>T commonName C>T
TP53_g.12439C>T protEffect p.Pro151Ser
TP53_g.13338A>C commonName A>C
TP53_g.13338A>C protEffect p.Tyr234Ser
TP53_g.12505G>C commonName G>C
TP53_g.12505G>C protEffect p.Val173Leu
TP53_g.12384G>C commonName G>C
TP53_g.12384G>C protEffect p.Lys132Asn
TP53_g.12405G>C commonName G>C
TP53_g.12405G>C protEffect p.Lys139Asn
TP53_g.12400_12417del commonName del18
TP53_g.13348G>T commonName G>T
TP53_g.13348G>T protEffect p.Met237Ile
TP53_g.12455G>C commonName G>C
TP53_g.12455G>C protEffect p.Arg156Pro
TP53_g.13764_13787del commonName del24
TP53_g.13798G>T commonName G>T
TP53_g.13798G>T protEffect p.Arg273Leu
TP53_g.13377A>T commonName A>T
TP53_g.13377A>T protEffect p.Asn247Ile
TP53_g.12384G>T commonName G>T
TP53_g.12384G>T protEffect p.Lys132Asn
TP53_g.13828G>C commonName G>C
TP53_g.13828G>C protEffect p.Arg283Pro
TP53_g.13777G>T commonName G>T
TP53_g.13777G>T protEffect p.Gly266Val
TP53_g.13308A>T commonName A>T
TP53_g.13798G>C commonName G>C
TP53_g.13798G>C protEffect p.Arg273Pro
TP53_g.12464C>T commonName C>T
TP53_g.12464C>T protEffect p.Ala159Val
TP53_g.12525T>G commonName T>G
TP53_g.12525T>G protEffect p.His179Gln
TP53_g.13375G>C commonName G>C
TP53_g.13375G>C protEffect p.Met246Ile
TP53_g.13362G>C commonName G>C
TP53_g.13362G>C protEffect p.Cys242Ser
TP53_g.13371G>T commonName G>T
TP53_g.13371G>T protEffect p.Gly245Val
TP53_g.13812C>T commonName C>T
TP53_g.13812C>T protEffect p.Pro278Ser
TP53_g.12643C>T commonName C>T
TP53_g.12643C>T protEffect p.Gln192STOP
TP53_g.13813C>T commonName C>T
TP53_g.13813C>T protEffect p.Pro278Leu
TP53_g.12514T>A commonName T>A
TP53_g.12514T>A protEffect p.Cys176Ser
TP53_g.12422T>A commonName T>A
TP53_g.12422T>A protEffect p.Leu145Gln
TP53_g.12499G>T commonName G>T
TP53_g.12499G>T protEffect p.Glu171STOP
TP53_g.12646C>T commonName C>T
TP53_g.12646C>T protEffect p.His193Tyr
TP53_g.13893A>T commonName A>T
TP53_g.13893A>T protEffect p.Lys305STOP
TP53_g.12524A>T commonName A>T
TP53_g.12524A>T protEffect p.His179Leu
TP53_g.12418C>T commonName C>T
TP53_g.12418C>T protEffect p.Gln144STOP
TP53_g.13789T>G commonName T>G
TP53_g.13789T>G protEffect p.Phe270Cys
TP53_g.13370G>A commonName G>A
TP53_g.13370G>A protEffect p.Gly245Ser
TP53_g.13380G>T commonName G>T
TP53_g.13380G>T protEffect p.Arg248Leu
TP53_g.12469G>A commonName G>A
TP53_g.12469G>A protEffect p.Ala161Thr
TP53_g.13863_13867del commonName del5
TP53_g.12397_12403del commonName del7
TP53_g.12507G>A commonName G>A
TP53_g.12507G>A protEffect p.Val173Val
TP53_g.13389T>G commonName T>G
TP53_g.13389T>G protEffect p.Ile251Ser
TP53_g.13390_13391ins4 commonName ins4
TP53_g.11409C>T commonName C>T
TP53_g.11409C>T protEffect p.Pro60Ser
TP53_g.11376G>C commonName G>C
TP53_g.11376G>C protEffect p.Asp49His
TP53_g.11390G>T commonName G>T
TP53_g.11390G>T protEffect p.Trp53Cys
TP53_g.12680A>G commonName A>G
TP53_g.12680A>G protEffect p.Glu204Gly
TP53_g.12674G>T commonName G>T
TP53_g.12674G>T protEffect p.Arg202Leu
TP53_g.13825G>C commonName G>C
TP53_g.13825G>C protEffect p.Arg282Pro
TP53_g.12487del commonName del1
TP53_g.12683A>T commonName A>T
TP53_g.12683A>T protEffect p.Tyr205Phe
TP53_g.12415del commonName del1
TP53_g.12715G>T commonName G>T
TP53_g.12715G>T protEffect p.Val216Leu
TP53_g.13773C>T commonName C>T
TP53_g.13773C>T protEffect p.Leu265Leu
TP53_g.13383G>T commonName G>T
TP53_g.13383G>T protEffect p.Arg249Met
TP53_g.12530G>A commonName G>A
TP53_g.12530G>A protEffect p.Arg181His
TP53_g.13795T>C commonName T>C
TP53_g.13795T>C protEffect p.Val272Ala
TP53_g.14066G>A commonName G>A
TP53_g.13838A>G commonName A>G
TP53_g.13838A>G protEffect p.Glu286Glu
TP53_g.13349T>A commonName T>A
TP53_g.13349T>A protEffect p.Cys238Ser
TP53_g.12442_12454del commonName del13
TP53_g.12712A>G commonName A>G
TP53_g.12712A>G protEffect p.Ser215Gly
TP53_g.13398T>A commonName T>A
TP53_g.13398T>A protEffect p.Ile254Asn
TP53_g.12659T>G commonName T>G
TP53_g.12659T>G protEffect p.Val197Gly
TP53_g.13371G>A commonName G>A
TP53_g.13371G>A protEffect p.Gly245Asp
TP53_g.11606G>A commonName G>A
TP53_g.11606G>A protEffect p.Thr125Thr
TP53_g.12383A>G commonName A>G
TP53_g.12383A>G protEffect p.Lys132Arg
TP53_g.13333_13334ins4 commonName ins4
TP53_g.12534C>A commonName C>A
TP53_g.12534C>A protEffect p.Cys182STOP
TP53_g.12392G>C commonName G>C
TP53_g.12392G>C protEffect p.Cys135Ser
TP53_g.13801T>A commonName T>A
TP53_g.13801T>A protEffect p.Val274Asp
TP53_g.13350G>T commonName G>T
TP53_g.13350G>T protEffect p.Cys238Phe
TP53_g.12715_12716delinsTG commonName GT>TG
TP53_g.12715_12716delinsTG protEffect p.Val216Trp
TP53_g.12707G>C commonName G>C
TP53_g.12707G>C protEffect p.Arg213Pro
TP53_g.12724_12727del commonName del4
TP53_g.12538G>T commonName G>T
TP53_g.12538G>T protEffect p.Asp184Tyr
TP53_g.12364T>A commonName T>A
TP53_g.12364T>A protEffect p.Tyr126Asn
TP53_g.12529C>T commonName C>T
TP53_g.12529C>T protEffect p.Arg181Cys
TP53_g.13819G>C commonName G>C
TP53_g.13819G>C protEffect p.Arg280Thr
TP53_g.13804G>T commonName G>T
TP53_g.13804G>T protEffect p.Cys275Phe
TP53_g.11560G>T commonName G>T
TP53_g.11560G>T protEffect p.Arg110Leu
TP53_g.12461G>T commonName G>T
TP53_g.12461G>T protEffect p.Arg158Leu
TP53_g.12512G>T commonName G>T
TP53_g.12512G>T protEffect p.Arg175Leu
TP53_g.13319_13340del commonName del22
TP53_g.13385C>T commonName C>T
TP53_g.13385C>T protEffect p.Pro250Ser
TP53_g.13853_13854ins1 commonName ins1
TP53_g.12438_12439ins4 commonName ins4
TP53_g.17968_17986del commonName del19
TP53_g.12451_12459del commonName del9
TP53_g.13375G>A commonName G>A
TP53_g.13375G>A protEffect p.Met246Ile
TP53_g.11578C>G commonName C>G
TP53_g.11578C>G protEffect p.Ser116Cys
TP53_g.13332T>A commonName T>A
TP53_g.13332T>A protEffect p.Ile232Asn
TP53_g.12380A>T commonName A>T
TP53_g.12380A>T protEffect p.Asn131Ile
TP53_g.12710A>G commonName A>G
TP53_g.12710A>G protEffect p.His214Arg
TP53_g.12476A>G commonName A>G
TP53_g.12476A>G protEffect p.Tyr163Cys
TP53_g.12482A>G commonName A>G
TP53_g.12482A>G protEffect p.Gln165Arg
TP53_g.16887del commonName del1
TP53_g.11493del commonName del1
TP53_g.12392del commonName del1
TP53_g.12653T>C commonName T>C
TP53_g.12653T>C protEffect p.Ile195Thr
TP53_g.13815del commonName del1
TP53_g.12514T>C commonName T>C
TP53_g.12514T>C protEffect p.Cys176Arg
TP53_g.13764G>A commonName G>A
TP53_g.13764G>A protEffect p.Gly262Ser
TP53_g.16915C>T commonName C>T
TP53_g.16915C>T protEffect p.Arg342STOP
TP53_g.13308A>C commonName A>C
TP53_g.16892G>T commonName G>T
TP53_g.16892G>T protEffect p.Gly334Val
TP53_g.14066G>T commonName G>T
TP53_g.11433G>T commonName G>T
TP53_g.11433G>T protEffect p.Glu68STOP
TP53_g.12440C>A commonName C>A
TP53_g.12440C>A protEffect p.Pro151His
TP53_g.12428T>A commonName T>A
TP53_g.12428T>A protEffect p.Val147Asp
TP53_g.12694A>T commonName A>T
TP53_g.12694A>T protEffect p.Arg209STOP
TP53_g.13761A>C commonName A>C
TP53_g.13824C>G commonName C>G
TP53_g.13824C>G protEffect p.Arg282Gly
TP53_g.12350_12377del commonName del28
TP53_g.11606G>T commonName G>T
TP53_g.11606G>T protEffect p.Thr125Thr
TP53_g.13363_13364ins7 commonName ins7
TP53_g.13863_13864del commonName del2
TP53_g.12442_12443del commonName del2
TP53_g.12712A>C commonName A>C
TP53_g.12712A>C protEffect p.Ser215Arg
TP53_g.12404A>C commonName A>C
TP53_g.12404A>C protEffect p.Lys139Thr
TP53_g.12505G>A commonName G>A
TP53_g.12505G>A protEffect p.Val173Met
TP53_g.12647A>C commonName A>C
TP53_g.12647A>C protEffect p.His193Pro
TP53_g.12706del commonName del1
TP53_g.12376C>G commonName C>G
TP53_g.12376C>G protEffect p.Leu130Val
TP53_g.14021C>T commonName C>T
TP53_g.14021C>T protEffect p.Gln317STOP
TP53_g.13370G>T commonName G>T
TP53_g.13370G>T protEffect p.Gly245Cys
TP53_g.11024G>C commonName G>C
TP53_g.11024G>C protEffect p.Asp7His
TP53_g.11397G>T commonName G>T
TP53_g.11397G>T protEffect p.Glu56STOP
TP53_g.13370_13371delinsAA commonName GG>AA
TP53_g.13370_13371delinsAA protEffect p.Gly245Asn
TP53_g.13835_13836delinsAA commonName GG>AA
TP53_g.13835_13836delinsAA protEffect E286K
TP53_g.13378_13379delinsTT commonName CC>TT
TP53_g.13378_13379delinsTT protEffect R248W
TP53_g.12442C>T commonName C>T
TP53_g.12442C>T protEffect p.Pro152Ser
TP53_g.11543del commonName del1
TP53_g.12665G>T commonName G>T
TP53_g.12665G>T protEffect p.Gly199Val
TP53_g.13362G>T commonName G>T
TP53_g.13362G>T protEffect p.Cys242Phe
TP53_g.13332T>C commonName T>C
TP53_g.13332T>C protEffect p.Ile232Thr
TP53_g.13351_13352ins1 commonName ins1
TP53_g.12741G>C commonName G>C
TP53_g.12741G>C protEffect p.Glu224Asp
TP53_g.11371C>T commonName C>T
TP53_g.11371C>T protEffect p.Pro47Leu
TP53_g.12411C>G commonName C>G
TP53_g.12411C>G protEffect p.Cys141Trp
TP53_g.13780G>C commonName G>C
TP53_g.13780G>C protEffect p.Arg267Pro
TP53_g.11496del commonName del1
TP53_g.11333_11334ins1 commonName ins1
TP53_g.13900G>T commonName G>T
TP53_g.12742G>A commonName G>A
TP53_g.13851A>T commonName A>T
TP53_g.13851A>T protEffect p.Lys291STOP
TP53_g.13363C>G commonName C>G
TP53_g.13363C>G protEffect p.Cys242Trp
TP53_g.13413A>T commonName A>T
TP53_g.13413A>T protEffect p.Asp259Val
TP53_g.12426G>A commonName G>A
TP53_g.12426G>A protEffect p.Trp146STOP
TP53_g.12640del commonName del1
TP53_g.12480G>T commonName G>T
TP53_g.12480G>T protEffect p.Lys164Asn
TP53_g.12713G>T commonName G>T
TP53_g.12713G>T protEffect p.Ser215Ile
TP53_g.12718G>T commonName G>T
TP53_g.12718G>T protEffect p.Val217Leu
TP53_g.11535del commonName del1
TP53_g.12516C>G commonName C>G
TP53_g.12516C>G protEffect p.Cys176Trp
TP53_g.12480_12481ins9 commonName ins9
TP53_g.13830A>C commonName A>C
TP53_g.13830A>C protEffect p.Thr284Pro
TP53_g.12628G>T commonName G>T
TP53_g.12478del commonName del1
TP53_g.12658G>C commonName G>C
TP53_g.12658G>C protEffect p.Val197Leu
TP53_g.12470C>A commonName C>A
TP53_g.12470C>A protEffect p.Ala161Asp
TP53_g.12452C>A commonName C>A
TP53_g.12452C>A protEffect p.Thr155Asn
TP53_g.12457_12468del commonName del12
TP53_g.12691_12694del commonName del4
TP53_g.12652A>T commonName A>T
TP53_g.12652A>T protEffect p.Ile195Phe
TP53_g.13821G>C commonName G>C
TP53_g.13821G>C protEffect p.Asp281His
TP53_g.12667del commonName del1
TP53_g.13381_13382ins1 commonName ins1
TP53_g.12494T>C commonName T>C
TP53_g.12494T>C protEffect p.Met169Thr
TP53_g.13812C>A commonName C>A
TP53_g.13812C>A protEffect p.Pro278Thr
TP53_g.12460C>T commonName C>T
TP53_g.12460C>T protEffect p.Arg158Cys
TP53_g.13804G>A commonName G>A
TP53_g.13804G>A protEffect p.Cys275Tyr
TP53_g.12728A>C commonName A>C
TP53_g.12728A>C protEffect p.Tyr220Ser
TP53_g.12661G>A commonName G>A
TP53_g.12661G>A protEffect p.Glu198Lys
TP53_g.12682T>G commonName T>G
TP53_g.12682T>G protEffect p.Tyr205Asp
TP53_g.13371_13372delinsTT commonName GC>TT
TP53_g.13371_13372delinsTT protEffect p.Gly245Val
TP53_g.13407T>C commonName T>C
TP53_g.13407T>C protEffect p.Leu257Pro
TP53_g.13409_13417del commonName del9
TP53_g.13867A>C commonName A>C
TP53_g.13867A>C protEffect p.His296Pro
TP53_g.13814_13815ins1 commonName ins1
TP53_g.13389T>A commonName T>A
TP53_g.13389T>A protEffect p.Ile251Asn
TP53_g.13345C>A commonName C>A
TP53_g.13345C>A protEffect p.Tyr236STOP
TP53_g.13797C>G commonName C>G
TP53_g.13797C>G protEffect p.Arg273Gly
TP53_g.13860G>T commonName G>T
TP53_g.13860G>T protEffect p.Glu294STOP
TP53_g.13811_13812ins1 commonName ins1
TP53_g.13321C>G commonName C>G
TP53_g.13321C>G protEffect p.Asp228Glu
TP53_g.13340_13353del commonName del14
TP53_g.14057del commonName del1
TP53_g.12508_12525del commonName del18
TP53_g.13803T>C commonName T>C
TP53_g.13803T>C protEffect p.Cys275Arg
TP53_g.13349T>C commonName T>C
TP53_g.13349T>C protEffect p.Cys238Arg
TP53_g.13812C>G commonName C>G
TP53_g.13812C>G protEffect p.Pro278Ala
TP53_g.13825G>T commonName G>T
TP53_g.13825G>T protEffect p.Arg282Leu
TP53_g.12370C>T commonName C>T
TP53_g.12370C>T protEffect p.Pro128Ser
TP53_g.12502del commonName del1
TP53_g.12372T>G commonName T>G
TP53_g.12372T>G protEffect p.Pro128Pro
TP53_g.13347T>A commonName T>A
TP53_g.13347T>A protEffect p.Met237Lys
TP53_g.12388T>C commonName T>C
TP53_g.12388T>C protEffect p.Phe134Leu
TP53_g.13788T>A commonName T>A
TP53_g.13788T>A protEffect p.Phe270Ile
TP53_g.12694_12695del commonName del2
TP53_g.12402C>T commonName C>T
TP53_g.12402C>T protEffect p.Ala138Ala
TP53_g.13757_13761del commonName del5
TP53_g.12715_12717del commonName del3
TP53_g.12524A>G commonName A>G
TP53_g.12524A>G protEffect p.His179Arg
TP53_g.11326A>T commonName A>T
TP53_g.13385_13386delinsTT commonName CC>TT
TP53_g.13385_13386delinsTT protEffect p.Pro250Phe
TP53_g.13396_13397ins1 commonName ins1
TP53_g.12548G>A commonName G>A
TP53_g.12365A>G commonName A>G
TP53_g.12365A>G protEffect p.Tyr126Cys
TP53_g.13308A>G commonName A>G
TP53_g.13821G>T commonName G>T
TP53_g.13821G>T protEffect p.Asp281Tyr
TP53_g.12460C>G commonName C>G
TP53_g.12460C>G protEffect p.Arg158Gly
TP53_g.12491A>G commonName A>G
TP53_g.12491A>G protEffect p.His168Arg
TP53_g.12469G>T commonName G>T
TP53_g.12469G>T protEffect p.Ala161Ser
TP53_g.12455G>T commonName G>T
TP53_g.12455G>T protEffect p.Arg156Leu
TP53_g.11491C>A commonName C>A
TP53_g.11491C>A protEffect p.Pro87Gln
TP53_g.12504_12505ins1 commonName ins1
TP53_g.12408_12409ins14 commonName ins14
TP53_g.12379_12381del commonName del3
TP53_g.13339C>A commonName C>A
TP53_g.13339C>A protEffect p.Tyr234STOP
TP53_g.13334_13341del commonName del8
TP53_g.13391_13399del commonName del9
TP53_g.13805T>G commonName T>G
TP53_g.13805T>G protEffect p.Cys275Trp
TP53_g.12418_12420del commonName del3
TP53_g.12475T>A commonName T>A
TP53_g.12475T>A protEffect p.Tyr163Asn
TP53_g.12382A>G commonName A>G
TP53_g.12382A>G protEffect p.Lys132Glu
TP53_g.13385_13392del commonName del8
TP53_g.13372C>T commonName C>T
TP53_g.13372C>T protEffect p.Gly245Gly
TP53_g.11328_11605del commonName del278
TP53_g.12637del commonName del1
TP53_g.13374T>C commonName T>C
TP53_g.13374T>C protEffect p.Met246Thr
TP53_g.11582_11583ins2 commonName ins2
TP53_g.12430G>A commonName G>A
TP53_g.12430G>A protEffect p.Asp148Asn
TP53_g.12459_12460delinsTT commonName CC>TT
TP53_g.12459_12460delinsTT protEffect R158C
TP53_g.12465C>T commonName C>T
TP53_g.12465C>T protEffect p.Ala159Ala
TP53_g.11382G>T commonName G>T
TP53_g.11382G>T protEffect p.Glu51STOP
TP53_g.12654_12655delinsTT commonName CC>TT
TP53_g.12654_12655delinsTT protEffect R196X
TP53_g.13383del commonName del1
TP53_g.14018del commonName del1
TP53_g.12739G>T commonName G>T
TP53_g.12739G>T protEffect p.Glu224STOP
TP53_g.12684T>G commonName T>G
TP53_g.12684T>G protEffect p.Tyr205STOP
TP53_g.12634G>C commonName G>C
TP53_g.12634G>C protEffect p.Ala189Pro
TP53_g.12703del commonName del1
TP53_g.12504T>C commonName T>C
TP53_g.12504T>C protEffect p.Val172Val
TP53_g.12511C>T commonName C>T
TP53_g.12511C>T protEffect p.Arg175Cys
TP53_g.12506T>A commonName T>A
TP53_g.12506T>A protEffect p.Val173Glu
TP53_g.13800G>T commonName G>T
TP53_g.13800G>T protEffect p.Val274Phe
TP53_g.13830A>G commonName A>G
TP53_g.13830A>G protEffect p.Thr284Ala
TP53_g.12552G>C commonName G>C
TP53_g.12440C>G commonName C>G
TP53_g.12440C>G protEffect p.Pro151Arg
TP53_g.12445C>A commonName C>A
TP53_g.12445C>A protEffect p.Pro153Thr
TP53_g.11511T>A commonName T>A
TP53_g.11511T>A protEffect p.Ser94Thr
TP53_g.13822A>T commonName A>T
TP53_g.13822A>T protEffect p.Asp281Val
TP53_g.12737C>T commonName C>T
TP53_g.12737C>T protEffect p.Pro223Leu
TP53_g.12401del commonName del1
TP53_g.12366C>G commonName C>G
TP53_g.12366C>G protEffect p.Tyr126STOP
BGMUT_10 alias A201 intronic
BGMUT_10 commonName A201
BGMUT_10 phenoCommon A2
BGMUT_100 commonName Aw07
BGMUT_100 phenoCommon Aw
BGMUT_100 protEffect P156L; R198W; 354fs + 21aa
BGMUT_101 commonName Aw08
BGMUT_101 phenoCommon Aw
BGMUT_101 protEffect P74S; T163M; R176G; G268R
BGMUT_103 commonName Ael01
BGMUT_103 phenoCommon Ael
BGMUT_103 protEffect 269fs
BGMUT_104 commonName Ael02
BGMUT_104 phenoCommon Ael
BGMUT_104 protEffect P156L; F216I
BGMUT_105 alias Aelvar
BGMUT_105 commonName Ael03
BGMUT_105 phenoCommon Ael
BGMUT_105 protEffect 269fs
BGMUT_106 commonName Ael04
BGMUT_106 phenoCommon Ael
BGMUT_106 protEffect no full transcript; alternatively spliced fragments
BGMUT_107 commonName Ael05
BGMUT_107 phenoCommon Ael
BGMUT_107 protEffect P156L; I256T
BGMUT_108 alias A112
BGMUT_108 commonName Am01
BGMUT_108 phenoCommon Am
BGMUT_108 protEffect P156L A254V
BGMUT_109 commonName Am02
BGMUT_109 phenoCommon Am
BGMUT_109 protEffect V222M
BGMUT_11 commonName A202
BGMUT_11 phenoCommon A2
BGMUT_11 protEffect R352W
BGMUT_110 commonName cis-AB01
BGMUT_110 phenoCommon cisAB
BGMUT_110 protEffect P156L; G268A
BGMUT_111 commonName cis-AB02
BGMUT_111 phenoCommon cisAB
BGMUT_111 protEffect R176G; G235S; G268A
BGMUT_112 commonName cis-AB03
BGMUT_112 phenoCommon cisAB
BGMUT_112 protEffect R176G; P234A; G235S; L266M; G268A;
BGMUT_113 commonName cis-AB04
BGMUT_113 phenoCommon cisAB
BGMUT_113 protEffect P156L; L266M
BGMUT_114 commonName B301
BGMUT_114 phenoCommon B3
BGMUT_114 protEffect R176G; G235S; L266M; G268A; R352W
BGMUT_115 commonName B302
BGMUT_115 phenoCommon B3
BGMUT_115 protEffect R176G; F216I; G235S; L266M; G268A
BGMUT_117 commonName B304
BGMUT_117 phenoCommon B3
BGMUT_117 protEffect D83Y; R176G; G235S; L266M; G268A
BGMUT_118 commonName B(A)01
BGMUT_118 phenoCommon B(A)
BGMUT_118 protEffect R176G; L266M; G268A
BGMUT_119 commonName B(A)02
BGMUT_119 phenoCommon B(A)
BGMUT_119 protEffect R176G; P234A; G235S; L266M; G268A;
BGMUT_12 commonName A203
BGMUT_12 phenoCommon A2
BGMUT_12 protEffect R352G
BGMUT_120 alias B(A)var
BGMUT_120 commonName B(A)03
BGMUT_120 phenoCommon B(A)
BGMUT_120 protEffect R176G; L266M; G268A
BGMUT_121 alias B104
BGMUT_121 commonName Bx01
BGMUT_121 phenoCommon Bx
BGMUT_121 protEffect R176G; G235S; L266M; G268A; D291N
BGMUT_122 alias B105
BGMUT_122 commonName Bel01
BGMUT_122 phenoCommon Bel. very low B antigen expression
BGMUT_122 protEffect R176G; M214R; G235S; L266M; G268A
BGMUT_123 alias B106
BGMUT_123 commonName Bel02
BGMUT_123 phenoCommon Bel
BGMUT_123 protEffect R176; E223D; G235S; L266M; G268A
BGMUT_124 commonName Bel03
BGMUT_124 phenoCommon Bel
BGMUT_124 protEffect R168W; R176G; G235S; L266M; G268A
BGMUT_125 commonName Bel04
TP53_g.11445_11454del commonName del10
TP53_g.11564del commonName del1
BGMUT_125 phenoCommon Bel
BGMUT_125 protEffect P156L; F216I; L266M; G268A; V277M
BGMUT_126 commonName Bw02
BGMUT_126 phenoCommon Bw
BGMUT_126 protEffect R176G; G235S; L266M; G268A; D291E
BGMUT_127 commonName Bw03
BGMUT_127 phenoCommon Bw
BGMUT_127 protEffect R176G; G235S; R241W; L266M; G268A
BGMUT_128 commonName Bw04
BGMUT_128 phenoCommon Bw
BGMUT_128 protEffect R176G; D183G; G235S; R241W; L266M; G268A
BGMUT_129 commonName Bw05
BGMUT_129 phenoCommon Bw
BGMUT_129 protEffect R176GR180H; G235S; L266M; G268A
BGMUT_13 commonName A204
BGMUT_13 phenoCommon A2
BGMUT_13 protEffect R176G; G235S; V277M
BGMUT_130 commonName Bw06
BGMUT_130 phenoCommon Bw
BGMUT_130 protEffect R176G; G235S; L266M; G268A; K346E
BGMUT_131 commonName Bw07
BGMUT_131 phenoCommon Bw
BGMUT_131 protEffect R176G; G235S; L266M; G268A; R352Q
BGMUT_132 commonName Bw08
BGMUT_132 phenoCommon Bw
BGMUT_132 protEffect R176G; G235S; L266M; G268A; M288R
BGMUT_133 commonName Bw09
BGMUT_133 phenoCommon Bw
BGMUT_133 protEffect R176G; G235S; L266M; K346M
BGMUT_134 commonName Bw10
BGMUT_134 protEffect R176G; M186V; G235S; L266M; G268A
BGMUT_136 commonName C4A*1
BGMUT_136 phenoCommon Chi 3, 4, 5, 6; Rg -
BGMUT_136 protEffect D1054G; N1157S; V1188A; L1191R;
BGMUT_137 commonName C4A*3(WH)
BGMUT_137 phenoCommon Ch6; Rg1
BGMUT_137 protEffect N1157S
BGMUT_139 commonName C4B*1
BGMUT_139 phenoCommon Ch1, 2, 4, 5; Rg1
BGMUT_139 protEffect S1157N
BGMUT_14 commonName A205
BGMUT_14 phenoCommon A2
BGMUT_14 protEffect P156L; R337G
BGMUT_140 commonName C4B*2
BGMUT_140 phenoCommon Ch1, 3, 5, 6; Rg-
BGMUT_140 protEffect G1054D
BGMUT_141 commonName C4B*5
BGMUT_141 phenoCommon Ch4, 6; Rg1
BGMUT_141 protEffect G1054D; A1188V; R1191V;
BGMUT_143 commonName AQP1-2
BGMUT_143 phenoCommon CO2; CO3; Co(a-,b+)
BGMUT_143 protEffect A45V
BGMUT_144 commonName AQP1-n1
BGMUT_144 phenoCommon Co(a-,b-)
BGMUT_144 protEffect deletion of exon 1 encoded aa
BGMUT_145 commonName AQP1-n2
BGMUT_145 phenoCommon Co(a-,b-)
BGMUT_145 protEffect G107fs
BGMUT_146 commonName AQP1-n3
BGMUT_146 phenoCommon Co(a-,b-)
BGMUT_146 protEffect P38L
BGMUT_147 commonName AQP1-n4
BGMUT_147 phenoCommon Co(a-,b-)
BGMUT_147 protEffect N192K
BGMUT_148 commonName AQP1-n5
BGMUT_148 phenoCommon Co(a-,b-)
BGMUT_148 protEffect 78fs
BGMUT_149 commonName AQP1-n6
BGMUT_149 protEffect Q47R
BGMUT_15 commonName A206
BGMUT_15 phenoCommon A2
BGMUT_15 protEffect 354fs + 21aa
BGMUT_151 alias DAF 679C
BGMUT_151 commonName DAF Cr(a-)
BGMUT_151 phenoCommon Cr(a-)
BGMUT_151 protEffect A227P
BGMUT_152 alias DAF 155T
BGMUT_152 commonName DAF Tc-b
BGMUT_152 phenoCommon Tc-b
BGMUT_152 protEffect R52L
BGMUT_153 alias DAF 155C
BGMUT_153 commonName DAF Tc-c
BGMUT_153 phenoCommon Tc-c
BGMUT_153 protEffect R52P
BGMUT_155 alias DAF 239A
BGMUT_155 commonName DAF Es(a-)
BGMUT_155 phenoCommon Es(a-)
BGMUT_155 protEffect I80N
BGMUT_156 alias DAF 261A
BGMUT_156 commonName DAF IFC-
BGMUT_156 phenoCommon null; Inab-
BGMUT_156 protEffect W87X
BGMUT_157 alias DAF 263A
BGMUT_157 commonName DAF IFC-
BGMUT_157 phenoCommon null; Inab-
BGMUT_157 protEffect S88X
BGMUT_158 alias DAF 245T
BGMUT_158 commonName DAF WES-a
BGMUT_158 phenoCommon WES-a
BGMUT_158 protEffect L82R
BGMUT_159 alias DAF 749T
BGMUT_159 commonName DAF UMC-
BGMUT_159 phenoCommon UMC-
BGMUT_159 protEffect T250M
BGMUT_16 commonName A207
BGMUT_16 phenoCommon A2
BGMUT_16 protEffect R180P
BGMUT_160 alias DAF 719A
BGMUT_160 commonName DAF GUTI-
BGMUT_160 phenoCommon GUT1-
BGMUT_160 protEffect R240H
BGMUT_161 alias DAF 647T
BGMUT_161 commonName DAF SERF-
BGMUT_161 phenoCommon SERF-
BGMUT_161 protEffect P216L
BGMUT_162 alias DAF 726G
BGMUT_162 commonName DAF Zena (CROM13)
BGMUT_162 phenoCommon Zena-
BGMUT_162 protEffect H242Q
BGMUT_164 alias DO 378T; 624C; 793G
BGMUT_164 commonName DOB
BGMUT_164 phenoCommon DOb
BGMUT_164 protEffect Y126Y; L208L; N265D
BGMUT_165 alias DO 323T, 378T
BGMUT_165 commonName DO HY
BGMUT_165 phenoCommon Hy +
BGMUT_165 protEffect G108V
BGMUT_166 alias DO 350T, 378T
BGMUT_166 commonName DO JO
BGMUT_166 phenoCommon Jo(a -)
BGMUT_166 protEffect T117I
BGMUT_167 alias DO intron 1 3'G
BGMUT_167 commonName DO GY1
BGMUT_167 phenoCommon Donull; Gy(a-)
BGMUT_167 protEffect DOB exon 2 del
BGMUT_168 alias DO intron 1 5'C
BGMUT_168 commonName DO GY4
BGMUT_168 phenoCommon Donull; Gy(a-)
BGMUT_168 protEffect DOB exon 2 del
BGMUT_169 alias DO 442T
BGMUT_169 commonName DO GY5
BGMUT_169 phenoCommon Donull; Gy(a-)
BGMUT_169 protEffect Q148X
BGMUT_17 alias B101 exonic
BGMUT_17 commonName B101
BGMUT_17 phenoCommon B
BGMUT_17 protEffect R176G; G235S; L266M; G268A
BGMUT_170 commonName DO 343-350del
BGMUT_170 phenoCommon Donull; Gy(a-)
BGMUT_170 protEffect 114 fs + X
BGMUT_171 alias DO 323T, 898G
BGMUT_171 commonName DO HY1
BGMUT_171 phenoCommon Hy-
BGMUT_171 protEffect G108V; N265D; L300V
BGMUT_172 alias DO 323T
BGMUT_172 commonName DO HY2
BGMUT_172 phenoCommon Hy-
BGMUT_172 protEffect G108V; N265D;
BGMUT_174 commonName SLC4A1 - DIa
BGMUT_174 phenoCommon DIa (Memphis neg)
BGMUT_174 protEffect P854L
BGMUT_175 commonName SLC4A1 - Memphis-DIb
BGMUT_175 phenoCommon DIb
BGMUT_175 protEffect K56E
BGMUT_176 commonName SLC4A1 - Memphis-DIa
BGMUT_176 phenoCommon DIa
BGMUT_176 protEffect K56E; P854L
BGMUT_177 commonName SLC4A1 - Tuscaloosa
BGMUT_177 protEffect K56E; P327R
BGMUT_178 commonName SLC4A1 - Montefiore
BGMUT_178 protEffect E40K
BGMUT_179 commonName SLC4A1 - Foggia
BGMUT_179 protEffect 54-55fs
BGMUT_18 alias B101 intronic
BGMUT_18 commonName B101
BGMUT_18 phenoCommon B
BGMUT_18 protEffect none
BGMUT_180 commonName SLC4A1 - Kagoshima
BGMUT_180 protEffect 56fs
BGMUT_181 commonName SLC4A1 - Hodonin
BGMUT_181 protEffect W81X
BGMUT_182 commonName SLC4A1 - Cape Town
BGMUT_182 protEffect E90K
BGMUT_183 commonName SLC4A1 - Napoli I
BGMUT_183 protEffect 99-100fs
BGMUT_184 commonName SLC4A1 - Fukayama I
BGMUT_184 protEffect 112-113fs
BGMUT_185 commonName SLC4A1 - Nachod
BGMUT_185 protEffect 117-121del GTVLL
BGMUT_186 commonName SLC4A1 - Fukoka
BGMUT_186 protEffect G130R
BGMUT_187 commonName SLC4A1 - Osnabruck I
BGMUT_187 protEffect R150X
BGMUT_188 commonName SLC4A1 - Worcester
BGMUT_188 protEffect 172-173fs
BGMUT_189 commonName SLC4A1 - Fukayama II
BGMUT_189 protEffect 183fs
BGMUT_19 commonName B101 var1
BGMUT_19 phenoCommon B
BGMUT_19 protEffect R176G; G235S; L266M; G268A
BGMUT_190 commonName SLC4A1 - Campinas
BGMUT_190 protEffect 203fs
BGMUT_191 commonName SLC4A1 - Bohain
BGMUT_191 protEffect 241fs
BGMUT_192 commonName SLC4A1 - Princeton
BGMUT_192 protEffect 273-275fs
BGMUT_193 commonName SLC4A1 - Boston
BGMUT_193 protEffect A285D
BGMUT_194 commonName SLC4A1 - Noirterre
BGMUT_194 protEffect Q330X
BGMUT_195 commonName SLC4A1 - Bruggen
BGMUT_195 protEffect 419fs
BGMUT_196 commonName SLC4A1 - Benesov
BGMUT_196 protEffect G455E
BGMUT_197 commonName SLC4A1 - Bicetre II
BGMUT_197 protEffect 456fs
BGMUT_198 commonName SLC4A1 - Pribram
BGMUT_198 protEffect 477fs
BGMUT_199 commonName SLC4A1 - Coimbra
BGMUT_199 protEffect V488M
BGMUT_20 commonName B102
BGMUT_20 phenoCommon B
BGMUT_20 protEffect R176G; G235S L266M; G268A
BGMUT_200 commonName SLC4A1 - Bicetre I
BGMUT_200 protEffect R490C
BGMUT_201 commonName SLC4A1 - Evry
BGMUT_201 protEffect 492fs
BGMUT_202 commonName SLC4A1 - Milano
BGMUT_202 protEffect 498ins, 23 residues
BGMUT_203 commonName SLC4A1 - Dresden
BGMUT_203 protEffect R518C
BGMUT_204 commonName SLC4A1 - Smichov
BGMUT_204 protEffect 616fs
BGMUT_205 commonName SLC4A1 - Trutnov
BGMUT_205 protEffect Y628X
BGMUT_206 commonName SLC4A1 - Hobart
BGMUT_206 protEffect 646-647fs
BGMUT_207 commonName SLC4A1 - Osnabruck II
BGMUT_207 protEffect 663-664fs
BGMUT_208 commonName SLC4A1 - Most
BGMUT_208 protEffect P707L
BGMUT_209 commonName SLC4A1 - Okinawa
BGMUT_209 protEffect G714R
BGMUT_21 commonName B103
BGMUT_21 phenoCommon B
BGMUT_21 protEffect R176G; G235S L266M; G268A
BGMUT_210 commonName SLC4A1 - Prague II
BGMUT_210 protEffect R760Q
BGMUT_211 alias SCLCA1 2278T
BGMUT_211 commonName SLC4A1 - Hradec Kralove
BGMUT_211 protEffect R760W
BGMUT_212 commonName SLC4A1 - Chur
BGMUT_212 protEffect G771D
BGMUT_213 commonName SLC4A1 - Napoli II
BGMUT_213 protEffect I783N
BGMUT_214 commonName SLC4A1 - Jablonec
BGMUT_214 protEffect R808C
BGMUT_215 commonName SLC4A1 - Nara
BGMUT_215 protEffect R808H
BGMUT_216 commonName SLC4A1 - Prague I
BGMUT_216 protEffect 822fs
BGMUT_217 commonName SLC4A1 - Birmingham
BGMUT_217 protEffect H834P
BGMUT_218 commonName SLC4A1 - Philadelphia
BGMUT_218 protEffect T837M
BGMUT_219 commonName SLC4A1 - Tokyo
BGMUT_219 protEffect T837A
BGMUT_22 commonName B107
BGMUT_22 phenoCommon B
BGMUT_22 protEffect R176G G235S L266M G268A
BGMUT_220 commonName SLC4A1 - HT
BGMUT_220 protEffect P868L
BGMUT_221 commonName SLC4A1 - Prague III
BGMUT_221 protEffect R870W
BGMUT_222 commonName SLC4A1 - Vesuvio
BGMUT_222 protEffect 984fs
BGMUT_223 commonName SLC4A1 - SAO
BGMUT_223 protEffect K56E; del400-408
BGMUT_224 commonName SLC4A1 - dRTA1
BGMUT_224 protEffect R589H
BGMUT_225 commonName SLC4A1 - dRTA2(1765T)
BGMUT_225 protEffect R589C
BGMUT_226 commonName SLC4A1 - dRTA2(1765A)
BGMUT_226 protEffect R589S
BGMUT_227 commonName SLC4A1 - dRTA2(2703del)
BGMUT_227 protEffect del901-911
BGMUT_228 commonName SLC4A1 - dRTA3
BGMUT_228 protEffect S613F
BGMUT_229 commonName SLC4A1 - dRTA4
BGMUT_229 protEffect M31T; K56E; G701D
BGMUT_23 alias O01 exonic
BGMUT_23 commonName O01
BGMUT_23 phenoCommon O
BGMUT_23 protEffect 88fs + truncation
BGMUT_230 commonName SLC4A1 - dRTA5
BGMUT_230 protEffect A858D
BGMUT_231 commonName SLC4A1 - dRTA6
BGMUT_231 protEffect 850delV
BGMUT_232 commonName SLC4A1 - dRTA6
BGMUT_232 protEffect G701D
BGMUT_233 commonName SLC4A1 - Wra
BGMUT_233 phenoCommon Wra
BGMUT_233 protEffect E658K
BGMUT_234 commonName SLC4A1 - Wda
BGMUT_234 phenoCommon Wda
BGMUT_234 protEffect V557M
BGMUT_235 commonName SLC4A1 - Rba
BGMUT_235 phenoCommon Rba
BGMUT_235 protEffect P548L
BGMUT_236 commonName SLC4A1 - WARR
BGMUT_236 protEffect T552I
BGMUT_237 commonName SLC4A1 - ELO
BGMUT_237 phenoCommon ELO
BGMUT_237 protEffect R432W
BGMUT_238 commonName SLC4A1 - Wu
BGMUT_238 phenoCommon Wu
BGMUT_238 protEffect G565A
BGMUT_239 commonName SLC4A1 - Bpa
BGMUT_239 phenoCommon Bpa
BGMUT_239 protEffect N569K
BGMUT_24 alias O01 intronic
BGMUT_24 commonName O01
BGMUT_24 phenoCommon O
BGMUT_240 commonName SLC4A1 - Moa
BGMUT_240 phenoCommon Moa
BGMUT_240 protEffect R656H
BGMUT_241 commonName SLC4A1 - Hga
BGMUT_241 phenoCommon Hga
BGMUT_241 protEffect R656C
BGMUT_242 commonName SLC4A1 - Vga
BGMUT_242 protEffect Y555H
BGMUT_243 commonName SLC4A1 - Swa1
BGMUT_243 phenoCommon Swa
BGMUT_243 protEffect R646Q
BGMUT_244 commonName SLC4A1 - Swa2
BGMUT_244 phenoCommon Swa
BGMUT_244 protEffect R646W
BGMUT_245 commonName SLC4A1 - BOW
BGMUT_245 phenoCommon BOW
BGMUT_245 protEffect P561S
BGMUT_246 commonName SLC4A1 - NFLD
BGMUT_246 phenoCommon NFLD
BGMUT_246 protEffect E429D; P561A
BGMUT_247 commonName SLC4A1 - Jna
BGMUT_247 phenoCommon Jna
BGMUT_247 protEffect P566S
BGMUT_248 commonName SLC4A1 - KREP
BGMUT_248 phenoCommon KREP
BGMUT_248 protEffect P566A
BGMUT_249 commonName SLC4A1 - Tra
BGMUT_249 phenoCommon Tra
BGMUT_249 protEffect K551N
BGMUT_25 commonName O011
BGMUT_25 phenoCommon O
BGMUT_250 commonName SLC4A1 - Fra
BGMUT_250 phenoCommon Fra
BGMUT_250 protEffect E480K
BGMUT_251 alias FYA 125G
BGMUT_251 commonName FYA
BGMUT_251 phenoCommon FY(a+b-)
BGMUT_251 protEffect D42G
BGMUT_253 alias FYB -33C
BGMUT_253 commonName FYB ES
BGMUT_253 phenoCommon FY(a-b-)
BGMUT_253 protEffect protein is not expressed in erythroid cells.
BGMUT_254 alias FYB 298A
BGMUT_254 commonName FYB 1
BGMUT_254 phenoCommon FY(a-b+)
BGMUT_254 protEffect A100T
BGMUT_255 alias FYB 265T, 298A
BGMUT_255 commonName FYB 2; FYBWK
BGMUT_255 phenoCommon FY(a-b+wk)
BGMUT_255 protEffect R89C; A100T
BGMUT_256 alias FYB 145T, 298A
BGMUT_256 commonName FYB 3
BGMUT_256 phenoCommon FY(a-b+wk)
BGMUT_256 protEffect A49S; R89C; A100T
BGMUT_257 alias FYA 281-295del
BGMUT_257 commonName FYAO (AZ)
BGMUT_257 phenoCommon FY(a-b-)
BGMUT_257 protEffect putative truncated protein of 118 residues
BGMUT_258 alias FYA 293A
BGMUT_258 commonName FYAO (Ye)
BGMUT_258 phenoCommon FY(a-b-)
BGMUT_258 protEffect W98X
BGMUT_259 alias FYA 413A
BGMUT_259 commonName FYAO(NE)
BGMUT_259 phenoCommon FY(a-b-)
BGMUT_259 protEffect W138X
BGMUT_26 alias O02 exonic
BGMUT_26 commonName O02
BGMUT_26 phenoCommon O
BGMUT_26 protEffect V36F; R63H; P74S; 88fs + truncation
BGMUT_260 alias FYB 413A
BGMUT_260 commonName FYBO (patient 2)
BGMUT_260 phenoCommon FY(a-b-)
BGMUT_260 protEffect W138X
BGMUT_261 alias FYA 414A
BGMUT_261 commonName FYAO (patient 3)
BGMUT_261 phenoCommon FY(a-b-)
BGMUT_261 protEffect W138X
BGMUT_263 commonName GYPC -2
BGMUT_263 phenoCommon Ge:-2,3,4 (Yus type)
BGMUT_263 protEffect altered GPC
BGMUT_264 commonName GYPC -2-3+4
BGMUT_264 phenoCommon Ge:-2,-2,4 (Gerbich type)
BGMUT_264 protEffect altered GPC
BGMUT_266 alias GYPC -2-3-4
BGMUT_266 commonName LN
BGMUT_266 phenoCommon Ge:-2,-3,-4; (Leach LN type)
BGMUT_266 protEffect W44L 45fs; 55X
BGMUT_267 alias Webb; GYPC-5
BGMUT_267 commonName Wb
BGMUT_267 phenoCommon Wb (Webb)
BGMUT_267 protEffect N8S
BGMUT_269 alias GYPC-7; GYPC 67T
BGMUT_269 commonName Ana
BGMUT_269 phenoCommon Ana
BGMUT_269 protEffect A2S in GPD
BGMUT_27 alias O02 intronic
BGMUT_27 commonName O02
BGMUT_27 phenoCommon O
BGMUT_27 protEffect none
BGMUT_270 alias GYPC-8; GYPC 40T
BGMUT_270 commonName Dha
BGMUT_270 phenoCommon Dha (Duch)
BGMUT_270 protEffect L14F
BGMUT_272 commonName AQP3 delta 5, French, USA
BGMUT_272 protEffect exon 5 skipped; fs
BGMUT_274 alias FUT1 349T
BGMUT_274 commonName Reunion Island
BGMUT_274 phenoCommon Reunion
BGMUT_274 protEffect H117Y
BGMUT_275 alias FUT1 442T
BGMUT_275 commonName h4 (Japan)
BGMUT_275 phenoCommon para-Bombay
BGMUT_275 protEffect D148Y
BGMUT_276 alias FUT1 460C, 1042A
BGMUT_276 commonName h5 (Japan)
BGMUT_276 phenoCommon para-Bombay
BGMUT_276 protEffect Y154H; E348K
BGMUT_277 alias FUT1 460C
BGMUT_277 commonName h5 (Taiwan)
BGMUT_277 phenoCommon para-Bombay
BGMUT_277 protEffect Y154H
BGMUT_278 alias FUT1 461G
BGMUT_278 commonName Europe 1
BGMUT_278 phenoCommon Bombay
BGMUT_278 protEffect Y154C
BGMUT_279 alias FUT1 462A
BGMUT_279 commonName h6 (Japan)
BGMUT_279 phenoCommon Bombay
BGMUT_279 protEffect Y154X
BGMUT_28 alias O03 exonic
BGMUT_28 commonName O03
BGMUT_28 phenoCommon O
BGMUT_28 protEffect P74S; R176G; G268R
BGMUT_280 alias USA1
BGMUT_280 commonName FUT1 491A
BGMUT_280 phenoCommon para-Bombay
BGMUT_280 protEffect L164H
BGMUT_281 alias FUT1 513C
BGMUT_281 commonName Europe 2
BGMUT_281 phenoCommon Bombay
BGMUT_281 protEffect W171C
BGMUT_282 alias FUT1 522A
BGMUT_282 commonName China
BGMUT_282 phenoCommon para-Bombay
BGMUT_282 protEffect F174L
BGMUT_283 alias FUT1 547delAG
BGMUT_283 commonName h1 (Taiwan)
BGMUT_283 phenoCommon para-Bombay
BGMUT_283 protEffect 182fs
BGMUT_284 alias FUT1 658T
BGMUT_284 commonName h3 (Taiwan)
BGMUT_284 phenoCommon para-Bombay
BGMUT_284 protEffect R220C
BGMUT_285 alias FUT1 695A
BGMUT_285 commonName h1 (Japan)
BGMUT_285 phenoCommon Bombay
BGMUT_285 protEffect W232X
BGMUT_286 alias FUT1 721C
BGMUT_286 commonName h3 (Japan)
BGMUT_286 phenoCommon para-Bombay
BGMUT_286 protEffect Y241H
BGMUT_287 alias FUT1 725G
BGMUT_287 commonName India
BGMUT_287 phenoCommon Bombay
BGMUT_287 protEffect L242R
BGMUT_288 alias FUT1 776A
BGMUT_288 commonName Europe 3
BGMUT_288 phenoCommon Bombay
BGMUT_288 protEffect V259E
BGMUT_289 alias FUT1 785A, 786A
BGMUT_289 commonName Europe 4
BGMUT_289 phenoCommon Bombay
BGMUT_289 protEffect S262K
BGMUT_290 commonName FUT1 801C
BGMUT_290 protEffect W267C
BGMUT_291 commonName FUT1 801T
BGMUT_291 protEffect W267C
BGMUT_292 alias USA2
BGMUT_292 commonName FUT1 826T
BGMUT_292 phenoCommon para-Bombay
BGMUT_292 protEffect Q276X
BGMUT_293 commonName FUT1 832A
BGMUT_293 protEffect D278N
BGMUT_294 alias FUT1 880delTT h2
BGMUT_294 commonName h2 (Taiwan)
BGMUT_294 phenoCommon para-Bombay
BGMUT_294 protEffect 294fs
BGMUT_295 alias FUT1 522A
BGMUT_295 commonName h6 (China)
BGMUT_295 phenoCommon para-Bombay
BGMUT_295 protEffect F174L
BGMUT_296 alias FUT1 904 insAAC
BGMUT_296 commonName h7 (Japan)
BGMUT_296 phenoCommon para-Bombay
BGMUT_296 protEffect H302-T303 insN
BGMUT_297 alias FUT1 944T
BGMUT_297 commonName Europe 5
BGMUT_297 phenoCommon Bombay
BGMUT_297 protEffect A315V
BGMUT_299 alias FUT1 990delG
BGMUT_299 commonName h2 (Japan)
BGMUT_299 phenoCommon para-Bombay
BGMUT_299 protEffect 330fs
BGMUT_30 commonName O04
BGMUT_30 phenoCommon O
BGMUT_30 protEffect 88fs + truncation
BGMUT_300 alias FUT1 1047C
BGMUT_300 commonName Europe 6
BGMUT_300 phenoCommon Bombay
BGMUT_300 protEffect W349C
BGMUT_302 alias FUT2 428A
BGMUT_302 commonName se2 (Reunion)
BGMUT_302 phenoCommon non-secretor
BGMUT_302 protEffect W143X; enzyme inactive
BGMUT_303 alias FUT2 715del
BGMUT_303 commonName Sec1
BGMUT_303 protEffect D238fs
BGMUT_304 alias FUT2 357T
BGMUT_304 commonName Se2
BGMUT_304 phenoCommon secretor
BGMUT_304 protEffect no change
BGMUT_308 alias FUT2 571T
BGMUT_308 commonName se3 Japan, Philippines Polynesia, Taiwan
BGMUT_308 phenoCommon non-secretor
BGMUT_308 protEffect R191X
BGMUT_309 alias FUT2 628T
BGMUT_309 commonName se5 Japan
BGMUT_309 phenoCommon non-secretor
BGMUT_309 protEffect R210X
BGMUT_31 commonName O05
BGMUT_31 phenoCommon O
BGMUT_31 protEffect 88fs + truncation
BGMUT_310 alias FUT2 658T
BGMUT_310 commonName China
BGMUT_310 phenoCommon non-secretor
BGMUT_310 protEffect R220X
BGMUT_311 alias FUT2 delGT
BGMUT_311 commonName Taiwan
BGMUT_311 phenoCommon non-secretor
BGMUT_311 protEffect V230del
BGMUT_312 alias FUT2 849A
BGMUT_312 commonName se4 Philippines, Taiwan
BGMUT_312 phenoCommon non-secretor
BGMUT_312 protEffect W283X
BGMUT_313 alias FUT2 40G
BGMUT_313 commonName Se40 South Africa
BGMUT_313 phenoCommon secretor
BGMUT_313 protEffect I14V
BGMUT_314 alias FUT2 481A
BGMUT_314 commonName Se481 South Africa
BGMUT_314 phenoCommon secretor
BGMUT_314 protEffect D161N
BGMUT_315 alias FUT2 40G, 481A
BGMUT_315 commonName Se40, 481 South Africa
BGMUT_315 phenoCommon secretor
BGMUT_315 protEffect I14V; D161N
BGMUT_316 alias FUT2 357T
BGMUT_316 commonName Se357 Taiwan, new Quinea
BGMUT_316 phenoCommon secretor
BGMUT_316 protEffect no change
BGMUT_317 alias FUT2 357T, 480T
BGMUT_317 commonName Se357, 480 Africa new Guinea
BGMUT_317 phenoCommon secretor
BGMUT_317 protEffect no change
BGMUT_318 alias FUT2 357T, 379T, 480T
BGMUT_318 commonName Se South Africa
BGMUT_318 phenoCommon secretor
BGMUT_318 protEffect R127C
BGMUT_319 alias FUT2 375G
BGMUT_319 commonName Se375 South Africa
BGMUT_319 phenoCommon secretor
BGMUT_319 protEffect no change
BGMUT_32 alias O06 exonic
BGMUT_32 commonName O06
BGMUT_32 phenoCommon O
BGMUT_32 protEffect 88fs + truncation
BGMUT_320 alias FUT2 357T, 480T, 778delC
BGMUT_320 commonName se 357, 480, 778 South Africa
BGMUT_320 phenoCommon non-secretor
BGMUT_320 protEffect 259fs 275X
BGMUT_321 alias FUT2 385T
BGMUT_321 commonName Se385 Polynesia, Taiwan (se2)
BGMUT_321 phenoCommon weak secretor
BGMUT_321 protEffect I129F
BGMUT_322 alias FUT2 357T, 385T
BGMUT_322 commonName se385 New Guinea
BGMUT_322 protEffect I129F
BGMUT_323 alias FUT2 400A
BGMUT_323 commonName Se400 New Guinea
BGMUT_323 protEffect V134I
BGMUT_324 commonName se428 New Guinea
BGMUT_324 protEffect W143X; G247S
BGMUT_325 alias FUT2 357T, 571T
BGMUT_325 commonName se571 New Guinea
BGMUT_325 protEffect R191X
BGMUT_326 alias FUT2 375G, 664T
BGMUT_326 commonName se664 New Guinea
BGMUT_326 phenoCommon non-secretor
BGMUT_326 protEffect R222C
BGMUT_327 alias FUT2 400A, 760A
BGMUT_327 commonName se760 New Guinea
BGMUT_327 phenoCommon non-secretor
BGMUT_327 protEffect V134I; D254N
BGMUT_328 alias FUT2 357T, 868A
BGMUT_328 commonName se868 New Guinea
BGMUT_328 phenoCommon non-secretor
BGMUT_328 protEffect G290R
BGMUT_329 alias FUT2 357T, 385T
BGMUT_329 commonName sej Japan
BGMUT_329 phenoCommon non-secretor
BGMUT_329 protEffect I129F
BGMUT_33 alias O06 intronic
BGMUT_33 commonName O06
BGMUT_33 phenoCommon O
BGMUT_33 protEffect none
BGMUT_330 alias FUT2 688-690del
BGMUT_330 commonName se7
BGMUT_330 phenoCommon non-secretor
BGMUT_330 protEffect 230delV
BGMUT_332 commonName GYPA N
BGMUT_332 phenoCommon N
BGMUT_332 protEffect S20L; G24E
BGMUT_334 commonName GYPB S
BGMUT_334 phenoCommon S
BGMUT_334 protEffect T48M
BGMUT_337 alias GYPA 78R
BGMUT_337 commonName GYP Erik/Sta
BGMUT_337 phenoCommon ERIK/Sta
BGMUT_337 protEffect G78R + /- DTHKRDT YAATPRA HEVSEISV RTVYPPEEET27-78del (sequence encoded by exon 3 is not expressed)
BGMUT_338 alias GYPA 84P
BGMUT_338 commonName GYP HAG
BGMUT_338 phenoCommon HAG
BGMUT_338 protEffect A84P
BGMUT_34 commonName O07
BGMUT_34 phenoCommon O
BGMUT_34 protEffect 88fs + truncation
BGMUT_35 commonName O08
BGMUT_35 phenoCommon O
BGMUT_35 protEffect P156L; 268fs; also 354fs (residues 269-354 are altered)
BGMUT_359 alias GYPB 161A
BGMUT_359 commonName GYP Mit
BGMUT_359 phenoCommon Mit
BGMUT_359 protEffect R54H
BGMUT_36 commonName O09
BGMUT_36 phenoCommon O
BGMUT_36 protEffect 88fs + truncation
BGMUT_361 alias GYPA 230T
BGMUT_361 commonName GYPA Mta
BGMUT_361 phenoCommon Mta
BGMUT_361 protEffect T77I
BGMUT_362 alias GYPB 65G
BGMUT_362 commonName GYPB M(V)
BGMUT_362 phenoCommon M(v)
BGMUT_362 protEffect T22S
BGMUT_363 alias GYPA 138A
BGMUT_363 commonName GYPA Nya
BGMUT_363 phenoCommon Nya
BGMUT_363 protEffect D46E
BGMUT_364 alias GYPA 217T
BGMUT_364 commonName GYPA Osa
BGMUT_364 phenoCommon Osa
BGMUT_364 protEffect P73S
BGMUT_365 alias GYPB 173G
BGMUT_365 commonName GYPB s(D)
BGMUT_365 phenoCommon s(D)
BGMUT_365 protEffect P58R
BGMUT_37 commonName O10
BGMUT_37 phenoCommon O
BGMUT_37 protEffect 88fs + truncation
BGMUT_373 alias GYPA 66Y
BGMUT_373 commonName GYP Vr
BGMUT_373 phenoCommon Vr
BGMUT_373 protEffect S66Y
BGMUT_375 commonName IGnTC 505A
BGMUT_375 phenoCommon adult i in Caucasians; no cataract
BGMUT_375 protEffect A169T
BGMUT_376 commonName IGnTC 683A
BGMUT_376 phenoCommon adult i in Caucasians; no cataract
BGMUT_376 protEffect R228Q
BGMUT_377 commonName IGnTC 816C
BGMUT_377 phenoCommon common I and adult i (the latter with congenital cataract)
BGMUT_377 protEffect E272D
BGMUT_379 alias IGnT 1043A
BGMUT_379 commonName IGnT A, B, C 1
BGMUT_379 phenoCommon adult i in Taiwanese; congenital cataract
BGMUT_379 protEffect G348E
BGMUT_38 alias O11 exonic
BGMUT_38 commonName O11
BGMUT_38 phenoCommon O
BGMUT_38 protEffect 88fs + truncation
BGMUT_380 alias IGnT 1148A
BGMUT_380 commonName IGnT A, B, C 2
BGMUT_380 phenoCommon adult i in Taiwanese; congenital cataract
BGMUT_380 protEffect R383H
BGMUT_382 commonName IGnTB 978A
BGMUT_382 phenoCommon adult i in Arabs (four families); congenital cataract
BGMUT_382 protEffect W326X
BGMUT_383 alias CD44 137C, 207C, 255C, 326C, 716A
BGMUT_383 commonName IN1 (In a)
BGMUT_383 phenoCommon In a+ b-
BGMUT_383 protEffect R46P; A69A; H85H; Y109S; G239E
BGMUT_387 alias 838A
BGMUT_387 commonName JKB
BGMUT_387 phenoCommon Jk(a-b+)
BGMUT_387 protEffect D280N
BGMUT_388 alias Delta 6
BGMUT_388 commonName JKB(BS)
BGMUT_388 phenoCommon Jk(a-b-)
BGMUT_388 protEffect 114-156 del (exon 6)
BGMUT_389 alias Delta 7
BGMUT_389 commonName JKB (LP)
BGMUT_389 phenoCommon Jk(a-b-)
BGMUT_389 protEffect 157-221 del (exon 7); fs + premature X
BGMUT_39 alias O11 intronic
BGMUT_39 commonName O11
BGMUT_39 phenoCommon O
BGMUT_390 commonName JKB 871C
BGMUT_390 phenoCommon Jk(a-b-)
BGMUT_390 protEffect S291P
BGMUT_391 commonName JKA (delta4, 5 + E*)
BGMUT_391 phenoCommon Jk(a-b-)
BGMUT_391 protEffect protein not expressed
BGMUT_392 alias 582G
BGMUT_392 commonName JKA Swiss
BGMUT_392 phenoCommon Jk(a-b-)
BGMUT_392 protEffect Y194X
BGMUT_393 commonName JKA English
BGMUT_393 phenoCommon Jk(a-b-)
BGMUT_393 protEffect protein not expressed
BGMUT_395 alias 578T
BGMUT_395 commonName KEL1 1
BGMUT_395 phenoCommon K1
BGMUT_395 protEffect T193M
BGMUT_396 alias 578G
BGMUT_396 commonName KEL1 2
BGMUT_396 phenoCommon K1
BGMUT_396 protEffect T193R
BGMUT_397 alias 577T; KEL 1-Ser193
BGMUT_397 commonName KEL1 3
BGMUT_397 phenoCommon K1; may also express K2
BGMUT_397 protEffect T193S
BGMUT_398 alias 841T
BGMUT_398 commonName KEL3
BGMUT_398 phenoCommon K3
BGMUT_398 protEffect R281W
BGMUT_399 alias 842A
BGMUT_399 commonName KEL21
BGMUT_399 phenoCommon K21
BGMUT_399 protEffect R281Q
BGMUT_4 commonName A102
BGMUT_4 phenoCommon A1
BGMUT_4 protEffect P156L
BGMUT_40 alias O12 exonic
BGMUT_40 commonName O12
BGMUT_40 phenoCommon O
BGMUT_40 protEffect 88fs + truncation
BGMUT_400 alias KEL 1790C, 1899G
BGMUT_400 commonName KEL6
BGMUT_400 phenoCommon K6; Jsa
BGMUT_400 protEffect L597P, L633L
BGMUT_401 alias 1481T
BGMUT_401 commonName KEL10
BGMUT_401 phenoCommon K10
BGMUT_401 protEffect E494V
BGMUT_402 alias 905C
BGMUT_402 commonName KEL17
BGMUT_402 phenoCommon K17
BGMUT_402 protEffect V302A
BGMUT_403 alias 1145G
BGMUT_403 commonName KEL23
BGMUT_403 protEffect Q382R
BGMUT_404 alias 539C
BGMUT_404 commonName KEL23
BGMUT_404 phenoCommon K24
BGMUT_404 protEffect R180P
BGMUT_405 alias KEL 1643G
BGMUT_405 commonName KEL12
BGMUT_405 phenoCommon K12
BGMUT_405 protEffect H548R
BGMUT_406 alias KEL 388T, 389A
BGMUT_406 commonName KEL18
BGMUT_406 phenoCommon K18
BGMUT_406 protEffect R130W; R130Q
BGMUT_407 alias KEL 1475A
BGMUT_407 commonName KEL19
BGMUT_407 phenoCommon K19
BGMUT_407 protEffect R492Q
BGMUT_408 alias KEL 965T
BGMUT_408 commonName KEL22
BGMUT_408 phenoCommon K-22
BGMUT_408 protEffect A322V
BGMUT_409 alias VLAN
BGMUT_409 commonName KEL25
BGMUT_409 phenoCommon VLAN
BGMUT_409 protEffect R248Q
BGMUT_41 alias O12 intronic
BGMUT_41 commonName O12
BGMUT_41 phenoCommon O
BGMUT_41 protEffect none
BGMUT_410 commonName KEL 742T
BGMUT_410 protEffect R248W
BGMUT_411 alias TOU
BGMUT_411 commonName KEL26
BGMUT_411 phenoCommon K26
BGMUT_411 protEffect R406Q
BGMUT_412 alias RAZ
BGMUT_412 commonName KEL27
BGMUT_412 phenoCommon RAZ
BGMUT_412 protEffect E249K
BGMUT_413 alias KEL 1268T
BGMUT_413 commonName KEL 20
BGMUT_413 phenoCommon K2 weak
BGMUT_413 protEffect A423V
BGMUT_415 alias KEL 1088A, 2030G
BGMUT_415 commonName KEL mod-2
BGMUT_415 protEffect S363N; Y677C
BGMUT_416 alias KEL 986C,1596A
BGMUT_416 commonName KEL mod-3
BGMUT_416 protEffect L329P; W532X
BGMUT_417 alias KEL 2107A, 1719T
BGMUT_417 commonName KEL mod-4
BGMUT_417 protEffect G703R
BGMUT_418 alias KEL intron3 1C
BGMUT_418 commonName Ko
BGMUT_418 phenoCommon Ko; Kell null
BGMUT_418 protEffect Protein not expressed.
BGMUT_419 alias KEL 382T
BGMUT_419 commonName Ko (Michigan, North Carolina)
BGMUT_419 phenoCommon Ko; Kell null
BGMUT_419 protEffect R128X
BGMUT_42 commonName O13
BGMUT_42 phenoCommon O
BGMUT_42 protEffect 88fs + truncation
BGMUT_420 alias KEL 246A
BGMUT_420 commonName Ko (Yougoslavia)
BGMUT_420 phenoCommon Ko; Kell null
BGMUT_420 protEffect C82X
BGMUT_421 alias KEL 1042T
BGMUT_421 commonName Ko (Portugal)
BGMUT_421 phenoCommon Ko; Kell null
BGMUT_421 protEffect Q348X
BGMUT_422 alias KEL 2027A
BGMUT_422 commonName Ko (Israel)
BGMUT_422 phenoCommon Ko; Kell null
BGMUT_422 protEffect S676N
BGMUT_423 alias KEL intron3 1A
BGMUT_423 commonName Ko (Reunion island, Seattle)
BGMUT_423 phenoCommon Ko; Kell null
BGMUT_423 protEffect Protein not expressed.
BGMUT_424 alias KEL 1088A
BGMUT_424 commonName Ko (Seattle, New York)
BGMUT_424 phenoCommon Ko; Kell null
BGMUT_424 protEffect S363N
BGMUT_425 alias KEL 574T,1088A
BGMUT_425 commonName Ko (New York)
BGMUT_425 phenoCommon Ko; Kell null
BGMUT_425 protEffect R192X
BGMUT_426 alias KEL 1377A
BGMUT_426 commonName Ko (Japan 1)
BGMUT_426 phenoCommon Ko; Kell null
BGMUT_426 protEffect W459X
BGMUT_427 alias KEL intron5 3'G
BGMUT_427 commonName Ko (Japan2)
BGMUT_427 phenoCommon Ko; Kell null
BGMUT_427 protEffect fs + termination
BGMUT_428 alias KEL 1420T
BGMUT_428 commonName Ko (Sweden1)
BGMUT_428 phenoCommon Ko; Kell null
BGMUT_428 protEffect Q474X
BGMUT_429 alias KEL 903delG
BGMUT_429 commonName Ko (Sweden2)
BGMUT_429 phenoCommon Ko; Kell null
BGMUT_429 protEffect 301fs
BGMUT_43 commonName O14
BGMUT_43 phenoCommon O
BGMUT_43 protEffect P156L; A298V
BGMUT_431 alias KN2; KNB
BGMUT_431 commonName CR1 4681A
BGMUT_431 phenoCommon Kn(b +)
BGMUT_431 protEffect V1561M
BGMUT_433 alias KN6; KN McCB
BGMUT_433 commonName CR1 4768G
BGMUT_433 phenoCommon McC(b +)
BGMUT_433 protEffect K1590E
BGMUT_435 alias KN VIL
BGMUT_435 commonName CR1 4801G
BGMUT_435 phenoCommon Vil + (Sl2)
BGMUT_435 protEffect R1601G
BGMUT_437 alias KN Sl3
BGMUT_437 commonName CR1 4828A
BGMUT_437 phenoCommon Sl3; needs Sl2 for expression
BGMUT_437 protEffect S1610T
BGMUT_439 alias KN L
BGMUT_439 commonName CR1 L
BGMUT_439 protEffect T445A; I684T; Q1022H; H1208R; I1615V; P1827R
BGMUT_44 commonName O15
BGMUT_44 phenoCommon O
BGMUT_44 protEffect Y309X
BGMUT_444 commonName CR1 180A
BGMUT_444 protEffect none
BGMUT_445 commonName CR1 954C
BGMUT_445 protEffect none
BGMUT_446 commonName CR1 1329G
BGMUT_446 protEffect none
BGMUT_447 commonName CR1 1333A
BGMUT_447 protEffect A445T
BGMUT_448 commonName CR1 2051C
BGMUT_448 protEffect I684T
BGMUT_449 commonName CR1 2340C
BGMUT_449 protEffect none
BGMUT_45 commonName O16
BGMUT_45 phenoCommon O
BGMUT_45 protEffect 88fs + truncation
BGMUT_450 commonName CR1 3066T
BGMUT_450 protEffect Q1022H
BGMUT_451 commonName CR1 3623G
BGMUT_451 protEffect H1208R
BGMUT_452 commonName CR 1 4014C
BGMUT_452 protEffect none
BGMUT_453 commonName CR1 4145C
BGMUT_453 protEffect S1382T
BGMUT_454 commonName CR1 4223T
BGMUT_454 protEffect T1408I
BGMUT_455 commonName CR1 4843G
BGMUT_455 phenoCommon KAM+
BGMUT_455 protEffect I1615V
BGMUT_456 commonName CR1 5397G
BGMUT_456 protEffect I1799M
BGMUT_457 commonName CR1 5480G
BGMUT_457 protEffect P1827R
BGMUT_458 commonName CR1 5548G
BGMUT_458 protEffect H1850D
BGMUT_459 commonName CR1 5627T
BGMUT_459 protEffect T1876I
BGMUT_46 commonName O17
BGMUT_46 phenoCommon O
BGMUT_46 protEffect 88fs + truncation
BGMUT_461 alias FUT3 47C, 508A
BGMUT_461 commonName le 47, 508 Sri Lanka
BGMUT_461 phenoCommon Lewis negative
BGMUT_461 protEffect C16S; G170S
BGMUT_462 alias FUT3 47C, 202C, 314T
BGMUT_462 commonName le47, 202, 314 Sri Lanka
BGMUT_462 phenoCommon Lewis negative
BGMUT_462 protEffect C16S; W68R; T105M
BGMUT_463 alias FUT3 59G, le3, le1 Indonesia (L1), Japan and Sweden (le3), Denmark (le1)
BGMUT_463 commonName L1
BGMUT_463 phenoCommon red cell Lewis negative; saliva Lewis positive
BGMUT_463 protEffect L20R
BGMUT_464 alias FUT3 1067A, le2 Indonesia(L2), Denmark (le2)
BGMUT_464 commonName Le2
BGMUT_464 phenoCommon negative
BGMUT_464 protEffect I356K
BGMUT_465 alias FUT3 59G, 508A
BGMUT_465 commonName le1, le4 Japan (le1), Denmark (le4)
BGMUT_465 phenoCommon negative
BGMUT_465 protEffect L20R; G170S
BGMUT_466 alias FUT3 59G, 1067A
BGMUT_466 commonName le2 Indonesia (le2), Japan (le3), Denmark
BGMUT_466 phenoCommon negative
BGMUT_466 protEffect L20R; I356K
BGMUT_467 alias FUT3 202C, 314T
BGMUT_467 commonName le5 Denmark and Sweden
BGMUT_467 phenoCommon negative
BGMUT_467 protEffect W68R; T105M
BGMUT_468 alias FUT3 202C, 1067A
BGMUT_468 commonName le6 Denmark
BGMUT_468 phenoCommon negative
BGMUT_468 protEffect W68R; I356K
BGMUT_469 commonName le7 Denmark and Sweden
BGMUT_469 phenoCommon negative
BGMUT_469 protEffect L20R; L149M
BGMUT_47 commonName O18
BGMUT_47 phenoCommon O
BGMUT_47 protEffect 88fs + truncation
BGMUT_470 alias FUT3 202C, 314T, 484A
BGMUT_470 commonName le Caucasian (South Africa)
BGMUT_470 phenoCommon negative
BGMUT_470 protEffect W68R; T105M; D162N
BGMUT_471 alias FUT3 484A, 667A
BGMUT_471 commonName le1 Africa (Xhosa)
BGMUT_471 phenoCommon negative
BGMUT_471 protEffect D162N; G227R
BGMUT_472 alias FUT3 484A, 667A, 808A
BGMUT_472 commonName le2 Africa (Xhosa)
BGMUT_472 phenoCommon negative
BGMUT_472 protEffect D162N; G227R; V270M
BGMUT_473 alias FUT3 760A
BGMUT_473 commonName Indonesia
BGMUT_473 phenoCommon negative
BGMUT_473 protEffect D254N
BGMUT_474 alias FUT3 304A
BGMUT_474 commonName Le Caucasian (South Africa)
BGMUT_474 phenoCommon positive
BGMUT_474 protEffect Q102K
BGMUT_475 alias FUT3 370G
BGMUT_475 commonName Le Africa (Xhosa)
BGMUT_475 phenoCommon positive
BGMUT_475 protEffect S124A
BGMUT_477 alias FUT6 370T, 730G, 907G
BGMUT_477 commonName Jakarta, Indonesia 1
BGMUT_477 protEffect P124S; L244V; R303G
BGMUT_478 alias FUT6 370T, 907G
BGMUT_478 commonName Jakarta, Indonesia 2
BGMUT_478 protEffect P124S; R303G
BGMUT_479 alias FUT6 370T, 739A
BGMUT_479 commonName M1, M2 Jakarta, Indonesia, Sweden
BGMUT_479 protEffect P124S; E247K
BGMUT_48 commonName O19
BGMUT_48 phenoCommon O
BGMUT_48 protEffect F216I; V277M
BGMUT_480 alias FUT6 739A, 945A
BGMUT_480 commonName M2, M4 Jakarta, Indonesia, Sweden
BGMUT_480 protEffect E247K; Y315X
BGMUT_482 alias FUT6 63A
BGMUT_482 commonName A2 Xhosa, Africa
BGMUT_482 protEffect L21L
BGMUT_483 alias FUT6 63A, 172A, 376T
BGMUT_483 commonName A3 Xhosa, Africa
BGMUT_483 protEffect L21L; A58T; R126W
BGMUT_484 alias FUT6 63A, 172A, 376T, 527T
BGMUT_484 commonName A4 Xhosa, Africa
BGMUT_484 protEffect L21L; A58T; R126W; G127V
BGMUT_485 alias FUT6 729C
BGMUT_485 commonName A5 Xhosa, Africa
BGMUT_485 protEffect Y243Y
BGMUT_486 alias FUT6 738T, 977A
BGMUT_486 commonName A6 Japan, Europe, Xhosa, Africa
BGMUT_486 protEffect F246F; R326Q
BGMUT_487 alias FUT6 1002G
BGMUT_487 commonName A7 Xhosa, Africa
BGMUT_487 protEffect L334L
BGMUT_488 alias FUT6 370T, 1002G
BGMUT_488 commonName A8 Xhosa, Africa
BGMUT_488 protEffect P124S; L334L
BGMUT_489 alias FUT6 370T, 907G, 1002G
BGMUT_489 commonName A9 Xhosa, Africa
BGMUT_489 protEffect P124S; R303G; L334L
BGMUT_49 commonName O20
BGMUT_49 phenoCommon O
BGMUT_49 protEffect F216I; V277M
BGMUT_490 alias FUT6 879T, 971T, 1002G
BGMUT_490 commonName A10 Xhosa, Africa
BGMUT_490 protEffect D293D; T324M; L334L
BGMUT_491 alias FUT6 855A, 1002G
BGMUT_491 commonName A11 Japan, Europe, Xhosa, Africa
BGMUT_491 protEffect P285P; L334L
BGMUT_492 alias FUT6 370T, 739A, 1002G
BGMUT_492 commonName B1 Xhosa, Africa
BGMUT_492 protEffect P124S; E247K; L334L
BGMUT_493 alias FUT6 370T, 739A, 945A, 1002G
BGMUT_493 commonName B2 Xhosa, Africa
BGMUT_493 protEffect P124S; E247K; Y315X
BGMUT_494 alias FUT6 18A, 336A, 499insC, 855A, 1002G
BGMUT_494 commonName B3 Xhosa, Africa
BGMUT_494 protEffect P6P; V112V; 167fs
BGMUT_495 alias FUT6 18A, 336A, 499insC, 855A, 977A, 1002G
BGMUT_495 commonName B4 Xhosa, Africa
BGMUT_495 protEffect P6P; V112V; 167fs
BGMUT_497 commonName FUT7 329A
BGMUT_497 protEffect R110E
BGMUT_498 alias LU 230A
BGMUT_498 commonName LUA, LU1
BGMUT_498 phenoCommon Lu(a + b-) or Lu(a + b +)
BGMUT_498 protEffect R77H
BGMUT_499 alias Lu 1615A
BGMUT_499 commonName AUA, LU18
BGMUT_499 phenoCommon Au(a + b-) or Au(a + b +)
BGMUT_499 protEffect A539T
BGMUT_5 commonName A103
BGMUT_5 phenoCommon A1
BGMUT_5 protEffect P156L; none
BGMUT_50 alias O21 exonic
BGMUT_50 commonName O21
BGMUT_50 phenoCommon O
BGMUT_50 protEffect fs + truncation
BGMUT_502 alias LU 524A
BGMUT_502 commonName LU--4
BGMUT_502 phenoCommon Lu-4
BGMUT_502 protEffect R175Q
BGMUT_503 alias LU 326A
BGMUT_503 commonName LU-5
BGMUT_503 phenoCommon Lu-5
BGMUT_503 protEffect R109H
BGMUT_504 alias LU 824T
BGMUT_504 commonName LU9
BGMUT_504 phenoCommon Lu9
BGMUT_504 protEffect S275F
BGMUT_505 alias LU 1878T
BGMUT_505 commonName LU-11
BGMUT_505 phenoCommon Lu-11
BGMUT_505 protEffect D626D
BGMUT_506 alias LU 611A
BGMUT_506 commonName LU14
BGMUT_506 phenoCommon Lu14
BGMUT_506 protEffect M204K
BGMUT_507 alias LU 99-104del
BGMUT_507 commonName LU-12 99del
BGMUT_507 phenoCommon Lu-12
BGMUT_507 protEffect R34; L35del
BGMUT_508 alias LU 419A
BGMUT_508 commonName LU-12 419A
BGMUT_508 phenoCommon Lu-12
BGMUT_508 protEffect R140Q
BGMUT_509 commonName LU-13
BGMUT_509 phenoCommon Lu-13
BGMUT_509 protEffect S447L; Q581L
BGMUT_51 alias O21 intronic
BGMUT_51 commonName O21
BGMUT_51 phenoCommon O
BGMUT_510 alias LU 679T
BGMUT_510 commonName LU-16
BGMUT_510 phenoCommon Lu-16
BGMUT_510 protEffect R227C
BGMUT_511 commonName LU-17
BGMUT_511 phenoCommon Lu-17
BGMUT_511 protEffect E114K
BGMUT_512 alias LU 905T
BGMUT_512 commonName LU-20
BGMUT_512 phenoCommon Lu-20
BGMUT_512 protEffect T302M
BGMUT_513 alias LU 282G
BGMUT_513 commonName LU-21
BGMUT_513 phenoCommon Lu-21
BGMUT_513 protEffect D94E
BGMUT_514 commonName LU 711A
BGMUT_514 phenoCommon Lu a-b-
BGMUT_514 protEffect C237X
BGMUT_516 alias LW 299G; LW7
BGMUT_516 commonName LWB
BGMUT_516 phenoCommon LW(a-b+) or LW(a+b+)
BGMUT_516 protEffect Q100R
BGMUT_517 alias LW 346del
BGMUT_517 commonName LW Big
BGMUT_517 phenoCommon LW(a-b-)
BGMUT_517 protEffect 116del; 118X
BGMUT_519 alias BSG 370T
BGMUT_519 commonName OK1
BGMUT_519 phenoCommon Ok(a +)
BGMUT_519 protEffect none
BGMUT_52 commonName O22
BGMUT_52 phenoCommon O
BGMUT_52 protEffect 88fs + truncation
BGMUT_520 alias BSG 274A
BGMUT_520 commonName OK2
BGMUT_520 phenoCommon Ok(a-)
BGMUT_520 protEffect E92K
BGMUT_521 alias BSG 176T,195T,234G
BGMUT_521 commonName OK (SM)
BGMUT_521 phenoCommon Ok(a-)
BGMUT_521 protEffect G59V
BGMUT_522 alias BSG 327C
BGMUT_522 commonName OK3
BGMUT_522 phenoCommon OK(a +)
BGMUT_522 protEffect none
BGMUT_524 alias p 68insT
BGMUT_524 commonName A4GALT 68insT
BGMUT_524 phenoCommon p
BGMUT_524 protEffect L23fs; 53X
BGMUT_525 alias p 237 delCTT
BGMUT_525 commonName A4GALT 237 delCTT
BGMUT_525 phenoCommon p
BGMUT_525 protEffect F80del
BGMUT_526 alias p 241 delTTC
BGMUT_526 commonName A4GALT 241 delTTC
BGMUT_526 phenoCommon p
BGMUT_526 protEffect F81del
BGMUT_527 alias p 287A
BGMUT_527 commonName A4GALT 287A
BGMUT_527 phenoCommon p
BGMUT_527 protEffect C96Y
BGMUT_528 alias p 109G; 290T
BGMUT_528 commonName A4GALT 109G; 290T
BGMUT_528 phenoCommon p
BGMUT_528 protEffect S97L; M37V; T329T
BGMUT_529 alias p 300delG
BGMUT_529 commonName A4GALT 300delG
BGMUT_529 phenoCommon p
BGMUT_529 protEffect 101fs
BGMUT_53 commonName O23
BGMUT_53 phenoCommon O
BGMUT_53 protEffect 88fs + truncation
BGMUT_530 alias p 470ins
BGMUT_530 commonName A4GALT 470ins
BGMUT_530 phenoCommon p
BGMUT_530 protEffect 157fs
BGMUT_531 alias p 473A
BGMUT_531 commonName A4GALT 473A
BGMUT_531 phenoCommon p
BGMUT_531 protEffect W158X
BGMUT_532 alias p 502insC, 914T
BGMUT_532 commonName A4GALT 502insC, 914T
BGMUT_532 phenoCommon p
BGMUT_532 protEffect 167fs; 281X; P305P
BGMUT_533 alias p 548A
BGMUT_533 commonName A4GALT 548A
BGMUT_533 phenoCommon p
BGMUT_533 protEffect M183K
BGMUT_534 alias p 548A, 987A
BGMUT_534 commonName A4GALT 548A, 987A
BGMUT_534 phenoCommon p
BGMUT_534 protEffect M183K
BGMUT_535 alias p 560A
BGMUT_535 commonName A4GALT 560A
BGMUT_535 phenoCommon p
BGMUT_535 protEffect G187D
BGMUT_536 alias p 656T
BGMUT_536 commonName A4GALT 656T
BGMUT_536 phenoCommon p
BGMUT_536 protEffect A219V
BGMUT_537 alias p 657delG
BGMUT_537 commonName A4GALT 657delG
BGMUT_537 phenoCommon p
BGMUT_537 protEffect A219fs; 348X
BGMUT_538 alias p 733insG, 903G
BGMUT_538 commonName A4GALT 733insG, 903G
BGMUT_538 phenoCommon p
BGMUT_538 protEffect 245fs; P301P
BGMUT_539 alias p 751T
BGMUT_539 commonName A4GALT 751T
BGMUT_539 phenoCommon p
BGMUT_539 protEffect P251S
BGMUT_54 commonName O24
BGMUT_54 phenoCommon O
BGMUT_54 protEffect 88fs + truncation
BGMUT_540 alias p 752T
BGMUT_540 commonName A4GALT 752T
BGMUT_540 phenoCommon p
BGMUT_540 protEffect P251L
BGMUT_541 alias p 752T, 903G
BGMUT_541 commonName A4GALT 752T, 903G
BGMUT_541 phenoCommon p
BGMUT_541 protEffect P251L; P301P
BGMUT_542 alias p 109G, 903G, 987A
BGMUT_542 commonName A4GALT 109G, 903G, 987A
BGMUT_542 phenoCommon p
BGMUT_542 protEffect M37V; P301 P; T329T
BGMUT_543 alias p 972-997del
BGMUT_543 commonName A4GALT 972-997del
BGMUT_543 phenoCommon p
BGMUT_543 protEffect 331fs; extra 83 aa residues
BGMUT_544 alias p 972-997del, 109G, 903G
BGMUT_544 commonName A4GALT 972-997del, 109G, 903G
BGMUT_544 phenoCommon p
BGMUT_544 protEffect 331fs: extra 83 aa residues; M37V; P301P
BGMUT_545 alias p 769delG, 903G
BGMUT_545 commonName A4GALT 769delG, 903G
BGMUT_545 phenoCommon p
BGMUT_545 protEffect 256fs
BGMUT_546 alias p 783A
BGMUT_546 commonName A4GALT 783A
BGMUT_546 phenoCommon p
BGMUT_546 protEffect W261X
BGMUT_547 alias p 902 delC
BGMUT_547 commonName A4GALT 902 delC
BGMUT_547 phenoCommon p
BGMUT_547 protEffect 301fs; 349X
BGMUT_548 alias p 1026insC
BGMUT_548 commonName A4GALT 1026insC
BGMUT_548 phenoCommon p
BGMUT_548 protEffect 342fs
BGMUT_549 alias P2 -550insC
BGMUT_549 commonName A4GALT -550insC
BGMUT_549 phenoCommon P2
BGMUT_549 protEffect none
BGMUT_55 commonName O25
BGMUT_55 phenoCommon O
BGMUT_55 protEffect 88fs + truncation
BGMUT_550 alias P2 -160G
BGMUT_550 commonName A4GALT -160G
BGMUT_550 phenoCommon P2
BGMUT_550 protEffect none
BGMUT_552 commonName B3GALT3 202T
BGMUT_552 phenoCommon P2k
BGMUT_552 protEffect 67X
BGMUT_553 commonName B3GALT3 292-293insT
BGMUT_553 phenoCommon P1k
BGMUT_553 protEffect 97fs; 102X
BGMUT_554 commonName B3GALT3 433T
BGMUT_554 phenoCommon P1k
BGMUT_554 protEffect R145X
BGMUT_555 commonName B3GALT3 538insA
BGMUT_555 phenoCommon P2k
BGMUT_555 protEffect 180fs; 182X
BGMUT_556 commonName B3GALT3 648C
BGMUT_556 phenoCommon P1k
BGMUT_556 protEffect R216S
BGMUT_557 commonName B3GALT3 797C
BGMUT_557 phenoCommon P2k
BGMUT_557 protEffect E266A
BGMUT_558 commonName B3GALT3 811A
BGMUT_558 phenoCommon P1k
BGMUT_558 protEffect G271R
BGMUT_559 commonName B3GALT3 959A
BGMUT_559 phenoCommon P1k
BGMUT_559 protEffect W319X
BGMUT_56 alias Ovar.tlse02; O26 exonic
BGMUT_56 commonName O26
BGMUT_56 phenoCommon O
BGMUT_56 protEffect 88fs + truncation
BGMUT_563 alias RHD 1060A
BGMUT_563 commonName RHD II
BGMUT_563 phenoCommon DII
BGMUT_563 protEffect A354N
BGMUT_564 alias RHD 455C; 602G; 667G
BGMUT_564 commonName RHD IIIa
BGMUT_564 phenoCommon DIIIa
BGMUT_564 protEffect N152T; T201R; F223V
BGMUT_567 alias RHD 186T, 410T, 455C
BGMUT_567 commonName RHD III type 4
BGMUT_567 phenoCommon DIII type4
BGMUT_567 protEffect L62F; A137V; N152T
BGMUT_568 commonName RHD III type 5
BGMUT_568 phenoCommon DIII type5
BGMUT_568 protEffect L62F; A137V; N152T; T201R; F223V
BGMUT_570 alias RHD (186T, 455C, 1048C)
BGMUT_570 commonName RHD IVa
BGMUT_570 phenoCommon DIVa
BGMUT_570 protEffect L62F; N152T; D350H
BGMUT_573 alias RHD 667G, 697C
BGMUT_573 commonName RHD
BGMUT_573 phenoCommon DVa
BGMUT_573 protEffect F223V; E233Q
BGMUT_575 commonName RHD Va 2
BGMUT_575 phenoCommon DVa
BGMUT_575 protEffect F223V; E233Q; V238M; V425L
BGMUT_576 alias RHD 697A
BGMUT_576 commonName RHD Va 3
BGMUT_576 phenoCommon DVa
BGMUT_576 protEffect E233Q
BGMUT_58 commonName O27
BGMUT_58 phenoCommon O
BGMUT_58 protEffect 88fs + truncation
BGMUT_580 alias RHD 329C
BGMUT_580 commonName RHD VII
BGMUT_580 phenoCommon DVII
BGMUT_580 protEffect L110P
BGMUT_581 alias RHD 307C, 329C
BGMUT_581 commonName RHD VII-like
BGMUT_581 phenoCommon DVII-like
BGMUT_581 protEffect S103P; L110P
BGMUT_582 alias RHD 602G, 667G, 1025C
BGMUT_582 commonName RHD DAR
BGMUT_582 phenoCommon DAR
BGMUT_582 protEffect T201R; F223V; I342T
BGMUT_583 alias RHD 505C, 509G, 514T (RHD1-3 CE4 D5-10)
BGMUT_583 commonName RHD DFR-1
BGMUT_583 phenoCommon DFR
BGMUT_583 protEffect M169L; M170R; I172F
BGMUT_587 alias RHD 848T
BGMUT_587 commonName RHD DHMi
BGMUT_587 phenoCommon DHMi
BGMUT_587 protEffect T283I
BGMUT_588 alias RHD 854A
BGMUT_588 commonName RHD DIM
BGMUT_588 phenoCommon DIM
BGMUT_588 protEffect C285Y
BGMUT_589 alias RHD 1057A
BGMUT_589 commonName RHD DNU (DNB)
BGMUT_589 phenoCommon DNU (DNB)
BGMUT_589 protEffect G353R
BGMUT_59 commonName O28
BGMUT_59 phenoCommon O
BGMUT_59 protEffect 88fs + truncation
BGMUT_590 alias RHD 497C
BGMUT_590 commonName RHD DFW
BGMUT_590 phenoCommon DFW
BGMUT_590 protEffect H166P
BGMUT_591 alias RHD 1063A
BGMUT_591 commonName RHD DNB
BGMUT_591 phenoCommon DNB
BGMUT_591 protEffect G355S
BGMUT_592 alias RHD 621C
BGMUT_592 commonName RHD DMA
BGMUT_592 phenoCommon DMA
BGMUT_592 protEffect L207F
BGMUT_593 alias RHD 1073T
BGMUT_593 commonName RHD DWI
BGMUT_593 phenoCommon DWI
BGMUT_593 protEffect M358T
BGMUT_594 alias RHD 680C
BGMUT_594 commonName RHD DBA
BGMUT_594 phenoCommon DBA
BGMUT_594 protEffect L227P
BGMUT_595 alias RHD 851T
BGMUT_595 commonName RHD DLO
BGMUT_595 phenoCommon DLO
BGMUT_595 protEffect S284L
BGMUT_596 commonName RHD 384C
BGMUT_596 protEffect no change
BGMUT_598 alias RHD 8G
BGMUT_598 commonName RHD weak D type 3
BGMUT_598 phenoCommon weak D(Du) type 3
BGMUT_598 protEffect S3C
BGMUT_599 alias RHD 29A
BGMUT_599 commonName RHD weak D(Du) type 6
BGMUT_599 phenoCommon weak D(Du) type 6
BGMUT_599 protEffect R10Q
BGMUT_6 commonName A104
BGMUT_6 phenoCommon A1
BGMUT_6 protEffect T99T
BGMUT_60 commonName O29
BGMUT_60 phenoCommon O
BGMUT_60 protEffect 88fs + truncation
BGMUT_600 alias RHD 446A
BGMUT_600 commonName RHD weak D(Du) type 5
BGMUT_600 phenoCommon weak D(Du) type5
BGMUT_600 protEffect A149D
BGMUT_601 alias RHD 658C
BGMUT_601 commonName RHD weak D type 16
BGMUT_601 phenoCommon weak D(Du) type16
BGMUT_601 protEffect W220R
BGMUT_602 alias RHD 809G
BGMUT_602 commonName RHD weak D type 1
BGMUT_602 phenoCommon weak D(Du) type 1
BGMUT_602 protEffect V270G
BGMUT_603 alias RHD 826C
BGMUT_603 commonName RHD weak D type 13
BGMUT_603 phenoCommon weak D(Du) type 13
BGMUT_603 protEffect A276P
BGMUT_604 alias RHD 830A
BGMUT_604 commonName RHD weak D type 12
BGMUT_604 phenoCommon weak D(Du) type 12
BGMUT_604 protEffect G277E
BGMUT_605 alias RHD 845A
BGMUT_605 commonName RHD weak D type 15
BGMUT_605 phenoCommon weak D(Du) type 15
BGMUT_605 protEffect G282D
BGMUT_606 alias RHD 880C
BGMUT_606 commonName RHD weak D(Du) type 9
BGMUT_606 phenoCommon weak D(Du) type 9
BGMUT_606 protEffect A294P
BGMUT_607 alias RHD 885
BGMUT_607 commonName RHD weak D type 11
BGMUT_607 phenoCommon weak D(Du) type 11
BGMUT_607 protEffect M295I
BGMUT_608 alias RHD 919A
BGMUT_608 commonName RHD weak D(Du) type 8
BGMUT_608 phenoCommon weak D(Du) type 8
BGMUT_608 protEffect G307R
BGMUT_609 alias RHD 1016A
BGMUT_609 commonName RHD weak D(Du) type 7
BGMUT_609 phenoCommon weak D(Du) type 7
BGMUT_609 protEffect G339E
BGMUT_61 commonName O30
BGMUT_61 phenoCommon O
BGMUT_61 protEffect 88fs + truncation
BGMUT_610 alias RHD 1154A
BGMUT_610 commonName RHD weak D type 2
BGMUT_610 phenoCommon weak D(Du) type 2
BGMUT_610 protEffect G385A
BGMUT_611 alias RHD 1177C
BGMUT_611 commonName RHD weak D type 10
BGMUT_611 phenoCommon weak D(Du) type 10
BGMUT_611 protEffect W393R
BGMUT_612 alias RHD 602G, 667G
BGMUT_612 commonName RHD weak D type 4 a
BGMUT_612 phenoCommon weak D(Du) type 4
BGMUT_612 protEffect T201R; F223V
BGMUT_613 commonName RHD weak D type 4 b
BGMUT_613 phenoCommon weak D(Du) type 4
BGMUT_613 protEffect T201R; F223V
BGMUT_614 commonName RHD weak D type 4. 1
BGMUT_614 phenoCommon weak D(Du) type 4. 1
BGMUT_614 protEffect W16C; T201R; F223V
BGMUT_615 commonName RHD weak D type 4. 21
BGMUT_615 phenoCommon weak D(Du) type 4. 21
BGMUT_615 protEffect T201R; F223V; I342T
BGMUT_616 commonName RHD weak D(Du) type 4. 22
BGMUT_616 phenoCommon weak D(Du) type 4. 22
BGMUT_616 protEffect T201R; F223V; I342T
BGMUT_617 alias RHD 340T
BGMUT_617 commonName RHD weak D type 17
BGMUT_617 phenoCommon weak D(Du) type 17
BGMUT_617 protEffect R114W
BGMUT_618 commonName RHD weak D type 29
BGMUT_618 phenoCommon weak D(Du) type 29
BGMUT_618 protEffect I60L; S68N; K198N; F223V; I342T
BGMUT_619 commonName RHD weak D type 14
BGMUT_619 phenoCommon weak D(Du) type 14
BGMUT_619 protEffect S182T; K198N; T201R
BGMUT_62 commonName O31
BGMUT_62 phenoCommon O
BGMUT_62 protEffect 88fs + truncation
BGMUT_620 alias RHD 634T
BGMUT_620 commonName RHD weak D type 23
BGMUT_620 phenoCommon weak D type 23
BGMUT_620 protEffect G212C
BGMUT_621 alias RHD 1013C
BGMUT_621 commonName RHD weak D type 24
BGMUT_621 phenoCommon weak D type 24
BGMUT_621 protEffect L338P
BGMUT_622 alias RHD 26A
BGMUT_622 commonName RHD weak D type 26
BGMUT_622 phenoCommon weakD type 26
BGMUT_622 protEffect V9D
BGMUT_623 alias RHD 399T
BGMUT_623 commonName RHD weak D type 37
BGMUT_623 phenoCommon weak D type 37
BGMUT_623 protEffect K133N
BGMUT_624 alias RHD 833A
BGMUT_624 commonName RHD weak D type 38
BGMUT_624 phenoCommon weak D type 38
BGMUT_624 protEffect G278E
BGMUT_625 alias RHD 1015A
BGMUT_625 commonName RHD weak D type 39
BGMUT_625 phenoCommon weak D type 39
BGMUT_625 protEffect G339R
BGMUT_626 alias RHD 520A
BGMUT_626 commonName RHD weak D type33 (Taiwan1)
BGMUT_626 phenoCommon weak D Taiwan 1
BGMUT_626 protEffect V174M
BGMUT_627 alias RHD 809A
BGMUT_627 commonName RHD weak D type Taiwan2
BGMUT_627 phenoCommon weak D Taiwan 2
BGMUT_627 protEffect V270M
BGMUT_628 alias RHD 1136T
BGMUT_628 commonName RHD DAU-0
BGMUT_628 phenoCommon DAU-0 (European)
BGMUT_628 protEffect T379M
BGMUT_629 alias RHD 579A, 1136T
BGMUT_629 commonName RHD DAU-0. 1
BGMUT_629 phenoCommon DAU-0. 1(African)
BGMUT_629 protEffect T379M
BGMUT_63 commonName O32
BGMUT_63 phenoCommon O
BGMUT_63 protEffect 88fs + truncation
BGMUT_630 alias RHD 689T, 1136T
BGMUT_630 commonName RHD DAU-1
BGMUT_630 phenoCommon DAU-1 (African)
BGMUT_630 protEffect S230I; T379M
BGMUT_631 alias RHD 209A, 998A, 1136T
BGMUT_631 commonName RHD DAU-2
BGMUT_631 phenoCommon DAU-2 (African)
BGMUT_631 protEffect R70Q; S333N; T379M
BGMUT_632 alias RHD 835A, 1136T
BGMUT_632 commonName RHD DAU-3
BGMUT_632 phenoCommon DAU-3 (African)
BGMUT_632 protEffect V279M; T379M
BGMUT_633 alias RHD 697A, 1136T
BGMUT_633 commonName RHD DAU- 4
BGMUT_633 phenoCommon DAU-4 (African)
BGMUT_633 protEffect E233K; T379M
BGMUT_637 alias RHD 121T
BGMUT_637 commonName RHD neg2
BGMUT_637 phenoCommon D negative
BGMUT_637 protEffect Q41X
BGMUT_639 alias RHD 600delG
BGMUT_639 commonName RHD neg4
BGMUT_639 phenoCommon D negative
BGMUT_639 protEffect 228X
BGMUT_64 commonName O33
BGMUT_64 phenoCommon O
BGMUT_64 protEffect 88fs + truncation
BGMUT_645 alias RHD 47A
BGMUT_645 commonName RHD neg(Cde)3
BGMUT_645 phenoCommon D negative (Cde)
BGMUT_645 protEffect W16X
BGMUT_646 alias RHD 635T
BGMUT_646 commonName RHD neg(Cde)4
BGMUT_646 phenoCommon D negative (Cde)
BGMUT_646 protEffect G212V
BGMUT_647 alias RHD intron 8 1A
BGMUT_647 commonName RHD neg(Cde)5
BGMUT_647 phenoCommon D negative (Cde)
BGMUT_648 alias RHD 269A
BGMUT_648 commonName RHD neg6
BGMUT_648 phenoCommon D negative
BGMUT_648 protEffect W90X
BGMUT_65 commonName O34
BGMUT_65 phenoCommon O
BGMUT_65 protEffect 88fs + truncation
BGMUT_650 alias RHD 906ins
BGMUT_650 commonName RHD neg8
BGMUT_650 phenoCommon D negative
BGMUT_650 protEffect fs
BGMUT_651 alias RHD 933A
BGMUT_651 commonName RHD neg9
BGMUT_651 phenoCommon D neg
BGMUT_651 protEffect 311X
BGMUT_652 alias RHD intron 2 1A
BGMUT_652 commonName RHD neg10
BGMUT_652 phenoCommon D neg
BGMUT_652 protEffect exon2 is absent
BGMUT_653 alias RHD 554A
BGMUT_653 commonName RHD neg11
BGMUT_653 phenoCommon D neg
BGMUT_653 protEffect W185X
BGMUT_657 alias RHD 1222C
BGMUT_657 commonName RHD DEL
BGMUT_657 phenoCommon D-el
BGMUT_657 protEffect W408R
BGMUT_658 alias RHD intron 3 1A
BGMUT_658 commonName RHD DEL (Cde)1
BGMUT_658 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology.
BGMUT_658 protEffect none
BGMUT_659 alias RHD 885T
BGMUT_659 commonName RHD DEL (Cde)2
BGMUT_659 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology.
BGMUT_659 protEffect M295I
BGMUT_66 alias Ovar1
BGMUT_66 commonName O35
BGMUT_66 phenoCommon O
BGMUT_66 protEffect V36F R63H P74S 88fs + truncation
BGMUT_660 alias RHD intron 9 1A; 1227A
BGMUT_660 commonName RHD DEL (Cde)3
TP53_g.12487_12488del commonName del2
BGMUT_660 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology.
BGMUT_660 protEffect K409K
BGMUT_661 alias RHD intron 5 38del CTCT
BGMUT_661 commonName RHD DEL (Cde)4
BGMUT_661 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology.
BGMUT_661 protEffect none
BGMUT_662 alias RHD 1252insT
BGMUT_662 commonName RHD DEL (Cde)5
BGMUT_662 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology.
BGMUT_662 protEffect X418L
BGMUT_663 alias RHD 1203A
BGMUT_663 commonName RHD DEL (Cde)6
BGMUT_663 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology.
BGMUT_663 protEffect Y401X
BGMUT_668 alias RHCE 500A
BGMUT_668 commonName RHCE EI,Ew
BGMUT_668 phenoCommon EI;Ew
BGMUT_668 protEffect M167K
BGMUT_67 alias Ovar2
BGMUT_67 commonName O36
BGMUT_67 phenoCommon O
BGMUT_67 protEffect V36F R63H P74S 88fs + truncation
BGMUT_671 alias RHcE 697G, 712G
BGMUT_671 commonName RHCE EIII
BGMUT_671 phenoCommon EIII
BGMUT_671 protEffect Q233E; M238V
BGMUT_673 alias RHCE 733G
BGMUT_673 commonName RHCE VS
BGMUT_673 phenoCommon VS
BGMUT_673 protEffect L245V
BGMUT_674 alias RHCE 106A
BGMUT_674 commonName RHCE CX
BGMUT_674 phenoCommon CX
BGMUT_674 protEffect A36T
BGMUT_675 alias RHcE 602C
BGMUT_675 commonName RHCE EIV
BGMUT_675 phenoCommon EIV
BGMUT_675 protEffect R201T
BGMUT_676 alias RHCE 461C
BGMUT_676 commonName RHCE EV/EKH; also RHCE ceRT
BGMUT_676 phenoCommon EV/EKH; also ceRT, expresses D epitope 6
BGMUT_676 protEffect R154T
BGMUT_677 alias RHCE122G
BGMUT_677 commonName RHCE CW
BGMUT_677 phenoCommon CW
BGMUT_677 protEffect Q41R
BGMUT_678 alias RHce 286A
BGMUT_678 commonName RHCE Rh-26
BGMUT_678 phenoCommon ce variant c+Rh:-26
BGMUT_678 protEffect G96S
BGMUT_68 commonName O39
BGMUT_68 phenoCommon O
BGMUT_68 protEffect P74S; 88fs + truncation
BGMUT_680 alias RHce 48C, 712G, 733G, 787G, 800A, 916G
BGMUT_680 commonName RHce ceAR
BGMUT_680 phenoCommon ceAR
BGMUT_680 protEffect W16C; M239V; L245V; R263G; M267K; I306V
BGMUT_681 alias Rhce 48C, 667T
BGMUT_681 commonName Rhce ceMO
BGMUT_681 phenoCommon ceMO (hrS-neg; altered expression of e)
BGMUT_681 protEffect W16C; V223F
BGMUT_69 commonName O40
BGMUT_69 phenoCommon O
BGMUT_69 protEffect V36F; R63H; 88fs + truncation
BGMUT_691 alias RHCE 685-687del
BGMUT_691 commonName RHCE Dc-ceBP
BGMUT_691 phenoCommon Dc-ceBP
BGMUT_691 protEffect R229del
BGMUT_696 alias RHcE 350-358del
BGMUT_696 commonName RHCE-cEMI
BGMUT_696 phenoCommon cEMI (silent RHE)
BGMUT_696 protEffect A120-S122del
BGMUT_698 alias RHCE intron 4: 1T
BGMUT_698 commonName RHCE null amorph 2
BGMUT_698 phenoCommon Rh null amorph
BGMUT_699 alias RHce 80-84del
BGMUT_699 commonName RHCE null amorph 3
BGMUT_699 phenoCommon Rh null amorph
BGMUT_699 protEffect L31X
BGMUT_7 commonName A105
BGMUT_7 phenoCommon A1
BGMUT_7 protEffect P156L
BGMUT_70 alias O1-vB, tlse13
BGMUT_70 commonName O41
BGMUT_70 phenoCommon O
BGMUT_70 protEffect 88fs + truncation
BGMUT_702 alias RHAG 236A
BGMUT_702 commonName RH mod (VL)
BGMUT_702 phenoCommon Rh mod (VL)
BGMUT_702 protEffect S79N
BGMUT_703 alias RHAG 3T
BGMUT_703 commonName RH mod (SM)
BGMUT_703 phenoCommon Rh mod (SM)
BGMUT_703 protEffect M1I
BGMUT_704 alias RHAG 1183delA
BGMUT_704 commonName RH mod (Japan)
BGMUT_704 phenoCommon Rh mod (Japanese)
BGMUT_704 protEffect N395fs
BGMUT_705 alias RHAG 836A
BGMUT_705 commonName RH null reg (YT)
BGMUT_705 phenoCommon Rh null (YT) reg
BGMUT_705 protEffect G279E
BGMUT_706 alias RHAG 808A, 838A
BGMUT_706 commonName RH null reg (HT)
BGMUT_706 phenoCommon Rh null (HT) reg
BGMUT_706 protEffect V270I; G280R
BGMUT_707 commonName RH null reg (AC)
BGMUT_707 phenoCommon Rh null (AC) reg
BGMUT_707 protEffect Exon 7 skipped.
BGMUT_709 commonName RH null reg (AL)
BGMUT_709 phenoCommon Rh null (AL) reg
BGMUT_709 protEffect protein not expressed
BGMUT_71 alias O1-vB, tlse14
BGMUT_71 commonName O42
BGMUT_71 phenoCommon O
BGMUT_71 protEffect 88fs + truncation
BGMUT_710 alias RHAG intron 7 1A
BGMUT_710 commonName RH null reg (TT)
BGMUT_710 phenoCommon Rh null (TT) reg
BGMUT_711 alias RHAG 1139T
BGMUT_711 commonName RH null reg (WO)
BGMUT_711 phenoCommon Rh null (WO) reg
BGMUT_711 protEffect G380V
BGMUT_712 commonName RhCe polypeptide; Rh30
BGMUT_712 phenoCommon RhCe
BGMUT_712 protEffect W16C; L60I; N68S; P103S
BGMUT_713 commonName RhCE polypeptide; Rh30
BGMUT_713 phenoCommon RhCE
BGMUT_713 protEffect W16C; L60I; N68S; P103S; A226P
BGMUT_714 alias RHcE 676C
BGMUT_714 commonName RhcE polypeptide; Rh30
BGMUT_714 phenoCommon RhcE
BGMUT_714 protEffect A226P
BGMUT_72 alias Ov7.1
BGMUT_72 commonName O43
BGMUT_72 phenoCommon O
BGMUT_72 protEffect 88fs + truncation
BGMUT_724 alias XK intron 2 5A
BGMUT_724 commonName XK (MD)
BGMUT_724 phenoCommon McLeod syndrome
BGMUT_724 protEffect none
BGMUT_725 alias XK 268del
BGMUT_725 commonName XK (L)
BGMUT_725 phenoCommon McLeod syndrome
BGMUT_725 protEffect Y90fs
BGMUT_726 alias XK intron 1 1C
BGMUT_726 commonName XK (non-CGD)
BGMUT_726 phenoCommon McLeod syndrome
BGMUT_726 protEffect no protein (on membrane)
BGMUT_73 alias Ov7.2
BGMUT_73 commonName O44
BGMUT_73 phenoCommon O
BGMUT_73 protEffect 88fs + truncation
BGMUT_735 alias XK 686del
BGMUT_735 commonName XK 1
BGMUT_735 phenoCommon McLeod syndrome
BGMUT_735 protEffect 229fs + 264X
BGMUT_736 alias XK 771del
BGMUT_736 commonName XK 2
BGMUT_736 phenoCommon McLeod syndrome
BGMUT_736 protEffect 257fs + 267X
BGMUT_737 alias XK 856del
BGMUT_737 commonName XK 3
BGMUT_737 phenoCommon McLeod syndrome
BGMUT_737 protEffect 286fs + 301X
BGMUT_738 alias XK 938del
BGMUT_738 commonName XK 4
BGMUT_738 phenoCommon McLeod syndrome
BGMUT_738 protEffect 313fs + 336X
BGMUT_74 alias Ovar, tlse51
BGMUT_74 commonName O45
BGMUT_74 phenoCommon O
BGMUT_74 protEffect 88fs + truncation
BGMUT_740 alias XK 1013delT
BGMUT_740 commonName XK (Japan 1)
BGMUT_740 phenoCommon McLeod syndrome
BGMUT_740 protEffect fs + 408X
BGMUT_742 alias XK intron 1 1C
BGMUT_742 commonName XK (New Mexico; Ohio)
BGMUT_742 phenoCommon McLeod syndrome
BGMUT_743 alias XK 107A
BGMUT_743 commonName XK 6
BGMUT_743 phenoCommon McLeod syndrome
BGMUT_743 protEffect W36X
BGMUT_744 alias XK 397T
BGMUT_744 commonName XK 7
BGMUT_744 phenoCommon McLeod syndrome
BGMUT_744 protEffect R133X
BGMUT_745 alias XK 155X
BGMUT_745 commonName XK 8
BGMUT_745 phenoCommon McLeod syndrome
BGMUT_745 protEffect Q155X
BGMUT_746 alias XK 236X
BGMUT_746 commonName XK 9
BGMUT_746 phenoCommon McLeod syndrome
BGMUT_746 protEffect W236X
BGMUT_747 alias XK 880C
BGMUT_747 commonName XK 10
BGMUT_747 phenoCommon McLeod syndrome
BGMUT_747 protEffect C294R
BGMUT_748 alias XK 895T
BGMUT_748 commonName XK (Switzerland 1)
BGMUT_748 phenoCommon McLeod syndrome
BGMUT_748 protEffect Q299X
BGMUT_749 alias XK 664G
BGMUT_749 commonName XK (NYC)
BGMUT_749 phenoCommon McLeod syndrome
BGMUT_749 protEffect R222G
BGMUT_75 alias Ovar, tlse52
BGMUT_75 commonName O46
BGMUT_75 phenoCommon O
BGMUT_75 protEffect 88fs + truncation
BGMUT_750 alias XK 11
BGMUT_750 commonName XK 11
BGMUT_750 phenoCommon McLeod syndrome
BGMUT_750 protEffect W314X
BGMUT_751 alias XK 979A
BGMUT_751 commonName XK (Switzerland 2)
BGMUT_751 phenoCommon McLeod
BGMUT_751 protEffect E327K
BGMUT_752 alias XK 39del
BGMUT_752 commonName XK (Brazil)
BGMUT_752 phenoCommon McLeod syndrome
BGMUT_752 protEffect no protein
BGMUT_754 alias Sc 169A
BGMUT_754 commonName Sc -2
BGMUT_754 phenoCommon Sc: -1, 2
BGMUT_754 protEffect G57R
BGMUT_755 commonName Sc null 1
BGMUT_755 phenoCommon Sc: -1, -2
BGMUT_755 protEffect none; H26Y; 113fs
BGMUT_756 alias Rd 178G
BGMUT_756 commonName Sc4
BGMUT_756 phenoCommon Rd +
BGMUT_756 protEffect P60A
BGMUT_757 alias Star; Sc 139A
BGMUT_757 commonName Sc -5
BGMUT_757 phenoCommon Sc: 1, -2, 3
BGMUT_757 protEffect E47K
BGMUT_759 alias MER 383ins
BGMUT_759 commonName MER2 1
BGMUT_759 phenoCommon Mer2 negative with renal failure
BGMUT_759 protEffect K127fs + 140X
BGMUT_76 alias Ovar, tlse20
BGMUT_76 commonName O47
BGMUT_76 phenoCommon O
BGMUT_76 protEffect 88fs + truncation
BGMUT_760 alias MER2 533A
BGMUT_760 commonName MER2 2
BGMUT_760 phenoCommon Mer2 negative and healthy
BGMUT_760 protEffect R178H
BGMUT_762 alias O01bantu
BGMUT_762 commonName O54
BGMUT_762 phenoCommon O (associated with bantu phenotype)
BGMUT_762 protEffect 88fs + truncation
BGMUT_764 commonName A bantu 01
BGMUT_764 phenoCommon A bantu
BGMUT_764 protEffect exon 4 del; P156L; 354fs + 21 aa
BGMUT_765 alias FUT1 293T
BGMUT_765 commonName China
BGMUT_765 phenoCommon para-Bombay
BGMUT_765 protEffect T98M
BGMUT_766 commonName A304
BGMUT_766 phenoCommon A3
BGMUT_766 protEffect P156L; R180H; 354fs + 21aa
BGMUT_77 alias O2-2
BGMUT_77 commonName O48
BGMUT_77 phenoCommon O
BGMUT_77 protEffect P74S; R176G; R217C; G229D; G268R;
BGMUT_771 commonName A208
BGMUT_771 phenoCommon A2
BGMUT_771 protEffect P156L; R180P
BGMUT_772 commonName FUT1 682G
BGMUT_772 phenoCommon para-Bombay
BGMUT_772 protEffect M228V
BGMUT_773 alias RHD 636T
BGMUT_773 commonName RHD DUC-1
BGMUT_773 phenoCommon DUC-1; CcDee
BGMUT_773 protEffect G212G
BGMUT_774 alias RHD 667D, 697C, 1136T
BGMUT_774 commonName RHD DAU-5
BGMUT_774 phenoCommon DAU-5; ccDee
BGMUT_774 protEffect F223V; E233Q; T379M
BGMUT_775 alias RHD 700T
BGMUT_775 commonName RHD DQC or DYU
BGMUT_775 phenoCommon DQC; ccDee
BGMUT_775 protEffect R234W
BGMUT_776 alias RHD 733C
BGMUT_776 commonName RHD DUC-2
BGMUT_776 phenoCommon DUC-2; ccDEe
BGMUT_776 protEffect V245L
BGMUT_777 alias RH53; RHCE 365T
BGMUT_777 commonName RHCE JAHK; also RHCE ceSL 1
BGMUT_777 phenoCommon JAHK antigen; associated with rG (d(C)(E)) haplotype;RHCE ceSL does not express JAHK, atypical serology
BGMUT_777 protEffect S122L
BGMUT_778 alias Avar
BGMUT_778 commonName Aw10
BGMUT_778 phenoCommon Aw
BGMUT_778 protEffect D262N
BGMUT_779 alias RHD 998A, 1136T
BGMUT_779 commonName RHD DAU-6
BGMUT_779 phenoCommon DAU (similar to DAU-2)
BGMUT_779 protEffect S333N; T379M
BGMUT_78 alias O2-3
BGMUT_78 commonName O49
BGMUT_78 phenoCommon O
BGMUT_78 protEffect P74S; R176G; G229D; G268R;
BGMUT_781 alias RHD 667G, 674T
BGMUT_781 commonName RHD DTO
BGMUT_781 phenoCommon weakD (similar to weak D type4 + RHD pseudo)
BGMUT_781 protEffect F223V; S225F
BGMUT_782 alias RHD 1226T
BGMUT_782 commonName RHD weak D type 42
BGMUT_782 phenoCommon weak D (similar to weak D type 22)
BGMUT_782 protEffect K409M
BGMUT_783 alias 52G; 809G
BGMUT_783 commonName RHD weak D type 1.1
BGMUT_783 phenoCommon very weak D; mistyped as D- or weak D type1
BGMUT_783 protEffect L18V; V270G
BGMUT_784 alias 17T
BGMUT_784 commonName RHD weak D type 31
BGMUT_784 phenoCommon very weak D
BGMUT_784 protEffect P6L
BGMUT_785 alias 1121A
BGMUT_785 commonName RHD weak D type 32
BGMUT_785 phenoCommon very weak D
BGMUT_785 protEffect I134N
BGMUT_786 commonName Ael06
BGMUT_786 phenoCommon A weak
BGMUT_786 protEffect M142T, P156L
BGMUT_79 alias O2-4
BGMUT_79 commonName O50
BGMUT_79 phenoCommon O
BGMUT_79 protEffect P74S; T163M; R176G; G268R;
BGMUT_790 commonName C1GALT1C1 202T, 393A
BGMUT_790 phenoCommon Tn syndrome
BGMUT_790 protEffect R68X
BGMUT_791 commonName C1GALT1C1 454A
BGMUT_791 phenoCommon Tn syndrome
BGMUT_791 protEffect E152K
BGMUT_792 commonName C1GALT1C1 393A
BGMUT_792 phenoCommon Encoded protein retains C1GALT1 chaperone activity leading to the absence of Tn syndrome
BGMUT_792 protEffect D131E
BGMUT_794 commonName B(A)04
BGMUT_794 phenoCommon Aweak B
BGMUT_794 protEffect R176G; M214V; G235S; L266M; G268A;
BGMUT_795 commonName B(A)05
BGMUT_795 phenoCommon Aweak B
BGMUT_795 protEffect R176G; M214T; G235S; L266M; G268A;
BGMUT_797 commonName Ax09
BGMUT_797 phenoCommon Ax
BGMUT_797 protEffect P156L; W181C
BGMUT_798 commonName A4GALT -550insC; -160G; 987A; 1697A
BGMUT_798 phenoCommon P1; P2
BGMUT_798 protEffect none
BGMUT_799 commonName A4GALT 109G; 987A
BGMUT_799 phenoCommon P1 (observed so far)
BGMUT_799 protEffect M37V
BGMUT_8 commonName A106
BGMUT_8 phenoCommon A1
BGMUT_8 protEffect none; P156L
BGMUT_80 alias O4
BGMUT_80 commonName O51
BGMUT_80 phenoCommon O
BGMUT_80 protEffect 29fs
BGMUT_800 commonName A4GALT 109G; 987A; 1697A
BGMUT_800 phenoCommon P1 (observed so far)
BGMUT_800 protEffect M37V
BGMUT_801 commonName FUT2 357T, 716A
BGMUT_801 phenoCommon Secretor
BGMUT_801 protEffect R239Q
BGMUT_802 commonName FUT1 328A
BGMUT_802 phenoCommon para-Bombay
BGMUT_802 protEffect A110T
BGMUT_803 commonName FUT1 586T
BGMUT_803 phenoCommon para-Bombay
BGMUT_803 protEffect 196 Q>X
BGMUT_805 commonName FUT1 35T
BGMUT_805 phenoCommon none
BGMUT_805 protEffect A12V
BGMUT_806 alias Sc 54T, 76T, 103A
BGMUT_806 commonName Sc -7 (SCAN 54T,76T,103A)
BGMUT_806 phenoCommon Sc: 1,-2,3
BGMUT_806 protEffect H26Y; G35S
BGMUT_807 commonName Sc null 2
BGMUT_807 phenoCommon Sc: -1,-2,-3
BGMUT_807 protEffect R332X
BGMUT_808 alias Sc 242A
BGMUT_808 commonName Sc-6 (SCER 242A)
BGMUT_808 phenoCommon SC:1,-2,-3
BGMUT_808 protEffect R81Q
BGMUT_809 commonName SC null 2A
BGMUT_809 phenoCommon Sc: -1,-2,-3
BGMUT_809 protEffect R332X
BGMUT_81 alias O5
BGMUT_81 commonName O52
BGMUT_81 phenoCommon O
BGMUT_81 protEffect Q108X
BGMUT_810 commonName Aw11
BGMUT_810 phenoCommon Aw
BGMUT_810 protEffect V175M; R241W
BGMUT_812 alias FUT2 357T, 685A
BGMUT_812 commonName Se 357,685
BGMUT_812 phenoCommon secretor
BGMUT_812 protEffect V229M
BGMUT_813 alias FUT2 400A
BGMUT_813 commonName Se 400
BGMUT_813 phenoCommon secretor
BGMUT_813 protEffect V134I
BGMUT_815 alias RHce 48C
BGMUT_815 commonName Rhce
BGMUT_815 phenoCommon Rhce e variant
BGMUT_815 protEffect W16C
BGMUT_816 alias O.02.16.1
BGMUT_816 commonName O55
BGMUT_816 protEffect 88fs
BGMUT_817 commonName Bw11
BGMUT_817 phenoCommon Bw
BGMUT_817 protEffect R176G; L232P; G235S; L266M; G268A
BGMUT_818 commonName Ax10
BGMUT_818 phenoCommon Ax
BGMUT_818 protEffect P156L; V277M; R337G
BGMUT_819 alias O1 variant
BGMUT_819 commonName O56
BGMUT_819 phenoCommon O
BGMUT_819 protEffect 88fs+truncation
BGMUT_82 alias O6
BGMUT_82 commonName O53
BGMUT_82 phenoCommon O
BGMUT_82 protEffect W181X
BGMUT_820 alias Avar (S#230); A207 (designated by Yip et al.)
BGMUT_820 commonName A209
BGMUT_820 phenoCommon A2
BGMUT_820 protEffect P156L; R176H; fs + elongation
BGMUT_821 alias Bvar (S#52)
BGMUT_821 commonName B108
BGMUT_821 protEffect R176G; G235S; L266M; G268A; A298S
BGMUT_822 alias Bvar (S#108)
BGMUT_822 commonName B109
BGMUT_822 protEffect R176G; G235S; L266M; G268A
BGMUT_823 alias Bvar (S#133,#216)
BGMUT_823 commonName B110 (same as Bw14)
BGMUT_823 phenoCommon Bw
BGMUT_823 protEffect V175M; R176G; G235S; L266M; G268A
BGMUT_824 alias Bvar (S#192)
BGMUT_824 commonName B111
BGMUT_824 protEffect R178G; G235S; L266M; G268A
BGMUT_825 commonName Aw12
BGMUT_825 phenoCommon Aw
BGMUT_825 protEffect P156L; M186V
BGMUT_826 commonName Bw12
BGMUT_826 phenoCommon Bw
BGMUT_826 protEffect P93L; R176G; G235S; L266M; G268A
BGMUT_827 alias O.01.11.1
BGMUT_827 commonName O57
BGMUT_827 phenoCommon O
BGMUT_827 protEffect 88fs
BGMUT_828 commonName Aw13
BGMUT_828 phenoCommon Aw
BGMUT_828 protEffect initiator Met codon is disrupted; amino terminally truncated protein
BGMUT_829 alias a common haplotype in 5'region
BGMUT_829 commonName A4GALT -773G, -770T, -638C, 550insC, -212G, -164C, -160G
BGMUT_829 phenoCommon P1, P2
BGMUT_829 protEffect none
BGMUT_83 commonName A301
BGMUT_83 phenoCommon A3
BGMUT_83 protEffect D291N
BGMUT_832 alias RHD DFV
BGMUT_832 commonName RHD 223V
BGMUT_832 phenoCommon weak D type 4
BGMUT_832 protEffect F223V
BGMUT_833 alias RHD 410T,455C, 602G, 667G, 819A
BGMUT_833 commonName RHD III type 6
BGMUT_833 phenoCommon DIII type 6
BGMUT_833 protEffect A137A; N152T; T201R; F223V; A273A
BGMUT_835 alias RHD 602G, 667G, 697C, 957A,1025C
BGMUT_835 commonName RHD DARE
BGMUT_835 phenoCommon related to weak D type 4
BGMUT_835 protEffect T201R; F223V; E233Q; V319V; I342T
BGMUT_836 alias RHCE 48C, 105T, 365T
BGMUT_836 commonName RHCE ceSL 2
BGMUT_836 phenoCommon ceSL;atypical serology: D antigen expression not associated with D-specific amino acids
BGMUT_836 protEffect W16C, S122L
BGMUT_837 alias hybrid A102 X O02
BGMUT_837 commonName Ael07
BGMUT_837 phenoCommon Ael
BGMUT_837 protEffect P156L; V277M
BGMUT_838 alias O217 (designated by authors)
BGMUT_838 commonName O58
BGMUT_838 phenoCommon O
BGMUT_838 protEffect 88fs + truncation
BGMUT_839 alias O103.1 (designated by authors)
BGMUT_839 commonName O59
BGMUT_839 phenoCommon O
BGMUT_839 protEffect 88fs + truncation
BGMUT_84 commonName A302
BGMUT_84 phenoCommon A3
BGMUT_84 protEffect V277M; 354fs
BGMUT_840 commonName B305
BGMUT_840 phenoCommon B3
BGMUT_840 protEffect M142T, R176G; G235S; L266M; G268A
BGMUT_841 alias GYPC-9
BGMUT_841 commonName GEIS
BGMUT_841 phenoCommon GEIS
BGMUT_841 protEffect T32N
BGMUT_842 alias B (var)
BGMUT_842 commonName B306
BGMUT_842 phenoCommon A1B3 in A101/Bvar or A102/Bvar heterozygotes or B in Bvar/O01 heterozygotes
BGMUT_842 protEffect R176G; D183N; G235S; L266M; G268A
BGMUT_845 alias DO 378T; 624C; 793G; 898G
BGMUT_845 commonName DOB WL
BGMUT_845 phenoCommon DOb
BGMUT_845 protEffect N265D; L300V
BGMUT_847 commonName Fut1 661T
BGMUT_847 phenoCommon Para-Bombay
BGMUT_847 protEffect R221C
BGMUT_848 alias RHcE 48C, 538C
BGMUT_848 commonName RHce ceRA
BGMUT_848 phenoCommon very weak RH5 antigen
BGMUT_848 protEffect W16C; G180R
BGMUT_85 commonName A303
BGMUT_85 phenoCommon A3
BGMUT_85 protEffect L280F
BGMUT_851 alias 1868A; KALT
BGMUT_851 commonName KEL29
BGMUT_851 phenoCommon KALT
BGMUT_851 protEffect R623K
BGMUT_852 alias KEL 913A; KTIM
BGMUT_852 commonName KEL30
BGMUT_852 phenoCommon KTIM
BGMUT_852 protEffect D305N
BGMUT_853 alias RHD 611C
BGMUT_853 commonName RHD weak D type 19
BGMUT_853 phenoCommon normal D
BGMUT_853 protEffect I204T
BGMUT_854 alias RHD 1250C
BGMUT_854 commonName RHD weak D type 20
BGMUT_854 phenoCommon normal D
BGMUT_854 protEffect F417S
BGMUT_855 alias RHce 48C, 697G, 733G; Crawford; RH43
BGMUT_855 commonName RHce ceCF
BGMUT_855 phenoCommon ceCF; Crawford antigen (RH43) and VS (RH20) are expressed
BGMUT_855 protEffect W16C; Q233E; L245V
BGMUT_859 commonName cis-AB05
BGMUT_859 phenoCommon cisAB
BGMUT_859 protEffect R176G; G235S; L266M
BGMUT_86 commonName Ax01
BGMUT_86 phenoCommon Ax
BGMUT_86 protEffect F216I
BGMUT_860 alias RHD 3A
BGMUT_860 commonName RHD Del (Cde)7
BGMUT_860 phenoCommon Del
BGMUT_860 protEffect loss initiation codon
BGMUT_861 alias RHD 28T
BGMUT_861 commonName RHD Del (Cde)8
BGMUT_861 phenoCommon Del
BGMUT_861 protEffect R10W
BGMUT_862 alias RHD 53C
BGMUT_862 commonName RHD Del(Cde)9
BGMUT_862 phenoCommon Del
BGMUT_862 protEffect L18P
BGMUT_863 alias RHD 251C
BGMUT_863 commonName RHD Del(Cde)10
BGMUT_863 phenoCommon Del
BGMUT_863 protEffect L84P
BGMUT_864 commonName IGnT C 243A
BGMUT_864 phenoCommon adult i in Taiwanese; no congenital cataract
BGMUT_864 protEffect N81K
BGMUT_865 commonName FUT1 538T; 1089G
BGMUT_865 phenoCommon para-Bombay
BGMUT_865 protEffect Q180X; A363A
BGMUT_866 commonName FUT1 689C
BGMUT_866 phenoCommon para-Bombay
BGMUT_866 protEffect Q230P
BGMUT_867 alias KEL 1899G
BGMUT_867 commonName KEL7 - 1
BGMUT_867 phenoCommon Jsb
BGMUT_867 protEffect L633L
BGMUT_868 alias RHD DVL-1
BGMUT_868 commonName RHD 684-686del
BGMUT_868 phenoCommon partial D
BGMUT_868 protEffect R229del
BGMUT_869 alias RHD DVL-2
BGMUT_869 commonName RHD 705-707del
BGMUT_869 phenoCommon partial D
BGMUT_869 protEffect K235del
BGMUT_87 commonName Ax02
BGMUT_87 phenoCommon Ax
BGMUT_87 protEffect F216I; V277M
BGMUT_870 alias RHce ceBP
BGMUT_870 commonName RHce 685-687del
BGMUT_870 phenoCommon altered e and f antigen expression
BGMUT_870 protEffect R229del
BGMUT_871 commonName FUT1 917T
BGMUT_871 phenoCommon most likely para-Bombay
BGMUT_871 protEffect T306I
BGMUT_872 commonName FUT1 35T, 269T
BGMUT_872 phenoCommon para-Bombay
BGMUT_872 protEffect A12V; G90V
BGMUT_873 commonName FUT2 278T; 357T
BGMUT_873 phenoCommon para-Bombay
BGMUT_873 protEffect A93V; N119N
BGMUT_874 commonName FUT1 422A
BGMUT_874 phenoCommon Bombay
BGMUT_874 protEffect W141X
BGMUT_875 commonName Bel05
BGMUT_875 phenoCommon Bel
BGMUT_875 protEffect R176G; G235S; L266M; G268A; V318M
BGMUT_876 commonName B(A)06
BGMUT_876 phenoCommon B(A) classified as AwB
BGMUT_876 protEffect R176G;G235S;L266M
BGMUT_879 commonName SEMA7A 620A
BGMUT_879 phenoCommon variant JMH (variant C)
BGMUT_879 protEffect R207Q
BGMUT_88 commonName Ax03
BGMUT_88 phenoCommon Ax
BGMUT_88 protEffect F216I; V277M
BGMUT_880 commonName SEMA7A 1379A
BGMUT_880 phenoCommon variant JMH (variant U)
BGMUT_880 protEffect R460H
BGMUT_881 commonName SEMA7A 1381T
BGMUT_881 phenoCommon variant JMH (variantP)
BGMUT_881 protEffect R461C
BGMUT_883 commonName SEMA7A 619T, 1545G
BGMUT_883 phenoCommon variant JMH (variant J)
BGMUT_883 protEffect R207W; Q515Q
BGMUT_884 commonName CR1 4619G
BGMUT_884 protEffect N1540S
BGMUT_885 commonName SEMA7A 507T
BGMUT_885 phenoCommon JMH-negative
BGMUT_885 protEffect Y169Y
BGMUT_886 commonName SEMA7A 1059T
BGMUT_886 phenoCommon JMH-negative
BGMUT_886 protEffect G353G
BGMUT_887 commonName SEMA7A 1239T
BGMUT_887 phenoCommon JMH-negative
BGMUT_887 protEffect V413V
BGMUT_888 alias RHD 594T;602G
BGMUT_888 commonName RHD weak D type 51
BGMUT_888 phenoCommon weak D
BGMUT_888 protEffect K198N; T201R
BGMUT_889 alias RHD 92C
BGMUT_889 commonName RHD weak D type 52
BGMUT_889 phenoCommon weakD
BGMUT_889 protEffect F31S
BGMUT_89 commonName Ax04
BGMUT_89 phenoCommon Ax
BGMUT_89 protEffect F216I
BGMUT_890 alias RHD 740G
BGMUT_890 commonName RHD weak D type 53
BGMUT_890 phenoCommon weak D
BGMUT_890 protEffect V247G
BGMUT_891 alias RHD 667G;676C;697C;712A;733C;744T;787A;800T (D1-4 CE5 D6-10)
BGMUT_891 commonName RHD V type 2
BGMUT_891 phenoCommon weakD
BGMUT_891 protEffect F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M
BGMUT_892 alias RHD 667G;676C;697C;712A;733C;744T;
BGMUT_892 commonName RHD V type 8
BGMUT_892 phenoCommon weak D
BGMUT_892 protEffect F223V; A226P; E233Q; V238M; V245L; S248S
BGMUT_894 commonName LU 361T
BGMUT_894 phenoCommon Lua-b-
BGMUT_894 protEffect R121X
BGMUT_895 commonName LU 691T
BGMUT_895 phenoCommon Lu a-b-
BGMUT_895 protEffect R231X
BGMUT_896 commonName RHD 325delA
BGMUT_896 phenoCommon D neg.
BGMUT_896 protEffect T108fs + 118X
BGMUT_898 commonName RHce 48C;733G
BGMUT_898 protEffect W16C; L245V
BGMUT_899 alias KEL intron8 1T
BGMUT_899 commonName Ko (Germany 1)
BGMUT_899 phenoCommon Kell null
BGMUT_899 protEffect protein altered
BGMUT_9 alias A201 exonic
BGMUT_9 commonName A201
BGMUT_9 phenoCommon A2
BGMUT_9 protEffect P156L; 354fs + 21aa
BGMUT_900 alias KEL intron8 1A
BGMUT_900 commonName Ko (Austria 1)
BGMUT_900 phenoCommon Kell null or 1;-2
BGMUT_900 protEffect protein altered
BGMUT_901 alias KEL 948A
BGMUT_901 commonName Ko (Germany 2)
BGMUT_901 phenoCommon Kell null
BGMUT_901 protEffect W316X
BGMUT_902 alias KEL 1216T
BGMUT_902 commonName Ko (Austria 2)
BGMUT_902 phenoCommon Kell 1;-2
BGMUT_902 protEffect R406X
BGMUT_903 alias KEL 1477T
BGMUT_903 commonName Ko (Germany 3)
BGMUT_903 phenoCommon Kell null
BGMUT_903 protEffect Q493X
BGMUT_904 alias KEL 1546T
BGMUT_904 commonName Ko (Germany 4)
BGMUT_904 phenoCommon Kell null
BGMUT_904 protEffect R516X
BGMUT_905 alias KEL 1678G
BGMUT_905 commonName Ko (Austria 3)
BGMUT_905 phenoCommon Kell 1;-2
BGMUT_905 protEffect P560A
BGMUT_906 alias KEL 2023T
BGMUT_906 commonName Ko (Austria 4)
BGMUT_906 phenoCommon Kell 1;-2
BGMUT_906 protEffect R675X
BGMUT_907 alias KEL 986C
BGMUT_907 commonName Ko (US 1)
BGMUT_907 phenoCommon Kell 1;2mod
BGMUT_907 protEffect L329P
BGMUT_908 alias KEL 306A,1298T
BGMUT_908 commonName Ko (Austria 5)
BGMUT_908 phenoCommon Kell 1;2el
BGMUT_908 protEffect D102E; P433L
BGMUT_909 alias KEL 1763G
BGMUT_909 commonName Ko (Austria 6)
BGMUT_909 phenoCommon Kell 1;2el
BGMUT_909 protEffect Y588C
BGMUT_910 alias KEL 841T
BGMUT_910 commonName Ko (Austria 7)
BGMUT_910 phenoCommon Kell 1;2 weak
BGMUT_910 protEffect R281W
BGMUT_911 commonName Aw14
BGMUT_911 phenoCommon Aweak
BGMUT_911 protEffect P156L; H233Q
BGMUT_912 commonName Bw18
BGMUT_912 phenoCommon Bw
BGMUT_912 protEffect R176G; G235S; L266M; G268T
BGMUT_913 commonName Bw15
BGMUT_913 phenoCommon Bw
BGMUT_913 protEffect R176G; M189V; G235S; L266M; G268A
BGMUT_914 commonName Bw16
BGMUT_914 phenoCommon Bw
BGMUT_914 protEffect R176G; I192T; G235S; L266M; G268A
BGMUT_915 commonName Bw17
BGMUT_915 phenoCommon Bw
BGMUT_915 protEffect R176G; G235S; D262N; L266M; G268A
BGMUT_916 commonName Bw19
BGMUT_916 phenoCommon Bw
BGMUT_916 protEffect R176G; F216I; G235S; L266M; G268A
BGMUT_917 commonName Bw14 ( same as B110)
BGMUT_917 phenoCommon Bw
BGMUT_917 protEffect V175M; R176G; G235S; L266M; G268A
BGMUT_919 alias RHD 494G
BGMUT_919 commonName RHD weak D 494G
BGMUT_919 phenoCommon putative weak or partial D
BGMUT_919 protEffect Y165C
BGMUT_92 commonName Ax07
BGMUT_92 phenoCommon Ax
BGMUT_92 protEffect W332X
BGMUT_920 alias RHD 1148C
BGMUT_920 commonName RHD weak D 1148C
BGMUT_920 phenoCommon putative weak or partial D
BGMUT_920 protEffect L383P
BGMUT_922 alias RHD 1219-1224del
BGMUT_922 commonName RHD weak D 1219-1224del
BGMUT_922 phenoCommon putative weak or partial D
BGMUT_922 protEffect F407-W408del
BGMUT_924 alias RHD 640T
BGMUT_924 commonName RHD weak D 640T
BGMUT_924 phenoCommon probably weak D
BGMUT_924 protEffect L214F
BGMUT_925 alias RHD 677A
BGMUT_925 commonName RHD weak D 677A
BGMUT_925 phenoCommon putative weak or partial D
BGMUT_925 protEffect A266D
BGMUT_926 alias RHD 1006C
BGMUT_926 commonName RHD weak D 1006C
BGMUT_926 phenoCommon putative weak or partial D
BGMUT_926 protEffect G366R
BGMUT_927 alias RHD 65A
BGMUT_927 commonName RHD weak D 65A
BGMUT_927 phenoCommon putative weak or partial D
BGMUT_927 protEffect A22E
BGMUT_928 alias RHD 284G
BGMUT_928 commonName RHD weak D 284G
BGMUT_928 phenoCommon putative weak or partial D
BGMUT_928 protEffect D95G
BGMUT_929 alias RHD 330GTdel
BGMUT_929 commonName RHD weak D 330GTdel
BGMUT_929 phenoCommon D null
BGMUT_929 protEffect fs
BGMUT_93 commonName Ax08
BGMUT_93 phenoCommon Ax
BGMUT_93 protEffect F216I; V277M
BGMUT_930 alias RHD 667G,697C,1136T,1177C
BGMUT_930 commonName RHD weak D 667G,697C,1136T,1177C
BGMUT_930 phenoCommon partial D
BGMUT_930 protEffect F223V, E233Q, T379M, W393R
BGMUT_932 commonName A305
BGMUT_932 phenoCommon A3
BGMUT_932 protEffect V274M
BGMUT_933 commonName A306
BGMUT_933 phenoCommon A3
BGMUT_933 protEffect P156L; V274M
BGMUT_934 commonName A307
BGMUT_934 phenoCommon A3
BGMUT_934 protEffect P156L; R249W
BGMUT_935 commonName Ax11
BGMUT_935 phenoCommon Ax
BGMUT_935 protEffect P156L; A287V
BGMUT_936 alias SLC4A1 2191C
BGMUT_936 commonName SLC4A1 -Hemel
BGMUT_936 phenoCommon hemolytic anemia; cation-leaky red cells
BGMUT_936 protEffect S731P
BGMUT_937 alias SLC4A1 166G, 1249T, 2201G
BGMUT_937 commonName SLC4A1 - Hurstpierpoint 2
BGMUT_937 phenoCommon hemolytic anemia; cation-leaky red cells
BGMUT_937 protEffect K56E; L417L; H734R
BGMUT_938 alias SCL4A1 2113T
BGMUT_938 commonName SLC4A1 - Horam
BGMUT_938 phenoCommon hemolytic anemia; cation-leaky red cells
BGMUT_938 protEffect D705Y
BGMUT_939 alias SLC4A1 2201G
BGMUT_939 commonName SLC4A1 - Hurstpierpoint 1
BGMUT_939 phenoCommon hemolytic anemia; cation-leaky red cells
BGMUT_939 protEffect H734R
BGMUT_94 commonName Aw01
BGMUT_94 phenoCommon Aw
BGMUT_94 protEffect T136M; P156L; 354fs
BGMUT_940 alias SLC4A1 2060C
BGMUT_940 commonName SLC4A1 - Blackburn
BGMUT_940 phenoCommon hemolytic anemia; cation-leaky red cells
BGMUT_940 protEffect L687P
BGMUT_941 commonName O60 (designated by authors O4 or O41)
BGMUT_941 phenoCommon O
BGMUT_941 protEffect 29fs; 55x
BGMUT_942 commonName DO 185C,378T,624C,793G
BGMUT_942 phenoCommon Do(a-b-), Hy-, Gy(a-)
BGMUT_942 protEffect F62S; Y126Y; L208L; N265D
BGMUT_943 alias DAF 466A
BGMUT_943 commonName DAF CROM (CROM14)
BGMUT_943 phenoCommon CROV-
BGMUT_943 protEffect E156K
BGMUT_944 alias DAF 740G
BGMUT_944 commonName DAF CRAM (CROM15)
BGMUT_944 phenoCommon CRAM-
BGMUT_944 protEffect Q247R
BGMUT_945 commonName FUT2 210G, 357T
BGMUT_945 phenoCommon secretor
BGMUT_945 protEffect T70T; N119N
BGMUT_946 commonName FUT2 357T, 380A, 385T
BGMUT_946 phenoCommon weak secretor (deduced)
BGMUT_946 protEffect N119N; R127H; I129F
BGMUT_947 commonName FUT2 853A
BGMUT_947 phenoCommon weaker secretor (deduced reduced enzyme activity)
BGMUT_947 protEffect A285T
BGMUT_948 commonName FUT2 357T, 855C
BGMUT_948 phenoCommon secretor
BGMUT_948 protEffect N119N; A285A
BGMUT_949 commonName FUT2 171G;216T;428A;572A;739A;960G;1009G;1011C
BGMUT_949 phenoCommon non-secretor
BGMUT_949 protEffect A57A; Y72Y; W143X; R191Q; G247S; T320T;
BGMUT_95 commonName Aw02
BGMUT_95 phenoCommon Aw
BGMUT_95 protEffect G117A; P156L; 354fs
BGMUT_950 commonName FUT2 357T, 748insGTG
BGMUT_950 phenoCommon not known
BGMUT_950 protEffect 249-250insV
BGMUT_951 alias CD44 488A
BGMUT_951 commonName IN 4
BGMUT_951 phenoCommon IN:-4
BGMUT_951 protEffect T163K
BGMUT_953 alias RHD 505C, 509G, 514T, 560A, 577A; 594T, 602G (RHD1-3 CE4 D5-10)
BGMUT_953 commonName RHD DFR-2
BGMUT_953 phenoCommon DFR
BGMUT_953 protEffect M169L;M170R;I172F;S182T;E193K;K198N;T201R
BGMUT_959 alias RHD DCS-1
BGMUT_959 commonName RHD 667G; 676C
BGMUT_959 phenoCommon ccDEe
BGMUT_959 protEffect F223V; A226P
BGMUT_96 commonName Aw03
BGMUT_96 phenoCommon Aw
BGMUT_96 protEffect R68T; P156L; 354fs
BGMUT_960 alias RHD DCS-2
BGMUT_960 commonName RHD 676C
BGMUT_960 phenoCommon ccDEe
BGMUT_960 protEffect A226P
BGMUT_961 commonName Bw20
BGMUT_961 phenoCommon O; no or very weak anti-B in serum
BGMUT_961 protEffect R176G; G235S; L266M; G268A; 272fs +38 aa
BGMUT_962 commonName A210
BGMUT_962 phenoCommon A2
BGMUT_962 protEffect W90R;P156L
BGMUT_963 commonName A211
BGMUT_963 phenoCommon A2
BGMUT_963 protEffect P89L;P156L
BGMUT_964 commonName B307
BGMUT_964 phenoCommon B3
BGMUT_964 protEffect A137V; R176G; G235S; L266M; G268A
BGMUT_97 commonName Aw04
BGMUT_97 phenoCommon Aw
BGMUT_97 protEffect R241W
BGMUT_98 commonName Aw05
BGMUT_98 phenoCommon Aw
BGMUT_98 protEffect E322G
BGMUT_99 commonName Aw06
BGMUT_99 phenoCommon Aw
BGMUT_99 protEffect R168G
BGMUT_101 longName AF134412.1(ABO):c.[220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 98+127_98+128insA; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+1095delC; 155+1096delA; 203+375C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+91T>C; 239+103_239+104insCCC; 239+266G>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G]
BGMUT_27 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 155+1357C>T; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_33 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_41 longName AF134412.1(ABO):c.[155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_63 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 538C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_64 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 498C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_65 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 351G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
TP53_g.17910_17939del commonName del30
TP53_g.13806G>C commonName G>C
TP53_g.13806G>C protEffect p.Ala276Pro
TP53_g.12637_12639del commonName del3
TP53_g.13409G>T commonName G>T
TP53_g.13409G>T protEffect p.Glu258STOP
BGMUT_68 longName AF134412.1(ABO):c.[220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_69 longName AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_71 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_762 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1170C>T; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC; 239+496G>A; 373+160delT; 373+163T>C; 373+188G>A; 373+235C>G; 373+268T>G; 373+446A>G; 373+786A>G; 373+788G>A; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A]
BGMUT_764 longName AF134412.1(ABO):c.[467C>T; 1061delC; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC]
TP53_g.12381C>G commonName C>G
TP53_g.12381C>G protEffect p.Asn131Lys
TP53_g.13860del commonName del1
TP53_g.13839G>A commonName G>A
TP53_g.13839G>A protEffect p.Glu287Lys
TP53_g.13833G>C commonName G>C
TP53_g.13833G>C protEffect p.Glu285Gln
TP53_g.13841G>A commonName G>A
TP53_g.13841G>A protEffect p.Glu287Glu
TP53_g.13410A>G commonName A>G
TP53_g.13410A>G protEffect p.Glu258Gly
TP53_g.13380_13381delinsAA commonName GG>AA
TP53_g.13380_13381delinsAA protEffect p.Arg248Gln
TP53_g.12701C>T commonName C>T
TP53_g.12701C>T protEffect p.Thr211Ile
TP53_g.12496A>T commonName A>T
TP53_g.12496A>T protEffect p.Thr170Ser
TP53_g.12439C>G commonName C>G
TP53_g.12439C>G protEffect p.Pro151Ala
TP53_g.12679G>T commonName G>T
TP53_g.12679G>T protEffect p.Glu204STOP
TP53_g.13819G>T commonName G>T
TP53_g.13819G>T protEffect p.Arg280Ile
TP53_g.12449G>A commonName G>A
TP53_g.12449G>A protEffect p.Gly154Asp
TP53_g.13368G>T commonName G>T
TP53_g.13368G>T protEffect p.Gly244Val
TP53_g.13383G>A commonName G>A
TP53_g.13383G>A protEffect p.Arg249Lys
TP53_g.13837A>G commonName A>G
TP53_g.13837A>G protEffect p.Glu286Gly
TP53_g.12661G>T commonName G>T
TP53_g.12661G>T protEffect p.Glu198STOP
TP53_g.13794G>C commonName G>C
TP53_g.13794G>C protEffect p.Val272Leu
TP53_g.13809T>G commonName T>G
TP53_g.13809T>G protEffect p.Cys277Gly
TP53_g.13351T>A commonName T>A
TP53_g.13351T>A protEffect p.Cys238STOP
TP53_g.13886G>T commonName G>T
TP53_g.13886G>T protEffect p.Gly302Gly
TP53_g.13805_13806ins30 commonName ins30
TP53_g.12468G>T commonName G>T
TP53_g.12468G>T protEffect p.Met160Ile
TP53_g.12363G>T commonName G>T
TP53_g.13762G>T commonName G>T
TP53_g.12400G>C commonName G>C
TP53_g.12400G>C protEffect p.Ala138Pro
TP53_g.12678G>T commonName G>T
TP53_g.12678G>T protEffect p.Val203Val
TP53_g.12415G>T commonName G>T
TP53_g.12415G>T protEffect p.Val143Leu
TP53_g.11569_11570delinsGT commonName TC>GT
TP53_g.11569_11570delinsGT protEffect p.Phe113Cys
TP53_g.11568_11569delinsGG commonName TT>GG
TP53_g.11568_11569delinsGG protEffect p.Phe113Gly
TP53_g.12364_12384del commonName del21
TP53_g.12364_12384del protEffect Y126_K132del
TP53_g.12368C>T commonName C>T
TP53_g.12368C>T protEffect p.Ser127Phe
TP53_g.12506T>C commonName T>C
TP53_g.12506T>C protEffect p.Val173Ala
TP53_g.12521A>C commonName A>C
TP53_g.12521A>C protEffect p.His178Pro
TP53_g.12523C>G commonName C>G
TP53_g.12523C>G protEffect p.His179Asp
TP53_g.13351_13352del commonName del2
TP53_g.13362G>A commonName G>A
TP53_g.13362G>A protEffect p.Cys242Tyr
TP53_g.13401T>C commonName T>C
TP53_g.13401T>C protEffect p.Ile255Thr
TP53_g.13776G>A commonName G>A
TP53_g.13776G>A protEffect p.Gly266Arg
TP53_g.13813C>G commonName C>G
TP53_g.13813C>G protEffect p.Pro278Arg
TP53_g.13346_13347del commonName del2
TP53_g.12520C>G commonName C>G
TP53_g.12520C>G protEffect p.His178Asp
TP53_g.12393C>T commonName C>T
TP53_g.12393C>T protEffect p.Cys135Cys
TP53_g.12441C>T commonName C>T
TP53_g.12441C>T protEffect p.Pro151Pro
TP53_g.12440C>T commonName C>T
TP53_g.12440C>T protEffect p.Pro151Leu
TP53_g.13375G>T commonName G>T
TP53_g.13375G>T protEffect p.Met246Ile
TP53_g.12627A>C commonName A>C
TP53_g.12724_12735del commonName del12
TP53_g.13402_13405del commonName del4
TP53_g.12517C>T commonName C>T
TP53_g.12517C>T protEffect p.Pro177Ser
TP53_g.12393C>G commonName C>G
TP53_g.12393C>G protEffect p.Cys135Trp
TP53_g.13880_13881ins2 commonName ins2
TP53_g.13388A>C commonName A>C
TP53_g.13388A>C protEffect p.Ile251Leu
TP53_g.13398T>C commonName T>C
TP53_g.13398T>C protEffect p.Ile254Thr
TP53_g.13323G>C commonName G>C
TP53_g.13323G>C protEffect p.Cys229Ser
TP53_g.12443C>A commonName C>A
TP53_g.12443C>A protEffect p.Pro152Gln
TP53_g.13412G>T commonName G>T
TP53_g.13412G>T protEffect p.Asp259Tyr
TP53_g.13404C>T commonName C>T
TP53_g.13404C>T protEffect p.Thr256Ile
TP53_g.12512G>C commonName G>C
TP53_g.12512G>C protEffect p.Arg175Pro
TP53_g.12497C>T commonName C>T
TP53_g.12497C>T protEffect p.Thr170Met
TP53_g.13355A>G commonName A>G
TP53_g.13355A>G protEffect p.Ser240Gly
TP53_g.12556C>T commonName C>T
TP53_g.11327G>C commonName G>C
TP53_g.13420G>T commonName G>T
TP53_g.12706C>A commonName C>A
TP53_g.12706C>A protEffect p.Arg213Arg
TP53_g.13395C>T commonName C>T
TP53_g.13395C>T protEffect p.Thr253Ile
TP53_g.13823C>A commonName C>A
TP53_g.13823C>A protEffect p.Asp281Glu
TP53_g.13788T>C commonName T>C
TP53_g.13788T>C protEffect p.Phe270Leu
TP53_g.16915del commonName del1
TP53_g.12478A>G commonName A>G
TP53_g.12478A>G protEffect p.Lys164Glu
TP53_g.13350G>C commonName G>C
TP53_g.13350G>C protEffect p.Cys238Ser
TP53_g.13320A>G commonName A>G
TP53_g.13320A>G protEffect p.Asp228Gly
TP53_g.13341A>G commonName A>G
TP53_g.13341A>G protEffect p.Asn235Ser
TP53_g.13309G>T commonName G>T
TP53_g.12658G>A commonName G>A
TP53_g.12658G>A protEffect p.Val197Met
TP53_g.12656G>C commonName G>C
TP53_g.12656G>C protEffect p.Arg196Pro
TP53_g.11213G>A commonName G>A
TP53_g.11213G>A protEffect p.Val31Ile
TP53_g.12460del commonName del1
TP53_g.13991G>A commonName G>A
TP53_g.11559del commonName del1
TP53_g.11504G>A commonName G>A
TP53_g.11504G>A protEffect p.Trp91STOP
TP53_g.12487C>T commonName C>T
TP53_g.12487C>T protEffect p.Gln167STOP
TP53_g.12448_12461del commonName del14
TP53_g.12651_12652ins1 commonName ins1
TP53_g.12665G>A commonName G>A
TP53_g.12665G>A protEffect p.Gly199Glu
TP53_g.13801T>G commonName T>G
TP53_g.13801T>G protEffect p.Val274Gly
TP53_g.12519_12520ins1 commonName ins1
TP53_g.12415G>A commonName G>A
TP53_g.12415G>A protEffect p.Val143Met
TP53_g.13795T>A commonName T>A
TP53_g.13795T>A protEffect p.Val272Glu
TP53_g.13774_13775delinsCT commonName TG>CT
TP53_g.13774_13775delinsCT protEffect p.Leu265Pro
TP53_g.16936del commonName del1
TP53_g.13380_13381delinsTT commonName GG>TT
TP53_g.13380_13381delinsTT protEffect p.Arg248Leu
TP53_g.12626T>G commonName T>G
TP53_g.13315_13316ins37 commonName ins37
TP53_g.13407T>A commonName T>A
TP53_g.13407T>A protEffect p.Leu257Gln
TP53_g.13892_13893ins4 commonName ins4
TP53_g.12741G>A commonName G>A
TP53_g.12741G>A protEffect p.Glu224Glu
TP53_g.13777G>A commonName G>A
TP53_g.13777G>A protEffect p.Gly266Glu
TP53_g.13816G>A commonName G>A
TP53_g.13816G>A protEffect p.Gly279Glu
TP53_g.12721_12722del commonName del2
TP53_g.12406del commonName del1
TP53_g.12394C>G commonName C>G
TP53_g.12394C>G protEffect p.Gln136Glu
TP53_g.12544G>T commonName G>T
TP53_g.12544G>T protEffect p.Asp186Tyr
TP53_g.12670del commonName del1
TP53_g.12478A>C commonName A>C
TP53_g.12478A>C protEffect p.Lys164Gln
TP53_g.12692A>T commonName A>T
TP53_g.12692A>T protEffect p.Asp208Val
TP53_g.13400_13402del commonName del3
TP53_g.12547G>T commonName G>T
TP53_g.12547G>T protEffect p.Gly187Cys
TP53_g.13385C>G commonName C>G
TP53_g.13385C>G protEffect p.Pro250Ala
TP53_g.13899G>A commonName G>A
TP53_g.13899G>A protEffect p.Ala307Thr
TP53_g.13818A>G commonName A>G
TP53_g.13818A>G protEffect p.Arg280Gly
TP53_g.13780G>A commonName G>A
TP53_g.13780G>A protEffect p.Arg267Gln
TP53_g.13773del commonName del1
TP53_g.13794G>T commonName G>T
TP53_g.13794G>T protEffect p.Val272Leu
TP53_g.13358_13360del commonName del3
TP53_g.13776G>T commonName G>T
TP53_g.13776G>T protEffect p.Gly266STOP
TP53_g.12530G>C commonName G>C
TP53_g.12530G>C protEffect p.Arg181Pro
TP53_g.13800G>C commonName G>C
TP53_g.13800G>C protEffect p.Val274Leu
TP53_g.13805_13806ins4 commonName ins4
TP53_g.12409T>G commonName T>G
TP53_g.12409T>G protEffect p.Cys141Gly
TP53_g.13368G>A commonName G>A
TP53_g.13368G>A protEffect p.Gly244Asp
TP53_g.13322_13323del commonName del2
TP53_g.13388del commonName del1
TP53_g.12398T>C commonName T>C
TP53_g.12398T>C protEffect p.Leu137Pro
TP53_g.13855A>G commonName A>G
TP53_g.13855A>G protEffect p.Lys292Arg
TP53_g.13399C>A commonName C>A
TP53_g.13399C>A protEffect p.Ile254Ile
TP53_g.13805T>C commonName T>C
TP53_g.13805T>C protEffect p.Cys275Cys
TP53_g.12638C>T commonName C>T
TP53_g.12638C>T protEffect p.Pro190Leu
TP53_g.12439C>A commonName C>A
TP53_g.12439C>A protEffect p.Pro151Thr
TP53_g.13812_13813delinsTT commonName CC>TT
TP53_g.13812_13813delinsTT protEffect p.Pro278Phe
TP53_g.13331A>T commonName A>T
TP53_g.13331A>T protEffect p.Ile232Phe
TP53_g.12438_12439ins1 commonName ins1
TP53_g.12525T>C commonName T>C
TP53_g.12525T>C protEffect p.His179His
TP53_g.12458T>A commonName T>A
TP53_g.12458T>A protEffect p.Val157Asp
TP53_g.12664_12677del commonName del14
TP53_g.12508A>T commonName A>T
TP53_g.12508A>T protEffect p.Arg174Trp
TP53_g.13345C>G commonName C>G
TP53_g.13345C>G protEffect p.Tyr236STOP
TP53_g.13411A>T commonName A>T
TP53_g.13411A>T protEffect p.Glu258Asp
TP53_g.12694_12700del commonName del7
TP53_g.12427G>A commonName G>A
TP53_g.12427G>A protEffect p.Val147Ile
TP53_g.12391T>C commonName T>C
TP53_g.12391T>C protEffect p.Cys135Arg
TP53_g.13774T>C commonName T>C
TP53_g.13774T>C protEffect p.Leu265Pro
TP53_g.12498_12499delinsTT commonName GG>TT
TP53_g.12498_12499delinsTT protEffect E171X
TP53_g.12447C>T commonName C>T
TP53_g.12447C>T protEffect p.Pro153Pro
TP53_g.12363G>C commonName G>C
TP53_g.13417C>T commonName C>T
TP53_g.13417C>T protEffect p.Ser260Ser
TP53_g.12394C>T commonName C>T
TP53_g.12394C>T protEffect p.Gln136STOP
TP53_g.12494T>A commonName T>A
TP53_g.12494T>A protEffect p.Met169Lys
TP53_g.12496A>G commonName A>G
TP53_g.12496A>G protEffect p.Thr170Ala
TP53_g.13792A>G commonName A>G
TP53_g.13792A>G protEffect p.Glu271Gly
TP53_g.12406A>G commonName A>G
TP53_g.12406A>G protEffect p.Thr140Ala
TP53_g.12412C>T commonName C>T
TP53_g.12412C>T protEffect p.Pro142Ser
TP53_g.13827C>G commonName C>G
TP53_g.13827C>G protEffect p.Arg283Gly
TP53_g.12533G>A commonName G>A
TP53_g.12533G>A protEffect p.Cys182Tyr
TP53_g.13825G>A commonName G>A
TP53_g.13825G>A protEffect p.Arg282Gln
TP53_g.13829del commonName del1
TP53_g.13395C>G commonName C>G
TP53_g.13395C>G protEffect p.Thr253Ser
TP53_g.12463G>C commonName G>C
TP53_g.12463G>C protEffect p.Ala159Pro
TP53_g.13381G>T commonName G>T
TP53_g.13381G>T protEffect p.Arg248Arg
TP53_g.12472A>T commonName A>T
TP53_g.12472A>T protEffect p.Ile162Phe
TP53_g.13383G>C commonName G>C
TP53_g.13383G>C protEffect p.Arg249Thr
TP53_g.13379C>G commonName C>G
TP53_g.13379C>G protEffect p.Arg248Gly
TP53_g.13401T>G commonName T>G
TP53_g.13401T>G protEffect p.Ile255Ser
TP53_g.13815_13838del commonName del24
TP53_g.12482A>T commonName A>T
TP53_g.12482A>T protEffect p.Gln165Leu
TP53_g.13896C>T commonName C>T
TP53_g.13896C>T protEffect p.Arg306STOP
TP53_g.13899_13914del commonName del16
TP53_g.12683A>C commonName A>C
TP53_g.12683A>C protEffect p.Tyr205Ser
TP53_g.12676del commonName del1
TP53_g.13373A>T commonName A>T
TP53_g.13373A>T protEffect p.Met246Leu
TP53_g.12448del commonName del1
TP53_g.12363G>A commonName G>A
TP53_g.13791del commonName del1
TP53_g.12473T>G commonName T>G
TP53_g.12473T>G protEffect p.Ile162Ser
TP53_g.12520del commonName del1
TP53_g.13403del commonName del1
TP53_g.12385A>C commonName A>C
TP53_g.12385A>C protEffect p.Met133Leu
TP53_g.12690T>G commonName T>G
TP53_g.12690T>G protEffect p.Asp207Glu
TP53_g.11036G>C commonName G>C
TP53_g.11036G>C protEffect p.Glu11Gln
TP53_g.13871C>T commonName C>T
TP53_g.13871C>T protEffect p.His297His
TP53_g.13821G>A commonName G>A
TP53_g.13821G>A protEffect p.Asp281Asn
TP53_g.13370G>C commonName G>C
TP53_g.13370G>C protEffect p.Gly245Arg
TP53_g.13356G>T commonName G>T
TP53_g.13356G>T protEffect p.Ser240Ile
TP53_g.13823_13824ins1 commonName ins1
TP53_g.13347del commonName del1
TP53_g.13813C>A commonName C>A
TP53_g.13813C>A protEffect p.Pro278His
TP53_g.12530G>T commonName G>T
TP53_g.12530G>T protEffect p.Arg181Leu
TP53_g.13409G>C commonName G>C
TP53_g.13409G>C protEffect p.Glu258Gln
TP53_g.14020C>T commonName C>T
TP53_g.14020C>T protEffect p.Pro316Pro
TP53_g.13355del commonName del1
TP53_g.12380A>G commonName A>G
TP53_g.12380A>G protEffect p.Asn131Ser
TP53_g.13386C>T commonName C>T
TP53_g.13386C>T protEffect p.Pro250Leu
TP53_g.12398T>A commonName T>A
TP53_g.12398T>A protEffect p.Leu137Gln
TP53_g.12454_12458del commonName del5
TP53_g.13801T>C commonName T>C
TP53_g.13801T>C protEffect p.Val274Ala
TP53_g.13385del commonName del1
TP53_g.12513_12514ins1 commonName ins1
TP53_g.13374T>G commonName T>G
TP53_g.13374T>G protEffect p.Met246Arg
TP53_g.12457_12463del commonName del7
TP53_g.13346_13363del commonName del18
TP53_g.13358T>G commonName T>G
TP53_g.13358T>G protEffect p.Ser241Ala
TP53_g.13382A>T commonName A>T
TP53_g.13382A>T protEffect p.Arg249Trp
TP53_g.12409del commonName del1
TP53_g.12377T>G commonName T>G
TP53_g.12377T>G protEffect p.Leu130Arg
TP53_g.12724del commonName del1
TP53_g.13788T>G commonName T>G
TP53_g.13788T>G protEffect p.Phe270Val
TP53_g.11499_11556del commonName del58
TP53_g.13422C>G commonName C>G
TP53_g.12393C>A commonName C>A
TP53_g.12393C>A protEffect p.Cys135STOP
TP53_g.12713G>A commonName G>A
TP53_g.12713G>A protEffect p.Ser215Asn
TP53_g.16900C>T commonName C>T
TP53_g.16900C>T protEffect p.Arg337Cys
TP53_g.13361T>A commonName T>A
TP53_g.13361T>A protEffect p.Cys242Ser
TP53_g.11336G>C commonName G>C
TP53_g.11336G>C protEffect p.Leu35Phe
TP53_g.13400A>T commonName A>T
TP53_g.13400A>T protEffect p.Ile255Phe
TP53_g.12502G>T commonName G>T
TP53_g.12502G>T protEffect p.Val172Phe
TP53_g.12466A>G commonName A>G
TP53_g.12466A>G protEffect p.Met160Val
TP53_g.13346A>C commonName A>C
TP53_g.13346A>C protEffect p.Met237Leu
TP53_g.12428T>C commonName T>C
TP53_g.12428T>C protEffect p.Val147Ala
TP53_g.13324del commonName del1
TP53_g.11596_11597del commonName del2
TP53_g.13391_13396del commonName del6
TP53_g.12457_12465del commonName del9
TP53_g.12464C>A commonName C>A
TP53_g.12464C>A protEffect p.Ala159Asp
TP53_g.13399C>G commonName C>G
TP53_g.13399C>G protEffect p.Ile254Met
TP53_g.12370_12396del commonName del27
TP53_g.13824_13829del commonName del6
TP53_g.12677T>C commonName T>C
TP53_g.12677T>C protEffect p.Val203Ala
TP53_g.11415G>T commonName G>T
TP53_g.11415G>T protEffect p.Glu62STOP
TP53_g.12724C>T commonName C>T
TP53_g.12724C>T protEffect p.Pro219Ser
TP53_g.11442del commonName del1
TP53_g.13358del commonName del1
TP53_g.12472A>G commonName A>G
TP53_g.12472A>G protEffect p.Ile162Val
TP53_g.14014_14015ins1 commonName ins1
TP53_g.13398T>G commonName T>G
TP53_g.13398T>G protEffect p.Ile254Ser
TP53_g.13848C>T commonName C>T
TP53_g.13848C>T protEffect p.Arg290Cys
TP53_g.12417G>T commonName G>T
TP53_g.12417G>T protEffect p.Val143Val
TP53_g.12425G>A commonName G>A
TP53_g.12425G>A protEffect p.Trp146STOP
TP53_g.13360C>A commonName C>A
TP53_g.13360C>A protEffect p.Ser241Ser
TP53_g.12699_12700ins1 commonName ins1
TP53_g.12650T>C commonName T>C
TP53_g.12650T>C protEffect p.Leu194Pro
TP53_g.13343T>A commonName T>A
TP53_g.13343T>A protEffect p.Tyr236Asn
TP53_g.13779C>T commonName C>T
TP53_g.13779C>T protEffect p.Arg267Trp
TP53_g.12477C>G commonName C>G
TP53_g.12477C>G protEffect p.Tyr163STOP
TP53_g.12532T>A commonName T>A
TP53_g.12532T>A protEffect p.Cys182Ser
TP53_g.13803T>G commonName T>G
TP53_g.13803T>G protEffect p.Cys275Gly
TP53_g.12460_12463del commonName del4
TP53_g.11565del commonName del1
TP53_g.13316_13319del commonName del4
TP53_g.12648T>A commonName T>A
TP53_g.12648T>A protEffect p.His193Gln
TP53_g.11367del commonName del1
TP53_g.13359C>A commonName C>A
TP53_g.13359C>A protEffect p.Ser241Tyr
TP53_g.12730G>T commonName G>T
TP53_g.12730G>T protEffect p.Glu221STOP
TP53_g.14017_14018ins1 commonName ins1
TP53_g.30020_30115del commonName del96
TP53_g.12677T>A commonName T>A
TP53_g.12677T>A protEffect p.Val203Glu
TP53_g.13844_13845ins2 commonName ins2
TP53_g.12430_12439del commonName del10
TP53_g.13800_13831del commonName del32
TP53_g.13337_13341del commonName del5
TP53_g.13806_13811del commonName del6
TP53_g.13854_13855del commonName del2
TP53_g.12739_12742del commonName del4
TP53_g.12460_12465del commonName del6
TP53_g.12410G>T commonName G>T
TP53_g.12410G>T protEffect p.Cys141Phe
TP53_g.12532del commonName del1
TP53_g.13764_13777del commonName del14
TP53_g.16957G>T commonName G>T
TP53_g.16957G>T protEffect p.Gly356Trp
TP53_g.13420G>A commonName G>A
TP53_g.13839_13843del commonName del5
TP53_g.13836G>T commonName G>T
TP53_g.13836G>T protEffect p.Glu286STOP
TP53_g.13859G>A commonName G>A
TP53_g.13859G>A protEffect p.Gly293Gly
TP53_g.12427del commonName del1
TP53_g.12481C>T commonName C>T
TP53_g.12481C>T protEffect p.Gln165STOP
TP53_g.13850del commonName del1
TP53_g.12389T>C commonName T>C
TP53_g.12389T>C protEffect p.Phe134Ser
TP53_g.12428T>G commonName T>G
TP53_g.12428T>G protEffect p.Val147Gly
TP53_g.12517del commonName del1
TP53_g.13876T>C commonName T>C
TP53_g.13876T>C protEffect p.Leu299Pro
TP53_g.11545G>T commonName G>T
TP53_g.11545G>T protEffect p.Gly105Val
TP53_g.12707G>T commonName G>T
TP53_g.12707G>T protEffect p.Arg213Leu
TP53_g.13417_13418ins3 commonName ins3
TP53_g.11336G>T commonName G>T
TP53_g.11336G>T protEffect p.Leu35Phe
TP53_g.13865T>C commonName T>C
TP53_g.13865T>C protEffect p.Pro295Pro
TP53_g.12628G>A commonName G>A
TP53_g.12694del commonName del1
TP53_g.13408_13409delinsAA commonName GG>AA
TP53_g.13408_13409delinsAA protEffect E258K
TP53_g.11529C>T commonName C>T
TP53_g.11529C>T protEffect p.Gln100STOP
TP53_g.12518C>T commonName C>T
TP53_g.12518C>T protEffect p.Pro177Leu
TP53_g.12520C>A commonName C>A
TP53_g.12520C>A protEffect p.His178Asn
TP53_g.11370_11371del commonName del2
TP53_g.16914_16915delinsTT commonName CC>TT
TP53_g.16914_16915delinsTT protEffect R342X
TP53_g.13823_13824delinsTT commonName CC>TT
TP53_g.13823_13824delinsTT protEffect R282W
TP53_g.12515del commonName del1
TP53_g.13387C>T commonName C>T
TP53_g.13387C>T protEffect p.Pro250Pro
TP53_g.13834A>T commonName A>T
TP53_g.13834A>T protEffect p.Glu285Val
TP53_g.12649_12652del commonName del4
TP53_g.13789T>C commonName T>C
TP53_g.13789T>C protEffect p.Phe270Ser
TP53_g.12510G>C commonName G>C
TP53_g.12510G>C protEffect p.Arg174Ser
TP53_g.11556_11561del commonName del6
TP53_g.12430_12453del commonName del24
TP53_g.13879C>G commonName C>G
TP53_g.13879C>G protEffect p.Pro300Arg
TP53_g.12515G>C commonName G>C
TP53_g.12515G>C protEffect p.Cys176Ser
TP53_g.16906G>T commonName G>T
TP53_g.16906G>T protEffect p.Glu339STOP
TP53_g.13842A>T commonName A>T
TP53_g.13842A>T protEffect p.Asn288Tyr
TP53_g.12501G>C commonName G>C
TP53_g.12501G>C protEffect p.Glu171Asp
TP53_g.12659T>A commonName T>A
TP53_g.12659T>A protEffect p.Val197Glu
TP53_g.13354C>A commonName C>A
TP53_g.13354C>A protEffect p.Asn239Lys
TP53_g.13797C>A commonName C>A
TP53_g.13797C>A protEffect p.Arg273Ser
TP53_g.13343T>G commonName T>G
TP53_g.13343T>G protEffect p.Tyr236Asp
TP53_g.13336_13337ins1 commonName ins1
TP53_g.12433del commonName del1
TP53_g.12646C>G commonName C>G
TP53_g.12646C>G protEffect p.His193Asp
TP53_g.12517_12534del commonName del18
TP53_g.12490C>G commonName C>G
TP53_g.12490C>G protEffect p.His168Asp
TP53_g.12672G>C commonName G>C
TP53_g.12672G>C protEffect p.Leu201Phe
TP53_g.12435C>T commonName C>T
TP53_g.12435C>T protEffect p.Ser149Ser
TP53_g.13382del commonName del1
TP53_g.12508del commonName del1
TP53_g.13800_13807del commonName del8
TP53_g.12675_12676ins1 commonName ins1
TP53_g.13336C>T commonName C>T
TP53_g.13336C>T protEffect p.His233His
TP53_g.13343T>C commonName T>C
TP53_g.13343T>C protEffect p.Tyr236His
TP53_g.13346A>G commonName A>G
TP53_g.13346A>G protEffect p.Met237Val
TP53_g.13846T>A commonName T>A
TP53_g.13846T>A protEffect p.Leu289His
TP53_g.16885_16991del commonName del107
TP53_g.12505_12507del commonName del3
TP53_g.12716T>G commonName T>G
TP53_g.12716T>G protEffect p.Val216Gly
TP53_g.13863C>T commonName C>T
TP53_g.13863C>T protEffect p.Pro295Ser
TP53_g.13928G>A commonName G>A
TP53_g.13783A>G commonName A>G
TP53_g.13783A>G protEffect p.Asn268Ser
TP53_g.13885G>A commonName G>A
TP53_g.13885G>A protEffect p.Gly302Glu
TP53_g.13828G>A commonName G>A
TP53_g.13828G>A protEffect p.Arg283His
TP53_g.13412G>A commonName G>A
TP53_g.13412G>A protEffect p.Asp259Asn
TP53_g.13364A>T commonName A>T
TP53_g.13364A>T protEffect p.Met243Leu
TP53_g.13349T>G commonName T>G
TP53_g.13349T>G protEffect p.Cys238Gly
TP53_g.13405A>G commonName A>G
TP53_g.13405A>G protEffect p.Thr256Thr
TP53_g.13760T>C commonName T>C
TP53_g.13885G>T commonName G>T
TP53_g.13885G>T protEffect p.Gly302Val
TP53_g.13882C>T commonName C>T
TP53_g.13882C>T protEffect p.Pro301Leu
TP53_g.12662A>G commonName A>G
TP53_g.12662A>G protEffect p.Glu198Gly
TP53_g.12541del commonName del1
TP53_g.13763T>C commonName T>C
TP53_g.13763T>C protEffect p.Ser261Ser
TP53_g.13778A>G commonName A>G
TP53_g.13778A>G protEffect p.Gly266Gly
TP53_g.12505_12506delinsTG commonName GT>TG
TP53_g.12505_12506delinsTG protEffect p.Val173Trp
TP53_g.12514del commonName del1
TP53_g.12504T>A commonName T>A
TP53_g.12504T>A protEffect p.Val172Val
TP53_g.12392G>T commonName G>T
TP53_g.12392G>T protEffect p.Cys135Phe
TP53_g.13849G>A commonName G>A
TP53_g.13849G>A protEffect p.Arg290His
TP53_g.13764del commonName del1
TP53_g.13857G>T commonName G>T
TP53_g.13857G>T protEffect p.Gly293Trp
TP53_g.12278T>C commonName T>C
TP53_g.13898_13899ins1 commonName ins1
TP53_g.12393_12394ins1 commonName ins1
TP53_g.12391T>A commonName T>A
TP53_g.12391T>A protEffect p.Cys135Ser
TP53_g.12442_12443delinsTT commonName CC>TT
TP53_g.12442_12443delinsTT protEffect p.Pro152Leu
TP53_g.12522_12523delinsTT commonName CC>TT
TP53_g.12522_12523delinsTT protEffect H179Y
TP53_g.12393_12394delinsTT commonName CC>TT
TP53_g.12393_12394delinsTT protEffect Q136X
TP53_g.13377A>C commonName A>C
TP53_g.13377A>C protEffect p.Asn247Thr
TP53_g.12464_12465delinsTT commonName CC>TT
TP53_g.12464_12465delinsTT protEffect p.Ala159Val
TP53_g.11568T>G commonName T>G
TP53_g.11568T>G protEffect p.Phe113Val
TP53_g.13368G>C commonName G>C
TP53_g.13368G>C protEffect p.Gly244Ala
TP53_g.13770_13787del commonName del18
TP53_g.13380G>C commonName G>C
TP53_g.13380G>C protEffect p.Arg248Pro
TP53_g.12709_12710del commonName del2
TP53_g.13353A>C commonName A>C
TP53_g.13353A>C protEffect p.Asn239Thr
TP53_g.13367_13374del commonName del8
TP53_g.12508_12524del commonName del17
TP53_g.12385del commonName del1
TP53_g.13791G>T commonName G>T
TP53_g.13791G>T protEffect p.Glu271STOP
TP53_g.13770del commonName del1
TP53_g.13402_13403ins1 commonName ins1
TP53_g.12718_12720del commonName del3
TP53_g.16905_16906ins5 commonName ins5
TP53_g.12649_12653del commonName del5
TP53_g.12396A>G commonName A>G
TP53_g.12396A>G protEffect p.Gln136Gln
TP53_g.12478A>T commonName A>T
TP53_g.12478A>T protEffect p.Lys164STOP
TP53_g.12425G>C commonName G>C
TP53_g.12425G>C protEffect p.Trp146Ser
TP53_g.11504G>T commonName G>T
TP53_g.11504G>T protEffect p.Trp91Cys
TP53_g.12485C>G commonName C>G
TP53_g.12485C>G protEffect p.Ser166STOP
TP53_g.12680A>T commonName A>T
TP53_g.12680A>T protEffect p.Glu204Val
TP53_g.13878del commonName del1
TP53_g.12649_12661del commonName del13
TP53_g.12451_12460del commonName del10
TP53_g.13360_13361ins1 commonName ins1
TP53_g.12684_12685ins1 commonName ins1
TP53_g.12383A>T commonName A>T
TP53_g.12383A>T protEffect p.Lys132Met
TP53_g.12698A>G commonName A>G
TP53_g.12698A>G protEffect p.Asn210Ser
TP53_g.12719T>C commonName T>C
TP53_g.12719T>C protEffect p.Val217Ala
TP53_g.13838A>C commonName A>C
TP53_g.13838A>C protEffect p.Glu286Asp
TP53_g.12636C>T commonName C>T
TP53_g.12636C>T protEffect p.Ala189Ala
TP53_g.30002_30011del commonName del10
TP53_g.13761A>T commonName A>T
TP53_g.12627A>T commonName A>T
TP53_g.12712_12727del commonName del16
TP53_g.12463del commonName del1
TP53_g.12653T>G commonName T>G
TP53_g.12653T>G protEffect p.Ile195Ser
TP53_g.12414_12415ins5 commonName ins5
TP53_g.12647A>T commonName A>T
TP53_g.12647A>T protEffect p.His193Leu
TP53_g.12481_12484del commonName del4
TP53_g.12489_12490ins8 commonName ins8
TP53_g.13850C>T commonName C>T
TP53_g.13850C>T protEffect p.Arg290Arg
TP53_g.12633_12634ins1 commonName ins1
TP53_g.12499G>A commonName G>A
TP53_g.12499G>A protEffect p.Glu171Lys
TP53_g.13323G>A commonName G>A
TP53_g.13323G>A protEffect p.Cys229Tyr
TP53_g.12711T>G commonName T>G
TP53_g.12711T>G protEffect p.His214Gln
TP53_g.13818A>T commonName A>T
TP53_g.13818A>T protEffect p.Arg280STOP
TP53_g.13828G>T commonName G>T
TP53_g.13828G>T protEffect p.Arg283Leu
TP53_g.13386_13387delinsAG commonName CC>AG
TP53_g.13386_13387delinsAG protEffect p.Pro250Gln
TP53_g.13389del commonName del1
TP53_g.12508_12533del commonName del26
TP53_g.13763_13899del commonName del137
TP53_g.12432T>A commonName T>A
TP53_g.12432T>A protEffect p.Asp148Glu
TP53_g.13385_13386delinsAA commonName CC>AA
TP53_g.13385_13386delinsAA protEffect p.Pro250Asn
TP53_g.12547G>A commonName G>A
TP53_g.12547G>A protEffect p.Gly187Ser
TP53_g.13822A>C commonName A>C
TP53_g.13822A>C protEffect p.Asp281Ala
TP53_g.13881del commonName del1
TP53_g.12454C>T commonName C>T
TP53_g.12454C>T protEffect p.Arg156Cys
TP53_g.11463_11475del commonName del13
TP53_g.11370_11373del commonName del4
TP53_g.11560G>C commonName G>C
TP53_g.11560G>C protEffect p.Arg110Pro
TP53_g.13370_13382del commonName del13
TP53_g.11553_11557del commonName del5
TP53_g.13387_13388ins4 commonName ins4
TP53_g.13857_13871del commonName del15
TP53_g.11472del commonName del1
TP53_g.13796G>C commonName G>C
TP53_g.13796G>C protEffect p.Val272Val
TP53_g.12640C>A commonName C>A
TP53_g.12640C>A protEffect p.Pro191Thr
TP53_g.12394C>A commonName C>A
TP53_g.12394C>A protEffect p.Gln136Lys
TP53_g.13370_13371delinsCA commonName GG>CA
TP53_g.13370_13371delinsCA protEffect p.Gly245His
TP53_g.13807C>A commonName C>A
TP53_g.13807C>A protEffect p.Ala276Asp
TP53_g.12400del commonName del1
TP53_g.12503T>C commonName T>C
TP53_g.12503T>C protEffect p.Val172Ala
TP53_g.12485C>T commonName C>T
TP53_g.12485C>T protEffect p.Ser166Leu
TP53_g.11424A>T commonName A>T
TP53_g.11424A>T protEffect p.Arg65STOP
TP53_g.13767A>C commonName A>C
TP53_g.13767A>C protEffect p.Asn263His
TP53_g.13363C>T commonName C>T
TP53_g.13363C>T protEffect p.Cys242Cys
TP53_g.11605C>T commonName C>T
TP53_g.11605C>T protEffect p.Thr125Met
TP53_g.12491A>T commonName A>T
TP53_g.12491A>T protEffect p.His168Leu
TP53_g.11541_11561del commonName del21
TP53_g.11359T>C commonName T>C
TP53_g.11359T>C protEffect p.Leu43Ser
TP53_g.14054del commonName del1
TP53_g.13818_13819ins1 commonName ins1
TP53_g.12498_12499del commonName del2
TP53_g.12692del commonName del1
TP53_g.13359del commonName del1
TP53_g.13357_13358ins2 commonName ins2
TP53_g.11389G>A commonName G>A
TP53_g.11389G>A protEffect p.Trp53STOP
TP53_g.13323_13324del commonName del2
TP53_g.13764_13765delinsCA commonName GG>CA
TP53_g.13764_13765delinsCA protEffect p.Gly262His
TP53_g.13852A>G commonName A>G
TP53_g.13852A>G protEffect p.Lys291Arg
TP53_g.12407C>T commonName C>T
TP53_g.12407C>T protEffect p.Thr140Ile
TP53_g.13894A>G commonName A>G
TP53_g.13894A>G protEffect p.Lys305Arg
TP53_g.12454C>A commonName C>A
TP53_g.12454C>A protEffect p.Arg156Ser
TP53_g.12519C>T commonName C>T
TP53_g.12519C>T protEffect p.Pro177Pro
TP53_g.13861A>G commonName A>G
TP53_g.13861A>G protEffect p.Glu294Gly
TP53_g.13898A>T commonName A>T
TP53_g.13898A>T protEffect p.Arg306Arg
TP53_g.13412G>C commonName G>C
TP53_g.13412G>C protEffect p.Asp259His
TP53_g.13839del commonName del1
TP53_g.12474C>G commonName C>G
TP53_g.12474C>G protEffect p.Ile162Met
TP53_g.13402_13403ins28 commonName ins28
TP53_g.12695G>A commonName G>A
TP53_g.12695G>A protEffect p.Arg209Lys
TP53_g.12695G>C commonName G>C
TP53_g.12695G>C protEffect p.Arg209Thr
TP53_g.12491A>C commonName A>C
TP53_g.12491A>C protEffect p.His168Pro
TP53_g.12441_12442ins1 commonName ins1
TP53_g.12509del commonName del1
TP53_g.13404C>A commonName C>A
TP53_g.13404C>A protEffect p.Thr256Lys
TP53_g.12516_12517ins1 commonName ins1
TP53_g.12580T>G commonName T>G
TP53_g.12617G>A commonName G>A
TP53_g.13849G>T commonName G>T
TP53_g.13849G>T protEffect p.Arg290Leu
TP53_g.13392T>C commonName T>C
TP53_g.13392T>C protEffect p.Leu252Pro
TP53_g.13807C>T commonName C>T
TP53_g.13807C>T protEffect p.Ala276Val
TP53_g.16938A>C commonName A>C
TP53_g.16938A>C protEffect p.Glu349Asp
TP53_g.13310G>C commonName G>C
TP53_g.13310G>C protEffect p.Val225Leu
TP53_g.13789T>A commonName T>A
TP53_g.13789T>A protEffect p.Phe270Tyr
TP53_g.12508_12516del commonName del9
TP53_g.12740A>G commonName A>G
TP53_g.12740A>G protEffect p.Glu224Gly
TP53_g.13374T>A commonName T>A
TP53_g.13374T>A protEffect p.Met246Lys
TP53_g.12641C>A commonName C>A
TP53_g.12641C>A protEffect p.Pro191His
TP53_g.12363_12364ins3 commonName ins3
TP53_g.12411_12412ins1 commonName ins1
TP53_g.13355A>C commonName A>C
TP53_g.13355A>C protEffect p.Ser240Arg
TP53_g.13869C>T commonName C>T
TP53_g.13869C>T protEffect p.His297Tyr
TP53_g.13782A>C commonName A>C
TP53_g.13782A>C protEffect p.Asn268His
TP53_g.12702_12703ins1 commonName ins1
TP53_g.13829C>T commonName C>T
TP53_g.13829C>T protEffect p.Arg283Arg
TP53_g.13328A>G commonName A>G
TP53_g.13328A>G protEffect p.Thr231Ala
TP53_g.12732G>A commonName G>A
TP53_g.12732G>A protEffect p.Glu221Glu
TP53_g.12422T>C commonName T>C
TP53_g.12422T>C protEffect p.Leu145Pro
TP53_g.13790T>C commonName T>C
TP53_g.13790T>C protEffect p.Phe270Phe
TP53_g.12640C>T commonName C>T
TP53_g.12640C>T protEffect p.Pro191Ser
TP53_g.13310G>A commonName G>A
TP53_g.13310G>A protEffect p.Val225Ile
TP53_g.13418A>C commonName A>C
TP53_g.13418A>C protEffect p.Ser261Arg
TP53_g.12508_12517del commonName del10
TP53_g.12514T>G commonName T>G
TP53_g.12514T>G protEffect p.Cys176Gly
TP53_g.12652del commonName del1
TP53_g.13792A>T commonName A>T
TP53_g.13792A>T protEffect p.Glu271Val
TP53_g.14027A>T commonName A>T
TP53_g.14027A>T protEffect p.Lys319STOP
TP53_g.12518C>A commonName C>A
TP53_g.12518C>A protEffect p.Pro177His
TP53_g.13793G>C commonName G>C
TP53_g.13793G>C protEffect p.Glu271Asp
TP53_g.13856A>T commonName A>T
TP53_g.13856A>T protEffect p.Lys292Asn
TP53_g.13878C>T commonName C>T
TP53_g.13878C>T protEffect p.Pro300Ser
TP53_g.13386_13387delinsTG commonName CC>TG
TP53_g.13386_13387delinsTG protEffect p.Pro250Leu
TP53_g.12518_12519delinsTT commonName CC>TT
TP53_g.12518_12519delinsTT protEffect p.Pro177Leu
TP53_g.12674G>C commonName G>C
TP53_g.12674G>C protEffect p.Arg202Pro
TP53_g.12447_12448ins1 commonName ins1
TP53_g.13302T>A commonName T>A
TP53_g.13418A>T commonName A>T
TP53_g.13418A>T protEffect p.Ser261Cys
TP53_g.13888G>C commonName G>C
TP53_g.13888G>C protEffect p.Ser303Thr
TP53_g.13939del commonName del1
TP53_g.13815G>A commonName G>A
TP53_g.13815G>A protEffect p.Gly279Arg
TP53_g.12503T>G commonName T>G
TP53_g.12503T>G protEffect p.Val172Gly
TP53_g.14061T>A commonName T>A
TP53_g.14061T>A protEffect p.Leu330His
TP53_g.12436_12447del commonName del12
TP53_g.12742G>T commonName G>T
TP53_g.13328A>T commonName A>T
TP53_g.13328A>T protEffect p.Thr231Ser
TP53_g.13348G>C commonName G>C
TP53_g.13348G>C protEffect p.Met237Ile
TP53_g.13366G>C commonName G>C
TP53_g.13366G>C protEffect p.Met243Ile
TP53_g.13881C>G commonName C>G
TP53_g.13881C>G protEffect p.Pro301Ala
TP53_g.12463G>T commonName G>T
TP53_g.12463G>T protEffect p.Ala159Ser
TP53_g.14032G>C commonName G>C
TP53_g.14032G>C protEffect p.Lys320Asn
TP53_g.12479A>T commonName A>T
TP53_g.12479A>T protEffect p.Lys164Met
TP53_g.12656G>A commonName G>A
TP53_g.12656G>A protEffect p.Arg196Gln
TP53_g.12693C>A commonName C>A
TP53_g.12693C>A protEffect p.Asp208Glu
TP53_g.12693C>G commonName C>G
TP53_g.12693C>G protEffect p.Asp208Glu
TP53_g.13388_13390del commonName del3
TP53_g.12399G>A commonName G>A
TP53_g.12399G>A protEffect p.Leu137Leu
TP53_g.13830_13831del commonName del2
TP53_g.12687_12688ins4 commonName ins4
TP53_g.12677del commonName del1
TP53_g.12488A>G commonName A>G
TP53_g.12488A>G protEffect p.Gln167Arg
TP53_g.12439_12440del commonName del2
TP53_g.13866C>T commonName C>T
TP53_g.13866C>T protEffect p.His296Tyr
TP53_g.12664G>A commonName G>A
TP53_g.12664G>A protEffect p.Gly199Arg
TP53_g.13406C>G commonName C>G
TP53_g.13406C>G protEffect p.Leu257Val
TP53_g.13825delinsCCC commonName G>CCC
TP53_g.13815G>T commonName G>T
TP53_g.13815G>T protEffect p.Gly279Trp
TP53_g.13870A>C commonName A>C
TP53_g.13870A>C protEffect p.His297Pro
TP53_g.13341del commonName del1
TP53_g.12721G>A commonName G>A
TP53_g.12721G>A protEffect p.Val218Met
TP53_g.12381_12382ins1 commonName ins1
TP53_g.12640_12642del commonName del3
TP53_g.12515_12516ins2 commonName ins2
TP53_g.12635C>G commonName C>G
TP53_g.12635C>G protEffect p.Ala189Gly
TP53_g.12379A>C commonName A>C
TP53_g.12379A>C protEffect p.Asn131His
TP53_g.13358T>C commonName T>C
TP53_g.13358T>C protEffect p.Ser241Pro
TP53_g.12511_12512del commonName del2
TP53_g.12490C>A commonName C>A
TP53_g.12490C>A protEffect p.His168Asn
TP53_g.12470_12471delinsGA commonName CC>GA
TP53_g.12470_12471delinsGA protEffect p.Ala161Gly
TP53_g.13340A>G commonName A>G
TP53_g.13340A>G protEffect p.Asn235Asp
TP53_g.12516del commonName del1
TP53_g.12411C>T commonName C>T
TP53_g.12411C>T protEffect p.Cys141Cys
TP53_g.16916G>C commonName G>C
TP53_g.16916G>C protEffect p.Arg342Pro
TP53_g.13260_13261ins1 commonName ins1
TP53_g.12525T>A commonName T>A
TP53_g.12525T>A protEffect p.His179Gln
TP53_g.14007C>G commonName C>G
TP53_g.14007C>G protEffect p.Thr312Ser
TP53_g.12694_12708del commonName del15
TP53_g.13880_13881ins1 commonName ins1
TP53_g.12486_12487ins1 commonName ins1
TP53_g.12697del commonName del1
TP53_g.12682T>C commonName T>C
TP53_g.12682T>C protEffect p.Tyr205His
TP53_g.12461G>C commonName G>C
TP53_g.12461G>C protEffect p.Arg158Pro
TP53_g.12641_12650del commonName del10
TP53_g.11380_11419del commonName del40
TP53_g.13401T>A commonName T>A
TP53_g.13401T>A protEffect p.Ile255Asn
TP53_g.11531G>A commonName G>A
TP53_g.11531G>A protEffect p.Gln100Gln
TP53_g.11549C>G commonName C>G
TP53_g.11549C>G protEffect p.Ser106Arg
TP53_g.14044T>G commonName T>G
TP53_g.14044T>G protEffect p.Asp324Glu
TP53_g.13373_13391del commonName del19
TP53_g.16927_16941del commonName del15
TP53_g.12627_12636del commonName del10
TP53_g.30003_30015del commonName del13
TP53_g.13776G>C commonName G>C
TP53_g.13776G>C protEffect p.Gly266Arg
TP53_g.12497_12504del commonName del8
TP53_g.13337T>G commonName T>G
TP53_g.13337T>G protEffect p.Tyr234Asp
TP53_g.12404A>G commonName A>G
TP53_g.12404A>G protEffect p.Lys139Arg
TP53_g.16952A>G commonName A>G
TP53_g.16952A>G protEffect p.Gln354Arg
TP53_g.12442C>G commonName C>G
TP53_g.12442C>G protEffect p.Pro152Ala
TP53_g.30017_30018ins1200 commonName ins1200
TP53_g.13391del commonName del1
TP53_g.11536C>T commonName C>T
TP53_g.11536C>T protEffect p.Thr102Ile
TP53_g.11580G>C commonName G>C
TP53_g.11580G>C protEffect p.Gly117Arg
TP53_g.11433G>C commonName G>C
TP53_g.11433G>C protEffect p.Glu68Gln
TP53_g.11543G>C commonName G>C
TP53_g.11543G>C protEffect p.Gln104His
TP53_g.12512_12513del commonName del2
TP53_g.13358T>A commonName T>A
TP53_g.13358T>A protEffect p.Ser241Thr
TP53_g.13833del commonName del1
TP53_g.13842del commonName del1
TP53_g.13356G>C commonName G>C
TP53_g.13356G>C protEffect p.Ser240Thr
TP53_g.13896del commonName del1
TP53_g.12461_12462delinsTT commonName GC>TT
TP53_g.12461_12462delinsTT protEffect p.Arg158Leu
TP53_g.12504T>G commonName T>G
TP53_g.12504T>G protEffect p.Val172Val
TP53_g.13726_13770del commonName del45
TP53_g.13410A>T commonName A>T
TP53_g.13410A>T protEffect p.Glu258Val
TP53_g.13786G>T commonName G>T
TP53_g.13786G>T protEffect p.Ser269Ile
TP53_g.13369C>T commonName C>T
TP53_g.13369C>T protEffect p.Gly244Gly
TP53_g.12402_12403ins4 commonName ins4
TP53_g.13788_13809del commonName del22
TP53_g.12463G>A commonName G>A
TP53_g.12463G>A protEffect p.Ala159Thr
TP53_g.30015_30022del commonName del8
TP53_g.30014_30015ins6 commonName ins6
TP53_g.30016_30017ins5 commonName ins5
TP53_g.12457G>A commonName G>A
TP53_g.12457G>A protEffect p.Val157Ile
TP53_g.12650T>A commonName T>A
TP53_g.12650T>A protEffect p.Leu194His
TP53_g.12666A>G commonName A>G
TP53_g.12666A>G protEffect p.Gly199Gly
TP53_g.13840A>G commonName A>G
TP53_g.13840A>G protEffect p.Glu287Gly
TP53_g.12474C>T commonName C>T
TP53_g.12474C>T protEffect p.Ile162Ile
TP53_g.14035A>G commonName A>G
TP53_g.14035A>G protEffect p.Lys321Lys
TP53_g.12509G>A commonName G>A
TP53_g.12509G>A protEffect p.Arg174Lys
TP53_g.12657A>G commonName A>G
TP53_g.12657A>G protEffect p.Arg196Arg
TP53_g.12644A>G commonName A>G
TP53_g.12644A>G protEffect p.Gln192Arg
TP53_g.12417G>A commonName G>A
TP53_g.12417G>A protEffect p.Val143Val
TP53_g.12453C>T commonName C>T
TP53_g.12453C>T protEffect p.Thr155Thr
TP53_g.12454del commonName del1
TP53_g.12635C>T commonName C>T
TP53_g.12635C>T protEffect p.Ala189Val
TP53_g.12709C>T commonName C>T
TP53_g.12709C>T protEffect p.His214Tyr
TP53_g.12451del commonName del1
TP53_g.12451_12452del commonName del2
TP53_g.13787C>T commonName C>T
TP53_g.13787C>T protEffect p.Ser269Ser
TP53_g.12371C>T commonName C>T
TP53_g.12371C>T protEffect p.Pro128Leu
TP53_g.12395A>G commonName A>G
TP53_g.12395A>G protEffect p.Gln136Arg
TP53_g.13797_13798delinsAA commonName CG>AA
TP53_g.13797_13798delinsAA protEffect p.Arg273Asn
TP53_g.13893del commonName del1
TP53_g.13812del commonName del1
TP53_g.13361T>G commonName T>G
TP53_g.13361T>G protEffect p.Cys242Gly
TP53_g.12454C>G commonName C>G
TP53_g.12454C>G protEffect p.Arg156Gly
TP53_g.12413C>T commonName C>T
TP53_g.12413C>T protEffect p.Pro142Leu
TP53_g.12376C>T commonName C>T
TP53_g.12376C>T protEffect p.Leu130Phe
TP53_g.13850C>G commonName C>G
TP53_g.13850C>G protEffect p.Arg290Arg
TP53_g.12493A>G commonName A>G
TP53_g.12493A>G protEffect p.Met169Val
TP53_g.12665G>C commonName G>C
TP53_g.12665G>C protEffect p.Gly199Ala
TP53_g.13366G>A commonName G>A
TP53_g.13366G>A protEffect p.Met243Ile
TP53_g.13867A>G commonName A>G
TP53_g.13867A>G protEffect p.His296Arg
TP53_g.13856A>G commonName A>G
TP53_g.13856A>G protEffect p.Lys292Lys
TP53_g.13791G>C commonName G>C
TP53_g.13791G>C protEffect p.Glu271Gln
TP53_g.13416C>T commonName C>T
TP53_g.13416C>T protEffect p.Ser260Phe
TP53_g.12445C>T commonName C>T
TP53_g.12445C>T protEffect p.Pro153Ser
TP53_g.12417del commonName del1
TP53_g.13873A>C commonName A>C
TP53_g.13873A>C protEffect p.Glu298Ala
TP53_g.12451A>C commonName A>C
TP53_g.12451A>C protEffect p.Thr155Pro
TP53_g.16895G>T commonName G>T
TP53_g.16895G>T protEffect p.Arg335Leu
TP53_g.16905C>T commonName C>T
TP53_g.16905C>T protEffect p.Phe338Phe
TP53_g.12481_12495del commonName del15
TP53_g.12456_12457delinsGT commonName CG>GT
TP53_g.12456_12457delinsGT protEffect V157F
TP53_g.12457del commonName del1
TP53_g.13351T>C commonName T>C
TP53_g.13351T>C protEffect p.Cys238Cys
TP53_g.12501G>A commonName G>A
TP53_g.12501G>A protEffect p.Glu171Glu
TP53_g.13351T>G commonName T>G
TP53_g.13351T>G protEffect p.Cys238Trp
TP53_g.13825del commonName del1
TP53_g.12631_12642del commonName del12
TP53_g.12708_12709ins1 commonName ins1
TP53_g.12716T>C commonName T>C
TP53_g.12716T>C protEffect p.Val216Ala
TP53_g.12721G>C commonName G>C
TP53_g.12721G>C protEffect p.Val218Leu
TP53_g.13810G>C commonName G>C
TP53_g.13810G>C protEffect p.Cys277Ser
TP53_g.13864C>T commonName C>T
TP53_g.13864C>T protEffect p.Pro295Leu
TP53_g.12547del commonName del1
TP53_g.13382_13387del commonName del6
TP53_g.12390_12391ins2 commonName ins2
TP53_g.13770_13772del commonName del3
TP53_g.12389T>G commonName T>G
TP53_g.12389T>G protEffect p.Phe134Cys
TP53_g.12444_12445ins9 commonName ins9
TP53_g.13360_13361ins4 commonName ins4
TP53_g.12505del commonName del1
TP53_g.12544del commonName del1
TP53_g.11327_11328ins1 commonName ins1
TP53_g.12485C>A commonName C>A
TP53_g.12485C>A protEffect p.Ser166STOP
TP53_g.12694A>C commonName A>C
TP53_g.12694A>C protEffect p.Arg209Arg
TP53_g.12499del commonName del1
TP53_g.12507_12508ins1 commonName ins1
TP53_g.12460_12461del commonName del2
TP53_g.12400_12402del commonName del3
TP53_g.13807C>G commonName C>G
TP53_g.13807C>G protEffect p.Ala276Gly
TP53_g.12458T>G commonName T>G
TP53_g.12458T>G protEffect p.Val157Gly
TP53_g.11580del commonName del1
TP53_g.12451_12458del commonName del8
TP53_g.13811T>A commonName T>A
TP53_g.13811T>A protEffect p.Cys277STOP
TP53_g.12721_12723del commonName del3
TP53_g.13417_13418ins4 commonName ins4
TP53_g.13393C>T commonName C>T
TP53_g.13393C>T protEffect p.Leu252Leu
TP53_g.13399C>T commonName C>T
TP53_g.13399C>T protEffect p.Ile254Ile
TP53_g.12664del commonName del1
TP53_g.13800del commonName del1
TP53_g.13768A>G commonName A>G
TP53_g.13768A>G protEffect p.Asn263Ser
TP53_g.13800G>A commonName G>A
TP53_g.13800G>A protEffect p.Val274Ile
TP53_g.13843A>G commonName A>G
TP53_g.13843A>G protEffect p.Asn288Ser
TP53_g.11430C>T commonName C>T
TP53_g.11430C>T protEffect p.Pro67Ser
TP53_g.12460_12467del commonName del8
TP53_g.11608T>C commonName T>C
TP53_g.13862G>A commonName G>A
TP53_g.13862G>A protEffect p.Glu294Glu
TP53_g.12522_12523delinsAT commonName CC>AT
TP53_g.12522_12523delinsAT protEffect H178Q;H179S]
TP53_g.12495G>A commonName G>A
TP53_g.12495G>A protEffect p.Met169Ile
TP53_g.14048G>T commonName G>T
TP53_g.14048G>T protEffect p.Glu326STOP
TP53_g.11552C>G commonName C>G
TP53_g.11552C>G protEffect p.Tyr107STOP
TP53_g.11559C>G commonName C>G
TP53_g.11559C>G protEffect p.Arg110Gly
TP53_g.13991G>T commonName G>T
TP53_g.12738_12739ins5 commonName ins5
TP53_g.12499_12544del commonName del46
TP53_g.13857_13858del commonName del2
TP53_g.13815G>C commonName G>C
TP53_g.13815G>C protEffect p.Gly279Arg
TP53_g.12490del commonName del1
TP53_g.11385C>T commonName C>T
TP53_g.11385C>T protEffect p.Gln52STOP
TP53_g.11508C>T commonName C>T
TP53_g.11508C>T protEffect p.Leu93Leu
TP53_g.12673C>T commonName C>T
TP53_g.12673C>T protEffect p.Arg202Cys
TP53_g.13420_13761del commonName del342(del intron7)
TP53_g.12490C>T commonName C>T
TP53_g.12490C>T protEffect p.His168Tyr
TP53_g.13326C>T commonName C>T
TP53_g.13326C>T protEffect p.Thr230Ile
TP53_g.13320A>C commonName A>C
TP53_g.13320A>C protEffect p.Asp228Ala
TP53_g.13341A>T commonName A>T
TP53_g.13341A>T protEffect p.Asn235Ile
TP53_g.13327C>A commonName C>A
TP53_g.13327C>A protEffect p.Thr230Thr
TP53_g.13376A>T commonName A>T
TP53_g.13376A>T protEffect p.Asn247Tyr
TP53_g.13337_13339del commonName del3
TP53_g.11285_11360del commonName del76
TP53_g.12442del commonName del1
TP53_g.12457G>C commonName G>C
TP53_g.12457G>C protEffect p.Val157Leu
TP53_g.13391C>T commonName C>T
TP53_g.13391C>T protEffect p.Leu252Phe
TP53_g.12661G>C commonName G>C
TP53_g.12661G>C protEffect p.Glu198Gln
TP53_g.13381G>C commonName G>C
TP53_g.13381G>C protEffect p.Arg248Arg
TP53_g.13381G>A commonName G>A
TP53_g.13381G>A protEffect p.Arg248Arg
TP53_g.11557T>C commonName T>C
TP53_g.11557T>C protEffect p.Phe109Ser
TP53_g.12714T>G commonName T>G
TP53_g.12714T>G protEffect p.Ser215Arg
TP53_g.13792_13795del commonName del4
TP53_g.12651_12655del commonName del5
TP53_g.13818_13819delinsCC commonName AG>CC
TP53_g.13818_13819delinsCC protEffect p.Arg280Pro
TP53_g.12722T>G commonName T>G
TP53_g.12722T>G protEffect p.Val218Gly
TP53_g.12682T>A commonName T>A
TP53_g.12682T>A protEffect p.Tyr205Asn
TP53_g.13771del commonName del1
TP53_g.11482C>T commonName C>T
TP53_g.11482C>T protEffect p.Ala84Val
TP53_g.14063C>T commonName C>T
TP53_g.14063C>T protEffect p.Gln331STOP
TP53_g.11506C>T commonName C>T
TP53_g.11506C>T protEffect p.Pro92Leu
TP53_g.12669_12670ins1 commonName ins1
TP53_g.12520C>T commonName C>T
TP53_g.12520C>T protEffect p.His178Tyr
TP53_g.12672_12673delinsTT commonName GC>TT
TP53_g.12672_12673delinsTT protEffect L201F;R202C]
TP53_g.12675del commonName del1
TP53_g.11091C>T commonName C>T
TP53_g.12734C>T commonName C>T
TP53_g.12734C>T protEffect p.Pro222Leu
TP53_g.12736del commonName del1
TP53_g.12406A>T commonName A>T
TP53_g.12406A>T protEffect p.Thr140Ser
TP53_g.12725C>T commonName C>T
TP53_g.12725C>T protEffect p.Pro219Leu
TP53_g.11597del commonName del1
TP53_g.12448_12462del commonName del15
TP53_g.12390_12391ins19 commonName ins19
TP53_g.12642_12643ins20 commonName ins20
TP53_g.13899G>T commonName G>T
TP53_g.13899G>T protEffect p.Ala307Ser
TP53_g.12727T>A commonName T>A
TP53_g.12727T>A protEffect p.Tyr220Asn
TP53_g.12561_12562ins1 commonName ins1
TP53_g.13834A>G commonName A>G
TP53_g.13834A>G protEffect p.Glu285Gly
TP53_g.14018C>A commonName C>A
TP53_g.14018C>A protEffect p.Pro316Thr
TP53_g.13911G>A commonName G>A
TP53_g.11457_11508del commonName del52
TP53_g.12373_12378del commonName del6
TP53_g.14073G>A commonName G>A
TP53_g.13790_13791ins2 commonName ins2
TP53_g.11464C>T commonName C>T
TP53_g.11464C>T protEffect p.Ala78Val
TP53_g.12503T>A commonName T>A
TP53_g.12503T>A protEffect p.Val172Asp
TP53_g.12628G>C commonName G>C
TP53_g.13811_13812ins21 commonName ins21
TP53_g.13394A>T commonName A>T
TP53_g.13394A>T protEffect p.Thr253Ser
TP53_g.12693_12694ins1 commonName ins1
TP53_g.13387_13388ins5 commonName ins5
TP53_g.11457_11509del commonName del53
TP53_g.16985A>G commonName A>G
TP53_g.16985A>G protEffect p.His365Arg
TP53_g.12364_12366del commonName del3
TP53_g.16936G>T commonName G>T
TP53_g.16936G>T protEffect p.Glu349STOP
TP53_g.12655C>A commonName C>A
TP53_g.12655C>A protEffect p.Arg196Arg
TP53_g.13806G>T commonName G>T
TP53_g.13806G>T protEffect p.Ala276Ser
TP53_g.12676G>A commonName G>A
TP53_g.12676G>A protEffect p.Val203Met
TP53_g.13318T>G commonName T>G
TP53_g.13318T>G protEffect p.Ser227Ser
TP53_g.12526G>T commonName G>T
TP53_g.12526G>T protEffect p.Glu180STOP
TP53_g.12674G>A commonName G>A
TP53_g.12674G>A protEffect p.Arg202His
TP53_g.13827_13839del commonName del13
TP53_g.12703_12704del commonName del2
TP53_g.11581G>A commonName G>A
TP53_g.11581G>A protEffect p.Gly117Glu
TP53_g.13330C>T commonName C>T
TP53_g.13330C>T protEffect p.Thr231Thr
TP53_g.13378C>T commonName C>T
TP53_g.13378C>T protEffect p.Asn247Asn
TP53_g.12400_12409del commonName del10
TP53_g.12734C>A commonName C>A
TP53_g.12734C>A protEffect p.Pro222Gln
TP53_g.12691G>A commonName G>A
TP53_g.12691G>A protEffect p.Asp208Asn
TP53_g.12388del commonName del1
TP53_g.12695_12696del commonName del2
TP53_g.12700_12701ins1 commonName ins1
TP53_g.12387_12388ins8 commonName ins8
TP53_g.12492del commonName del1
TP53_g.13366del commonName del1
TP53_g.13793G>A commonName G>A
TP53_g.13793G>A protEffect p.Glu271Glu
TP53_g.12391_12402del commonName del12
TP53_g.12470C>T commonName C>T
TP53_g.12470C>T protEffect p.Ala161Val
TP53_g.12362A>G commonName A>G
TP53_g.12422T>G commonName T>G
TP53_g.12422T>G protEffect p.Leu145Arg
TP53_g.13309G>C commonName G>C
TP53_g.13331_13345del commonName del15
TP53_g.12509G>T commonName G>T
TP53_g.12509G>T protEffect p.Arg174Met
TP53_g.12505_12542del commonName del38
TP53_g.13794del commonName del1
TP53_g.12416T>A commonName T>A
TP53_g.12416T>A protEffect p.Val143Glu
TP53_g.13379del commonName del1
TP53_g.11600_11601ins1 commonName ins1
TP53_g.11415_11434del commonName del20
TP53_g.16906_16913del commonName del8
TP53_g.11607_11608ins1 commonName ins1
TP53_g.11378_11379ins1 commonName ins1
TP53_g.14009_14013del commonName del5
TP53_g.16897G>T commonName G>T
TP53_g.16897G>T protEffect p.Glu336STOP
TP53_g.13860G>A commonName G>A
TP53_g.13860G>A protEffect p.Glu294Lys
TP53_g.12471C>T commonName C>T
TP53_g.12471C>T protEffect p.Ala161Ala
TP53_g.12711_12712ins3 commonName ins3
TP53_g.30001_30002ins1 commonName ins1
TP53_g.12450C>T commonName C>T
TP53_g.12450C>T protEffect p.Gly154Gly
TP53_g.13859G>C commonName G>C
TP53_g.13859G>C protEffect p.Gly293Gly
TP53_g.12448G>A commonName G>A
TP53_g.12448G>A protEffect p.Gly154Ser
TP53_g.13345C>T commonName C>T
TP53_g.13345C>T protEffect p.Tyr236Tyr
TP53_g.13415delinsGC commonName T>GC
TP53_g.12468G>A commonName G>A
TP53_g.12468G>A protEffect p.Met160Ile
TP53_g.14065G>T commonName G>T
TP53_g.14065G>T protEffect p.Gln331His
TP53_g.12476del commonName del1
TP53_g.13846_13847del commonName del2
TP53_g.13355A>T commonName A>T
TP53_g.13355A>T protEffect p.Ser240Cys
TP53_g.12524A>C commonName A>C
TP53_g.12524A>C protEffect p.His179Pro
TP53_g.12696_12701delinsCCCACACGCA commonName AAACAC>CCCACACGCA
TP53_g.16963G>A commonName G>A
TP53_g.16963G>A protEffect p.Glu358Lys
TP53_g.14035del commonName del1
TP53_g.11447_11453del commonName del7
TP53_g.13850C>A commonName C>A
TP53_g.13850C>A protEffect p.Arg290Arg
TP53_g.11437C>G commonName C>G
TP53_g.11437C>G protEffect p.Ala69Gly
TP53_g.13337T>A commonName T>A
TP53_g.13337T>A protEffect p.Tyr234Asn
TP53_g.11410C>T commonName C>T
TP53_g.11410C>T protEffect p.Pro60Leu
TP53_g.13880C>A commonName C>A
TP53_g.13880C>A protEffect p.Pro300Pro
TP53_g.14022A>C commonName A>C
TP53_g.14022A>C protEffect p.Gln317Pro
TP53_g.13877G>C commonName G>C
TP53_g.13877G>C protEffect p.Leu299Leu
TP53_g.12741G>T commonName G>T
TP53_g.12741G>T protEffect p.Glu224Asp
TP53_g.12732G>C commonName G>C
TP53_g.12732G>C protEffect p.Glu221Asp
TP53_g.13314G>A commonName G>A
TP53_g.13314G>A protEffect p.Gly226Asp
TP53_g.12722T>A commonName T>A
TP53_g.12722T>A protEffect p.Val218Glu
TP53_g.12411C>A commonName C>A
TP53_g.12411C>A protEffect p.Cys141STOP
TP53_g.13321C>T commonName C>T
TP53_g.13321C>T protEffect p.Asp228Asp
TP53_g.13322_13336del commonName del15
TP53_g.13900G>C commonName G>C
TP53_g.12508A>G commonName A>G
TP53_g.12508A>G protEffect p.Arg174Gly
TP53_g.13803_13812del commonName del10
TP53_g.12514_12523del commonName del10
TP53_g.13786G>C commonName G>C
TP53_g.13786G>C protEffect p.Ser269Thr
TP53_g.13376A>G commonName A>G
TP53_g.13376A>G protEffect p.Asn247Asp
TP53_g.13408del commonName del1
TP53_g.11400_11416del commonName del17
TP53_g.14042_14043delinsAG commonName GA>AG
TP53_g.14042_14043delinsAG protEffect p.Asp324Ser
TP53_g.11201del commonName del1
TP53_g.12472_12477del commonName del6
TP53_g.13808_13809ins1 commonName ins1
TP53_g.12456del commonName del1
TP53_g.13360_13364del commonName del5
TP53_g.12462del commonName del1
TP53_g.13393del commonName del1
TP53_g.13839_13852del commonName del14
TP53_g.13785_13788del commonName del4
TP53_g.13316_13317del commonName del2
TP53_g.13328_13329del commonName del2
TP53_g.11565_11571del commonName del7
TP53_g.11589del commonName del1
TP53_g.13388A>T commonName A>T
TP53_g.13388A>T protEffect p.Ile251Phe
TP53_g.12376C>A commonName C>A
TP53_g.12376C>A protEffect p.Leu130Ile
TP53_g.13765del commonName del1
TP53_g.13352del commonName del1
TP53_g.12682del commonName del1
TP53_g.12710A>C commonName A>C
TP53_g.12710A>C protEffect p.His214Pro
TP53_g.13879C>T commonName C>T
TP53_g.13879C>T protEffect p.Pro300Leu
TP53_g.12483G>A commonName G>A
TP53_g.12483G>A protEffect p.Gln165Gln
TP53_g.12684T>A commonName T>A
TP53_g.12684T>A protEffect p.Tyr205STOP
TP53_g.12651T>C commonName T>C
TP53_g.12651T>C protEffect p.Leu194Leu
TP53_g.12411_12412ins6 commonName ins6
TP53_g.13888G>A commonName G>A
TP53_g.13888G>A protEffect p.Ser303Asn
TP53_g.13874G>A commonName G>A
TP53_g.13874G>A protEffect p.Glu298Glu
TP53_g.12560G>A commonName G>A
TP53_g.12457_12461del commonName del5
TP53_g.13408G>A commonName G>A
TP53_g.13408G>A protEffect p.Leu257Leu
TP53_g.13811T>C commonName T>C
TP53_g.13811T>C protEffect p.Cys277Cys
TP53_g.11347C>T commonName C>T
TP53_g.11347C>T protEffect p.Ala39Val
TP53_g.12672G>T commonName G>T
TP53_g.12672G>T protEffect p.Leu201Phe
TP53_g.12423_12424ins1 commonName ins1
TP53_g.11328T>A commonName T>A
TP53_g.11328T>A protEffect p.Ser33Thr
TP53_g.16945G>C commonName G>C
TP53_g.16945G>C protEffect p.Asp352His
TP53_g.12676G>T commonName G>T
TP53_g.12676G>T protEffect p.Val203Leu
TP53_g.12439_12440delinsAT commonName CC>AT
TP53_g.12439_12440delinsAT protEffect p.Pro151His
TP53_g.13765G>T commonName G>T
TP53_g.13765G>T protEffect p.Gly262Val
TP53_g.12475del commonName del1
TP53_g.12688_12717del commonName del30
TP53_g.12475_12485del commonName del11
TP53_g.11388T>G commonName T>G
TP53_g.11388T>G protEffect p.Trp53Gly
TP53_g.12391_12425del commonName del35
TP53_g.13319G>C commonName G>C
TP53_g.13319G>C protEffect p.Asp228His
TP53_g.11512C>T commonName C>T
TP53_g.11512C>T protEffect p.Ser94Leu
TP53_g.11520G>T commonName G>T
TP53_g.11520G>T protEffect p.Val97Phe
TP53_g.13779C>G commonName C>G
TP53_g.13779C>G protEffect p.Arg267Gly
TP53_g.13806G>A commonName G>A
TP53_g.13806G>A protEffect p.Ala276Thr
TP53_g.12391T>G commonName T>G
TP53_g.12391T>G protEffect p.Cys135Gly
TP53_g.12400G>A commonName G>A
TP53_g.12400G>A protEffect p.Ala138Thr
TP53_g.12406A>C commonName A>C
TP53_g.12406A>C protEffect p.Thr140Pro
TP53_g.13926G>C commonName G>C
TP53_g.30016_30018del commonName del3
TP53_g.12534C>T commonName C>T
TP53_g.12534C>T protEffect p.Cys182Cys
TP53_g.13917G>C commonName G>C
TP53_g.30016_30017del commonName del2
TP53_g.30017_30018ins2 commonName ins2
TP53_g.12489G>T commonName G>T
TP53_g.12489G>T protEffect p.Gln167His
TP53_g.11056A>T commonName A>T
TP53_g.11056A>T protEffect p.Glu17Asp
TP53_g.11077A>T commonName A>T
TP53_g.11077A>T protEffect p.Lys24Asn
TP53_g.13384_13385ins3 commonName ins3
TP53_g.12643_12645del commonName del3
TP53_g.14008C>A commonName C>A
TP53_g.14008C>A protEffect p.Thr312Thr
TP53_g.12387G>T commonName G>T
TP53_g.12387G>T protEffect p.Met133Ile
TP53_g.12735G>T commonName G>T
TP53_g.12735G>T protEffect p.Pro222Pro
TP53_g.13843A>C commonName A>C
TP53_g.13843A>C protEffect p.Asn288Thr
TP53_g.13774T>A commonName T>A
TP53_g.13774T>A protEffect p.Leu265Gln
TP53_g.13866C>G commonName C>G
TP53_g.13866C>G protEffect p.His296Asp
TP53_g.13322T>A commonName T>A
TP53_g.13322T>A protEffect p.Cys229Ser
TP53_g.13340A>T commonName A>T
TP53_g.13340A>T protEffect p.Asn235Tyr
TP53_g.11500C>T commonName C>T
TP53_g.11500C>T protEffect p.Ser90Phe
TP53_g.11564G>A commonName G>A
TP53_g.11564G>A protEffect p.Leu111Leu
TP53_g.11588C>T commonName C>T
TP53_g.11588C>T protEffect p.Ala119Ala
TP53_g.12386T>C commonName T>C
TP53_g.12386T>C protEffect p.Met133Thr
TP53_g.12409T>C commonName T>C
TP53_g.12409T>C protEffect p.Cys141Arg
TP53_g.12675T>C commonName T>C
TP53_g.12675T>C protEffect p.Arg202Arg
TP53_g.14049A>G commonName A>G
TP53_g.14049A>G protEffect p.Glu326Gly
TP53_g.11339G>T commonName G>T
TP53_g.11339G>T protEffect p.Pro36Pro
TP53_g.11434A>G commonName A>G
TP53_g.11434A>G protEffect p.Glu68Gly
TP53_g.11582G>T commonName G>T
TP53_g.11582G>T protEffect p.Gly117Gly
TP53_g.12423G>T commonName G>T
TP53_g.12423G>T protEffect p.Leu145Leu
TP53_g.12456C>A commonName C>A
TP53_g.12456C>A protEffect p.Arg156Arg
TP53_g.12713_12714delinsAA commonName GT>AA
TP53_g.12713_12714delinsAA protEffect p.Ser215Lys
TP53_g.14046G>A commonName G>A
TP53_g.14046G>A protEffect p.Gly325Glu
TP53_g.11565G>A commonName G>A
TP53_g.11565G>A protEffect p.Gly112Ser
TP53_g.12500A>G commonName A>G
TP53_g.12500A>G protEffect p.Glu171Gly
TP53_g.13996G>A commonName G>A
TP53_g.13996G>A protEffect p.Leu308Leu
TP53_g.11419C>T commonName C>T
TP53_g.11419C>T protEffect p.Ala63Val
TP53_g.11542A>T commonName A>T
TP53_g.11542A>T protEffect p.Gln104Leu
TP53_g.14034A>G commonName A>G
TP53_g.14034A>G protEffect p.Lys321Arg
TP53_g.11574C>T commonName C>T
TP53_g.11574C>T protEffect p.His115Tyr
TP53_g.12704T>C commonName T>C
TP53_g.12704T>C protEffect p.Phe212Ser
TP53_g.14054T>C commonName T>C
TP53_g.14054T>C protEffect p.Phe328Leu
TP53_g.11364C>T commonName C>T
TP53_g.11364C>T protEffect p.Leu45Leu
TP53_g.11579T>C commonName T>C
TP53_g.11579T>C protEffect p.Ser116Ser
TP53_g.12641C>G commonName C>G
TP53_g.12641C>G protEffect p.Pro191Arg
TP53_g.12409T>A commonName T>A
TP53_g.12409T>A protEffect p.Cys141Ser
TP53_g.13887A>T commonName A>T
TP53_g.13887A>T protEffect p.Ser303Cys
TP53_g.13341A>C commonName A>C
TP53_g.13341A>C protEffect p.Asn235Thr
TP53_g.12445_12461del commonName del17
TP53_g.12732G>T commonName G>T
TP53_g.12732G>T protEffect p.Glu221Asp
TP53_g.13785_13792del commonName del8
TP53_g.12467T>A commonName T>A
TP53_g.12467T>A protEffect p.Met160Lys
TP53_g.13842A>G commonName A>G
TP53_g.13842A>G protEffect p.Asn288Asp
TP53_g.13770C>T commonName C>T
TP53_g.13770C>T protEffect p.Leu264Leu
TP53_g.12462C>A commonName C>A
TP53_g.12462C>A protEffect p.Arg158Arg
TP53_g.12695G>T commonName G>T
TP53_g.12695G>T protEffect p.Arg209Ile
TP53_g.13371_13372delinsTA commonName GC>TA
TP53_g.13371_13372delinsTA protEffect p.Gly245Val
TP53_g.13384_13385delinsTG commonName GC>TG
TP53_g.13384_13385delinsTG protEffect R249S;P250A]
TP53_g.13383_13384delinsTT commonName GG>TT
TP53_g.13383_13384delinsTT protEffect p.Arg249Ile
TP53_g.12454_12463del commonName del10
TP53_g.12490_12491delinsGT commonName CA>GT
TP53_g.12490_12491delinsGT protEffect p.His168Val
TP53_g.11539_11565del commonName del27
TP53_g.13376_13381del commonName del6
TP53_g.13415del commonName del1
TP53_g.12437C>A commonName C>A
TP53_g.12437C>A protEffect p.Thr150Lys
TP53_g.13367del commonName del1
TP53_g.12731A>G commonName A>G
TP53_g.12731A>G protEffect p.Glu221Gly
TP53_g.13367G>C commonName G>C
TP53_g.13367G>C protEffect p.Gly244Arg
TP53_g.13397del commonName del1
TP53_g.13349del commonName del1
TP53_g.11460C>G commonName C>G
TP53_g.11460C>G protEffect p.Pro77Ala
TP53_g.12535T>C commonName T>C
TP53_g.12535T>C protEffect p.Ser183Pro
TP53_g.12638_12639ins1 commonName ins1
TP53_g.12420G>C commonName G>C
TP53_g.12420G>C protEffect p.Gln144His
TP53_g.12735G>C commonName G>C
TP53_g.12735G>C protEffect p.Pro222Pro
TP53_g.13884del commonName del1
TP53_g.13706A>G commonName A>G
TP53_g.12418del commonName del1
TP53_g.12558G>T commonName G>T
TP53_g.12484T>G commonName T>G
TP53_g.12484T>G protEffect p.Ser166Ala
TP53_g.12584T>G commonName T>G
TP53_g.12656G>T commonName G>T
TP53_g.12656G>T protEffect p.Arg196Leu
TP53_g.13795T>G commonName T>G
TP53_g.13795T>G protEffect p.Val272Gly
TP53_g.11390G>C commonName G>C
TP53_g.11390G>C protEffect p.Trp53Cys
TP53_g.13781G>A commonName G>A
TP53_g.13781G>A protEffect p.Arg267Arg
TP53_g.11397G>A commonName G>A
TP53_g.11397G>A protEffect p.Glu56Lys
TP53_g.12405G>A commonName G>A
TP53_g.12405G>A protEffect p.Lys139Lys
TP53_g.14025C>T commonName C>T
TP53_g.14025C>T protEffect p.Pro318Leu
TP53_g.12408C>T commonName C>T
TP53_g.12408C>T protEffect p.Thr140Thr
TP53_g.12419A>T commonName A>T
TP53_g.12419A>T protEffect p.Gln144Leu
TP53_g.30014_30015ins42 commonName ins42
TP53_g.12514_12532del commonName del19
TP53_g.13820A>G commonName A>G
TP53_g.13820A>G protEffect p.Arg280Arg
TP53_g.12485_12486ins1 commonName ins1
TP53_g.11563T>C commonName T>C
TP53_g.11563T>C protEffect p.Leu111Pro
TP53_g.12472_12473ins1 commonName ins1
TP53_g.12367T>C commonName T>C
TP53_g.12367T>C protEffect p.Ser127Pro
TP53_g.12650_12651del commonName del2
TP53_g.13395_13396ins1 commonName ins1
TP53_g.13370del commonName del1
TP53_g.12631del commonName del1
TP53_g.13324T>C commonName T>C
TP53_g.13324T>C protEffect p.Cys229Cys
TP53_g.12667A>G commonName A>G
TP53_g.12667A>G protEffect p.Asn200Asp
TP53_g.13824_13825delinsTA commonName CG>TA
TP53_g.13824_13825delinsTA protEffect R282X
TP53_g.12456_12457ins6 commonName ins6
TP53_g.12691_12706del commonName del16
TP53_g.13829_13830ins2 commonName ins2
TP53_g.12524del commonName del1
TP53_g.13325_13326ins1 commonName ins1
TP53_g.13805T>A commonName T>A
TP53_g.13805T>A protEffect p.Cys275STOP
TP53_g.16966del commonName del1
TP53_g.13373del commonName del1
TP53_g.12672_12673ins1 commonName ins1
TP53_g.12473T>A commonName T>A
TP53_g.12473T>A protEffect p.Ile162Asn
TP53_g.12733_12741del commonName del9
TP53_g.12433T>A commonName T>A
TP53_g.12433T>A protEffect p.Ser149Thr
TP53_g.12679_12699del commonName del21
TP53_g.12368C>A commonName C>A
TP53_g.12368C>A protEffect p.Ser127Tyr
TP53_g.13846T>C commonName T>C
TP53_g.13846T>C protEffect p.Leu289Pro
TP53_g.13418A>G commonName A>G
TP53_g.13418A>G protEffect p.Ser261Gly
TP53_g.12455G>A commonName G>A
TP53_g.12455G>A protEffect p.Arg156His
TP53_g.13785A>G commonName A>G
TP53_g.13785A>G protEffect p.Ser269Gly
TP53_g.12391del commonName del1
TP53_g.13814del commonName del1
TP53_g.12718_12731del commonName del14
TP53_g.13331_13336del commonName del6
TP53_g.13352_13362del commonName del11
TP53_g.13836G>C commonName G>C
TP53_g.13836G>C protEffect p.Glu286Gln
TP53_g.12715G>C commonName G>C
TP53_g.12715G>C protEffect p.Val216Leu
TP53_g.12484T>A commonName T>A
TP53_g.12484T>A protEffect p.Ser166Thr
TP53_g.12648T>C commonName T>C
TP53_g.12648T>C protEffect p.His193His
TP53_g.12466A>C commonName A>C
TP53_g.12466A>C protEffect p.Met160Leu
TP53_g.12705T>A commonName T>A
TP53_g.12705T>A protEffect p.Phe212Leu
TP53_g.12660G>A commonName G>A
TP53_g.12660G>A protEffect p.Val197Val
TP53_g.13364A>G commonName A>G
TP53_g.13364A>G protEffect p.Met243Val
TP53_g.12482A>C commonName A>C
TP53_g.12482A>C protEffect p.Gln165Pro
TP53_g.13396C>T commonName C>T
TP53_g.13396C>T protEffect p.Thr253Thr
TP53_g.12718_12720delinsATA commonName GTG>ATA
TP53_g.12718_12720delinsATA protEffect V217I
TP53_g.11368_11369del commonName del2
TP53_g.12540_12541del commonName del2
TP53_g.12490_12496del commonName del7
TP53_g.12513_12514delinsTA commonName CT>TA
TP53_g.12513_12514delinsTA protEffect C176S
TP53_g.12381_12382ins2 commonName ins2
TP53_g.13342_13343ins1 commonName ins1
TP53_g.13931G>A commonName G>A
TP53_g.13824C>A commonName C>A
TP53_g.13824C>A protEffect p.Arg282Arg
TP53_g.13897G>C commonName G>C
TP53_g.13897G>C protEffect p.Arg306Pro
TP53_g.13857G>C commonName G>C
TP53_g.13857G>C protEffect p.Gly293Arg
TP53_g.12488A>T commonName A>T
TP53_g.12488A>T protEffect p.Gln167Leu
TP53_g.12431A>C commonName A>C
TP53_g.12431A>C protEffect p.Asp148Ala
TP53_g.12450_12451ins2 commonName ins2
TP53_g.13385C>A commonName C>A
TP53_g.13385C>A protEffect p.Pro250Thr
TP53_g.11475_11482del commonName del8
TP53_g.12379A>T commonName A>T
TP53_g.12379A>T protEffect p.Asn131Tyr
TP53_g.11398A>T commonName A>T
TP53_g.11398A>T protEffect p.Glu56Val
TP53_g.11451_11461del commonName del11
TP53_g.11585A>G commonName A>G
TP53_g.11585A>G protEffect p.Thr118Thr
TP53_g.12549T>G commonName T>G
TP53_g.12551A>T commonName A>T
TP53_g.12540T>C commonName T>C
TP53_g.12540T>C protEffect p.Asp184Asp
TP53_g.12496A>C commonName A>C
TP53_g.12496A>C protEffect p.Thr170Pro
TP53_g.12492C>T commonName C>T
TP53_g.12492C>T protEffect p.His168His
TP53_g.16913T>G commonName T>G
TP53_g.16913T>G protEffect p.Phe341Cys
TP53_g.13361del commonName del1
TP53_g.13764_13766del commonName del3
TP53_g.16970G>T commonName G>T
TP53_g.16970G>T protEffect p.Gly360Val
TP53_g.13405_13406ins1 commonName ins1
TP53_g.12388T>A commonName T>A
TP53_g.12388T>A protEffect p.Phe134Ile
TP53_g.13767del commonName del1
TP53_g.13899del commonName del1
TP53_g.13418del commonName del1
TP53_g.13421_13430del commonName del10
TP53_g.12454_12455del commonName del2
TP53_g.13370_13371delinsCT commonName GG>CT
TP53_g.13370_13371delinsCT protEffect p.Gly245Leu
TP53_g.12672G>A commonName G>A
TP53_g.12672G>A protEffect p.Leu201Leu
TP53_g.12478_12484del commonName del7
TP53_g.13399_13400ins1 commonName ins1
TP53_g.12697_12703del commonName del7
TP53_g.12675_12676ins2 commonName ins2
TP53_g.13384_13385ins5 commonName ins5
TP53_g.13334_13339del commonName del6
TP53_g.12436_12448del commonName del13
TP53_g.13375_13376ins1 commonName ins1
TP53_g.12498_12499ins2 commonName ins2
TP53_g.13796_13797ins1 commonName ins1
TP53_g.13848_13852del commonName del5
TP53_g.12689A>G commonName A>G
TP53_g.12689A>G protEffect p.Asp207Gly
TP53_g.12523del commonName del1
TP53_g.13823_13824ins6 commonName ins6
TP53_g.12698A>T commonName A>T
TP53_g.12698A>T protEffect p.Asn210Ile
TP53_g.12663A>T commonName A>T
TP53_g.12663A>T protEffect p.Glu198Asp
TP53_g.13797_13798del commonName del2
TP53_g.13832A>T commonName A>T
TP53_g.13832A>T protEffect p.Thr284Thr
TP53_g.13317C>T commonName C>T
TP53_g.13317C>T protEffect p.Ser227Phe
TP53_g.12691G>T commonName G>T
TP53_g.12691G>T protEffect p.Asp208Tyr
TP53_g.12468G>C commonName G>C
TP53_g.12468G>C protEffect p.Met160Ile
TP53_g.13319G>A commonName G>A
TP53_g.13319G>A protEffect p.Asp228Asn
TP53_g.12420G>A commonName G>A
TP53_g.12420G>A protEffect p.Gln144Gln
TP53_g.12701C>A commonName C>A
TP53_g.12701C>A protEffect p.Thr211Asn
TP53_g.13403A>T commonName A>T
TP53_g.13403A>T protEffect p.Thr256Ser
TP53_g.13866_13889del commonName del24
TP53_g.12433T>C commonName T>C
TP53_g.12433T>C protEffect p.Ser149Pro
TP53_g.13797_13800del commonName del4
TP53_g.13890A>G commonName A>G
TP53_g.13890A>G protEffect p.Thr304Ala
TP53_g.13854A>C commonName A>C
TP53_g.13854A>C protEffect p.Lys292Gln
TP53_g.13790T>A commonName T>A
TP53_g.13790T>A protEffect p.Phe270Leu
TP53_g.11476C>T commonName C>T
TP53_g.11476C>T protEffect p.Pro82Leu
TP53_g.13779_13787del commonName del9
TP53_g.12721G>T commonName G>T
TP53_g.12721G>T protEffect p.Val218Leu
TP53_g.13331del commonName del1
TP53_g.12702del commonName del1
TP53_g.12470del commonName del1
TP53_g.13901T>A commonName T>A
TP53_g.12378C>G commonName C>G
TP53_g.12378C>G protEffect p.Leu130Leu
TP53_g.12437C>T commonName C>T
TP53_g.12437C>T protEffect p.Thr150Ile
TP53_g.12430G>T commonName G>T
TP53_g.12430G>T protEffect p.Asp148Tyr
TP53_g.12367del commonName del1
TP53_g.12434C>T commonName C>T
TP53_g.12434C>T protEffect p.Ser149Phe
TP53_g.13833G>T commonName G>T
TP53_g.13833G>T protEffect p.Glu285STOP
TP53_g.13325_13335del commonName del11
TP53_g.13394_13397del commonName del4
TP53_g.13388_13396del commonName del9
TP53_g.13414C>A commonName C>A
TP53_g.13414C>A protEffect p.Asp259Glu
TP53_g.13409_13415del commonName del7
TP53_g.12737C>A commonName C>A
TP53_g.12737C>A protEffect p.Pro223His
TP53_g.12487_12489del commonName del3
TP53_g.12469del commonName del1
TP53_g.12513C>G commonName C>G
TP53_g.12513C>G protEffect p.Arg175Arg
TP53_g.12415_12446del commonName del32
TP53_g.12679_12703del commonName del25
TP53_g.11436del commonName del1
TP53_g.11391_11403del commonName del13
TP53_g.11547_11561del commonName del15
TP53_g.12711_12712ins1 commonName ins1
TP53_g.13315C>T commonName C>T
TP53_g.13315C>T protEffect p.Gly226Gly
TP53_g.12720G>A commonName G>A
TP53_g.12720G>A protEffect p.Val217Val
TP53_g.12723G>A commonName G>A
TP53_g.12723G>A protEffect p.Val218Val
TP53_g.12714T>C commonName T>C
TP53_g.12714T>C protEffect p.Ser215Ser
TP53_g.11484C>T commonName C>T
TP53_g.11484C>T protEffect p.Pro85Ser
TP53_g.11496C>T commonName C>T
TP53_g.11496C>T protEffect p.Pro89Ser
TP53_g.11533A>G commonName A>G
TP53_g.11533A>G protEffect p.Lys101Arg
TP53_g.12382_12383delinsTG commonName AA>TG
TP53_g.12382_12383delinsTG protEffect p.Lys132Trp
TP53_g.11368C>T commonName C>T
TP53_g.11368C>T protEffect p.Ser46Phe
TP53_g.11595G>T commonName G>T
TP53_g.11595G>T protEffect p.Val122Leu
TP53_g.11540C>T commonName C>T
TP53_g.11540C>T protEffect p.Tyr103Tyr
TP53_g.13835G>A commonName G>A
TP53_g.13835G>A protEffect p.Glu285Glu
TP53_g.13857G>A commonName G>A
TP53_g.13857G>A protEffect p.Gly293Arg
TP53_g.11546C>T commonName C>T
TP53_g.11546C>T protEffect p.Gly105Gly
TP53_g.11554G>A commonName G>A
TP53_g.11554G>A protEffect p.Gly108Asp
TP53_g.12733C>T commonName C>T
TP53_g.12733C>T protEffect p.Pro222Ser
TP53_g.13765G>A commonName G>A
TP53_g.13765G>A protEffect p.Gly262Asp
TP53_g.13802T>C commonName T>C
TP53_g.13802T>C protEffect p.Val274Val
TP53_g.13821_13823delinsCGG commonName GAC>CGG
TP53_g.13821_13823delinsCGG protEffect D281R
TP53_g.16980G>A commonName G>A
TP53_g.16980G>A protEffect p.Arg363Arg
TP53_g.13315_13316ins1 commonName ins1
TP53_g.13338A>T commonName A>T
TP53_g.13338A>T protEffect p.Tyr234Phe
TP53_g.13343_13348del commonName del6
TP53_g.12448_12454del commonName del7
TP53_g.14066_14068delinsC commonName GTA>C
TP53_g.13827_13828del commonName del2
TP53_g.12517_12533del commonName del17
TP53_g.12533G>C commonName G>C
TP53_g.12533G>C protEffect p.Cys182Ser
TP53_g.12508_12534del commonName del27
TP53_g.13357_13358del commonName del2
TP53_g.13776_13784del commonName del9
TP53_g.13340_13346del commonName del7
TP53_g.12507_12508ins12 commonName ins12
TP53_g.13352_13363del commonName del12
TP53_g.13899_13911del commonName del13
TP53_g.11569T>G commonName T>G
TP53_g.11569T>G protEffect p.Phe113Cys
TP53_g.11430del commonName del1
TP53_g.13400del commonName del1
TP53_g.13055_14754del commonName del exon5-9
TP53_g.12712A>T commonName A>T
TP53_g.12712A>T protEffect p.Ser215Cys
TP53_g.12429del commonName del1
TP53_g.14452_14588del commonName del exon8
TP53_g.12451_12471del commonName del21
TP53_g.12475_12483del commonName del9
TP53_g.13320_13432del commonName del exon6
TP53_g.11484_11500del commonName del17
TP53_g.11406_11605del commonName del200
TP53_g.13841G>C commonName G>C
TP53_g.13841G>C protEffect p.Glu287Asp
TP53_g.12739G>A commonName G>A
TP53_g.12739G>A protEffect p.Glu224Lys
TP53_g.13764_13786del commonName del23
TP53_g.13770C>A commonName C>A
TP53_g.13770C>A protEffect p.Leu264Ile
TP53_g.11447_11646del commonName del200
TP53_g.16935G>T commonName G>T
TP53_g.16935G>T protEffect p.Leu348Phe
TP53_g.12495_12496ins3 commonName ins3
TP53_g.11572T>A commonName T>A
TP53_g.11572T>A protEffect p.Leu114STOP
TP53_g.12444_12445ins1 commonName ins1
TP53_g.16981G>A commonName G>A
TP53_g.16981G>A protEffect p.Ala364Thr
TP53_g.13310_13315del commonName del6
TP53_g.11451del commonName del1
TP53_g.12451_12456del commonName del6
TP53_g.11427_11434del commonName del8
TP53_g.13403_13409del commonName del7
TP53_g.16918G>T commonName G>T
TP53_g.16918G>T protEffect p.Glu343STOP
TP53_g.17572_17678del commonName del exon10
TP53_g.11601T>C commonName T>C
TP53_g.11601T>C protEffect p.Cys124Arg
TP53_g.11441_11442ins4 commonName ins4
TP53_g.12370del commonName del1
TP53_g.11382del commonName del1
TP53_g.12498G>A commonName G>A
TP53_g.12498G>A protEffect p.Thr170Thr
TP53_g.12436_12441del commonName del6
TP53_g.11484_11497del commonName del14
TP53_g.12653T>A commonName T>A
TP53_g.12653T>A protEffect p.Ile195Asn
TP53_g.14012_14030del commonName del19
TP53_g.14681_14754del commonName del exon9
TP53_g.13386_13387delinsTT commonName CC>TT
TP53_g.13386_13387delinsTT protEffect p.Pro250Leu
TP53_g.12493del commonName del1
TP53_g.12532T>C commonName T>C
TP53_g.12532T>C protEffect p.Cys182Arg
TP53_g.12442C>A commonName C>A
TP53_g.12442C>A protEffect p.Pro152Thr
TP53_g.12469_12471delinsACT commonName GCC>ACT
TP53_g.12469_12471delinsACT protEffect A161T
TP53_g.12379A>G commonName A>G
TP53_g.12379A>G protEffect p.Asn131Asp
TP53_g.13869_13871del commonName del3
TP53_g.13322_13340del commonName del19
TP53_g.13782_13785del commonName del4
TP53_g.12339_12340ins1 commonName ins1
TP53_g.13326del commonName del1
TP53_g.11198del commonName del1
TP53_g.12548G>T commonName G>T
TP53_g.14067T>C commonName T>C
TP53_g.12362A>T commonName A>T
TP53_g.12545A>T commonName A>T
TP53_g.12545A>T protEffect p.Asp186Val
TP53_g.12710del commonName del1
TP53_g.12645G>A commonName G>A
TP53_g.12645G>A protEffect p.Gln192Gln
TP53_g.13818A>C commonName A>C
TP53_g.13818A>C protEffect p.Arg280Arg
TP53_g.11363G>T commonName G>T
TP53_g.11363G>T protEffect p.Met44Ile
TP53_g.13344A>C commonName A>C
TP53_g.13344A>C protEffect p.Tyr236Ser
TP53_g.13365T>C commonName T>C
TP53_g.13365T>C protEffect p.Met243Thr
TP53_g.13893A>G commonName A>G
TP53_g.13893A>G protEffect p.Lys305Glu
TP53_g.12481C>G commonName C>G
TP53_g.12481C>G protEffect p.Gln165Glu
TP53_g.12517_12518delinsAT commonName CC>AT
TP53_g.12517_12518delinsAT protEffect p.Pro177Ile
TP53_g.13406del commonName del1
TP53_g.13766_13767ins5 commonName ins5
TP53_g.13818del commonName del1
TP53_g.12517_12525del commonName del9
TP53_g.13412_13413ins1 commonName ins1
TP53_g.13892T>G commonName T>G
TP53_g.13892T>G protEffect p.Thr304Thr
TP53_g.12522C>T commonName C>T
TP53_g.12522C>T protEffect p.His178His
TP53_g.12497C>A commonName C>A
TP53_g.12497C>A protEffect p.Thr170Lys
TP53_g.12706C>G commonName C>G
TP53_g.12706C>G protEffect p.Arg213Gly
TP53_g.13837A>T commonName A>T
TP53_g.13837A>T protEffect p.Glu286Val
TP53_g.12479A>G commonName A>G
TP53_g.12479A>G protEffect p.Lys164Arg
TP53_g.12421C>G commonName C>G
TP53_g.12421C>G protEffect p.Leu145Val
TP53_g.13331A>G commonName A>G
TP53_g.13331A>G protEffect p.Ile232Val
TP53_g.13860G>C commonName G>C
TP53_g.13860G>C protEffect p.Glu294Gln
TP53_g.12425G>T commonName G>T
TP53_g.12425G>T protEffect p.Trp146Leu
TP53_g.13407T>G commonName T>G
TP53_g.13407T>G protEffect p.Leu257Arg
TP53_g.11036G>A commonName G>A
TP53_g.11036G>A protEffect p.Glu11Lys
TP53_g.12548G>C commonName G>C
TP53_g.13385_13391del commonName del7
TP53_g.12666_12667ins1 commonName ins1
TP53_g.11503G>A commonName G>A
TP53_g.11503G>A protEffect p.Trp91STOP
TP53_g.11446del commonName del1
TP53_g.13319_13320del commonName del2
TP53_g.12720G>C commonName G>C
TP53_g.12720G>C protEffect p.Val217Val
TP53_g.13875del commonName del1
TP53_g.12539_12540del commonName del2
TP53_g.12634G>A commonName G>A
TP53_g.12634G>A protEffect p.Ala189Thr
TP53_g.12716del commonName del1
TP53_g.13786G>A commonName G>A
TP53_g.13786G>A protEffect p.Ser269Asn
TP53_g.12470C>G commonName C>G
TP53_g.12470C>G protEffect p.Ala161Gly
TP53_g.11393_11394ins1 commonName ins1
TP53_g.11390G>A commonName G>A
TP53_g.11390G>A protEffect p.Trp53STOP
TP53_g.13399del commonName del1
TP53_g.13816_13817delinsAA commonName GG>AA
TP53_g.13816_13817delinsAA protEffect p.Gly279Glu
TP53_g.12490_12499del commonName del10
TP53_g.12445_12449del commonName del5
TP53_g.12724C>A commonName C>A
TP53_g.12724C>A protEffect p.Pro219Thr
TP53_g.12730G>A commonName G>A
TP53_g.12730G>A protEffect p.Glu221Lys
TP53_g.14009_14040del commonName del32
TP53_g.13797_13805del commonName del9
TP53_g.12715del commonName del1
TP53_g.13779del commonName del1
TP53_g.12686T>A commonName T>A
TP53_g.12686T>A protEffect p.Leu206STOP
TP53_g.13321C>A commonName C>A
TP53_g.13321C>A protEffect p.Asp228Glu
TP53_g.12547G>C commonName G>C
TP53_g.12547G>C protEffect p.Gly187Arg
TP53_g.13415_13416del commonName del2
TP53_g.12403A>C commonName A>C
TP53_g.12403A>C protEffect p.Lys139Gln
TP53_g.11518C>T commonName C>T
TP53_g.11518C>T protEffect p.Ser96Phe
TP53_g.13372C>A commonName C>A
TP53_g.13372C>A protEffect p.Gly245Gly
TP53_g.13856_13857ins1 commonName ins1
TP53_g.12740A>T commonName A>T
TP53_g.12740A>T protEffect p.Glu224Val
TP53_g.12460_12466del commonName del7
TP53_g.11547_11549del commonName del3
TP53_g.12487C>A commonName C>A
TP53_g.12487C>A protEffect p.Gln167Lys
TP53_g.12500A>T commonName A>T
TP53_g.12500A>T protEffect p.Glu171Val
TP53_g.13333C>A commonName C>A
TP53_g.13333C>A protEffect p.Ile232Ile
TP53_g.12726C>G commonName C>G
TP53_g.12726C>G protEffect p.Pro219Pro
TP53_g.13326C>A commonName C>A
TP53_g.13326C>A protEffect p.Thr230Asn
TP53_g.12687G>C commonName G>C
TP53_g.12687G>C protEffect p.Leu206Phe
TP53_g.13385_13393del commonName del9
TP53_g.13882del commonName del1
TP53_g.13354C>G commonName C>G
TP53_g.13354C>G protEffect p.Asn239Lys
TP53_g.13790T>G commonName T>G
TP53_g.13790T>G protEffect p.Phe270Leu
TP53_g.12399G>T commonName G>T
TP53_g.12399G>T protEffect p.Leu137Leu
TP53_g.12423G>C commonName G>C
TP53_g.12423G>C protEffect p.Leu145Leu
TP53_g.12424T>C commonName T>C
TP53_g.12424T>C protEffect p.Trp146Arg
TP53_g.12637C>A commonName C>A
TP53_g.12637C>A protEffect p.Pro190Thr
TP53_g.13409_13410delinsTT commonName GA>TT
TP53_g.13409_13410delinsTT protEffect p.Glu258Leu
TP53_g.11511del commonName del1
TP53_g.12390T>G commonName T>G
TP53_g.12390T>G protEffect p.Phe134Leu
TP53_g.13342_13343ins4 commonName ins4
TP53_g.11552C>A commonName C>A
TP53_g.11552C>A protEffect p.Tyr107STOP
TP53_g.30002del commonName del1
TP53_g.12403del commonName del1
TP53_g.13387_13388ins3 commonName ins3
TP53_g.13364del commonName del1
TP53_g.13895G>T commonName G>T
TP53_g.13895G>T protEffect p.Lys305Asn
TP53_g.13803T>A commonName T>A
TP53_g.13803T>A protEffect p.Cys275Ser
TP53_g.13372C>G commonName C>G
TP53_g.13372C>G protEffect p.Gly245Gly
TP53_g.13767A>G commonName A>G
TP53_g.13767A>G protEffect p.Asn263Asp
TP53_g.13851A>C commonName A>C
TP53_g.13851A>C protEffect p.Lys291Gln
TP53_g.13885G>C commonName G>C
TP53_g.13885G>C protEffect p.Gly302Ala
TP53_g.13352A>T commonName A>T
TP53_g.13352A>T protEffect p.Asn239Tyr
TP53_g.13826G>T commonName G>T
TP53_g.13826G>T protEffect p.Arg282Arg
TP53_g.13854_13855delinsGG commonName AA>GG
TP53_g.13854_13855delinsGG protEffect p.Lys292Gly
TP53_g.13859G>T commonName G>T
TP53_g.13859G>T protEffect p.Gly293Gly
TP53_g.13872G>C commonName G>C
TP53_g.13872G>C protEffect p.Glu298Gln
TP53_g.13874G>T commonName G>T
TP53_g.13874G>T protEffect p.Glu298Asp
TP53_g.13837_13838delinsGT commonName AA>GT
TP53_g.13837_13838delinsGT protEffect p.Glu286Gly
TP53_g.16951C>G commonName C>G
TP53_g.16951C>G protEffect p.Gln354Glu
TP53_g.13876T>A commonName T>A
TP53_g.13876T>A protEffect p.Leu299Gln
TP53_g.17988_17989ins20 commonName ins20
TP53_g.11504_11505ins1 commonName ins1
TP53_g.12364T>G commonName T>G
TP53_g.12364T>G protEffect p.Tyr126Asp
TP53_g.13395C>A commonName C>A
TP53_g.13395C>A protEffect p.Thr253Asn
TP53_g.13309_13310ins4 commonName ins4
TP53_g.13352A>C commonName A>C
TP53_g.13352A>C protEffect p.Asn239His
TP53_g.13386C>A commonName C>A
TP53_g.13386C>A protEffect p.Pro250His
TP53_g.13394A>G commonName A>G
TP53_g.13394A>G protEffect p.Thr253Ala
TP53_g.12549T>C commonName T>C
TP53_g.12370_12406del commonName del37
TP53_g.12516C>A commonName C>A
TP53_g.12516C>A protEffect p.Cys176STOP
TP53_g.12520_12521ins2 commonName ins2
TP53_g.12482_12483ins1 commonName ins1
TP53_g.12405G>T commonName G>T
TP53_g.12405G>T protEffect p.Lys139Asn
TP53_g.12452C>T commonName C>T
TP53_g.12452C>T protEffect p.Thr155Ile
TP53_g.12387G>A commonName G>A
TP53_g.12387G>A protEffect p.Met133Ile
TP53_g.13384G>A commonName G>A
TP53_g.13384G>A protEffect p.Arg249Arg
TP53_g.12401C>A commonName C>A
TP53_g.12401C>A protEffect p.Ala138Asp
TP53_g.13872_13885del commonName del14
TP53_g.12697A>G commonName A>G
TP53_g.12697A>G protEffect p.Asn210Asp
TP53_g.12697A>C commonName A>C
TP53_g.12697A>C protEffect p.Asn210His
TP53_g.11577T>C commonName T>C
TP53_g.11577T>C protEffect p.Ser116Pro
TP53_g.12367T>A commonName T>A
TP53_g.12367T>A protEffect p.Ser127Thr
TP53_g.12649C>A commonName C>A
TP53_g.12649C>A protEffect p.Leu194Ile
TP53_g.16916G>A commonName G>A
TP53_g.16916G>A protEffect p.Arg342Gln
TP53_g.12364_12554del commonName del191
TP53_g.11589_11637del commonName del49
TP53_g.13764G>T commonName G>T
TP53_g.13764G>T protEffect p.Gly262Cys
TP53_g.11576T>C commonName T>C
TP53_g.11576T>C protEffect p.His115His
TP53_g.13346A>T commonName A>T
TP53_g.13346A>T protEffect p.Met237Leu
TP53_g.11586G>A commonName G>A
TP53_g.11586G>A protEffect p.Ala119Thr
TP53_g.17940C>A commonName C>A
TP53_g.17940C>A protEffect p.Thr377Thr
TP53_g.12385_12545del commonName del161
TP53_g.16901G>T commonName G>T
TP53_g.16901G>T protEffect p.Arg337Leu
TP53_g.12696A>G commonName A>G
TP53_g.12696A>G protEffect p.Arg209Arg
TP53_g.11556T>C commonName T>C
TP53_g.11556T>C protEffect p.Phe109Leu
TP53_g.12630T>C commonName T>C
TP53_g.12630T>C protEffect p.Gly187Gly
TP53_g.12510G>A commonName G>A
TP53_g.12510G>A protEffect p.Arg174Arg
TP53_g.13346_13348del commonName del3
TP53_g.12430del commonName del1
TP53_g.12634del commonName del1
TP53_g.13798_13799delinsAG commonName GT>AG
TP53_g.13798_13799delinsAG protEffect p.Arg273Gln
TP53_g.11219G>T commonName G>T
TP53_g.12661del commonName del1
TP53_g.11589_11605del commonName del17
TP53_g.12453_12454ins1 commonName ins1
TP53_g.12436_12437del commonName del2
TP53_g.13316T>A commonName T>A
TP53_g.13316T>A protEffect p.Ser227Thr
TP53_g.13403_13406del commonName del4
TP53_g.13387C>G commonName C>G
TP53_g.13387C>G protEffect p.Pro250Pro
TP53_g.13788del commonName del1
TP53_g.13996_13997ins1 commonName ins1
TP53_g.13829C>A commonName C>A
TP53_g.13829C>A protEffect p.Arg283Arg
TP53_g.13852A>C commonName A>C
TP53_g.13852A>C protEffect p.Lys291Thr
TP53_g.14014C>T commonName C>T
TP53_g.14014C>T protEffect p.Ser314Ser
TP53_g.13384del commonName del1
TP53_g.13377A>G commonName A>G
TP53_g.13377A>G protEffect p.Asn247Ser
TP53_g.12412C>G commonName C>G
TP53_g.12412C>G protEffect p.Pro142Ala
TP53_g.13827_13853del commonName del27
TP53_g.12478_12487del commonName del10
TP53_g.12538del commonName del1
TP53_g.13796G>A commonName G>A
TP53_g.13796G>A protEffect p.Val272Val
TP53_g.13853G>C commonName G>C
TP53_g.13853G>C protEffect p.Lys291Asn
TP53_g.12428_12429delinsAA commonName TT>AA
TP53_g.12428_12429delinsAA protEffect p.Val147Glu
TP53_g.13833_13834del commonName del2
TP53_g.13859_13860ins1 commonName ins1
TP53_g.12473T>C commonName T>C
TP53_g.12473T>C protEffect p.Ile162Thr
TP53_g.13823C>T commonName C>T
TP53_g.13823C>T protEffect p.Asp281Asp
TP53_g.13802_13803ins1 commonName ins1
TP53_g.12655del commonName del1
TP53_g.13829C>G commonName C>G
TP53_g.13829C>G protEffect p.Arg283Arg
TP53_g.16975del commonName del1
TP53_g.11473C>T commonName C>T
TP53_g.11473C>T protEffect p.Thr81Ile
TP53_g.11532A>T commonName A>T
TP53_g.11532A>T protEffect p.Lys101STOP
TP53_g.13357T>A commonName T>A
TP53_g.13357T>A protEffect p.Ser240Arg
TP53_g.12736C>G commonName C>G
TP53_g.12736C>G protEffect p.Pro223Ala
TP53_g.12500A>C commonName A>C
TP53_g.12500A>C protEffect p.Glu171Ala
TP53_g.14054T>G commonName T>G
TP53_g.14054T>G protEffect p.Phe328Val
TP53_g.13393C>A commonName C>A
TP53_g.13393C>A protEffect p.Leu252Leu
TP53_g.13831C>A commonName C>A
TP53_g.13831C>A protEffect p.Thr284Lys
TP53_g.13376_13377del commonName del2
TP53_g.12690_12691ins1 commonName ins1
TP53_g.12507G>T commonName G>T
TP53_g.12507G>T protEffect p.Val173Val
TP53_g.12472del commonName del1
TP53_g.13857_13891del commonName del35
TP53_g.13803_13829del commonName del27
TP53_g.13346_13350del commonName del5
TP53_g.12469G>C commonName G>C
TP53_g.12469G>C protEffect p.Ala161Pro
TP53_g.12403A>G commonName A>G
TP53_g.12403A>G protEffect p.Lys139Glu
TP53_g.12669T>A commonName T>A
TP53_g.12669T>A protEffect p.Asn200Lys
TP53_g.13762G>A commonName G>A
TP53_g.12631C>G commonName C>G
TP53_g.12631C>G protEffect p.Leu188Val
TP53_g.12674_12675ins2 commonName ins2
TP53_g.12477C>T commonName C>T
TP53_g.12477C>T protEffect p.Tyr163Tyr
TP53_g.13373A>C commonName A>C
TP53_g.13373A>C protEffect p.Met246Leu
TP53_g.12397C>A commonName C>A
TP53_g.12397C>A protEffect p.Leu137Met
TP53_g.13389T>C commonName T>C
TP53_g.13389T>C protEffect p.Ile251Thr
TP53_g.13799T>C commonName T>C
TP53_g.13799T>C protEffect p.Arg273Arg
TP53_g.13804G>C commonName G>C
TP53_g.13804G>C protEffect p.Cys275Ser
TP53_g.13352_13358del commonName del7
TP53_g.14011C>T commonName C>T
TP53_g.14011C>T protEffect p.Ser313Ser
TP53_g.11603C>G commonName C>G
TP53_g.11603C>G protEffect p.Cys124Trp
TP53_g.12786_12788delinsAGTTA commonName GTT>AGTTA
TP53_g.13311T>G commonName T>G
TP53_g.13311T>G protEffect p.Val225Gly
TP53_g.13397A>G commonName A>G
TP53_g.13397A>G protEffect p.Ile254Val
TP53_g.13799T>G commonName T>G
TP53_g.13799T>G protEffect p.Arg273Arg
TP53_g.13805_13806ins8 commonName ins8
TP53_g.13309G>A commonName G>A
TP53_g.13900G>A commonName G>A
TP53_g.13784_13785ins1 commonName ins1
TP53_g.12438A>G commonName A>G
TP53_g.12438A>G protEffect p.Thr150Thr
TP53_g.12642T>C commonName T>C
TP53_g.12642T>C protEffect p.Pro191Pro
TP53_g.13868C>T commonName C>T
TP53_g.13868C>T protEffect p.His296His
TP53_g.13832A>C commonName A>C
TP53_g.13832A>C protEffect p.Thr284Thr
TP53_g.13337_13339delinsCAG commonName TAC>CAG
TP53_g.13337_13339delinsCAG protEffect Y234Q
TP53_g.12678_12679ins2 commonName ins2
TP53_g.12387_12388ins1 commonName ins1
TP53_g.13346_13354del commonName del9
TP53_g.13829_13830ins8 commonName ins8
TP53_g.12510_12511ins3 commonName ins3
TP53_g.30007del commonName del1
TP53_g.11479C>A commonName C>A
TP53_g.11479C>A protEffect p.Ala83Glu
TP53_g.13823_13824delinsGT commonName CC>GT
TP53_g.13823_13824delinsGT protEffect D281E;R282W]
TP53_g.14044T>C commonName T>C
TP53_g.14044T>C protEffect p.Asp324Asp
TP53_g.12460C>A commonName C>A
TP53_g.12460C>A protEffect p.Arg158Ser
TP53_g.11510G>A commonName G>A
TP53_g.11510G>A protEffect p.Leu93Leu
TP53_g.12356_12366del commonName del11
TP53_g.12459_12460ins1 commonName ins1
TP53_g.16958G>C commonName G>C
TP53_g.16958G>C protEffect p.Gly356Ala
TP53_g.12652_12666del commonName del15
TP53_g.13379_13387del commonName del9
TP53_g.13351_13352ins3 commonName ins3
TP53_g.13961_14009del commonName del49
TP53_g.11382_11421del commonName del40
TP53_g.13349_13360del commonName del12
TP53_g.13369_13370ins11 commonName ins11
TP53_g.13318_13319ins13 commonName ins13
TP53_g.12557_12571del commonName del15
TP53_g.13397A>T commonName A>T
TP53_g.13397A>T protEffect p.Ile254Phe
TP53_g.12513_12514ins2 commonName ins2
TP53_g.11580G>A commonName G>A
TP53_g.11580G>A protEffect p.Gly117Arg
TP53_g.13322del commonName del1
TP53_g.13346del commonName del1
TP53_g.13766_13767ins1 commonName ins1
TP53_g.13844_13845ins1 commonName ins1
TP53_g.13802_13803ins3 commonName ins3
TP53_g.13775_13776ins1 commonName ins1
TP53_g.14015del commonName del1
TP53_g.14007C>T commonName C>T
TP53_g.14007C>T protEffect p.Thr312Ile
TP53_g.12717_12718ins1 commonName ins1
TP53_g.11474_11475ins5 commonName ins5
TP53_g.13785A>T commonName A>T
TP53_g.13785A>T protEffect p.Ser269Cys
TP53_g.12373G>A commonName G>A
TP53_g.12373G>A protEffect p.Ala129Thr
TP53_g.13769del commonName del1
TP53_g.12510del commonName del1
TP53_g.12712del commonName del1
TP53_g.12654del commonName del1
TP53_g.12711T>A commonName T>A
TP53_g.12711T>A protEffect p.His214Gln
TP53_g.12480G>A commonName G>A
TP53_g.12480G>A protEffect p.Lys164Lys
TP53_g.12432T>G commonName T>G
TP53_g.12432T>G protEffect p.Asp148Glu
TP53_g.13402C>G commonName C>G
TP53_g.13402C>G protEffect p.Ile255Met
TP53_g.11400_11459del commonName del60
TP53_g.13349_13351del commonName del3
TP53_g.16931C>G commonName C>G
TP53_g.16931C>G protEffect p.Ala347Gly
TP53_g.11563T>G commonName T>G
TP53_g.11563T>G protEffect p.Leu111Arg
TP53_g.13350_13352del commonName del3
TP53_g.13400A>G commonName A>G
TP53_g.13400A>G protEffect p.Ile255Val
TP53_g.12649C>G commonName C>G
TP53_g.12649C>G protEffect p.Leu194Val
TP53_g.16915_16921del commonName del7
TP53_g.12676G>C commonName G>C
TP53_g.12676G>C protEffect p.Val203Leu
TP53_g.13358_13389del commonName del32
TP53_g.13387_13388ins1 commonName ins1
TP53_g.12652A>G commonName A>G
TP53_g.12652A>G protEffect p.Ile195Val
TP53_g.13820A>C commonName A>C
TP53_g.13820A>C protEffect p.Arg280Ser
TP53_g.13363_13364ins1 commonName ins1
TP53_g.13806del commonName del1
TP53_g.12483_12484ins1 commonName ins1
TP53_g.12454_12465del commonName del12
TP53_g.13815_13820del commonName del6
TP53_g.13363_13364ins3 commonName ins3
TP53_g.13867A>T commonName A>T
TP53_g.13867A>T protEffect p.His296Leu
TP53_g.12459C>T commonName C>T
TP53_g.12459C>T protEffect p.Val157Val
TP53_g.11445_11450del commonName del6
TP53_g.12692_12693delinsTT commonName AC>TT
TP53_g.12692_12693delinsTT protEffect p.Asp208Val
TP53_g.13417_13422del commonName del6
TP53_g.12495G>T commonName G>T
TP53_g.12495G>T protEffect p.Met169Ile
TP53_g.12538G>A commonName G>A
TP53_g.12538G>A protEffect p.Asp184Asn
TP53_g.13777G>C commonName G>C
TP53_g.13777G>C protEffect p.Gly266Ala
TP53_g.13881_13882del commonName del2
TP53_g.13878_13966del commonName del89
TP53_g.13803_13817del commonName del15
TP53_g.13890del commonName del1
TP53_g.12462_12463ins1 commonName ins1
TP53_g.11588C>G commonName C>G
TP53_g.11588C>G protEffect p.Ala119Ala
TP53_g.16922T>G commonName T>G
TP53_g.16922T>G protEffect p.Leu344Arg
TP53_g.12629G>A commonName G>A
TP53_g.12629G>A protEffect p.Gly187Asp
TP53_g.11541C>T commonName C>T
TP53_g.11541C>T protEffect p.Gln104STOP
TP53_g.13836del commonName del1
TP53_g.13872G>A commonName G>A
TP53_g.13872G>A protEffect p.Glu298Lys
TP53_g.13365T>G commonName T>G
TP53_g.13365T>G protEffect p.Met243Arg
TP53_g.13390C>A commonName C>A
TP53_g.13390C>A protEffect p.Ile251Ile
TP53_g.13369C>A commonName C>A
TP53_g.13369C>A protEffect p.Gly244Gly
TP53_g.13365T>A commonName T>A
TP53_g.13365T>A protEffect p.Met243Lys
TP53_g.13363C>A commonName C>A
TP53_g.13363C>A protEffect p.Cys242STOP
TP53_g.12709C>G commonName C>G
TP53_g.12709C>G protEffect p.His214Asp
TP53_g.12766G>C commonName G>C
TP53_g.13771T>A commonName T>A
TP53_g.13771T>A protEffect p.Leu264Gln
TP53_g.12692A>G commonName A>G
TP53_g.12692A>G protEffect p.Asp208Gly
TP53_g.12706_12712del commonName del7
TP53_g.12368del commonName del1
TP53_g.12375_12382del commonName del8
TP53_g.12669del commonName del1
TP53_g.12694_12713del commonName del20
TP53_g.12714_12715ins5 commonName ins5
TP53_g.13355_13356del commonName del2
TP53_g.13360del commonName del1
TP53_g.13804_13805del commonName del2
TP53_g.12426_12427ins21 commonName ins21
TP53_g.13763T>G commonName T>G
TP53_g.13763T>G protEffect p.Ser261Arg
TP53_g.13357T>G commonName T>G
TP53_g.13357T>G protEffect p.Ser240Arg
TP53_g.13842_13843del commonName del2
TP53_g.14012del commonName del1
TP53_g.13883A>G commonName A>G
TP53_g.13883A>G protEffect p.Pro301Pro
TP53_g.13406_13413del commonName del8
TP53_g.11567C>G commonName C>G
TP53_g.11567C>G protEffect p.Gly112Gly
TP53_g.12477C>A commonName C>A
TP53_g.12477C>A protEffect p.Tyr163STOP
TP53_g.13331_13351del commonName del21
TP53_g.13346_13351del commonName del6
TP53_g.12727T>G commonName T>G
TP53_g.12727T>G protEffect p.Tyr220Asp
TP53_g.13791_13802del commonName del12
TP53_g.12641C>T commonName C>T
TP53_g.12641C>T protEffect p.Pro191Leu
TP53_g.11437C>A commonName C>A
TP53_g.11437C>A protEffect p.Ala69Asp
TP53_g.11567C>A commonName C>A
TP53_g.11567C>A protEffect p.Gly112Gly
TP53_g.12505_12506ins18 commonName ins18
TP53_g.12743T>G commonName T>G
TP53_g.13923G>A commonName G>A
TP53_g.13892_13893ins1 commonName ins1
TP53_g.12409_12416del commonName del8
TP53_g.12711T>C commonName T>C
TP53_g.12711T>C protEffect p.His214His
TP53_g.12719_12732del commonName del14
TP53_g.13855A>T commonName A>T
TP53_g.13855A>T protEffect p.Lys292Ile
TP53_g.13894_13895delinsCT commonName AG>CT
TP53_g.13894_13895delinsCT protEffect p.Lys305Thr
TP53_g.13786del commonName del1
TP53_g.12498_12499ins1 commonName ins1
TP53_g.30003_30026del commonName del24
TP53_g.13851A>G commonName A>G
TP53_g.13851A>G protEffect p.Lys291Glu
TP53_g.13869C>A commonName C>A
TP53_g.13869C>A protEffect p.His297Asn
TP53_g.13156G>T commonName G>T
TP53_g.13443C>A commonName C>A
TP53_g.13402C>T commonName C>T
TP53_g.13402C>T protEffect p.Ile255Ile
TP53_g.12722T>C commonName T>C
TP53_g.12722T>C protEffect p.Val218Ala
TP53_g.13773_13781del commonName del9
TP53_g.12706_12707del commonName del2
TP53_g.12366C>A commonName C>A
TP53_g.12366C>A protEffect p.Tyr126STOP
TP53_g.11370_11506del commonName del137
TP53_g.12484T>C commonName T>C
TP53_g.12484T>C protEffect p.Ser166Pro
TP53_g.11590A>G commonName A>G
TP53_g.11590A>G protEffect p.Lys120Arg
TP53_g.12430_12431del commonName del2
TP53_g.13391_13393del commonName del3
TP53_g.12373_12375del commonName del3
TP53_g.12713G>C commonName G>C
TP53_g.12713G>C protEffect p.Ser215Thr
TP53_g.12447C>A commonName C>A
TP53_g.12447C>A protEffect p.Pro153Pro
TP53_g.13325A>G commonName A>G
TP53_g.13325A>G protEffect p.Thr230Ala
TP53_g.13345_13346ins3 commonName ins3
TP53_g.12661_12669del commonName del9
TP53_g.12539A>G commonName A>G
TP53_g.12539A>G protEffect p.Asp184Gly
TP53_g.13385_13394del commonName del10
TP53_g.12456_12457ins4 commonName ins4
TP53_g.11514T>A commonName T>A
TP53_g.11514T>A protEffect p.Ser95Thr
TP53_g.14012_14016del commonName del5
TP53_g.12451_12462del commonName del12
TP53_g.13898A>G commonName A>G
TP53_g.13898A>G protEffect p.Arg306Arg
TP53_g.11364C>A commonName C>A
TP53_g.11364C>A protEffect p.Leu45Met
TP53_g.11529del commonName del1
TP53_g.13994del commonName del1
TP53_g.13860_13882del commonName del23
TP53_g.13785_13831del commonName del47
TP53_g.12472_12478del commonName del7
TP53_g.13858G>T commonName G>T
TP53_g.13858G>T protEffect p.Gly293Val
TP53_g.14027_14077del commonName del51
TP53_g.11568_11571del commonName del4
TP53_g.12450C>G commonName C>G
TP53_g.12450C>G protEffect p.Gly154Gly
TP53_g.12743T>C commonName T>C
TP53_g.12419A>G commonName A>G
TP53_g.12419A>G protEffect p.Gln144Arg
TP53_g.12644A>T commonName A>T
TP53_g.12644A>T protEffect p.Gln192Leu
TP53_g.12673C>A commonName C>A
TP53_g.12673C>A protEffect p.Arg202Ser
TP53_g.12651T>G commonName T>G
TP53_g.12651T>G protEffect p.Leu194Leu
TP53_g.13799_13800ins1 commonName ins1
TP53_g.13881C>T commonName C>T
TP53_g.13881C>T protEffect p.Pro301Ser
TP53_g.11607G>A commonName G>A
TP53_g.13808C>A commonName C>A
TP53_g.13808C>A protEffect p.Ala276Ala
TP53_g.13394A>C commonName A>C
TP53_g.13394A>C protEffect p.Thr253Pro
TP53_g.12526G>A commonName G>A
TP53_g.12526G>A protEffect p.Glu180Lys
TP53_g.12651del commonName del1
TP53_g.12376del commonName del1
TP53_g.12420_12431del commonName del12
TP53_g.12502_12547del commonName del46
TP53_g.13384_13385ins1 commonName ins1
TP53_g.12523_12525delinsTAG commonName CAT>TAG
TP53_g.12523_12525delinsTAG protEffect H179X
TP53_g.13837A>C commonName A>C
TP53_g.13837A>C protEffect p.Glu286Ala
TP53_g.13840A>T commonName A>T
TP53_g.13840A>T protEffect p.Glu287Val
TP53_g.12656del commonName del1
TP53_g.12685_12689del commonName del5
TP53_g.12359_12363del commonName del5
TP53_g.13378_13379delinsAT commonName CC>AT
TP53_g.13378_13379delinsAT protEffect N247K;R248W]
TP53_g.12409_12410ins1 commonName ins1
TP53_g.12489G>A commonName G>A
TP53_g.12489G>A protEffect p.Gln167Gln
TP53_g.12361C>T commonName C>T
TP53_g.13311T>A commonName T>A
TP53_g.13311T>A protEffect p.Val225Asp
TP53_g.12450C>A commonName C>A
TP53_g.12450C>A protEffect p.Gly154Gly
TP53_g.12536C>T commonName C>T
TP53_g.12536C>T protEffect p.Ser183Leu
TP53_g.12456C>G commonName C>G
TP53_g.12456C>G protEffect p.Arg156Arg
TP53_g.12414T>C commonName T>C
TP53_g.12414T>C protEffect p.Pro142Pro
TP53_g.12717_12718ins8 commonName ins8
TP53_g.13803del commonName del1
TP53_g.12452C>G commonName C>G
TP53_g.12452C>G protEffect p.Thr155Ser
TP53_g.12397_12426del commonName del30
TP53_g.12517_12528del commonName del12
TP53_g.12469_12472del commonName del4
TP53_g.13791_13792delinsCG commonName GA>CG
TP53_g.13791_13792delinsCG protEffect p.Glu271Arg
TP53_g.14008_14009ins1 commonName ins1
TP53_g.14053T>G commonName T>G
TP53_g.14053T>G protEffect p.Tyr327STOP
TP53_g.12680A>C commonName A>C
TP53_g.12680A>C protEffect p.Glu204Ala
TP53_g.13353A>T commonName A>T
TP53_g.13353A>T protEffect p.Asn239Ile
TP53_g.12531C>T commonName C>T
TP53_g.12531C>T protEffect p.Arg181Arg
TP53_g.12369C>T commonName C>T
TP53_g.12369C>T protEffect p.Ser127Ser
TP53_g.12646C>A commonName C>A
TP53_g.12646C>A protEffect p.His193Asn
TP53_g.13329C>T commonName C>T
TP53_g.13329C>T protEffect p.Thr231Ile
TP53_g.12399_12400ins1 commonName ins1
TP53_g.12492C>A commonName C>A
TP53_g.12492C>A protEffect p.His168Gln
TP53_g.12630_12631ins1 commonName ins1
TP53_g.13373_13387del commonName del15
TP53_g.12403_12407del commonName del5
TP53_g.13337_13344del commonName del8
TP53_g.13362_13363delinsTT commonName GC>TT
TP53_g.13362_13363delinsTT protEffect p.Cys242Phe
TP53_g.13921C>T commonName C>T
TP53_g.12466del commonName del1
TP53_g.12436_12454del commonName del19
TP53_g.12720_12721ins5 commonName ins5
TP53_g.13369C>G commonName C>G
TP53_g.13369C>G protEffect p.Gly244Gly
TP53_g.12527A>G commonName A>G
TP53_g.12527A>G protEffect p.Glu180Gly
TP53_g.12703T>C commonName T>C
TP53_g.12703T>C protEffect p.Phe212Leu
TP53_g.13797del commonName del1
TP53_g.12408C>A commonName C>A
TP53_g.12408C>A protEffect p.Thr140Thr
TP53_g.13802T>G commonName T>G
TP53_g.13802T>G protEffect p.Val274Val
TP53_g.12509G>C commonName G>C
TP53_g.12509G>C protEffect p.Arg174Thr
TP53_g.13784C>T commonName C>T
TP53_g.13784C>T protEffect p.Asn268Asn
TP53_g.13360C>T commonName C>T
TP53_g.13360C>T protEffect p.Ser241Ser
TP53_g.13397A>C commonName A>C
TP53_g.13397A>C protEffect p.Ile254Leu
TP53_g.13853G>A commonName G>A
TP53_g.13853G>A protEffect p.Lys291Lys
TP53_g.12405_12406ins1 commonName ins1
TP53_g.12513C>A commonName C>A
TP53_g.12513C>A protEffect p.Arg175Arg
TP53_g.13388A>G commonName A>G
TP53_g.13388A>G protEffect p.Ile251Val
TP53_g.11338C>T commonName C>T
TP53_g.11338C>T protEffect p.Pro36Leu
TP53_g.11205A>C commonName A>C
TP53_g.11205A>C protEffect p.Glu28Ala
TP53_g.14020_14021ins1 commonName ins1
TP53_g.11589_11788del commonName del200
TP53_g.11553_11563del commonName del11
TP53_g.13353_13354delinsGT commonName AC>GT
TP53_g.13353_13354delinsGT protEffect p.Asn239Ser
TP53_g.12643C>A commonName C>A
TP53_g.12643C>A protEffect p.Gln192Lys
TP53_g.12645G>C commonName G>C
TP53_g.12645G>C protEffect p.Gln192His
TP53_g.12408_12409ins1 commonName ins1
TP53_g.16905_16906ins16 commonName ins16
TP53_g.13990A>G commonName A>G
TP53_g.16924del commonName del1
TP53_g.13761_13762ins3 commonName ins3
TP53_g.12412_12413delinsTT commonName CC>TT
TP53_g.12412_12413delinsTT protEffect p.Pro142Phe
TP53_g.12368_12369delinsTT commonName CC>TT
TP53_g.12368_12369delinsTT protEffect p.Ser127Phe
TP53_g.12733_12734delinsTT commonName CC>TT
TP53_g.12733_12734delinsTT protEffect p.Pro222Leu
TP53_g.13359_13360delinsTT commonName CC>TT
TP53_g.13359_13360delinsTT protEffect p.Ser241Phe
TP53_g.12401_12402delinsTT commonName CC>TT
TP53_g.12401_12402delinsTT protEffect p.Ala138Val
TP53_g.12725_12726delinsTT commonName CC>TT
TP53_g.12725_12726delinsTT protEffect p.Pro219Leu
TP53_g.13851_13869del commonName del19
TP53_g.12721_12730del commonName del10
TP53_g.13815_13818del commonName del4
TP53_g.11526_11527del commonName del2
TP53_g.30000_30001ins16 commonName ins16
TP53_g.13845del commonName del1
TP53_g.12678G>A commonName G>A
TP53_g.12678G>A protEffect p.Val203Val
TP53_g.13310_13311del commonName del2
TP53_g.13334C>T commonName C>T
TP53_g.13334C>T protEffect p.His233Tyr
TP53_g.12397C>T commonName C>T
TP53_g.12397C>T protEffect p.Leu137Leu
TP53_g.12544G>A commonName G>A
TP53_g.12544G>A protEffect p.Asp186Asn
TP53_g.11467C>G commonName C>G
TP53_g.11467C>G protEffect p.Ala79Gly
TP53_g.12382del commonName del1
TP53_g.12411del commonName del1
TP53_g.13768_13769ins1 commonName ins1
TP53_g.12538G>C commonName G>C
TP53_g.12538G>C protEffect p.Asp184His
TP53_g.12406_12407ins1 commonName ins1
TP53_g.12520_12521ins1 commonName ins1
TP53_g.12491_12492ins1 commonName ins1
TP53_g.12404del commonName del1
TP53_g.12729_12730ins1 commonName ins1
TP53_g.13343_13345del commonName del3
TP53_g.12397del commonName del1
TP53_g.12429_12430ins2 commonName ins2
TP53_g.12456_12457ins1 commonName ins1
TP53_g.12459_12460ins4 commonName ins4
TP53_g.12595_12616del commonName del22
TP53_g.12639_12640ins2 commonName ins2
TP53_g.13281_13304del commonName del24
TP53_g.13352_13357del commonName del6
TP53_g.13364_13371del commonName del8
TP53_g.13841G>T commonName G>T
TP53_g.13841G>T protEffect p.Glu287Asp
TP53_g.11424_11444del commonName del21
TP53_g.12700_12714del commonName del15
TP53_g.12727_12733del commonName del7
TP53_g.13322T>G commonName T>G
TP53_g.13322T>G protEffect p.Cys229Gly
TP53_g.13394_13396del commonName del3
TP53_g.13884_13888del commonName del5
TP53_g.11501_11502ins1 commonName ins1
TP53_g.13342_13343ins2 commonName ins2
TP53_g.14003A>C commonName A>C
TP53_g.14003A>C protEffect p.Asn311His
TP53_g.16891del commonName del1
TP53_g.12702T>C commonName T>C
TP53_g.12702T>C protEffect p.Thr211Thr
TP53_g.12658G>T commonName G>T
TP53_g.12658G>T protEffect p.Val197Leu
TP53_g.12725C>A commonName C>A
TP53_g.12725C>A protEffect p.Pro219His
TP53_g.12476A>C commonName A>C
TP53_g.12476A>C protEffect p.Tyr163Ser
TP53_g.12421_12423del commonName del3
TP53_g.12733_12736del commonName del4
TP53_g.12381_12383del commonName del3
TP53_g.12430_12458del commonName del29
TP53_g.12400_12403del commonName del4
TP53_g.12498_12499ins6 commonName ins6
TP53_g.13845C>T commonName C>T
TP53_g.13845C>T protEffect p.Leu289Phe
TP53_g.13333_13334ins1 commonName ins1
TP53_g.12550G>C commonName G>C
TP53_g.17926del commonName del1
TP53_g.12688_12708del commonName del21
TP53_g.13418_13441del commonName del24
TP53_g.11563T>A commonName T>A
TP53_g.11563T>A protEffect p.Leu111Gln
TP53_g.13379_13381delinsTGC commonName CGG>TGC
TP53_g.13379_13381delinsTGC protEffect R248C
TP53_g.12571C>T commonName C>T
TP53_g.12528G>C commonName G>C
TP53_g.12528G>C protEffect p.Glu180Asp
TP53_g.12511_12528del commonName del18
TP53_g.13848_13858del commonName del11
TP53_g.13826_13827ins2 commonName ins2
TP53_g.13791_13793del commonName del3
TP53_g.12638C>G commonName C>G
TP53_g.12638C>G protEffect p.Pro190Arg
TP53_g.11470C>T commonName C>T
TP53_g.11470C>T protEffect p.Pro80Leu
TP53_g.11485C>T commonName C>T
TP53_g.11485C>T protEffect p.Pro85Leu
TP53_g.11544del commonName del1
TP53_g.12414T>A commonName T>A
TP53_g.12414T>A protEffect p.Pro142Pro
TP53_g.13379C>A commonName C>A
TP53_g.13379C>A protEffect p.Arg248Arg
TP53_g.12730_12734del commonName del5
TP53_g.12545A>G commonName A>G
TP53_g.12545A>G protEffect p.Asp186Gly
TP53_g.11449del commonName del1
TP53_g.12637C>T commonName C>T
TP53_g.12637C>T protEffect p.Pro190Ser
TP53_g.13854A>T commonName A>T
TP53_g.13854A>T protEffect p.Lys292STOP
TP53_g.13794_13856del commonName del63
TP53_g.14020_14021delinsTT commonName CC>TT
TP53_g.14020_14021delinsTT protEffect Q317X
TP53_g.30004_30022del commonName del19
TP53_g.14059C>A commonName C>A
TP53_g.14059C>A protEffect p.Thr329Thr
TP53_g.12454_12457del commonName del4
TP53_g.12706_12709del commonName del4
TP53_g.13388_13399del commonName del12
TP53_g.13419del commonName del1
TP53_g.12542G>T commonName G>T
TP53_g.12542G>T protEffect p.Ser185Ile
TP53_g.12529C>A commonName C>A
TP53_g.12529C>A protEffect p.Arg181Ser
TP53_g.12645G>T commonName G>T
TP53_g.12645G>T protEffect p.Gln192His
TP53_g.12394del commonName del1
TP53_g.13337_13338del commonName del2
TP53_g.12714T>A commonName T>A
TP53_g.12714T>A protEffect p.Ser215Arg
TP53_g.12685T>A commonName T>A
TP53_g.12685T>A protEffect p.Leu206Met
TP53_g.13415T>A commonName T>A
TP53_g.13415T>A protEffect p.Ser260Thr
TP53_g.13778A>T commonName A>T
TP53_g.13778A>T protEffect p.Gly266Gly
TP53_g.13312T>C commonName T>C
TP53_g.13312T>C protEffect p.Val225Val
TP53_g.12421C>A commonName C>A
TP53_g.12421C>A protEffect p.Leu145Met
TP53_g.12679_12691del commonName del13
TP53_g.12701_12702del commonName del2
TP53_g.12435_12436ins1 commonName ins1
TP53_g.13777del commonName del1
TP53_g.30017_30022del commonName del6
TP53_g.12502G>A commonName G>A
TP53_g.12502G>A protEffect p.Val172Ile
TP53_g.12690_12691delinsGT commonName TG>GT
TP53_g.12690_12691delinsGT protEffect D207E;D208Y]
TP53_g.13347T>C commonName T>C
TP53_g.13347T>C protEffect p.Met237Thr
TP53_g.12639T>A commonName T>A
TP53_g.12639T>A protEffect p.Pro190Pro
TP53_g.13877G>T commonName G>T
TP53_g.13877G>T protEffect p.Leu299Leu
TP53_g.12734C>G commonName C>G
TP53_g.12734C>G protEffect p.Pro222Arg
TP53_g.13809T>C commonName T>C
TP53_g.13809T>C protEffect p.Cys277Arg
TP53_g.13411A>C commonName A>C
TP53_g.13411A>C protEffect p.Glu258Asp
TP53_g.13382_13388del commonName del7
TP53_g.13313del commonName del1
TP53_g.11495_11496ins1 commonName ins1
TP53_g.12649del commonName del1
TP53_g.13344A>T commonName A>T
TP53_g.13344A>T protEffect p.Tyr236Phe
TP53_g.13385_13396del commonName del12
TP53_g.12668A>G commonName A>G
TP53_g.12668A>G protEffect p.Asn200Ser
TP53_g.12514_12516del commonName del3
TP53_g.12736C>T commonName C>T
TP53_g.12736C>T protEffect p.Pro223Ser
TP53_g.12519C>G commonName C>G
TP53_g.12519C>G protEffect p.Pro177Pro
TP53_g.12364_12381del commonName del18
TP53_g.12429_12430ins1 commonName ins1
TP53_g.11569T>C commonName T>C
TP53_g.11569T>C protEffect p.Phe113Ser
TP53_g.30019_30020ins6 commonName ins6
TP53_g.12405_12410del commonName del6
TP53_g.12364_12365delinsGG commonName TA>GG
TP53_g.12364_12365delinsGG protEffect p.Tyr126Gly
TP53_g.13416C>A commonName C>A
TP53_g.13416C>A protEffect p.Ser260Tyr
TP53_g.11597_11598ins1 commonName ins1
TP53_g.13999C>T commonName C>T
TP53_g.13999C>T protEffect p.Pro309Pro
TP53_g.14016C>T commonName C>T
TP53_g.14016C>T protEffect p.Ser315Phe
TP53_g.12718_12723del commonName del6
TP53_g.13412_13414delinsCCG commonName GAC>CCG
TP53_g.13412_13414delinsCCG protEffect D259P
TP53_g.13322T>C commonName T>C
TP53_g.13322T>C protEffect p.Cys229Arg
TP53_g.13311T>C commonName T>C
TP53_g.13311T>C protEffect p.Val225Ala
TP53_g.11565_11579del commonName del15
TP53_g.11455C>G commonName C>G
TP53_g.11455C>G protEffect p.Pro75Arg
TP53_g.12629G>T commonName G>T
TP53_g.12629G>T protEffect p.Gly187Val
TP53_g.13855A>C commonName A>C
TP53_g.13855A>C protEffect p.Lys292Thr
TP53_g.11544G>C commonName G>C
TP53_g.11544G>C protEffect p.Gly105Arg
TP53_g.11540C>A commonName C>A
TP53_g.11540C>A protEffect p.Tyr103STOP
TP53_g.12711_12712ins5 commonName ins5
TP53_g.12621_12626del commonName del6
TP53_g.12522_12523ins1 commonName ins1
TP53_g.12370_12374del commonName del5
TP53_g.13397_13399del commonName del3
TP53_g.13839_13840del commonName del2
TP53_g.13820_13821ins8 commonName ins8
TP53_g.13357T>C commonName T>C
TP53_g.13357T>C protEffect p.Ser240Ser
TP53_g.13776del commonName del1
TP53_g.12636_12637ins1 commonName ins1
TP53_g.12671T>A commonName T>A
TP53_g.12671T>A protEffect p.Leu201STOP
TP53_g.12365A>C commonName A>C
TP53_g.12365A>C protEffect p.Tyr126Ser
TP53_g.11601T>A commonName T>A
TP53_g.11601T>A protEffect p.Cys124Ser
TP53_g.13378_13379delinsGT commonName CC>GT
TP53_g.13378_13379delinsGT protEffect N247K;R248W]
TP53_g.12363_12364ins1 commonName ins1
TP53_g.12515_12517delinsTTT commonName GCC>TTT
TP53_g.12515_12517delinsTTT protEffect C176F;P177S]
TP53_g.11370_11371delinsTT commonName CC>TT
TP53_g.11370_11371delinsTT protEffect p.Pro47Leu
TP53_g.12440_12441delinsTT commonName CC>TT
TP53_g.12440_12441delinsTT protEffect p.Pro151Leu
TP53_g.12517_12518delinsTT commonName CC>TT
TP53_g.12517_12518delinsTT protEffect p.Pro177Phe
TP53_g.12474_12475delinsTC commonName CT>TC
TP53_g.12474_12475delinsTC protEffect Y163H
TP53_g.11494_11495delinsTT commonName CC>TT
TP53_g.11494_11495delinsTT protEffect p.Ala88Val
TP53_g.11442C>A commonName C>A
TP53_g.11442C>A protEffect p.Pro71Thr
TP53_g.13402_13403ins2 commonName ins2
TP53_g.12724_12725del commonName del2
TP53_g.12402C>G commonName C>G
TP53_g.12402C>G protEffect p.Ala138Ala
TP53_g.12406_12408delinsGCG commonName ACC>GCG
TP53_g.12406_12408delinsGCG protEffect T140A
TP53_g.12526G>C commonName G>C
TP53_g.12526G>C protEffect p.Glu180Gln
TP53_g.12451A>T commonName A>T
TP53_g.12451A>T protEffect p.Thr155Ser
TP53_g.12438A>C commonName A>C
TP53_g.12438A>C protEffect p.Thr150Thr
TP53_g.12495G>C commonName G>C
TP53_g.12495G>C protEffect p.Met169Ile
TP53_g.12642T>A commonName T>A
TP53_g.12642T>A protEffect p.Pro191Pro
TP53_g.13888G>T commonName G>T
TP53_g.13888G>T protEffect p.Ser303Ile
TP53_g.13835G>C commonName G>C
TP53_g.13835G>C protEffect p.Glu285Asp
TP53_g.12446C>T commonName C>T
TP53_g.12446C>T protEffect p.Pro153Leu
TP53_g.13416C>G commonName C>G
TP53_g.13416C>G protEffect p.Ser260Cys
TP53_g.12421C>T commonName C>T
TP53_g.12421C>T protEffect p.Leu145Leu
TP53_g.13824del commonName del1
TP53_g.13863del commonName del1
TP53_g.13814T>C commonName T>C
TP53_g.13814T>C protEffect p.Pro278Pro
TP53_g.12529C>G commonName C>G
TP53_g.12529C>G protEffect p.Arg181Gly
TP53_g.12514_12525del commonName del12
TP53_g.12715_12720del commonName del6
TP53_g.12433_12465del commonName del33
TP53_g.13400_13405del commonName del6
TP53_g.12363del commonName del1
TP53_g.11509T>C commonName T>C
TP53_g.11509T>C protEffect p.Leu93Pro
TP53_g.11479C>T commonName C>T
TP53_g.11479C>T protEffect p.Ala83Val
TP53_g.11355G>T commonName G>T
TP53_g.11355G>T protEffect p.Asp42Tyr
TP53_g.11448G>T commonName G>T
TP53_g.11448G>T protEffect p.Val73Leu
TP53_g.12383A>C commonName A>C
TP53_g.12383A>C protEffect p.Lys132Thr
TP53_g.12646_12654delinsGCCCCT commonName CATCTTATC>GCCCCT
TP53_g.13318T>A commonName T>A
TP53_g.13318T>A protEffect p.Ser227Ser
TP53_g.13760T>A commonName T>A
TP53_g.11484del commonName del1
TP53_g.12684T>C commonName T>C
TP53_g.12684T>C protEffect p.Tyr205Tyr
TP53_g.13832A>G commonName A>G
TP53_g.13832A>G protEffect p.Thr284Thr
TP53_g.12705T>G commonName T>G
TP53_g.12705T>G protEffect p.Phe212Leu
TP53_g.13330C>A commonName C>A
TP53_g.13330C>A protEffect p.Thr231Thr
TP53_g.13896_13899del commonName del4
TP53_g.16894C>G commonName C>G
TP53_g.16894C>G protEffect p.Arg335Gly
TP53_g.13788_13789del commonName del2
TP53_g.14022A>T commonName A>T
TP53_g.14022A>T protEffect p.Gln317Leu
TP53_g.13391_13426del commonName del36
TP53_g.13319G>T commonName G>T
TP53_g.13319G>T protEffect p.Asp228Tyr
TP53_g.13328del commonName del1
TP53_g.12459C>A commonName C>A
TP53_g.12459C>A protEffect p.Val157Val
TP53_g.13325A>T commonName A>T
TP53_g.13325A>T protEffect p.Thr230Ser
TP53_g.12429T>G commonName T>G
TP53_g.12429T>G protEffect p.Val147Val
TP53_g.13791_13793delinsTAA commonName GAG>TAA
TP53_g.13791_13793delinsTAA protEffect E271X
TP53_g.12486A>C commonName A>C
TP53_g.12486A>C protEffect p.Ser166Ser
TP53_g.14006A>T commonName A>T
TP53_g.14006A>T protEffect p.Thr312Ser
TP53_g.14030A>T commonName A>T
TP53_g.14030A>T protEffect p.Lys320STOP
TP53_g.12510G>T commonName G>T
TP53_g.12510G>T protEffect p.Arg174Ser
TP53_g.12513C>T commonName C>T
TP53_g.12513C>T protEffect p.Arg175Arg
TP53_g.13378C>A commonName C>A
TP53_g.13378C>A protEffect p.Asn247Lys
TP53_g.12546T>A commonName T>A
TP53_g.12546T>A protEffect p.Asp186Glu
TP53_g.13343_13344del commonName del2
TP53_g.12535_12542del commonName del8
TP53_g.13854_13857del commonName del4
TP53_g.12718del commonName del1
TP53_g.12729T>G commonName T>G
TP53_g.12729T>G protEffect p.Tyr220STOP
TP53_g.12410G>C commonName G>C
TP53_g.12410G>C protEffect p.Cys141Ser
TP53_g.11524C>T commonName C>T
TP53_g.11524C>T protEffect p.Pro98Leu
TP53_g.11498C>T commonName C>T
TP53_g.11498C>T protEffect p.Pro89Pro
TP53_g.11570C>T commonName C>T
TP53_g.11570C>T protEffect p.Phe113Phe
TP53_g.13759G>A commonName G>A
TP53_g.12546_12547ins2 commonName ins2
TP53_g.11537C>T commonName C>T
TP53_g.11537C>T protEffect p.Thr102Thr
TP53_g.11497C>T commonName C>T
TP53_g.11497C>T protEffect p.Pro89Leu
TP53_g.11522C>T commonName C>T
TP53_g.11522C>T protEffect p.Val97Val
TP53_g.11421del commonName del1
TP53_g.11556del commonName del1
TP53_g.16919A>G commonName A>G
TP53_g.16919A>G protEffect p.Glu343Gly
TP53_g.13857_13873del commonName del17
TP53_g.14021del commonName del1
TP53_g.12679G>A commonName G>A
TP53_g.12679G>A protEffect p.Glu204Lys
TP53_g.11018C>T commonName C>T
TP53_g.11018C>T protEffect p.Gln5STOP
TP53_g.11590A>T commonName A>T
TP53_g.11590A>T protEffect p.Lys120Met
TP53_g.11599C>T commonName C>T
TP53_g.11599C>T protEffect p.Thr123Ile
TP53_g.12366C>T commonName C>T
TP53_g.12366C>T protEffect p.Tyr126Tyr
TP53_g.14032G>A commonName G>A
TP53_g.14032G>A protEffect p.Lys320Lys
TP53_g.17945G>A commonName G>A
TP53_g.17945G>A protEffect p.Arg379His
TP53_g.12560_12561del commonName del2
TP53_g.13905C>T commonName C>T
TP53_g.12623T>G commonName T>G
TP53_g.13369_13370ins10 commonName ins10
TP53_g.12514_12531del commonName del18
TP53_g.13895G>C commonName G>C
TP53_g.13895G>C protEffect p.Lys305Asn
TP53_g.13292G>C commonName G>C
TP53_g.12719T>G commonName T>G
TP53_g.12719T>G protEffect p.Val217Gly
TP53_g.12481_12483del commonName del3
TP53_g.12715_12716del commonName del2
TP53_g.13866C>A commonName C>A
TP53_g.13866C>A protEffect p.His296Asn
TP53_g.14018_14019del commonName del2
TP53_g.12681_12682ins2 commonName ins2
TP53_g.14053T>C commonName T>C
TP53_g.14053T>C protEffect p.Tyr327Tyr
TP53_g.12743T>A commonName T>A
TP53_g.12726C>A commonName C>A
TP53_g.12726C>A protEffect p.Pro219Pro
TP53_g.12643_12644del commonName del2
TP53_g.13400_13401del commonName del2
TP53_g.12378C>T commonName C>T
TP53_g.12378C>T protEffect p.Leu130Leu
TP53_g.12384_12385ins1 commonName ins1
TP53_g.12430_12432delinsTGA commonName GAT>TGA
TP53_g.12430_12432delinsTGA protEffect D148X
TP53_g.12639T>G commonName T>G
TP53_g.12639T>G protEffect p.Pro190Pro
TP53_g.14001A>C commonName A>C
TP53_g.14001A>C protEffect p.Asn310Thr
TP53_g.13322_13324delinsTA commonName TGT>TA
TP53_g.13352_13354delinsTAA commonName AAC>TAA
TP53_g.13352_13354delinsTAA protEffect N239X
TP53_g.13874_13875ins1 commonName ins1
TP53_g.13371_13372delinsAA commonName GC>AA
TP53_g.13371_13372delinsAA protEffect p.Gly245Glu
TP53_g.13392T>A commonName T>A
TP53_g.13392T>A protEffect p.Leu252His
TP53_g.14000_14001delinsTT commonName AA>TT
TP53_g.14000_14001delinsTT protEffect p.Asn310Leu
TP53_g.13355_13357delinsCCC commonName AGT>CCC
TP53_g.13355_13357delinsCCC protEffect S240P
TP53_g.14037C>G commonName C>G
TP53_g.14037C>G protEffect p.Pro322Arg
TP53_g.14039del commonName del1
TP53_g.14039_14040delinsGG commonName CT>GG
TP53_g.14039_14040delinsGG protEffect p.Leu323Gly
TP53_g.12395A>C commonName A>C
TP53_g.12395A>C protEffect p.Gln136Pro
TP53_g.13996G>C commonName G>C
TP53_g.13996G>C protEffect p.Leu308Leu
TP53_g.13368_13369delinsAA commonName GC>AA
TP53_g.13368_13369delinsAA protEffect p.Gly244Glu
TP53_g.13893_13895delinsTAA commonName AAG>TAA
TP53_g.13893_13895delinsTAA protEffect K305X
TP53_g.14040T>G commonName T>G
TP53_g.14040T>G protEffect p.Leu323Arg
TP53_g.14016C>G commonName C>G
TP53_g.14016C>G protEffect p.Ser315Cys
TP53_g.12652_12653delinsTA commonName AT>TA
TP53_g.12652_12653delinsTA protEffect p.Ile195Tyr
TP53_g.13878C>G commonName C>G
TP53_g.13878C>G protEffect p.Pro300Ala
TP53_g.12691_12728del commonName del38
TP53_g.12640_12647del commonName del8
TP53_g.12433_12511del commonName del79
TP53_g.16883A>T commonName A>T
TP53_g.12635del commonName del1
TP53_g.11540C>G commonName C>G
TP53_g.11540C>G protEffect p.Tyr103STOP
TP53_g.12381C>T commonName C>T
TP53_g.12381C>T protEffect p.Asn131Asn
TP53_g.12365A>T commonName A>T
TP53_g.12365A>T protEffect p.Tyr126Phe
TP53_g.13396C>G commonName C>G
TP53_g.13396C>G protEffect p.Thr253Thr
TP53_g.12508A>C commonName A>C
TP53_g.12508A>C protEffect p.Arg174Arg
TP53_g.13847C>G commonName C>G
TP53_g.13847C>G protEffect p.Leu289Leu
TP53_g.13809_13838del commonName del30
TP53_g.11526del commonName del1
TP53_g.11603_11604ins1 commonName ins1
TP53_g.13782A>T commonName A>T
TP53_g.13782A>T protEffect p.Asn268Tyr
TP53_g.13792A>C commonName A>C
TP53_g.13792A>C protEffect p.Glu271Ala
TP53_g.13403_13411del commonName del9
TP53_g.12409_12417del commonName del9
TP53_g.12627A>G commonName A>G
TP53_g.13376_13379del commonName del4
TP53_g.13339C>G commonName C>G
TP53_g.13339C>G protEffect p.Tyr234STOP
TP53_g.13340_13342del commonName del3
TP53_g.13331A>C commonName A>C
TP53_g.13331A>C protEffect p.Ile232Leu
TP53_g.12637C>G commonName C>G
TP53_g.12637C>G protEffect p.Pro190Ala
TP53_g.12733C>A commonName C>A
TP53_g.12733C>A protEffect p.Pro222Thr
TP53_g.12729T>A commonName T>A
TP53_g.12729T>A protEffect p.Tyr220STOP
TP53_g.13378C>G commonName C>G
TP53_g.13378C>G protEffect p.Asn247Lys
TP53_g.30018_30031del commonName del14
TP53_g.16885del commonName del1
TP53_g.11027C>T commonName C>T
TP53_g.11027C>T protEffect p.Pro8Ser
TP53_g.11048A>C commonName A>C
TP53_g.11048A>C protEffect p.Ser15Arg
TP53_g.11413A>G commonName A>G
TP53_g.11413A>G protEffect p.Asp61Gly
TP53_g.11317C>T commonName C>T
TP53_g.11534_11535ins1 commonName ins1
TP53_g.11543G>T commonName G>T
TP53_g.11543G>T protEffect p.Gln104His
TP53_g.17962T>C commonName T>C
TP53_g.17962T>C protEffect p.Phe385Leu
TP53_g.11547A>G commonName A>G
TP53_g.11547A>G protEffect p.Ser106Gly
TP53_g.16992G>A commonName G>A
TP53_g.11082G>A commonName G>A
TP53_g.13306C>T commonName C>T
TP53_g.16929G>A commonName G>A
TP53_g.16929G>A protEffect p.Glu346Glu
TP53_g.16979G>A commonName G>A
TP53_g.16979G>A protEffect p.Arg363Lys
TP53_g.16878G>A commonName G>A
TP53_g.16974G>A commonName G>A
TP53_g.16974G>A protEffect p.Gly361Gly
TP53_g.16984C>T commonName C>T
TP53_g.16984C>T protEffect p.His365Tyr
TP53_g.11035C>T commonName C>T
TP53_g.11035C>T protEffect p.Val10Val
TP53_g.16982C>T commonName C>T
TP53_g.16982C>T protEffect p.Ala364Val
TP53_g.12432T>C commonName T>C
TP53_g.12432T>C protEffect p.Asp148Asp
TP53_g.13884G>A commonName G>A
TP53_g.12444G>C commonName G>C
TP53_g.12444G>C protEffect p.Pro152Pro
TP53_g.12415G>C commonName G>C
TP53_g.12688G>C commonName G>C
TP53_g.12688G>C protEffect p.Asp207His
TP53_g.12719T>A commonName T>A
TP53_g.12719T>A protEffect p.Val217Glu
TP53_g.12466A>T commonName A>T
TP53_g.12466A>T protEffect p.Met160Leu
TP53_g.12498G>T commonName G>T
TP53_g.12498G>T protEffect p.Thr170Thr
TP53_g.12690T>C commonName T>C
TP53_g.12690T>C protEffect p.Asp207Asp
TP53_g.12417G>C commonName G>C
TP53_g.12417G>C protEffect p.Val143Val
TP53_g.12681G>A commonName G>A
TP53_g.12681G>A protEffect p.Glu204Glu
TP53_g.12382_12392del commonName del11
TP53_g.12664G>T commonName G>T
TP53_g.12664G>T protEffect p.Gly199STOP
TP53_g.16891G>T commonName G>T
TP53_g.16891G>T protEffect p.Gly334Trp
TP53_g.12375_12376ins6 commonName ins6
TP53_g.11431C>G commonName C>G
TP53_g.11431C>G protEffect p.Pro67Arg
TP53_g.12430_12432delinsGG commonName GAT>GG
TP53_g.13764_13769delinsCCTGAT commonName GGTAAT>CCTGAT
TP53_g.13764_13769delinsCCTGAT protEffect G262P;N263D]
TP53_g.13866_13890del commonName del25
TP53_g.13830_13838del commonName del9
TP53_g.13796_13797delinsAA commonName GC>AA
TP53_g.13796_13797delinsAA protEffect R273S
TP53_g.13335A>T commonName A>T
TP53_g.13335A>T protEffect p.His233Leu
TP53_g.12546T>C commonName T>C
TP53_g.12546T>C protEffect p.Asp186Asp
TP53_g.12544_12561del commonName del18
TP53_g.13365_13366delinsCA commonName TG>CA
TP53_g.13365_13366delinsCA protEffect p.Met243Thr
TP53_g.12412C>A commonName C>A
TP53_g.12412C>A protEffect p.Pro142Thr
TP53_g.12420G>T commonName G>T
TP53_g.12420G>T protEffect p.Gln144His
TP53_g.12403_12411del commonName del9
TP53_g.12514_12519del commonName del6
TP53_g.12460_12461delinsTA commonName CG>TA
TP53_g.12460_12461delinsTA protEffect p.Arg158Tyr
TP53_g.12443C>G commonName C>G
TP53_g.12443C>G protEffect p.Pro152Arg
TP53_g.16901G>A commonName G>A
TP53_g.16901G>A protEffect p.Arg337His
TP53_g.13356G>A commonName G>A
TP53_g.13356G>A protEffect p.Ser240Asn
TP53_g.11547_11612del commonName del66
TP53_g.11557T>G commonName T>G
TP53_g.11557T>G protEffect p.Phe109Cys
TP53_g.11593C>T commonName C>T
TP53_g.11593C>T protEffect p.Ser121Phe
TP53_g.12458T>C commonName T>C
TP53_g.12458T>C protEffect p.Val157Ala
TP53_g.12731A>C commonName A>C
TP53_g.12731A>C protEffect p.Glu221Ala
TP53_g.13390C>T commonName C>T
TP53_g.13390C>T protEffect p.Ile251Ile
TP53_g.13799T>A commonName T>A
TP53_g.13799T>A protEffect p.Arg273Arg
TP53_g.13866_13867delinsTG commonName CA>TG
TP53_g.13866_13867delinsTG protEffect p.His296Cys
TP53_g.13847C>A commonName C>A
TP53_g.13847C>A protEffect p.Leu289Leu
TP53_g.13883A>T commonName A>T
TP53_g.13883A>T protEffect p.Pro301Pro
TP53_g.13852A>T commonName A>T
TP53_g.13852A>T protEffect p.Lys291Met
TP53_g.13847C>T commonName C>T
TP53_g.13847C>T protEffect p.Leu289Leu
TP53_g.12704T>A commonName T>A
TP53_g.12704T>A protEffect p.Phe212Tyr
TP53_g.13385_13390del commonName del6
TP53_g.13993A>G commonName A>G
TP53_g.13993A>G protEffect p.Ala307Ala
TP53_g.12439_12444del commonName del6
TP53_g.12511del commonName del1
TP53_g.13383_13384delinsAT commonName GG>AT
TP53_g.13383_13384delinsAT protEffect p.Arg249Asn
TP53_g.11421_11481del commonName del61
TP53_g.11553del commonName del1
TP53_g.11558_11559ins14 commonName ins14
TP53_g.11600_11601ins5 commonName ins5
TP53_g.13793_13794ins2 commonName ins2
TP53_g.13848del commonName del1
TP53_g.13833_13844del commonName del12
TP53_g.16915_16926del commonName del12
TP53_g.11608T>G commonName T>G
TP53_g.12362A>C commonName A>C
TP53_g.11415_11418del commonName del4
TP53_g.12700del commonName del1
TP53_g.11513_11514ins17 commonName ins17
TP53_g.14060_14061del commonName del2
TP53_g.13806_13861del commonName del56
TP53_g.11484_11499del commonName del16
TP53_g.11486_11487ins4 commonName ins4
TP53_g.12634_12635del commonName del2
TP53_g.14015_14039del commonName del25
TP53_g.13829_13830ins1 commonName ins1
TP53_g.13429C>T commonName C>T
TP53_g.13376del commonName del1
TP53_g.30015_30037del commonName del23
TP53_g.12384G>A commonName G>A
TP53_g.12384G>A protEffect p.Lys132Lys
TP53_g.12374C>T commonName C>T
TP53_g.12374C>T protEffect p.Ala129Val
TP53_g.12699C>T commonName C>T
TP53_g.12699C>T protEffect p.Asn210Asn
TP53_g.12654C>T commonName C>T
TP53_g.12654C>T protEffect p.Ile195Ile
TP53_g.12655_12656delinsTC commonName CG>TC
TP53_g.12655_12656delinsTC protEffect p.Arg196Ser
TP53_g.12717G>A commonName G>A
TP53_g.12717G>A protEffect p.Val216Val
TP53_g.13414C>T commonName C>T
TP53_g.13414C>T protEffect p.Asp259Asp
TP53_g.13333C>T commonName C>T
TP53_g.13333C>T protEffect p.Ile232Ile
TP53_g.13406C>T commonName C>T
TP53_g.13406C>T protEffect p.Leu257Leu
TP53_g.13808C>T commonName C>T
TP53_g.13808C>T protEffect p.Ala276Ala
TP53_g.13880C>T commonName C>T
TP53_g.13880C>T protEffect p.Pro300Pro
TP53_g.12436A>G commonName A>G
TP53_g.12436A>G protEffect p.Thr150Ala
TP53_g.13334del commonName del1
TP53_g.14046G>C commonName G>C
TP53_g.14046G>C protEffect p.Gly325Ala
TP53_g.11592del commonName del1
TP53_g.13415T>C commonName T>C
TP53_g.13415T>C protEffect p.Ser260Pro
TP53_g.12418_12450del commonName del33
TP53_g.14009A>T commonName A>T
TP53_g.14009A>T protEffect p.Ser313Cys
TP53_g.12536_12562del commonName del27
TP53_g.13825_13826delinsAT commonName GG>AT
TP53_g.13825_13826delinsAT protEffect p.Arg282His
TP53_g.12360A>G commonName A>G
TP53_g.12712_12721del commonName del10
TP53_g.12709del commonName del1
TP53_g.12679_12680del commonName del2
TP53_g.12480_12481delinsAT commonName GC>AT
TP53_g.12480_12481delinsAT protEffect Q165X
TP53_g.16895G>A commonName G>A
TP53_g.16895G>A protEffect p.Arg335His
TP53_g.11366_11367ins16 commonName ins16
TP53_g.12523_12540del commonName del18
TP53_g.13892_13893ins23 commonName ins23
TP53_g.16912del commonName del1
TP53_g.12463_12464del commonName del2
TP53_g.13800_13801del commonName del2
TP53_g.13390_13391ins3 commonName ins3
TP53_g.11332C>T commonName C>T
TP53_g.11332C>T protEffect p.Pro34Leu
TP53_g.11460_11461del commonName del2
TP53_g.11488C>T commonName C>T
TP53_g.11488C>T protEffect p.Ala86Val
TP53_g.11567C>T commonName C>T
TP53_g.11567C>T protEffect p.Gly112Gly
TP53_g.12403_12404del commonName del2
TP53_g.12457_12464del commonName del8
TP53_g.12549T>A commonName T>A
TP53_g.12661_12671del commonName del11
TP53_g.13388_13389del commonName del2
TP53_g.13872_13883del commonName del12
TP53_g.14029_14030ins4 commonName ins4
TP53_g.11328del commonName del1
TP53_g.11352del commonName del1
TP53_g.11469_11475del commonName del7
TP53_g.11517_11518del commonName del2
TP53_g.12688_12695del commonName del8
TP53_g.12712_12715del commonName del4
TP53_g.12739del commonName del1
TP53_g.13390_13391ins1 commonName ins1
TP53_g.13415_13417del commonName del3
TP53_g.13806_13821del commonName del16
TP53_g.13848_13863del commonName del16
TP53_g.13878_13881del commonName del4
TP53_g.12386T>G commonName T>G
TP53_g.12386T>G protEffect p.Met133Arg
TP53_g.13844T>A commonName T>A
TP53_g.13844T>A protEffect p.Asn288Lys
TP53_g.12457_12462del commonName del6
TP53_g.12690T>A commonName T>A
TP53_g.12690T>A protEffect p.Asp207Glu
TP53_g.12447_12448ins3 commonName ins3
TP53_g.12483_12484ins9 commonName ins9
TP53_g.11605C>A commonName C>A
TP53_g.11605C>A protEffect p.Thr125Lys
TP53_g.11417A>G commonName A>G
TP53_g.11417A>G protEffect p.Glu62Glu
TP53_g.11393C>T commonName C>T
TP53_g.11393C>T protEffect p.Phe54Phe
TP53_g.11482C>G commonName C>G
TP53_g.11482C>G protEffect p.Ala84Gly
TP53_g.13314G>C commonName G>C
TP53_g.13314G>C protEffect p.Gly226Ala
TP53_g.14027A>G commonName A>G
TP53_g.14027A>G protEffect p.Lys319Glu
TP53_g.12730del commonName del1
TP53_g.12393_12394ins3 commonName ins3
TP53_g.13771T>C commonName T>C
TP53_g.13771T>C protEffect p.Leu264Pro
TP53_g.13791_13792delinsCC commonName GA>CC
TP53_g.13791_13792delinsCC protEffect p.Glu271Pro
TP53_g.13986_13987ins1 commonName ins1
TP53_g.11559C>A commonName C>A
TP53_g.11559C>A protEffect p.Arg110Ser
TP53_g.13815_13816del commonName del2
TP53_g.13874_13875ins10 commonName ins10
TP53_g.13372_13373ins1 commonName ins1
TP53_g.30014del commonName del1
TP53_g.30016_30017ins1 commonName ins1
TP53_g.12370C>G commonName C>G
TP53_g.12370C>G protEffect p.Pro128Ala
TP53_g.30018del commonName del1
TP53_g.30015del commonName del1
TP53_g.13310G>T commonName G>T
TP53_g.13310G>T protEffect p.Val225Phe
TP53_g.13418_13426del commonName del9
TP53_g.13376_13387del commonName del12
TP53_g.14037C>T commonName C>T
TP53_g.14037C>T protEffect p.Pro322Leu
TP53_g.11611G>A commonName G>A
TP53_g.11327G>A commonName G>A
TP53_g.14030_14032del commonName del3
TP53_g.13333_13334ins11 commonName ins11
TP53_g.12733del commonName del1
TP53_g.12487_12496del commonName del10
TP53_g.12664_12694del commonName del31
TP53_g.13325_13334del commonName del10
TP53_g.13866_13887del commonName del22
TP53_g.13887_13889delinsGT commonName AGC>GT
TP53_g.12403A>T commonName A>T
TP53_g.12403A>T protEffect p.Lys139STOP
TP53_g.16906_16926del commonName del21
TP53_g.16901G>C commonName G>C
TP53_g.16901G>C protEffect p.Arg337Pro
TP53_g.13894A>T commonName A>T
TP53_g.13894A>T protEffect p.Lys305Met
TP53_g.13812_13813del commonName del2
TP53_g.12547_12563del commonName del17
TP53_g.11459A>T commonName A>T
TP53_g.11459A>T protEffect p.Ala76Ala
TP53_g.11517T>C commonName T>C
TP53_g.11517T>C protEffect p.Ser96Pro
TP53_g.13994C>A commonName C>A
TP53_g.13994C>A protEffect p.Leu308Met
TP53_g.16903T>A commonName T>A
TP53_g.16903T>A protEffect p.Phe338Ile
TP53_g.12738_12739ins6 commonName ins6
TP53_g.13313_13314del commonName del2
TP53_g.12366_12370delinsA commonName CTCCC>A
TP53_g.13366_13367ins9 commonName ins9
TP53_g.13790_13791ins6 commonName ins6
TP53_g.12445del commonName del1
TP53_g.13818_13820del commonName del3
TP53_g.12401_12402delinsTA commonName CC>TA
TP53_g.12401_12402delinsTA protEffect p.Ala138Val
TP53_g.12454_12456del commonName del3
TP53_g.13322_13328del commonName del7
TP53_g.13878_13879del commonName del2
TP53_g.12423G>A commonName G>A
TP53_g.12423G>A protEffect p.Leu145Leu
TP53_g.12521A>G commonName A>G
TP53_g.12521A>G protEffect p.His178Arg
TP53_g.12382_12402del commonName del21
TP53_g.12431A>T commonName A>T
TP53_g.12431A>T protEffect p.Asp148Val
TP53_g.13325del commonName del1
TP53_g.11566G>A commonName G>A
TP53_g.11566G>A protEffect p.Gly112Asp
TP53_g.12550G>A commonName G>A
TP53_g.12687G>A commonName G>A
TP53_g.12687G>A protEffect p.Leu206Leu
TP53_g.12441C>A commonName C>A
TP53_g.12441C>A protEffect p.Pro151Pro
TP53_g.12541A>T commonName A>T
TP53_g.12541A>T protEffect p.Ser185Cys
TP53_g.12543_12544ins1 commonName ins1
TP53_g.12538_12539ins1 commonName ins1
TP53_g.12628_12629ins1 commonName ins1
TP53_g.13339C>T commonName C>T
TP53_g.13339C>T protEffect p.Tyr234Tyr
TP53_g.13339_13340ins1 commonName ins1
TP53_g.13773C>A commonName C>A
TP53_g.13773C>A protEffect p.Leu265Met
TP53_g.17940_17941ins2 commonName ins2
TP53_g.12657_12658ins2 commonName ins2
TP53_g.13349_13350delinsCA commonName TG>CA
TP53_g.13349_13350delinsCA protEffect p.Cys238His
TP53_g.12426G>C commonName G>C
TP53_g.12426G>C protEffect p.Trp146Cys
TP53_g.12519_12520delinsAT commonName CC>AT
TP53_g.12519_12520delinsAT protEffect H178Y
TP53_g.13322_13323delinsAA commonName TG>AA
TP53_g.13322_13323delinsAA protEffect p.Cys229Asn
TP53_g.17917A>C commonName A>C
TP53_g.17917A>C protEffect p.Lys370Gln
TP53_g.12434_12435delinsTT commonName CC>TT
TP53_g.12434_12435delinsTT protEffect p.Ser149Phe
TP53_g.13781_13782ins13 commonName ins13
TP53_g.12495_12496ins2 commonName ins2
TP53_g.30005_30006del commonName del2
TP53_g.12702_12703ins3 commonName ins3
TP53_g.12479A>C commonName A>C
TP53_g.12479A>C protEffect p.Lys164Thr
TP53_g.11411A>T commonName A>T
TP53_g.11411A>T protEffect p.Pro60Pro
TP53_g.11508C>A commonName C>A
TP53_g.11508C>A protEffect p.Leu93Met
TP53_g.14029G>T commonName G>T
TP53_g.14029G>T protEffect p.Lys319Asn
TP53_g.12446C>A commonName C>A
TP53_g.12446C>A protEffect p.Pro153His
TP53_g.11560del commonName del1
TP53_g.12424T>G commonName T>G
TP53_g.12424T>G protEffect p.Trp146Gly
TP53_g.11449T>A commonName T>A
TP53_g.11449T>A protEffect p.Val73Glu
TP53_g.12483G>T commonName G>T
TP53_g.12483G>T protEffect p.Gln165His
TP53_g.14010G>A commonName G>A
TP53_g.14010G>A protEffect p.Ser313Asn
TP53_g.30003del commonName del1
TP53_g.12394_12405del commonName del12
TP53_g.13882C>A commonName C>A
TP53_g.13882C>A protEffect p.Pro301Gln
TP53_g.13313_13314delinsAA commonName GG>AA
TP53_g.13313_13314delinsAA protEffect p.Gly226Asn
TP53_g.13880_13881delinsTT commonName CC>TT
TP53_g.13880_13881delinsTT protEffect P301S
TP53_g.13357_13358delinsCC commonName TT>CC
TP53_g.13357_13358delinsCC protEffect S241P
TP53_g.13853G>T commonName G>T
TP53_g.13853G>T protEffect p.Lys291Asn
TP53_g.12607A>G commonName A>G
TP53_g.13793_13794ins1 commonName ins1
TP53_g.13790_13791ins1 commonName ins1
TP53_g.11406_11407delinsAA commonName GG>AA
TP53_g.11406_11407delinsAA protEffect p.Gly59Asn
TP53_g.12519_12520delinsTT commonName CC>TT
TP53_g.12519_12520delinsTT protEffect H178Y
TP53_g.12518_12519delinsAT commonName CC>AT
TP53_g.12518_12519delinsAT protEffect p.Pro177His
TP53_g.13419_13420delinsAA commonName GG>AA
TP53_g.13419_13420delinsAA protEffect p.Ser261Asn
TP53_g.13370_13371delinsTT commonName GG>TT
TP53_g.13370_13371delinsTT protEffect p.Gly245Phe
TP53_g.30002_30025del commonName del24
TP53_g.12493_12494ins1 commonName ins1
TP53_g.13364A>C commonName A>C
TP53_g.13364A>C protEffect p.Met243Leu
TP53_g.16934T>A commonName T>A
TP53_g.16934T>A protEffect p.Leu348STOP
TP53_g.13869C>G commonName C>G
TP53_g.13869C>G protEffect p.His297Asp
TP53_g.12394_12409del commonName del16
TP53_g.12432_12433ins1 commonName ins1
TP53_g.12711_12712del commonName del2
TP53_g.13318_13319ins1 commonName ins1
TP53_g.14054_14059del commonName del6
TP53_g.16904_16905ins18 commonName ins18
TP53_g.13369_13370ins1 commonName ins1
TP53_g.12480G>C commonName G>C
TP53_g.12480G>C protEffect p.Lys164Asn
TP53_g.11340T>C commonName T>C
TP53_g.11340T>C protEffect p.Ser37Pro
TP53_g.13340A>C commonName A>C
TP53_g.13340A>C protEffect p.Asn235His
TP53_g.12441C>G commonName C>G
TP53_g.12441C>G protEffect p.Pro151Pro
TP53_g.13817G>T commonName G>T
TP53_g.13817G>T protEffect p.Gly279Gly
TP53_g.12404_12405ins1 commonName ins1
TP53_g.12758G>C commonName G>C
TP53_g.13329C>A commonName C>A
TP53_g.13329C>A protEffect p.Thr231Asn
TP53_g.13776_13793del commonName del18
TP53_g.12392_12393ins1 commonName ins1
TP53_g.11447_11448ins1 commonName ins1
TP53_g.13315C>A commonName C>A
TP53_g.13315C>A protEffect p.Gly226Gly
TP53_g.13886G>C commonName G>C
TP53_g.13886G>C protEffect p.Gly302Gly
TP53_g.12678G>C commonName G>C
TP53_g.12678G>C protEffect p.Val203Val
TP53_g.12402C>A commonName C>A
TP53_g.12402C>A protEffect p.Ala138Ala
TP53_g.14006del commonName del1
TP53_g.12450_12451ins1 commonName ins1
TP53_g.12472_12474delinsGTT commonName ATC>GTT
TP53_g.12472_12474delinsGTT protEffect I162V
TP53_g.12377T>C commonName T>C
TP53_g.12377T>C protEffect p.Leu130Pro
TP53_g.13377_13378delinsTA commonName AC>TA
TP53_g.13377_13378delinsTA protEffect p.Asn247Ile
TP53_g.30002_30027del commonName del26
TP53_g.11457G>A commonName G>A
TP53_g.11457G>A protEffect p.Ala76Thr
TP53_g.12385A>G commonName A>G
TP53_g.12385A>G protEffect p.Met133Val
TP53_g.11453C>T commonName C>T
TP53_g.11453C>T protEffect p.Ala74Ala
TP53_g.13354C>T commonName C>T
TP53_g.13354C>T protEffect p.Asn239Asn
TP53_g.12775G>A commonName G>A
TP53_g.13424G>A commonName G>A
TP53_g.11382_11385del commonName del4
TP53_g.13882_13886del commonName del5
TP53_g.11458C>G commonName C>G
TP53_g.11458C>G protEffect p.Ala76Gly
TP53_g.13382A>C commonName A>C
TP53_g.13382A>C protEffect p.Arg249Arg
TP53_g.11589_11718del commonName del130
TP53_g.11444C>T commonName C>T
TP53_g.11444C>T protEffect p.Pro71Pro
TP53_g.11444_11445ins1 commonName ins1
TP53_g.11525T>A commonName T>A
TP53_g.11525T>A protEffect p.Pro98Pro
TP53_g.12433_12434del commonName del2
TP53_g.13866del commonName del1
TP53_g.13421T>G commonName T>G
TP53_g.12536C>A commonName C>A
TP53_g.12536C>A protEffect p.Ser183STOP
TP53_g.12448G>T commonName G>T
TP53_g.12448G>T protEffect p.Gly154Cys
TP53_g.12541A>G commonName A>G
TP53_g.12541A>G protEffect p.Ser185Gly
TP53_g.12661_12662ins1 commonName ins1
TP53_g.12691G>C commonName G>C
TP53_g.12691G>C protEffect p.Asp208His
TP53_g.14064A>C commonName A>C
TP53_g.14064A>C protEffect p.Gln331Pro
TP53_g.14030_14031ins2 commonName ins2
TP53_g.14064_14065delinsCA commonName AG>CA
TP53_g.14064_14065delinsCA protEffect p.Gln331Pro
TP53_g.12435_12436ins8 commonName ins8
TP53_g.12444_12445ins8 commonName ins8
TP53_g.12460_12472del commonName del13
TP53_g.12499_12504del commonName del6
TP53_g.13309_13310ins6 commonName ins6
TP53_g.13360_13361ins3 commonName ins3
TP53_g.13411_13412ins1 commonName ins1
TP53_g.13775_13776ins10 commonName ins10
TP53_g.13824_13841del commonName del18
TP53_g.13827_13846del commonName del20
TP53_g.12430_12432del commonName del3
TP53_g.12457_12474del commonName del18
TP53_g.12475_12493del commonName del19
TP53_g.12487_12491del commonName del5
TP53_g.13345_13346ins6 commonName ins6
TP53_g.13351_13352ins4 commonName ins4
TP53_g.13818_13823del commonName del6
TP53_g.13827_13845del commonName del19
TP53_g.14045G>T commonName G>T
TP53_g.14045G>T protEffect p.Gly325STOP
TP53_g.14039_14056del commonName del18
TP53_g.12726C>T commonName C>T
TP53_g.12726C>T protEffect p.Pro219Pro
TP53_g.12540_12541ins2 commonName ins2
TP53_g.11384_11385ins3 commonName ins3
TP53_g.12413C>A commonName C>A
TP53_g.12413C>A protEffect p.Pro142His
TP53_g.12477_12489del commonName del13
TP53_g.13350_13356del commonName del7
TP53_g.11530A>G commonName A>G
TP53_g.11530A>G protEffect p.Gln100Arg
TP53_g.12406_12419del commonName del14
TP53_g.12515_12516del commonName del2
TP53_g.12631_12658del commonName del28
TP53_g.13339_13340ins9 commonName ins9
TP53_g.13385_13386del commonName del2
TP53_g.13766_13767ins9 commonName ins9
TP53_g.13796_13797ins25 commonName ins25
TP53_g.14061T>G commonName T>G
TP53_g.14061T>G protEffect p.Leu330Arg
TP53_g.12517_12535del commonName del19
TP53_g.12542G>A commonName G>A
TP53_g.12542G>A protEffect p.Ser185Asn
TP53_g.12489_12490delinsTG commonName GC>TG
TP53_g.12489_12490delinsTG protEffect Q167H;H168D]
TP53_g.12521A>T commonName A>T
TP53_g.12521A>T protEffect p.His178Leu
TP53_g.12396A>C commonName A>C
TP53_g.12396A>C protEffect p.Gln136His
TP53_g.12648_12649ins1 commonName ins1
TP53_g.12469_12470delinsTT commonName GC>TT
TP53_g.12469_12470delinsTT protEffect p.Ala161Phe
TP53_g.13357_13358ins1 commonName ins1
TP53_g.13403A>C commonName A>C
TP53_g.13403A>C protEffect p.Thr256Pro
TP53_g.14052_14053del commonName del2
TP53_g.13873A>T commonName A>T
TP53_g.13873A>T protEffect p.Glu298Val
TP53_g.11419del commonName del1
TP53_g.13842_13846del commonName del5
TP53_g.13872_13876del commonName del5
TP53_g.12459_12460del commonName del2
TP53_g.13416_13417ins1 commonName ins1
TP53_g.11466_11495del commonName del30
TP53_g.12388_12389ins1 commonName ins1
TP53_g.12474C>A commonName C>A
TP53_g.12474C>A protEffect p.Ile162Ile
TP53_g.12350_12372del commonName del23
TP53_g.13274del commonName del1
TP53_g.12730G>C commonName G>C
TP53_g.12730G>C protEffect p.Glu221Gln
TP53_g.12660G>T commonName G>T
TP53_g.12660G>T protEffect p.Val197Val
TP53_g.12633G>A commonName G>A
TP53_g.12633G>A protEffect p.Leu188Leu
TP53_g.12682_12683ins1 commonName ins1
TP53_g.11568_11586del commonName del19
TP53_g.12415_12421del commonName del7
TP53_g.12431_12432del commonName del2
TP53_g.12452_12466del commonName del15
TP53_g.12460_12461delinsTT commonName CG>TT
TP53_g.12460_12461delinsTT protEffect p.Arg158Phe
TP53_g.12498_12505del commonName del8
TP53_g.13412_13452del commonName del41
TP53_g.12689A>T commonName A>T
TP53_g.12689A>T protEffect p.Asp207Val
TP53_g.12700_12701del commonName del2
TP53_g.13352_13354del commonName del3
TP53_g.13352_13354del protEffect N239del
TP53_g.13371_13372del commonName del2
TP53_g.13777_13778ins1 commonName ins1
TP53_g.13832del commonName del1
TP53_g.13834_13835ins48 commonName ins48
TP53_g.13848_13849ins33 commonName ins33
TP53_g.13861del commonName del1
TP53_g.13337_13339delinsAAA commonName TAC>AAA
TP53_g.13337_13339delinsAAA protEffect Y234K
TP53_g.12767G>A commonName G>A
TP53_g.14019C>T commonName C>T
TP53_g.14019C>T protEffect p.Pro316Leu
TP53_g.13901T>G commonName T>G
TP53_g.12742G>C commonName G>C
TP53_g.13909C>T commonName C>T
TP53_g.12758G>T commonName G>T
TP53_g.13971C>T commonName C>T
TP53_g.12781G>T commonName G>T
TP53_g.12773G>T commonName G>T
TP53_g.12457_12459del commonName del3
TP53_g.13914C>T commonName C>T
TP53_g.12766_12767delinsAA commonName GG>AA
TP53_g.12522C>A commonName C>A
TP53_g.12522C>A protEffect p.His178Gln
TP53_g.12766G>A commonName G>A
TP53_g.13828_13857del commonName del30
TP53_g.12520_12522del commonName del3
TP53_g.12429_12430ins4 commonName ins4
TP53_g.13781del commonName del1
TP53_g.13774T>G commonName T>G
TP53_g.13774T>G protEffect p.Leu265Arg
TP53_g.12521_12522ins1 commonName ins1
TP53_g.13847_13854del commonName del8
TP53_g.12368_12389del commonName del22
TP53_g.13325A>C commonName A>C
TP53_g.13325A>C protEffect p.Thr230Pro
TP53_g.13352_13364del commonName del13
TP53_g.13817G>A commonName G>A
TP53_g.13817G>A protEffect p.Gly279Gly
TP53_g.11343C>T commonName C>T
TP53_g.11343C>T protEffect p.Gln38STOP
TP53_g.12718_12762del commonName del45
TP53_g.12385_12392del commonName del8
TP53_g.11454C>T commonName C>T
TP53_g.11454C>T protEffect p.Pro75Ser
TP53_g.11575del commonName del1
TP53_g.11393_11394ins22 commonName ins22
TP53_g.12540_12545del commonName del6
TP53_g.12361_12362ins1 commonName ins1
TP53_g.12392_12393ins4 commonName ins4
TP53_g.11548del commonName del1
TP53_g.11436_11437del commonName del2
TP53_g.13874del commonName del1
TP53_g.12529_12530ins18 commonName ins18
TP53_g.13787_13788ins3 commonName ins3
TP53_g.12390_12407del commonName del18
TP53_g.12479_12482del commonName del4
TP53_g.12510_12521del commonName del12
TP53_g.13826G>C commonName G>C
TP53_g.13826G>C protEffect p.Arg282Arg
TP53_g.12468_12469delinsTT commonName GG>TT
TP53_g.12468_12469delinsTT protEffect M160I;A161S]
TP53_g.13381_13382del commonName del2
TP53_g.12700_12724del commonName del25
TP53_g.11569_11571del commonName del3
TP53_g.13898_13899ins74 commonName ins74
TP53_g.12417_12418delinsTT commonName GC>TT
TP53_g.12417_12418delinsTT protEffect Q144X
TP53_g.12439_12440ins1 commonName ins1
TP53_g.13313_13321del commonName del9
TP53_g.11512C>A commonName C>A
TP53_g.11512C>A protEffect p.Ser94STOP
TP53_g.16913del commonName del1
TP53_g.12457_12469del commonName del13
TP53_g.12664_12682del commonName del19
TP53_g.13819_13820del commonName del2
TP53_g.14008del commonName del1
TP53_g.11540_11541delinsAT commonName CC>AT
TP53_g.11540_11541delinsAT protEffect Y103X
TP53_g.12469_12470del commonName del2
TP53_g.12501G>T commonName G>T
TP53_g.12501G>T protEffect p.Glu171Asp
TP53_g.12384del commonName del1
TP53_g.13366_13367delinsTT commonName GG>TT
TP53_g.13366_13367delinsTT protEffect M243I;G244C]
TP53_g.13815_13836del commonName del22
TP53_g.13376_13384del commonName del9
TP53_g.13360_13361ins8 commonName ins8
TP53_g.13862_13865delinsACC commonName GCCT>ACC
TP53_g.13861A>T commonName A>T
TP53_g.13861A>T protEffect p.Glu294Val
TP53_g.13891C>A commonName C>A
TP53_g.13891C>A protEffect p.Thr304Asn
TP53_g.13871_13872ins1 commonName ins1
TP53_g.13993_13994ins1 commonName ins1
TP53_g.13414_13415ins1 commonName ins1
TP53_g.12514_12515ins1 commonName ins1
TP53_g.12647_12648ins1 commonName ins1
TP53_g.11597_11608del commonName del12
TP53_g.13347_13348delinsCC commonName TG>CC
TP53_g.13347_13348delinsCC protEffect p.Met237Thr
TP53_g.12639T>C commonName T>C
TP53_g.12639T>C protEffect p.Pro190Pro
TP53_g.12645_12646delinsTT commonName GC>TT
TP53_g.12645_12646delinsTT protEffect Q192H;H193Y]
TP53_g.12430_12432delinsTAG commonName GAT>TAG
TP53_g.12430_12432delinsTAG protEffect D148X
TP53_g.12443del commonName del1
TP53_g.13379_13380delinsTT commonName CG>TT
TP53_g.13379_13380delinsTT protEffect p.Arg248Leu
TP53_g.13813del commonName del1
TP53_g.13836_13837del commonName del2
TP53_g.13825_13826delinsTC commonName GG>TC
TP53_g.13825_13826delinsTC protEffect p.Arg282Leu
TP53_g.13844T>C commonName T>C
TP53_g.13844T>C protEffect p.Asn288Asn
TP53_g.13858_13859delinsCC commonName GG>CC
TP53_g.13858_13859delinsCC protEffect p.Gly293Ala
TP53_g.13868C>G commonName C>G
TP53_g.13868C>G protEffect p.His296Gln
TP53_g.13822del commonName del1
TP53_g.13413_13414delinsGT commonName AC>GT
TP53_g.13413_13414delinsGT protEffect p.Asp259Gly
TP53_g.12527A>T commonName A>T
TP53_g.12527A>T protEffect p.Glu180Val
TP53_g.13319_13320delinsCC commonName GA>CC
TP53_g.13319_13320delinsCC protEffect p.Asp228Pro
TP53_g.13844_13845delinsCT commonName TC>CT
TP53_g.13844_13845delinsCT protEffect L289F
TP53_g.13391C>G commonName C>G
TP53_g.13391C>G protEffect p.Leu252Val
TP53_g.13836_13837delinsTT commonName GA>TT
TP53_g.13836_13837delinsTT protEffect p.Glu286Leu
TP53_g.13317C>G commonName C>G
TP53_g.13317C>G protEffect p.Ser227Cys
TP53_g.13348del commonName del1
TP53_g.12445C>G commonName C>G
TP53_g.12445C>G protEffect p.Pro153Ala
TP53_g.13383_13384delinsCC commonName GG>CC
TP53_g.13383_13384delinsCC protEffect p.Arg249Thr
TP53_g.12426del commonName del1
TP53_g.12464C>G commonName C>G
TP53_g.12464C>G protEffect p.Ala159Gly
TP53_g.12644_12645delinsCC commonName AG>CC
TP53_g.12644_12645delinsCC protEffect p.Gln192Pro
TP53_g.12693C>T commonName C>T
TP53_g.12693C>T protEffect p.Asp208Asp
TP53_g.13419G>T commonName G>T
TP53_g.13419G>T protEffect p.Ser261Ile
TP53_g.12382A>T commonName A>T
TP53_g.12382A>T protEffect p.Lys132STOP
TP53_g.12709_12716del commonName del8
TP53_g.12455del commonName del1
TP53_g.13320A>T commonName A>T
TP53_g.13320A>T protEffect p.Asp228Val
TP53_g.16885A>G commonName A>G
TP53_g.16885A>G protEffect p.Ile332Val
TP53_g.11417A>C commonName A>C
TP53_g.11417A>C protEffect p.Glu62Asp
TP53_g.11412G>A commonName G>A
TP53_g.11412G>A protEffect p.Asp61Asn
TP53_g.12489G>C commonName G>C
TP53_g.12489G>C protEffect p.Gln167His
TP53_g.12638C>A commonName C>A
TP53_g.12638C>A protEffect p.Pro190His
TP53_g.11418G>A commonName G>A
TP53_g.11418G>A protEffect p.Ala63Thr
TP53_g.11512C>G commonName C>G
TP53_g.11512C>G protEffect p.Ser94STOP
TP53_g.14066_14067delinsAC commonName GT>AC
TP53_g.12380_12382del commonName del3
TP53_g.12518_12527del commonName del10
TP53_g.12433_12434ins1 commonName ins1
TP53_g.14043_14044del commonName del2
TP53_g.16917_16918ins18 commonName ins18
TP53_g.13832_13846del commonName del15
TP53_g.13996_14000del commonName del5
TP53_g.12436A>C commonName A>C
TP53_g.12436A>C protEffect p.Thr150Pro
TP53_g.13369_13370delinsAT commonName CG>AT
TP53_g.13369_13370delinsAT protEffect G245C
TP53_g.13991G>C commonName G>C
TP53_g.13831_13832del commonName del2
TP53_g.13777_13778del commonName del2
TP53_g.13409_13410ins3 commonName ins3
TP53_g.14021C>A commonName C>A
TP53_g.14021C>A protEffect p.Gln317Lys
TP53_g.13766_13767delinsAC commonName TA>AC
TP53_g.13766_13767delinsAC protEffect N263H
TP53_g.13768A>T commonName A>T
TP53_g.13768A>T protEffect p.Asn263Ile
TP53_g.13853_13854del commonName del2
TP53_g.13370_13377del commonName del8
TP53_g.11518C>G commonName C>G
TP53_g.11518C>G protEffect p.Ser96Cys
TP53_g.13377_13382del commonName del6
TP53_g.12499G>C commonName G>C
TP53_g.12499G>C protEffect p.Glu171Gln
TP53_g.12689_12690ins1 commonName ins1
TP53_g.12692_12718del commonName del27
TP53_g.11607G>C commonName G>C
TP53_g.13772_13773ins2 commonName ins2
TP53_g.13806_13807ins2 commonName ins2
TP53_g.13387_13388ins18 commonName ins18
TP53_g.12642_12643ins40 commonName ins40
TP53_g.12362del commonName del1
TP53_g.13764_13769del commonName del6
TP53_g.12449G>C commonName G>C
TP53_g.12449G>C protEffect p.Gly154Ala
TP53_g.13801_13806del commonName del6
TP53_g.12652_12653ins1 commonName ins1
TP53_g.12364T>C commonName T>C
TP53_g.12364T>C protEffect p.Tyr126His
TP53_g.13352_13353ins1 commonName ins1
TP53_g.11340del commonName del1
TP53_g.13798_13799ins1 commonName ins1
TP53_g.12371C>G commonName C>G
TP53_g.12371C>G protEffect p.Pro128Arg
TP53_g.12547_12548delinsAA commonName GG>AA
TP53_g.12547_12548delinsAA protEffect p.Gly187Asn
TP53_g.11469C>T commonName C>T
TP53_g.11469C>T protEffect p.Pro80Ser
TP53_g.12738_12777del commonName del40
TP53_g.13864C>G commonName C>G
TP53_g.13864C>G protEffect p.Pro295Arg
TP53_g.12374_12377del commonName del4
TP53_g.12432del commonName del1
TP53_g.12510_12511del commonName del2
TP53_g.12699_12700del commonName del2
TP53_g.13359_13361del commonName del3
TP53_g.13386del commonName del1
TP53_g.13407_13408del commonName del2
TP53_g.13777_13794del commonName del18
TP53_g.13859del commonName del1
TP53_g.12612_12623del commonName del12
TP53_g.12475T>G commonName T>G
TP53_g.12475T>G protEffect p.Tyr163Asp
TP53_g.13334C>G commonName C>G
TP53_g.13334C>G protEffect p.His233Asp
TP53_g.12676_12677delinsTG commonName GT>TG
TP53_g.12676_12677delinsTG protEffect p.Val203Trp
TP53_g.12418_12431del commonName del14
TP53_g.11605C>G commonName C>G
TP53_g.11605C>G protEffect p.Thr125Arg
TP53_g.11478_11481del commonName del4
TP53_g.11538_11553del commonName del16
TP53_g.13411del commonName del1
TP53_g.12510_12511ins1 commonName ins1
TP53_g.13339_13340ins3 commonName ins3
TP53_g.11451G>A commonName G>A
TP53_g.11451G>A protEffect p.Ala74Thr
TP53_g.12651T>A commonName T>A
TP53_g.12651T>A protEffect p.Leu194Leu
TP53_g.13383_13384del commonName del2
TP53_g.12699del commonName del1
TP53_g.13816G>T commonName G>T
TP53_g.13816G>T protEffect p.Gly279Val
TP53_g.13868_13869delinsTT commonName CC>TT
TP53_g.13868_13869delinsTT protEffect H297Y
TP53_g.13870del commonName del1
TP53_g.11523C>T commonName C>T
TP53_g.11523C>T protEffect p.Pro98Ser
TP53_g.12689_12696del commonName del8
TP53_g.13854del commonName del1
TP53_g.13831C>T commonName C>T
TP53_g.13831C>T protEffect p.Thr284Ile
TP53_g.12367_12370del commonName del4
TP53_g.12469_12475del commonName del7
TP53_g.11369C>T commonName C>T
TP53_g.11369C>T protEffect p.Ser46Ser
TP53_g.11437del commonName del1
TP53_g.11597G>A commonName G>A
TP53_g.11597G>A protEffect p.Val122Val
TP53_g.12396del commonName del1
TP53_g.11378_11379del commonName del2
TP53_g.11608T>A commonName T>A
TP53_g.13354_13355ins3 commonName ins3
TP53_g.13384_13385delinsTT commonName GC>TT
TP53_g.13384_13385delinsTT protEffect R249S;P250S]
TP53_g.13398_13405del commonName del8
TP53_g.13882_13883ins1 commonName ins1
TP53_g.14005del commonName del1
TP53_g.14031del commonName del1
TP53_g.14043del commonName del1
TP53_g.12478_12481del commonName del4
TP53_g.13340_13345del commonName del6
TP53_g.13806_13809del commonName del4
TP53_g.13846T>G commonName T>G
TP53_g.13846T>G protEffect p.Leu289Arg
TP53_g.11504_11505del commonName del2
TP53_g.13343_13344ins1 commonName ins1
TP53_g.11565_11566del commonName del2
TP53_g.12499_12524del commonName del26
TP53_g.12679del commonName del1
TP53_g.13791_13792del commonName del2
TP53_g.13785A>C commonName A>C
TP53_g.13785A>C protEffect p.Ser269Arg
TP53_g.11579_11580ins1 commonName ins1
TP53_g.12484_12485delinsGG commonName TC>GG
TP53_g.12484_12485delinsGG protEffect p.Ser166Gly
TP53_g.13897G>A commonName G>A
TP53_g.13897G>A protEffect p.Arg306Gln
TP53_g.14040_14042del commonName del3
TP53_g.14045_14050del commonName del6
TP53_g.12675_12676ins8 commonName ins8
TP53_g.13783A>T commonName A>T
TP53_g.13783A>T protEffect p.Asn268Ile
TP53_g.12492C>G commonName C>G
TP53_g.12492C>G protEffect p.His168Gln
TP53_g.12715_12729del commonName del15
TP53_g.11367_11378del commonName del12
TP53_g.11359T>A commonName T>A
TP53_g.11359T>A protEffect p.Leu43STOP
TP53_g.11599C>A commonName C>A
TP53_g.11599C>A protEffect p.Thr123Asn
TP53_g.13409del commonName del1
TP53_g.12721_12729del commonName del9
TP53_g.12406_12410del commonName del5
TP53_g.14024del commonName del1
TP53_g.13834A>C commonName A>C
TP53_g.13834A>C protEffect p.Glu285Ala
TP53_g.16896_16897ins4 commonName ins4
TP53_g.13417_13418ins200 commonName ins200
TP53_g.13899_13917del commonName del19
TP53_g.12724_12725delinsTG commonName CC>TG
TP53_g.12724_12725delinsTG protEffect p.Pro219Cys
TP53_g.13310_13318del commonName del9
TP53_g.12376_12378del commonName del3
TP53_g.13349_13375del commonName del27
TP53_g.13348_13349ins3 commonName ins3
TP53_g.13381_13382ins13 commonName ins13
TP53_g.13367_13368del commonName del2
TP53_g.11440_11441ins2 commonName ins2
TP53_g.13376_13392del commonName del17
TP53_g.13339_13340ins6 commonName ins6
TP53_g.12364_12371del commonName del8
TP53_g.12377T>A commonName T>A
TP53_g.12377T>A protEffect p.Leu130His
TP53_g.13899_13900del commonName del2
TP53_g.12726_12727ins1 commonName ins1
TP53_g.11552C>T commonName C>T
TP53_g.11552C>T protEffect p.Tyr107Tyr
TP53_g.11399A>G commonName A>G
TP53_g.11399A>G protEffect p.Glu56Glu
TP53_g.11534A>T commonName A>T
TP53_g.11534A>T protEffect p.Lys101Asn
TP53_g.11483C>T commonName C>T
TP53_g.11483C>T protEffect p.Ala84Ala
TP53_g.12543C>G commonName C>G
TP53_g.12543C>G protEffect p.Ser185Arg
TP53_g.13890A>T commonName A>T
TP53_g.13890A>T protEffect p.Thr304Ser
TP53_g.13775G>T commonName G>T
TP53_g.13775G>T protEffect p.Leu265Leu
TP53_g.12441_12442delinsT commonName CC>T
TP53_g.14020C>A commonName C>A
TP53_g.14020C>A protEffect p.Pro316Pro
TP53_g.12452_12453delinsTG commonName CC>TG
TP53_g.12452_12453delinsTG protEffect p.Thr155Met
TP53_g.16916G>T commonName G>T
TP53_g.16916G>T protEffect p.Arg342Leu
TP53_g.13780_13781delinsAT commonName GG>AT
TP53_g.13780_13781delinsAT protEffect p.Arg267His
TP53_g.12488del commonName del1
TP53_g.11572_11585del commonName del14
TP53_g.12364_12377del commonName del14
TP53_g.13354_13355ins7 commonName ins7
TP53_g.12433_12445del commonName del13
TP53_g.11469del commonName del1
TP53_g.11550_11560del commonName del11
TP53_g.12714_12715ins2 commonName ins2
TP53_g.11516_11517ins1 commonName ins1
TP53_g.13314G>T commonName G>T
TP53_g.13314G>T protEffect p.Gly226Val
TP53_g.11433del commonName del1
TP53_g.12648del commonName del1
TP53_g.12635_12643del commonName del9
TP53_g.11546_11551del commonName del6
TP53_g.12501_12502ins1 commonName ins1
TP53_g.12492_12493ins2 commonName ins2
TP53_g.13390del commonName del1
TP53_g.11594_11600del commonName del7
TP53_g.11532del commonName del1
TP53_g.11593_11594del commonName del2
TP53_g.12650del commonName del1
TP53_g.11432_11433ins1 commonName ins1
TP53_g.11477G>A commonName G>A
TP53_g.11477G>A protEffect p.Pro82Pro
TP53_g.13814_13815ins15 commonName ins15
TP53_g.11448del commonName del1
TP53_g.11478del commonName del1
TP53_g.11549_11550ins3 commonName ins3
TP53_g.12672_12673ins15 commonName ins15
TP53_g.30004_30034del commonName del31
TP53_g.13773_13787del commonName del15
TP53_g.13872del commonName del1
TP53_g.12526_12527ins2 commonName ins2
TP53_g.13888_13889ins1 commonName ins1
TP53_g.13408_13409ins1 commonName ins1
TP53_g.12526_12527ins1 commonName ins1
TP53_g.13409_13410ins1 commonName ins1
TP53_g.13336del commonName del1
TP53_g.12397C>G commonName C>G
TP53_g.12397C>G protEffect p.Leu137Val
TP53_g.12673C>G commonName C>G
TP53_g.12673C>G protEffect p.Arg202Gly
TP53_g.13344_13345ins1 commonName ins1
TP53_g.13390_13393del commonName del4
TP53_g.11372G>A commonName G>A
TP53_g.11372G>A protEffect p.Pro47Pro
TP53_g.12714_12715ins1 commonName ins1
TP53_g.12439_12451del commonName del13
TP53_g.17908A>T commonName A>T
TP53_g.13419G>A commonName G>A
TP53_g.13419G>A protEffect p.Ser261Asn
TP53_g.12457_12516del commonName del60
TP53_g.12527A>C commonName A>C
TP53_g.12527A>C protEffect p.Glu180Ala
TP53_g.12541A>C commonName A>C
TP53_g.12541A>C protEffect p.Ser185Arg
TP53_g.13886del commonName del1
TP53_g.12688del commonName del1
TP53_g.12695del commonName del1
TP53_g.13387_13388ins21 commonName ins21
TP53_g.12512_12513delinsAG commonName GC>AG
TP53_g.12512_12513delinsAG protEffect p.Arg175Gln
TP53_g.12416_12417delinsGT commonName TG>GT
TP53_g.12416_12417delinsGT protEffect p.Val143Gly
TP53_g.11425G>C commonName G>C
TP53_g.11425G>C protEffect p.Arg65Thr
TP53_g.11552_11553ins1 commonName ins1
TP53_g.12444_12445ins2 commonName ins2
TP53_g.13811T>G commonName T>G
TP53_g.13811T>G protEffect p.Cys277Trp
TP53_g.14010G>T commonName G>T
TP53_g.14010G>T protEffect p.Ser313Ile
TP53_g.14032G>T commonName G>T
TP53_g.14032G>T protEffect p.Lys320Asn
TP53_g.13354_13355ins1 commonName ins1
TP53_g.11348_11349ins1 commonName ins1
TP53_g.11390_11391ins1 commonName ins1
TP53_g.11555T>C commonName T>C
TP53_g.11555T>C protEffect p.Gly108Gly
TP53_g.13830_13831ins1 commonName ins1
TP53_g.11585_11586ins1 commonName ins1
TP53_g.14023_14024ins1 commonName ins1
TP53_g.12640_12653del commonName del14
TP53_g.14052A>C commonName A>C
TP53_g.14052A>C protEffect p.Tyr327Ser
TP53_g.11604_11638del commonName del35
TP53_g.13791_13799del commonName del9
TP53_g.11445del commonName del1
TP53_g.14020_14021ins50 commonName ins50
TP53_g.16885_16984del commonName del100
TP53_g.16885_17004del commonName del120
TP53_g.13369_13382del commonName del14
TP53_g.12390_12391ins1 commonName ins1
TP53_g.13827C>A commonName C>A
TP53_g.13827C>A protEffect p.Arg283Ser
TP53_g.13415_13416ins1 commonName ins1
TP53_g.11345del commonName del1
TP53_g.13353_13361del commonName del9
TP53_g.11340T>A commonName T>A
TP53_g.11340T>A protEffect p.Ser37Thr
TP53_g.11544G>T commonName G>T
TP53_g.11544G>T protEffect p.Gly105Cys
TP53_g.12454_12460del commonName del7
TP53_g.11385_11386ins4 commonName ins4
TP53_g.12433_13272del commonName del840
TP53_g.16965G>T commonName G>T
TP53_g.16965G>T protEffect p.Glu358Asp
TP53_g.13394_13395ins1 commonName ins1
TP53_g.11455C>T commonName C>T
TP53_g.11455C>T protEffect p.Pro75Leu
TP53_g.11494C>T commonName C>T
TP53_g.11494C>T protEffect p.Ala88Val
TP53_g.11431C>T commonName C>T
TP53_g.11431C>T protEffect p.Pro67Leu
TP53_g.11507C>T commonName C>T
TP53_g.11507C>T protEffect p.Pro92Pro
TP53_g.11597G>C commonName G>C
TP53_g.11597G>C protEffect p.Val122Val
TP53_g.13366_13367delinsAA commonName GG>AA
TP53_g.13366_13367delinsAA protEffect M243I;G244S]
TP53_g.12439_12507del commonName del69
TP53_g.13336C>G commonName C>G
TP53_g.13336C>G protEffect p.His233Gln
TP53_g.11553G>A commonName G>A
TP53_g.11553G>A protEffect p.Gly108Ser
TP53_g.12373_12735del commonName del363
TP53_g.13310_13630del commonName del321
TP53_g.12544_12545del commonName del2
TP53_g.11478_11479del commonName del2
TP53_g.12478_12611del commonName del134
TP53_g.13831_13834del commonName del4
TP53_g.12388T>G commonName T>G
TP53_g.12388T>G protEffect p.Phe134Val
TP53_g.12631C>T commonName C>T
TP53_g.12631C>T protEffect p.Leu188Leu
TP53_g.12559G>A commonName G>A
TP53_g.13315C>G commonName C>G
TP53_g.13315C>G protEffect p.Gly226Gly
TP53_g.12759G>C commonName G>C
TP53_g.13775G>A commonName G>A
TP53_g.13775G>A protEffect p.Leu265Leu
TP53_g.13891C>T commonName C>T
TP53_g.13891C>T protEffect p.Thr304Ile
TP53_g.13293C>T commonName C>T
TP53_g.13845C>G commonName C>G
TP53_g.13845C>G protEffect p.Leu289Val
TP53_g.12437C>G commonName C>G
TP53_g.12437C>G protEffect p.Thr150Arg
TP53_g.12641_12643del commonName del3
TP53_g.13925delinsAT commonName G>AT
TP53_g.12418C>A commonName C>A
TP53_g.12418C>A protEffect p.Gln144Lys
TP53_g.13856A>C commonName A>C
TP53_g.13856A>C protEffect p.Lys292Asn
TP53_g.13320_13321del commonName del2
TP53_g.12645_12646delinsCA commonName GC>CA
TP53_g.12645_12646delinsCA protEffect Q192H;H193N]
TP53_g.13420G>C commonName G>C
TP53_g.12511_12529del commonName del19
TP53_g.12406_12427del commonName del22
TP53_g.13391_13401del commonName del11
TP53_g.11373del commonName del1
TP53_g.11499del commonName del1
TP53_g.12674_12675delinsCG commonName GT>CG
TP53_g.12674_12675delinsCG protEffect p.Arg202Pro
TP53_g.16922T>C commonName T>C
TP53_g.16922T>C protEffect p.Leu344Pro
TP53_g.11553_11558del commonName del6
TP53_g.11482_11483delinsTT commonName CC>TT
TP53_g.11482_11483delinsTT protEffect p.Ala84Val
TP53_g.13382_13405del commonName del24
TP53_g.13412del commonName del1
TP53_g.13301A>G commonName A>G
TP53_g.12471_12472ins1 commonName ins1
TP53_g.13335A>G commonName A>G
TP53_g.13335A>G protEffect p.His233Arg
TP53_g.12703T>G commonName T>G
TP53_g.12703T>G protEffect p.Phe212Val
TP53_g.13313G>A commonName G>A
TP53_g.13313G>A protEffect p.Gly226Ser
TP53_g.13411A>G commonName A>G
TP53_g.13411A>G protEffect p.Glu258Glu
TP53_g.13392_13393ins1 commonName ins1
TP53_g.12440_12441ins1 commonName ins1
TP53_g.11474_11475ins1 commonName ins1
TP53_g.11374A>G commonName A>G
TP53_g.11374A>G protEffect p.Asp48Gly
TP53_g.13877_13878ins1 commonName ins1
TP53_g.12448_12449delinsAT commonName GG>AT
TP53_g.12448_12449delinsAT protEffect p.Gly154Ile
TP53_g.11499_11513del commonName del15
TP53_g.13394_13399del commonName del6
TP53_g.13769_13770ins51 commonName ins51
TP53_g.13791_13806del commonName del16
TP53_g.12522C>G commonName C>G
TP53_g.12522C>G protEffect p.His178Gln
TP53_g.12668A>T commonName A>T
TP53_g.12668A>T protEffect p.Asn200Ile
TP53_g.11385_11397del commonName del13
TP53_g.11441_11442ins1 commonName ins1
TP53_g.14022A>G commonName A>G
TP53_g.14022A>G protEffect p.Gln317Arg
TP53_g.12511_12516del commonName del6
TP53_g.12646_12654del commonName del9
TP53_g.12772A>G commonName A>G
TP53_g.14076T>C commonName T>C
TP53_g.13396_13404del commonName del9
TP53_g.11071A>G commonName A>G
TP53_g.11071A>G protEffect p.Leu22Leu
TP53_g.12461_12462delinsAA commonName GC>AA
TP53_g.12461_12462delinsAA protEffect p.Arg158Gln
TP53_g.13345_13346delinsAT commonName CA>AT
TP53_g.13345_13346delinsAT protEffect Y236X
TP53_g.12547_12552del commonName del6
TP53_g.16981G>C commonName G>C
TP53_g.16981G>C protEffect p.Ala364Pro
TP53_g.11403C>A commonName C>A
TP53_g.11403C>A protEffect p.Pro58Thr
TP53_g.11555_11556ins1 commonName ins1
TP53_g.12670_12671delinsCC commonName TT>CC
TP53_g.12670_12671delinsCC protEffect p.Leu201Pro
TP53_g.12376_12412del commonName del37
TP53_g.12505_12520del commonName del16
TP53_g.12396_12397ins1 commonName ins1
TP53_g.13437A>T commonName A>T
TP53_g.14050_14051ins1 commonName ins1
TP53_g.16914del commonName del1
TP53_g.11561_11562ins1 commonName ins1
TP53_g.12517C>G commonName C>G
TP53_g.12517C>G protEffect p.Pro177Ala
TP53_g.13833_13834ins1 commonName ins1
TP53_g.12653_12654ins1 commonName ins1
TP53_g.13351_13352ins8 commonName ins8
TP53_g.12681_12682ins1 commonName ins1
TP53_g.11206_11207ins1 commonName ins1
TP53_g.12655_12676del commonName del22
TP53_g.12658_12663del commonName del6
TP53_g.13402_13403ins12 commonName ins12
TP53_g.13763_13786del commonName del24
TP53_g.14066G>C commonName G>C
TP53_g.11495_11496ins11 commonName ins11
TP53_g.12406_12415del commonName del10
TP53_g.11298C>A commonName C>A
TP53_g.11509del commonName del1
TP53_g.13797_13798delinsTA commonName CG>TA
TP53_g.13797_13798delinsTA protEffect p.Arg273Tyr
TP53_g.11407G>A commonName G>A
TP53_g.11407G>A protEffect p.Gly59Asp
TP53_g.11568T>C commonName T>C
TP53_g.11568T>C protEffect p.Phe113Leu
TP53_g.11436G>A commonName G>A
TP53_g.11436G>A protEffect p.Ala69Thr
TP53_g.14051T>C commonName T>C
TP53_g.14051T>C protEffect p.Tyr327His
TP53_g.13788_13823del commonName del36
TP53_g.30014_30015ins1 commonName ins1
TP53_g.12635C>A commonName C>A
TP53_g.12635C>A protEffect p.Ala189Asp
TP53_g.12688G>A commonName G>A
TP53_g.12688G>A protEffect p.Asp207Asn
TP53_g.14056_14057ins14 commonName ins14
TP53_g.12721_12732del commonName del12
TP53_g.13761A>G commonName A>G
TP53_g.12639_12640ins1 commonName ins1
TP53_g.13899_13992del commonName del94
TP53_g.12382_12383delinsTT commonName AA>TT
TP53_g.12382_12383delinsTT protEffect p.Lys132Leu
TP53_g.12385A>T commonName A>T
TP53_g.12385A>T protEffect p.Met133Leu
TP53_g.12368C>G commonName C>G
TP53_g.12368C>G protEffect p.Ser127Cys
TP53_g.13797_13798ins1 commonName ins1
TP53_g.13410A>C commonName A>C
TP53_g.13410A>C protEffect p.Glu258Ala
TP53_g.12457_12458ins6 commonName ins6
TP53_g.12544G>C commonName G>C
TP53_g.12544G>C protEffect p.Asp186His
TP53_g.12494_12495ins1 commonName ins1
TP53_g.13876T>G commonName T>G
TP53_g.13876T>G protEffect p.Leu299Arg
TP53_g.13863_13864ins2 commonName ins2
TP53_g.13334_13335ins1 commonName ins1
TP53_g.11209_11210delinsGG commonName CA>GG
TP53_g.11209_11210delinsGG protEffect N29K;N30D]
TP53_g.12663_12664ins63 commonName ins63
TP53_g.13845_13854del commonName del10
TP53_g.14021_14039del commonName del19
TP53_g.12649_12650del commonName del2
TP53_g.13394_13413del commonName del20
TP53_g.11391del commonName del1
TP53_g.11361del commonName del1
TP53_g.11558_11559ins6 commonName ins6
TP53_g.12408_12409ins2 commonName ins2
TP53_g.30006_30053del commonName del48
TP53_g.13766T>C commonName T>C
TP53_g.13766T>C protEffect p.Gly262Gly
TP53_g.12462_12463ins6 commonName ins6
TP53_g.30016_30042del commonName del27
TP53_g.13367_13369del commonName del3
TP53_g.17913del commonName del1
TP53_g.12516C>T commonName C>T
TP53_g.12516C>T protEffect p.Cys176Cys
TP53_g.13417del commonName del1
TP53_g.12723_12724ins3 commonName ins3
TP53_g.12702_12703ins36 commonName ins36
TP53_g.13771T>G commonName T>G
TP53_g.13771T>G protEffect p.Leu264Arg
TP53_g.12394_12395ins2 commonName ins2
TP53_g.13408_13456del commonName del49
TP53_g.13847_13848ins5 commonName ins5
TP53_g.13786_13787ins1 commonName ins1
TP53_g.12765T>A commonName T>A
TP53_g.12438del commonName del1
TP53_g.12670T>C commonName T>C
TP53_g.12670T>C protEffect p.Leu201Leu
TP53_g.30014_30015del commonName del2
TP53_g.11197_11218del commonName del22
TP53_g.30018_30019ins74 commonName ins74
TP53_g.11367_11384del commonName del18
TP53_g.11550T>G commonName T>G
TP53_g.11550T>G protEffect p.Tyr107Asp
TP53_g.13319_13322del commonName del4
TP53_g.13355_13356ins1 commonName ins1
TP53_g.12652_12670del commonName del19
TP53_g.13870A>G commonName A>G
TP53_g.13870A>G protEffect p.His297Arg
TP53_g.11507_11508ins1 commonName ins1
TP53_g.13798del commonName del1
TP53_g.12379del commonName del1
TP53_g.13327C>T commonName C>T
TP53_g.13327C>T protEffect p.Thr230Thr
TP53_g.12615del commonName del1
TP53_g.11406G>T commonName G>T
TP53_g.11406G>T protEffect p.Gly59Cys
TP53_g.16902_16903ins1 commonName ins1
TP53_g.13331_13338del commonName del8
TP53_g.11906_11927del commonName del exon3
TP53_g.11467_11691del commonName del225
TP53_g.12509_12526del commonName del18
TP53_g.11428T>G commonName T>G
TP53_g.11428T>G protEffect p.Met66Arg
TP53_g.17935T>G commonName T>G
TP53_g.17935T>G protEffect p.Ser376Ala
TP53_g.11327_11345del commonName del19
TP53_g.14054_14055ins1 commonName ins1
TP53_g.12671T>C commonName T>C
TP53_g.12671T>C protEffect p.Leu201Ser
TP53_g.12543C>A commonName C>A
TP53_g.12543C>A protEffect p.Ser185Arg
TP53_g.16928A>C commonName A>C
TP53_g.16928A>C protEffect p.Glu346Ala
TP53_g.11041_11392del commonName del352
TP53_g.13991_14009del commonName del19
TP53_g.12644_12645ins24 commonName ins24
TP53_g.12729del commonName del1
TP53_g.12398_12399ins3 commonName ins3
TP53_g.11467C>T commonName C>T
TP53_g.11467C>T protEffect p.Ala79Val
TP53_g.11548_11605del commonName del58
TP53_g.17935T>A commonName T>A
TP53_g.17935T>A protEffect p.Ser376Thr
TP53_g.13407_13418del commonName del12
TP53_g.11020G>T commonName G>T
TP53_g.11020G>T protEffect p.Gln5His
TP53_g.11582_11592del commonName del11
TP53_g.12634_12660del commonName del27
TP53_g.14044T>A commonName T>A
TP53_g.14044T>A protEffect p.Asp324Glu
TP53_g.12421_12427del commonName del7
TP53_g.12634G>T commonName G>T
TP53_g.12634G>T protEffect p.Ala189Ser
TP53_g.12425_12426delinsA commonName GG>A
TP53_g.11560G>A commonName G>A
TP53_g.11560G>A protEffect p.Arg110His
TP53_g.11495C>T commonName C>T
TP53_g.11495C>T protEffect p.Ala88Ala
TP53_g.12717G>T commonName G>T
TP53_g.12717G>T protEffect p.Val216Val
TP53_g.12502_12518del commonName del17
TP53_g.13838A>T commonName A>T
TP53_g.13838A>T protEffect p.Glu286Asp
TP53_g.13778_13779ins1 commonName ins1
TP53_g.13847del commonName del1
TP53_g.14023del commonName del1
TP53_g.11492_11517del commonName del26
TP53_g.12681_12682ins7 commonName ins7
TP53_g.13375del commonName del1
TP53_g.12462C>G commonName C>G
TP53_g.12462C>G protEffect p.Arg158Arg
TP53_g.12507G>C commonName G>C
TP53_g.12507G>C protEffect p.Val173Val
TP53_g.12738T>A commonName T>A
TP53_g.12738T>A protEffect p.Pro223Pro
TP53_g.12738_12739ins1 commonName ins1
TP53_g.12418_12420delinsAAA commonName CAG>AAA
TP53_g.12418_12420delinsAAA protEffect p.Gln144Lys
TP53_g.13840A>C commonName A>C
TP53_g.13840A>C protEffect p.Glu287Ala
TP53_g.12463_12464delinsAG commonName GC>AG
TP53_g.12463_12464delinsAG protEffect p.Ala159Ser
TP53_g.12539A>T commonName A>T
TP53_g.12539A>T protEffect p.Asp184Val
TP53_g.12400_12416del commonName del17
TP53_g.12368_12375del commonName del8
TP53_g.11334del commonName del1
TP53_g.17021A>T commonName A>T
TP53_g.12696A>T commonName A>T
TP53_g.12696A>T protEffect p.Arg209Ser
TP53_g.12688G>T commonName G>T
TP53_g.12688G>T protEffect p.Asp207Tyr
TP53_g.11505del commonName del1
TP53_g.13775G>C commonName G>C
TP53_g.13775G>C protEffect p.Leu265Leu
TP53_g.12409_12411delinsGCG commonName TGC>GCG
TP53_g.12409_12411delinsGCG protEffect C141A
TP53_g.11448G>C commonName G>C
TP53_g.11448G>C protEffect p.Val73Leu
TP53_g.12468_12469ins1 commonName ins1
TP53_g.16948G>A commonName G>A
TP53_g.16948G>A protEffect p.Ala353Thr
TP53_g.13782_13783delinsTT commonName AA>TT
TP53_g.13782_13783delinsTT protEffect p.Asn268Phe
TP53_g.16957del commonName del1
TP53_g.12542_12543delinsCG commonName GC>CG
TP53_g.12542_12543delinsCG protEffect p.Ser185Thr
TP53_g.13854A>G commonName A>G
TP53_g.13854A>G protEffect p.Lys292Glu
TP53_g.11441T>G commonName T>G
TP53_g.11441T>G protEffect p.Ala70Ala
TP53_g.12444del commonName del1
TP53_g.13348_13349ins1 commonName ins1
TP53_g.12423_12426del commonName del4
TP53_g.13305C>G commonName C>G
TP53_g.12530del commonName del1
TP53_g.12463_12489del commonName del27
TP53_g.12468_12469ins2 commonName ins2
TP53_g.12547_12551del commonName del5
TP53_g.13862G>T commonName G>T
TP53_g.13862G>T protEffect p.Glu294Asp
TP53_g.16987T>G commonName T>G
TP53_g.16987T>G protEffect p.Ser366Ala
TP53_g.16930G>A commonName G>A
TP53_g.16930G>A protEffect p.Ala347Thr
TP53_g.11203_11209delinsAG commonName TGAAAAC>AG
TP53_g.14005_14006ins1 commonName ins1
TP53_g.13779C>A commonName C>A
TP53_g.13779C>A protEffect p.Arg267Arg
TP53_g.14039C>A commonName C>A
TP53_g.14039C>A protEffect p.Leu323Met
TP53_g.12716_12725del commonName del10
TP53_g.13359_13360del commonName del2
TP53_g.13788_13797del commonName del10
TP53_g.11410C>A commonName C>A
TP53_g.11410C>A protEffect p.Pro60Gln
TP53_g.12650_12678del commonName del29
TP53_g.12486A>G commonName A>G
TP53_g.12486A>G protEffect p.Ser166Ser
TP53_g.13797_13799delinsTCG commonName CGT>TCG
TP53_g.13797_13799delinsTCG protEffect R273S
TP53_g.12700A>C commonName A>C
TP53_g.12700A>C protEffect p.Thr211Pro
TP53_g.13341_13342delinsTG commonName AC>TG
TP53_g.13341_13342delinsTG protEffect p.Asn235Met
TP53_g.13402C>A commonName C>A
TP53_g.13402C>A protEffect p.Ile255Ile
TP53_g.12531_12532ins1 commonName ins1
TP53_g.11442_11447del commonName del6
TP53_g.14064A>G commonName A>G
TP53_g.14064A>G protEffect p.Gln331Arg
TP53_g.13824_13826del commonName del3
TP53_g.12452_12453ins1 commonName ins1
TP53_g.13345_13346ins1 commonName ins1
TP53_g.13327_13328ins1 commonName ins1
TP53_g.12632T>C commonName T>C
TP53_g.12632T>C protEffect p.Leu188Pro
TP53_g.13373_13396del commonName del24
TP53_g.12486_12487ins3 commonName ins3
TP53_g.13342del commonName del1
TP53_g.13993A>T commonName A>T
TP53_g.13993A>T protEffect p.Ala307Ala
TP53_g.12370_12372del commonName del3
TP53_g.12391_12396del commonName del6
TP53_g.12429T>A commonName T>A
TP53_g.12429T>A protEffect p.Val147Val
TP53_g.12512_12523del commonName del12
TP53_g.12669T>C commonName T>C
TP53_g.12669T>C protEffect p.Asn200Asn
TP53_g.12413C>G commonName C>G
TP53_g.12413C>G protEffect p.Pro142Arg
TP53_g.12480del commonName del1
TP53_g.12683_12687del commonName del5
TP53_g.12380_12384del commonName del5
TP53_g.13329del commonName del1
TP53_g.13895G>A commonName G>A
TP53_g.13895G>A protEffect p.Lys305Lys
TP53_g.13784C>A commonName C>A
TP53_g.13784C>A protEffect p.Asn268Lys
TP53_g.13291G>A commonName G>A
TP53_g.13892T>C commonName T>C
TP53_g.13892T>C protEffect p.Thr304Thr
TP53_g.12714_12738del commonName del25
TP53_g.11477_11478ins76 commonName ins76
TP53_g.12517_12520del commonName del4
TP53_g.13430A>T commonName A>T
TP53_g.11454del commonName del1
TP53_g.12356_12357ins1 commonName ins1
TP53_g.13815_13824del commonName del10
TP53_g.13998C>G commonName C>G
TP53_g.13998C>G protEffect p.Pro309Arg
TP53_g.13318T>C commonName T>C
TP53_g.13318T>C protEffect p.Ser227Ser
TP53_g.14028A>G commonName A>G
TP53_g.14028A>G protEffect p.Lys319Arg
TP53_g.13833_13855del commonName del23
TP53_g.12380A>C commonName A>C
TP53_g.12380A>C protEffect p.Asn131Thr
TP53_g.14008C>T commonName C>T
TP53_g.14008C>T protEffect p.Thr312Thr
TP53_g.13835G>T commonName G>T
TP53_g.13835G>T protEffect p.Glu285Asp
TP53_g.11376G>A commonName G>A
TP53_g.11376G>A protEffect p.Asp49Asn
TP53_g.12423_12449del commonName del27
TP53_g.12474_12481del commonName del8
TP53_g.12442_12447del commonName del6
TP53_g.11475C>T commonName C>T
TP53_g.11475C>T protEffect p.Pro82Ser
TP53_g.13803_13820del commonName del18
TP53_g.12471del commonName del1
TP53_g.12382_12383del commonName del2
TP53_g.12438_12452del commonName del15
TP53_g.12668del commonName del1
TP53_g.12746G>A commonName G>A
TP53_g.11545G>A commonName G>A
TP53_g.11545G>A protEffect p.Gly105Asp
TP53_g.11432_11444del commonName del13
TP53_g.12441_12447del commonName del7
TP53_g.12718_12728del commonName del11
TP53_g.12736_12737del commonName del2
TP53_g.12538_12541del commonName del4
TP53_g.12450_12455del commonName del6
TP53_g.12450_12455del protEffect T155_R156del
TP53_g.13806_13820del commonName del15
TP53_g.11364_11365del commonName del2
TP53_g.12373_12381del commonName del9
TP53_g.12407_12408delinsTT commonName CC>TT
TP53_g.12407_12408delinsTT protEffect p.Thr140Ile
TP53_g.12445_12446delinsTT commonName CC>TT
TP53_g.12445_12446delinsTT protEffect p.Pro153Phe
TP53_g.13764_13790del commonName del27
TP53_g.12628_12629delinsAA commonName GG>AA
TP53_g.12542del commonName del1
TP53_g.12713del commonName del1
TP53_g.13770C>G commonName C>G
TP53_g.13770C>G protEffect p.Leu264Val
TP53_g.12703T>A commonName T>A
TP53_g.12703T>A protEffect p.Phe212Ile
TP53_g.12649_12650ins1 commonName ins1
TP53_g.13781G>T commonName G>T
TP53_g.13781G>T protEffect p.Arg267Arg
TP53_g.12698A>C commonName A>C
TP53_g.12698A>C protEffect p.Asn210Thr
TP53_g.13862_13863ins1 commonName ins1
TP53_g.12605T>G commonName T>G
TP53_g.13999C>A commonName C>A
TP53_g.13999C>A protEffect p.Pro309Pro
TP53_g.12369C>G commonName C>G
TP53_g.12369C>G protEffect p.Ser127Ser
TP53_g.12456C>T commonName C>T
TP53_g.12456C>T protEffect p.Arg156Arg
TP53_g.12701C>G commonName C>G
TP53_g.12701C>G protEffect p.Thr211Ser
TP53_g.12736C>A commonName C>A
TP53_g.12736C>A protEffect p.Pro223Thr
TP53_g.12411_12413del commonName del3
TP53_g.11589A>G commonName A>G
TP53_g.11589A>G protEffect p.Lys120Glu
TP53_g.13334_13358del commonName del25
TP53_g.11478_11493del commonName del16
TP53_g.11437C>T commonName C>T
TP53_g.11437C>T protEffect p.Ala69Val
TP53_g.11515C>T commonName C>T
TP53_g.11515C>T protEffect p.Ser95Phe
TP53_g.14040T>C commonName T>C
TP53_g.14040T>C protEffect p.Leu323Pro
TP53_g.13310del commonName del1
TP53_g.16990del commonName del1
TP53_g.14013C>T commonName C>T
TP53_g.14013C>T protEffect p.Ser314Phe
TP53_g.12478_12479ins1 commonName ins1
TP53_g.12453C>A commonName C>A
TP53_g.12453C>A protEffect p.Thr155Thr
TP53_g.12474_12475ins1 commonName ins1
TP53_g.13793G>T commonName G>T
TP53_g.13793G>T protEffect p.Glu271Asp
TP53_g.13763_13764ins3 commonName ins3
TP53_g.12393_12394ins18 commonName ins18
TP53_g.12502_12510del commonName del9
TP53_g.12412_12420del commonName del9
TP53_g.13414_13419del commonName del6
TP53_g.12691_12692delinsAT commonName GA>AT
TP53_g.12691_12692delinsAT protEffect p.Asp208Ile
TP53_g.14061del commonName del1
TP53_g.11601_11602ins1 commonName ins1
TP53_g.11602G>C commonName G>C
TP53_g.11602G>C protEffect p.Cys124Ser
TP53_g.13853del commonName del1
TP53_g.11526T>C commonName T>C
TP53_g.11526T>C protEffect p.Ser99Pro
TP53_g.16904del commonName del1
TP53_g.13324_13325ins3 commonName ins3
TP53_g.12351C>T commonName C>T
TP53_g.11487_11499del commonName del13
TP53_g.12652A>C commonName A>C
TP53_g.12652A>C protEffect p.Ile195Leu
TP53_g.12444G>T commonName G>T
TP53_g.12444G>T protEffect p.Pro152Pro
TP53_g.12543C>T commonName C>T
TP53_g.12543C>T protEffect p.Ser185Ser
TP53_g.12453del commonName del1
TP53_g.12476A>T commonName A>T
TP53_g.12476A>T protEffect p.Tyr163Phe
TP53_g.12519C>A commonName C>A
TP53_g.12519C>A protEffect p.Pro177Pro
TP53_g.12658_12659ins1 commonName ins1
TP53_g.13362_13373del commonName del12
TP53_g.13995_14035del commonName del41
TP53_g.12702T>A commonName T>A
TP53_g.12702T>A protEffect p.Thr211Thr
TP53_g.11544G>A commonName G>A
TP53_g.11544G>A protEffect p.Gly105Ser
TP53_g.12461_12462ins3 commonName ins3
TP53_g.12539_12542del commonName del4
TP53_g.12629_12630ins1 commonName ins1
TP53_g.12704_12705del commonName del2
TP53_g.12738T>G commonName T>G
TP53_g.12738T>G protEffect p.Pro223Pro
TP53_g.13360C>G commonName C>G
TP53_g.13360C>G protEffect p.Ser241Ser
TP53_g.13341_13342ins3 commonName ins3
TP53_g.13804del commonName del1
TP53_g.13806_13829del commonName del24
TP53_g.13881_13882ins1 commonName ins1
TP53_g.12668A>C commonName A>C
TP53_g.12668A>C protEffect p.Asn200Thr
TP53_g.13461C>T commonName C>T
TP53_g.12490_12491ins1 commonName ins1
TP53_g.12572G>A commonName G>A
TP53_g.13321del commonName del1
TP53_g.13787C>A commonName C>A
TP53_g.13787C>A protEffect p.Ser269Arg
TP53_g.13443C>G commonName C>G
TP53_g.13757G>A commonName G>A
TP53_g.12637_12661del commonName del25
TP53_g.12696_12697ins4 commonName ins4
TP53_g.14055T>C commonName T>C
TP53_g.14055T>C protEffect p.Phe328Ser
TP53_g.13309_13310ins5 commonName ins5
TP53_g.13310_13311ins69 commonName ins69
TP53_g.16884_16885ins133 commonName ins133
TP53_g.11484_11485del commonName del2
TP53_g.12389_12406del commonName del18
TP53_g.13310_13356del commonName del47
TP53_g.13881_13889del commonName del9
TP53_g.13871_13872ins17 commonName ins17
TP53_g.12528G>T commonName G>T
TP53_g.12528G>T protEffect p.Glu180Asp
TP53_g.11570_11572del commonName del3
TP53_g.11439G>A commonName G>A
TP53_g.11439G>A protEffect p.Ala70Thr
TP53_g.12515_12516delinsTT commonName GC>TT
TP53_g.12515_12516delinsTT protEffect p.Cys176Phe
TP53_g.12377_12413del commonName del37
TP53_g.11033G>A commonName G>A
TP53_g.11033G>A protEffect p.Val10Ile
TP53_g.11550_11552delinsCAA commonName TAC>CAA
TP53_g.11550_11552delinsCAA protEffect Y107H
TP53_g.11604A>C commonName A>C
TP53_g.11604A>C protEffect p.Thr125Pro
TP53_g.11593del commonName del1
TP53_g.12628del commonName del1
TP53_g.12668_12669ins1 commonName ins1
TP53_g.16921_16933del commonName del13
TP53_g.12390T>C commonName T>C
TP53_g.12390T>C protEffect p.Phe134Phe
TP53_g.12733C>G commonName C>G
TP53_g.12733C>G protEffect p.Pro222Ala
TP53_g.14056C>T commonName C>T
TP53_g.14056C>T protEffect p.Phe328Phe
TP53_g.13864C>A commonName C>A
TP53_g.13864C>A protEffect p.Pro295His
TP53_g.12737C>G commonName C>G
TP53_g.12737C>G protEffect p.Pro223Arg
TP53_g.13342C>T commonName C>T
TP53_g.13342C>T protEffect p.Asn235Asn
TP53_g.12715_12719del commonName del5
TP53_g.11505C>G commonName C>G
TP53_g.11505C>G protEffect p.Pro92Ala
TP53_g.14061T>C commonName T>C
TP53_g.14061T>C protEffect p.Leu330Pro
TP53_g.12424T>A commonName T>A
TP53_g.12424T>A protEffect p.Trp146Arg
TP53_g.11587C>A commonName C>A
TP53_g.11587C>A protEffect p.Ala119Asp
TP53_g.12468_12469delinsAA commonName GG>AA
TP53_g.12468_12469delinsAA protEffect M160I;A161T]
TP53_g.13342_13343delinsTG commonName CT>TG
TP53_g.13342_13343delinsTG protEffect Y236D
TP53_g.13401_13402delinsAT commonName TC>AT
TP53_g.13401_13402delinsAT protEffect p.Ile255Asn
TP53_g.11448G>A commonName G>A
TP53_g.11448G>A protEffect p.Val73Met
TP53_g.12453_12472del commonName del20
TP53_g.11562C>A commonName C>A
TP53_g.11562C>A protEffect p.Leu111Met
TP53_g.12551A>C commonName A>C
TP53_g.12359_12360del commonName del2
TP53_g.12399_12413del commonName del15
TP53_g.12625T>A commonName T>A
TP53_g.17908A>C commonName A>C
TP53_g.12678_12679delinsTT commonName GG>TT
TP53_g.12678_12679delinsTT protEffect E204X
TP53_g.11498del commonName del1
TP53_g.12527del commonName del1
TP53_g.17974G>T commonName G>T
TP53_g.17974G>T protEffect p.Gly389Trp
TP53_g.13763_14162del commonName del400
TP53_g.14035_14036ins2 commonName ins2
TP53_g.12360_12372del commonName del13
TP53_g.12402del commonName del1
TP53_g.12390_12391del commonName del2
TP53_g.13814_13815delinsA commonName TG>A
TP53_g.12632_12643del commonName del12
TP53_g.13992_13998del commonName del7
TP53_g.11553_11555del commonName del3
TP53_g.11451_11457del commonName del7
TP53_g.13333_13343del commonName del11
TP53_g.11006_12187del commonName del1182
TP53_g.11456_11457ins1 commonName ins1
TP53_g.11335_11336ins1 commonName ins1
TP53_g.12641del commonName del1
TP53_g.16974del commonName del1
TP53_g.13420_13556del commonName del137
TP53_g.12394_12395ins1 commonName ins1
TP53_g.11385_11386ins3 commonName ins3
TP53_g.11591G>T commonName G>T
TP53_g.11591G>T protEffect p.Lys120Asn
TP53_g.13388_13389ins1 commonName ins1
TP53_g.11565_11597del commonName del33
TP53_g.11565_11597del protEffect G112_V122del
TP53_g.13334_13336del commonName del3
TP53_g.12712_12714del commonName del3
TP53_g.12517C>A commonName C>A
TP53_g.12517C>A protEffect p.Pro177Thr
TP53_g.16884G>C commonName G>C
TP53_g.14025_14043del commonName del19
TP53_g.11052A>T commonName A>T
TP53_g.11052A>T protEffect p.Gln16Leu
TP53_g.13363del commonName del1
TP53_g.14001_14002ins1 commonName ins1
TP53_g.11589A>T commonName A>T
TP53_g.11589A>T protEffect p.Lys120STOP
TP53_g.13829_13830del commonName del2
TP53_g.17955del commonName del1
TP53_g.12513_12514ins4 commonName ins4
TP53_g.13318del commonName del1
TP53_g.12426_12434del commonName del9
TP53_g.14067T>G commonName T>G
TP53_g.14014del commonName del1
TP53_g.11590del commonName del1
TP53_g.13419G>C commonName G>C
TP53_g.13419G>C protEffect p.Ser261Thr
TP53_g.11333del commonName del1
TP53_g.13859_13860delinsCT commonName GG>CT
TP53_g.13859_13860delinsCT protEffect E294X
TP53_g.11376G>T commonName G>T
TP53_g.11376G>T protEffect p.Asp49Tyr
TP53_g.12739_12740ins5 commonName ins5
TP53_g.13790del commonName del1
TP53_g.12682_12684del commonName del3
TP53_g.30003_30302del commonName del300
TP53_g.12463_12464delinsTT commonName GC>TT
TP53_g.12463_12464delinsTT protEffect p.Ala159Phe
TP53_g.11603C>A commonName C>A
TP53_g.11603C>A protEffect p.Cys124STOP
TP53_g.11080G>A commonName G>A
TP53_g.11081T>C commonName T>C
TP53_g.13795_13796del commonName del2
TP53_g.13349_13362del commonName del14
TP53_g.11326A>G commonName A>G
TP53_g.11352_11356del commonName del5
TP53_g.14057_14078del commonName del22
TP53_g.16906_16910del commonName del5
TP53_g.12497del commonName del1
TP53_g.16888del commonName del1
TP53_g.12478_12492del commonName del15
TP53_g.16884G>A commonName G>A
TP53_g.11477_11478ins8 commonName ins8
TP53_g.11558_11559ins4 commonName ins4
TP53_g.11465_11466delinsGA commonName AG>GA
TP53_g.11465_11466delinsGA protEffect A79T
TP53_g.13784del commonName del1
TP53_g.12649_12651del commonName del3
TP53_g.13848_13849ins1 commonName ins1
TP53_g.12485_12486ins10 commonName ins10
TP53_g.13422C>T commonName C>T
TP53_g.13341_13346del commonName del6
TP53_g.13382_13384del commonName del3
TP53_g.13405del commonName del1
TP53_g.14015T>C commonName T>C
TP53_g.14015T>C protEffect p.Ser315Pro
TP53_g.13335_13336del commonName del2
TP53_g.14059C>T commonName C>T
TP53_g.14059C>T protEffect p.Thr329Thr
TP53_g.12354C>T commonName C>T
TP53_g.11445C>T commonName C>T
TP53_g.11445C>T protEffect p.Pro/Arg72Cys
TP53_g.13414del commonName del1
TP53_g.11460del commonName del1
TP53_g.14065G>A commonName G>A
TP53_g.14065G>A protEffect p.Gln331Gln
TP53_g.12454_12455ins1 commonName ins1
TP53_g.12367_12396del commonName del30
TP53_g.13412_13413delinsAG commonName GA>AG
TP53_g.13412_13413delinsAG protEffect p.Asp259Ser
TP53_g.12641_12642ins2 commonName ins2
TP53_g.12681G>C commonName G>C
TP53_g.12681G>C protEffect p.Glu204Asp
TP53_g.13994C>G commonName C>G
TP53_g.13994C>G protEffect p.Leu308Val
TP53_g.14039C>G commonName C>G
TP53_g.14039C>G protEffect p.Leu323Val
TP53_g.12417_12418del commonName del2
TP53_g.14005C>G commonName C>G
TP53_g.14005C>G protEffect p.Asn311Lys
TP53_g.14017T>G commonName T>G
TP53_g.14017T>G protEffect p.Ser315Ser
TP53_g.12639_12641del commonName del3
TP53_g.13820_13825del commonName del6
TP53_g.12672_12673ins4 commonName ins4
TP53_g.17985_17988del commonName del4
TP53_g.12614A>T commonName A>T
TP53_g.14042G>T commonName G>T
TP53_g.14042G>T protEffect p.Asp324Tyr
TP53_g.12480_12481delinsTT commonName GC>TT
TP53_g.12480_12481delinsTT protEffect K164N;Q165X]
TP53_g.12464_12466del commonName del3
TP53_g.14031_14038del commonName del8
TP53_g.14026_14029del commonName del4
TP53_g.12655C>G commonName C>G
TP53_g.12655C>G protEffect p.Arg196Gly
TP53_g.13994C>T commonName C>T
TP53_g.13994C>T protEffect p.Leu308Leu
TP53_g.13830del commonName del1
TP53_g.13875C>T commonName C>T
TP53_g.13875C>T protEffect p.Leu299Leu
TP53_g.13920G>A commonName G>A
TP53_g.12578G>A commonName G>A
TP53_g.13316T>C commonName T>C
TP53_g.13316T>C protEffect p.Ser227Pro
TP53_g.13407del commonName del1
TP53_g.13820_13821ins4 commonName ins4
TP53_g.12740_12741ins1 commonName ins1
TP53_g.13418_13423del commonName del6
TP53_g.12679G>C commonName G>C
TP53_g.12679G>C protEffect p.Glu204Gln
TP53_g.11535_11537del commonName del3
TP53_g.11559_11561del commonName del3
TP53_g.13299T>C commonName T>C
TP53_g.13763T>A commonName T>A
TP53_g.13763T>A protEffect p.Ser261Arg
TP53_g.11375C>T commonName C>T
TP53_g.11375C>T protEffect p.Asp48Asp
TP53_g.13409_13411del commonName del3
TP53_g.16941del commonName del1
TP53_g.13859_13860del commonName del2
TP53_g.13335del commonName del1
TP53_g.11384A>G commonName A>G
TP53_g.11384A>G protEffect p.Glu51Glu
TP53_g.11387A>T commonName A>T
TP53_g.11387A>T protEffect p.Gln52His
TP53_g.11393C>A commonName C>A
TP53_g.11393C>A protEffect p.Phe54Leu
TP53_g.11432A>G commonName A>G
TP53_g.11432A>G protEffect p.Pro67Pro
TP53_g.11520G>A commonName G>A
TP53_g.11520G>A protEffect p.Val97Ile
TP53_g.11531_11532ins1 commonName ins1
TP53_g.13767_13769delinsTAG commonName AAT>TAG
TP53_g.13767_13769delinsTAG protEffect N263X
TP53_g.13456T>A commonName T>A
TP53_g.12714_12715ins3 commonName ins3
TP53_g.12499_12525del commonName del27
TP53_g.12657A>C commonName A>C
TP53_g.12657A>C protEffect p.Arg196Arg
TP53_g.12501_12527del commonName del27
TP53_g.12454_12474del commonName del21
TP53_g.30019del commonName del1
TP53_g.11219G>A commonName G>A
TP53_g.13823_13824delinsAT commonName CC>AT
TP53_g.13823_13824delinsAT protEffect D281E;R282W]
TP53_g.14001A>T commonName A>T
TP53_g.14001A>T protEffect p.Asn310Ile
TP53_g.14004A>G commonName A>G
TP53_g.14004A>G protEffect p.Asn311Ser
TP53_g.14004A>C commonName A>C
TP53_g.14004A>C protEffect p.Asn311Thr
TP53_g.14023G>T commonName G>T
TP53_g.14023G>T protEffect p.Gln317His
TP53_g.30015_30030del commonName del16
TP53_g.30014_30019del commonName del6
TP53_g.14064_14065ins1 commonName ins1
TP53_g.11367T>C commonName T>C
TP53_g.11367T>C protEffect p.Ser46Pro
TP53_g.12446C>G commonName C>G
TP53_g.12446C>G protEffect p.Pro153Arg
TP53_g.11609C>T commonName C>T
TP53_g.11625C>T commonName C>T
TP53_g.12468_12469delinsCC commonName GG>CC
TP53_g.12468_12469delinsCC protEffect M160I;A161P]
TP53_g.11527C>T commonName C>T
TP53_g.11527C>T protEffect p.Ser99Phe
TP53_g.11534A>G commonName A>G
TP53_g.11534A>G protEffect p.Lys101Lys
TP53_g.11568T>A commonName T>A
TP53_g.11568T>A protEffect p.Phe113Ile
TP53_g.12726_12737del commonName del12
TP53_g.12758G>A commonName G>A
TP53_g.12477del commonName del1
TP53_g.12375_12386del commonName del12
TP53_g.12681G>T commonName G>T
TP53_g.12681G>T protEffect p.Glu204Asp
TP53_g.12700A>T commonName A>T
TP53_g.12700A>T protEffect p.Thr211Ser
TP53_g.13368_13369ins1 commonName ins1
TP53_g.13370_13371ins1 commonName ins1
TP53_g.13377_13378ins1 commonName ins1
TP53_g.13391C>A commonName C>A
TP53_g.13391C>A protEffect p.Leu252Ile
TP53_g.13814T>A commonName T>A
TP53_g.13814T>A protEffect p.Pro278Pro
TP53_g.12502_12503ins7 commonName ins7
TP53_g.13769_13781del commonName del13
TP53_g.12422_12423ins2 commonName ins2
TP53_g.13267_13277delinscccagagccca commonName ccaaggcgcac>cccagagccca
TP53_g.12431A>G commonName A>G
TP53_g.12431A>G protEffect p.Asp148Gly
TP53_g.12662A>T commonName A>T
TP53_g.12662A>T protEffect p.Glu198Val
TP53_g.13413A>C commonName A>C
TP53_g.13413A>C protEffect p.Asp259Ala
TP53_g.12427G>T commonName G>T
TP53_g.12427G>T protEffect p.Val147Phe
TP53_g.12655_12656ins1 commonName ins1
TP53_g.13402_13404del commonName del3
TP53_g.13396del commonName del1
TP53_g.13401del commonName del1
TP53_g.12674_12675ins1 commonName ins1
TP53_g.12709_12710ins1 commonName ins1
TP53_g.12648T>G commonName T>G
TP53_g.12648T>G protEffect p.His193Gln
TP53_g.12687_12688del commonName del2
TP53_g.14009A>C commonName A>C
TP53_g.14009A>C protEffect p.Ser313Arg
TP53_g.11505C>T commonName C>T
TP53_g.11505C>T protEffect p.Pro92Ser
TP53_g.17984_17985ins1 commonName ins1
TP53_g.11022C>T commonName C>T
TP53_g.11022C>T protEffect p.Ser6Leu
TP53_g.11392T>A commonName T>A
TP53_g.11392T>A protEffect p.Phe54Tyr
TP53_g.14058C>G commonName C>G
TP53_g.14058C>G protEffect p.Thr329Ser
TP53_g.11500C>A commonName C>A
TP53_g.11500C>A protEffect p.Ser90Tyr
TP53_g.13824_13825ins1 commonName ins1
TP53_g.13796G>T commonName G>T
TP53_g.13796G>T protEffect p.Val272Val
TP53_g.12375_12376ins1 commonName ins1
TP53_g.12640_12645del commonName del6
TP53_g.13324_13325del commonName del2
TP53_g.13325_13339del commonName del15
TP53_g.13773_13895del commonName del123
TP53_g.14024_14038del commonName del15
TP53_g.11054_11056del commonName del3
TP53_g.11059_11065del commonName del7
TP53_g.11498_11499ins1 commonName ins1
TP53_g.12644A>C commonName A>C
TP53_g.12644A>C protEffect p.Gln192Pro
TP53_g.13796_13797ins7 commonName ins7
TP53_g.11538_11564del commonName del27
TP53_g.11538_11564del protEffect Y103_L111del
TP53_g.12377_12378delinsCT commonName TC>CT
TP53_g.12377_12378delinsCT protEffect p.Leu130Pro
TP53_g.12393del commonName del1
TP53_g.12380_12381delinsGT commonName AC>GT
TP53_g.12380_12381delinsGT protEffect p.Asn131Ser
TP53_g.12437_12438delinsAC commonName CA>AC
TP53_g.12437_12438delinsAC protEffect p.Thr150Asn
TP53_g.12438A>T commonName A>T
TP53_g.12438A>T protEffect p.Thr150Thr
TP53_g.13861A>C commonName A>C
TP53_g.13861A>C protEffect p.Glu294Ala
TP53_g.13899_13900delinsTT commonName GG>TT
TP53_g.13786_13787ins12 commonName ins12
TP53_g.13431C>T commonName C>T
TP53_g.12799C>T commonName C>T
TP53_g.12555G>A commonName G>A
TP53_g.11623G>A commonName G>A
TP53_g.13450G>A commonName G>A
TP53_g.13465G>A commonName G>A
TP53_g.11584C>T commonName C>T
TP53_g.11584C>T protEffect p.Thr118Ile
TP53_g.11362T>C commonName T>C
TP53_g.11362T>C protEffect p.Met44Thr
TP53_g.11602G>A commonName G>A
TP53_g.11602G>A protEffect p.Cys124Tyr
TP53_g.12526_12527del commonName del2
TP53_g.11460_11489del commonName del30
TP53_g.11551A>G commonName A>G
TP53_g.11551A>G protEffect p.Tyr107Cys
TP53_g.11604A>G commonName A>G
TP53_g.11604A>G protEffect p.Thr125Ala
TP53_g.11521T>C commonName T>C
TP53_g.11521T>C protEffect p.Val97Ala
TP53_g.11361A>G commonName A>G
TP53_g.11361A>G protEffect p.Met44Val
TP53_g.11584C>G commonName C>G
TP53_g.11584C>G protEffect p.Thr118Arg
TP53_g.11651G>A commonName G>A
TP53_g.11624G>A commonName G>A
TP53_g.12407C>A commonName C>A
TP53_g.12407C>A protEffect p.Thr140Asn
TP53_g.12488_12489ins1 commonName ins1
TP53_g.12500_12501delinsTC commonName AG>TC
TP53_g.12500_12501delinsTC protEffect p.Glu171Val
TP53_g.12487_12492delinsTACCTC commonName CAGCAC>TACCTC
TP53_g.12487_12492delinsTACCTC protEffect Q167Y;H168L]
TP53_g.12646_12647ins1 commonName ins1
TP53_g.13332_13333ins1 commonName ins1
TP53_g.12529_12534delinsTGCTGT commonName CGCTGC>TGCTGT
TP53_g.12529_12534delinsTGCTGT protEffect R181C
TP53_g.12491_12495delinsTCATT commonName ACATG>TCATT
TP53_g.12491_12495delinsTCATT protEffect H168L/M169I]
TP53_g.12699C>G commonName C>G
TP53_g.12699C>G protEffect p.Asn210Lys
TP53_g.12676_12681delinsCTGGTG commonName GTGGAG>CTGGTG
TP53_g.12676_12681delinsCTGGTG protEffect V203L/E204V]
TP53_g.12497_12498ins1 commonName ins1
TP53_g.13377del commonName del1
TP53_g.12638del commonName del1
TP53_g.13380del commonName del1
TP53_g.13389_13390ins1 commonName ins1
TP53_g.13881C>A commonName C>A
TP53_g.13881C>A protEffect p.Pro301Thr
TP53_g.13436C>A commonName C>A
TP53_g.13438C>G commonName C>G
TP53_g.11600del commonName del1
TP53_g.14058C>T commonName C>T
TP53_g.14058C>T protEffect p.Thr329Ile
TP53_g.13334_13363del commonName del30
TP53_g.13429C>A commonName C>A
TP53_g.16998G>T commonName G>T
TP53_g.12735G>A commonName G>A
TP53_g.12735G>A protEffect p.Pro222Pro
TP53_g.13931G>T commonName G>T
TP53_g.13754C>A commonName C>A
TP53_g.13827_13836del commonName del10
TP53_g.12552G>T commonName G>T
TP53_g.13293C>A commonName C>A
TP53_g.12715_12716ins1 commonName ins1
TP53_g.11606G>C commonName G>C
TP53_g.11606G>C protEffect p.Thr125Thr
TP53_g.12755C>T commonName C>T
TP53_g.12454_12462del commonName del9
TP53_g.12441_12444del commonName del4
TP53_g.11483_11493del commonName del11
TP53_g.16916_16917del commonName del2
TP53_g.11494del commonName del1
TP53_g.16906G>A commonName G>A
TP53_g.16906G>A protEffect p.Glu339Lys
TP53_g.16916del commonName del1
TP53_g.12521_12523del commonName del3
TP53_g.16951C>A commonName C>A
TP53_g.16951C>A protEffect p.Gln354Lys
TP53_g.13298G>T commonName G>T
TP53_g.13335A>C commonName A>C
TP53_g.13335A>C protEffect p.His233Pro
TP53_g.12738T>C commonName T>C
TP53_g.12738T>C protEffect p.Pro223Pro
TP53_g.11489_11511del commonName del23
TP53_g.12440_12442del commonName del3
TP53_g.12454_12471del commonName del18
TP53_g.13369_13373del commonName del5
TP53_g.13796_13797delinsTT commonName GC>TT
TP53_g.13796_13797delinsTT protEffect V272V;R273C]
TP53_g.12445_12456del commonName del12
TP53_g.13895_13896delinsTT commonName GC>TT
TP53_g.13895_13896delinsTT protEffect K305N;R306X]
TP53_g.12540_12541ins4 commonName ins4
TP53_g.12379_12384del commonName del6
TP53_g.12374C>G commonName C>G
TP53_g.12374C>G protEffect p.Ala129Gly
TP53_g.13340del commonName del1
TP53_g.12680_12681ins1 commonName ins1
TP53_g.12727_12728ins1 commonName ins1
TP53_g.12727_12728ins1 protEffect Y220X
TP53_g.13376_13377delinsTT commonName AA>TT
TP53_g.13376_13377delinsTT protEffect p.Asn247Phe
TP53_g.13377_13381delinsTTCCC commonName ACCGG>TTCCC
TP53_g.13377_13381delinsTTCCC protEffect N247I;R248]
TP53_g.12677_12678ins1 commonName ins1
TP53_g.13368del commonName del1
TP53_g.13413del commonName del1
TP53_g.11381_11388del commonName del8
TP53_g.11361_11364del commonName del4
TP53_g.11538_11552del commonName del15
TP53_g.11541del commonName del1
TP53_g.11568_11570del commonName del3
TP53_g.12378_12380del commonName del3
TP53_g.12428_12457del commonName del30
TP53_g.12742del commonName del1
TP53_g.14006_14007del commonName del2
TP53_g.14048_14078del commonName del31
TP53_g.14051_14052del commonName del2
TP53_g.16919del commonName del1
TP53_g.11601T>G commonName T>G
TP53_g.11601T>G protEffect p.Cys124Gly
TP53_g.16906G>C commonName G>C
TP53_g.16906G>C protEffect p.Glu339Gln
TP53_g.17984C>T commonName C>T
TP53_g.17984C>T protEffect p.Ser392Leu
TP53_g.14063_14064ins2 commonName ins2
TP53_g.13353_13364del commonName del12
TP53_g.13985_13991del commonName del7
TP53_g.13787_13789del commonName del3
TP53_g.12724_12739del commonName del16
TP53_g.12394_12397del commonName del4
TP53_g.11542del commonName del1
TP53_g.11343del commonName del1
TP53_g.11510_11511ins7 commonName ins7
TP53_g.11558_11559ins11 commonName ins11
TP53_g.11589A>C commonName A>C
TP53_g.11589A>C protEffect p.Lys120Gln
TP53_g.13352_13373del commonName del22
TP53_g.13370_13372del commonName del3
TP53_g.13382_13390del commonName del9
TP53_g.12460_12461ins3 commonName ins3
TP53_g.11204_11206delinsCA commonName GAA>CA
TP53_g.30005del commonName del1
TP53_g.12402_12403ins8 commonName ins8
TP53_g.12503del commonName del1
TP53_g.14013_14029del commonName del17
TP53_g.12465del commonName del1
TP53_g.12490_12513del commonName del24
TP53_g.13347_13348del commonName del2
TP53_g.13790_13791delinsGT commonName TG>GT
TP53_g.13790_13791delinsGT protEffect F270L;E271X]
TP53_g.11059A>T commonName A>T
TP53_g.11059A>T protEffect p.Thr18Thr
TP53_g.12665del commonName del1
TP53_g.13769T>G commonName T>G
TP53_g.13769T>G protEffect p.Asn263Lys
TP53_g.13996G>T commonName G>T
TP53_g.13996G>T protEffect p.Leu308Leu
TP53_g.12720_12761del commonName del42
TP53_g.11340_11361del commonName del22
TP53_g.12396A>T commonName A>T
TP53_g.12396A>T protEffect p.Gln136His
TP53_g.11404C>A commonName C>A
TP53_g.11404C>A protEffect p.Pro58Gln
TP53_g.11578C>T commonName C>T
TP53_g.11578C>T protEffect p.Ser116Phe
TP53_g.11614G>A commonName G>A
TP53_g.11621G>A commonName G>A
TP53_g.12467T>C commonName T>C
TP53_g.12467T>C protEffect p.Met160Thr
TP53_g.12725C>G commonName C>G
TP53_g.12725C>G protEffect p.Pro219Arg
TP53_g.11583A>G commonName A>G
TP53_g.11583A>G protEffect p.Thr118Ala
TP53_g.13875C>G commonName C>G
TP53_g.13875C>G protEffect p.Leu299Val
TP53_g.11457_11501del commonName del45
TP53_g.11429G>A commonName G>A
TP53_g.11429G>A protEffect p.Met66Ile
TP53_g.11558C>T commonName C>T
TP53_g.11558C>T protEffect p.Phe109Phe
TP53_g.13781G>C commonName G>C
TP53_g.13781G>C protEffect p.Arg267Arg
TP53_g.13816_13817delinsTA commonName GG>TA
TP53_g.13816_13817delinsTA protEffect p.Gly279Val
TP53_g.12721_12741del commonName del21
TP53_g.11570C>G commonName C>G
TP53_g.11570C>G protEffect p.Phe113Leu
TP53_g.13753_13783del commonName del31
TP53_g.13345del commonName del1
TP53_g.12416T>G commonName T>G
TP53_g.12416T>G protEffect p.Val143Gly
TP53_g.16895del commonName del1
TP53_g.14063del commonName del1
TP53_g.12470_12472del commonName del3
TP53_g.11393del commonName del1
TP53_g.13386_13394del commonName del9
TP53_g.11346G>C commonName G>C
TP53_g.11346G>C protEffect p.Ala39Pro
TP53_g.16934T>C commonName T>C
TP53_g.16934T>C protEffect p.Leu348Ser
TP53_g.12626_12638del commonName del13
TP53_g.13821_13835del commonName del15
TP53_g.12488_12489ins2 commonName ins2
TP53_g.12495_12496delinsTT commonName GA>TT
TP53_g.12495_12496delinsTT protEffect M169I;T170S]
TP53_g.12484_12493del commonName del10
TP53_g.11493G>A commonName G>A
TP53_g.11493G>A protEffect p.Ala88Thr
TP53_g.12728A>T commonName A>T
TP53_g.12728A>T protEffect p.Tyr220Phe
TP53_g.13317_13318del commonName del2
TP53_g.13899G>C commonName G>C
TP53_g.13899G>C protEffect p.Ala307Pro
TP53_g.11524_11525ins5 commonName ins5
TP53_g.12430_12470del commonName del41
TP53_g.13354del commonName del1
TP53_g.12457_12458ins4 commonName ins4
TP53_g.12398_12419del commonName del22
TP53_g.12511_12544del commonName del34
TP53_g.13811_13812ins3 commonName ins3
TP53_g.12442_12443delinsT commonName CC>T
TP53_g.13375_13392del commonName del18
TP53_g.13869_13894del commonName del26
TP53_g.13354_13355del commonName del2
TP53_g.13864_13889del commonName del26
TP53_g.13797_13833del commonName del37
TP53_g.16903T>C commonName T>C
TP53_g.16903T>C protEffect p.Phe338Leu
TP53_g.13780G>T commonName G>T
TP53_g.13780G>T protEffect p.Arg267Leu
TP53_g.11211A>G commonName A>G
TP53_g.11211A>G protEffect p.Asn30Ser
TP53_g.17915T>C commonName T>C
TP53_g.17915T>C protEffect p.Leu369Pro
TP53_g.11054G>A commonName G>A
TP53_g.11054G>A protEffect p.Glu17Lys
TP53_g.12490_12510del commonName del21
TP53_g.13310_13330del commonName del21
TP53_g.11451_11510del commonName del60
TP53_g.12376_12390del commonName del15
TP53_g.11429_11430ins1 commonName ins1
TP53_g.13856del commonName del1
TP53_g.11567_11569del commonName del3
TP53_g.11556T>G commonName T>G
TP53_g.11556T>G protEffect p.Phe109Val
TP53_g.11577_11589del commonName del13
TP53_g.12385_12403del commonName del19
TP53_g.12333T>C commonName T>C
TP53_g.12669T>G commonName T>G
TP53_g.12669T>G protEffect p.Asn200Lys
TP53_g.13998C>A commonName C>A
TP53_g.13998C>A protEffect p.Pro309His
TP53_g.13366G>T commonName G>T
TP53_g.13366G>T protEffect p.Met243Ile
TP53_g.12721del commonName del1
TP53_g.13785_13821del commonName del37
TP53_g.11538_11556del commonName del19
TP53_g.11550_11551del commonName del2
TP53_g.13369_13370ins3 commonName ins3
TP53_g.14027del commonName del1
TP53_g.16884_16885ins14 commonName ins14
TP53_g.16908_16909ins2 commonName ins2
TP53_g.12363_12364ins18 commonName ins18
TP53_g.13837_13843del commonName del7
TP53_g.17986_17989del commonName del4
TP53_g.12718G>A commonName G>A
TP53_g.12718G>A protEffect p.Val217Met
TP53_g.12630T>G commonName T>G
TP53_g.12630T>G protEffect p.Gly187Gly
TP53_g.13803_13804delinsCA commonName TG>CA
TP53_g.13803_13804delinsCA protEffect p.Cys275His
TP53_g.12697A>T commonName A>T
TP53_g.12697A>T protEffect p.Asn210Tyr
TP53_g.13990A>C commonName A>C
TP53_g.13371del commonName del1
TP53_g.14052_14053ins2 commonName ins2
TP53_g.11352G>A commonName G>A
TP53_g.11352G>A protEffect p.Asp41Asn
TP53_g.14042G>C commonName G>C
TP53_g.14042G>C protEffect p.Asp324His
TP53_g.17985_17986ins1 commonName ins1
TP53_g.12433T>G commonName T>G
TP53_g.12433T>G protEffect p.Ser149Ala
TP53_g.13407_13409del commonName del3
TP53_g.13819_13821del commonName del3
TP53_g.12400G>T commonName G>T
TP53_g.12400G>T protEffect p.Ala138Ser
TP53_g.11572_11573ins4 commonName ins4
TP53_g.11480G>C commonName G>C
TP53_g.11480G>C protEffect p.Ala83Ala
TP53_g.11480del commonName del1
TP53_g.12671_12672ins1 commonName ins1
TP53_g.13805del commonName del1
TP53_g.11587C>G commonName C>G
TP53_g.11587C>G protEffect p.Ala119Gly
TP53_g.13990A>T commonName A>T
TP53_g.11360del commonName del1
TP53_g.16884G>T commonName G>T
TP53_g.11444_11445del commonName del2
TP53_g.12727_12728ins2 commonName ins2
TP53_g.13999del commonName del1
TP53_g.13796_13797ins2 commonName ins2
TP53_g.12666del commonName del1
TP53_g.13848C>A commonName C>A
TP53_g.13848C>A protEffect p.Arg290Ser
TP53_g.12381C>A commonName C>A
TP53_g.12381C>A protEffect p.Asn131Lys
TP53_g.12374_12380del commonName del7
TP53_g.12439_12441del commonName del3
TP53_g.16966C>T commonName C>T
TP53_g.16966C>T protEffect p.Pro359Ser
TP53_g.13841_13842ins1 commonName ins1
TP53_g.14024C>G commonName C>G
TP53_g.14024C>G protEffect p.Pro318Ala
TP53_g.14051T>G commonName T>G
TP53_g.14051T>G protEffect p.Tyr327Asp
TP53_g.14006A>G commonName A>G
TP53_g.14006A>G protEffect p.Thr312Ala
TP53_g.16905_16906ins1 commonName ins1
TP53_g.11553G>T commonName G>T
TP53_g.11553G>T protEffect p.Gly108Cys
TP53_g.12373_12384del commonName del12
TP53_g.11409C>A commonName C>A
TP53_g.11409C>A protEffect p.Pro60Thr
TP53_g.11387_11388ins7 commonName ins7
TP53_g.16964A>T commonName A>T
TP53_g.16964A>T protEffect p.Glu358Val
TP53_g.16927G>T commonName G>T
TP53_g.16927G>T protEffect p.Glu346STOP
TP53_g.13775_13776delinsAA commonName GG>AA
TP53_g.13775_13776delinsAA protEffect G266R
TP53_g.12662_12663delinsGG commonName AA>GG
TP53_g.12662_12663delinsGG protEffect p.Glu198Gly
TP53_g.12675T>A commonName T>A
TP53_g.12675T>A protEffect p.Arg202Arg
TP53_g.14046G>T commonName G>T
TP53_g.14046G>T protEffect p.Gly325Val
TP53_g.13323G>T commonName G>T
TP53_g.13323G>T protEffect p.Cys229Phe
TP53_g.13824_13825delinsGA commonName CG>GA
TP53_g.13824_13825delinsGA protEffect p.Arg282Glu
TP53_g.11365T>C commonName T>C
TP53_g.11365T>C protEffect p.Leu45Pro
TP53_g.11588C>A commonName C>A
TP53_g.11588C>A protEffect p.Ala119Ala
TP53_g.11404C>T commonName C>T
TP53_g.11404C>T protEffect p.Pro58Leu
TP53_g.11458C>T commonName C>T
TP53_g.11458C>T protEffect p.Ala76Val
TP53_g.11452C>T commonName C>T
TP53_g.11452C>T protEffect p.Ala74Val
TP53_g.12486_12496del commonName del11
TP53_g.13843_13863del commonName del21
TP53_g.12489_12490ins2 commonName ins2
TP53_g.11445_11446del commonName del2
TP53_g.14033A>T commonName A>T
TP53_g.14033A>T protEffect p.Lys321STOP
TP53_g.11338C>A commonName C>A
TP53_g.11338C>A protEffect p.Pro36Gln
TP53_g.13314_13337del commonName del24
TP53_g.11215_11216ins1 commonName ins1
TP53_g.13895_13896delinsTA commonName GC>TA
TP53_g.13895_13896delinsTA protEffect K305N
TP53_g.13889C>T commonName C>T
TP53_g.13889C>T protEffect p.Ser303Ser
TP53_g.12663A>G commonName A>G
TP53_g.12663A>G protEffect p.Glu198Glu
TP53_g.12708A>T commonName A>T
TP53_g.12708A>T protEffect p.Arg213Arg
TP53_g.13993_13994del commonName del2
TP53_g.12456_12457del commonName del2
TP53_g.12635_12650del commonName del16
TP53_g.13409_13419del commonName del11
TP53_g.13763_13771del commonName del9
TP53_g.14036del commonName del1
TP53_g.13316_13333del commonName del18
TP53_g.14024C>T commonName C>T
TP53_g.14024C>T protEffect p.Pro318Ser
TP53_g.13894A>C commonName A>C
TP53_g.13894A>C protEffect p.Lys305Thr
TP53_g.13361_13376del commonName del16
TP53_g.12510_12527del commonName del18
TP53_g.11028_11029ins1 commonName ins1
TP53_g.11418G>C commonName G>C
TP53_g.11418G>C protEffect p.Ala63Pro
TP53_g.11455C>A commonName C>A
TP53_g.11455C>A protEffect p.Pro75His
TP53_g.17937_17938ins1 commonName ins1
TP53_g.11461C>A commonName C>A
TP53_g.11461C>A protEffect p.Pro77Gln
TP53_g.12707_12708ins1 commonName ins1
TP53_g.17986G>A commonName G>A
TP53_g.17986G>A protEffect p.Asp393Asn
TP53_g.13890_13892del commonName del3
TP53_g.13339_13340ins4 commonName ins4
TP53_g.11324A>G commonName A>G
TP53_g.13985T>A commonName T>A
TP53_g.12659T>C commonName T>C
TP53_g.12659T>C protEffect p.Val197Ala
TP53_g.12426G>T commonName G>T
TP53_g.12426G>T protEffect p.Trp146Cys
TP53_g.11604del commonName del1
TP53_g.11417del commonName del1
TP53_g.13771_13773del commonName del3
TP53_g.11544_11606del commonName del63
TP53_g.13357_13371del commonName del15
TP53_g.12689A>C commonName A>C
TP53_g.12689A>C protEffect p.Asp207Ala
TP53_g.12448_12456del commonName del9
TP53_g.16971_16972ins1 commonName ins1
TP53_g.12637_12638delinsAA commonName CC>AA
TP53_g.12637_12638delinsAA protEffect p.Pro190Asn
TP53_g.12487C>G commonName C>G
TP53_g.12487C>G protEffect p.Gln167Glu
TP53_g.11592T>A commonName T>A
TP53_g.11592T>A protEffect p.Ser121Thr
TP53_g.11451G>C commonName G>C
TP53_g.11451G>C protEffect p.Ala74Pro
TP53_g.11599_11606del commonName del8
TP53_g.16930G>C commonName G>C
TP53_g.16930G>C protEffect p.Ala347Pro
TP53_g.13886_13887ins8 commonName ins8
TP53_g.16945G>T commonName G>T
TP53_g.16945G>T protEffect p.Asp352Tyr
TP53_g.14052A>G commonName A>G
TP53_g.14052A>G protEffect p.Tyr327Cys
TP53_g.11409C>G commonName C>G
TP53_g.11409C>G protEffect p.Pro60Ala
TP53_g.12496_12502del commonName del7
TP53_g.11410C>G commonName C>G
TP53_g.11410C>G protEffect p.Pro60Arg
TP53_g.12668_12669del commonName del2
TP53_g.11545G>C commonName G>C
TP53_g.11545G>C protEffect p.Gly105Ala
TP53_g.11206A>G commonName A>G
TP53_g.11206A>G protEffect p.Glu28Glu
TP53_g.14007del commonName del1
TP53_g.11521_11525del commonName del5
TP53_g.13992C>T commonName C>T
TP53_g.13992C>T protEffect p.Ala307Val
TP53_g.12405_12406del commonName del2
TP53_g.14044del commonName del1
TP53_g.14062del commonName del1
TP53_g.14063C>G commonName C>G
TP53_g.14063C>G protEffect p.Gln331Glu
TP53_g.14063_14254del commonName del192
TP53_g.11480_11801del commonName del322
TP53_g.13832_13838del commonName del7
TP53_g.16944G>T commonName G>T
TP53_g.16944G>T protEffect p.Lys351Asn
TP53_g.12471_12473del commonName del3
TP53_g.13379_13390del commonName del12
TP53_g.11606_11616del commonName del11
TP53_g.12671del commonName del1
TP53_g.11202del commonName del1
TP53_g.11397del commonName del1
TP53_g.11522_11526del commonName del5
TP53_g.12407del commonName del1
TP53_g.12452_12469del commonName del18
TP53_g.12522_12526del commonName del5
TP53_g.12662_12670del commonName del9
TP53_g.13350_13361del commonName del12
TP53_g.14055_14056ins1 commonName ins1
TP53_g.16909A>G commonName A>G
TP53_g.16909A>G protEffect p.Met340Val
TP53_g.16905_16908del commonName del4
TP53_g.16909_16911del commonName del3
TP53_g.13780_13781delinsCT commonName GG>CT
TP53_g.13780_13781delinsCT protEffect p.Arg267Pro
TP53_g.11011G>A commonName G>A
TP53_g.11011G>A protEffect p.Glu2Glu
TP53_g.11339G>A commonName G>A
TP53_g.11339G>A protEffect p.Pro36Pro
TP53_g.11352_11355del commonName del4
TP53_g.11552del commonName del1
TP53_g.13763del commonName del1
TP53_g.13790_13791delinsA commonName TG>A
TP53_g.16889_16890del commonName del2
TP53_g.13868_13869ins5 commonName ins5
TP53_g.13771_13772del commonName del2
TP53_g.12650_12669del commonName del20
TP53_g.12438_12439del commonName del2
TP53_g.11524_11554del commonName del31
TP53_g.13849_13850ins1 commonName ins1
TP53_g.11544_11552del commonName del9
TP53_g.11551_11552ins7 commonName ins7
TP53_g.11605_11624del commonName del20
TP53_g.13863_13875del commonName del13
TP53_g.12374_12376del commonName del3
TP53_g.11366_11367ins2 commonName ins2
TP53_g.11506_11622del commonName del117
TP53_g.11408_11471del commonName del64
TP53_g.17909G>A commonName G>A
TP53_g.11548_11557del commonName del10
TP53_g.11370del commonName del1
TP53_g.13998C>T commonName C>T
TP53_g.13998C>T protEffect p.Pro309Leu
TP53_g.11491C>T commonName C>T
TP53_g.11491C>T protEffect p.Pro87Leu
TP53_g.12423del commonName del1
TP53_g.12685T>C commonName T>C
TP53_g.12685T>C protEffect p.Leu206Leu
TP53_g.11395C>T commonName C>T
TP53_g.11395C>T protEffect p.Thr55Ile
TP53_g.14048G>A commonName G>A
TP53_g.14048G>A protEffect p.Glu326Lys
TP53_g.11553_11564delinsATTCAG commonName 11553
TP53_g.12614_12624del commonName 12614
TP53_g.14916_17271del commonName 14916
TP53_g.12714del commonName 12714
TP53_g.12640_12641del commonName 12640
TP53_g.12711_12712ins6 commonName 12712
TP53_g.13390C>G commonName 13390
TP53_g.13390C>G protEffect p.Ile251Met
TP53_g.13271G>A commonName 13271
TP53_g.12362_12363ins1 commonName 12363
TP53_g.12806_12807ins2 commonName 12807
TP53_g.11081_11247del commonName 11081
TP53_g.11502del commonName 11502
TP53_g.13824_13831del commonName 13824
TP53_g.14066del commonName 14066
TP53_g.12469_12470ins7 commonName 12470
TP53_g.12687_12693del commonName 12687
TP53_g.12618_12628del commonName 12618
TP53_g.13878_13879ins4 commonName 13879
TP53_g.14023G>C commonName 14023
TP53_g.14023G>C protEffect p.Gln317His
TP53_g.14033A>G commonName 14033
TP53_g.14033A>G protEffect p.Lys321Glu
TP53_g.11317C>G commonName 11317
TP53_g.16967C>T commonName 16967
TP53_g.16967C>T protEffect p.Pro359Leu
TP53_g.17750G>A commonName 17750
TP53_g.17401G>A commonName 17401
TP53_g.16897_16898ins6 commonName 16898
TP53_g.11517_11519del commonName 11517
TP53_g.16929_16931del commonName 16929
TP53_g.12483_12484ins3 commonName 12484
TP53_g.17940del commonName 17940
TP53_g.12705del commonName 12705
TP53_g.11381T>A commonName 11381
TP53_g.11381T>A protEffect p.Ile50Ile
TP53_g.12712_12729del commonName 12712
TP53_g.11068C>T commonName 11068
TP53_g.11068C>T protEffect p.Asp21Asp
TP53_g.12497_12500del commonName 12497
TP53_g.13798_13807del commonName 13798
TP53_g.11559_11560ins7 commonName 11560
TP53_g.12470_12475del commonName 12470
TP53_g.7830A>T commonName 7830
TP53_g.17908A>G commonName 17908
IPNMDB_397 phenoCommon ALS4 / distal HMN with pyramidal tract signs
IPNMDB_397 commonName c.8C>T
IPNMDB_397 alias Thr3Ile
IPNMDB_398 phenoCommon ALS4 / distal HMN with pyramidal tract signs
IPNMDB_398 commonName c.1166T>C
IPNMDB_398 alias Leu389Ser
IPNMDB_399 phenoCommon ALS4 / distal HMN with pyramidal tract signs
IPNMDB_399 commonName c.6407G>A
IPNMDB_399 alias Arg2136His
IPNMDB_951 phenoCommon HSN I
IPNMDB_951 commonName c.196G>C
IPNMDB_951 alias Glu66Gln
IPNMDB_952 phenoCommon HSN I
IPNMDB_952 commonName c.976delG
IPNMDB_952 alias Val326fs
IPNMDB_950 phenoCommon HSN I
IPNMDB_950 commonName c.1065C>A
IPNMDB_950 alias Asn355Lys
IPNMDB_380 phenoCommon dHMN / Silver syndrome (SPG17)
IPNMDB_380 commonName c.263A>G
IPNMDB_380 alias Asn88Ser
IPNMDB_381 phenoCommon dHMN / Silver syndrome (SPG17)
IPNMDB_381 commonName c.269C>T
IPNMDB_381 alias Ser90Leu
IPNMDB_954 phenoCommon HSN with spastic paraplegia
IPNMDB_954 commonName c.440A>G
IPNMDB_954 alias [His147Arg]+[His147Arg]
IPNMDB_360 phenoCommon congentital cataracts facial dysmorphism neuropathy syndrome
IPNMDB_360 commonName c.863+389C>T
IPNMDB_360 alias Leu287fs
IPNMDB_643 phenoCommon dHMN with vocal fold paralysis
IPNMDB_643 commonName c.175G>A
IPNMDB_643 alias Gly59Ser
IPNMDB_885 phenoCommon centronuclear myopathy + PNS (CMT2) + CNS abnormalies
IPNMDB_885 commonName c.1102G>C
IPNMDB_885 alias Glu368Gln
IPNMDB_886 phenoCommon CMT2
IPNMDB_886 commonName c.1597G>T
IPNMDB_886 alias Gly533Cys
IPNMDB_729 phenoCommon CMT1/2
IPNMDB_729 commonName c.1652_1659+1delATGAGGAGg
IPNMDB_729 alias Asp551_Glu553del; Asp551fs
IPNMDB_730 phenoCommon CMT1/2
IPNMDB_730 commonName c.1672_1674delAAG
IPNMDB_730 alias Lys558del
IPNMDB_731 phenoCommon CMT1/2
IPNMDB_731 commonName c.1672A>G
IPNMDB_731 alias Lys558Glu
IPNMDB_887 phenoCommon CMT2
IPNMDB_887 commonName c.1697T>A
IPNMDB_887 alias Leu566His
IPNMDB_281 phenoCommon CH
IPNMDB_281 commonName c.803T>A
IPNMDB_281 alias [Ile268Asn]+[Ile268Asn]
IPNMDB_334 phenoCommon CMT1-severe
IPNMDB_334 commonName c.1064A>T
IPNMDB_334 alias Asp355Val
IPNMDB_282 phenoCommon DSS (plus cranial nerve involvement)/CMT1
IPNMDB_282 commonName c.1075C>T
IPNMDB_282 alias Arg359Trp
IPNMDB_815 phenoCommon CMT1 + progressive scoliosis
IPNMDB_815 commonName c.1076G>A
IPNMDB_815 alias Arg359Gln
IPNMDB_286 phenoCommon - (polymorphism)
IPNMDB_286 commonName c.1086A>C
IPNMDB_286 alias Arg362Arg
IPNMDB_487 phenoCommon CMT1
IPNMDB_487 commonName c.1141C>T
IPNMDB_487 alias Arg381Cys
IPNMDB_335 phenoCommon CMT1 (+ cranial nerve involvement)
IPNMDB_335 commonName c.1142G>A
IPNMDB_335 alias Arg381His
IPNMDB_283 phenoCommon CH
IPNMDB_283 commonName c.[1146T>G;1147G>T]
IPNMDB_283 alias [Ser382Arg; Asp383Tyr]
IPNMDB_36 phenoCommon DSS
IPNMDB_36 commonName c.1147G>T
IPNMDB_36 alias Asp383Tyr
IPNMDB_284 phenoCommon CMT1
IPNMDB_284 commonName c.1225C>T
IPNMDB_284 alias Arg409Trp
IPNMDB_923 phenoCommon DSS
IPNMDB_923 commonName c.1234G>A
IPNMDB_923 alias Glu412Lys
IPNMDB_379 phenoCommon unspecified CMT
IPNMDB_379 commonName c.1352G>T
IPNMDB_379 alias Gly451Val
IPNMDB_949 phenoCommon HSN II
IPNMDB_949 commonName c.873+2T>C
IPNMDB_949 alias [5'-splice site]+[5'-splice site]
IPNMDB_926 phenoCommon CMT4H
IPNMDB_926 commonName c.670C>T
IPNMDB_926 alias [Arg224X]+[Arg224X]
IPNMDB_930 phenoCommon CMT4H
IPNMDB_930 commonName c.893T>C
IPNMDB_930 alias [Met298Thr]+[Met298Thr]
IPNMDB_927 phenoCommon CMT4H
IPNMDB_927 commonName c.893T>G
IPNMDB_927 alias [Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs]
IPNMDB_928 phenoCommon CMT4H
IPNMDB_928 commonName c.1628_1629delAG
IPNMDB_928 alias [Glu543fs]+[Glu543fs]
IPNMDB_929 phenoCommon CMT4H
IPNMDB_929 commonName c.1756G>T
IPNMDB_929 alias [Gly586X]+[Gly586X]
IPNMDB_932 phenoCommon CMT4J
IPNMDB_932 commonName c.[122T>C]+[294delT]
IPNMDB_932 alias [Ile41Thr]+[Phe98fs]
IPNMDB_934 phenoCommon CMT4J
IPNMDB_934 commonName c.[122T>C]+[759delG]
IPNMDB_934 alias [Ile41Thr]+[Gly253fs]
IPNMDB_935 phenoCommon CMT4J
IPNMDB_935 commonName c.[122T>C]+[1043_1050delATCAGGCA]
IPNMDB_935 alias [Ile41Thr]+[Asp348fs]
IPNMDB_474 phenoCommon GAN
IPNMDB_474 commonName c.18_19insA
IPNMDB_474 alias [Val7fs]+[Val7fs]
IPNMDB_679 phenoCommon GAN
IPNMDB_679 commonName c.[20_57del38]+[896A>C]
IPNMDB_679 alias [Val7fs]+[Tyr299Cys]
IPNMDB_472 phenoCommon GAN
IPNMDB_472 commonName c.43C>A
IPNMDB_472 alias [Arg15Ser]+[Arg15Ser]
IPNMDB_678 phenoCommon GAN
IPNMDB_678 commonName c.[145G>A]+[944C>T]
IPNMDB_678 alias [Ala49Thr]+[Pro315Leu]
IPNMDB_909 phenoCommon GAN
IPNMDB_909 commonName c.151G>C
IPNMDB_909 alias [Ala51Pro]+[Ala51Pro]
IPNMDB_480 phenoCommon GAN
IPNMDB_480 commonName c.[154A>G]+[1179T>A]
IPNMDB_480 alias [Ser52Gly]+[Cys393X]
IPNMDB_903 phenoCommon GAN
IPNMDB_903 commonName c.168-1G>A
IPNMDB_903 alias [Arg56fs]+[Arg56fs]
IPNMDB_911 phenoCommon GAN
IPNMDB_911 commonName c.213T>A
IPNMDB_911 alias [Tyr71X]+[Tyr71X]
IPNMDB_481 phenoCommon GAN (mut. in 2nd allele unknown)
IPNMDB_481 commonName c.[236C>T]+[?]
IPNMDB_481 alias [Ser79Leu]+[?]
IPNMDB_476 phenoCommon GAN (mut. in 2nd allele unknown)
IPNMDB_476 commonName c.[244G>T]+[?]
IPNMDB_476 alias [Val82Phe]+[?]
IPNMDB_652 phenoCommon GAN
IPNMDB_652 commonName c.[256A>T]+[340_357delCTGACGGACCTTAAAACC]
IPNMDB_652 alias [Ile86Phe]+[Leul114_Thr119del]
IPNMDB_902 phenoCommon GAN
IPNMDB_902 commonName c.[266A>G]+[1102G>A]
IPNMDB_902 alias [Tyr89Cys]+[Gly368Arg]
IPNMDB_482 phenoCommon GAN
IPNMDB_482 commonName c.413G>A
IPNMDB_482 alias [Arg138His]+[Arg138His]
IPNMDB_906 phenoCommon GAN
IPNMDB_906 commonName c.[583G>T]+[633+1G>T]
IPNMDB_906 alias [Val195Phe]+[5'-splice site mutation]
IPNMDB_569 phenoCommon GAN
IPNMDB_569 commonName c.[601C>T]+[1268T>C]
IPNMDB_569 alias [Arg201X]+[Ile423Thr]
IPNMDB_649 phenoCommon GAN
IPNMDB_649 commonName c.724C>T
IPNMDB_649 alias [Arg242X]+[Arg242X]
IPNMDB_483 phenoCommon GAN
IPNMDB_483 commonName c.806G>A
IPNMDB_483 alias Arg269Gln
IPNMDB_836 phenoCommon GAN
IPNMDB_836 commonName c.877C>T
IPNMDB_836 alias [Arg293X]+[Arg293X]
IPNMDB_479 phenoCommon GAN
IPNMDB_479 commonName c.[877C>T]+[1709G>A]
IPNMDB_479 alias [Arg293X]+[Cys570Tyr]
IPNMDB_908 phenoCommon GAN
IPNMDB_908 commonName c.[944C>T]+[1553_1554delTT]
IPNMDB_908 alias [Pro315Leu]+[Phe518fs]
IPNMDB_677 phenoCommon GAN
IPNMDB_677 commonName c.[1086+1G>C]+[1529T>G]
IPNMDB_677 alias [5'-splice site]+[Leu510X]
IPNMDB_484 phenoCommon - (polymorphism)
IPNMDB_484 commonName c.1086+71C>T
IPNMDB_648 phenoCommon GAN
IPNMDB_648 commonName c.1102G>A
IPNMDB_648 alias [Gly368Arg]+[Gly368Arg]
IPNMDB_477 phenoCommon GAN
IPNMDB_477 commonName c.[1203G>A]+[1456G>A]
IPNMDB_477 alias [Trp401X]+[Glu486Lys]
IPNMDB_485 phenoCommon - (polymorphism)
IPNMDB_485 commonName c.1293T>C
IPNMDB_485 alias Tyr431Tyr
IPNMDB_904 phenoCommon GAN
IPNMDB_904 commonName c.[1420G>C]+[1429C>T]
IPNMDB_904 alias [Gly474Arg]+[Arg477X]
IPNMDB_650 phenoCommon GAN
IPNMDB_650 commonName c.1429C>T
IPNMDB_650 alias [Arg477X]+[Arg477X]
IPNMDB_475 phenoCommon GAN
IPNMDB_475 commonName c.1447C>T
IPNMDB_475 alias [Gln483X]+[Gln483X]
IPNMDB_473 phenoCommon GAN
IPNMDB_473 commonName c.1456G>A
IPNMDB_473 alias [Glu486Lys]+[Glu486Lys]
IPNMDB_837 phenoCommon GAN
IPNMDB_837 commonName c.1502+1G>T
IPNMDB_837 alias 5'-splice site mutation
IPNMDB_910 phenoCommon GAN
IPNMDB_910 commonName c.1505G>A
IPNMDB_910 alias [Trp502X]+[Trp502X]
IPNMDB_478 phenoCommon GAN
IPNMDB_478 commonName c.1633C>T
IPNMDB_478 alias [Arg545Cys]+[Arg545Cys]
IPNMDB_905 phenoCommon GAN
IPNMDB_905 commonName c.1634G>A
IPNMDB_905 alias [Arg545His]+[Arg545His]
IPNMDB_676 phenoCommon GAN
IPNMDB_676 commonName c.1684C>G
IPNMDB_676 alias [Pro562Ala]+[Pro562Ala]
IPNMDB_920 phenoCommon dHMN V + ptosis
IPNMDB_920 commonName c.170C>T
IPNMDB_920 alias Ala57Val
IPNMDB_655 phenoCommon CMT2 / dHMN V
IPNMDB_655 commonName c.212A>G
IPNMDB_655 alias Glu71Gly
IPNMDB_656 phenoCommon dHMN V
IPNMDB_656 commonName c.385C>T
IPNMDB_656 alias Leu129Pro
IPNMDB_657 phenoCommon CMT2
IPNMDB_657 commonName c.718G>C
IPNMDB_657 alias Gly240Arg
IPNMDB_829 phenoCommon dHMN V
IPNMDB_829 commonName c.838A>T
IPNMDB_829 alias Ile280Phe
IPNMDB_825 phenoCommon dHMN V
IPNMDB_825 commonName c.1253A>G
IPNMDB_825 alias His418Arg
IPNMDB_826 phenoCommon CMT2 / dHMN
IPNMDB_826 commonName c.1498G>A
IPNMDB_826 alias Asp500Asn
IPNMDB_658 phenoCommon dHMN V
IPNMDB_658 commonName c.1576G>C
IPNMDB_658 alias Gly526Arg
IPNMDB_828 phenoCommon CMT2
IPNMDB_828 commonName c.1742C>T
IPNMDB_828 alias Ser581Leu
IPNMDB_564 phenoCommon CMT4A
IPNMDB_564 commonName c.92G>A
IPNMDB_564 alias [Trp31X]+[Trp31X]
IPNMDB_752 phenoCommon CMT2
IPNMDB_752 commonName c.[311-1G>A]+[389C>G]
IPNMDB_752 alias [3'-splice site mutation]+[Ser130Cys]
IPNMDB_671 phenoCommon CMT2
IPNMDB_671 commonName c.[341_344delAAAG]+[487C>T]
IPNMDB_671 alias [Glu114fs]+[Gln163X]
IPNMDB_367 phenoCommon CMT4A
IPNMDB_367 commonName c.[341_344delAAAG]+[715C>T]
IPNMDB_367 alias [Glu114fs]+[Leu239Phe]
IPNMDB_812 phenoCommon CMT2
IPNMDB_812 commonName c.347T>C
IPNMDB_812 alias [Met116Thr]+[Met116Thr]
IPNMDB_732 phenoCommon CMT4A (+pyramidal features)
IPNMDB_732 commonName c.347T>G
IPNMDB_732 alias [Met116Arg]+[Met116Arg]
IPNMDB_611 phenoCommon CMT4A
IPNMDB_611 commonName c.349_350insT
IPNMDB_611 alias [Tyr117fs]+[Tyr117fs]
IPNMDB_672 phenoCommon CMT2
IPNMDB_672 commonName c.358C>T
IPNMDB_672 alias Arg120Trp
IPNMDB_368 phenoCommon CMT4A
IPNMDB_368 commonName c.[358C>T]+[811G>A]
IPNMDB_368 alias [Arg120Trp]+[Gly271Arg]
IPNMDB_642 phenoCommon DSS + vocal cord paresis + facial weakness
IPNMDB_642 commonName c.359G>A
IPNMDB_642 alias [Arg120Gln]+[Arg120Gln]
IPNMDB_874 phenoCommon CMT4A
IPNMDB_874 commonName c.439delA
IPNMDB_874 alias [Thr147fs]+[Thr147fs]
IPNMDB_734 phenoCommon CMT4A
IPNMDB_734 commonName c.445G>T
IPNMDB_734 alias [Asp149Tyr]+[Asp149Tyr]
IPNMDB_900 phenoCommon CMT2 + hoarseness
IPNMDB_900 commonName c.458C>T
IPNMDB_900 alias [Pro153Leu]+[Pro153Leu]
IPNMDB_673 phenoCommon CMT2
IPNMDB_673 commonName c.469A>C
IPNMDB_673 alias Thr157Pro
IPNMDB_566 phenoCommon CMT4A
IPNMDB_566 commonName c.482G>A
IPNMDB_566 alias [Arg161His]+[Arg161His]
IPNMDB_366 phenoCommon CMT4A
IPNMDB_366 commonName c.485-2A>G
IPNMDB_366 alias [Ser162fsX166]+[Ser162fsX166]
IPNMDB_561 phenoCommon CMT2 / DSS (+ vocal cord paresis + facial weakness)
IPNMDB_561 commonName c.487C>T
IPNMDB_561 alias [Gln163X]+[Gln163X]
IPNMDB_562 phenoCommon CMT2 with vocal cord paresis
IPNMDB_562 commonName c.[487C>T]+[581C>G]
IPNMDB_562 alias [Gln163X]+[Ser194X]
IPNMDB_612 phenoCommon - (polymorphism)
IPNMDB_612 commonName c.507T>G
IPNMDB_612 alias Ser169Ser
IPNMDB_875 phenoCommon CMT4A
IPNMDB_875 commonName c.[571C>T]+[715C>T]
IPNMDB_875 alias [Arg191X]+[Leu239Phe]
IPNMDB_613 phenoCommon CMT4A
IPNMDB_613 commonName c.579+1G>A
IPNMDB_613 alias [5'-splice site]+[5'-splice site]
IPNMDB_674 phenoCommon CMT2 + vocal cord and diaphragm paralysis
IPNMDB_674 commonName c.558delT
IPNMDB_674 alias [Ile186fs]+[Ile186fs]
IPNMDB_565 phenoCommon CMT4A
IPNMDB_565 commonName c.581C>G
IPNMDB_565 alias [Ser194X]+[Ser194X]
IPNMDB_361 phenoCommon CMT2 (+vocal cord and diaphragm paresis)
IPNMDB_361 commonName c.[581C>G]+[929G>A]
IPNMDB_361 alias [Ser194X]+[Arg310Gln]
IPNMDB_365 phenoCommon CMT4A
IPNMDB_365 commonName c.668T>A
IPNMDB_365 alias [Leu223X]+[Leu223X]
IPNMDB_813 phenoCommon CMT4A
IPNMDB_813 commonName c.715C>T
IPNMDB_813 alias [Leu239Phe]+[Leu239Phe]
IPNMDB_609 phenoCommon CMT4A
IPNMDB_609 commonName c.786delG
IPNMDB_609 alias [Gly262fs]+[Gly262fs]
IPNMDB_610 phenoCommon CMT4A
IPNMDB_610 commonName c.844C>T
IPNMDB_610 alias [Arg282Cys]+[Arg282Cys]
IPNMDB_104 phenoCommon CMT1X
IPNMDB_104 commonName c.7T>C
IPNMDB_104 alias Trp3Arg
IPNMDB_288 commonName c.8G>A
IPNMDB_288 alias Trp3X
IPNMDB_105 phenoCommon CMT1X
IPNMDB_105 commonName c.8G>C
IPNMDB_105 alias Trp3Ser
IPNMDB_466 phenoCommon CMT1X
IPNMDB_466 commonName c.9G>A
IPNMDB_466 alias Trp3X
IPNMDB_616 phenoCommon CMT1X
IPNMDB_616 commonName c.20_22delACA
IPNMDB_616 alias Tyr7_Thr8delinsSer
IPNMDB_106 phenoCommon CMT1X
IPNMDB_106 commonName c.20A>G
IPNMDB_106 alias Tyr7Cys
IPNMDB_107 phenoCommon CMT1X
IPNMDB_107 commonName c.22A>C
IPNMDB_107 alias Thr8Pro
IPNMDB_289 phenoCommon CMT1X
IPNMDB_289 commonName c.26T>G
IPNMDB_289 alias Leu9Trp
IPNMDB_681 phenoCommon CMT1X
IPNMDB_681 commonName c.27G>T
IPNMDB_681 alias Leu9Phe
IPNMDB_628 phenoCommon - (polymorphism)
IPNMDB_628 commonName c.30C>T
IPNMDB_628 alias Leu10Leu
IPNMDB_108 phenoCommon CMT1X
IPNMDB_108 commonName c.31A>G
IPNMDB_108 alias Ser11Gly
IPNMDB_109 phenoCommon CMT1X
IPNMDB_109 commonName c.34G>A
IPNMDB_109 alias Gly12Ser
IPNMDB_290 phenoCommon - (polymorphism)
IPNMDB_290 commonName c.36C>T
IPNMDB_290 alias Gly12Gly
IPNMDB_111 phenoCommon CMT1X
IPNMDB_111 commonName c.37G>A
IPNMDB_111 alias Val13Met
IPNMDB_110 phenoCommon CMT1X
IPNMDB_110 commonName c.37G>T
IPNMDB_110 alias Val13Leu
IPNMDB_378 phenoCommon unspecified CMT
IPNMDB_378 commonName c.43delC
IPNMDB_378 alias Arg15fs
IPNMDB_114 phenoCommon CMT1X
IPNMDB_114 commonName c.43C>T
IPNMDB_114 alias Arg15Trp
IPNMDB_113 phenoCommon CMT1X
IPNMDB_113 commonName c.44G>A
IPNMDB_113 alias Arg15Gln
IPNMDB_115 phenoCommon CMT1X
IPNMDB_115 commonName c.47A>C
IPNMDB_115 alias His16Pro
IPNMDB_345 phenoCommon CMT1
IPNMDB_345 commonName c.[59T>A;61G>A]
IPNMDB_345 alias [Ile20Asn;Gly21Ser]
IPNMDB_116 phenoCommon CMT1X
IPNMDB_116 commonName c.59T>G
IPNMDB_116 alias Ile20Ser
IPNMDB_117 phenoCommon CMT1X
IPNMDB_117 commonName c.62G>A
IPNMDB_117 alias Gly21Asp
IPNMDB_119 phenoCommon CMT1X
IPNMDB_119 commonName c.64C>G
IPNMDB_119 alias Arg22Gly
IPNMDB_121 phenoCommon CMT1X
IPNMDB_121 commonName c.64C>T
IPNMDB_121 alias Arg22X
IPNMDB_118 phenoCommon CMT1X
IPNMDB_118 commonName c.65G>A
IPNMDB_118 alias Arg22Gln
IPNMDB_122 phenoCommon CMT1X
IPNMDB_122 commonName c.[65G>A;187G>A]
IPNMDB_122 alias [Arg22Gln;Val63Ile]
IPNMDB_120 phenoCommon CMT1X
IPNMDB_120 commonName c.65G>C
IPNMDB_120 alias Arg22Pro
IPNMDB_349 phenoCommon CMT1/2
IPNMDB_349 commonName c.68T>A
IPNMDB_349 alias Val23Glu
IPNMDB_123 phenoCommon CMT1X
IPNMDB_123 commonName c.68T>C
IPNMDB_123 alias Val23Ala
IPNMDB_584 phenoCommon CMT1X + CNS involvement
IPNMDB_584 commonName c.72G>T
IPNMDB_584 alias Trp24Cys
IPNMDB_124 phenoCommon CMT1X
IPNMDB_124 commonName c.73C>T
IPNMDB_124 alias Leu25Phe
IPNMDB_532 phenoCommon CMT1
IPNMDB_532 commonName c.74T>C
IPNMDB_532 alias Leu25Pro
IPNMDB_126 phenoCommon CMT1X
IPNMDB_126 commonName c.77C>A
IPNMDB_126 alias Ser26X
IPNMDB_491 phenoCommon CMT1X
IPNMDB_491 commonName c.77C>G
IPNMDB_491 alias Ser26Trp
IPNMDB_125 phenoCommon CMT1X
IPNMDB_125 commonName c.77C>T
IPNMDB_125 alias Ser26Leu
IPNMDB_127 phenoCommon CMT1X
IPNMDB_127 commonName c.83T>A
IPNMDB_127 alias Ile28Asn
IPNMDB_128 phenoCommon CMT1X
IPNMDB_128 commonName c.83T>C
IPNMDB_128 alias Ile28Thr
IPNMDB_130 phenoCommon CMT1X
IPNMDB_130 commonName c.85T>C
IPNMDB_130 alias Phe29Leu
IPNMDB_292 commonName c.88A>T
IPNMDB_292 alias Ile30Phe
IPNMDB_131 phenoCommon CMT1X
IPNMDB_131 commonName c.89T>A
IPNMDB_131 alias Ile30Asn
IPNMDB_293 phenoCommon CMT1X
IPNMDB_293 commonName c.89T>C
IPNMDB_293 alias Ile30Thr
IPNMDB_291 commonName c.90C>G
IPNMDB_291 alias Ile30Met
IPNMDB_129 phenoCommon CMT1X
IPNMDB_129 commonName c.94_95insTCTTCA
IPNMDB_129 alias Phe31_Arg32insIlePhe
IPNMDB_133 phenoCommon CMT1X
IPNMDB_133 commonName c.100A>G
IPNMDB_133 alias Met34Val
IPNMDB_344 phenoCommon CMT1/2
IPNMDB_344 commonName c.101T>A
IPNMDB_344 alias Met34Lys
IPNMDB_132 phenoCommon CMT1X
IPNMDB_132 commonName c.101T>C
IPNMDB_132 alias Met34Thr
IPNMDB_294 commonName c.102G>A
IPNMDB_294 alias Met34Ile
IPNMDB_134 phenoCommon CMT1X
IPNMDB_134 commonName c.103G>A
IPNMDB_134 alias Val35Met
IPNMDB_135 phenoCommon CMT1X
IPNMDB_135 commonName c.109G>A
IPNMDB_135 alias Val37Met
IPNMDB_136 phenoCommon CMT1X
IPNMDB_136 commonName c.112G>A
IPNMDB_136 alias Val38Met
IPNMDB_742 phenoCommon CMT1X + hearing loss
IPNMDB_742 commonName c.113T>C
IPNMDB_742 alias Val38Ala
IPNMDB_738 phenoCommon CMT1X
IPNMDB_738 commonName c.114_115insC
IPNMDB_738 alias Ala39fs
IPNMDB_137 phenoCommon CMT1X
IPNMDB_137 commonName c.115G>C
IPNMDB_137 alias Ala39Pro
IPNMDB_925 phenoCommon CMT
IPNMDB_925 commonName c.115delG
IPNMDB_925 alias Ala39fs
IPNMDB_138 phenoCommon CMT1X (+ CNS involvement)
IPNMDB_138 commonName c.116C>T
IPNMDB_138 alias Ala39Val
IPNMDB_739 phenoCommon CMT1X
IPNMDB_739 commonName c.118G>A
IPNMDB_739 alias Ala40Thr
IPNMDB_139 phenoCommon CMT1X
IPNMDB_139 commonName c.119C>T
IPNMDB_139 alias Ala40Val
IPNMDB_140 phenoCommon CMT1X
IPNMDB_140 commonName c.121G>A
IPNMDB_140 alias Glu41Lys
IPNMDB_833 phenoCommon CMT1X + CNS involvement
IPNMDB_833 commonName c.123G>C
IPNMDB_833 alias Glu41Asp
IPNMDB_141 phenoCommon CMT1X
IPNMDB_141 commonName c.124delA
IPNMDB_141 alias Ser42fs
IPNMDB_142 phenoCommon CMT1X
IPNMDB_142 commonName c.127G>A
IPNMDB_142 alias Val43Met
IPNMDB_295 commonName c.131G>A
IPNMDB_295 alias Trp44X
IPNMDB_143 phenoCommon CMT1X
IPNMDB_143 commonName c.131G>T
IPNMDB_143 alias Trp44Leu
IPNMDB_438 phenoCommon CMT1X
IPNMDB_438 commonName c.132G>A
IPNMDB_438 alias Trp44X
IPNMDB_917 phenoCommon CMT1
IPNMDB_917 commonName c.137A>G
IPNMDB_917 alias Asp46Gly
IPNMDB_880 phenoCommon CMT1
IPNMDB_880 commonName c.140A>G
IPNMDB_880 alias Glu47Gly
IPNMDB_577 phenoCommon CMT1X
IPNMDB_577 commonName c.145T>C
IPNMDB_577 alias Ser49Pro
IPNMDB_144 phenoCommon CMT2
IPNMDB_144 commonName c.146C>A
IPNMDB_144 alias Ser49Tyr
IPNMDB_145 phenoCommon CMT1X
IPNMDB_145 commonName c.148T>C
IPNMDB_145 alias Ser50Pro
IPNMDB_296 commonName c.153C>A
IPNMDB_296 alias Phe51Leu
IPNMDB_146 phenoCommon CMT1X
IPNMDB_146 commonName c.158G>C
IPNMDB_146 alias Cys53Ser
IPNMDB_685 phenoCommon CMT
IPNMDB_685 commonName c.163A>G
IPNMDB_685 alias Thr55Ala
IPNMDB_579 phenoCommon CMT1X + CNS involvement
IPNMDB_579 commonName c.164C>G
IPNMDB_579 alias Thr55Arg
IPNMDB_147 phenoCommon CMT1X
IPNMDB_147 commonName c.164C>T
IPNMDB_147 alias Thr55Ile
IPNMDB_148 phenoCommon CMT1X
IPNMDB_148 commonName c.166C>T
IPNMDB_148 alias Leu56Phe
IPNMDB_149 phenoCommon CMT1X
IPNMDB_149 commonName c.171G>C
IPNMDB_149 alias Gln57His
IPNMDB_150 phenoCommon CMT1X
IPNMDB_150 commonName c.173C>G
IPNMDB_150 alias Pro58Arg
IPNMDB_297 phenoCommon CMT1X
IPNMDB_297 commonName c.175G>C
IPNMDB_297 alias Gly59Arg
IPNMDB_151 phenoCommon CMT1X
IPNMDB_151 commonName c.175G>T
IPNMDB_151 alias Gly59Cys
IPNMDB_299 commonName c.178T>A
IPNMDB_299 alias Cys60Ser
IPNMDB_298 commonName c.178T>C
IPNMDB_298 alias Cys60Arg
IPNMDB_152 phenoCommon CMT1X
IPNMDB_152 commonName c.179G>T
IPNMDB_152 alias Cys60Phe
IPNMDB_572 phenoCommon CMT1X (+ CNS involvement)
IPNMDB_572 commonName c.184_185insCACTCCAGCCTGGCTGCAACA
IPNMDB_572 alias Asn61_Ser62insTyrLeuGlnProGlyCysAsn
IPNMDB_153 phenoCommon CMT1X (+ deafness)
IPNMDB_153 commonName c.187G>A
IPNMDB_153 alias Val63Ile
IPNMDB_154 phenoCommon CMT1X
IPNMDB_154 commonName c.191G>C
IPNMDB_154 alias Cys64Ser
IPNMDB_492 phenoCommon CMT1X
IPNMDB_492 commonName c.191G>T
IPNMDB_492 alias Cys64Phe
IPNMDB_465 phenoCommon CMT1X
IPNMDB_465 commonName c.193T>C
IPNMDB_465 alias Tyr65His
IPNMDB_155 phenoCommon CMT1X
IPNMDB_155 commonName c.194A>G
IPNMDB_155 alias Tyr65Cys
IPNMDB_156 phenoCommon CMT1X
IPNMDB_156 commonName c.196_198delGAC
IPNMDB_156 alias Asp66del
IPNMDB_300 phenoCommon CMT2
IPNMDB_300 commonName c.205T>C
IPNMDB_300 alias Phe69Leu
IPNMDB_301 phenoCommon CMT1X
IPNMDB_301 commonName c.208C>G
IPNMDB_301 alias Pro70Ala
IPNMDB_302 commonName c.208C>T
IPNMDB_302 alias Pro70Ser
IPNMDB_157 phenoCommon CMT1X
IPNMDB_157 commonName c.210_211insC
IPNMDB_157 alias Ile71fs
IPNMDB_303 commonName c.215C>T
IPNMDB_303 alias Ser72Phe
IPNMDB_158 phenoCommon CMT1X
IPNMDB_158 commonName c.217delC
IPNMDB_158 alias His73fs
IPNMDB_161 phenoCommon CMT1X / CMT2 (+CNS involvement)
IPNMDB_161 commonName c.223C>T
IPNMDB_161 alias Arg75Trp
IPNMDB_159 phenoCommon CMT1X
IPNMDB_159 commonName c.224G>A
IPNMDB_159 alias Arg75Gln
IPNMDB_160 phenoCommon CMT1X
IPNMDB_160 commonName c.224G>C
IPNMDB_160 alias Arg75Pro
IPNMDB_162 phenoCommon CMT1X
IPNMDB_162 commonName c.230G>C
IPNMDB_162 alias Trp77Ser
IPNMDB_304 commonName c.230G>T
IPNMDB_304 alias Trp77Leu
IPNMDB_163 phenoCommon CMT1X
IPNMDB_163 commonName c.231G>A
IPNMDB_163 alias Trp77X
IPNMDB_279 phenoCommon - (polymorphism)
IPNMDB_279 commonName c.235C>T
IPNMDB_279 alias Leu79Leu
IPNMDB_165 phenoCommon CMT1X
IPNMDB_165 commonName c.238C>T
IPNMDB_165 alias Gln80X
IPNMDB_164 phenoCommon CMT1X
IPNMDB_164 commonName c.239A>G
IPNMDB_164 alias Gln80Arg
IPNMDB_166 phenoCommon CMT1X
IPNMDB_166 commonName c.241C>T
IPNMDB_166 alias Leu81Phe
IPNMDB_305 commonName c.242T>A
IPNMDB_305 alias Leu81His
IPNMDB_167 phenoCommon CMT1X
IPNMDB_167 commonName c.248T>C
IPNMDB_167 alias Leu83Pro
IPNMDB_467 phenoCommon CMT1/2
IPNMDB_467 commonName c.248T>G
IPNMDB_467 alias Leu83Arg
IPNMDB_168 phenoCommon CMT1X
IPNMDB_168 commonName c.250G>A
IPNMDB_168 alias Val84Ile
IPNMDB_169 phenoCommon CMT1X
IPNMDB_169 commonName c.254C>G
IPNMDB_169 alias Ser85Cys
IPNMDB_170 phenoCommon CMT1X
IPNMDB_170 commonName c.254C>T
IPNMDB_170 alias Ser85Phe
IPNMDB_171 phenoCommon CMT1X
IPNMDB_171 commonName c.256A>G
IPNMDB_171 alias Thr86Ala
IPNMDB_173 phenoCommon CMT1X
IPNMDB_173 commonName c.256A>T
IPNMDB_173 alias Thr86Ser
IPNMDB_172 phenoCommon CMT1X
IPNMDB_172 commonName c.257C>A
IPNMDB_172 alias Thr86Asn
IPNMDB_174 phenoCommon CMT1X
IPNMDB_174 commonName c.259C>G
IPNMDB_174 alias Pro87Ala
IPNMDB_176 phenoCommon CMT1X
IPNMDB_176 commonName c.259C>T
IPNMDB_176 alias Pro87Ser
IPNMDB_175 phenoCommon CMT1X
IPNMDB_175 commonName c.260C>T
IPNMDB_175 alias Pro87Leu
IPNMDB_306 commonName c.265C>G
IPNMDB_306 alias Leu89Val
IPNMDB_177 phenoCommon CMT1X
IPNMDB_177 commonName c.266T>C
IPNMDB_177 alias Leu89Pro
IPNMDB_346 phenoCommon CMT1/2
IPNMDB_346 commonName c.268C>G
IPNMDB_346 alias Leu90Val
IPNMDB_178 phenoCommon CMT1X
IPNMDB_178 commonName c.269T>A
IPNMDB_178 alias Leu90His
IPNMDB_308 phenoCommon CMT1X
IPNMDB_308 commonName c.271G>A
IPNMDB_308 alias Val91Met
IPNMDB_307 commonName c.272T>C
IPNMDB_307 alias Val91Ala
IPNMDB_179 phenoCommon CMT1X
IPNMDB_179 commonName c.273_274delGG
IPNMDB_179 alias Val91fs
IPNMDB_180 phenoCommon CMT1X
IPNMDB_180 commonName c.275_276delCC
IPNMDB_180 alias Ala92fs
IPNMDB_181 phenoCommon CMT1X
IPNMDB_181 commonName c.277A>G
IPNMDB_181 alias Met93Val
IPNMDB_688 phenoCommon CMT1/2
IPNMDB_688 commonName c.280C>G
IPNMDB_688 alias His94Asp
IPNMDB_183 phenoCommon CMT1X
IPNMDB_183 commonName c.280C>T
IPNMDB_183 alias His94Tyr
IPNMDB_182 phenoCommon CMT1X
IPNMDB_182 commonName c.282C>A
IPNMDB_182 alias His94Gln
IPNMDB_350 phenoCommon CMT1
IPNMDB_350 commonName c.282C>G
IPNMDB_350 alias His94Gln
IPNMDB_184 phenoCommon CMT1X
IPNMDB_184 commonName c.283G>A
IPNMDB_184 alias Val95Met
IPNMDB_309 commonName c.287C>T
IPNMDB_309 alias Ala96Val
IPNMDB_185 phenoCommon CMT1X
IPNMDB_185 commonName c.298C>T
IPNMDB_185 alias His100Tyr
IPNMDB_187 phenoCommon CMT1X
IPNMDB_187 commonName c.304G>T
IPNMDB_187 alias Glu102X
IPNMDB_186 phenoCommon CMT1X
IPNMDB_186 commonName c.305A>G
IPNMDB_186 alias Glu102Gly
IPNMDB_556 phenoCommon CMT1 + white matter lesions
IPNMDB_556 commonName c.304_306delGAG
IPNMDB_556 alias Glu102del
IPNMDB_188 phenoCommon CMT1X
IPNMDB_188 commonName c.307A>G
IPNMDB_188 alias Lys103Glu
IPNMDB_189 phenoCommon CMT1X
IPNMDB_189 commonName c.311A>C
IPNMDB_189 alias Lys104Thr
IPNMDB_190 phenoCommon CMT1X
IPNMDB_190 commonName c.313delA
IPNMDB_190 alias Met105fs
IPNMDB_310 phenoCommon - (polymorphism)
IPNMDB_310 commonName c.318A>G
IPNMDB_310 alias Leu106Leu
IPNMDB_191 phenoCommon CMT1X
IPNMDB_191 commonName c.319C>T
IPNMDB_191 alias Arg107Trp
IPNMDB_568 phenoCommon CMT2
IPNMDB_568 commonName c.323T>C
IPNMDB_568 alias Leu108Pro
IPNMDB_580 phenoCommon CMT1X + CNS involvement
IPNMDB_580 commonName c.324_325insT
IPNMDB_580 alias Glu109X
IPNMDB_408 phenoCommon CMT1X
IPNMDB_408 commonName c.329G>A
IPNMDB_408 alias Gly110Asp
IPNMDB_192 phenoCommon CMT1X
IPNMDB_192 commonName c.332_349delATGGGGACCCCCTACACC
IPNMDB_192 alias His111_His116del
IPNMDB_422 phenoCommon CMT1X
IPNMDB_422 commonName c.338_345delACCCCCTA insTGGC
IPNMDB_422 alias Asp113fs
IPNMDB_629 phenoCommon CMT1
IPNMDB_629 commonName c.358_360delGTG
IPNMDB_629 alias Val120del
IPNMDB_193 phenoCommon CMT1X (+ CNS involvement)
IPNMDB_193 commonName c.359T>A
IPNMDB_193 alias Val120Glu
IPNMDB_195 phenoCommon CMT1X
IPNMDB_195 commonName c.371delA
IPNMDB_195 alias Lys124fs
IPNMDB_194 phenoCommon CMT1X
IPNMDB_194 commonName c.372G>C
IPNMDB_194 alias Lys124Asn
IPNMDB_581 phenoCommon CMT1X
IPNMDB_581 commonName c.374T>A
IPNMDB_581 alias Val125Asp
IPNMDB_682 phenoCommon CMT
IPNMDB_682 commonName c.380T>G
IPNMDB_682 alias Ile127Ser
IPNMDB_311 phenoCommon CMT1X
IPNMDB_311 commonName c.381C>G
IPNMDB_311 alias Ile127Met
IPNMDB_196 phenoCommon CMT1X
IPNMDB_196 commonName c.382T>C
IPNMDB_196 alias Ser128Pro
IPNMDB_441 phenoCommon CMT1
IPNMDB_441 commonName c.383C>G
IPNMDB_441 alias Ser128X
IPNMDB_689 phenoCommon CMT1/2
IPNMDB_689 commonName c.389C>T
IPNMDB_689 alias Thr130Ile
IPNMDB_313 phenoCommon CMT1X (+CNS involvement)
IPNMDB_313 commonName c.392T>C
IPNMDB_313 alias Leu131Pro
IPNMDB_312 phenoCommon - (polymorphism)
IPNMDB_312 commonName c.393G>A
IPNMDB_312 alias Leu131Leu
IPNMDB_198 phenoCommon CMT1X
IPNMDB_198 commonName c.394_395delTG
IPNMDB_198 alias Trp132fs
IPNMDB_494 phenoCommon CMT1X
IPNMDB_494 commonName c.396G>A
IPNMDB_494 alias Trp132X
IPNMDB_199 phenoCommon CMT1X
IPNMDB_199 commonName c.397T>C
IPNMDB_199 alias Trp133Arg
IPNMDB_201 phenoCommon CMT1X
IPNMDB_201 commonName c.399G>A
IPNMDB_201 alias Trp133X
IPNMDB_200 phenoCommon CMT1X
IPNMDB_200 commonName c.399G>T
IPNMDB_200 alias Trp133Cys
IPNMDB_314 commonName c.401C>A
IPNMDB_314 alias Thr134Asn
IPNMDB_202 phenoCommon CMT1X
IPNMDB_202 commonName c.404A>G
IPNMDB_202 alias Tyr135Cys
IPNMDB_725 phenoCommon DSS
IPNMDB_725 commonName GJB1:c.[407T>C]+EGR2:c.[1075C>T]
IPNMDB_725 alias GJB1:[Val136Ala]+EGR2:[Arg359Trp]
IPNMDB_725 comment digenic
IPNMDB_203 phenoCommon CMT1X
IPNMDB_203 commonName c.410delT
IPNMDB_203 alias Ile137fs
IPNMDB_315 commonName c.412A>G
IPNMDB_315 alias Ser138Gly
IPNMDB_617 phenoCommon CMT1X / CMT2
IPNMDB_617 commonName c.413G>A
IPNMDB_617 alias Ser138Asn
IPNMDB_204 phenoCommon CMT1X
IPNMDB_204 commonName c.415G>A
IPNMDB_204 alias Val139Met
IPNMDB_856 phenoCommon CMT1X
IPNMDB_856 commonName c.419T>A
IPNMDB_856 alias Val 140Glu
IPNMDB_205 phenoCommon CMT1X
IPNMDB_205 commonName c.423C>G
IPNMDB_205 alias Phe141Leu
IPNMDB_206 phenoCommon CMT1X (+ CNS involvement)
IPNMDB_206 commonName c.424C>T
IPNMDB_206 alias Arg142Trp
IPNMDB_207 phenoCommon CMT1X (+ deafness)
IPNMDB_207 commonName c.425G>A
IPNMDB_207 alias Arg142Gln
IPNMDB_857 phenoCommon CMT1X
IPNMDB_857 commonName c.428T>C
IPNMDB_857 alias Leu143Pro
IPNMDB_208 phenoCommon CMT1X
IPNMDB_208 commonName c.432_434delGTT
IPNMDB_208 alias Leu144del
IPNMDB_630 phenoCommon CMT1
IPNMDB_630 commonName c.436G>A
IPNMDB_630 alias Glu146Lys
IPNMDB_209 phenoCommon CMT1X
IPNMDB_209 commonName c.439delG
IPNMDB_209 alias Ala147fs
IPNMDB_631 phenoCommon CMT1
IPNMDB_631 commonName c.440C>A
IPNMDB_631 alias Ala147Asp
IPNMDB_316 phenoCommon - (polymorphism)
IPNMDB_316 commonName c.441C>T
IPNMDB_316 alias Ala147Ala
IPNMDB_210 phenoCommon CMT1X
IPNMDB_210 commonName c.445T>A
IPNMDB_210 alias Phe149Ile
IPNMDB_211 phenoCommon CMT1X
IPNMDB_211 commonName c.445T>G
IPNMDB_211 alias Phe149Val
IPNMDB_915 phenoCommon CMT1
IPNMDB_915 commonName c.451T>C
IPNMDB_915 alias Tyr151His
IPNMDB_351 phenoCommon CMT1/2
IPNMDB_351 commonName c.452A>C
IPNMDB_351 alias Tyr151Ser
IPNMDB_409 phenoCommon CMT1X
IPNMDB_409 commonName c.455T>A
IPNMDB_409 alias Val152Asp
IPNMDB_582 phenoCommon CMT1X
IPNMDB_582 commonName c.458T>C
IPNMDB_582 alias Phe153Ser
IPNMDB_881 phenoCommon CMT1
IPNMDB_881 commonName c.459_460delTT
IPNMDB_881 alias Phe153fs
IPNMDB_212 phenoCommon CMT1X
IPNMDB_212 commonName c.462T>A
IPNMDB_212 alias Tyr154X
IPNMDB_858 phenoCommon CMT1X
IPNMDB_858 commonName c.466_475delCTCTACCCTG
IPNMDB_858 alias Leu156fs
IPNMDB_214 phenoCommon CMT1X
IPNMDB_214 commonName c.466C>T
IPNMDB_214 alias Leu156Phe
IPNMDB_213 phenoCommon CMT1X
IPNMDB_213 commonName c.467T>G
IPNMDB_213 alias Leu156Arg
IPNMDB_215 phenoCommon CMT1X
IPNMDB_215 commonName c.470A>G
IPNMDB_215 alias Tyr157Cys
IPNMDB_216 phenoCommon CMT1X
IPNMDB_216 commonName c.472C>G
IPNMDB_216 alias Pro158Ala
IPNMDB_218 phenoCommon CMT1X
IPNMDB_218 commonName c.472C>T
IPNMDB_218 alias Pro158Ser
IPNMDB_217 phenoCommon CMT1X
IPNMDB_217 commonName c.473C>G
IPNMDB_217 alias Pro158Arg
IPNMDB_317 commonName c.473C>T
IPNMDB_317 alias Pro158Leu
IPNMDB_318 phenoCommon CMT1X
IPNMDB_318 commonName c.474delT
IPNMDB_318 alias Pro158fs
IPNMDB_219 phenoCommon CMT1X
IPNMDB_219 commonName c.475G>A
IPNMDB_219 alias Gly159Ser
IPNMDB_558 phenoCommon unspecified CMT
IPNMDB_558 commonName c.476G>A
IPNMDB_558 alias Gly159Asp
IPNMDB_220 phenoCommon CMT1X
IPNMDB_220 commonName c.478T>C
IPNMDB_220 alias Tyr160His
IPNMDB_221 phenoCommon CMT1X
IPNMDB_221 commonName c.481G>C
IPNMDB_221 alias Ala161Pro
IPNMDB_319 phenoCommon - (polymorphism)
IPNMDB_319 commonName c.483C>T
IPNMDB_319 alias Ala161Ala
IPNMDB_223 phenoCommon CMT1X (+ transient CNS involvement)
IPNMDB_223 commonName c.490C>T
IPNMDB_223 alias Arg164Trp
IPNMDB_222 phenoCommon CMT1X (+ CNS involvement), CMT2
IPNMDB_222 commonName c.491G>A
IPNMDB_222 alias Arg164Gln
IPNMDB_410 phenoCommon CMT1X
IPNMDB_410 commonName c.499A>G
IPNMDB_410 alias Lys167Glu
IPNMDB_726 phenoCommon CMT1
IPNMDB_726 commonName c.502T>C
IPNMDB_726 alias Cys168Arg
IPNMDB_320 phenoCommon CMT1X + transient CNS involvement
IPNMDB_320 commonName c.503G>A
IPNMDB_320 alias Cys168Tyr
IPNMDB_321 commonName c.504C>A
IPNMDB_321 alias Cys168X
IPNMDB_322 phenoCommon - (polymorphism)
IPNMDB_322 commonName c.507C>T
IPNMDB_322 alias Asp169Asp
IPNMDB_618 phenoCommon CMT1X / CMT2
IPNMDB_618 commonName c.514C>G
IPNMDB_618 alias Pro172Ala
IPNMDB_225 phenoCommon CMT1X
IPNMDB_225 commonName c.514C>T
IPNMDB_225 alias Pro172Ser
IPNMDB_323 phenoCommon CMT1X
IPNMDB_323 commonName c.515C>G
IPNMDB_323 alias Pro172Arg
IPNMDB_224 phenoCommon CMT1X
IPNMDB_224 commonName c.515C>T
IPNMDB_224 alias Pro172Leu
IPNMDB_226 phenoCommon CMT1X
IPNMDB_226 commonName c.517T>C
IPNMDB_226 alias Cys173Arg
IPNMDB_468 commonName c.518G>A
IPNMDB_468 alias Cys173Tyr
IPNMDB_227 phenoCommon CMT1X
IPNMDB_227 commonName c.523A>G
IPNMDB_227 alias Asn175Asp
IPNMDB_228 phenoCommon CMT1X
IPNMDB_228 commonName c.524_525insA
IPNMDB_228 alias Asn175fs
IPNMDB_469 phenoCommon CMT1X
IPNMDB_469 commonName c.526A>C
IPNMDB_469 alias Thr176Pro
IPNMDB_229 phenoCommon CMT1X
IPNMDB_229 commonName c.530T>A
IPNMDB_229 alias Val177Glu
IPNMDB_230 phenoCommon CMT1X
IPNMDB_230 commonName c.530T>C
IPNMDB_230 alias Val177Ala
IPNMDB_231 phenoCommon CMT1X
IPNMDB_231 commonName c.532G>T
IPNMDB_231 alias Asp178Tyr
IPNMDB_232 phenoCommon CMT1X
IPNMDB_232 commonName c.535T>C
IPNMDB_232 alias Cys179Arg
IPNMDB_882 phenoCommon unspecified CMT
IPNMDB_882 commonName c.536G>A
IPNMDB_882 alias Cys179Tyr
IPNMDB_916 phenoCommon CMT1
IPNMDB_916 commonName c.538T>C
IPNMDB_916 alias Phe180Leu
IPNMDB_324 phenoCommon CMT1X
IPNMDB_324 commonName c.539T>C
IPNMDB_324 alias Phe180Ser
IPNMDB_233 phenoCommon CMT1X
IPNMDB_233 commonName c.540C>G
IPNMDB_233 alias Phe180Leu
IPNMDB_234 phenoCommon CMT1X
IPNMDB_234 commonName c.541G>A
IPNMDB_234 alias Val181Met
IPNMDB_740 phenoCommon CMT1X
IPNMDB_740 commonName c.542T>C
IPNMDB_740 alias Val181Ala
IPNMDB_235 phenoCommon CMT1X
IPNMDB_235 commonName c.544T>A
IPNMDB_235 alias Ser182Thr
IPNMDB_238 phenoCommon CMT1X
IPNMDB_238 commonName c.547C>A
IPNMDB_238 alias Arg183Ser
IPNMDB_236 phenoCommon CMT1X
IPNMDB_236 commonName c.547C>T
IPNMDB_236 alias Arg183Cys
IPNMDB_237 phenoCommon CMT1X
IPNMDB_237 commonName c.548G>A
IPNMDB_237 alias Arg183His
IPNMDB_239 phenoCommon CMT1X
IPNMDB_239 commonName c.551C>G
IPNMDB_239 alias Pro184Arg
IPNMDB_352 phenoCommon CMT1/2
IPNMDB_352 commonName c.551C>T
IPNMDB_352 alias Pro184Leu
IPNMDB_240 phenoCommon CMT1X
IPNMDB_240 commonName c.553_555delACC
IPNMDB_240 alias Thr185del
IPNMDB_241 phenoCommon CMT1X (+ deafness)
IPNMDB_241 commonName c.556G>A
IPNMDB_241 alias Glu186Lys
IPNMDB_242 phenoCommon CMT1X
IPNMDB_242 commonName c.556G>T
IPNMDB_242 alias Glu186X
IPNMDB_243 phenoCommon CMT1X
IPNMDB_243 commonName c.556_557insG
IPNMDB_243 alias Glu186fs
IPNMDB_244 phenoCommon CMT1X
IPNMDB_244 commonName c.559A>G
IPNMDB_244 alias Lys187Glu
IPNMDB_845 phenoCommon CMT1X
IPNMDB_845 commonName c.561_569insAACCGTCTT
IPNMDB_845 alias Val189_Phe190insLeuThrVal
IPNMDB_325 phenoCommon CMT1X
IPNMDB_325 commonName c.562A>G
IPNMDB_325 alias Thr188Ala
IPNMDB_246 phenoCommon CMT1X
IPNMDB_246 commonName c.565G>A
IPNMDB_246 alias Val189Ile
IPNMDB_245 phenoCommon CMT1X
IPNMDB_245 commonName c.566T>G
IPNMDB_245 alias Val189Gly
IPNMDB_486 phenoCommon CMT1X
IPNMDB_486 commonName c.571A>G
IPNMDB_486 alias Thr191Ala
IPNMDB_834 phenoCommon CMT1X
IPNMDB_834 commonName c.571_579dupACCGTCTTC
IPNMDB_834 alias Thr191_Phe193dup
IPNMDB_741 phenoCommon CMT1X
IPNMDB_741 commonName c.572_580delCCGTCTTCA
IPNMDB_741 alias Thr191_Phe193del
IPNMDB_326 phenoCommon CMT1X
IPNMDB_326 commonName c.574G>T
IPNMDB_326 alias Val192Phe
IPNMDB_249 phenoCommon CMT1X
IPNMDB_249 commonName c.578T>G
IPNMDB_249 alias Phe193Cys
IPNMDB_347 phenoCommon CMT1
IPNMDB_347 commonName c.579C>G
IPNMDB_347 alias Phe193Leu
IPNMDB_250 phenoCommon CMT1X
IPNMDB_250 commonName c.580A>G
IPNMDB_250 alias Met194Val
IPNMDB_251 phenoCommon CMT1X
IPNMDB_251 commonName c.593C>T
IPNMDB_251 alias Ser198Phe
IPNMDB_727 phenoCommon - (polymorphism)
IPNMDB_727 commonName c.594T>A
IPNMDB_727 alias Ser198Ser
IPNMDB_252 phenoCommon CMT1X
IPNMDB_252 commonName c.595G>C
IPNMDB_252 alias Gly199Arg
IPNMDB_253 phenoCommon CMT1X
IPNMDB_253 commonName c.601T>C
IPNMDB_253 alias Cys201Arg
IPNMDB_686 phenoCommon CMT1/2
IPNMDB_686 commonName c.602G>A
IPNMDB_686 alias Cys201Tyr
IPNMDB_883 phenoCommon CMT1
IPNMDB_883 commonName c.602G>T
IPNMDB_883 alias Cys201Phe
IPNMDB_254 phenoCommon CMT1X
IPNMDB_254 commonName c.608T>A
IPNMDB_254 alias Ile203Asn
IPNMDB_255 phenoCommon CMT1X
IPNMDB_255 commonName c.610C>G
IPNMDB_255 alias Leu204Val
IPNMDB_256 phenoCommon CMT1X
IPNMDB_256 commonName c.610C>T
IPNMDB_256 alias Leu204Phe
IPNMDB_257 phenoCommon CMT1X (+ CNS involvement)
IPNMDB_257 commonName c.614A>G
IPNMDB_257 alias Asn205Ser
IPNMDB_327 phenoCommon CMT2 + deafness
IPNMDB_327 commonName c.614A>T
IPNMDB_327 alias Asn205Ile
IPNMDB_328 phenoCommon CMT1X
IPNMDB_328 commonName c.617_618insT
IPNMDB_328 alias Val206fs
IPNMDB_258 phenoCommon CMT1X
IPNMDB_258 commonName c.622G>A
IPNMDB_258 alias Glu208Lys
IPNMDB_533 phenoCommon CMT1X
IPNMDB_533 commonName c.623A>G
IPNMDB_533 alias Glu208Gly
IPNMDB_632 phenoCommon CMT1
IPNMDB_632 commonName c.628_630delGTG
IPNMDB_632 alias Val210del
IPNMDB_507 phenoCommon CMT1
IPNMDB_507 commonName c.631T>C
IPNMDB_507 alias Tyr211His
IPNMDB_259 phenoCommon CMT1X
IPNMDB_259 commonName c.633C>A
IPNMDB_259 alias Tyr211X
IPNMDB_884 phenoCommon CMT1
IPNMDB_884 commonName c.633delC
IPNMDB_884 alias Leu212fs
IPNMDB_680 phenoCommon CMT
IPNMDB_680 commonName c.634C>T
IPNMDB_680 alias Leu212Phe
IPNMDB_260 phenoCommon CMT1X
IPNMDB_260 commonName c.637_640delATCAinsC
IPNMDB_260 alias Ile213_Ile214delinsLeu
IPNMDB_329 commonName c.637A>G
IPNMDB_329 alias Ile213Val
IPNMDB_879 phenoCommon CMT1/2
IPNMDB_879 commonName c.641T>A
IPNMDB_879 alias Ile214Asn
IPNMDB_261 phenoCommon CMT1X
IPNMDB_261 commonName c.643C>T
IPNMDB_261 alias Arg215Trp
IPNMDB_262 phenoCommon CMT1X
IPNMDB_262 commonName c.651T>A
IPNMDB_262 alias Cys217X
IPNMDB_263 phenoCommon CMT1X
IPNMDB_263 commonName c.655C>T
IPNMDB_263 alias Arg219Cys
IPNMDB_264 phenoCommon CMT1X
IPNMDB_264 commonName c.656G>A
IPNMDB_264 alias Arg219His
IPNMDB_265 phenoCommon CMT1X
IPNMDB_265 commonName c.658C>G
IPNMDB_265 alias Arg220Gly
IPNMDB_266 phenoCommon CMT1X
IPNMDB_266 commonName c.658C>T
IPNMDB_266 alias Arg220X
IPNMDB_267 phenoCommon CMT1X
IPNMDB_267 commonName c.688C>T
IPNMDB_267 alias Arg230Cys
RISN_LRAT:c.505A>T commonName Ser 175 Arg
RISN_LRAT:c.505A>T phenoCommon Early-onset severe retinal dystrophy
RISN_LRAT:c.505A>T protEffect p.Ser175Arg
RISN_LRAT:c.332A>G commonName Glu 114 Glu
RISN_LRAT:c.332A>G protEffect p.Glu114Glu
RISN_XLRS:c.(?_1)_(184_?)del commonName Del Exon 1 - 3
RISN_XLRS:c.(?_1)_(184_?)del phenoCommon RS
RISN_XLRS:c.(?_1)_(52_?)del commonName Exon 1 del
RISN_XLRS:c.(?_1)_(52_?)del phenoCommon RS
RISN_XLRS:c.1A>G commonName Met 1 Val
RISN_XLRS:c.1A>G phenoCommon RS
RISN_XLRS:c.1A>G protEffect p.Met1Val
IPNMDB_268 phenoCommon CMT1X
IPNMDB_268 commonName c.689G>T
IPNMDB_268 alias Arg230Leu
IPNMDB_269 phenoCommon CMT1X (severe)
IPNMDB_269 commonName c.704T>G
IPNMDB_269 alias Phe235Cys
IPNMDB_270 phenoCommon CMT1X
IPNMDB_270 commonName c.713G>A
IPNMDB_270 alias Arg238His
IPNMDB_330 phenoCommon CMT1X
IPNMDB_330 commonName c.715C>A
IPNMDB_330 alias Leu239Ile
IPNMDB_271 phenoCommon CMT1X
IPNMDB_271 commonName c.761_762insA
IPNMDB_271 alias Glu254fs
IPNMDB_633 phenoCommon CMT2
IPNMDB_633 commonName c.790C>T
IPNMDB_633 alias Arg264Cys
IPNMDB_272 phenoCommon CMT1X
IPNMDB_272 commonName c.793_821del29
IPNMDB_272 alias Arg265fs
IPNMDB_423 phenoCommon CMT1X
RISN_XLRS:c.2T>C commonName Met 1 Thr
RISN_XLRS:c.2T>C phenoCommon RS
RISN_XLRS:c.2T>C protEffect p.Met1Thr
RISN_XLRS:c.52+2T>C commonName IVS1+2t>c
RISN_XLRS:c.52+2T>C phenoCommon RS
RISN_XLRS:c.33_36delACTT commonName 33delACTT
RISN_XLRS:c.33_36delACTT phenoCommon RS
RISN_XLRS:c.35T>A commonName Leu 12 His
RISN_XLRS:c.35T>A phenoCommon RS
RISN_XLRS:c.35T>A protEffect p.Leu12His
RISN_XLRS:c.38T>C commonName Leu 13 Pro
RISN_XLRS:c.38T>C phenoCommon RS
RISN_XLRS:c.38T>C protEffect p.Leu13Pro
RISN_XLRS:c.52+1G>A commonName IVS1+1g>a
RISN_XLRS:c.52+1G>A phenoCommon RS
RISN_XLRS:c.52+1_52+2insT commonName IVS1+2ins t
RISN_XLRS:c.52+1_52+2insT phenoCommon RS
RISN_XLRS:c.52+5G>C commonName IVS1+5g>c
RISN_XLRS:c.52+5G>C phenoCommon RS
RISN_XLRS:c.52+1G>T commonName IVS1+1g>t
RISN_XLRS:c.52+1G>T phenoCommon RS
RISN_XLRS:c.53_77del commonName 53del25bp
RISN_XLRS:c.53_77del phenoCommon RS
RISN_XLRS:c.(?_53)_(78_?)del commonName Exon 2 del
RISN_XLRS:c.(?_53)_(78_?)del phenoCommon RS
RISN_XLRS:c.68C>A commonName Ser 23 ter
RISN_XLRS:c.68C>A phenoCommon RS
RISN_XLRS:c.68C>A protEffect p.Ser23X
RISN_XLRS:c.76G>T commonName Glu 26 ter
RISN_XLRS:c.76G>T phenoCommon RS
RISN_XLRS:c.76G>T protEffect p.Glu26X
RISN_XLRS:c.79-2A>G commonName IVS2-2a>g
RISN_XLRS:c.79-2A>G phenoCommon RS
RISN_XLRS:c.78+1G>A commonName IVS2+1g>a
RISN_XLRS:c.78+1G>A phenoCommon RS
RISN_XLRS:c.79_183del commonName 79del105del
RISN_XLRS:c.79_183del phenoCommon RS
RISN_XLRS:c.120C>A commonName Cys 40 ter
RISN_XLRS:c.120C>A phenoCommon RS
RISN_XLRS:c.120C>A protEffect p.Cys40X
RISN_XLRS:c.163delA commonName 163delA
RISN_XLRS:c.163delA phenoCommon RS
RISN_XLRS:c.163_164insGCCA commonName 164insGCCA
RISN_XLRS:c.163_164insGCCA phenoCommon RS
RISN_XLRS:c.173_205del commonName 173del33bp
RISN_XLRS:c.173_205del phenoCommon RS
RISN_XLRS:c.175T>A commonName Cys 59 Ser
RISN_XLRS:c.175T>A phenoCommon RS
RISN_XLRS:c.175T>A protEffect p.Cys59Ser
RISN_XLRS:c.181_194del commonName 181del14bp
RISN_XLRS:c.181_194del phenoCommon RS
RISN_XLRS:c.184+1G>C commonName IVS3+1g>c
RISN_XLRS:c.184+1G>C phenoCommon RS
RISN_XLRS:c.185-1G>C commonName IVS3-1g>c
RISN_XLRS:c.185-1G>C phenoCommon RS
RISN_XLRS:c.185_325del commonName 185del141bp
RISN_XLRS:c.185_325del phenoCommon RS
RISN_XLRS:c.185-34_623del commonName IVS3-34 del 473bp
RISN_XLRS:c.185-34_623del phenoCommon RS
RISN_XLRS:c.194A>G commonName Tyr 65 Cys
RISN_XLRS:c.194A>G phenoCommon RS
RISN_XLRS:c.194A>G protEffect p.Tyr65Cys
RISN_XLRS:c.194delA commonName 194delA
RISN_XLRS:c.194delA phenoCommon RS
RISN_XLRS:c.208G>C commonName Gly 70 Ala
RISN_XLRS:c.208G>C phenoCommon RS
RISN_XLRS:c.208G>C protEffect p.Gly70Ala
RISN_XLRS:c.209G>A commonName Gly 70 Ser
RISN_XLRS:c.209G>A phenoCommon RS
RISN_XLRS:c.209G>A protEffect p.Gly70Ser
RISN_XLRS:c.214G>A commonName Glu 72 Lys
RISN_XLRS:c.214G>A phenoCommon RS
RISN_XLRS:c.214G>A protEffect p.Glu72Lys
RISN_XLRS:c.214G>C commonName Glu 72 Gln
RISN_XLRS:c.214G>C phenoCommon RS
RISN_XLRS:c.214G>C protEffect p.Glu72Gln
RISN_XLRS:c.216G>C commonName Glu 72 Asp
RISN_XLRS:c.216G>C phenoCommon RS
RISN_XLRS:c.216G>C protEffect p.Glu72Asp
RISN_XLRS:c.217T>C commonName Ser 73 Pro
RISN_XLRS:c.217T>C phenoCommon RS
RISN_XLRS:c.217T>C protEffect p.Ser73Pro
RISN_XLRS:c.219delA commonName 219delA
RISN_XLRS:c.219delA phenoCommon RS
RISN_XLRS:c.221G>T commonName Gly 74 Val
RISN_XLRS:c.221G>T phenoCommon RS
RISN_XLRS:c.221G>T protEffect p.Gly74Val
RISN_XLRS:c.221_237delins20 commonName 221del17bp ins20bp
RISN_XLRS:c.221_237delins20 phenoCommon RS
RISN_XLRS:c.223G>T commonName Glu 75 ter
RISN_XLRS:c.223G>T phenoCommon RS
RISN_XLRS:c.223G>T protEffect p.Glu75X
RISN_XLRS:c.242T>A commonName Ile 81 Asp
RISN_XLRS:c.242T>A phenoCommon RS
RISN_XLRS:c.242T>A protEffect p.Ile81Asp
RISN_XLRS:c.253_255delAAC commonName 253delAAC
RISN_XLRS:c.253_255delAAC phenoCommon RS
RISN_XLRS:c.262C>T commonName Gln 88 ter
RISN_XLRS:c.262C>T phenoCommon RS
RISN_XLRS:c.262C>T protEffect p.Gln88X
RISN_XLRS:c.266A>G commonName Tyr 89 Cys
RISN_XLRS:c.266A>G phenoCommon RS
RISN_XLRS:c.266A>G protEffect p.Tyr89Cys
RISN_XLRS:c.267T>A commonName Tyr 89 ter
RISN_XLRS:c.267T>A phenoCommon RS
RISN_XLRS:c.267T>A protEffect p.Tyr89X
RISN_XLRS:c.276G>C commonName Trp 92 Cys
RISN_XLRS:c.276G>C phenoCommon RS
RISN_XLRS:c.276G>C protEffect p.Trp92Cys
RISN_XLRS:c.286T>C commonName Trp 96 Arg
RISN_XLRS:c.286T>C phenoCommon RS
RISN_XLRS:c.286T>C protEffect p.Trp96Arg
RISN_XLRS:c.288G>A commonName Trp 96 ter
RISN_XLRS:c.288G>A phenoCommon RS
RISN_XLRS:c.288G>A protEffect p.Trp96X
RISN_XLRS:c.293C>A commonName Ala 98 Glu
RISN_XLRS:c.293C>A phenoCommon RS
RISN_XLRS:c.293C>A protEffect p.Ala98Glu
RISN_XLRS:c.301G>C commonName Ala 101 Pro
RISN_XLRS:c.301G>C phenoCommon RS
RISN_XLRS:c.301G>C protEffect p.Ala101Pro
RISN_XLRS:c.301delG commonName 301delG
RISN_XLRS:c.301delG phenoCommon RS
RISN_XLRS:c.304C>T commonName Arg 102 Trp
RISN_XLRS:c.304C>T phenoCommon RS
RISN_XLRS:c.304C>T protEffect p.Arg102Trp
RISN_XLRS:c.305G>A commonName Arg 102 Gln
RISN_XLRS:c.305G>A phenoCommon RS
RISN_XLRS:c.305G>A protEffect p.Arg102Gln
RISN_XLRS:c.308T>G commonName Leu 103 Arg
RISN_XLRS:c.308T>G phenoCommon RS
RISN_XLRS:c.308T>G protEffect p.Leu103Arg
RISN_XLRS:c.312C>G commonName Asn 104 Lys
RISN_XLRS:c.312C>G phenoCommon RS
RISN_XLRS:c.312C>G protEffect p.Asn104Lys
RISN_XLRS:c.317dupA commonName 317insA
RISN_XLRS:c.317dupA phenoCommon RS
RISN_XLRS:c.323T>G commonName Phe 108 Cys
RISN_XLRS:c.323T>G phenoCommon RS
RISN_XLRS:c.323T>G protEffect p.Phe108Cys
RISN_XLRS:c.325G>T commonName Gly 109 Trp
RISN_XLRS:c.325G>T phenoCommon RS
RISN_XLRS:c.325G>T protEffect p.Gly109Trp
RISN_XLRS:c.325G>C commonName Gly 109 Arg
RISN_XLRS:c.325G>C phenoCommon RS
RISN_XLRS:c.325G>C protEffect p.Gly109Arg
RISN_XLRS:c.326G>A commonName Gly 109 Glu
RISN_XLRS:c.326G>A phenoCommon RS
RISN_XLRS:c.326G>A protEffect p.Gly109Glu
RISN_XLRS:c.326+1G>A commonName IVS4+1g>a
RISN_XLRS:c.326+1G>A phenoCommon RS
RISN_XLRS:c.329G>A commonName Cys 110 Tyr
RISN_XLRS:c.329G>A phenoCommon RS
RISN_XLRS:c.329G>A protEffect p.Cys110Tyr
RISN_XLRS:c.330T>C commonName Cys 110 Cys
RISN_XLRS:c.330T>C protEffect p.Cys110Cys
RISN_XLRS:c.330T>A commonName Cys 110 ter
RISN_XLRS:c.330T>A phenoCommon RS
RISN_XLRS:c.330T>A protEffect p.Cys110X
RISN_XLRS:c.336G>C commonName Trp 112 Cys
RISN_XLRS:c.336G>C phenoCommon RS
RISN_XLRS:c.336G>C protEffect p.Trp112Cys
RISN_XLRS:c.336G>T commonName Trp 112 Cys
RISN_XLRS:c.336G>T phenoCommon RS
RISN_XLRS:c.336G>T protEffect p.Trp112Cys
RISN_XLRS:c.337C>T commonName Leu 113 Phe
RISN_XLRS:c.337C>T phenoCommon RS
RISN_XLRS:c.337C>T protEffect p.Leu113Phe
RISN_XLRS:c.349_350insT commonName 350insT
RISN_XLRS:c.349_350insT phenoCommon RS
RISN_XLRS:c.366G>C commonName Trp 122 Cys
RISN_XLRS:c.366G>C phenoCommon RS
RISN_XLRS:c.366G>C protEffect p.Trp122Cys
RISN_XLRS:c.375_378delAGAT commonName 375delAGAT
RISN_XLRS:c.375_378delAGAT phenoCommon RS
RISN_XLRS:c.380T>C commonName Leu 127 Pro
RISN_XLRS:c.380T>C phenoCommon RS
RISN_XLRS:c.380T>C protEffect p.Leu127Pro
RISN_XLRS:c.392_393delAA commonName 392delAA
RISN_XLRS:c.392_393delAA phenoCommon RS
RISN_XLRS:c.397A>T commonName Ile 133 Phe
RISN_XLRS:c.397A>T phenoCommon RS
RISN_XLRS:c.397A>T protEffect p.Ile133Phe
RISN_XLRS:c.404G>T commonName Gly 135 Val
RISN_XLRS:c.404G>T phenoCommon RS
RISN_XLRS:c.404G>T protEffect p.Gly135Val
RISN_XLRS:c.407T>C commonName Ile 136 Thr
RISN_XLRS:c.407T>C phenoCommon RS
RISN_XLRS:c.407T>C protEffect p.Ile136Thr
RISN_XLRS:c.412A>G commonName Thr 138 Ala
RISN_XLRS:c.412A>G phenoCommon RS
RISN_XLRS:c.412A>G protEffect p.Thr138Ala
RISN_XLRS:c.416delA commonName 416delA
RISN_XLRS:c.416delA phenoCommon RS
RISN_XLRS:c.418G>A commonName Gly 140 Arg
RISN_XLRS:c.418G>A phenoCommon RS
RISN_XLRS:c.418G>A protEffect p.Gly140Arg
RISN_XLRS:c.419G>A commonName Gly 140 Glu
RISN_XLRS:c.419G>A phenoCommon RS
RISN_XLRS:c.419G>A protEffect p.Gly140Glu
RISN_XLRS:c.421C>T commonName Arg 141 Cys
RISN_XLRS:c.421C>T phenoCommon RS
RISN_XLRS:c.421C>T protEffect p.Arg141Cys
RISN_XLRS:c.421C>G commonName Arg 141 Gly
RISN_XLRS:c.421C>G phenoCommon RS
RISN_XLRS:c.421C>G protEffect p.Arg141Gly
RISN_XLRS:c.422G>A commonName Arg 141 His
RISN_XLRS:c.422G>A phenoCommon RS
RISN_XLRS:c.422G>A protEffect p.Arg141His
RISN_XLRS:c.426T>C commonName Cys 142 Cys
RISN_XLRS:c.426T>C protEffect p.Cys142Cys
RISN_XLRS:c.426_427delTG commonName 426delTG
RISN_XLRS:c.426_427delTG phenoCommon RS
RISN_XLRS:c.426T>G commonName Cys 142 Trp
RISN_XLRS:c.426T>G phenoCommon RS
RISN_XLRS:c.426T>G protEffect p.Cys142Trp
RISN_XLRS:c.428A>T commonName Asp 143 Val
RISN_XLRS:c.428A>T phenoCommon RS
RISN_XLRS:c.428A>T protEffect p.Asp143Val
RISN_XLRS:c.436G>A commonName Glu 146 Lys
RISN_XLRS:c.436G>A phenoCommon RS
RISN_XLRS:c.436G>A protEffect p.Glu146Lys
RISN_XLRS:c.438G>C commonName Glu 146 Asp
RISN_XLRS:c.438G>C phenoCommon RS
RISN_XLRS:c.438G>C protEffect p.Glu146Asp
RISN_XLRS:c.460C>T commonName Gln 154 ter
RISN_XLRS:c.460C>T phenoCommon RS
RISN_XLRS:c.460C>T protEffect p.Gln154X
RISN_XLRS:c.464A>G commonName Tyr 155 Cys
RISN_XLRS:c.464A>G phenoCommon RS
RISN_XLRS:c.464A>G protEffect p.Tyr155Cys
RISN_XLRS:c.472G>A commonName Asp 158 Asn
RISN_XLRS:c.472G>A protEffect p.Asp158Asn
RISN_XLRS:c.489G>A commonName Trp 163 ter
RISN_XLRS:c.489G>A phenoCommon RS
RISN_XLRS:c.489G>A protEffect p.Trp163X
RISN_XLRS:c.489G>T commonName Trp 163 Cys
RISN_XLRS:c.489G>T phenoCommon RS
RISN_XLRS:c.489G>T protEffect p.Trp163Cys
RISN_XLRS:c.499A>T commonName Lys 167 ter
RISN_XLRS:c.499A>T phenoCommon RS
RISN_XLRS:c.499A>T protEffect p.Lys167X
RISN_XLRS:c.501G>C commonName Lys 167 Asn
RISN_XLRS:c.501G>C phenoCommon RS
RISN_XLRS:c.501G>C protEffect p.Lys167Asn
RISN_XLRS:c.522+5G>A commonName IVS5+5g>a
RISN_XLRS:c.522+5G>A phenoCommon RS
RISN_XLRS:c.522+1G>T commonName IVS5+1g>t
RISN_XLRS:c.522+1G>T phenoCommon RS
RISN_XLRS:c.522+1G>A commonName IVS5+1g>a
RISN_XLRS:c.522+1G>A phenoCommon RS
RISN_XLRS:c.523-2A>G commonName IVS5-2a>g
RISN_XLRS:c.523-2A>G phenoCommon RS
RISN_XLRS:c.533G>A commonName Gly 178 Asp
RISN_XLRS:c.533G>A phenoCommon RS
RISN_XLRS:c.533G>A protEffect p.Gly178Asp
RISN_XLRS:c.535A>G commonName Asn 179 Asp
RISN_XLRS:c.535A>G phenoCommon RS
RISN_XLRS:c.535A>G protEffect p.Asn179Asp
RISN_XLRS:c.544C>T commonName Arg 182 Cys
RISN_XLRS:c.544C>T phenoCommon RS
RISN_XLRS:c.544C>T protEffect p.Arg182Cys
RISN_XLRS:c.548_549insCC commonName 549insCC
RISN_XLRS:c.548_549insCC phenoCommon RS
RISN_XLRS:c.554C>T commonName Thr 185 Lys
RISN_XLRS:c.554C>T phenoCommon RS
RISN_XLRS:c.554C>T protEffect p.Thr185Lys
RISN_XLRS:c.574C>T commonName Pro 192 Ser
RISN_XLRS:c.574C>T phenoCommon RS
RISN_XLRS:c.574C>T protEffect p.Pro192Ser
RISN_XLRS:c.574C>A commonName Pro 192 Thr
RISN_XLRS:c.574C>A phenoCommon RS
RISN_XLRS:c.574C>A protEffect p.Pro192Thr
RISN_XLRS:c.575C>G commonName Pro 192 Arg
RISN_XLRS:c.575C>G phenoCommon RS
RISN_XLRS:c.575C>G protEffect p.Pro192Arg
RISN_XLRS:c.576_577insT commonName 577insT
RISN_XLRS:c.576_577insT phenoCommon RS
RISN_XLRS:c.577C>T commonName Pro 193 Ser
RISN_XLRS:c.577C>T phenoCommon RS
RISN_XLRS:c.577C>T protEffect p.Pro193Ser
RISN_XLRS:c.578C>T commonName Pro 193 Leu
RISN_XLRS:c.578C>T phenoCommon RS
RISN_XLRS:c.578C>T protEffect p.Pro193Leu
RISN_XLRS:c.579dupC commonName 579insC
RISN_XLRS:c.579dupC phenoCommon RS
RISN_XLRS:c.589C>T commonName Arg 197 Cys
RISN_XLRS:c.589C>T phenoCommon RS
RISN_XLRS:c.589C>T protEffect p.Arg197Cys
RISN_XLRS:c.590G>C commonName Arg 197 Pro
RISN_XLRS:c.590G>C phenoCommon RS
RISN_XLRS:c.590G>C protEffect p.Arg197Pro
RISN_XLRS:c.590G>A commonName Arg 197 His
RISN_XLRS:c.590G>A phenoCommon RS
RISN_XLRS:c.590G>A protEffect p.Arg197His
RISN_XLRS:c.596T>C commonName Ile 199 Thr
RISN_XLRS:c.596T>C phenoCommon RS
RISN_XLRS:c.596T>C protEffect p.Ile199Thr
RISN_XLRS:c.598C>T commonName Arg 200 Cys
RISN_XLRS:c.598C>T phenoCommon RS
RISN_XLRS:c.598C>T protEffect p.Arg200Cys
RISN_XLRS:c.599G>A commonName Arg 200 His
RISN_XLRS:c.599G>A phenoCommon RS
RISN_XLRS:c.599G>A protEffect p.Arg200His
RISN_XLRS:c.606C>T commonName Ile 202 Ile
RISN_XLRS:c.606C>T protEffect p.Ile202Ile
RISN_XLRS:c.608C>T commonName Pro 203 Leu
RISN_XLRS:c.608C>T phenoCommon RS
RISN_XLRS:c.608C>T protEffect p.Pro203Leu
RISN_XLRS:c.618G>A commonName Trp 206 ter
RISN_XLRS:c.618G>A phenoCommon RS
RISN_XLRS:c.618G>A protEffect p.Trp206X
RISN_XLRS:c.621C>G commonName His 207 Gln
RISN_XLRS:c.621C>G phenoCommon RS
RISN_XLRS:c.621C>G protEffect p.His207Gln
RISN_XLRS:c.625C>T commonName Arg 209 Cys
RISN_XLRS:c.625C>T phenoCommon RS
RISN_XLRS:c.625C>T protEffect p.Arg209Cys
RISN_XLRS:c.625C>G commonName Pro 209 Gly
RISN_XLRS:c.625C>G phenoCommon RS
RISN_XLRS:c.625C>G protEffect p.Pro209Gly
RISN_XLRS:c.626G>A commonName Arg 209 His
RISN_XLRS:c.626G>A phenoCommon RS
RISN_XLRS:c.626G>A protEffect p.Arg209His
RISN_XLRS:c.631G>A commonName Ala 211 Thr
RISN_XLRS:c.631G>A phenoCommon RS
RISN_XLRS:c.631G>A protEffect p.Ala211Thr
RISN_XLRS:c.638G>A commonName Arg 213 Gln
RISN_XLRS:c.638G>A phenoCommon RS
RISN_XLRS:c.638G>A protEffect p.Arg213Gln
RISN_XLRS:c.637C>T commonName Arg 213 Trp
RISN_XLRS:c.637C>T phenoCommon RS
RISN_XLRS:c.637C>T protEffect p.Arg213Trp
RISN_XLRS:c.639delG commonName 639delG
RISN_XLRS:c.639delG phenoCommon RS
RISN_XLRS:c.643G>A commonName Glu 215 Lys
RISN_XLRS:c.643G>A phenoCommon RS
RISN_XLRS:c.643G>A protEffect p.Glu215Lys
RISN_XLRS:c.643G>C commonName Glu 215 Gln
RISN_XLRS:c.643G>C phenoCommon RS
RISN_XLRS:c.643G>C protEffect p.Glu215Gln
RISN_XLRS:c.647T>C commonName Leu 216 Pro
RISN_XLRS:c.647T>C phenoCommon RS
RISN_XLRS:c.647T>C protEffect p.Leu216Pro
RISN_XLRS:c.655T>C commonName Cys 219 Arg
RISN_XLRS:c.655T>C phenoCommon RS
RISN_XLRS:c.655T>C protEffect p.Cys219Arg
RISN_XLRS:c.655T>G commonName Cys 219 Gly
RISN_XLRS:c.655T>G phenoCommon RS
RISN_XLRS:c.655T>G protEffect p.Cys219Gly
RISN_XLRS:c.655delT commonName 655delT
RISN_XLRS:c.655delT phenoCommon RS
RISN_XLRS:c.655_679del commonName 655del25bp
RISN_XLRS:c.655_679del phenoCommon RS
RISN_XLRS:c.666G>C commonName Lys 222 Asn
RISN_XLRS:c.666G>C protEffect p.Lys222Asn
RISN_XLRS:c.675*3C>T commonName 678c/t
RISN_TYR:c.(?_1)_(819_?)del commonName Deletion Exon1
RISN_TYR:c.(?_1)_(819_?)del phenoCommon OCA1A
RISN_TYR:c.1A>G commonName Met 1 Val
RISN_TYR:c.1A>G phenoCommon AROA
RISN_TYR:c.1A>G protEffect p.Met1Val
RISN_TYR:c.2T>C commonName Met 1 Thr
RISN_TYR:c.2T>C phenoCommon OCA1A
RISN_TYR:c.2T>C protEffect p.Met1Thr
RISN_TYR:c.24delC commonName 24delC
RISN_TYR:c.24delC phenoCommon OCA1B
RISN_TYR:c.52delG commonName 52delG
RISN_TYR:c.52delG phenoCommon OCA1A
RISN_TYR:c.57T>A commonName His 19 Gln
RISN_TYR:c.57T>A phenoCommon OCA1A
RISN_TYR:c.57T>A protEffect p.His19Gln
RISN_TYR:c.61C>T commonName Pro 21 Ser
RISN_TYR:c.61C>T phenoCommon OCA1A
RISN_TYR:c.61C>T protEffect p.Pro21Ser
RISN_TYR:c.107G>A commonName Cys 36 Tyr
RISN_TYR:c.107G>A phenoCommon OCA1
RISN_TYR:c.107G>A protEffect p.Cys36Tyr
RISN_TYR:c.125A>G commonName Asp 42 Gly
RISN_TYR:c.125A>G phenoCommon OCA1A
RISN_TYR:c.125A>G protEffect p.Asp42Gly
RISN_TYR:c.140G>A commonName Gly 47 Asp
RISN_TYR:c.140G>A phenoCommon OCA1A
RISN_TYR:c.140G>A protEffect p.Gly47Asp
RISN_TYR:c.149C>G commonName Ser 50 ter
RISN_TYR:c.149C>G phenoCommon OCA1A
RISN_TYR:c.149C>G protEffect p.Ser50X
RISN_TYR:c.155G>T commonName Arg 52 Ile
RISN_TYR:c.155G>T phenoCommon OCA1A
RISN_TYR:c.155G>T protEffect p.Arg52Ile
RISN_TYR:c.164G>A commonName Cys 55 Tyr
RISN_TYR:c.164G>A phenoCommon AROA
RISN_TYR:c.164G>A protEffect p.Cys55Tyr
RISN_TYR:c.222delG commonName 223delG
RISN_TYR:c.222delG phenoCommon OCA1B
RISN_TYR:c.229C>T commonName Arg 77 Trp
RISN_TYR:c.229C>T phenoCommon OCA2
RISN_TYR:c.229C>T protEffect p.Arg77Trp
RISN_TYR:c.230G>A commonName Arg 77 Gln
RISN_TYR:c.230G>A phenoCommon OCA2
RISN_TYR:c.230G>A protEffect p.Arg77Gln
RISN_TYR:c.232G>T commonName Glu 78 ter
RISN_TYR:c.232G>T phenoCommon OCA1B
RISN_TYR:c.232G>T protEffect p.Glu78X
RISN_TYR:c.231_232insGGG commonName 232insGGG
RISN_TYR:c.231_232insGGG phenoCommon OCA1
RISN_TYR:c.238T>C commonName Trp 80 Arg
RISN_TYR:c.238T>C phenoCommon OCA1A
RISN_TYR:c.238T>C protEffect p.Trp80Arg
RISN_TYR:c.240G>A commonName Trp 80 ter
RISN_TYR:c.240G>A phenoCommon OCA1A
RISN_TYR:c.240G>A protEffect p.Trp80X
RISN_TYR:c.242C>T commonName Pro 81 Leu
RISN_TYR:c.242C>T phenoCommon OCA1A
RISN_TYR:c.242C>T protEffect p.Pro81Leu
RISN_TYR:c.265T>C commonName Cys 89 Arg
RISN_TYR:c.265T>C phenoCommon OCA1
RISN_TYR:c.265T>C protEffect p.Cys89Arg
RISN_TYR:c.286dupA commonName 286insA
RISN_TYR:c.286dupA phenoCommon OCA1A
RISN_TYR:c.289G>A commonName Gly 97 Arg
RISN_TYR:c.289G>A phenoCommon OCA1A
RISN_TYR:c.289G>A protEffect p.Gly97Arg
RISN_TYR:c.325G>A commonName Gly 109 Arg
RISN_TYR:c.325G>A phenoCommon OCA
RISN_TYR:c.325G>A protEffect p.Gly109Arg
RISN_TYR:c.336_337delCA commonName 336delCA
RISN_TYR:c.336_337delCA phenoCommon OCA
RISN_TYR:c.340_341delGA commonName 340delGA
RISN_TYR:c.340_341delGA phenoCommon OCA1A
RISN_TYR:c.346C>T commonName Arg 116 ter
RISN_TYR:c.346C>T phenoCommon OCA1A
RISN_TYR:c.346C>T protEffect p.Arg116X
RISN_TYR:c.456C>T commonName Pro 152 Ser
RISN_TYR:c.456C>T phenoCommon OCA1
RISN_TYR:c.456C>T protEffect p.Pro152Ser
RISN_TYR:c.458_459insT commonName 459insT
RISN_TYR:c.458_459insT phenoCommon OCA1
RISN_TYR:c.526T>A commonName Phe 176 Ile
RISN_TYR:c.526T>A phenoCommon OCA1
RISN_TYR:c.526T>A protEffect p.Phe176Ile
RISN_TYR:c.533G>A commonName Trp 178 ter
RISN_TYR:c.533G>A phenoCommon OCA1
RISN_TYR:c.533G>A protEffect p.Trp178X
RISN_TYR:c.568delG commonName 571delG
RISN_TYR:c.568delG phenoCommon OCA1A
RISN_TYR:c.575C>A commonName Ser 192 Tyr
RISN_TYR:c.575C>A protEffect p.Ser192Tyr
RISN_TYR:c.613C>A commonName Pro 205 Thr
RISN_TYR:c.613C>A phenoCommon OCA
RISN_TYR:c.613C>A protEffect p.Pro205Thr
RISN_TYR:c.616G>A commonName Ala 206 Thr
RISN_TYR:c.616G>A phenoCommon OCA1
RISN_TYR:c.616G>A protEffect p.Ala206Thr
RISN_TYR:c.646T>A commonName Leu 216 Met
RISN_TYR:c.646T>A phenoCommon OCA1
RISN_TYR:c.646T>A protEffect p.Leu216Met
RISN_TYR:c.649delC commonName 649delC
RISN_TYR:c.649delC phenoCommon OCA
RISN_TYR:c.649C>G commonName Arg 217 Gly
RISN_TYR:c.649C>G phenoCommon OCA1A
RISN_TYR:c.649C>G protEffect p.Arg217Gly
RISN_TYR:c.649C>T commonName Arg 217 Trp
RISN_TYR:c.649C>T phenoCommon OCA2
RISN_TYR:c.649C>T protEffect p.Arg217Trp
RISN_TYR:c.650G>A commonName Arg 217 Gln
RISN_TYR:c.650G>A phenoCommon OCA1
RISN_TYR:c.650G>A protEffect p.Arg217Gln
RISN_TYR:c.678_680delAGG commonName 678delAGG
RISN_TYR:c.678_680delAGG phenoCommon OCA
RISN_TYR:c.707G>A commonName Trp 236 ter
RISN_TYR:c.707G>A phenoCommon OCA1
RISN_TYR:c.707G>A protEffect p.Trp236X
RISN_TYR:c.707G>C commonName Trp 236 Ser
RISN_TYR:c.707G>C phenoCommon OCA1
RISN_TYR:c.707G>C protEffect p.Trp236Ser
RISN_TYR:c.730_731delTG commonName 730delTG
RISN_TYR:c.730_731delTG phenoCommon OCA1A
RISN_TYR:c.757G>A commonName Gly 253 Arg
RISN_TYR:c.757G>A phenoCommon OCA1A
RISN_TYR:c.757G>A protEffect p.Gly253Arg
RISN_TYR:c.766C>T commonName His 256 Tyr
RISN_TYR:c.766C>T phenoCommon OCA
RISN_TYR:c.766C>T protEffect p.His256Tyr
RISN_TYR:c.816G>C commonName Trp 272 Cys
RISN_TYR:c.816G>C phenoCommon OCA1
RISN_TYR:c.816G>C protEffect p.Trp272Cys
RISN_TYR:c.820-3C>G commonName IVS1-3c-g
RISN_TYR:c.820-3C>G phenoCommon OCA1
RISN_TYR:c.823G>T commonName Val 275 Phe
RISN_TYR:c.823G>T phenoCommon OCA1
RISN_TYR:c.823G>T protEffect p.Val275Phe
RISN_TYR:c.832C>T commonName Arg 278 ter
RISN_TYR:c.832C>T phenoCommon OCA1
RISN_TYR:c.832C>T protEffect p.Arg278X
RISN_TYR:c.840delG commonName 840delG
RISN_TYR:c.840delG phenoCommon OCA1
RISN_TYR:c.875C>T commonName Cys 289 Arg
RISN_TYR:c.875C>T phenoCommon OCA1A
RISN_TYR:c.875C>T protEffect p.Cys289Arg
RISN_TYR:c.891A>G commonName Glu 294 Gly
RISN_TYR:c.891A>G phenoCommon OCA1
RISN_TYR:c.891A>G protEffect p.Glu294Gly
RISN_TYR:c.895C>A commonName Arg 299 Ser
RISN_TYR:c.895C>A phenoCommon OCA1
RISN_TYR:c.895C>A protEffect p.Arg299Ser
RISN_TYR:c.896G>A commonName Arg 299 His
RISN_TYR:c.896G>A phenoCommon OCA1A
RISN_TYR:c.896G>A protEffect p.Arg299His
RISN_TYR:c.926dupC commonName 926insC
RISN_TYR:c.926dupC phenoCommon OCA1A
RISN_TYR:c.934C>G commonName Leu 312 Val
RISN_TYR:c.934C>G phenoCommon OCA1A
RISN_TYR:c.934C>G protEffect p.Leu312Val
RISN_TYR:c.938C>G commonName Pro 313 Arg
RISN_TYR:c.938C>G phenoCommon OCA1A
RISN_TYR:c.938C>G protEffect p.Pro313Arg
RISN_TYR:c.973A>G commonName Thr 325 Ala
RISN_TYR:c.973A>G phenoCommon OCA1B
RISN_TYR:c.973A>G protEffect p.Thr325Ala
RISN_TYR:c.982G>C commonName Glu 328 Gln
RISN_TYR:c.982G>C phenoCommon OCA1
RISN_TYR:c.982G>C protEffect p.Glu328Gln
RISN_TYR:c.1015A>G commonName Ser 339 Gly
RISN_TYR:c.1015A>G phenoCommon OCA1A
RISN_TYR:c.1015A>G protEffect p.Ser339Gly
RISN_TYR:c.1018T>C commonName Phe 340 Leu
RISN_TYR:c.1018T>C phenoCommon OCA1B
RISN_TYR:c.1018T>C protEffect p.Phe340Leu
RISN_TYR:c.1037-7T>A commonName IVS2-7t-a
RISN_TYR:c.1037-7T>A phenoCommon OCA1B
RISN_TYR:c.1037-1G>A commonName IVS2-1g-a
RISN_TYR:c.1037-1G>A phenoCommon OCA1B
RISN_TYR:c.1063G>C commonName Ala 355 Pro
RISN_TYR:c.1063G>C phenoCommon OCA1B
RISN_TYR:c.1063G>C protEffect p.Ala355Pro
RISN_TYR:c.1075C>T commonName Gln 359 ter
RISN_TYR:c.1075C>T phenoCommon OCA1A
RISN_TYR:c.1075C>T protEffect p.Gln359X
RISN_TYR:c.1081A>C commonName Ser 361 Arg
RISN_TYR:c.1081A>C phenoCommon OCA1A
RISN_TYR:c.1081A>C protEffect p.Ser361Arg
RISN_TYR:c.1100A>G commonName His 367 Arg
RISN_TYR:c.1100A>G phenoCommon OCA1A
RISN_TYR:c.1100A>G protEffect p.His367Arg
RISN_TYR:c.1109T>C commonName Met 370 Thr
RISN_TYR:c.1109T>C phenoCommon OCA1
RISN_TYR:c.1109T>C protEffect p.Met370Thr
RISN_TYR:c.1111A>T commonName Asn 371 Tyr
RISN_TYR:c.1111A>T phenoCommon OCA1A
RISN_TYR:c.1111A>T protEffect p.Asn371Tyr
RISN_TYR:c.1112A>C commonName Asn 371 Thr
RISN_TYR:c.1112A>C phenoCommon OCA1A
RISN_TYR:c.1112A>C protEffect p.Asn371Thr
RISN_TYR:c.1118C>A commonName Thr 373 Lys
RISN_TYR:c.1118C>A phenoCommon OCA1A
RISN_TYR:c.1118C>A protEffect p.Thr373Lys
RISN_TYR:c.1126C>T commonName Gln 376 ter
RISN_TYR:c.1126C>T phenoCommon OCA1A
RISN_TYR:c.1126C>T protEffect p.Gln376X
RISN_TYR:c.1132C>T commonName Gln 378 ter
RISN_TYR:c.1132C>T phenoCommon OCA1A
RISN_TYR:c.1132C>T protEffect p.Gln378X
RISN_TYR:c.1138T>C commonName Ser 380 Pro
RISN_TYR:c.1138T>C phenoCommon OCA1B
RISN_TYR:c.1138T>C protEffect p.Ser380Pro
RISN_TYR:c.1146C>A commonName Asn 382 Lys
RISN_TYR:c.1146C>A phenoCommon OCA1A
RISN_TYR:c.1146C>A protEffect p.Asn382Lys
RISN_TYR:c.1147G>A commonName Asp 383 Asn
RISN_TYR:c.1147G>A phenoCommon OCA1A
RISN_TYR:c.1147G>A protEffect p.Asp383Asn
RISN_TYR:c.1160delT commonName 1161delT
RISN_TYR:c.1160delT phenoCommon OCA1A
RISN_TYR:c.1163delT commonName 1163delT
RISN_TYR:c.1163delT phenoCommon OCA2
RISN_TYR:c.1168C>G commonName His 390 Asp
RISN_TYR:c.1168C>G phenoCommon OCA1B
RISN_TYR:c.1168C>G protEffect p.His390Asp
RISN_TYR:c.1183A>G commonName Ser 395 Asp
RISN_TYR:c.1183A>G phenoCommon OCA1A
RISN_TYR:c.1183A>G protEffect p.Ser395Asp
RISN_TYR:c.1199G>T commonName Trp 400 Leu
RISN_TYR:c.1199G>T phenoCommon OCA1
RISN_TYR:c.1199G>T protEffect p.Trp400Leu
RISN_TYR:c.1204C>T commonName Arg 402 ter
RISN_TYR:c.1204C>T phenoCommon OCA1A
RISN_TYR:c.1204C>T protEffect p.Arg402X
RISN_TYR:c.1205G>A commonName Arg 402 Gln
RISN_TYR:c.1205G>A protEffect p.Arg402Gln
RISN_TYR:c.1209G>T commonName Arg 403 Ser
RISN_TYR:c.1209G>T phenoCommon OCA1B
RISN_TYR:c.1209G>T protEffect p.Arg403Ser
RISN_TYR:c.1211A>C commonName His 404 Pro
RISN_TYR:c.1211A>C phenoCommon OCA1A
RISN_TYR:c.1211A>C protEffect p.His404Pro
RISN_TYR:c.1217C>T commonName Pro 406 Leu
RISN_TYR:c.1217C>T phenoCommon OCA1B
RISN_TYR:c.1217C>T protEffect p.Pro406Leu
RISN_TYR:c.1255G>A commonName Gly 419 Arg
RISN_TYR:c.1255G>A phenoCommon OCA1A
RISN_TYR:c.1255G>A protEffect p.Gly419Arg
RISN_TYR:c.1265G>A commonName Arg 422 Gln
RISN_TYR:c.1265G>A phenoCommon OCA1TS
RISN_TYR:c.1265G>A protEffect p.Arg422Gln
RISN_TYR:c.1292C>T commonName Pro 431 Leu
RISN_TYR:c.1292C>T phenoCommon OCA1A
RISN_TYR:c.1292C>T protEffect p.Pro431Leu
RISN_TYR:c.1314_1317delCTTT commonName 1314delCTTT
RISN_TYR:c.1314_1317delCTTT phenoCommon OCA1A
RISN_TYR:c.1315T>G commonName Phe 439 Val
RISN_TYR:c.1315T>G phenoCommon OCA1
RISN_TYR:c.1315T>G protEffect p.Phe439Val
RISN_TYR:c.1336G>A commonName Gly 446 Ser
RISN_TYR:c.1336G>A phenoCommon OCA1A
RISN_TYR:c.1336G>A protEffect p.Gly446Ser
RISN_TYR:c.1342G>A commonName Asp 448 Asn
RISN_TYR:c.1342G>A phenoCommon OCA1A
RISN_TYR:c.1342G>A protEffect p.Asp448Asn
RISN_TYR:c.1357C>T commonName Gln 453 ter
RISN_TYR:c.1357C>T phenoCommon OCA1A
RISN_TYR:c.1357C>T protEffect p.Gln453X
RISN_TYR:c.1366+5A>G commonName IVS4+5a-g
RISN_TYR:c.1366+5A>G phenoCommon OCA1B
RISN_TYR:c.1366+4A>G commonName IVS4+4a-g
RISN_TYR:c.1366+4A>G phenoCommon OCA1B
RISN_TYR:c.1467dupT commonName 1467insT
RISN_TYR:c.1467dupT phenoCommon OCA1A
RISN_TYR:c.1501dupC commonName 1501insC
RISN_TYR:c.1501dupC phenoCommon OCA1A
RISN_TYR:c.-301C>T commonName -301c/t
RISN_TYR:c.-199C>A commonName -199c/a
RISN_TYR:c.-658delC commonName -658del c
RISN_TYR:c.-683_-682insG commonName -682ins g
RISN_TYR:c.-692_-691insC commonName -691ins c
RISN_TYR:c.-802_-801insGAGAGGGAGA commonName -801ins gagagggaga
RISN_RDS:c.2T>C commonName Met 1 Thr
RISN_RDS:c.2T>C phenoCommon Adult vitelliform macular dystrophy
RISN_RDS:c.2T>C protEffect p.Met1Thr
RISN_RDS:c.37C>T commonName Arg 13 Trp
RISN_RDS:c.37C>T phenoCommon Digenic RP
RISN_RDS:c.37C>T protEffect p.Arg13Trp
RISN_RDS:c.37C>A commonName Arg 13 Trp
RISN_RDS:c.37C>A phenoCommon ADRP
RISN_RDS:c.37C>A protEffect p.Arg13Trp
RISN_RDS:c.73_74delTG commonName 73delTG
RISN_RDS:c.73_74delTG phenoCommon Retinitis punctata albescens, ad
RISN_RDS:c.80C>T commonName Ser 27 Phe
RISN_RDS:c.80C>T phenoCommon COD
RISN_RDS:c.80C>T protEffect p.Ser27Phe
RISN_RDS:c.94A>G commonName Ile 32 Val
RISN_RDS:c.94A>G phenoCommon Age related macular dystrophy
RISN_RDS:c.94A>G protEffect p.Ile32Val
RISN_RDS:c.96_97insC commonName 97insC
RISN_RDS:c.96_97insC phenoCommon ADRP
RISN_RDS:c.113delG commonName 113delG
RISN_RDS:c.113delG phenoCommon Adult Onset Foveomacular Dystrophy
RISN_RDS:c.133C>T commonName Leu 45 Phe
RISN_RDS:c.133C>T phenoCommon Digenic RP
RISN_RDS:c.133C>T protEffect p.Leu45Phe
RISN_RDS:c.136C>T commonName Arg 46 ter
RISN_RDS:c.136C>T phenoCommon Diffuse retinal degeneration
RISN_RDS:c.136C>T protEffect p.Arg46X
RISN_RDS:c.198_202delinsAAGACAGA commonName 198GATGG>AAGACAGA
RISN_RDS:c.198_202delinsAAGACAGA phenoCommon ADRP
RISN_RDS:c.199_201delATG commonName 199delATG
RISN_RDS:c.199_201delATG phenoCommon Pattern dystrophy
RISN_RDS:c.202G>A commonName Gly 68 Arg
RISN_RDS:c.202G>A phenoCommon ADRP
RISN_RDS:c.202G>A protEffect p.Gly68Arg
RISN_RDS:c.249C>T commonName Tyr 83 Tyr
RISN_RDS:c.249C>T protEffect p.Tyr83Tyr
RISN_RDS:c.303C>T commonName Tyr 101 Tyr
RISN_RDS:c.303C>T protEffect p.Tyr101Tyr
RISN_RDS:c.318C>T commonName Val 106 Val
RISN_RDS:c.318C>T protEffect p.Val106Val
RISN_RDS:c.355_357delTGC commonName 355delTGC
RISN_RDS:c.355_357delTGC phenoCommon ADRP
RISN_RDS:c.371delG commonName 371delG
RISN_RDS:c.371delG phenoCommon CRD
RISN_RDS:c.376C>G commonName Leu 126 Arg
RISN_RDS:c.376C>G phenoCommon ADRP
RISN_RDS:c.376C>G protEffect p.Leu126Arg
RISN_RDS:c.421T>C commonName Tyr 141 His
RISN_RDS:c.421T>C phenoCommon ADRP
RISN_RDS:c.421T>C protEffect p.Tyr141His
RISN_RDS:c.422A>G commonName Tyr 141 Cys
RISN_RDS:c.422A>G phenoCommon ADRP
RISN_RDS:c.422A>G protEffect p.Tyr141Cys
RISN_RDS:c.423_424insTACT commonName 424insTACT
RISN_RDS:c.423_424insTACT phenoCommon Pattern dystrophy
RISN_RDS:c.424C>T commonName Arg 142 Trp
RISN_RDS:c.424C>T phenoCommon CACD
RISN_RDS:c.424C>T protEffect p.Arg142Trp
RISN_RDS:c.441delT commonName 441delT
RISN_RDS:c.441delT phenoCommon CACD
RISN_RDS:c.458A>G commonName Lys 153 Arg
RISN_RDS:c.458A>G phenoCommon ADRP
RISN_RDS:c.458A>G protEffect p.Lys153Arg
RISN_RDS:c.460_462delAAG commonName 460delAAG
RISN_RDS:c.460_462delAAG phenoCommon Fundus flavimaculatus
RISN_RDS:c.469G>A commonName Asp 157 Asn
RISN_RDS:c.469G>A phenoCommon Pattern dystrophy
RISN_RDS:c.469G>A protEffect p.Asp157Asn
RISN_RDS:c.494G>A commonName Cys 165 Tyr
RISN_RDS:c.494G>A phenoCommon ADRP
RISN_RDS:c.494G>A protEffect p.Cys165Tyr
RISN_RDS:c.500G>A commonName Gly 167 Asp
RISN_RDS:c.500G>A phenoCommon Butterfly shaped pigment dystrophy
RISN_RDS:c.500G>A protEffect p.Gly167Asp
RISN_RDS:c.505_507delAAC commonName 505delAAC
RISN_RDS:c.505_507delAAC phenoCommon MD
RISN_RDS:c.508G>A commonName Gly 170 Ser
RISN_RDS:c.508G>A phenoCommon CRD
RISN_RDS:c.508G>A protEffect p.Gly170Ser
RISN_RDS:c.514C>G commonName Arg 172 Gly
RISN_RDS:c.514C>G phenoCommon CACD
RISN_RDS:c.514C>G protEffect p.Arg172Gly
RISN_RDS:c.514C>T commonName Arg 172 Trp
RISN_RDS:c.514C>T phenoCommon MD
RISN_RDS:c.514C>T protEffect p.Arg172Trp
RISN_RDS:c.515G>A commonName Arg 172 Gln
RISN_RDS:c.515G>A phenoCommon MD
RISN_RDS:c.515G>A protEffect p.Arg172Gln
RISN_RDS:c.518A>T commonName Asp 173 Val
RISN_RDS:c.518A>T phenoCommon ADRP
RISN_RDS:c.518A>T protEffect p.Asp173Val
RISN_RDS:c.533A>G commonName Gln 178 Arg
RISN_RDS:c.533A>G phenoCommon RP
RISN_RDS:c.533A>G protEffect p.Gln178Arg
RISN_RDS:c.535T>C commonName Trp 179 Arg
RISN_RDS:c.535T>C phenoCommon ADRP
RISN_RDS:c.535T>C protEffect p.Trp179Arg
RISN_RDS:c.551A>C commonName Tyr 184 Ser
RISN_RDS:c.551A>C phenoCommon Cone-Rod dystrophy
RISN_RDS:c.551A>C protEffect p.Tyr184Ser
RISN_RDS:c.554T>C commonName Leu 185 Pro
RISN_RDS:c.554T>C phenoCommon Digenic RP
RISN_RDS:c.554T>C protEffect p.Leu185Pro
RISN_RDS:c.577_579delAAA commonName 577delAAA
RISN_RDS:c.577_579delAAA phenoCommon Pattern Dystrophy
RISN_RDS:c.578_579delAA commonName 578delAA
RISN_RDS:c.578_579delAA phenoCommon ADRP
RISN_RDS:c.(?_582)_(1038_?)del commonName Microdeletion
RISN_RDS:c.(?_582)_(1038_?)del phenoCommon ADRP
RISN_RDS:c.584G>T commonName Arg 195 Leu
RISN_RDS:c.584G>T phenoCommon CACD
RISN_RDS:c.584G>T protEffect p.Arg195Leu
RISN_RDS:c.589A>G commonName Lys 197 Glu
RISN_RDS:c.589A>G phenoCommon Cone-Rod dystrophy
RISN_RDS:c.589A>G protEffect p.Lys197Glu
RISN_RDS:c.599T>A commonName Val 200 Glu
RISN_RDS:c.599T>A phenoCommon ADRP
RISN_RDS:c.599T>A protEffect p.Val200Glu
RISN_RDS:c.609_625del commonName 609del17bp
RISN_RDS:c.609_625del phenoCommon MD
RISN_RDS:c.616_627delGTGGACGGCGTC commonName 616delGTGGACGGCGTC
RISN_RDS:c.616_627delGTGGACGGCGTC phenoCommon ADRP
RISN_RDS:c.623_624insG commonName 624insG
RISN_RDS:c.623_624insG phenoCommon Pattern Dystrophy
RISN_RDS:c.628C>T commonName Pro 210 Ser
RISN_RDS:c.628C>T phenoCommon ADRP
RISN_RDS:c.628C>T protEffect p.Pro210Ser
RISN_RDS:c.629C>G commonName Pro 210 Arg
RISN_RDS:c.629C>G phenoCommon Foveomacular dystrophy
RISN_RDS:c.629C>G protEffect p.Pro210Arg
RISN_RDS:c.629C>T commonName Pro 210 Leu
RISN_RDS:c.629C>T phenoCommon ADRP
RISN_RDS:c.629C>T protEffect p.Pro210Leu
RISN_RDS:c.633C>A commonName Phe 211 Leu
RISN_RDS:c.633C>A phenoCommon ADRP
RISN_RDS:c.633C>A protEffect p.Phe211Leu
RISN_RDS:c.634A>G commonName Ser 212 Gly
RISN_RDS:c.634A>G phenoCommon ADRP
RISN_RDS:c.634A>G protEffect p.Ser212Gly
RISN_RDS:c.635G>C commonName Ser 212 Thr
RISN_RDS:c.635G>C phenoCommon Adult vitelliform macular dystrophy
RISN_RDS:c.635G>C protEffect p.Ser212Thr
RISN_RDS:c.637T>C commonName Cys 213 Arg
RISN_RDS:c.637T>C phenoCommon Pattern dystrophy
RISN_RDS:c.637T>C protEffect p.Cys213Arg
RISN_RDS:c.638G>A commonName Cys 213 Tyr
RISN_RDS:c.638G>A phenoCommon Pattern dystrophy
RISN_RDS:c.638G>A protEffect p.Cys213Tyr
RISN_RDS:c.641G>C commonName Cys 214 Ser
RISN_RDS:c.641G>C phenoCommon ADRP
RISN_RDS:c.641G>C protEffect p.Cys214Ser
RISN_RDS:c.641G>A commonName Cys 214 Tyr
RISN_RDS:c.641G>A phenoCommon ADRP
RISN_RDS:c.641G>A protEffect p.Cys214Tyr
RISN_RDS:c.646C>T commonName Pro 216 Ser
RISN_RDS:c.646C>T phenoCommon ADRP
RISN_RDS:c.646C>T protEffect p.Pro216Ser
RISN_RDS:c.647C>T commonName Pro 216 Leu
RISN_RDS:c.647C>T phenoCommon ADRP
RISN_RDS:c.647C>T protEffect p.Pro216Leu
RISN_RDS:c.656_658delCAC commonName 656delCAC
RISN_RDS:c.656_658delCAC phenoCommon ADRP
RISN_RDS:c.656C>G commonName Pro 219 Arg
RISN_RDS:c.656C>G phenoCommon MD
RISN_RDS:c.656C>G protEffect p.Pro219Arg
RISN_RDS:c.658C>T commonName Arg 220 Trp
RISN_RDS:c.658C>T phenoCommon Pattern dystrophy
RISN_RDS:c.658C>T protEffect p.Arg220Trp
RISN_RDS:c.659G>A commonName Arg 220 Gln
RISN_RDS:c.659G>A phenoCommon Pattern dystrophy
RISN_RDS:c.659G>A protEffect p.Arg220Gln
RISN_RDS:c.672_673ins37 commonName 673ins37bp
RISN_RDS:c.672_673ins37 phenoCommon Adult Vitelliform Macular Dystrophy
RISN_RDS:c.676C>G commonName Gln 226 Asp
RISN_RDS:c.676C>G phenoCommon ADRP
RISN_RDS:c.676C>G protEffect p.Gln226Asp
RISN_RDS:c.700_701insT commonName 701insT
RISN_RDS:c.700_701insT phenoCommon Pattern dystrophy
RISN_RDS:c.708C>T commonName Tyr 236 Tyr
RISN_RDS:c.708C>T protEffect p.Tyr236Tyr
RISN_RDS:c.715C>T commonName Gln 239 ter
RISN_RDS:c.715C>T phenoCommon Pattern dystrophy
RISN_RDS:c.715C>T protEffect p.Gln239X
RISN_RDS:c.730A>C commonName Asn 244 His
RISN_RDS:c.730A>C phenoCommon MD
RISN_RDS:c.730A>C protEffect p.Asn244His
RISN_RDS:c.732C>G commonName Asn 244 Lys
RISN_RDS:c.732C>G phenoCommon Cone-Rod dystrophy
RISN_RDS:c.732C>G protEffect p.Asn244Lys
RISN_RDS:c.732C>A commonName Asn 244 Lys
RISN_RDS:c.732C>A phenoCommon ADRP + Bull´s Eye Maculopathy
RISN_RDS:c.732C>A protEffect p.Asn244Lys
RISN_RDS:c.736T>C commonName Trp 246 Arg
RISN_RDS:c.736T>C phenoCommon ADRP
RISN_RDS:c.736T>C protEffect p.Trp246Arg
RISN_RDS:c.773A>C commonName Tyr 258 ter
RISN_RDS:c.773A>C phenoCommon MD
RISN_RDS:c.773A>C protEffect p.Tyr258X
RISN_RDS:c.797G>A commonName Gly 266 Asp
RISN_RDS:c.797G>A phenoCommon ADRP
RISN_RDS:c.797G>A protEffect p.Gly266Asp
RISN_RDS:c.802G>A commonName Val 268 Ile
RISN_RDS:c.802G>A phenoCommon Adult vitelliform macular dystrophy
RISN_RDS:c.802G>A protEffect p.Val268Ile
RISN_RDS:c.824_825delTC commonName 824delTC
RISN_RDS:c.824_825delTC phenoCommon MD
RISN_RDS:c.828+21_828+22ins7 commonName IVS2+22ins7bp
RISN_RDS:c.828+21_828+22ins7 phenoCommon MD
RISN_RDS:c.828+3A>T commonName IVS2+3A>T
RISN_RDS:c.828+3A>T phenoCommon Adult dominant retinal degeneration
RISN_RDS:c.855C>A commonName Tyr 285 ter
RISN_RDS:c.855C>A phenoCommon Pattern Dystrophy
RISN_RDS:c.855C>A protEffect p.Tyr285X
RISN_RDS:c.866C>T commonName Ser 289 Leu
RISN_RDS:c.866C>T phenoCommon Cone Dystrophy
RISN_RDS:c.866C>T protEffect p.Ser289Leu
RISN_RDS:c.897_898delTG commonName 897delTG
RISN_RDS:c.897_898delTG phenoCommon Butterfly shaped pigment dystrophy
RISN_RDS:c.904G>T commonName Glu 302 ter
RISN_RDS:c.904G>T phenoCommon Pseudovitelliform macular dystrophy
RISN_RDS:c.904G>T protEffect p.Glu302X
RISN_RDS:c.910G>C commonName Glu 304 Gln
RISN_RDS:c.910G>C protEffect p.Glu304Gln
RISN_RDS:c.914_922del commonName 914del9bp
RISN_RDS:c.914_922del phenoCommon ADRP
RISN_RDS:c.914G>A commonName Gly 305 Asp
RISN_RDS:c.914G>A phenoCommon Adult vitelliform macular dystrophy
RISN_RDS:c.914G>A protEffect p.Gly305Asp
RISN_RDS:c.920delT commonName 920delT
RISN_RDS:c.920delT phenoCommon ADRP
RISN_RDS:c.929A>G commonName Lys 310 Arg
RISN_RDS:c.929A>G protEffect p.Lys310Arg
RISN_RDS:c.938C>T commonName Pro 313 Leu
RISN_RDS:c.938C>T protEffect p.Pro313Leu
RISN_RDS:c.947G>A commonName Trp 316 ter
RISN_RDS:c.947G>A phenoCommon Adult vitelliform macular dystrophy
RISN_RDS:c.947G>A protEffect p.Trp316X
RISN_RDS:c.991C>T commonName Gln 331 ter
RISN_RDS:c.991C>T phenoCommon Pattern Dystrophy
RISN_RDS:c.991C>T protEffect p.Gln331X
RISN_RDS:c.1013G>A commonName Gly 338 Asp
RISN_RDS:c.1013G>A protEffect p.Gly338Asp
RISN_RDS:c.1038*148A>G commonName 1426a/g
RISN_RDS:c.1038*549A>G commonName 1587a/g
RISN_RDS:c.1038*768T>C commonName 1806t/c
RISN_RDS:c.1891_1894del commonName 1891del4bp
RISN_RDS:c.1038*904A>C commonName 1942a/c
RISN_RDS:c.1038*1007A>C commonName 2045a/c
RISN_RDS:c.1038*1363T>C commonName 2401t/c
RISN_RDS:c.1038*1381T>C commonName 2419t/c
RISN_CRX:c.21dupG commonName 21insG
RISN_CRX:c.21dupG phenoCommon LCA
RISN_CRX:c.100+12C>T commonName IVS1+12c/t
RISN_CRX:c.100+12C>T phenoCommon Rare variant
RISN_CRX:c.100+2T>C commonName IVS1+2t/c
RISN_CRX:c.101-13C>G commonName IVS1-13c/g
RISN_CRX:c.101-65A>T commonName IVS1-65a/t
RISN_CRX:c.121C>T commonName Arg 41 Trp
RISN_CRX:c.121C>T phenoCommon CORD2
RISN_CRX:c.121C>T protEffect p.Arg41Trp
RISN_CRX:c.122G>A commonName Arg 41 Gln
RISN_CRX:c.122G>A phenoCommon isolate RP
RISN_CRX:c.122G>A protEffect p.Arg41Gln
RISN_CRX:c.166G>A commonName Ala 56 Thr
RISN_CRX:c.166G>A phenoCommon LCA
RISN_CRX:c.166G>A protEffect p.Ala56Thr
RISN_CRX:c.196G>A commonName Val 66 Ile
RISN_CRX:c.196G>A protEffect p.Val66Ile
RISN_CRX:c.238G>A commonName Glu 80 Lys
RISN_CRX:c.238G>A phenoCommon CORD2
RISN_CRX:c.238G>A protEffect p.Glu80Lys
RISN_CRX:c.239A>C commonName Glu 80 Ala
RISN_CRX:c.239A>C phenoCommon CORD2
RISN_CRX:c.239A>C protEffect p.Glu80Ala
RISN_CRX:c.253-15G>A commonName IVS2-15g/a
RISN_CRX:c.253-18T>A commonName IVS2-18t/a
RISN_CRX:p.Arg90Trp commonName Arg 90 Trp
RISN_CRX:p.Arg90Trp phenoCommon LCA
RISN_CRX:p.Arg90Trp protEffect p.Arg90Trp
RISN_CRX:c.335C>T commonName Ala 112 Val
RISN_CRX:c.335C>T phenoCommon LCA?
RISN_CRX:c.335C>T protEffect p.Ala112Val
RISN_CRX:c.351dupC commonName 351ins C
RISN_CRX:c.351dupC phenoCommon CORD2
RISN_CRX:c.365G>A commonName Gly 122 Asp
RISN_CRX:c.365G>A phenoCommon ADRP
RISN_CRX:c.365G>A protEffect p.Gly122Asp
RISN_CRX:c.425A>G commonName Tyr 142 Cys
RISN_CRX:c.425A>G protEffect p.Tyr142Cys
RISN_CRX:c.436_447del commonName 436del12bp
RISN_CRX:c.436_447del phenoCommon ADRP
RISN_CRX:c.444dupC commonName 444insC
RISN_CRX:c.472G>A commonName Ala 158 Thr
RISN_CRX:c.472G>A phenoCommon CORD2
RISN_CRX:c.472G>A protEffect p.Ala158Thr
RISN_CRX:c.501_502delAG commonName 503delAG
RISN_CRX:c.501_502delAG phenoCommon LCA
RISN_CRX:c.505delT commonName 505delT
RISN_CRX:c.505delT phenoCommon LCA
RISN_CRX:c.519delG commonName 519delG
RISN_CRX:c.529delG commonName 529delG
RISN_CRX:c.529delG phenoCommon LCA
RISN_CRX:c.541delG commonName 541delG
RISN_CRX:c.549G>A commonName Gly 183 Gly
RISN_CRX:c.549G>A protEffect p.Gly183Gly
RISN_CRX:c.571delT commonName 571delT
RISN_CRX:c.571delT phenoCommon LCA / CRD
RISN_CRX:c.585dupC commonName 585insC
RISN_CRX:c.585dupC phenoCommon CORD2
RISN_CRX:c.587_590delCCCC commonName 587delCCCC
RISN_CRX:c.587_590delCCCC phenoCommon CORD2
RISN_CRX:c.597C>T commonName Ser 199 Ser
RISN_CRX:c.597C>T protEffect p.Ser199Ser
RISN_CRX:c.613delC commonName 613delC
RISN_CRX:c.613delC phenoCommon CORD2
RISN_CRX:c.649delG commonName 649delG
RISN_CRX:c.649delG phenoCommon LCA
RISN_CRX:c.705delC commonName 705delC
RISN_CRX:c.705delC phenoCommon LCA
RISN_CRX:c.724G>A commonName Val 242 Met
RISN_CRX:c.724G>A phenoCommon CORD2
RISN_CRX:c.724G>A protEffect p.Val242Met
RISN_CRX:c.bp_720dup commonName 742ins23bp dup720-742
RISN_CRX:c.753delC commonName 753delC
RISN_CRX:c.786delC commonName 786delC
RISN_CRX:c.786delC phenoCommon LCA / CRD
RISN_CRX:c.818C>T commonName Thr 273 Met
RISN_CRX:c.818C>T protEffect p.Thr273Met
RISN_GC1:c.2T>A commonName Met 1 Lys
RISN_GC1:c.2T>A protEffect p.Met1Lys
RISN_GC1:c.3G>A commonName Met 1 Ile
RISN_GC1:c.3G>A phenoCommon CORD
RISN_GC1:c.3G>A protEffect p.Met1Ile
RISN_GC1:c.3G>C commonName Met 1 Ile
RISN_GC1:c.3G>C phenoCommon CORD
RISN_GC1:c.3G>C protEffect p.Met1Ile
RISN_GC1:c.52_99dup commonName 52dup48bp
RISN_GC1:c.52_99dup phenoCommon CORD
RISN_GC1:c.61T>C commonName Trp 21 Arg
RISN_GC1:c.61T>C protEffect p.Trp21Arg
RISN_GC1:c.87dupC commonName 87insC
RISN_GC1:c.121C>T commonName Leu 41 Phe
RISN_GC1:c.121C>T phenoCommon CORD?
RISN_GC1:c.121C>T protEffect p.Leu41Phe
RISN_GC1:c.154G>T commonName Ala 52 Ser
RISN_GC1:c.154G>T protEffect p.Ala52Ser
RISN_GC1:c.226_239del commonName 226del14bp
RISN_GC1:c.226_239del phenoCommon CORD
RISN_GC1:c.289G>C commonName Glu 97 Gln
RISN_GC1:c.289G>C protEffect p.Glu97Gln
RISN_GC1:c.307G>A commonName Glu 103 Lys
RISN_GC1:c.307G>A protEffect p.Glu103Lys
RISN_GC1:c.314G>A commonName Cys 105 Tyr
RISN_GC1:c.314G>A phenoCommon LCA
RISN_GC1:c.314G>A protEffect p.Cys105Tyr
RISN_GC1:c.387delC commonName 387delC
RISN_GC1:c.387delC phenoCommon CORD
RISN_GC1:c.387C>A commonName Asn 129 Lys
RISN_GC1:c.387C>A phenoCommon CORD
RISN_GC1:c.387C>A protEffect p.Asn129Lys
RISN_GC1:c.620delC commonName 620delC
RISN_GC1:c.620delC phenoCommon CORD
RISN_GC1:c.779T>C commonName Leu 260 Pro
RISN_GC1:c.779T>C protEffect p.Leu260Pro
RISN_GC1:c.935C>T commonName Thr 312 Met
RISN_GC1:c.935C>T phenoCommon LCA
RISN_GC1:c.935C>T protEffect p.Thr312Met
RISN_GC1:c.937C>T commonName Arg 313 Cys
RISN_GC1:c.937C>T phenoCommon CORD
RISN_GC1:c.937C>T protEffect p.Arg313Cys
RISN_GC1:c.974T>C commonName Leu 325 Pro
RISN_GC1:c.974T>C phenoCommon LCA
RISN_GC1:c.974T>C protEffect p.Leu325Pro
RISN_GC1:c.1052A>G commonName Tyr 351 Cys
RISN_GC1:c.1052A>G protEffect p.Tyr351Cys
RISN_GC1:c.1084G>T commonName Ala 362 Ser
RISN_GC1:c.1084G>T protEffect p.Ala362Ser
RISN_GC1:c.1236C>T commonName Asp 412 Asp
RISN_GC1:c.1236C>T protEffect p.Asp412Asp
RISN_GC1:c.1343C>A commonName Ser 448 ter
RISN_GC1:c.1343C>A phenoCommon CORD
RISN_GC1:c.1343C>A protEffect p.Ser448X
RISN_GC1:c.1379-28A>G commonName IVS4-28a/g
RISN_GC1:c.1424_1431dup commonName 1424-1431dup
RISN_GC1:c.1424_1431dup phenoCommon LCA
RISN_GC1:c.1537C>T commonName Leu 513 Phe
RISN_GC1:c.1537C>T protEffect p.Leu513Phe
RISN_GC1:c.1566+2T>C commonName IVS6+2t>c
RISN_GC1:c.1615A>G commonName Ile 539 Val
RISN_GC1:c.1615A>G phenoCommon LCA
RISN_GC1:c.1615A>G protEffect p.Ile539Val
RISN_GC1:c.1618C>T commonName Arg 540 Cys
RISN_GC1:c.1618C>T phenoCommon CORD
RISN_GC1:c.1618C>T protEffect p.Arg540Cys
RISN_GC1:c.1694T>C commonName Phe 565 Ser
RISN_GC1:c.1694T>C phenoCommon LCA
RISN_GC1:c.1694T>C protEffect p.Phe565Ser
RISN_GC1:c.1717A>G commonName Ile 573 Val
RISN_GC1:c.1717A>G phenoCommon LCA
RISN_GC1:c.1717A>G protEffect p.Ile573Val
RISN_GC1:c.1724C>T commonName Pro 575 Leu
RISN_GC1:c.1724C>T phenoCommon LCA
RISN_GC1:c.1724C>T protEffect p.Pro575Leu
RISN_GC1:c.1806_1830del commonName 1806del25bp
RISN_GC1:c.1806_1830del phenoCommon CORD
RISN_GC1:c.1956+2T>A commonName IVS9+2t>a
RISN_GC1:c.1956+2T>A phenoCommon CORD
RISN_GC1:c.1957-1G>T commonName IVS9-1g>t
RISN_GC1:c.1957-1G>T phenoCommon CORD
RISN_GC1:c.1957-1G>A commonName IVS9-1g>a
RISN_GC1:c.1957-1G>A phenoCommon CORD
RISN_GC1:c.1957G>A commonName Gly 653 Arg
RISN_GC1:c.1957G>A protEffect p.Gly653Arg
RISN_GC1:c.1978C>T commonName Arg 660 ter
RISN_GC1:c.1978C>T phenoCommon LCA
RISN_GC1:c.1978C>T protEffect p.Arg660X
RISN_GC1:c.1979G>A commonName Arg 660 Gln
RISN_GC1:c.1979G>A phenoCommon LCA
RISN_GC1:c.1979G>A protEffect p.Arg660Gln
RISN_GC1:c.2078_2085del commonName 2078del8bp
RISN_GC1:c.2080C>A commonName Glu 694 Lys
RISN_GC1:c.2080C>A protEffect p.Glu694Lys
RISN_GC1:c.2101C>T commonName Pro 701 Ser
RISN_GC1:c.2101C>T phenoCommon ARRP
RISN_GC1:c.2101C>T protEffect p.Pro701Ser
RISN_GC1:c.2109G>A commonName Ala 703 Ala
RISN_GC1:c.2109G>A protEffect p.Ala703Ala
RISN_GC1:c.2237A>G commonName Tyr 746 Cys
RISN_GC1:c.2237A>G phenoCommon LCA
RISN_GC1:c.2237A>G protEffect p.Tyr746Cys
RISN_GC1:c.2248G>T commonName Glu 750 ter
RISN_GC1:c.2248G>T protEffect p.Glu750X
RISN_GC1:c.2302C>T commonName Arg 768 Trp
RISN_GC1:c.2302C>T phenoCommon LCA
RISN_GC1:c.2302C>T protEffect p.Arg768Trp
RISN_GC1:c.2317A>C commonName Met 773 Leu
RISN_GC1:c.2317A>C phenoCommon LCA
RISN_GC1:c.2317A>C protEffect p.Met773Leu
RISN_GC1:c.2346C>A commonName Leu 782 His
RISN_GC1:c.2346C>A phenoCommon Rare Variant
RISN_GC1:c.2346C>A protEffect p.Leu782His
RISN_GC1:c.2384G>T commonName Arg 795 Leu
RISN_GC1:c.2384G>T phenoCommon LCA
RISN_GC1:c.2384G>T protEffect p.Arg795Leu
RISN_GC1:c.2511G>C commonName Glu 837 Asp
RISN_GC1:c.2511G>C phenoCommon CORD
RISN_GC1:c.2511G>C protEffect p.Glu837Asp
RISN_GC1:c.2512C>T commonName Arg 838 Cys
RISN_GC1:c.2512C>T phenoCommon CORD6 = CORD5
RISN_GC1:c.2512C>T protEffect p.Arg838Cys
RISN_GC1:c.2512C>A commonName Arg 838 Ser
RISN_GC1:c.2512C>A phenoCommon CORD6/LCA
RISN_GC1:c.2512C>A protEffect p.Arg838Ser
RISN_GC1:c.2513G>A commonName Arg 838 His
RISN_GC1:c.2513G>A phenoCommon CORD6 = CORD5
RISN_GC1:c.2513G>A protEffect p.Arg838His
RISN_GC1:c.2516C>T commonName Thr 839 Met
RISN_GC1:c.2516C>T phenoCommon CORD
RISN_GC1:c.2516C>T protEffect p.Thr839Met
RISN_GC1:c.2566A>G commonName Met 856 Val
RISN_GC1:c.2566A>G protEffect p.Met856Val
RISN_GC1:c.2572C>T commonName Pro 858 Ser
RISN_GC1:c.2572C>T phenoCommon LCA
RISN_GC1:c.2572C>T protEffect p.Pro858Ser
RISN_GC1:c.2576+37G>T commonName IVS13+37g/t
RISN_GC1:c.2745C>T commonName Ile 915 Thr
RISN_GC1:c.2745C>T phenoCommon CORD
RISN_GC1:c.2745C>T protEffect p.Ile915Thr
RISN_GC1:c.2749G>C commonName Gly 917 Arg
RISN_GC1:c.2749G>C phenoCommon CORD
RISN_GC1:c.2749G>C protEffect p.Gly917Arg
RISN_GC1:c.2800G>C commonName Ala 934 Pro
RISN_GC1:c.2800G>C protEffect p.Ala934Pro
RISN_GC1:c.2837C>T commonName Ala 946 Val
RISN_GC1:c.2837C>T phenoCommon LCA
RISN_GC1:c.2837C>T protEffect p.Ala946Val
RISN_GC1:c.2849C>T commonName Ala 950 Val
RISN_GC1:c.2849C>T protEffect p.Ala950Val
RISN_GC1:c.2861T>C commonName Leu 954 Pro
RISN_GC1:c.2861T>C phenoCommon LCA
RISN_GC1:c.2861T>C protEffect p.Leu954Pro
RISN_GC1:c.2899delC commonName 2899delC
RISN_GC1:c.2899delC phenoCommon LCA
RISN_GC1:c.2927G>T commonName Arg 976 Leu
RISN_GC1:c.2927G>T phenoCommon CORD
RISN_GC1:c.2927G>T protEffect p.Arg976Leu
RISN_GC1:c.2943delG commonName 2943delG
RISN_GC1:c.2943delG phenoCommon LCA
RISN_GC1:c.2951G>A commonName Cys 984 Tyr
RISN_GC1:c.2951G>A protEffect p.Cys984Tyr
RISN_GC1:c.2983C>T commonName Arg 995 Trp
RISN_GC1:c.2983C>T phenoCommon LCA
RISN_GC1:c.2983C>T protEffect p.Arg995Trp
RISN_GC1:c.3025A>T commonName Met 1009 Leu
RISN_GC1:c.3025A>T phenoCommon CORD
RISN_GC1:c.3025A>T protEffect p.Met1009Leu
RISN_GC1:c.3043+4A>T commonName IVS16+4a>t
RISN_GC1:c.3043+4A>T phenoCommon CORD
RISN_GC1:c.3055C>A commonName His 1019 Pro
RISN_GC1:c.3055C>A phenoCommon CORD
RISN_GC1:c.3055C>A protEffect p.His1019Pro
RISN_GC1:c.3055_3064delins4 commonName 3055del10bpins4bp
RISN_GC1:c.3055_3064delins4 phenoCommon LCA
RISN_GC1:c.3078_3079delGA commonName 3078delGA
RISN_GC1:c.3078_3079delGA phenoCommon CORD
RISN_GC1:c.3106C>T commonName Gln 1036 ter
RISN_GC1:c.3106C>T phenoCommon CORD
RISN_GC1:c.3106C>T protEffect p.Gln1036X
RISN_GC1:c.3108G>T commonName Gln 1036 His
RISN_GC1:c.3108G>T phenoCommon LCA
RISN_GC1:c.3108G>T protEffect p.Gln1036His
RISN_GC1:c.3118C>G commonName Arg 1040 Gly
RISN_GC1:c.3118C>G phenoCommon LCA
RISN_GC1:c.3118C>G protEffect p.Arg1040Gly
RISN_GC1:c.3118C>T commonName Arg 1040 ter
RISN_GC1:c.3118C>T protEffect p.Arg1040X
RISN_GC1:c.3138+34G>T commonName IVS17+34g/t
RISN_GC1:c.3181G>A commonName Gly 1061 Ser
RISN_GC1:c.3181G>A protEffect p.Gly1061Ser
RISN_GC1:c.3205delC commonName 3205delC
RISN_GC1:c.3205delC phenoCommon EOSRP
RISN_GC1:c.3235_3236insACCA commonName 3236insACCA
RISN_GC1:c.3235_3236insACCA phenoCommon EOSRP
RISN_GC1:c.3282G>T commonName Leu 1094 Leu
RISN_GC1:c.3282G>T protEffect p.Leu1094Leu
RISN_GC1:c.1026+171delG commonName IVS3+171delg
RISN_GC1:c.1026+171delG phenoCommon ACHM
RISN_GC1:c.341T>C commonName Thr 114 Ile
RISN_GC1:c.341T>C phenoCommon Atypical RP
RISN_GC1:c.341T>C protEffect p.Thr114Ile
RISN_GC1:c.577C>T commonName Asp 189 Asp
RISN_GC1:c.577C>T phenoCommon MD, ACHM
RISN_GC1:c.577C>T protEffect p.Asp189Asp
RISN_ABCR:c.634C>T commonName Arg 212 Cys
RISN_ABCR:c.634C>T phenoCommon AMD
RISN_ABCR:c.634C>T protEffect p.Arg212Cys
RISN_ABCR:c.769-5T>G commonName IVS6-5t/g
RISN_ABCR:c.769-5T>G phenoCommon AMD
RISN_ABCR:c.1411G>A commonName Glu 471 Lys
RISN_ABCR:c.1411G>A phenoCommon AMD
RISN_ABCR:c.1411G>A protEffect p.Glu471Lys
RISN_ABCR:c.2453G>A commonName Gly 818 Glu
RISN_ABCR:c.2453G>A phenoCommon AMD
RISN_ABCR:c.2453G>A protEffect p.Gly818Glu
RISN_ABCR:c.2588G>C commonName 2588G>C =; Gly 863 Ala
RISN_ABCR:c.2588G>C phenoCommon AMD
RISN_ABCR:c.2588G>C protEffect p.Gly863Ala
RISN_ABCR:c.2884delC commonName 2884delC
RISN_ABCR:c.2884delC phenoCommon AMD
RISN_ABCR:c.3113C>T commonName Ala 1038 Val
RISN_ABCR:c.3113C>T phenoCommon AMD
RISN_ABCR:c.3113C>T protEffect p.Ala1038Val
RISN_ABCR:c.3386G>T commonName Arg 1129 Leu
RISN_ABCR:c.3386G>T phenoCommon AMD
RISN_ABCR:c.3386G>T protEffect p.Arg1129Leu
RISN_ABCR:c.4283C>T commonName Thr 1428 Met
RISN_ABCR:c.4283C>T phenoCommon AMD
RISN_ABCR:c.4283C>T protEffect p.Thr1428Met
RISN_ABCR:c.4297G>A commonName Val 1433 Ile
RISN_ABCR:c.4297G>A phenoCommon AMD
RISN_ABCR:c.4297G>A protEffect p.Val1433Ile
RISN_ABCR:c.4549C>A commonName Arg 1517 Ser
RISN_ABCR:c.4549C>A phenoCommon AMD
RISN_ABCR:c.4549C>A protEffect p.Arg1517Ser
RISN_ABCR:c.4685T>C commonName Ile 1562 Thr
RISN_ABCR:c.4685T>C phenoCommon AMD
RISN_ABCR:c.4685T>C protEffect p.Ile1562Thr
RISN_ABCR:c.4714A>T commonName Thr 1572 Met
RISN_ABCR:c.4714A>T phenoCommon AMD
RISN_ABCR:c.4714A>T protEffect p.Thr1572Met
RISN_ABCR:c.4732G>A commonName Gly 1578 Arg
RISN_ABCR:c.4732G>A phenoCommon AMD
RISN_ABCR:c.4732G>A protEffect p.Gly1578Arg
RISN_ABCR:c.4773+1G>T commonName IVS33+1g>t
RISN_ABCR:c.4773+1G>T phenoCommon AMD
RISN_ABCR:c.5196+1G>A commonName IVS36+1g>a
RISN_ABCR:c.5196+1G>A phenoCommon AMD
RISN_ABCR:c.5693G>A commonName Arg 1898 His
RISN_ABCR:c.5693G>A phenoCommon AMD
RISN_ABCR:c.5693G>A protEffect p.Arg1898His
RISN_ABCR:c.5882G>A commonName Gly 1961 Glu
RISN_ABCR:c.5882G>A phenoCommon AMD
RISN_ABCR:c.5882G>A protEffect p.Gly1961Glu
RISN_ABCR:c.5908C>T commonName Leu 1970 Phe
RISN_ABCR:c.5908C>T phenoCommon AMD
RISN_ABCR:c.5908C>T protEffect p.Leu1970Phe
RISN_ABCR:c.6148G>C commonName Val 2050 Leu
RISN_ABCR:c.6148G>C phenoCommon AMD
RISN_ABCR:c.6148G>C protEffect p.Val2050Leu
RISN_ABCR:c.6498C>G commonName Ile 2166 Met
RISN_ABCR:c.6498C>G phenoCommon AMD
RISN_ABCR:c.6498C>G protEffect p.Ile2166Met
RISN_ABCR:c.6519_6529del commonName 6519del11bp
RISN_ABCR:c.6519_6529del phenoCommon AMD
RISN_ABCR:c.6529G>A commonName Asp 2177 Asn
RISN_ABCR:c.6529G>A phenoCommon AMD
RISN_ABCR:c.6529G>A protEffect p.Asp2177Asn
RISN_ABCR:c.6568delC commonName 6568delC
RISN_ABCR:c.6568delC phenoCommon AMD
RISN_ABCR:c.2585C>T commonName Pro 862 Leu
RISN_ABCR:c.2585C>T phenoCommon AMD/Variant
RISN_ABCR:c.2585C>T protEffect p.Pro862Leu
RISN_ABCR:c.6088C>T commonName Arg 2030 ter
RISN_ABCR:c.6088C>T phenoCommon arCRD
RISN_ABCR:c.6088C>T protEffect p.Arg2030X
RISN_ABCR:c.6449G>A commonName Cys 2150 Tyr
RISN_ABCR:c.6449G>A phenoCommon arCRD
RISN_ABCR:c.6449G>A protEffect p.Cys2150Tyr
RISN_ABCR:c.1760+2T>G commonName IVS12+2t>g
RISN_ABCR:c.1760+2T>G phenoCommon ARRP
RISN_ABCR:c.1847delA commonName 1847delA
RISN_ABCR:c.1847delA phenoCommon ARRP
RISN_ABCR:c.2827C>G commonName Arg 943 Gln
RISN_ABCR:c.2827C>G phenoCommon ARRP
RISN_ABCR:c.2827C>G protEffect p.Arg943Gln
RISN_ABCR:c.3523-28T>C commonName IVS23-28t>c
RISN_ABCR:c.3523-28T>C phenoCommon ARRP
RISN_ABCR:c.4539+1G>T commonName IVS30+1g>t
RISN_ABCR:c.4539+1G>T phenoCommon ARRP
RISN_ABCR:c.4773+48C>T commonName IVS33+48c>t
RISN_ABCR:c.4773+48C>T phenoCommon ARRP
RISN_ABCR:c.5585-70T>C commonName IVS39-70c>t
RISN_ABCR:c.5585-70T>C phenoCommon ARRP
RISN_ABCR:c.5888delG commonName 5888delG
RISN_ABCR:c.5888delG phenoCommon ARRP
RISN_ABCR:c.5917delG commonName 5917delG
RISN_ABCR:c.5917delG phenoCommon ARRP
RISN_ABCR:c.52C>T commonName Arg 18 Trp
RISN_ABCR:c.52C>T phenoCommon CRD
RISN_ABCR:c.52C>T protEffect p.Arg18Trp
RISN_ABCR:c.70C>T commonName Arg 24 Cys
RISN_ABCR:c.70C>T phenoCommon CRD
RISN_ABCR:c.70C>T protEffect p.Arg24Cys
RISN_ABCR:c.194G>A commonName Gly 65 Glu
RISN_ABCR:c.194G>A phenoCommon CRD
RISN_ABCR:c.194G>A protEffect p.Gly65Glu
RISN_ABCR:c.249_250insCAAA commonName 250insCAAA
RISN_ABCR:c.249_250insCAAA phenoCommon CRD
RISN_ABCR:c.481G>A commonName Glu 161 Lys
RISN_ABCR:c.481G>A phenoCommon CRD
RISN_ABCR:c.481G>A protEffect p.Glu161Lys
RISN_ABCR:c.768G>T commonName Val 256 Val
RISN_ABCR:c.768G>T phenoCommon CRD
RISN_ABCR:c.768G>T protEffect p.Val256Val
RISN_ABCR:c.1066A>T commonName Lys 356 ter
RISN_ABCR:c.1066A>T phenoCommon CRD
RISN_ABCR:c.1066A>T protEffect p.Lys356X
RISN_ABCR:c.1622T>C commonName Leu 541 Pro
RISN_ABCR:c.1622T>C phenoCommon CRD
RISN_ABCR:c.1622T>C protEffect p.Leu541Pro
RISN_ABCR:c.1789C>T commonName Pro 597 Ser
RISN_ABCR:c.1789C>T phenoCommon CRD
RISN_ABCR:c.1789C>T protEffect p.Pro597Ser
RISN_ABCR:c.1853G>A commonName Gly 618 Glu
RISN_ABCR:c.1853G>A phenoCommon CRD
RISN_ABCR:c.1853G>A protEffect p.Gly618Glu
RISN_ABCR:c.2300T>A commonName Val 767 Asp
RISN_ABCR:c.2300T>A phenoCommon CRD
RISN_ABCR:c.2300T>A protEffect p.Val767Asp
RISN_ABCR:c.2588-12C>G commonName IVS16-12c>g
RISN_ABCR:c.2588-12C>G phenoCommon CRD
RISN_ABCR:c.3085C>T commonName Glu 1029 ter
RISN_ABCR:c.3085C>T phenoCommon CRD
RISN_ABCR:c.3085C>T protEffect p.Glu1029X
RISN_ABCR:c.3259G>A commonName Glu 1087 Lys
RISN_ABCR:c.3259G>A phenoCommon CRD
RISN_ABCR:c.3259G>A protEffect p.Glu1087Lys
RISN_ABCR:c.3364G>A commonName Glu 1122 Lys
RISN_ABCR:c.3364G>A phenoCommon CRD
RISN_ABCR:c.3364G>A protEffect p.Glu1122Lys
RISN_ABCR:c.3862+1G>A commonName IVS26+1g>a
RISN_ABCR:c.3862+1G>A phenoCommon CRD
RISN_ABCR:c.4035_4036dupCA commonName 4035insCA
RISN_ABCR:c.4035_4036dupCA phenoCommon CRD
RISN_ABCR:c.4469G>A commonName Cys 1490 Tyr
RISN_ABCR:c.4469G>A phenoCommon CRD
RISN_ABCR:c.4469G>A protEffect p.Cys1490Tyr
RISN_ABCR:c.4537_4538insC commonName 4538insC
RISN_ABCR:c.4537_4538insC phenoCommon CRD
RISN_ABCR:c.4919G>A commonName Arg 1640 Gln
RISN_ABCR:c.4919G>A phenoCommon CRD
RISN_ABCR:c.4919G>A protEffect p.Arg1640Gln
RISN_ABCR:c.4918C>T commonName Arg 1640 Trp
RISN_ABCR:c.4918C>T phenoCommon CRD
RISN_ABCR:c.4918C>T protEffect p.Arg1640Trp
RISN_ABCR:c.5196+2T>C commonName IVS36+2t>c
RISN_ABCR:c.5196+2T>C phenoCommon CRD
RISN_ABCR:c.5381C>A commonName Ala 1794 Asp
RISN_ABCR:c.5381C>A phenoCommon CRD
RISN_ABCR:c.5381C>A protEffect p.Ala1794Asp
RISN_ABCR:c.5461-10T>C commonName IVS38-10t/c
RISN_ABCR:c.5461-10T>C phenoCommon CRD
RISN_ABCR:c.5714+5G>A commonName IVS40+5g>a
RISN_ABCR:c.5714+5G>A phenoCommon CRD
RISN_ABCR:c.6079C>T commonName Leu 2027 Phe
RISN_ABCR:c.6079C>T phenoCommon CRD
RISN_ABCR:c.6079C>T protEffect p.Leu2027Phe
RISN_ABCR:c.6601_6602delAG commonName 6601delAG
RISN_ABCR:c.6601_6602delAG phenoCommon CRD
RISN_ABCR:c.32T>C commonName Leu 11 Pro
RISN_ABCR:c.32T>C protEffect p.Leu11Pro
RISN_ABCR:c.122G>A commonName Trp 41 ter
RISN_ABCR:c.122G>A protEffect p.Trp41X
RISN_ABCR:c.161G>T commonName Cys 54 Phe
RISN_ABCR:c.161G>T protEffect p.Cys54Phe
RISN_ABCR:c.178G>A commonName Ala 60 Thr
RISN_ABCR:c.178G>A protEffect p.Ala60Thr
RISN_ABCR:c.203C>T commonName Pro 68 Leu
RISN_ABCR:c.203C>T protEffect p.Pro68Leu
RISN_ABCR:c.214G>A commonName Gly 72 Arg
RISN_ABCR:c.214G>A protEffect p.Gly72Arg
RISN_ABCR:c.296dupA commonName 296insA
RISN_ABCR:c.302+1G>A commonName IVS3+1g>a
RISN_ABCR:c.666_678del commonName 666del13bp
RISN_ABCR:c.667_678del commonName 667del12bp
RISN_ABCR:c.667_680del commonName 667del14bp
RISN_ABCR:c.671delC commonName 671delC
RISN_ABCR:c.730_731delCT commonName 730delCT
RISN_ABCR:c.740A>T commonName Asn 247 Ile
RISN_ABCR:c.740A>T protEffect p.Asn247Ile
RISN_ABCR:c.740A>G commonName Asn 247 Ser
RISN_ABCR:c.740A>G protEffect p.Asn247Ser
RISN_ABCR:c.763C>G commonName Arg 255 Cys
RISN_ABCR:c.763C>G protEffect p.Arg255Cys
RISN_ABCR:c.982G>T commonName Glu 328 ter
RISN_ABCR:c.982G>T protEffect p.Glu328X
RISN_ABCR:c.983A>T commonName Glu 328 Val
RISN_ABCR:c.983A>T protEffect p.Glu328Val
RISN_ABCR:c.1015T>G commonName Trp 339 Gly
RISN_ABCR:c.1015T>G protEffect p.Trp339Gly
RISN_ABCR:c.1025_1038del commonName 1025del14bp
RISN_ABCR:c.1036A>T commonName Lys 346 ter
RISN_ABCR:c.1036A>T protEffect p.Lys346X
RISN_ABCR:c.1037A>C commonName Lys 346 Thr
RISN_ABCR:c.1037A>C protEffect p.Lys346Thr
RISN_ABCR:c.1086T>G commonName Tyr 362 ter
RISN_ABCR:c.1086T>G protEffect p.Tyr362X
RISN_ABCR:c.1268A>C commonName His 423 Pro
RISN_ABCR:c.1268A>C protEffect p.His423Pro
RISN_ABCR:c.1317G>A commonName Trp 439 ter
RISN_ABCR:c.1317G>A protEffect p.Trp439X
RISN_ABCR:c.1325T>C commonName Phe 442 Ser
RISN_ABCR:c.1325T>C protEffect p.Phe442Ser
RISN_ABCR:c.1506_1514del commonName 1506del9bp
RISN_ABCR:c.1554+1G>A commonName IVS11+1g>a
RISN_ABCR:c.1555-1G>A commonName IVS11-1g>a
RISN_ABCR:c.1610G>A commonName Arg 537 His
RISN_ABCR:c.1610G>A protEffect p.Arg537His
RISN_ABCR:c.1659C>G commonName Phe 553 Leu
RISN_ABCR:c.1659C>G protEffect p.Phe553Leu
RISN_ABCR:c.1798G>T commonName Asp 600 Tyr
RISN_ABCR:c.1798G>T protEffect p.Asp600Tyr
RISN_ABCR:c.1822T>C commonName Phe 608 Leu
RISN_ABCR:c.1822T>C protEffect p.Phe608Leu
RISN_ABCR:c.1823T>A commonName Phe 608 Tyr
RISN_ABCR:c.1823T>A protEffect p.Phe608Tyr
RISN_ABCR:c.1903C>A commonName Gln 635 Lys
RISN_ABCR:c.1903C>A protEffect p.Gln635Lys
RISN_ABCR:c.1908G>T commonName Gln 636 His
RISN_ABCR:c.1908G>T protEffect p.Gln636His
RISN_ABCR:c.1917C>T commonName Tyr 639 Tyr
RISN_ABCR:c.1917C>T protEffect p.Tyr639Tyr
RISN_ABCR:c.1937+1G>A commonName IVS13+1g>a
RISN_ABCR:c.2057T>C commonName Leu 686 Ser
RISN_ABCR:c.2057T>C protEffect p.Leu686Ser
RISN_ABCR:c.2292delT commonName 2292delT
RISN_ABCR:c.2295T>G commonName Ser 765 Arg
RISN_ABCR:c.2295T>G protEffect p.Ser765Arg
RISN_ABCR:c.2409_2410delAT commonName 2409delAT
RISN_ABCR:c.2564G>A commonName Trp 855 ter
RISN_ABCR:c.2564G>A protEffect p.Trp855X
RISN_ABCR:c.2570delT commonName 2570delT
RISN_ABCR:c.2616_2617delCT commonName 2616delCT
RISN_ABCR:c.2703A>T commonName Thr 901 Thr
RISN_ABCR:c.2703A>T protEffect p.Thr901Thr
RISN_ABCR:c.2826delC commonName 2826delC
RISN_ABCR:c.2876C>T commonName Thr 959 Ile
RISN_ABCR:c.2876C>T protEffect p.Thr959Ile
RISN_ABCR:c.2886delG commonName 2886delG
RISN_ABCR:c.2948C>T commonName Thr 983 Ile
RISN_ABCR:c.2948C>T protEffect p.Thr983Ile
RISN_ABCR:c.2971G>C commonName Gly 991 Arg
RISN_ABCR:c.2971G>C protEffect p.Gly991Arg
RISN_ABCR:c.3163C>T commonName Arg 1055 Trp
RISN_ABCR:c.3163C>T protEffect p.Arg1055Trp
RISN_ABCR:c.3187T>C commonName Ser 1063 Pro
RISN_ABCR:c.3187T>C protEffect p.Ser1063Pro
RISN_ABCR:c.3190+1G>T commonName IVS21+1g>t
RISN_ABCR:c.3191-2A>G commonName IVS21-2a>g
RISN_ABCR:c.3261A>C commonName Glu 1087 Asp
RISN_ABCR:c.3261A>C protEffect p.Glu1087Asp
RISN_ABCR:c.3272G>A commonName Gly 1091 Glu
RISN_ABCR:c.3272G>A protEffect p.Gly1091Glu
RISN_ABCR:c.3278A>G commonName Asp 1093 Gly
RISN_ABCR:c.3278A>G protEffect p.Asp1093Gly
RISN_ABCR:c.3303G>A commonName Trp 1101 ter
RISN_ABCR:c.3303G>A protEffect p.Trp1101X
RISN_ABCR:c.3323G>T commonName Arg 1108 Leu
RISN_ABCR:c.3323G>T protEffect p.Arg1108Leu
RISN_ABCR:c.3438delC commonName 3438delC
RISN_ABCR:c.3527_3528insTGCA commonName 3528insTGCA
RISN_ABCR:c.3607+1G>A commonName IVS24+1g>a
RISN_ABCR:c.3703A>G commonName Asn 1235 Asp
RISN_ABCR:c.3703A>G protEffect p.Asn1235Asp
RISN_ABCR:c.3754G>T commonName Glu 1252 ter
RISN_ABCR:c.3754G>T protEffect p.Glu1252X
RISN_ABCR:c.3758C>T commonName Thr 1253 Met
RISN_ABCR:c.3758C>T protEffect p.Thr1253Met
RISN_ABCR:c.3808G>T commonName Glu 1270 ter
RISN_ABCR:c.3808G>T protEffect p.Glu1270X
RISN_ABCR:c.3815dupT commonName 3815insT
RISN_ABCR:c.3874C>T commonName Gln 1292 ter
RISN_ABCR:c.3874C>T protEffect p.Gln1292X
RISN_ABCR:c.3898C>T commonName Arg 1300 ter
RISN_ABCR:c.3898C>T protEffect p.Arg1300X
RISN_ABCR:c.3994C>T commonName Gln 1332 ter
RISN_ABCR:c.3994C>T protEffect p.Gln1332X
RISN_ABCR:c.4073T>C commonName Leu 1358 Pro
RISN_ABCR:c.4073T>C protEffect p.Leu1358Pro
RISN_ABCR:c.4169T>C commonName Leu 1390 Pro
RISN_ABCR:c.4169T>C protEffect p.Leu1390Pro
RISN_ABCR:c.4254-2A>G commonName IVS28-2a>g
RISN_ABCR:c.4286T>C commonName Leu 1430 Pro
RISN_ABCR:c.4286T>C protEffect p.Leu1430Pro
RISN_ABCR:c.4318T>G commonName Phe 1440 Val
RISN_ABCR:c.4318T>G protEffect p.Phe1440Val
RISN_ABCR:c.4436G>A commonName Trp 1479 ter
RISN_ABCR:c.4436G>A protEffect p.Trp1479X
RISN_ABCR:c.4463G>A commonName Cys 1488 Tyr
RISN_ABCR:c.4463G>A protEffect p.Cys1488Tyr
RISN_ABCR:c.4540-2A>G commonName IVS30-2a>g
RISN_ABCR:c.4667+2T>C commonName IVS32+2t>c
RISN_ABCR:c.4707delC commonName 4707delC
RISN_ABCR:c.4773+2T>C commonName IVS33+2t>c
RISN_ABCR:c.4838delA commonName 4838delA
RISN_ABCR:c.4854G>A commonName Trp 1618 ter
RISN_ABCR:c.4854G>A protEffect p.Trp1618X
RISN_ABCR:c.4875T>A commonName His 1625 Gln
RISN_ABCR:c.4875T>A protEffect p.His1625Gln
RISN_ABCR:c.4926C>G commonName Ser 1642 Arg
RISN_ABCR:c.4926C>G protEffect p.Ser1642Arg
RISN_ABCR:c.4999C>A commonName Gln 1667 Lys
RISN_ABCR:c.4999C>A protEffect p.Gln1667Lys
RISN_ABCR:c.5018+2T>A commonName IVS35+2t>a
RISN_ABCR:c.5056G>A commonName Val 1686 Met
RISN_ABCR:c.5056G>A protEffect p.Val1686Met
RISN_ABCR:c.5065T>C commonName Ser 1689 Pro
RISN_ABCR:c.5065T>C protEffect p.Ser1689Pro
RISN_ABCR:c.5114G>T commonName Arg 1705 Leu
RISN_ABCR:c.5114G>T protEffect p.Arg1705Leu
RISN_ABCR:c.5160_5161delCA commonName 5160delCA
RISN_ABCR:c.5196+1_5196+4del commonName IVS36+1del4bp
RISN_ABCR:c.5196+1_5196+6del commonName IVS36+1del6bp
RISN_ABCR:c.5196+2T>G commonName IVS36+2t>g
RISN_ABCR:c.5242G>A commonName Gly 1748 Arg
RISN_ABCR:c.5242G>A protEffect p.Gly1748Arg
RISN_ABCR:c.5248C>T commonName Gln 1750 ter
RISN_ABCR:c.5248C>T protEffect p.Gln1750X
RISN_ABCR:c.5278_5286del commonName 5278del9bp
RISN_ABCR:c.5288T>C commonName Leu 1763 Pro
RISN_ABCR:c.5288T>C protEffect p.Leu1763Pro
RISN_ABCR:c.5337C>A commonName Tyr 1779 ter
RISN_ABCR:c.5337C>A protEffect p.Tyr1779X
RISN_ABCR:c.5413A>G commonName Asn 1805 Asp
RISN_ABCR:c.5413A>G protEffect p.Asn1805Asp
RISN_ABCR:c.5460+1G>A commonName IVS38+1g>a
RISN_ABCR:c.5512C>G commonName His 1838 Asp
RISN_ABCR:c.5512C>G protEffect p.His1838Asp
RISN_ABCR:c.5585-10T>C commonName IVS39-10t>c
RISN_ABCR:c.5653G>A commonName Glu 1885 Lys
RISN_ABCR:c.5653G>A protEffect p.Glu1885Lys
RISN_ABCR:c.5761G>A commonName Val 1921 Met
RISN_ABCR:c.5761G>A protEffect p.Val1921Met
RISN_ABCR:c.5819T>C commonName Leu 1940 Pro
RISN_ABCR:c.5819T>C protEffect p.Leu1940Pro
RISN_ABCR:c.5912T>G commonName Leu 1971 Arg
RISN_ABCR:c.5912T>G protEffect p.Leu1971Arg
RISN_ABCR:c.5914G>A commonName Gly 1972 Arg
RISN_ABCR:c.5914G>A protEffect p.Gly1972Arg
RISN_ABCR:c.5923G>C commonName Gly 1975 Arg
RISN_ABCR:c.5923G>C protEffect p.Gly1975Arg
RISN_ABCR:c.5936C>T commonName Thr 1979 Ile
RISN_ABCR:c.5936C>T protEffect p.Thr1979Ile
RISN_ABCR:c.6118C>T commonName Arg 2040 ter
RISN_ABCR:c.6118C>T protEffect p.Arg2040X
RISN_ABCR:c.6179T>G commonName Leu 2060 Arg
RISN_ABCR:c.6179T>G protEffect p.Leu2060Arg
RISN_ABCR:c.6190G>C commonName Ala 2064 Pro
RISN_ABCR:c.6190G>C protEffect p.Ala2064Pro
RISN_ABCR:c.6229C>G commonName Arg 2077 Gly
RISN_ABCR:c.6229C>G protEffect p.Arg2077Gly
RISN_ABCR:c.6238_6239delTC commonName 6238delTC
RISN_ABCR:c.6276G>A commonName Val 2029 Val
RISN_ABCR:c.6276G>A protEffect p.Val2029Val
RISN_ABCR:c.6320G>C commonName Arg 2107 Pro
RISN_ABCR:c.6320G>C protEffect p.Arg2107Pro
RISN_ABCR:c.6329G>A commonName Trp 2110 ter
RISN_ABCR:c.6329G>A protEffect p.Trp2110X
RISN_ABCR:c.6386+2C>G commonName IVS46+2c>g
RISN_ABCR:c.6437G>A commonName Gly 2146 Asp
RISN_ABCR:c.6437G>A protEffect p.Gly2146Asp
RISN_ABCR:c.6609C>A commonName Tyr 2203 ter
RISN_ABCR:c.6609C>A protEffect p.Tyr2203X
RISN_ABCR:c.6658C>T commonName Gln 2220 ter
RISN_ABCR:c.6658C>T protEffect p.Gln2220X
RISN_ABCR:c.6709_6710insA commonName 6710insA
RISN_ABCR:c.6813C>T commonName Ala 2271 Ala
RISN_ABCR:c.6813C>T protEffect p.Ala2271Ala
RISN_ABCR:c.141G>A commonName Pro 47 Pro
RISN_ABCR:c.141G>A protEffect p.Pro47Pro
RISN_ABCR:c.161-45G>T commonName IVS2-45t/g
RISN_ABCR:c.234C>T commonName Asn 78 Asn
RISN_ABCR:c.234C>T protEffect p.Asn78Asn
RISN_ABCR:c.302+20C>T commonName IVS3+20c/t
RISN_ABCR:c.302+26A>G commonName IVS3+26a/g
RISN_ABCR:c.303-71delA commonName IVS3-71del a
RISN_ABCR:c.571-29G>T commonName IVS5-29g/t
RISN_ABCR:c.635G>A commonName Arg 212 His
RISN_ABCR:c.635G>A protEffect p.Arg212His
RISN_ABCR:c.769-32T>C commonName IVS6-32t/c
RISN_ABCR:c.859-11C>T commonName IVS7-11c/t
RISN_ABCR:c.873G>A commonName Pro 291 Pro
RISN_ABCR:c.873G>A protEffect p.Pro291Pro
RISN_ABCR:c.928G>C commonName Glu 310 Gln
RISN_ABCR:c.928G>C protEffect p.Glu310Gln
RISN_ABCR:c.933C>T commonName Thr 311 Thr
RISN_ABCR:c.933C>T protEffect p.Thr311Thr
RISN_ABCR:c.981C>T commonName Pro 327 Pro
RISN_ABCR:c.981C>T protEffect p.Pro327Pro
RISN_ABCR:c.989G>A commonName Gly 330 Asp
RISN_ABCR:c.989G>A protEffect p.Gly330Asp
RISN_ABCR:c.1100-14T>C commonName IVS8-14t/c
RISN_ABCR:c.1240-14C>T commonName IVS9-14c/t
RISN_ABCR:c.1248A>C commonName Ser 416 Ser
RISN_ABCR:c.1248A>C protEffect p.Ser416Ser
RISN_ABCR:c.1268A>G commonName His 423 Arg
RISN_ABCR:c.1268A>G protEffect p.His423Arg
RISN_ABCR:c.1269C>T commonName His 423 His
RISN_ABCR:c.1269C>T protEffect p.His423His
RISN_ABCR:c.1356+11delG commonName IVS10+11del g
RISN_ABCR:c.1356+5_1356+6insC commonName IVS10+6ins c
RISN_ABCR:c.1356+6G>C commonName IVS10+6g/c
RISN_ABCR:c.1356+5delG commonName IVS10+5del g
RISN_ABCR:c.1623A>G commonName Leu 541 Leu
RISN_ABCR:c.1623A>G protEffect p.Leu541Leu
RISN_ABCR:c.1653G>A commonName Val 551 Val
RISN_ABCR:c.1653G>A protEffect p.Val551Val
RISN_ABCR:c.1760+22G>T commonName IVS12+22g/t
RISN_ABCR:c.1761-37G>A commonName IVS12-37g/a
RISN_ABCR:c.1761-50G>A commonName IVS12-50g/a
RISN_ABCR:c.1761-54G>A commonName IVS12-54g/a
RISN_ABCR:c.1878G>A commonName Ala 626 Ala
RISN_ABCR:c.1878G>A protEffect p.Ala626Ala
RISN_ABCR:c.1928T>G commonName Val 643 Gly
RISN_ABCR:c.1928T>G protEffect p.Val643Gly
RISN_ABCR:c.2127G>A commonName Ser 709 Ser
RISN_ABCR:c.2127G>A protEffect p.Ser709Ser
RISN_ABCR:c.2383-10C>G commonName IVS15-10c/g
RISN_ABCR:c.2536G>C commonName Asp 846 His
RISN_ABCR:c.2536G>C protEffect p.Asp846His
RISN_ABCR:c.2653+60G>C commonName IVS17+60g/c
RISN_ABCR:c.2654-21A>T commonName IVS17-21a/t
RISN_ABCR:c.2654-48G>C commonName IVS17-48g/c
RISN_ABCR:c.2701A>G commonName Thr 901 Ala
RISN_ABCR:c.2701A>G protEffect p.Thr901Ala
RISN_ABCR:c.2744-38delC commonName IVS18-38del c
RISN_ABCR:c.2744-56G>A commonName IVS18-56g/a
RISN_ABCR:c.2877C>T commonName Thr 959 Thr
RISN_ABCR:c.2877C>T protEffect p.Thr959Thr
RISN_ABCR:c.2964C>T commonName Leu 988 Leu
RISN_ABCR:c.2964C>T protEffect p.Leu988Leu
RISN_ABCR:c.2992C>T commonName Leu 998 Leu
RISN_ABCR:c.2992C>T protEffect p.Leu998Leu
RISN_ABCR:c.3051-14T>A commonName IVS20-14t/a
RISN_ABCR:c.3190+83A>T commonName IVS21+83a/t
RISN_ABCR:c.3191-20C>T commonName IVS21-20c/t
RISN_ABCR:c.3329-34A>G commonName IVS22-34a/g
RISN_ABCR:c.3523-12C>T commonName IVS23-12c/t
RISN_ABCR:c.3607+32G>A commonName IVS24+32g/a
RISN_ABCR:c.3608-16T>A commonName IVS24-16t/a
RISN_ABCR:c.3696T>G commonName Leu 1232 Leu
RISN_ABCR:c.3696T>G protEffect p.Leu1232Leu
RISN_ABCR:c.3940C>A commonName Pro 1314 Thr
RISN_ABCR:c.3940C>A protEffect p.Pro1314Thr
RISN_ABCR:c.4129-35A>T commonName IVS27-35a/t
RISN_ABCR:c.4129-71A>T commonName IVS27-71a/t
RISN_ABCR:c.4184T>C commonName Leu 1395 Pro
RISN_ABCR:c.4184T>C protEffect p.Leu1395Pro
RISN_ABCR:c.4203C>A commonName Pro 1401 Pro
RISN_ABCR:c.4203C>A protEffect p.Pro1401Pro
RISN_ABCR:c.4253+4C>T commonName IVS28+4c/t
RISN_ABCR:c.4253+43G>A commonName IVS28+43g/a
RISN_ABCR:c.4254-38G>A commonName IVS28-38g/a
RISN_ABCR:c.4254-47T>C commonName IVS28-47t/c
RISN_ABCR:c.4352+32G>A commonName IVS29+32a/g
RISN_ABCR:c.4352+13G>A commonName IVS29+13g/a
RISN_ABCR:c.4506C>T commonName Cys 1502 Cys
RISN_ABCR:c.4506C>T protEffect p.Cys1502Cys
RISN_ABCR:c.4539+35G>C commonName IVS30+35g/c
RISN_ABCR:c.4539+40C>T commonName IVS30+40c/t
RISN_ABCR:c.4539+3A>G commonName IVS30+3g/a
RISN_ABCR:c.4539+21delG commonName IVS30+21del g
RISN_ABCR:c.4668-38C>T commonName IVS32-38c/t
RISN_ABCR:c.4668-15C>T commonName IVS32-15c/t
RISN_ABCR:c.4746C>T commonName Asp 1582 Asp
RISN_ABCR:c.4746C>T protEffect p.Asp1582Asp
RISN_ABCR:c.4909G>A commonName Ala 1637 Thr
RISN_ABCR:c.4909G>A protEffect p.Ala1637Thr
RISN_ABCR:c.5019-32G>A commonName IVS35-32g/a
RISN_ABCR:c.5196+20G>A commonName IVS36+20g/a
RISN_ABCR:c.5312+45G>T commonName IVS37+45g/t
RISN_ABCR:c.5461-50_5461-51insG commonName IVS38-51ins g
RISN_ABCR:c.5461-38delT commonName IVS38-38del t
RISN_ABCR:c.5461-52delG commonName IVS38-52del g
RISN_ABCR:c.5461-49_5461-50insA commonName IVS38-50ins a
RISN_ABCR:c.5584+6_5584+17delins11 commonName IVS39+6del12bpins11bp
RISN_ABCR:c.5585-17T>A commonName IVS39-17t/a
RISN_ABCR:c.5603A>T commonName Asn 1868 Ile
RISN_ABCR:c.5603A>T protEffect p.Asn1868Ile
RISN_ABCR:c.5682G>C commonName Leu 1894 Leu
RISN_ABCR:c.5682G>C protEffect p.Leu1894Leu
RISN_ABCR:c.5715-25A>C commonName IVS40-25a/c
RISN_ABCR:c.5814A>G commonName Leu 1938 Leu
RISN_ABCR:c.5814A>G protEffect p.Leu1938Leu
RISN_ABCR:c.5836-40C>A commonName IVS41-40c/a
RISN_ABCR:c.5836-15_5836-16insT commonName IVS41-16ins t
RISN_ABCR:c.5836-11G>A commonName IVS41-11g/a
RISN_ABCR:c.5836-36_5836-37insTC commonName IVS41-37ins tc
RISN_ABCR:c.5836-24A>G commonName IVS41-24g/a
RISN_ABCR:c.5843C>T commonName Pro 1948 Leu
RISN_ABCR:c.5843C>T protEffect p.Pro1948Leu
RISN_ABCR:c.5844G>A commonName Pro 1948 Pro
RISN_ABCR:c.5844G>A protEffect p.Pro1948Pro
RISN_ABCR:c.5868C>T commonName Asp 1956 Asp
RISN_ABCR:c.5868C>T protEffect p.Asp1956Asp
RISN_ABCR:c.5886T>C commonName Val 1962 Val
RISN_ABCR:c.5886T>C protEffect p.Val1962Val
RISN_ABCR:c.5951_5952delinsCA commonName Met 1984 Leu
RISN_ABCR:c.5951_5952delinsCA protEffect p.Met1984Leu
RISN_ABCR:c.6005+1G>T commonName IVS43+1g/t
RISN_ABCR:c.6006-16G>A commonName IVS43-16g/a
RISN_ABCR:c.6069C>T commonName Ile 2023 Ile
RISN_ABCR:c.6069C>T protEffect p.Ile2023Ile
RISN_ABCR:c.6076C>T commonName Leu 2026 Leu
RISN_ABCR:c.6076C>T protEffect p.Leu2026Leu
RISN_ABCR:c.6249C>T commonName Ile 2083 Ile
RISN_ABCR:c.6249C>T protEffect p.Ile2083Ile
RISN_ABCR:c.6255C>T commonName Leu 2085 Leu
RISN_ABCR:c.6255C>T protEffect p.Leu2085Leu
RISN_ABCR:c.6282+7G>A commonName IVS45+7g/a
RISN_ABCR:c.6285T>C commonName Asp 2095 Asp
RISN_ABCR:c.6285T>C protEffect p.Asp2095Asp
RISN_ABCR:c.6342G>A commonName Val 2114 Val
RISN_ABCR:c.6342G>A protEffect p.Val2114Val
RISN_ABCR:c.6693C>T commonName Ile 2231 Ile
RISN_ABCR:c.6693C>T protEffect p.Ile2231Ile
RISN_ABCR:c.6721C>G commonName Leu 2241 Val
RISN_ABCR:c.6721C>G protEffect p.Leu2241Val
RISN_ABCR:c.6729+21C>T commonName IVS48+21c/t
RISN_ABCR:c.6730-3T>C commonName IVS48-3t/c
RISN_ABCR:c.6730-27C>G commonName IVS48-27c/g
RISN_ABCR:c.6732G>A commonName Val 2244 Val
RISN_ABCR:c.6732G>A protEffect p.Val2244Val
RISN_ABCR:c.1A>G commonName Met 1 Val
RISN_ABCR:c.1A>G phenoCommon STGD
RISN_ABCR:c.1A>G protEffect p.Met1Val
RISN_ABCR:c.38_46del commonName 38del9bp
RISN_ABCR:c.38_46del phenoCommon STGD
RISN_ABCR:c.45G>A commonName Trp 15 ter
RISN_ABCR:c.45G>A phenoCommon STGD
RISN_ABCR:c.45G>A protEffect p.Trp15X
RISN_ABCR:c.71G>A commonName Arg 24 His
RISN_ABCR:c.71G>A phenoCommon STGD
RISN_ABCR:c.71G>A protEffect p.Arg24His
RISN_ABCR:c.106delT commonName 106delT
RISN_ABCR:c.106delT phenoCommon STGD
RISN_ABCR:c.160+1G>A commonName IVS2+1g>a
RISN_ABCR:c.160+1G>A phenoCommon STGD
RISN_ABCR:c.161G>A commonName Cys 54 Tyr
RISN_ABCR:c.161G>A phenoCommon STGD
RISN_ABCR:c.161G>A protEffect p.Cys54Tyr
RISN_ABCR:c.174C>G commonName Asn 58 Lys
RISN_ABCR:c.174C>G phenoCommon STGD
RISN_ABCR:c.174C>G protEffect p.Asn58Lys
RISN_ABCR:c.179C>T commonName Ala 60 Val
RISN_ABCR:c.179C>T phenoCommon STGD
RISN_ABCR:c.179C>T protEffect p.Ala60Val
RISN_ABCR:c.203C>G commonName Pro 68 Arg
RISN_ABCR:c.203C>G phenoCommon STGD
RISN_ABCR:c.203C>G protEffect p.Pro68Arg
RISN_ABCR:c.223T>G commonName Cys 75 Gly
RISN_ABCR:c.223T>G phenoCommon STGD
RISN_ABCR:c.223T>G protEffect p.Cys75Gly
RISN_ABCR:c.230T>A commonName Val 77 Glu
RISN_ABCR:c.230T>A phenoCommon STGD
RISN_ABCR:c.230T>A protEffect p.Val77Glu
RISN_ABCR:c.247_250delCAAA commonName 247delCAAA
RISN_ABCR:c.247_250delCAAA phenoCommon STGD
RISN_ABCR:c.286A>G commonName Asn 96 Asp
RISN_ABCR:c.286A>G phenoCommon STGD
RISN_ABCR:c.286A>G protEffect p.Asn96Asp
RISN_ABCR:c.286A>C commonName Asn 96 His
RISN_ABCR:c.286A>C phenoCommon STGD
RISN_ABCR:c.286A>C protEffect p.Asn96His
RISN_ABCR:c.298T>C commonName Ser 100 Pro
RISN_ABCR:c.298T>C phenoCommon STGD
RISN_ABCR:c.298T>C protEffect p.Ser100Pro
RISN_ABCR:c.324dupT commonName 324insT
RISN_ABCR:c.324dupT phenoCommon STGD
RISN_ABCR:c.428C>T commonName Pro 143 Leu
RISN_ABCR:c.428C>T phenoCommon STGD
RISN_ABCR:c.428C>T protEffect p.Pro143Leu
RISN_ABCR:c.454C>T commonName Arg 152 ter
RISN_ABCR:c.454C>T phenoCommon STGD
RISN_ABCR:c.454C>T protEffect p.Arg152X
RISN_ABCR:c.455G>A commonName Arg 152 Gln
RISN_ABCR:c.455G>A phenoCommon STGD
RISN_ABCR:c.455G>A protEffect p.Arg152Gln
RISN_ABCR:c.466A>G commonName Ile 156 Val
RISN_ABCR:c.466A>G phenoCommon STGD
RISN_ABCR:c.466A>G protEffect p.Ile156Val
RISN_ABCR:c.514G>A commonName Gly 172 Ser
RISN_ABCR:c.514G>A phenoCommon STGD
RISN_ABCR:c.514G>A protEffect p.Gly172Ser
RISN_ABCR:c.570G>C commonName Gln 190 His
RISN_ABCR:c.570G>C phenoCommon STGD
RISN_ABCR:c.570G>C protEffect p.Gln190His
RISN_ABCR:c.571-2A>G commonName IVS5-2a>g
RISN_ABCR:c.571-2A>G phenoCommon STGD
RISN_ABCR:c.571-1G>T commonName IVS5-1g>t
RISN_ABCR:c.571-1G>T phenoCommon STGD
RISN_ABCR:c.574G>A commonName Ala 192 Thr
RISN_ABCR:c.574G>A phenoCommon STGD
RISN_ABCR:c.574G>A protEffect p.Ala192Thr
RISN_ABCR:c.618C>G commonName Ser 206 Arg
RISN_ABCR:c.618C>G phenoCommon STGD
RISN_ABCR:c.618C>G protEffect p.Ser206Arg
RISN_ABCR:c.656G>C commonName Arg 219 Thr
RISN_ABCR:c.656G>C phenoCommon STGD
RISN_ABCR:c.656G>C protEffect p.Arg219Thr
RISN_ABCR:c.658C>T commonName Arg 220 Cys
RISN_ABCR:c.658C>T phenoCommon STGD
RISN_ABCR:c.658C>T protEffect p.Arg220Cys
RISN_ABCR:c.661delG commonName 661delG
RISN_ABCR:c.661delG phenoCommon STGD
RISN_ABCR:c.664_676del commonName 664del13bp
RISN_ABCR:c.664_676del phenoCommon STGD
RISN_ABCR:c.666_676del commonName 666del11bp
RISN_ABCR:c.666_676del phenoCommon STGD
RISN_ABCR:c.731T>C commonName Leu 244 Pro
RISN_ABCR:c.731T>C phenoCommon STGD
RISN_ABCR:c.731T>C protEffect p.Leu244Pro
RISN_ABCR:c.746A>G commonName Asp 249 Gly
RISN_ABCR:c.746A>G phenoCommon STGD
RISN_ABCR:c.746A>G protEffect p.Asp249Gly
RISN_ABCR:c.769-1G>T commonName IVS6-1g/t
RISN_ABCR:c.769-1G>T phenoCommon STGD
RISN_ABCR:c.832delT commonName 832delT
RISN_ABCR:c.832delT phenoCommon STGD
RISN_ABCR:c.899C>A commonName Thr 300 Asn
RISN_ABCR:c.899C>A phenoCommon STGD
RISN_ABCR:c.899C>A protEffect p.Thr300Asn
RISN_ABCR:c.926C>G commonName Pro 309 Arg
RISN_ABCR:c.926C>G phenoCommon STGD
RISN_ABCR:c.926C>G protEffect p.Pro309Arg
RISN_ABCR:c.997C>T commonName Arg 333 Trp
RISN_ABCR:c.997C>T phenoCommon STGD
RISN_ABCR:c.997C>T protEffect p.Arg333Trp
RISN_ABCR:c.1007C>G commonName Ser 336 Cys
RISN_ABCR:c.1007C>G phenoCommon STGD
RISN_ABCR:c.1007C>G protEffect p.Ser336Cys
RISN_ABCR:c.1018T>G commonName Tyr 340 Asp
RISN_ABCR:c.1018T>G phenoCommon STGD
RISN_ABCR:c.1018T>G protEffect p.Tyr340Asp
RISN_ABCR:c.1140T>A commonName Asn 380 Lys
RISN_ABCR:c.1140T>A phenoCommon STGD
RISN_ABCR:c.1140T>A protEffect p.Asn380Lys
RISN_ABCR:c.1222C>T commonName Arg 408 ter
RISN_ABCR:c.1222C>T phenoCommon STGD
RISN_ABCR:c.1222C>T protEffect p.Arg408X
RISN_ABCR:c.1272T>C commonName Val 424 Ala
RISN_ABCR:c.1272T>C phenoCommon STGD
RISN_ABCR:c.1272T>C protEffect p.Val424Ala
RISN_ABCR:c.1335C>G commonName Ser 445 Arg
RISN_ABCR:c.1335C>G phenoCommon STGD
RISN_ABCR:c.1335C>G protEffect p.Ser445Arg
RISN_ABCR:c.1341delG commonName 1341delG
RISN_ABCR:c.1341delG phenoCommon STGD
RISN_ABCR:c.1344delG commonName 1344delG
RISN_ABCR:c.1344delG phenoCommon STGD
RISN_ABCR:c.1387_1388delTT commonName 1387delTT
RISN_ABCR:c.1387_1388delTT phenoCommon STGD
RISN_ABCR:c.1513_1517delATCAC commonName 1513delATCAC
RISN_ABCR:c.1513_1517delATCAC phenoCommon STGD
RISN_ABCR:c.1526delC commonName 1526delC
RISN_ABCR:c.1526delC phenoCommon STGD
RISN_ABCR:c.1569T>G commonName Asp 523 Glu
RISN_ABCR:c.1569T>G phenoCommon STGD
RISN_ABCR:c.1569T>G protEffect p.Asp523Glu
RISN_ABCR:c.1575T>G commonName Phe 525 Cys
RISN_ABCR:c.1575T>G phenoCommon STGD
RISN_ABCR:c.1575T>G protEffect p.Phe525Cys
RISN_ABCR:c.1609C>T commonName Arg 537 Cys
RISN_ABCR:c.1609C>T phenoCommon STGD
RISN_ABCR:c.1609C>T protEffect p.Arg537Cys
RISN_ABCR:c.1645G>C commonName Ala 549 Pro
RISN_ABCR:c.1645G>C phenoCommon STGD
RISN_ABCR:c.1645G>C protEffect p.Ala549Pro
RISN_ABCR:c.1648G>A commonName Gly 550 Arg
RISN_ABCR:c.1648G>A phenoCommon STGD
RISN_ABCR:c.1648G>A protEffect p.Gly550Arg
RISN_ABCR:c.1715G>A commonName Arg 572 Gln
RISN_ABCR:c.1715G>A phenoCommon STGD
RISN_ABCR:c.1715G>A protEffect p.Arg572Gln
RISN_ABCR:c.1715G>C commonName Arg 572 Pro
RISN_ABCR:c.1715G>C phenoCommon STGD
RISN_ABCR:c.1715G>C protEffect p.Arg572Pro
RISN_ABCR:c.1804C>T commonName Arg 602 Trp
RISN_ABCR:c.1804C>T phenoCommon STGD
RISN_ABCR:c.1804C>T protEffect p.Arg602Trp
RISN_ABCR:c.1805G>A commonName Arg 602 Gln
RISN_ABCR:c.1805G>A phenoCommon STGD
RISN_ABCR:c.1805G>A protEffect p.Arg602Gln
RISN_ABCR:c.1811T>G commonName Ile 604 Ser
RISN_ABCR:c.1811T>G phenoCommon STGD
RISN_ABCR:c.1811T>G protEffect p.Ile604Ser
RISN_ABCR:c.1819G>T commonName Gly 607 Trp
RISN_ABCR:c.1819G>T phenoCommon STGD
RISN_ABCR:c.1819G>T protEffect p.Gly607Trp
RISN_ABCR:c.1819G>A commonName Gly 607 Arg
RISN_ABCR:c.1819G>A phenoCommon STGD
RISN_ABCR:c.1819G>A protEffect p.Gly607Arg
RISN_ABCR:c.1894delA commonName 1894delA
RISN_ABCR:c.1894delA phenoCommon STGD
RISN_ABCR:c.1903C>T commonName Gln 635 ter
RISN_ABCR:c.1903C>T phenoCommon STGD
RISN_ABCR:c.1903C>T protEffect p.Gln635X
RISN_ABCR:c.1917C>A commonName Tyr 639 ter
RISN_ABCR:c.1917C>A phenoCommon STGD
RISN_ABCR:c.1917C>A protEffect p.Tyr639X
RISN_ABCR:c.1922G>C commonName Cys 641 Ser
RISN_ABCR:c.1922G>C phenoCommon STGD
RISN_ABCR:c.1922G>C protEffect p.Cys641Ser
RISN_ABCR:c.1927G>A commonName Val 643 Met
RISN_ABCR:c.1927G>A phenoCommon STGD
RISN_ABCR:c.1927G>A protEffect p.Val643Met
RISN_ABCR:c.1933G>A commonName Asp 645 Asn
RISN_ABCR:c.1933G>A phenoCommon STGD
RISN_ABCR:c.1933G>A protEffect p.Asp645Asn
RISN_ABCR:c.1937+2T>C commonName IVS13+2t>c
RISN_ABCR:c.1937+2T>C phenoCommon STGD
RISN_ABCR:c.1957C>T commonName Arg 653 Cys
RISN_ABCR:c.1957C>T phenoCommon STGD
RISN_ABCR:c.1957C>T protEffect p.Arg653Cys
RISN_ABCR:c.1989G>A commonName Trp 663 ter
RISN_ABCR:c.1989G>A phenoCommon STGD
RISN_ABCR:c.1989G>A protEffect p.Trp663X
RISN_ABCR:c.2005_2006delAT commonName 2005delAT
RISN_ABCR:c.2005_2006delAT phenoCommon STGD
RISN_ABCR:c.2041C>T commonName Arg 681 ter
RISN_ABCR:c.2041C>T phenoCommon STGD
RISN_ABCR:c.2041C>T protEffect p.Arg681X
RISN_ABCR:c.2090G>A commonName Trp 697 ter
RISN_ABCR:c.2090G>A phenoCommon STGD
RISN_ABCR:c.2090G>A protEffect p.Trp697X
RISN_ABCR:c.2099G>A commonName Trp 700 ter
RISN_ABCR:c.2099G>A phenoCommon STGD
RISN_ABCR:c.2099G>A protEffect p.Trp700X
RISN_ABCR:c.2147C>T commonName Thr 716 Met
RISN_ABCR:c.2147C>T phenoCommon STGD
RISN_ABCR:c.2147C>T protEffect p.Thr716Met
RISN_ABCR:c.2160+1G>C commonName IVS14+1g>c
RISN_ABCR:c.2160+1G>C phenoCommon STGD
RISN_ABCR:c.2291G>A commonName Cys 764 Tyr
RISN_ABCR:c.2291G>A phenoCommon STGD
RISN_ABCR:c.2291G>A protEffect p.Cys764Tyr
RISN_ABCR:c.2294G>A commonName Ser 765 Asn
RISN_ABCR:c.2294G>A phenoCommon STGD
RISN_ABCR:c.2294G>A protEffect p.Ser765Asn
RISN_ABCR:c.2337C>A commonName Cys 779 ter
RISN_ABCR:c.2337C>A phenoCommon STGD
RISN_ABCR:c.2337C>A protEffect p.Cys779X
RISN_ABCR:c.2385_2400del commonName 2385del16bp
RISN_ABCR:c.2385_2400del phenoCommon STGD
RISN_ABCR:c.2390T>C commonName Leu 797 Pro
RISN_ABCR:c.2390T>C phenoCommon STGD
RISN_ABCR:c.2390T>C protEffect p.Leu797Pro
RISN_ABCR:c.2461T>A commonName Trp 821 Arg
RISN_ABCR:c.2461T>A phenoCommon STGD
RISN_ABCR:c.2461T>A protEffect p.Trp821Arg
RISN_ABCR:c.2472C>T commonName Ile 824 Thr
RISN_ABCR:c.2472C>T phenoCommon STGD
RISN_ABCR:c.2472C>T protEffect p.Ile824Thr
RISN_ABCR:c.2546T>C commonName Val 849 Ala
RISN_ABCR:c.2546T>C phenoCommon STGD
RISN_ABCR:c.2546T>C protEffect p.Val849Ala
RISN_ABCR:c.2552G>A commonName Gly 851 Asp
RISN_ABCR:c.2552G>A phenoCommon STGD
RISN_ABCR:c.2552G>A protEffect p.Gly851Asp
RISN_ABCR:c.2560G>A commonName Ala 854 Thr
RISN_ABCR:c.2560G>A phenoCommon STGD
RISN_ABCR:c.2560G>A protEffect p.Ala854Thr
RISN_ABCR:c.2565G>A commonName Trp 855 ter
RISN_ABCR:c.2565G>A phenoCommon STGD
RISN_ABCR:c.2565G>A protEffect p.Trp855X
RISN_ABCR:c.2587+1G>A commonName IVS16+1g>a
RISN_ABCR:c.2587+1G>A phenoCommon STGD
RISN_ABCR:c.2617T>C commonName Phe 873 Leu
RISN_ABCR:c.2617T>C phenoCommon STGD
RISN_ABCR:c.2617T>C protEffect p.Phe873Leu
RISN_ABCR:c.2690C>T commonName Thr 897 Ile
RISN_ABCR:c.2690C>T phenoCommon STGD
RISN_ABCR:c.2690C>T protEffect p.Thr897Ile
RISN_ABCR:c.2692G>A commonName Glu 898 Lys
RISN_ABCR:c.2692G>A phenoCommon STGD
RISN_ABCR:c.2692G>A protEffect p.Glu898Lys
RISN_ABCR:c.2703A>G commonName Thr 901 Arg
RISN_ABCR:c.2703A>G phenoCommon STGD
RISN_ABCR:c.2703A>G protEffect p.Thr901Arg
RISN_ABCR:c.2791G>A commonName Val 931 Met
RISN_ABCR:c.2791G>A phenoCommon STGD
RISN_ABCR:c.2791G>A protEffect p.Val931Met
RISN_ABCR:c.2804T>C commonName Val 935 Ala
RISN_ABCR:c.2804T>C phenoCommon STGD
RISN_ABCR:c.2804T>C protEffect p.Val935Ala
RISN_ABCR:c.2820C>G commonName Pro 940 Arg
RISN_ABCR:c.2820C>G phenoCommon STGD
RISN_ABCR:c.2820C>G protEffect p.Pro940Arg
RISN_ABCR:c.2827C>T commonName Arg 943 Trp
RISN_ABCR:c.2827C>T phenoCommon STGD
RISN_ABCR:c.2827C>T protEffect p.Arg943Trp
RISN_ABCR:c.2860T>G commonName Tyr 954 Asp
RISN_ABCR:c.2860T>G phenoCommon STGD
RISN_ABCR:c.2860T>G protEffect p.Tyr954Asp
RISN_ABCR:c.2870A>G commonName Gln 957 Arg
RISN_ABCR:c.2870A>G phenoCommon STGD
RISN_ABCR:c.2870A>G protEffect p.Gln957Arg
RISN_ABCR:c.2893A>G commonName Asn 965 Ser
RISN_ABCR:c.2893A>G phenoCommon STGD
RISN_ABCR:c.2893A>G protEffect p.Asn965Ser
RISN_ABCR:c.2912C>A commonName Thr 971 Asn
RISN_ABCR:c.2912C>A phenoCommon STGD
RISN_ABCR:c.2912C>A protEffect p.Thr971Asn
RISN_ABCR:c.2915C>A commonName Thr 972 Asn
RISN_ABCR:c.2915C>A phenoCommon STGD
RISN_ABCR:c.2915C>A protEffect p.Thr972Asn
RISN_ABCR:c.2920T>C commonName Ser 974 Pro
RISN_ABCR:c.2920T>C phenoCommon STGD
RISN_ABCR:c.2920T>C protEffect p.Ser974Pro
RISN_ABCR:c.2932G>T commonName Gly 978 Cys
RISN_ABCR:c.2932G>T phenoCommon STGD
RISN_ABCR:c.2932G>T protEffect p.Gly978Cys
RISN_ABCR:c.(?_2919)_(3328_?)del commonName del exon 20 - 22
RISN_ABCR:c.(?_2919)_(3328_?)del phenoCommon STGD
RISN_ABCR:c.2933G>A commonName Gly 978 Asp
RISN_ABCR:c.2933G>A phenoCommon STGD
RISN_ABCR:c.2933G>A protEffect p.Gly978Asp
RISN_ABCR:c.2966T>C commonName Val 989 Ala
RISN_ABCR:c.2966T>C phenoCommon STGD
RISN_ABCR:c.2966T>C protEffect p.Val989Ala
RISN_ABCR:c.2971G>T commonName Gly 991 ter
RISN_ABCR:c.2971G>T phenoCommon STGD
RISN_ABCR:c.2971G>T protEffect p.Gly991X
RISN_ABCR:c.2977_2984del commonName 2977del8bp
RISN_ABCR:c.2977_2984del phenoCommon STGD
RISN_ABCR:c.3041T>G commonName Leu 1014 Arg
RISN_ABCR:c.3041T>G phenoCommon STGD
RISN_ABCR:c.3041T>G protEffect p.Leu1014Arg
RISN_ABCR:c.3055A>G commonName Thr 1019 Ala
RISN_ABCR:c.3055A>G phenoCommon STGD
RISN_ABCR:c.3055A>G protEffect p.Thr1019Ala
RISN_ABCR:c.3057G>T commonName Thr 1019 Met
RISN_ABCR:c.3057G>T phenoCommon STGD
RISN_ABCR:c.3057G>T protEffect p.Thr1019Met
RISN_ABCR:c.3064G>A commonName Glu 1022 Lys
RISN_ABCR:c.3064G>A phenoCommon STGD
RISN_ABCR:c.3064G>A protEffect p.Glu1022Lys
RISN_ABCR:c.3091A>G commonName Lys 1031 Glu
RISN_ABCR:c.3091A>G phenoCommon STGD
RISN_ABCR:c.3091A>G protEffect p.Lys1031Glu
RISN_ABCR:c.3106G>A commonName Glu 1036 Lys
RISN_ABCR:c.3106G>A phenoCommon STGD
RISN_ABCR:c.3106G>A protEffect p.Glu1036Lys
RISN_ABCR:c.3149G>A commonName Gly 1050 Asp
RISN_ABCR:c.3149G>A phenoCommon STGD
RISN_ABCR:c.3149G>A protEffect p.Gly1050Asp
RISN_ABCR:c.3205_3206dupAA commonName 3205insAA
RISN_ABCR:c.3205_3206dupAA phenoCommon STGD
RISN_ABCR:c.3210_3211insGT commonName 3211insGT
RISN_ABCR:c.3210_3211insGT phenoCommon STGD
RISN_ABCR:c.3212C>T commonName Ser 1071 Leu
RISN_ABCR:c.3212C>T phenoCommon STGD
RISN_ABCR:c.3212C>T protEffect p.Ser1071Leu
RISN_ABCR:c.3216T>C commonName Val 1072 Ala
RISN_ABCR:c.3216T>C phenoCommon STGD
RISN_ABCR:c.3216T>C protEffect p.Val1072Ala
RISN_ABCR:c.3291A>G commonName Arg 1098 Cys
RISN_ABCR:c.3291A>G phenoCommon STGD
RISN_ABCR:c.3291A>G protEffect p.Arg1098Cys
RISN_ABCR:c.3295T>C commonName Ser 1099 Pro
RISN_ABCR:c.3295T>C phenoCommon STGD
RISN_ABCR:c.3295T>C protEffect p.Ser1099Pro
RISN_ABCR:c.3322C>T commonName Arg 1108 Cys
RISN_ABCR:c.3322C>T phenoCommon STGD
RISN_ABCR:c.3322C>T protEffect p.Arg1108Cys
RISN_ABCR:c.3323G>A commonName Arg 1108 His
RISN_ABCR:c.3323G>A phenoCommon STGD
RISN_ABCR:c.3323G>A protEffect p.Arg1108His
RISN_ABCR:c.3335C>A commonName Thr 1112 Asn
RISN_ABCR:c.3335C>A phenoCommon STGD
RISN_ABCR:c.3335C>A protEffect p.Thr1112Asn
RISN_ABCR:c.3366G>C commonName Glu 1122 Asp
RISN_ABCR:c.3366G>C phenoCommon STGD
RISN_ABCR:c.3366G>C protEffect p.Glu1122Asp
RISN_ABCR:c.3392delC commonName 3392delC
RISN_ABCR:c.3392delC phenoCommon STGD
RISN_ABCR:c.3531C>A commonName Cys 1177 ter
RISN_ABCR:c.3531C>A phenoCommon STGD
RISN_ABCR:c.3531C>A protEffect p.Cys1177X
RISN_ABCR:c.3602T>G commonName Leu 1201 Arg
RISN_ABCR:c.3602T>G phenoCommon STGD
RISN_ABCR:c.3602T>G protEffect p.Leu1201Arg
RISN_ABCR:c.3610G>A commonName Asp 1204 Asn
RISN_ABCR:c.3610G>A phenoCommon STGD
RISN_ABCR:c.3610G>A protEffect p.Asp1204Asn
RISN_ABCR:c.3749T>C commonName Leu 1250 Pro
RISN_ABCR:c.3749T>C phenoCommon STGD
RISN_ABCR:c.3749T>C protEffect p.Leu1250Pro
RISN_ABCR:c.3835_3840delGATTCT commonName 3835delGATTCT
RISN_ABCR:c.3835_3840delGATTCT phenoCommon STGD
RISN_ABCR:c.3899G>A commonName Arg 1300 Gln
RISN_ABCR:c.3899G>A phenoCommon STGD
RISN_ABCR:c.3899G>A protEffect p.Arg1300Gln
RISN_ABCR:c.4139C>T commonName Pro 1380 Leu
RISN_ABCR:c.4139C>T phenoCommon STGD
RISN_ABCR:c.4139C>T protEffect p.Pro1380Leu
RISN_ABCR:c.4163T>C commonName Leu 1388 Pro
RISN_ABCR:c.4163T>C phenoCommon STGD
RISN_ABCR:c.4163T>C protEffect p.Leu1388Pro
RISN_ABCR:c.4195G>A commonName Glu 1399 Lys
RISN_ABCR:c.4195G>A phenoCommon STGD
RISN_ABCR:c.4195G>A protEffect p.Glu1399Lys
RISN_ABCR:c.4200C>T commonName Tyr 1400 ter
RISN_ABCR:c.4200C>T phenoCommon STGD
RISN_ABCR:c.4200C>T protEffect p.Tyr1400X
RISN_ABCR:c.4216C>T commonName His 1406 Tyr
RISN_ABCR:c.4216C>T phenoCommon STGD
RISN_ABCR:c.4216C>T protEffect p.His1406Tyr
RISN_ABCR:c.4223G>T commonName Trp 1408 Leu
RISN_ABCR:c.4223G>T phenoCommon STGD
RISN_ABCR:c.4223G>T protEffect p.Trp1408Leu
RISN_ABCR:c.4222T>C commonName Trp 1408 Arg
RISN_ABCR:c.4222T>C phenoCommon STGD
RISN_ABCR:c.4222T>C protEffect p.Trp1408Arg
RISN_ABCR:c.4231_4232insTATG commonName 4232insTATG
RISN_ABCR:c.4231_4232insTATG phenoCommon STGD
RISN_ABCR:c.4234C>T commonName Gln 1412 ter
RISN_ABCR:c.4234C>T phenoCommon STGD
RISN_ABCR:c.4234C>T protEffect p.Gln1412X
RISN_ABCR:c.4253+5G>T commonName IVS28+5g>t
RISN_ABCR:c.4253+5G>T phenoCommon STGD
RISN_ABCR:c.4253+1G>T commonName IVS28+1g>t
RISN_ABCR:c.4253+1G>T phenoCommon STGD
RISN_ABCR:c.4316G>A commonName Gly 1439 Asp
RISN_ABCR:c.4316G>A phenoCommon STGD
RISN_ABCR:c.4316G>A protEffect p.Gly1439Asp
RISN_ABCR:c.4319T>C commonName Phe 1440 Ser
RISN_ABCR:c.4319T>C phenoCommon STGD
RISN_ABCR:c.4319T>C protEffect p.Phe1440Ser
RISN_ABCR:c.4328G>A commonName Arg 1443 His
RISN_ABCR:c.4328G>A phenoCommon STGD
RISN_ABCR:c.4328G>A protEffect p.Arg1443His
RISN_ABCR:c.4346G>A commonName Trp 1449 ter
RISN_ABCR:c.4346G>A phenoCommon STGD
RISN_ABCR:c.4346G>A protEffect p.Trp1449X
RISN_ABCR:c.4353-1G>T commonName IVS29-1g>t
RISN_ABCR:c.4353-1G>T phenoCommon STGD
RISN_ABCR:c.4457C>T commonName Pro 1486 Leu
RISN_ABCR:c.4457C>T phenoCommon STGD
RISN_ABCR:c.4457C>T protEffect p.Pro1486Leu
RISN_ABCR:c.4462T>C commonName Cys 1488 Arg
RISN_ABCR:c.4462T>C phenoCommon STGD
RISN_ABCR:c.4462T>C protEffect p.Cys1488Arg
RISN_ABCR:c.4463G>T commonName Cys 1488 Phe
RISN_ABCR:c.4463G>T phenoCommon STGD
RISN_ABCR:c.4463G>T protEffect p.Cys1488Phe
RISN_ABCR:c.4468T>A commonName Cys 1490 Tyr
RISN_ABCR:c.4468T>A phenoCommon STGD
RISN_ABCR:c.4468T>A protEffect p.Cys1490Tyr
RISN_ABCR:c.4506C>A commonName Cys 1502 ter
RISN_ABCR:c.4506C>A phenoCommon STGD
RISN_ABCR:c.4506C>A protEffect p.Cys1502X
RISN_ABCR:c.4535C>G commonName Pro 1512 Arg
RISN_ABCR:c.4535C>G phenoCommon STGD
RISN_ABCR:c.4535C>G protEffect p.Pro1512Arg
RISN_ABCR:c.4538A>G commonName Gln 1513 Arg
RISN_ABCR:c.4538A>G phenoCommon STGD
RISN_ABCR:c.4538A>G protEffect p.Gln1513Arg
RISN_ABCR:c.4574T>C commonName Leu 1525 Pro
RISN_ABCR:c.4574T>C phenoCommon STGD
RISN_ABCR:c.4574T>C protEffect p.Leu1525Pro
RISN_ABCR:c.4577C>T commonName Thr 1526 Met
RISN_ABCR:c.4577C>T phenoCommon STGD
RISN_ABCR:c.4577C>T protEffect p.Thr1526Met
RISN_ABCR:c.4594G>A commonName Asp 1532 Asn
RISN_ABCR:c.4594G>A phenoCommon STGD
RISN_ABCR:c.4594G>A protEffect p.Asp1532Asn
RISN_ABCR:c.4610C>T commonName Thr 1537 Met
RISN_ABCR:c.4610C>T phenoCommon STGD
RISN_ABCR:c.4610C>T protEffect p.Thr1537Met
RISN_ABCR:c.4748T>C commonName Leu 1583 Pro
RISN_ABCR:c.4748T>C phenoCommon STGD
RISN_ABCR:c.4748T>C protEffect p.Leu1583Pro
RISN_ABCR:c.4774-2A>C commonName IVS33-2a>c
RISN_ABCR:c.4774-2A>C phenoCommon STGD
RISN_ABCR:c.4793C>A commonName Ala 1598 Asp
RISN_ABCR:c.4793C>A phenoCommon STGD
RISN_ABCR:c.4793C>A protEffect p.Ala1598Asp
RISN_ABCR:c.4849-1G>C commonName IVS34-1g>c
RISN_ABCR:c.4849-1G>C phenoCommon STGD
RISN_ABCR:c.4859_4864delins4 commonName 4856del6bpins4bp
RISN_ABCR:c.4859_4864delins4 phenoCommon STGD
RISN_ABCR:c.4867G>A commonName Gly 1623 Ser
RISN_ABCR:c.4867G>A phenoCommon STGD
RISN_ABCR:c.4867G>A protEffect p.Gly1623Ser
RISN_ABCR:c.4892T>C commonName Leu 1631 Pro
RISN_ABCR:c.4892T>C phenoCommon STGD
RISN_ABCR:c.4892T>C protEffect p.Leu1631Pro
RISN_ABCR:c.4944delC commonName 4944delC
RISN_ABCR:c.4944delC phenoCommon STGD
RISN_ABCR:c.4954T>G commonName Tyr 1652 Asp
RISN_ABCR:c.4954T>G phenoCommon STGD
RISN_ABCR:c.4954T>G protEffect p.Tyr1652Asp
RISN_ABCR:c.4956T>G commonName Tyr 1652 ter
RISN_ABCR:c.4956T>G phenoCommon STGD
RISN_ABCR:c.4956T>G protEffect p.Tyr1652X
RISN_ABCR:c.5018+2T>C commonName IVS35+2t>c
RISN_ABCR:c.5018+2T>C phenoCommon STGD
RISN_ABCR:c.5041_5055del commonName 5041del15bp
RISN_ABCR:c.5041_5055del phenoCommon STGD
RISN_ABCR:c.5077G>A commonName Val 1693 Ile
RISN_ABCR:c.5077G>A phenoCommon STGD
RISN_ABCR:c.5077G>A protEffect p.Val1693Ile
RISN_ABCR:c.5087G>A commonName Ser 1696 Asn
RISN_ABCR:c.5087G>A phenoCommon STGD
RISN_ABCR:c.5087G>A protEffect p.Ser1696Asn
RISN_ABCR:c.5107C>G commonName Gln 1703 Glu
RISN_ABCR:c.5107C>G phenoCommon STGD
RISN_ABCR:c.5107C>G protEffect p.Gln1703Glu
RISN_ABCR:c.5161_5162delAC commonName 5161delAC
RISN_ABCR:c.5161_5162delAC phenoCommon STGD
RISN_ABCR:c.5186T>C commonName Leu 1729 Pro
RISN_ABCR:c.5186T>C phenoCommon STGD
RISN_ABCR:c.5186T>C protEffect p.Leu1729Pro
RISN_ABCR:c.5206T>C commonName Ser 1736 Pro
RISN_ABCR:c.5206T>C phenoCommon STGD
RISN_ABCR:c.5206T>C protEffect p.Ser1736Pro
RISN_ABCR:c.5212_5222del commonName 5212del11bp
RISN_ABCR:c.5212_5222del phenoCommon STGD
RISN_ABCR:c.5222_5232delTGGTGGTGGGC commonName 5222delTGGTGGTGGGC
RISN_ABCR:c.5222_5232delTGGTGGTGGGC phenoCommon STGD
RISN_ABCR:c.5223_5233del commonName 5223del11bp
RISN_ABCR:c.5223_5233del phenoCommon STGD
RISN_ABCR:c.5281_5289del commonName 5281del9bp
RISN_ABCR:c.5281_5289del phenoCommon STGD
RISN_ABCR:c.5316G>A commonName Trp 1772 ter
RISN_ABCR:c.5316G>A phenoCommon STGD
RISN_ABCR:c.5316G>A protEffect p.Trp1772X
RISN_ABCR:c.5327_5328delinsTG commonName Pro 1776 Leu
RISN_ABCR:c.5327_5328delinsTG phenoCommon STGD
RISN_ABCR:c.5327_5328delinsTG protEffect p.Pro1776Leu
RISN_ABCR:c.5337C>G commonName Tyr 1779 ter
RISN_ABCR:c.5337C>G phenoCommon STGD
RISN_ABCR:c.5337C>G protEffect p.Tyr1779X
RISN_ABCR:c.5395A>G commonName Asn 1799 Asp
RISN_ABCR:c.5395A>G phenoCommon STGD
RISN_ABCR:c.5395A>G protEffect p.Asn1799Asp
RISN_ABCR:c.5459G>C commonName Arg 1820 Pro
RISN_ABCR:c.5459G>C phenoCommon STGD
RISN_ABCR:c.5459G>C protEffect p.Arg1820Pro
RISN_ABCR:c.5512C>T commonName His 1838 Tyr
RISN_ABCR:c.5512C>T phenoCommon STGD
RISN_ABCR:c.5512C>T protEffect p.His1838Tyr
RISN_ABCR:c.5527C>T commonName Arg 1843 Trp
RISN_ABCR:c.5527C>T phenoCommon STGD
RISN_ABCR:c.5527C>T protEffect p.Arg1843Trp
RISN_ABCR:c.5537T>C commonName Ile 1846 Thr
RISN_ABCR:c.5537T>C phenoCommon STGD
RISN_ABCR:c.5537T>C protEffect p.Ile1846Thr
RISN_ABCR:c.5584+5G>A commonName IVS39+5g>a
RISN_ABCR:c.5584+5G>A phenoCommon STGD
RISN_ABCR:c.5584+6T>C commonName IVS39+6t>c
RISN_ABCR:c.5584+6T>C phenoCommon STGD
RISN_ABCR:c.5585-1G>A commonName IVS39-1g>a
RISN_ABCR:c.5585-1G>A phenoCommon STGD
RISN_ABCR:c.5644A>G commonName Met 1882 Val
RISN_ABCR:c.5644A>G phenoCommon STGD
RISN_ABCR:c.5644A>G protEffect p.Met1882Val
RISN_ABCR:c.5651T>A commonName Val 1884 Glu
RISN_ABCR:c.5651T>A phenoCommon STGD
RISN_ABCR:c.5651T>A protEffect p.Val1884Glu
RISN_ABCR:c.5657G>A commonName Gly 1886 Glu
RISN_ABCR:c.5657G>A phenoCommon STGD
RISN_ABCR:c.5657G>A protEffect p.Gly1886Glu
RISN_ABCR:c.5668_5670delTTC commonName 5668delTTC
RISN_ABCR:c.5668_5670delTTC phenoCommon STGD
RISN_ABCR:c.5687T>A commonName Val 1896 Asp
RISN_ABCR:c.5687T>A phenoCommon STGD
RISN_ABCR:c.5687T>A protEffect p.Val1896Asp
RISN_ABCR:c.5836-2delA commonName IVS41-2del a
RISN_ABCR:c.5836-2delA phenoCommon STGD
RISN_ABCR:c.5898+1G>T commonName IVS42+1g>t
RISN_ABCR:c.5898+1G>T phenoCommon STGD
RISN_ABCR:c.5929G>A commonName Gly 1977 Ser
RISN_ABCR:c.5929G>A phenoCommon STGD
RISN_ABCR:c.5929G>A protEffect p.Gly1977Ser
RISN_ABCR:c.5961_5964delGGAC commonName 5961delGGAC
RISN_ABCR:c.5961_5964delGGAC phenoCommon STGD
RISN_ABCR:c.6089G>A commonName Arg 2030 Gln
RISN_ABCR:c.6089G>A phenoCommon STGD
RISN_ABCR:c.6089G>A protEffect p.Arg2030Gln
RISN_ABCR:c.6104T>C commonName Leu 2035 Pro
RISN_ABCR:c.6104T>C phenoCommon STGD
RISN_ABCR:c.6104T>C protEffect p.Leu2035Pro
RISN_ABCR:c.6112C>T commonName Arg 2038 Trp
RISN_ABCR:c.6112C>T phenoCommon STGD
RISN_ABCR:c.6112C>T protEffect p.Arg2038Trp
RISN_ABCR:c.6166A>T commonName Lys 2056 ter
RISN_ABCR:c.6166A>T phenoCommon STGD
RISN_ABCR:c.6166A>T protEffect p.Lys2056X
RISN_ABCR:c.6213C>T commonName Tyr 2071 Phe
RISN_ABCR:c.6213C>T phenoCommon STGD
RISN_ABCR:c.6213C>T protEffect p.Tyr2071Phe
RISN_ABCR:c.6229C>T commonName Arg 2077 Trp
RISN_ABCR:c.6229C>T phenoCommon STGD
RISN_ABCR:c.6229C>T protEffect p.Arg2077Trp
RISN_ABCR:c.6286G>A commonName Glu 2096 Lys
RISN_ABCR:c.6286G>A phenoCommon STGD
RISN_ABCR:c.6286G>A protEffect p.Glu2096Lys
RISN_ABCR:c.6300delG commonName 6300delG
RISN_ABCR:c.6300delG phenoCommon STGD
RISN_ABCR:c.6316C>T commonName Arg 2106 Cys
RISN_ABCR:c.6316C>T phenoCommon STGD
RISN_ABCR:c.6316C>T protEffect p.Arg2106Cys
RISN_ABCR:c.6320G>A commonName Arg 2107 His
RISN_ABCR:c.6320G>A phenoCommon STGD
RISN_ABCR:c.6320G>A protEffect p.Arg2107His
RISN_ABCR:c.6339C>G commonName Ile 2113 Met
RISN_ABCR:c.6339C>G phenoCommon STGD
RISN_ABCR:c.6339C>G protEffect p.Ile2113Met
RISN_ABCR:c.6352delA commonName 6352delA
RISN_ABCR:c.6352delA phenoCommon STGD
RISN_ABCR:c.6383A>G commonName His 2128 Arg
RISN_ABCR:c.6383A>G phenoCommon STGD
RISN_ABCR:c.6383A>G protEffect p.His2128Arg
RISN_ABCR:c.6391G>A commonName Glu 2131 Lys
RISN_ABCR:c.6391G>A phenoCommon STGD
RISN_ABCR:c.6391G>A protEffect p.Glu2131Lys
RISN_ABCR:c.6415C>T commonName Arg 2139 Trp
RISN_ABCR:c.6415C>T phenoCommon STGD
RISN_ABCR:c.6415C>T protEffect p.Arg2139Trp
RISN_ABCR:c.6445C>T commonName Arg 2149 ter
RISN_ABCR:c.6445C>T phenoCommon STGD
RISN_ABCR:c.6445C>T protEffect p.Arg2149X
RISN_ABCR:c.6446G>T commonName Arg 2149 Leu
RISN_ABCR:c.6446G>T phenoCommon STGD
RISN_ABCR:c.6446G>T protEffect p.Arg2149Leu
RISN_ABCR:c.6448T>C commonName Cys 2150 Arg
RISN_ABCR:c.6448T>C phenoCommon STGD
RISN_ABCR:c.6448T>C protEffect p.Cys2150Arg
RISN_ABCR:c.6479A>G commonName Lys 2160 Arg
RISN_ABCR:c.6479A>G phenoCommon STGD
RISN_ABCR:c.6479A>G protEffect p.Lys2160Arg
RISN_ABCR:c.6543_6578del commonName 6543del36bp
RISN_ABCR:c.6543_6578del phenoCommon STGD
RISN_ABCR:c.6563T>C commonName Phe 2188 Ser
RISN_ABCR:c.6563T>C phenoCommon STGD
RISN_ABCR:c.6563T>C protEffect p.Phe2188Ser
RISN_ABCR:c.6686T>C commonName Leu 2229 Pro
RISN_ABCR:c.6686T>C phenoCommon STGD
RISN_ABCR:c.6686T>C protEffect p.Leu2229Pro
RISN_ABCR:c.6707_6714delTCACACAG commonName 6707delTCACACAG
RISN_ABCR:c.6707_6714delTCACACAG phenoCommon STGD
RISN_ABCR:c.6708_6709insG commonName 6709insG
RISN_ABCR:c.6708_6709insG phenoCommon STGD
RISN_ABCR:c.6729+1G>A commonName IVS48+1g>a
RISN_ABCR:c.6729+1G>A phenoCommon STGD
RISN_ABCR:c.6748delA commonName 6748delA
RISN_ABCR:c.6748delA phenoCommon STGD
RISN_ABCR:c.6788G>T commonName Arg 2263 Leu
RISN_ABCR:c.6788G>T phenoCommon STGD
RISN_ABCR:c.6788G>T protEffect p.Arg2263Leu
RISN_ABCR:c.2828G>A commonName Arg 943 Gln
RISN_ABCR:c.2828G>A phenoCommon STGD + AMD
RISN_ABCR:c.2828G>A protEffect p.Arg943Gln
RISN_ABCR:c.3050+5G>A commonName IVS20+5g>a
RISN_ABCR:c.3050+5G>A phenoCommon STGD + AMD
RISN_ABCR:c.5451T>G commonName Asp 1817 Glu
RISN_ABCR:c.5451T>G phenoCommon STGD, AMD
RISN_ABCR:c.5451T>G protEffect p.Asp1817Glu
RISN_ABCR:c.6764G>T commonName Ser 2255 Ile
RISN_ABCR:c.6764G>T phenoCommon STGD, AMD
RISN_ABCR:c.6764G>T protEffect p.Ser2255Ile
RISN_ABCR:c.1938-1G>A commonName IVS13-1g>a
RISN_ABCR:c.1938-1G>A phenoCommon STGD, ARRP
RISN_ABCR:c.1220C>T commonName Ala 407 Val
RISN_ABCR:c.1220C>T phenoCommon STGD, arCRD
RISN_ABCR:c.1220C>T protEffect p.Ala407Val
RISN_RPGRIP:c.1639G>T commonName Ala 547 Ser
RISN_RPGRIP:c.1639G>T phenoCommon CRD
RISN_RPGRIP:c.1639G>T protEffect p.Ala547Ser
RISN_RPGRIP:c.2480G>T commonName Arg 827 Leu
RISN_RPGRIP:c.2480G>T phenoCommon CRD
RISN_RPGRIP:c.2480G>T protEffect p.Arg827Leu
RISN_RPGRIP:c.195G>A commonName Trp 65 ter
RISN_RPGRIP:c.195G>A phenoCommon LCA7
RISN_RPGRIP:c.195G>A protEffect p.Trp65X
RISN_RPGRIP:c.511delT commonName 511delT
RISN_RPGRIP:c.511delT phenoCommon LCA7
RISN_RPGRIP:c.1103delA commonName 1103delA
RISN_RPGRIP:c.1103delA phenoCommon LCA7
RISN_RPGRIP:c.1525C>T commonName Gln 509 ter
RISN_RPGRIP:c.1525C>T phenoCommon LCA7
RISN_RPGRIP:c.1525C>T protEffect p.Gln509X
RISN_RPGRIP:c.15500_15501insTGTC commonName 1501insTGTC
RISN_RPGRIP:c.15500_15501insTGTC phenoCommon LCA7
RISN_RPGRIP:c.2237G>A commonName Gly 764 Glu
RISN_RPGRIP:c.2237G>A phenoCommon LCA7
RISN_RPGRIP:c.2237G>A protEffect p.Gly764Glu
RISN_RPGRIP:c.2565_2566insTT commonName 2566insTT
RISN_RPGRIP:c.2565_2566insTT phenoCommon LCA7
RISN_RPGRIP:c.2759dupA commonName 2759insA
RISN_RPGRIP:c.2759dupA phenoCommon LCA7
RISN_RPGRIP:c.3609delT commonName 3609delT
RISN_RPGRIP:c.3609delT phenoCommon LCA7
RISN_RPGRIP:c.3628_3629insG commonName 3629insG
RISN_RPGRIP:c.3628_3629insG phenoCommon LCA7
RISN_RPGRIP:c.3835_3837delGAG commonName 3835delGAG
RISN_RPGRIP:c.3835_3837delGAG phenoCommon LCA7
RISN_RPGRIP:c.287C>A commonName Pro 96 Gln
RISN_RPGRIP:c.287C>A protEffect p.Pro96Gln
RISN_RPGRIP:c.525A>G commonName Pro 175 Pro
RISN_RPGRIP:c.525A>G protEffect p.Pro175Pro
RISN_RPGRIP:c.574A>G commonName Lys 192 Glu
RISN_RPGRIP:c.574A>G protEffect p.Lys192Glu
RISN_RPGRIP:c.1797G>A commonName Pro 572 Pro
RISN_RPGRIP:c.1797G>A protEffect p.Pro572Pro
RISN_RPGRIP:c.3546C>T commonName Asp 1182 Asp
RISN_RPGRIP:c.3546C>T protEffect p.Asp1182Asp
RISN_RPGRIP:c.3780A>T commonName Ile 1260 Ile
RISN_RPGRIP:c.3780A>T protEffect p.Ile1260Ile
RISN_RPGRIP:c.256C>T commonName Arg 86 Trp
RISN_RPGRIP:c.256C>T phenoCommon Uncertain Pathogeneity
RISN_RPGRIP:c.256C>T protEffect p.Arg86Trp
RISN_RPGRIP:c.1707T>G commonName Gln 589 His
RISN_RPGRIP:c.1707T>G phenoCommon Uncertain Pathogeneity
RISN_RPGRIP:c.1707T>G protEffect p.Gln589His
RISN_RPGRIP:c.2627A>G commonName Asp 876 Gly
RISN_RPGRIP:c.2627A>G phenoCommon Uncertain Pathogeneity
RISN_RPGRIP:c.2627A>G protEffect p.Asp876Gly
RISN_RPE65:c.2T>C commonName Met 1 Thr
RISN_RPE65:c.2T>C phenoCommon LCA2, ARRP
RISN_RPE65:c.2T>C protEffect p.Met1Thr
RISN_RPE65:c.11+34T>A commonName IVS1+34t/a
RISN_RPE65:c.11+5G>A commonName IVS1+5g>a
RISN_RPE65:c.11+5G>A phenoCommon LCA2, ARRP
RISN_RPE65:c.48T>C commonName Phe 16 Phe
RISN_RPE65:c.48T>C protEffect p.Phe16Phe
RISN_RPE65:c.57_58delGG commonName 57delGG
RISN_RPE65:c.57_58delGG phenoCommon LCA
RISN_RPE65:c.65T>C commonName Leu 22 Pro
RISN_RPE65:c.65T>C phenoCommon LCA
RISN_RPE65:c.65T>C protEffect p.Leu22Pro
RISN_RPE65:c.89_90insT commonName 90insT
RISN_RPE65:c.89_90insT phenoCommon LCA
RISN_RPE65:c.95G>T commonName Gly 32 Val
RISN_RPE65:c.95G>T protEffect p.Gly32Val
RISN_RPE65:c.95-2A>T commonName IVS2-2a>t
RISN_RPE65:c.95-2A>T phenoCommon LCA
RISN_RPE65:c.106_114delCTCTGGCTC commonName 106delCTCTGGCTC
RISN_RPE65:c.118G>A commonName Gly 40 Ser
RISN_RPE65:c.118G>A phenoCommon LCA
RISN_RPE65:c.118G>A protEffect p.Gly40Ser
RISN_RPE65:c.131G>A commonName Arg 44 Gln
RISN_RPE65:c.131G>A phenoCommon LCA
RISN_RPE65:c.131G>A protEffect p.Arg44Gln
RISN_RPE65:c.136delG commonName 136delG
RISN_RPE65:c.136delG phenoCommon LCA
RISN_RPE65:c.202C>T commonName His 68 Tyr
RISN_RPE65:c.202C>T phenoCommon LCA
RISN_RPE65:c.202C>T protEffect p.His68Tyr
RISN_RPE65:c.208_209delinsGG commonName Phe 70 Val
RISN_RPE65:c.208_209delinsGG protEffect p.Phe70Val
RISN_RPE65:c.231C>A commonName Val 77 Val
RISN_RPE65:c.231C>A protEffect p.Val77Val
RISN_RPE65:c.235T>C commonName Tyr 79 His
RISN_RPE65:c.235T>C phenoCommon ARRP
RISN_RPE65:c.235T>C protEffect p.Tyr79His
RISN_RPE65:c.254G>A commonName Arg 85 His
RISN_RPE65:c.254G>A phenoCommon ARRP
RISN_RPE65:c.254G>A protEffect p.Arg85His
RISN_RPE65:c.271C>T commonName Arg 91 Trp
RISN_RPE65:c.271C>T phenoCommon LCA2, ARRP
RISN_RPE65:c.271C>T protEffect p.Arg91Trp
RISN_RPE65:c.271_272insA commonName 272insA
RISN_RPE65:c.272G>A commonName Arg 91 Gln
RISN_RPE65:c.272G>A phenoCommon LCA
RISN_RPE65:c.272G>A protEffect p.Arg91Gln
RISN_RPE65:c.272G>C commonName Arg 91 Pro
RISN_RPE65:c.272G>C protEffect p.Arg91Pro
RISN_RPE65:c.283G>C commonName Glu 95 Gln
RISN_RPE65:c.283G>C phenoCommon ARRP
RISN_RPE65:c.283G>C protEffect p.Glu95Gln
RISN_RPE65:c.290_309del commonName 290del20bp
RISN_RPE65:c.290_309del phenoCommon LCA
RISN_RPE65:c.304G>A commonName Glu 102 Lys
RISN_RPE65:c.304G>A phenoCommon LCA2, ARRP
RISN_RPE65:c.304G>A protEffect p.Glu102Lys
RISN_RPE65:c.304G>T commonName Glu 102 ter
RISN_RPE65:c.304G>T phenoCommon LCA2, ARRP
RISN_RPE65:c.304G>T protEffect p.Glu102X
RISN_RPE65:c.311G>T commonName Gly 104 Val
RISN_RPE65:c.311G>T protEffect p.Gly104Val
RISN_RPE65:c.353+1G>T commonName IVS4+1g>t
RISN_RPE65:c.353+1G>T phenoCommon LCA
RISN_RPE65:c.370C>T commonName Arg 124 ter
RISN_RPE65:c.370C>T phenoCommon LCA
RISN_RPE65:c.370C>T protEffect p.Arg124X
RISN_RPE65:c.394G>A commonName Ala 132 Thr
RISN_RPE65:c.394G>A phenoCommon ARRP
RISN_RPE65:c.394G>A protEffect p.Ala132Thr
RISN_RPE65:c.399T>C commonName Leu 133 Leu
RISN_RPE65:c.399T>C protEffect p.Leu133Leu
RISN_RPE65:c.430T>G commonName Tyr 144 Asp
RISN_RPE65:c.430T>G phenoCommon LCA
RISN_RPE65:c.430T>G protEffect p.Tyr144Asp
RISN_RPE65:c.432C>T commonName Tyr 144 Tyr
RISN_RPE65:c.432C>T protEffect p.Tyr144Tyr
RISN_RPE65:c.444G>T commonName Glu 148 Asp
RISN_RPE65:c.444G>T phenoCommon LCA
RISN_RPE65:c.444G>T protEffect p.Glu148Asp
RISN_RPE65:c.495_495+1insG commonName IVS5+1insg
RISN_RPE65:c.499G>T commonName Asp 167 Tyr
RISN_RPE65:c.499G>T phenoCommon ARRP
RISN_RPE65:c.499G>T protEffect p.Asp167Tyr
RISN_RPE65:c.544C>A commonName His 182 Asn
RISN_RPE65:c.544C>A phenoCommon LCA
RISN_RPE65:c.544C>A protEffect p.His182Asn
RISN_RPE65:c.544C>T commonName His 182 Tyr
RISN_RPE65:c.544C>T phenoCommon LCA
RISN_RPE65:c.544C>T protEffect p.His182Tyr
RISN_RPE65:c.570C>T commonName Tyr 190 Tyr
RISN_RPE65:c.570C>T protEffect p.Tyr190Tyr
RISN_RPE65:c.609C>T commonName Ala 203 Ala
RISN_RPE65:c.609C>T protEffect p.Ala203Ala
RISN_RPE65:c.614A>G commonName Asn 205 Ser
RISN_RPE65:c.614A>G phenoCommon Rare Variant
RISN_RPE65:c.614A>G protEffect p.Asn205Ser
RISN_RPE65:c.615_616delCA commonName 615delCA
RISN_RPE65:c.615_616delCA phenoCommon LCA2, ARRP
RISN_RPE65:c.643+1G>C commonName IVS6+1g>c
RISN_RPE65:c.643+1G>C phenoCommon LCA
RISN_RPE65:c.643+5G>A commonName IVS6+5g>a
RISN_RPE65:c.643+5G>A phenoCommon ARRP
RISN_RPE65:c.644-2A>T commonName IVS6-2a>t
RISN_RPE65:c.644-2A>T phenoCommon LCA
RISN_RPE65:c.644A>G commonName Asp 215 Gly
RISN_RPE65:c.644A>G protEffect p.Asp215Gly
RISN_RPE65:c.644-1G>T commonName IVS6-1g>t
RISN_RPE65:c.644-33G>C commonName IVS6-33g/c
RISN_RPE65:c.644-42delT commonName IVS6-42del t
RISN_RPE65:c.644-43delA commonName IVS6-43del a
RISN_RPE65:c.700C>T commonName Arg 234 ter
RISN_RPE65:c.700C>T phenoCommon LCA
RISN_RPE65:c.700C>T protEffect p.Arg234X
RISN_RPE65:c.715T>G commonName Tyr 239 Asp
RISN_RPE65:c.715T>G phenoCommon LCA
RISN_RPE65:c.715T>G protEffect p.Tyr239Asp
RISN_RPE65:c.725+4A>G commonName IVS7+4a>g
RISN_RPE65:c.725+4A>G phenoCommon ARRP
RISN_RPE65:c.777_784del commonName 777del8bp
RISN_RPE65:c.777_784del phenoCommon LCA
RISN_RPE65:c.858+1G>A commonName IVS8+1g>a
RISN_RPE65:c.858+1G>A phenoCommon LCA
RISN_RPE65:c.858+1G>T commonName IVS8+1g>t
RISN_RPE65:c.858+1G>T phenoCommon LCA
RISN_RPE65:c.858+4A>G commonName IVS8+4a>g
RISN_RPE65:c.858+4A>G phenoCommon LCA
RISN_RPE65:c.859G>T commonName Val 287 Phe
RISN_RPE65:c.859G>T phenoCommon LCA
RISN_RPE65:c.859G>T protEffect p.Val287Phe
RISN_RPE65:c.881A>C commonName Lys 294 Thr
RISN_RPE65:c.881A>C phenoCommon Rare Variant
RISN_RPE65:c.881A>C protEffect p.Lys294Thr
RISN_RPE65:c.889delA commonName 889delA
RISN_RPE65:c.889delA phenoCommon LCA
RISN_RPE65:c.894delG commonName 894delG
RISN_RPE65:c.894delG phenoCommon LCA
RISN_RPE65:c.907A>T commonName Lys 303 ter
RISN_RPE65:c.907A>T phenoCommon LCA
RISN_RPE65:c.907A>T protEffect p.Lys303X
RISN_RPE65:c.952T>A commonName Tyr 318 Asn
RISN_RPE65:c.952T>A protEffect p.Tyr318Asn
RISN_RPE65:c.962dupA commonName 962insA
RISN_RPE65:c.962dupA phenoCommon LCA
RISN_RPE65:c.978G>T commonName Val 326 Val
RISN_RPE65:c.978G>T protEffect p.Val326Val
RISN_RPE65:c.989G>A commonName Cys 330 Tyr
RISN_RPE65:c.989G>A phenoCommon LCA
RISN_RPE65:c.989G>A protEffect p.Cys330Tyr
RISN_RPE65:c.1022T>C commonName Leu 341 Ser
RISN_RPE65:c.1022T>C phenoCommon ARRP
RISN_RPE65:c.1022T>C protEffect p.Leu341Ser
RISN_RPE65:c.1046_1047insTGG commonName 1047insTGG
RISN_RPE65:c.1046_1047insTGG phenoCommon LCA
RISN_RPE65:c.1053A>G commonName Glu 351 Glu
RISN_RPE65:c.1053A>G protEffect p.Glu351Glu
RISN_RPE65:c.1056G>A commonName Glu 352 Glu
RISN_RPE65:c.1056G>A protEffect p.Glu352Glu
RISN_RPE65:c.1060delA commonName 1060delA
RISN_RPE65:c.1060delA phenoCommon LCA
RISN_RPE65:c.1068_1069ins1 commonName 1069ins1bp
RISN_RPE65:c.1068_1069ins1 phenoCommon LCA
RISN_RPE65:c.1078G>C commonName Ala 360 Pro
RISN_RPE65:c.1078G>C protEffect p.Ala360Pro
RISN_RPE65:c.1102T>C commonName Tyr 368 His
RISN_RPE65:c.1102T>C phenoCommon RCD, early onset
RISN_RPE65:c.1102T>C protEffect p.Tyr368His
RISN_RPE65:c.1103A>G commonName Tyr 368 Cys
RISN_RPE65:c.1103A>G protEffect p.Tyr368Cys
RISN_RPE65:c.1120delA commonName 1120delA
RISN_RPE65:c.1120delA phenoCommon LCA
RISN_RPE65:c.1155G>A commonName Thr 385 Thr
RISN_RPE65:c.1155G>A protEffect p.Thr385Thr
RISN_RPE65:c.1178C>G commonName Ala 393 Gly
RISN_RPE65:c.1178C>G phenoCommon LCA
RISN_RPE65:c.1178C>G protEffect p.Ala393Gly
RISN_RPE65:c.1207_1210dupCTGG commonName 1207dupCTGG
RISN_RPE65:c.1207_1210dupCTGG phenoCommon ARRP
RISN_RPE65:c.1208T>C commonName Leu 403 Pro
RISN_RPE65:c.1208T>C protEffect p.Leu403Pro
RISN_RPE65:c.1220T>C commonName Val 407 Ala
RISN_RPE65:c.1220T>C phenoCommon Rare Variant
RISN_RPE65:c.1220T>C protEffect p.Val407Ala
RISN_RPE65:c.1223T>C commonName Leu 408 Pro
RISN_RPE65:c.1223T>C protEffect p.Leu408Pro
RISN_RPE65:c.1249G>C commonName Glu 417 Gln
RISN_RPE65:c.1249G>C phenoCommon LCA
RISN_RPE65:c.1249G>C protEffect p.Glu417Gln
RISN_RPE65:c.1292A>G commonName Tyr 431 Cys
RISN_RPE65:c.1292A>G protEffect p.Tyr431Cys
RISN_RPE65:c.1301C>T commonName Ala 434 Val
RISN_RPE65:c.1301C>T phenoCommon LCA
RISN_RPE65:c.1301C>T protEffect p.Ala434Val
RISN_RPE65:c.1302G>C commonName Ala 434 Ala
RISN_RPE65:c.1302G>C protEffect p.Ala434Ala
RISN_RPE65:c.1304A>G commonName Tyr 435 Cys
RISN_RPE65:c.1304A>G phenoCommon LCA
RISN_RPE65:c.1304A>G protEffect p.Tyr435Cys
RISN_RPE65:c.1307G>T commonName Gly 436 Val
RISN_RPE65:c.1307G>T phenoCommon LCA
RISN_RPE65:c.1307G>T protEffect p.Gly436Val
RISN_RPE65:c.1338+20A>C commonName IVS12+20a/c
RISN_RPE65:c.1350G>T commonName Leu 450 Arg
RISN_RPE65:c.1350G>T phenoCommon LCA
RISN_RPE65:c.1350G>T protEffect p.Leu450Arg
RISN_RPE65:c.1355T>G commonName Val 452 Gly
RISN_RPE65:c.1355T>G phenoCommon ARRP
RISN_RPE65:c.1355T>G protEffect p.Val452Gly
RISN_RPE65:c.1370C>A commonName Thr 457 Asn
RISN_RPE65:c.1370C>A phenoCommon LCA
RISN_RPE65:c.1370C>A protEffect p.Thr457Asn
RISN_RPE65:c.1384G>T commonName Glu 462 ter
RISN_RPE65:c.1384G>T phenoCommon LCA
RISN_RPE65:c.1384G>T protEffect p.Glu462X
RISN_RPE65:c.1418T>A commonName Val 473 Asp
RISN_RPE65:c.1418T>A phenoCommon LCA
RISN_RPE65:c.1418T>A protEffect p.Val473Asp
RISN_RPE65:c.1451G>A commonName Gly 484 Asp
RISN_RPE65:c.1451G>A protEffect p.Gly484Asp
RISN_RPE65:c.1451-22C>T commonName IVS13-22c/t
RISN_RPE65:c.1543C>T commonName Arg 515 Trp
RISN_RPE65:c.1543C>T phenoCommon LCA
RISN_RPE65:c.1543C>T protEffect p.Arg515Trp
RISN_RPE65:c.1559T>C commonName Ile 520 Thr
RISN_RPE65:c.1559T>C protEffect p.Ile520Thr
RISN_RPE65:c.1590delC commonName 1590delC
RISN_AIPL1:c.1053_1064del commonName 1053del12bp
RISN_AIPL1:c.1053_1064del phenoCommon adCRD
RISN_AIPL1:c.97-9G>A commonName IVS1-9g-a
RISN_AIPL1:c.276+66G>C commonName IVS2+66g-c
RISN_AIPL1:c.277-88C>T commonName IVS2-88c-t
RISN_AIPL1:c.277-14G>A commonName IVS2-14g-a
RISN_AIPL1:c.277-10A>C commonName IVS2-10a-c
RISN_AIPL1:c.466-25C>T commonName IVS3-25c-t
RISN_AIPL1:c.466-22T>C commonName IVS3-22t-c
RISN_AIPL1:c.784+18G>A commonName IVS5+18g-a
RISN_AIPL1:c.268G>C commonName Asp 90 His
RISN_AIPL1:c.268G>C phenoCommon Benign Variant
RISN_AIPL1:c.268G>C protEffect p.Asp90His
RISN_AIPL1:c.157C>T commonName Arg 53 Trp
RISN_AIPL1:c.157C>T phenoCommon LCA4
RISN_AIPL1:c.157C>T protEffect p.Arg53Trp
RISN_AIPL1:c.236T>C commonName Met 79 Thr
RISN_AIPL1:c.236T>C phenoCommon LCA4
RISN_AIPL1:c.236T>C protEffect p.Met79Thr
RISN_AIPL1:c.264G>A commonName Trp 88 ter
RISN_AIPL1:c.264G>A phenoCommon LCA4
RISN_AIPL1:c.264G>A protEffect p.Trp88X
RISN_AIPL1:c.277-2A>G commonName IVS2-2a-g
RISN_AIPL1:c.277-2A>G phenoCommon LCA4
RISN_AIPL1:c.286G>A commonName Val 96 Ile
RISN_AIPL1:c.286G>A phenoCommon LCA4
RISN_AIPL1:c.286G>A protEffect p.Val96Ile
RISN_AIPL1:c.341C>T commonName Thr 114 Ile
RISN_AIPL1:c.341C>T phenoCommon LCA4
RISN_AIPL1:c.341C>T protEffect p.Thr114Ile
RISN_AIPL1:c.487C>T commonName Gln163 ter
RISN_AIPL1:c.487C>T phenoCommon LCA4
RISN_AIPL1:c.487C>T protEffect p.Gln163X
RISN_AIPL1:c.589G>C commonName Ala 197 Pro
RISN_AIPL1:c.589G>C phenoCommon LCA4
RISN_AIPL1:c.589G>C protEffect p.Ala197Pro
RISN_AIPL1:c.617T>A commonName Ile 206 Asn
RISN_AIPL1:c.617T>A phenoCommon LCA4
RISN_AIPL1:c.617T>A protEffect p.Ile206Asn
RISN_AIPL1:c.715T>C commonName Cys 239 Arg
RISN_AIPL1:c.715T>C phenoCommon LCA4
RISN_AIPL1:c.715T>C protEffect p.Cys239Arg
RISN_AIPL1:c.784G>A commonName Gly 262 Ser
RISN_AIPL1:c.784G>A phenoCommon LCA4
RISN_AIPL1:c.784G>A protEffect p.Gly262Ser
RISN_AIPL1:c.834G>A commonName Trp 278 ter
RISN_AIPL1:c.834G>A phenoCommon LCA4
RISN_AIPL1:c.834G>A protEffect p.Trp278X
RISN_AIPL1:c.905G>T commonName Arg 302 Leu
RISN_AIPL1:c.905G>T phenoCommon LCA4
RISN_AIPL1:c.905G>T protEffect p.Arg302Leu
RISN_AIPL1:c.1010_1011delAG commonName 1010delAG
RISN_AIPL1:c.1010_1011delAG phenoCommon LCA4
RISN_AIPL1:c.1126C>T commonName Pro 376 Ser
RISN_AIPL1:c.1126C>T phenoCommon LCA4
RISN_AIPL1:c.1126C>T protEffect p.Pro376Ser
RISN_AIPL1:c.111C>T commonName Phe 37 Phe
RISN_AIPL1:c.111C>T protEffect p.Phe37Phe
RISN_AIPL1:c.234C>T commonName Ser 78 Ser
RISN_AIPL1:c.234C>T protEffect p.Ser78Ser
RISN_AIPL1:c.267C>T commonName Cys 89 Cys
RISN_AIPL1:c.267C>T protEffect p.Cys89Cys
RISN_AIPL1:c.516T>C commonName His 172 His
RISN_AIPL1:c.516T>C protEffect p.His172His
RISN_AIPL1:c.651A>G commonName Pro 217 Pro
RISN_AIPL1:c.651A>G protEffect p.Pro217Pro
RISN_AIPL1:c.765T>C commonName Asp 255 Asp
RISN_AIPL1:c.765T>C protEffect p.Asp255Asp
RISN_NYX:c.556_605delins3 commonName 556del50ins3bp
RISN_NYX:c.556_605delins3 phenoCommon CSNB1
RISN_NYX:c.85_108del commonName 85del24bp
RISN_NYX:c.85_108del phenoCommon CSNB1
RISN_NYX:c.92G>C commonName Cys 31 Ser
RISN_NYX:c.92G>C phenoCommon CSNB1
RISN_NYX:c.92G>C protEffect p.Cys31Ser
RISN_NYX:c.105C>A commonName Cys 31 ter
RISN_NYX:c.105C>A phenoCommon CSNB1
RISN_NYX:c.105C>A protEffect p.Cys31X
RISN_NYX:c.340_354del commonName 340del15bp
RISN_NYX:c.340_354del phenoCommon CSNB1
RISN_NYX:c.427G>C commonName Ala 143 Pro
RISN_NYX:c.427G>C phenoCommon CSNB1
RISN_NYX:c.427G>C protEffect p.Ala143Pro
RISN_NYX:c.452C>T commonName Pro 151 Leu
RISN_NYX:c.452C>T phenoCommon CSNB1
RISN_NYX:c.452C>T protEffect p.Pro151Leu
RISN_NYX:c.463_464ins21 commonName 464ins21bp
RISN_NYX:c.463_464ins21 phenoCommon CSNB1
RISN_NYX:c.524C>G commonName Pro 175 Arg
RISN_NYX:c.524C>G phenoCommon CSNB1
RISN_NYX:c.524C>G protEffect p.Pro175Arg
RISN_NYX:c.551T>C commonName Leu 184 Pro
RISN_NYX:c.551T>C phenoCommon CSNB1
RISN_NYX:c.551T>C protEffect p.Leu184Pro
RISN_NYX:c.559_560delinsAA commonName Ala 187 Lys
RISN_NYX:c.559_560delinsAA phenoCommon CSNB1
RISN_NYX:c.559_560delinsAA protEffect p.Ala187Lys
RISN_NYX:c.618_619ins9 commonName 619ins9bp
RISN_NYX:c.618_619ins9 phenoCommon CSNB1
RISN_NYX:c.620_621ins9 commonName 207ins9bp
RISN_NYX:c.620_621ins9 phenoCommon CSNB1
RISN_NYX:c.627_628ins9 commonName 628ins9bp
RISN_NYX:c.627_628ins9 phenoCommon CSNB1
RISN_NYX:c.638T>A commonName Leu 213 Gln
RISN_NYX:c.638T>A phenoCommon CSNB1
RISN_NYX:c.638T>A protEffect p.Leu213Gln
RISN_NYX:c.647A>T commonName Asn 216 Ser
RISN_NYX:c.647A>T phenoCommon CSNB1
RISN_NYX:c.647A>T protEffect p.Asn216Ser
RISN_NYX:c.695T>C commonName Leu 232 Pro
RISN_NYX:c.695T>C phenoCommon CSNB1
RISN_NYX:c.695T>C protEffect p.Leu232Pro
RISN_NYX:c.727_738del commonName 243del12bp
RISN_NYX:c.727_738del phenoCommon CSNB1
RISN_NYX:c.792C>G commonName Asn 264 Lys
RISN_NYX:c.792C>G phenoCommon CSNB1
RISN_NYX:c.792C>G protEffect p.Asn264Lys
RISN_NYX:c.854T>C commonName Leu 285 Pro
RISN_NYX:c.854T>C phenoCommon CSNB1
RISN_NYX:c.854T>C protEffect p.Leu285Pro
RISN_NYX:c.893T>C commonName Phe 298 Ser
RISN_NYX:c.893T>C phenoCommon CSNB1
RISN_NYX:c.893T>C protEffect p.Phe298Ser
RISN_NYX:c.935A>G commonName Asn 321 Ser
RISN_NYX:c.935A>G phenoCommon CSNB1
RISN_NYX:c.935A>G protEffect p.Asn321Ser
RISN_NYX:c.1040T>C commonName Leu 347 Pro
RISN_NYX:c.1040T>C phenoCommon CSNB1
RISN_NYX:c.1040T>C protEffect p.Leu347Pro
RISN_NYX:c.1049G>A commonName Trp 350 ter
RISN_NYX:c.1049G>A phenoCommon CSNB1
RISN_NYX:c.1049G>A protEffect p.Trp350X
RISN_NYX:c.1109G>T commonName Gly 370 Val
RISN_NYX:c.1109G>T phenoCommon CSNB1
RISN_NYX:c.1109G>T protEffect p.Gly370Val
RISN_BBS4:c.157-2A>G commonName IVS3-2A-G
RISN_BBS4:c.157-2A>G phenoCommon BBS4
RISN_BBS4:p.Asn165His commonName Asn 165 His
RISN_BBS4:p.Asn165His phenoCommon BBS4
RISN_BBS4:p.Asn165His protEffect p.Asn165His
RISN_BBS4:p.Ser457Ile commonName Ser 457 Ile
RISN_BBS4:p.Ser457Ile phenoCommon BBS4
RISN_BBS4:p.Ser457Ile protEffect p.Ser457Ile
RISN_BBS4:c.52_195del commonName 53del144bp
RISN_BBS4:c.52_195del phenoCommon BBS4
RISN_BBS4:c.220+1G>C commonName IVS4+1G-C
RISN_BBS4:c.220+1G>C phenoCommon BBS4
RISN_BBS4:c.460-2A>C commonName IVS7-2A-C
RISN_BBS4:c.460-2A>C phenoCommon BBS4
RISN_BBS4:c.584_585insTG commonName 585insTG
RISN_BBS4:c.584_585insTG phenoCommon BBS4
RISN_BBS4:c.884G>C commonName Arg 295 Pro
RISN_BBS4:c.884G>C phenoCommon BBS4
RISN_BBS4:c.884G>C protEffect p.Arg295Pro
RISN_BBS4:c.24+42G>A commonName IVS1+42g/a
RISN_BBS4:c.77-6A>G commonName IVS2-6a/g
RISN_BBS4:c.220+91G>A commonName IVS4+91g/a
RISN_BBS4:c.332+27_332+28insA commonName IVS5+28insA
RISN_BBS4:c.405+17C>T commonName IVS6+17c/t
RISN_BBS4:c.1106+20C>T commonName IVS13+20c/t
RISN_BBS4:c.1450+18C>T commonName IVS15+18c/t
RISN_BBS4:c.1451-45C>T commonName IVS15-45c/t
RISN_BBS4:c.-17C>A commonName -17C/A
RISN_BBS4:c.1061T>C commonName 1061C/T
RISN_BBS4:c.1560*1G>C commonName 1561G/C
RISN_VMD2:c.16A>C commonName Thr 6 Pro
RISN_VMD2:c.16A>C phenoCommon VMD2
RISN_VMD2:c.16A>C protEffect p.Thr6Pro
RISN_VMD2:c.17C>G commonName Thr 6 Arg
RISN_VMD2:c.17C>G phenoCommon VMD2
RISN_VMD2:c.17C>G protEffect p.Thr6Arg
RISN_VMD2:c.25G>A commonName Val 9 Met
RISN_VMD2:c.25G>A phenoCommon VMD2
RISN_VMD2:c.25G>A protEffect p.Val9Met
RISN_VMD2:c.26T>C commonName Val 9 Ala
RISN_VMD2:c.26T>C phenoCommon VMD2
RISN_VMD2:c.26T>C protEffect p.Val9Ala
RISN_VMD2:c.28G>A commonName Ala 10 Thr
RISN_VMD2:c.28G>A phenoCommon VMD2
RISN_VMD2:c.28G>A protEffect p.Ala10Thr
RISN_VMD2:c.29C>T commonName Ala 10 Val
RISN_VMD2:c.29C>T phenoCommon VMD2
RISN_VMD2:c.29C>T protEffect p.Ala10Val
RISN_VMD2:c.32A>T commonName Asn 11 Ile
RISN_VMD2:c.32A>T phenoCommon VMD2
RISN_VMD2:c.32A>T protEffect p.Asn11Ile
RISN_VMD2:c.38G>A commonName Arg 13 His
RISN_VMD2:c.38G>A phenoCommon VMD2
RISN_VMD2:c.38G>A protEffect p.Arg13His
RISN_VMD2:c.47C>T commonName Ser 16 Phe
RISN_VMD2:c.47C>T phenoCommon VMD2
RISN_VMD2:c.47C>T protEffect p.Ser16Phe
RISN_VMD2:c.50T>G commonName Phe 17 Cys
RISN_VMD2:c.50T>G phenoCommon VMD2
RISN_VMD2:c.50T>G protEffect p.Phe17Cys
RISN_VMD2:c.61C>G commonName Leu 21 Val
RISN_VMD2:c.61C>G phenoCommon VMD2
RISN_VMD2:c.61C>G protEffect p.Leu21Val
RISN_VMD2:c.72G>T commonName Trp 24 Cys
RISN_VMD2:c.72G>T phenoCommon VMD2
RISN_VMD2:c.72G>T protEffect p.Trp24Cys
RISN_VMD2:c.73C>T commonName Arg 25 Trp
RISN_VMD2:c.73C>T phenoCommon VMD2
RISN_VMD2:c.73C>T protEffect p.Arg25Trp
RISN_VMD2:c.74G>A commonName Arg 25 Gln
RISN_VMD2:c.74G>A phenoCommon VMD2
RISN_VMD2:c.74G>A protEffect p.Arg25Gln
RISN_VMD2:c.81C>G commonName Ser 27 Arg
RISN_VMD2:c.81C>G phenoCommon VMD2
RISN_VMD2:c.81C>G protEffect p.Ser27Arg
RISN_VMD2:c.85T>C commonName Tyr 29 His
RISN_VMD2:c.85T>C phenoCommon VMD2
RISN_VMD2:c.85T>C protEffect p.Tyr29His
RISN_VMD2:c.89A>G commonName Lys 30 Arg
RISN_VMD2:c.89A>G phenoCommon VMD2
RISN_VMD2:c.89A>G protEffect p.Lys30Arg
RISN_VMD2:c.122T>C commonName Leu 41 Pro
RISN_VMD2:c.122T>C phenoCommon VMD2
RISN_VMD2:c.122T>C protEffect p.Leu41Pro
RISN_VMD2:c.176A>T commonName Gln 58 Leu
RISN_VMD2:c.176A>T phenoCommon VMD2
RISN_VMD2:c.176A>T protEffect p.Gln58Leu
RISN_VMD2:c.217A>C commonName Ile 73 Val
RISN_VMD2:c.217A>C phenoCommon VMD2
RISN_VMD2:c.217A>C protEffect p.Ile73Val
RISN_VMD2:c.240C>A commonName Phe 80 Leu
RISN_VMD2:c.240C>A phenoCommon VMD2
RISN_VMD2:c.240C>A protEffect p.Phe80Leu
RISN_VMD2:c.243G>C commonName Leu 82 Val
RISN_VMD2:c.243G>C phenoCommon VMD2
RISN_VMD2:c.243G>C protEffect p.Leu82Val
RISN_VMD2:c.253T>C commonName Tyr 85 His
RISN_VMD2:c.253T>C phenoCommon VMD2
RISN_VMD2:c.253T>C protEffect p.Tyr85His
RISN_VMD2:c.272C>T commonName Thr 91 Ile
RISN_VMD2:c.272C>T phenoCommon VMD2
RISN_VMD2:c.272C>T protEffect p.Thr91Ile
RISN_VMD2:c.274C>T commonName Arg 92 Cys
RISN_VMD2:c.274C>T phenoCommon VMD2
RISN_VMD2:c.274C>T protEffect p.Arg92Cys
RISN_VMD2:c.274C>A commonName Arg 92 Ser
RISN_VMD2:c.274C>A phenoCommon VMD2
RISN_VMD2:c.274C>A protEffect p.Arg92Ser
RISN_VMD2:c.275G>A commonName Arg 92 His
RISN_VMD2:c.275G>A phenoCommon VMD2
RISN_VMD2:c.275G>A protEffect p.Arg92His
RISN_VMD2:c.279G>C commonName Trp 93 Cys
RISN_VMD2:c.279G>C phenoCommon VMD2
RISN_VMD2:c.279G>C protEffect p.Trp93Cys
RISN_VMD2:c.288G>C commonName Gln 96 His
RISN_VMD2:c.288G>C phenoCommon VMD2
RISN_VMD2:c.288G>C protEffect p.Gln96His
RISN_VMD2:c.297C>A commonName Asn 99 Lys
RISN_VMD2:c.297C>A phenoCommon VMD2
RISN_VMD2:c.297C>A protEffect p.Asn99Lys
RISN_VMD2:c.299T>G commonName Leu 100 Arg
RISN_VMD2:c.299T>G phenoCommon VMD2
RISN_VMD2:c.299T>G protEffect p.Leu100Arg
RISN_VMD2:c.301C>A commonName Pro 101 Thr
RISN_VMD2:c.301C>A phenoCommon VMD2
RISN_VMD2:c.301C>A protEffect p.Pro101Thr
RISN_VMD2:c.304T>C commonName Trp 102 Arg
RISN_VMD2:c.304T>C phenoCommon VMD2
RISN_VMD2:c.304T>C protEffect p.Trp102Arg
RISN_VMD2:c.310G>C commonName Asp 104 His
RISN_VMD2:c.310G>C phenoCommon VMD2
RISN_VMD2:c.310G>C protEffect p.Asp104His
RISN_VMD2:c.312C>A commonName Asp 104 Glu
RISN_VMD2:c.312C>A phenoCommon VMD2
RISN_VMD2:c.312C>A protEffect p.Asp104Glu
RISN_VMD2:c.399C>G commonName Asn 133 Lys
RISN_VMD2:c.399C>G phenoCommon VMD2
RISN_VMD2:c.399C>G protEffect p.Asn133Lys
RISN_VMD2:c.403G>A commonName Gly 135 Ser
RISN_VMD2:c.403G>A phenoCommon VMD2
RISN_VMD2:c.403G>A protEffect p.Gly135Ser
RISN_VMD2:c.419T>G commonName Leu 140 Arg
RISN_VMD2:c.419T>G phenoCommon VMD2
RISN_VMD2:c.419T>G protEffect p.Leu140Arg
RISN_VMD2:c.421C>A commonName Arg 141 Ser
RISN_VMD2:c.421C>A phenoCommon VMD2
RISN_VMD2:c.421C>A protEffect p.Arg141Ser
RISN_VMD2:c.422G>A commonName Arg 141 His
RISN_VMD2:c.422G>A phenoCommon VMD2
RISN_VMD2:c.422G>A protEffect p.Arg141His
RISN_VMD2:c.584C>T commonName Ala 195 Val
RISN_VMD2:c.584C>T phenoCommon VMD2
RISN_VMD2:c.584C>T protEffect p.Ala195Val
RISN_VMD2:c.602T>C commonName Ile 201 Thr
RISN_VMD2:c.602T>C phenoCommon VMD2
RISN_VMD2:c.602T>C protEffect p.Ile201Thr
RISN_VMD2:c.619C>A commonName Leu 207 Ile
RISN_VMD2:c.619C>A phenoCommon VMD2
RISN_VMD2:c.619C>A protEffect p.Leu207Ile
RISN_VMD2:c.626G>A commonName Ser 209 Asn
RISN_VMD2:c.626G>A phenoCommon VMD2
RISN_VMD2:c.626G>A protEffect p.Ser209Asn
RISN_VMD2:c.636+1G>C commonName IVS5+1g-c
RISN_VMD2:c.636+1G>C phenoCommon VMD2
RISN_VMD2:c.652C>A commonName Arg 218 Ser
RISN_VMD2:c.652C>A phenoCommon VMD2
RISN_VMD2:c.652C>A protEffect p.Arg218Ser
RISN_VMD2:c.652C>T commonName Arg 218 Cys
RISN_VMD2:c.652C>T phenoCommon VMD2
RISN_VMD2:c.652C>T protEffect p.Arg218Cys
RISN_VMD2:c.653G>A commonName Arg 218 His
RISN_VMD2:c.653G>A phenoCommon VMD2
RISN_VMD2:c.653G>A protEffect p.Arg218His
RISN_VMD2:c.663T>G commonName Cys 221 Trp
RISN_VMD2:c.663T>G phenoCommon VMD2
RISN_VMD2:c.663T>G protEffect p.Cys221Trp
RISN_VMD2:c.665G>T commonName Gly 222 Val
RISN_VMD2:c.665G>T phenoCommon VMD2
RISN_VMD2:c.665G>T protEffect p.Gly222Val
RISN_VMD2:c.670C>A commonName Leu 224 Met
RISN_VMD2:c.670C>A phenoCommon VMD2
RISN_VMD2:c.670C>A protEffect p.Leu224Met
RISN_VMD2:c.671T>C commonName Leu 224 Pro
RISN_VMD2:c.671T>C phenoCommon VMD2
RISN_VMD2:c.671T>C protEffect p.Leu224Pro
RISN_VMD2:c.679T>A commonName Tyr 227 Asn
RISN_VMD2:c.679T>A phenoCommon VMD2
RISN_VMD2:c.679T>A protEffect p.Tyr227Asn
RISN_VMD2:c.680A>G commonName Tyr 227 Cys
RISN_VMD2:c.680A>G phenoCommon VMD2
RISN_VMD2:c.680A>G protEffect p.Tyr227Cys
RISN_VMD2:c.693T>G commonName Ser 231 Arg
RISN_VMD2:c.693T>G phenoCommon VMD2
RISN_VMD2:c.693T>G protEffect p.Ser231Arg
RISN_VMD2:c.703G>C commonName Val 235 Leu
RISN_VMD2:c.703G>C phenoCommon VMD2
RISN_VMD2:c.703G>C protEffect p.Val235Leu
RISN_VMD2:c.703G>A commonName Val 235 Met
RISN_VMD2:c.703G>A phenoCommon VMD2
RISN_VMD2:c.703G>A protEffect p.Val235Met
RISN_VMD2:c.710C>G commonName Thr 237 Arg
RISN_VMD2:c.710C>G phenoCommon VMD2
RISN_VMD2:c.710C>G protEffect p.Thr237Arg
RISN_VMD2:c.722C>A commonName Thr 241 Asn
RISN_VMD2:c.722C>A phenoCommon VMD2
RISN_VMD2:c.722C>A protEffect p.Thr241Asn
RISN_VMD2:c.727G>A commonName Ala 243 Thr
RISN_VMD2:c.727G>A phenoCommon VMD2
RISN_VMD2:c.727G>A protEffect p.Ala243Thr
RISN_VMD2:c.728C>T commonName Ala 243 Val
RISN_VMD2:c.728C>T phenoCommon VMD2
RISN_VMD2:c.728C>T protEffect p.Ala243Val
RISN_VMD2:c.828C>G commonName Phe 276 Leu
RISN_VMD2:c.828C>G phenoCommon VMD2
RISN_VMD2:c.828C>G protEffect p.Phe276Leu
RISN_VMD2:c.841_843delTTC commonName 929delTTC
RISN_VMD2:c.841_843delTTC phenoCommon VMD2
RISN_VMD2:c.877C>A commonName Gln 293 Lys
RISN_VMD2:c.877C>A phenoCommon VMD2
RISN_VMD2:c.877C>A protEffect p.Gln293Lys
RISN_VMD2:c.880C>G commonName Leu 294 Val
RISN_VMD2:c.880C>G phenoCommon VMD2
RISN_VMD2:c.880C>G protEffect p.Leu294Val
RISN_VMD2:c.881_883delTCA commonName 969delTCA
RISN_VMD2:c.881_883delTCA phenoCommon VMD2
RISN_VMD2:c.884T>C commonName Ile 295 Thr
RISN_VMD2:c.884T>C phenoCommon VMD2
RISN_VMD2:c.884T>C protEffect p.Ile295Thr
RISN_VMD2:c.886A>C commonName Asn 296 His
RISN_VMD2:c.886A>C phenoCommon VMD2
RISN_VMD2:c.886A>C protEffect p.Asn296His
RISN_VMD2:c.887A>G commonName Asn 296 Ser
RISN_VMD2:c.887A>G phenoCommon VMD2
RISN_VMD2:c.887A>G protEffect p.Asn296Ser
RISN_VMD2:c.889C>G commonName Pro 297 Ala
RISN_VMD2:c.889C>G phenoCommon VMD2
RISN_VMD2:c.889C>G protEffect p.Pro297Ala
RISN_VMD2:c.891C>T commonName Pro 297 Ser
RISN_VMD2:c.891C>T phenoCommon VMD2
RISN_VMD2:c.891C>T protEffect p.Pro297Ser
RISN_VMD2:c.893T>C commonName Phe 298 Ser
RISN_VMD2:c.893T>C phenoCommon VMD2
RISN_VMD2:c.893T>C protEffect p.Phe298Ser
RISN_VMD2:c.896G>A commonName Gly 299 Glu
RISN_VMD2:c.896G>A phenoCommon VMD2
RISN_VMD2:c.896G>A protEffect p.Gly299Glu
RISN_VMD2:c.898G>A commonName Glu 300 Lys
RISN_VMD2:c.898G>A phenoCommon VMD2
RISN_VMD2:c.898G>A protEffect p.Glu300Lys
RISN_VMD2:c.900G>C commonName Glu 300 Asp
RISN_VMD2:c.900G>C phenoCommon VMD2
RISN_VMD2:c.900G>C protEffect p.Glu300Asp
RISN_VMD2:c.901G>A commonName Asp 301 Asn
RISN_VMD2:c.901G>A phenoCommon VMD2
RISN_VMD2:c.901G>A protEffect p.Asp301Asn
RISN_VMD2:c.901_903delGAT commonName 989delGAT
RISN_VMD2:c.901_903delGAT phenoCommon VMD2
RISN_VMD2:c.903T>G commonName Asp 301 Glu
RISN_VMD2:c.903T>G phenoCommon VMD2
RISN_VMD2:c.903T>G protEffect p.Asp301Glu
RISN_VMD2:c.904G>C commonName Asp 302 His
RISN_VMD2:c.904G>C phenoCommon VMD2
RISN_VMD2:c.904G>C protEffect p.Asp302His
RISN_VMD2:c.905A>T commonName Asp 302 Val
RISN_VMD2:c.905A>T phenoCommon VMD2
RISN_VMD2:c.905A>T protEffect p.Asp302Val
RISN_VMD2:c.905A>G commonName Asp 302 Gly
RISN_VMD2:c.905A>G phenoCommon VMD2
RISN_VMD2:c.905A>G protEffect p.Asp302Gly
RISN_VMD2:c.909T>A commonName Asp 303 Glu
RISN_VMD2:c.909T>A phenoCommon VMD2
RISN_VMD2:c.909T>A protEffect p.Asp303Glu
RISN_VMD2:c.914T>C commonName Phe 305 Ser
RISN_VMD2:c.914T>C phenoCommon VMD2
RISN_VMD2:c.914T>C protEffect p.Phe305Ser
RISN_VMD2:c.917A>G commonName Glu 306 Gly
RISN_VMD2:c.917A>G phenoCommon VMD2
RISN_VMD2:c.917A>G protEffect p.Glu306Gly
RISN_VMD2:c.918G>C commonName Glu 306 Asp
RISN_VMD2:c.918G>C phenoCommon VMD2
RISN_VMD2:c.918G>C protEffect p.Glu306Asp
RISN_VMD2:c.919A>G commonName Thr 307 Ala
RISN_VMD2:c.919A>G phenoCommon VMD2
RISN_VMD2:c.919A>G protEffect p.Thr307Ala
RISN_VMD2:c.920C>T commonName Thr 307 Ile
RISN_VMD2:c.920C>T phenoCommon VMD2
RISN_VMD2:c.920C>T protEffect p.Thr307Ile
RISN_VMD2:c.923A>G commonName Asn 308 His
RISN_VMD2:c.923A>G phenoCommon VMD2
RISN_VMD2:c.923A>G protEffect p.Asn308His
RISN_VMD2:c.929T>C commonName Ile 310 Thr
RISN_VMD2:c.929T>C phenoCommon VMD2
RISN_VMD2:c.929T>C protEffect p.Ile310Thr
RISN_VMD2:c.1468_1469delCA commonName 1556delCA
RISN_VMD2:c.1468_1469delCA phenoCommon VMD2
RISN_VMD2:c.313C>T commonName Arg 105 Cys
RISN_VMD2:c.313C>T phenoCommon AMD
RISN_VMD2:c.313C>T protEffect p.Arg105Cys
RISN_VMD2:c.355G>C commonName Glu 119 Gln
RISN_VMD2:c.355G>C phenoCommon AMD
RISN_VMD2:c.355G>C protEffect p.Glu119Gln
RISN_VMD2:c.445A>T commonName Lys 149 ter
RISN_VMD2:c.445A>T phenoCommon AMD
RISN_VMD2:c.445A>T protEffect p.Lys149X
RISN_VMD2:c.647C>T commonName Thr 216 Ile
RISN_VMD2:c.647C>T phenoCommon AMD
RISN_VMD2:c.647C>T protEffect p.Thr216Ile
RISN_VMD2:c.823G>A commonName Val 275 Ile
RISN_VMD2:c.823G>A phenoCommon AMD
RISN_VMD2:c.823G>A protEffect p.Val275Ile
RISN_VMD2:c.1699C>T commonName Leu 567 Phe
RISN_VMD2:c.1699C>T phenoCommon AMD
RISN_VMD2:c.1699C>T protEffect p.Leu567Phe
RISN_VMD2:c.140G>A commonName Arg 47 His
RISN_VMD2:c.140G>A phenoCommon AVMD
RISN_VMD2:c.140G>A protEffect p.Arg47His
RISN_VMD2:c.436_437delinsAA commonName Ala 146 Lys
RISN_VMD2:c.436_437delinsAA phenoCommon AVMD
RISN_VMD2:c.436_437delinsAA protEffect p.Ala146Lys
RISN_VMD2:c.934G>A commonName Asp 312 Asn
RISN_VMD2:c.934G>A phenoCommon AVMD
RISN_VMD2:c.934G>A protEffect p.Asp312Asn
RISN_VMD2:c.933C>T commonName Val 311 Val
RISN_VMD2:c.933C>T phenoCommon Polymoprhism
RISN_VMD2:c.933C>T protEffect p.Val311Val
RISN_VMD2:c.33T>C commonName 33C/T
RISN_VMD2:c.87C>T commonName Tyr 29 Tyr
RISN_VMD2:c.87C>T protEffect p.Tyr29Tyr
RISN_VMD2:c.109T>C commonName Leu 37 Leu
RISN_VMD2:c.109T>C protEffect p.Leu37Leu
RISN_VMD2:c.165G>A commonName Thr 55 Thr
RISN_VMD2:c.165G>A protEffect p.Thr55Thr
RISN_VMD2:c.201G>C commonName Leu 67 Leu
RISN_VMD2:c.201G>C protEffect p.Leu67Leu
RISN_VMD2:c.219C>A commonName Ile 73 Ile
RISN_VMD2:c.219C>A protEffect p.Ile73Ile
RISN_VMD2:c.222G>A commonName Gln 74 Gln
RISN_VMD2:c.222G>A protEffect p.Gln74Gln
RISN_VMD2:c.248-12C>T commonName IVS3-12c/t
RISN_VMD2:c.248-32C>T commonName IVS3-32c/t
RISN_VMD2:c.248-17C>T commonName IVS3-17c/t
RISN_VMD2:c.248-26C>T commonName IVS3-26c/t
RISN_VMD2:c.482-24C>T commonName IVS4-24c/t
RISN_VMD2:c.624G>A commonName Gln 208 Gln
RISN_VMD2:c.624G>A protEffect p.Gln208Gln
RISN_VMD2:c.637-6C>T commonName IVS5-6c/t
RISN_VMD2:c.654T>C commonName Arg 218 Arg
RISN_VMD2:c.654T>C protEffect p.Arg218Arg
RISN_VMD2:c.696C>A commonName Ile 232 Ile
RISN_VMD2:c.696C>A protEffect p.Ile232Ile
RISN_VMD2:c.715-27TCC[5] commonName IVS6-27del(TCC)3
RISN_VMD2:c.715-26_715-27insTCC commonName IVS6-27insTCC
RISN_VMD2:c.715-27TCC[6] commonName IVS6-27del(TCC)2
RISN_VMD2:c.720G>C commonName Val 240 Val
RISN_VMD2:c.720G>C protEffect p.Val240Val
RISN_VMD2:c.949-21delT commonName IVS8-21del t
RISN_VMD2:c.1023C>T commonName Pro 341 Pro
RISN_VMD2:c.1023C>T protEffect p.Pro341Pro
RISN_VMD2:c.1026G>A commonName Glu 342 Glu
RISN_VMD2:c.1026G>A protEffect p.Glu342Glu
RISN_VMD2:c.1410A>G commonName Thr 470 Thr
RISN_VMD2:c.1410A>G protEffect p.Thr470Thr
RISN_VMD2:c.1557C>T commonName Ser 519 Ser
RISN_VMD2:c.1557C>T protEffect p.Ser519Ser
RISN_VMD2:c.1574A>C commonName Glu 525 Ala
RISN_VMD2:c.1574A>C protEffect p.Glu525Ala
RISN_VMD2:c.1608T>C commonName Thr 536 Thr
RISN_VMD2:c.1608T>C protEffect p.Thr536Thr
RISN_VMD2:c.1669G>A commonName Glu 557 Lys
RISN_VMD2:c.1669G>A protEffect p.Glu557Lys
RISN_VMD2:c.1681A>G commonName Thr 561 Ala
RISN_VMD2:c.1681A>G protEffect p.Thr561Ala
RISN_VMD2:c.1740-27T>C commonName IVS10-27t/c
RISN_VMD2:c.1846_1847insG commonName 1935ins g
RISN_BBS2:c.507+1G>C commonName IVS4+1G-C
RISN_BBS2:c.507+1G>C phenoCommon BBS2
RISN_BBS2:p.Tyr24X commonName Tyr 24 ter
RISN_BBS2:p.Tyr24X phenoCommon BBS2
RISN_BBS2:p.Tyr24X protEffect p.Tyr24X
RISN_BBS2:p.Arg643Pro commonName Arg 643 Pro
RISN_BBS2:p.Arg643Pro phenoCommon BBS2
RISN_BBS2:p.Arg643Pro protEffect p.Arg643Pro
RISN_BBS2:c.224T>G commonName Val 75 Gly
RISN_BBS2:c.224T>G phenoCommon BBS2
RISN_BBS2:c.224T>G protEffect p.Val75Gly
RISN_BBS2:c.814C>T commonName Arg 272 ter
RISN_BBS2:c.814C>T phenoCommon BBS2
RISN_BBS2:c.814C>T protEffect p.Arg272X
RISN_BBS2:c.823C>T commonName Arg 275 ter
RISN_BBS2:c.823C>T phenoCommon BBS2
RISN_BBS2:c.823C>T protEffect p.Arg275X
RISN_BBS2:c.940delA commonName 940delA
RISN_BBS2:c.940delA phenoCommon BBS2
RISN_BBS2:c.1206dupA commonName 1206insA
RISN_BBS2:c.1206dupA phenoCommon BBS2
RISN_BBS2:c.1413A>C commonName Val 471 Val
RISN_BBS2:c.1413A>C protEffect p.Val471Val
RISN_CEP290:c.21G>T commonName Trp 7 Cys
RISN_CEP290:c.21G>T phenoCommon JBTS
RISN_CEP290:c.21G>T protEffect p.Trp7Cys
RISN_CEP290:c.3175dupA commonName 3175insA
RISN_CEP290:c.3175dupA phenoCommon JBTS
RISN_CEP290:c.3176dupT commonName 3176insT
RISN_CEP290:c.3176dupT phenoCommon JBTS
RISN_CEP290:c.4656delA commonName 4656delA
RISN_CEP290:c.4656delA phenoCommon JBTS
RISN_CEP290:c.4732G>T commonName Glu 1578 ter
RISN_CEP290:c.4732G>T phenoCommon JBTS
RISN_CEP290:c.4732G>T protEffect p.Glu1578X
RISN_CEP290:c.4771C>T commonName Gln 1597 ter
RISN_CEP290:c.4771C>T phenoCommon JBTS
RISN_CEP290:c.4771C>T protEffect p.Gln1597X
RISN_CEP290:c.5424T>C commonName Gln 1942 ter
RISN_CEP290:c.5424T>C phenoCommon JBTS
RISN_CEP290:c.5424T>C protEffect p.Gln1942X
RISN_CEP290:c.5515_5518delGAGA commonName 5515delGAGA
RISN_CEP290:c.5515_5518delGAGA phenoCommon JBTS
RISN_CEP290:c.5649dupA commonName 5649insA
RISN_CEP290:c.5649dupA phenoCommon JBTS
RISN_CEP290:c.5668G>T commonName Gly 1890 ter
RISN_CEP290:c.5668G>T phenoCommon JBTS
RISN_CEP290:c.5668G>T protEffect p.Gly1890X
RISN_CEP290:c.6331C>T commonName Gln 2111 ter
RISN_CEP290:c.6331C>T phenoCommon JBTS
RISN_CEP290:c.6331C>T protEffect p.Gln2111X
RISN_CEP290:c.7341dupA commonName 7341insA
RISN_CEP290:c.7341dupA phenoCommon JBTS
RISN_CEP290:c.181-1G>T commonName IVS3-1g>t
RISN_CEP290:c.181-1G>T phenoCommon LCA10
RISN_CEP290:c.265dupA commonName 265insA
RISN_CEP290:c.265dupA phenoCommon LCA10
RISN_CEP290:c.679_680delGA commonName 679delGA
RISN_CEP290:c.679_680delGA phenoCommon LCA10
RISN_CEP290:c.1550delT commonName 1550delT
RISN_CEP290:c.1550delT phenoCommon LCA10
RISN_CEP290:c.2118_2122dupTCAGC commonName 2118dupTCAGC
RISN_CEP290:c.2118_2122dupTCAGC phenoCommon LCA10
RISN_CEP290:c.2991+1655A>G commonName IVS26+1655a>g
RISN_CEP290:c.2991+1655A>G phenoCommon LCA10
RISN_CEP290:c.3814C>T commonName Arg 1272 ter
RISN_CEP290:c.3814C>T phenoCommon LCA10
RISN_CEP290:c.3814C>T protEffect p.Arg1272X
RISN_CEP290:c.4115_4116delTA commonName 4115delTA
RISN_CEP290:c.4115_4116delTA phenoCommon LCA10
RISN_CEP290:c.4966G>T commonName Glu 1656 ter
RISN_CEP290:c.4966G>T phenoCommon LCA10
RISN_CEP290:c.4966G>T protEffect p.Glu1656X
RISN_CEP290:c.5813_5817delCTTTA commonName 5813delCTTTA
RISN_CEP290:c.5813_5817delCTTTA phenoCommon LCA10
RISN_CEP290:c.2055T>C commonName Ala 685 Ala
RISN_CEP290:c.2055T>C protEffect p.Ala685Ala
RISN_CEP290:c.2218-4_2222del commonName IVS21-4del9bp
RISN_CEP290:c.2218-4_2222del phenoCommon SLSN
RISN_RDH5:c.103G>A commonName Gly 35 Ser
RISN_RDH5:c.103G>A phenoCommon Fundus albipunctatus
RISN_RDH5:c.103G>A protEffect p.Gly35Ser
RISN_RDH5:c.128delT commonName 128delT
RISN_RDH5:c.128delT phenoCommon Fundus albipunctatus
RISN_RDH5:c.215_216insGTGG commonName 216insGTGG
RISN_RDH5:c.215_216insGTGG phenoCommon Fundus albipunctatus
RISN_RDH5:c.218C>T commonName Ser 73 Phe
RISN_RDH5:c.218C>T phenoCommon Fundus albipunctatus
RISN_RDH5:c.218C>T protEffect p.Ser73Phe
RISN_RDH5:c.319G>C commonName Gly 107 Arg
RISN_RDH5:c.319G>C phenoCommon Fundus albipunctatus
RISN_RDH5:c.319G>C protEffect p.Gly107Arg
RISN_RDH5:c.394G>A commonName Val 132 Met
RISN_RDH5:c.394G>A phenoCommon Fundus albipunctatus
RISN_RDH5:c.394G>A protEffect p.Val132Met
RISN_RDH5:c.468C>T commonName Arg 157 Trp
RISN_RDH5:c.468C>T phenoCommon Fundus albipunctatus
RISN_RDH5:c.468C>T protEffect p.Arg157Trp
RISN_RDH5:c.501C>G commonName Cys 267 Trp
RISN_RDH5:c.501C>G phenoCommon Fundus albipunctatus
RISN_RDH5:c.501C>G protEffect p.Cys267Trp
RISN_RDH5:c.530T>G commonName Val 177 Gly
RISN_RDH5:c.530T>G phenoCommon Fundus albipunctatus
RISN_RDH5:c.530T>G protEffect p.Val177Gly
RISN_RDH5:c.712G>T commonName Gly 238 Trp
RISN_RDH5:c.712G>T phenoCommon Fundus albipunctatus
RISN_RDH5:c.712G>T protEffect p.Gly238Trp
RISN_RDH5:c.712dupG commonName 712insG
RISN_RDH5:c.712dupG phenoCommon Fundus albipunctatus
RISN_RDH5:c.839G>A commonName Arg 280 His
RISN_RDH5:c.839G>A phenoCommon Fundus albipunctatus
RISN_RDH5:c.839G>A protEffect p.Arg280His
RISN_RDH5:c.841T>C commonName Tyr 281 His
RISN_RDH5:c.841T>C phenoCommon Fundus albipunctatus
RISN_RDH5:c.841T>C protEffect p.Tyr281His
RISN_RDH5:c.880G>C commonName Ala 294 Pro
RISN_RDH5:c.880G>C phenoCommon Fundus albipunctatus
RISN_RDH5:c.880G>C protEffect p.Ala294Pro
RISN_RDH5:c.928_928delinsGAAG commonName 928delCinsGAAG
RISN_RDH5:c.928_928delinsGAAG phenoCommon Fundus albipunctatus
RISN_RDH5:c.97A>G commonName Ile 33 Val
RISN_RDH5:c.97A>G protEffect p.Ile33Val
RISN_RDH5:c.423C>T commonName Ser 141 Ser
RISN_RDH5:c.423C>T protEffect p.Ser141Ser
RISN_RDH5:p.Val200Val commonName Val 200 Val
RISN_RDH5:p.Val200Val protEffect p.Val200Val
RISN_GRM6:c.19G>A commonName Ala 7 Thr
RISN_GRM6:c.19G>A protEffect p.Ala7Thr
RISN_GRM6:c.57_75dup commonName 57_75dup19bp
RISN_GRM6:c.57_75dup phenoCommon CSNB
RISN_GRM6:c.83G>A commonName Arg 28 His
RISN_GRM6:c.83G>A protEffect p.Arg28His
RISN_GRM6:c.137C>T commonName Pro 46 Leu
RISN_GRM6:c.137C>T phenoCommon CSNB
RISN_GRM6:c.137C>T protEffect p.Pro46Leu
RISN_GRM6:c.172G>C commonName Gly 58 Arg
RISN_GRM6:c.172G>C phenoCommon CSNB
RISN_GRM6:c.172G>C protEffect p.Gly58Arg
RISN_GRM6:c.176A>C commonName Pro 59 Gln
RISN_GRM6:c.176A>C protEffect p.Pro59Gln
RISN_GRM6:c.261C>T commonName Pro 87 Pro
RISN_GRM6:c.261C>T protEffect p.Pro87Pro
RISN_GRM6:c.336C>T commonName Phe 112 Phe
RISN_GRM6:c.336C>T protEffect p.Phe112Phe
RISN_GRM6:c.352C>A commonName Arg 118 Ser
RISN_GRM6:c.352C>A protEffect p.Arg118Ser
RISN_GRM6:c.448G>A commonName Gly 150 Ser
RISN_GRM6:c.448G>A phenoCommon CSNB
RISN_GRM6:c.448G>A protEffect p.Gly150Ser
RISN_GRM6:c.504+66A>C commonName IVS1+66a>c
RISN_GRM6:c.664G>A commonName Glu 222 Lys
RISN_GRM6:c.664G>A protEffect p.Glu222Lys
RISN_GRM6:c.686G>A commonName Gly 229 Glu
RISN_GRM6:c.686G>A protEffect p.Gly229Glu
RISN_GRM6:c.721+83G>T commonName IVS2+83g>t
RISN_GRM6:c.727G>T commonName Val 243 Phe
RISN_GRM6:c.727G>T protEffect p.Val243Phe
RISN_GRM6:c.727_728insG commonName 728insG
RISN_GRM6:c.727_728insG phenoCommon CSNB
RISN_GRM6:c.733A>G commonName Ile 245 Val
RISN_GRM6:c.733A>G protEffect p.Ile245Val
RISN_GRM6:c.1131C>T commonName Asp 377 Asp
RISN_GRM6:c.1131C>T protEffect p.Asp377Asp
RISN_GRM6:c.1153+52_1153+53ins9 commonName IVS5+53ins9bp
RISN_GRM6:c.1227C>T commonName Tyr 409 Tyr
RISN_GRM6:c.1227C>T protEffect p.Tyr409Tyr
RISN_GRM6:c.1353T>C commonName Asn 451 Asn
RISN_GRM6:c.1353T>C protEffect p.Asn451Asn
RISN_GRM6:c.1392A>G commonName Gly 464 Gly
RISN_GRM6:c.1392A>G protEffect p.Gly464Gly
RISN_GRM6:c.1500+23A>G commonName IVS7+23g>a
RISN_GRM6:c.1565G>A commonName Cys 522 Tyr
RISN_GRM6:c.1565G>A phenoCommon CSNB
RISN_GRM6:c.1565G>A protEffect p.Cys522Tyr
RISN_GRM6:c.1566C>T commonName Cys 522 Cys
RISN_GRM6:c.1566C>T protEffect p.Cys522Cys
RISN_GRM6:c.1732C>T commonName Arg 578 Cys
RISN_GRM6:c.1732C>T protEffect p.Arg578Cys
RISN_GRM6:c.1748C>T commonName Ser 583 Phe
RISN_GRM6:c.1748C>T protEffect p.Ser583Phe
RISN_GRM6:c.1766C>T commonName Pro 589 Leu
RISN_GRM6:c.1766C>T protEffect p.Pro589Leu
RISN_GRM6:c.1848C>T commonName Val 616 Val
RISN_GRM6:c.1848C>T protEffect p.Val616Val
RISN_GRM6:c.1861C>T commonName Arg 621 ter
RISN_GRM6:c.1861C>T phenoCommon CSNB
RISN_GRM6:c.1861C>T protEffect p.Arg621X
RISN_GRM6:c.1875C>T commonName Tyr 625 Tyr
RISN_GRM6:c.1875C>T protEffect p.Tyr625Tyr
RISN_GRM6:c.1887C>T commonName Thr 629 Thr
RISN_GRM6:c.1887C>T protEffect p.Thr629Thr
RISN_GRM6:c.1944G>T commonName Ala 648 Ala
RISN_GRM6:c.1944G>T protEffect p.Ala648Ala
RISN_GRM6:c.1953C>T commonName Ala 651 Ala
RISN_GRM6:c.1953C>T protEffect p.Ala651Ala
RISN_GRM6:c.1956C>T commonName Ala 652 Ala
RISN_GRM6:c.1956C>T protEffect p.Ala652Ala
RISN_GRM6:c.1958G>A commonName Arg 653 His
RISN_GRM6:c.1958G>A protEffect p.Arg653His
RISN_GRM6:c.2092C>G commonName Leu 698 Val
RISN_GRM6:c.2092C>G protEffect p.Leu698Val
RISN_GRM6:c.2122C>T commonName Gln 708 ter
RISN_GRM6:c.2122C>T phenoCommon CSNB
RISN_GRM6:c.2122C>T protEffect p.Gln708X
RISN_GRM6:c.2134A>G commonName Met 712 Val
RISN_GRM6:c.2134A>G protEffect p.Met712Val
RISN_GRM6:c.2196G>A commonName Thr 732 Thr
RISN_GRM6:c.2196G>A protEffect p.Thr732Thr
RISN_GRM6:c.2341G>A commonName Glu 781 Lys
RISN_GRM6:c.2341G>A phenoCommon CSNB
RISN_GRM6:c.2341G>A protEffect p.Glu781Lys
RISN_GRM6:c.2397C>T commonName Phe 799 Phe
RISN_GRM6:c.2397C>T protEffect p.Phe799Phe
RISN_GRM6:c.2420C>T commonName Ala 807 Val
RISN_GRM6:c.2420C>T protEffect p.Ala807Val
RISN_GRM6:c.2436+46A>C commonName IVS9+46a>c
RISN_GRM6:c.2436+55G>A commonName IVS9+55g>a
RISN_GRM6:c.2437-6G>A commonName IVS9-6g>a
RISN_GRM6:c.2634*56A>C commonName 2690A>C
RISN_RPGR:c.28+5G>A commonName IVS1+5g-a
RISN_RPGR:c.28+5G>A phenoCommon RP3
RISN_RPGR:c.28+1G>A commonName IVS1+1g-a
RISN_RPGR:c.28+1G>A phenoCommon RP3
RISN_RPGR:c.29-15A>G commonName IVS1-15g/a
RISN_RPGR:c.97delA commonName 97delA
RISN_RPGR:c.97delA phenoCommon RP3
RISN_RPGR:c.106G>T commonName Val 36 Pro
RISN_RPGR:c.106G>T phenoCommon CSNB
RISN_RPGR:c.106G>T protEffect p.Val36Pro
RISN_RPGR:c.127G>A commonName Gly 43 Arg
RISN_RPGR:c.127G>A phenoCommon RP3
RISN_RPGR:c.127G>A protEffect p.Gly43Arg
RISN_RPGR:c.128G>A commonName Gly 43 Glu
RISN_RPGR:c.128G>A phenoCommon RP3
RISN_RPGR:c.128G>A protEffect p.Gly43Glu
RISN_RPGR:c.141T>G commonName Ser 47 Ser
RISN_RPGR:c.141T>G protEffect p.Ser47Ser
RISN_RPGR:c.154G>T commonName Gly 52 ter
RISN_RPGR:c.154G>T phenoCommon RP3
RISN_RPGR:c.154G>T protEffect p.Gly52X
RISN_RPGR:c.155-2A>G commonName IVS2-2a-g
RISN_RPGR:c.155-2A>G phenoCommon RP3
RISN_RPGR:c.248-2A>G commonName IVS3-2a-g
RISN_RPGR:c.248-2A>G phenoCommon RP3
RISN_RPGR:c.179G>T commonName Gly 60 Val
RISN_RPGR:c.179G>T phenoCommon RP3
RISN_RPGR:c.179G>T protEffect p.Gly60Val
RISN_RPGR:c.237_238delAT commonName 237delAT
RISN_RPGR:c.237_238delAT phenoCommon RP3
RISN_RPGR:c.248-6T>A commonName IVS3-6t-a
RISN_RPGR:c.248-6T>A phenoCommon RP3
RISN_RPGR:c.294C>A commonName His 98 Gln
RISN_RPGR:c.294C>A phenoCommon RP3
RISN_RPGR:c.294C>A protEffect p.His98Gln
RISN_RPGR:c.296C>A commonName Thr 99 Asn
RISN_RPGR:c.296C>A phenoCommon RP3
RISN_RPGR:c.296C>A protEffect p.Thr99Asn
RISN_RPGR:c.295_296insCA commonName 296insCA
RISN_RPGR:c.295_296insCA phenoCommon RP3
RISN_RPGR:c.310+1G>C commonName IVS4+1g-c
RISN_RPGR:c.310+1G>C phenoCommon RP3
RISN_RPGR:c.310+3A>G commonName IVS4+3a-g
RISN_RPGR:c.310+3A>G phenoCommon RP3
RISN_RPGR:c.355delT commonName 355delT
RISN_RPGR:c.355delT phenoCommon RP3
RISN_RPGR:c.371delC commonName 371delC
RISN_RPGR:c.371delC phenoCommon RP3
RISN_RPGR:c.379A>G commonName Arg 127 Gly
RISN_RPGR:c.379A>G phenoCommon RP3
RISN_RPGR:c.379A>G protEffect p.Arg127Gly
RISN_RPGR:c.389T>G commonName Phe 130 Cys
RISN_RPGR:c.389T>G phenoCommon RP3
RISN_RPGR:c.389T>G protEffect p.Phe130Cys
RISN_RPGR:c.415G>T commonName Glu 139 ter
RISN_RPGR:c.415G>T phenoCommon RP3
RISN_RPGR:c.415G>T protEffect p.Glu139X
RISN_RPGR:c.469+1G>A commonName IVS5+1g-a
RISN_RPGR:c.469+1G>A phenoCommon RP3
RISN_RPGR:c.482delT commonName 482delT
RISN_RPGR:c.482delT phenoCommon RP3
RISN_RPGR:c.482_483delTT commonName 482delTT
RISN_RPGR:c.482_483delTT phenoCommon RP3
RISN_RPGR:c.492G>A commonName Trp 164 ter
RISN_RPGR:c.492G>A phenoCommon RP3
RISN_RPGR:c.492G>A protEffect p.Trp164X
RISN_RPGR:c.581G>A commonName Trp 194 ter
RISN_RPGR:c.581G>A phenoCommon RP3
RISN_RPGR:c.581G>A protEffect p.Trp194X
RISN_RPGR:c.605C>A commonName Ser 202 ter
RISN_RPGR:c.605C>A phenoCommon RP3
RISN_RPGR:c.605C>A protEffect p.Ser202X
RISN_RPGR:c.619+5G>A commonName IVS6+5g-a
RISN_RPGR:c.619+5G>A phenoCommon RP3
RISN_RPGR:c.620-41T>C commonName IVS6-41t-c
RISN_RPGR:c.644G>T commonName Gly 215 Val
RISN_RPGR:c.644G>T phenoCommon RP3
RISN_RPGR:c.644G>T protEffect p.Gly215Val
RISN_RPGR:c.703C>T commonName Pro 235 Ser
RISN_RPGR:c.703C>T phenoCommon RP3
RISN_RPGR:c.703C>T protEffect p.Pro235Ser
RISN_RPGR:c.706C>T commonName Gln 236 ter
RISN_RPGR:c.706C>T phenoCommon RP3
RISN_RPGR:c.706C>T protEffect p.Gln236X
RISN_RPGR:c.730A>T commonName Lys 244 ter
RISN_RPGR:c.730A>T phenoCommon RP3
RISN_RPGR:c.730A>T protEffect p.Lys244X
RISN_RPGR:c.732G>A commonName Lys 244 Lys
RISN_RPGR:c.732G>A protEffect p.Lys244Lys
RISN_RPGR:c.747delC commonName 746delC
RISN_RPGR:c.747delC phenoCommon Pathogenic
RISN_RPGR:c.748T>C commonName Cys 250 Arg
RISN_RPGR:c.748T>C phenoCommon RP3
RISN_RPGR:c.748T>C protEffect p.Cys250Arg
RISN_RPGR:c.750_751delTG commonName 750delTG
RISN_RPGR:c.750_751delTG phenoCommon RP3
RISN_RPGR:c.(?_779)_(1245_?)del commonName del Exon 8-10
RISN_RPGR:c.(?_779)_(1245_?)del phenoCommon RP3
RISN_RPGR:c.(?_779)_(934_?)del commonName Deletion exon 8
RISN_RPGR:c.(?_779)_(934_?)del phenoCommon RP3
RISN_RPGR:c.779-1G>A commonName IVS7-1g-a
RISN_RPGR:c.779-1G>A phenoCommon Possibly pathogenic
RISN_RPGR:c.778+5G>A commonName IVS7+5g-a
RISN_RPGR:c.778+5G>A phenoCommon RP3
RISN_RPGR:c.823G>A commonName Gly 275 Ser
RISN_RPGR:c.823G>A phenoCommon RP3
RISN_RPGR:c.823G>A protEffect p.Gly275Ser
RISN_RPGR:c.833_836delCTTT commonName 833delCTTT
RISN_RPGR:c.833_836delCTTT phenoCommon Pathogenic
RISN_RPGR:c.834delT commonName 834delT
RISN_RPGR:c.834delT phenoCommon RP3
RISN_RPGR:c.834_835delTT commonName 834delTT
RISN_RPGR:c.834_835delTT phenoCommon Possibly pathogenic
RISN_RPGR:c.836_2209del commonName 836del1374bp
RISN_RPGR:c.836_2209del phenoCommon RP3
RISN_RPGR:c.865A>G commonName Ile 289 Val
RISN_RPGR:c.865A>G phenoCommon RP3
RISN_RPGR:c.865A>G protEffect p.Ile289Val
RISN_RPGR:c.869delA commonName 869delA
RISN_RPGR:c.869delA phenoCommon RP3
RISN_RPGR:c.886_900del commonName 886del15bp
RISN_RPGR:c.886_900del phenoCommon RP3
RISN_RPGR:c.904T>C commonName Cys 302 Arg
RISN_RPGR:c.904T>C phenoCommon RP3
RISN_RPGR:c.904T>C protEffect p.Cys302Arg
RISN_RPGR:c.905G>A commonName Cys 302 Tyr
RISN_RPGR:c.905G>A phenoCommon RP3
RISN_RPGR:c.905G>A protEffect p.Cys302Tyr
RISN_RPGR:c.931A>G commonName Asp 312 Asn
RISN_RPGR:c.931A>G phenoCommon Possibly pathogenic
RISN_RPGR:c.931A>G protEffect p.Asp312Asn
RISN_RPGR:c.934+1G>A commonName IVS8+1g-a
RISN_RPGR:c.934+1G>A phenoCommon RP3
RISN_RPGR:c.934+1G>C commonName IVS8+1g-c
RISN_RPGR:c.934+1G>C phenoCommon RP3
RISN_RPGR:c.958G>A commonName Gly 320 Arg
RISN_RPGR:c.958G>A phenoCommon Possibly pathogenic
RISN_RPGR:c.958G>A protEffect p.Gly320Arg
RISN_RPGR:c.980T>G commonName Leu 327 ter
RISN_RPGR:c.980T>G phenoCommon RP3
RISN_RPGR:c.980T>G protEffect p.Leu327X
RISN_RPGR:c.994G>T commonName Glu 332 ter
RISN_RPGR:c.994G>T phenoCommon RP3
RISN_RPGR:c.994G>T protEffect p.Glu332X
RISN_RPGR:c.1033A>G commonName Asn 345 Asp
RISN_RPGR:c.1033A>G protEffect p.Asn345Asp
RISN_RPGR:c.1088dupT commonName 1088insT
RISN_RPGR:c.1088dupT phenoCommon RP3
RISN_RPGR:c.1099delC commonName 1099delC
RISN_RPGR:c.1099delC phenoCommon RP3
RISN_RPGR:c.1120G>T commonName Glu 374 ter
RISN_RPGR:c.1120G>T phenoCommon RP3
RISN_RPGR:c.1120G>T protEffect p.Glu374X
RISN_RPGR:c.1164G>A commonName Ala 388 Ala
RISN_RPGR:c.1164G>A protEffect p.Ala388Ala
RISN_RPGR:c.1243_1244dupAG commonName 1243insAG
RISN_RPGR:c.1243_1244dupAG phenoCommon RP3
RISN_RPGR:c.1245+3A>G commonName IVS10+3a-g
RISN_RPGR:c.1245+3A>G phenoCommon RP3
RISN_RPGR:c.1245+16A>G commonName IVS10+16a-g
RISN_RPGR:c.1245+16A>G phenoCommon RP3
RISN_RPGR:c.1261_1279del commonName 1261del19bp
RISN_RPGR:c.1261_1279del phenoCommon RP3
RISN_RPGR:c.1274G>A commonName Arg 425 Lys
RISN_RPGR:c.1274G>A protEffect p.Arg425Lys
RISN_RPGR:c.1291A>G commonName Ile 431 Val
RISN_RPGR:c.1291A>G protEffect p.Ile431Val
RISN_RPGR:c.1307G>A commonName Gly 436 Asp
RISN_RPGR:c.1307G>A phenoCommon RP3
RISN_RPGR:c.1307G>A protEffect p.Gly436Asp
RISN_RPGR:c.1376_1377delTC commonName 1376delTC
RISN_RPGR:c.1376_1377delTC phenoCommon RP3
RISN_RPGR:c.1402_1405delCCAG commonName 1402delCCAG
RISN_RPGR:c.1402_1405delCCAG phenoCommon RP3
RISN_RPGR:c.1476delC commonName 1476delC
RISN_RPGR:c.1476delC phenoCommon RP3
RISN_RPGR:c.1478T>A commonName Asn 493 Lys
RISN_RPGR:c.1478T>A phenoCommon RP3
RISN_RPGR:c.1478T>A protEffect p.Asn493Lys
RISN_RPGR:c.1507-101T>A commonName IVS12-101t/aa
RISN_RPGR:c.1507-97T>C commonName IVS12-97t/c
RISN_RPGR:c.1507-104_1507-101delAAAT commonName IVS12-104delAAAT
RISN_RPGR:c.1507-68T>C commonName IVS12-68t/c
RISN_RPGR:c.1508_1509delCA commonName 1508delCA
RISN_RPGR:c.1508_1509delCA phenoCommon RP3
RISN_RPGR:c.1572+11A>G commonName IVS13+11a/g
RISN_RPGR:c.(?_1573)_(3459_?)del commonName del Exon 14 - 15
RISN_RPGR:c.(?_1573)_(3459_?)del phenoCommon RP3
RISN_RPGR:c.1573-2A>G commonName IVS13-2a-g
RISN_RPGR:c.1573-2A>G phenoCommon RP3
RISN_RPGR:c.1573-1G>A commonName IVS13-1g-a
RISN_RPGR:c.1573-1G>A phenoCommon RP3
RISN_RPGR:c.1573-8A>G commonName IVS13-8a-g
RISN_RPGR:c.1573-8A>G phenoCommon RP3
RISN_RPGR:c.1575_1578delACAA commonName 1575del ACAA
RISN_RPGR:c.1575_1578delACAA phenoCommon RP3
RISN_RPGR:c.1576_1578delCAA commonName 1576delCAA
RISN_RPGR:c.1576_1578delCAA phenoCommon Possibly pathogenic
RISN_RPGR:c.1598C>T commonName Thr 533 Met
RISN_RPGR:c.1598C>T phenoCommon Possibly pathogenic
RISN_RPGR:c.1598C>T protEffect p.Thr533Met
RISN_RPGR:c.1697G>A commonName Gly 566 Glu
RISN_RPGR:c.1697G>A protEffect p.Gly566Glu
RISN_RPGR:c.1747G>T commonName Glu 583 ter
RISN_RPGR:c.1747G>T phenoCommon Pathogenic
RISN_RPGR:c.1747G>T protEffect p.Glu583X
RISN_RPGR:c.1832dupA commonName 18332insA
RISN_RPGR:c.1832dupA phenoCommon RP3
RISN_RPGR:c.2008C>T commonName Gln 670 ter
RISN_RPGR:c.2008C>T phenoCommon RP3
RISN_RPGR:c.2008C>T protEffect p.Gln670X
RISN_RPGR:c.2055A>G commonName Glu 685 Glu
RISN_RPGR:c.2055A>G protEffect p.Glu685Glu
RISN_RPGR:c.2080A>T commonName Lys 694 ter
RISN_RPGR:c.2080A>T phenoCommon Possibly pathogenic
RISN_RPGR:c.2080A>T protEffect p.Lys694X
RISN_RPGR:c.2106_2109delGAAG commonName 2106delGAAG
RISN_RPGR:c.2106_2109delGAAG phenoCommon Pathogenic
RISN_RPGR:c.2109_2110ins4 commonName 2110ins4bp
RISN_RPGR:c.2109_2110ins4 phenoCommon Possibly pathogenic
RISN_RPGR:c.2144_2216dup commonName 2144dup73bp
RISN_RPGR:c.2144_2216dup phenoCommon RP3
RISN_RPGR:c.2218G>T commonName Glu 740 ter
RISN_RPGR:c.2218G>T phenoCommon Possibly pathogenic
RISN_RPGR:c.2218G>T protEffect p.Glu740X
RISN_RPGR:c.2223G>A commonName Glu 741 Glu
RISN_RPGR:c.2223G>A protEffect p.Glu741Glu
RISN_RPGR:c.2226G>A commonName Glu 742 Glu
RISN_RPGR:c.2226G>A protEffect p.Glu742Glu
RISN_RPGR:c.2239_2240delGA commonName 2239delGA
RISN_RPGR:c.2239_2240delGA phenoCommon RP3
RISN_RPGR:c.2245G>T commonName Glu 749 ter
RISN_RPGR:c.2245G>T phenoCommon RP3
RISN_RPGR:c.2245G>T protEffect p.Glu749X
RISN_RPGR:c.2259A>T commonName Gly 753 Gly
RISN_RPGR:c.2259A>T protEffect p.Gly753Gly
RISN_RPGR:c.2260G>T commonName Glu 754 ter
RISN_RPGR:c.2260G>T phenoCommon Possibly pathogenic
RISN_RPGR:c.2260G>T protEffect p.Glu754X
RISN_RPGR:c.2269_2270delGA commonName 2269delGA
RISN_RPGR:c.2269_2270delGA phenoCommon Possibly pathogenic
RISN_RPGR:c.2311delG commonName 2311delG
RISN_RPGR:c.2311delG phenoCommon RP3
RISN_RPGR:c.2317_2318ins14 commonName 2318ins14bp
RISN_RPGR:c.2317_2318ins14 phenoCommon RP3
RISN_RPGR:c.2320_2321delGA commonName 2320delGA
RISN_RPGR:c.2320_2321delGA phenoCommon Pathogenic
RISN_RPGR:c.2340A>G commonName Arg 780 Arg
RISN_RPGR:c.2340A>G protEffect p.Arg780Arg
RISN_RPGR:c.2342C>A commonName Ala 781 Thr
RISN_RPGR:c.2342C>A phenoCommon Non pathogenic
RISN_RPGR:c.2342C>A protEffect p.Ala781Thr
RISN_RPGR:c.2356_2357delAA commonName 2356delAA
RISN_RPGR:c.2356_2357delAA phenoCommon Pathogenic
RISN_RPGR:c.2357_2375del commonName 2357del19bp
RISN_RPGR:c.2357_2375del phenoCommon RP3
RISN_RPGR:c.2400_2401delAA commonName 2400del AA
RISN_RPGR:c.2400_2401delAA phenoCommon RP3
RISN_RPGR:c.2403_2406delAGAG commonName 2403delAGAG
RISN_RPGR:c.2403_2406delAGAG phenoCommon Pathogenic
RISN_RPGR:c.2405_2406delAG commonName 2405delAG
RISN_RPGR:c.2405_2406delAG phenoCommon RP3
RISN_RPGR:c.2412_2413delAG commonName 2412delAG
RISN_RPGR:c.2412_2413delAG phenoCommon Pathogenic
RISN_RPGR:c.2426_2427delAG commonName 2426delAG
RISN_RPGR:c.2426_2427delAG phenoCommon RP3
RISN_RPGR:c.2442_2445delAGAG commonName 2442delAGAG
RISN_RPGR:c.2442_2445delAGAG phenoCommon RP3
RISN_RPGR:c.2447_2461del commonName 2447del15bp
RISN_RPGR:c.2496dupG commonName 2496insG
RISN_RPGR:c.2496dupG phenoCommon RP3
RISN_RPGR:c.2522delA commonName 2522delA
RISN_RPGR:c.2522delA phenoCommon RP3
RISN_RPGR:c.2541_2561del commonName 2541del21bp
RISN_RPGR:c.2557G>T commonName Glu 853 ter
RISN_RPGR:c.2557G>T phenoCommon RP3
RISN_RPGR:c.2557G>T protEffect p.Glu853X
RISN_RPGR:c.2584_2585delGG commonName 2584delGG
RISN_RPGR:c.2584_2585delGG phenoCommon RP3
RISN_RPGR:c.2605_2619del commonName 2605del15bp
RISN_RPGR:c.2611_2612dupGG commonName 2611insGG
RISN_RPGR:c.2611_2612dupGG phenoCommon RP3
RISN_RPGR:c.2625_2626insA commonName 2626insA
RISN_RPGR:c.2625_2626insA phenoCommon RP3
RISN_RPGR:c.2650G>T commonName Glu 884 ter
RISN_RPGR:c.2650G>T phenoCommon RP3
RISN_RPGR:c.2650G>T protEffect p.Glu884X
RISN_RPGR:c.2667_2669delGGA commonName 2667delGGA
RISN_RPGR:c.2728_2729delGG commonName 2728delGG
RISN_RPGR:c.2728_2729delGG phenoCommon RP3
RISN_RPGR:c.2761_2762delGG commonName 2761delGG
RISN_RPGR:c.2761_2762delGG phenoCommon RP3
RISN_RPGR:c.2820_2840dup commonName 2820dup21bp
RISN_RPGR:c.2894delA commonName 2894delA
RISN_RPGR:c.2894delA phenoCommon RP3
RISN_RPGR:c.2925_2945dup commonName 2925dup21bp
RISN_RPGR:c.2992_2996delGAAGG commonName 2992delGAAGG
RISN_RPGR:c.2992_2996delGAAGG phenoCommon RP3
RISN_RPGR:c.3072_3083del commonName 3072del12bp
RISN_RPGR:c.3086_3097del commonName 3086del12bp
RISN_RPGR:c.3101_3102delAG commonName 3101delAG
RISN_RPGR:c.3101_3102delAG phenoCommon COD1
RISN_RPGR:c.3102delA commonName 3102delA
RISN_RPGR:c.3102delA phenoCommon Pathogenic
RISN_RPGR:c.3105delG commonName 3105delG
RISN_RPGR:c.3105delG phenoCommon RP3
RISN_RPGR:c.3231T>C commonName Gly 1077 Gly
RISN_RPGR:c.3231T>C protEffect p.Gly1077Gly
RISN_RPGR:c.3243T>A commonName Asn 1081 Lys
RISN_RPGR:c.3243T>A phenoCommon Possibly pathogenic
RISN_RPGR:c.3243T>A protEffect p.Asn1081Lys
RISN_RPGR:c.3246A>G commonName Val 1092 Val
RISN_RPGR:c.3246A>G protEffect p.Val1092Val
RISN_RPGR:c.3322_3323insA commonName 3323insA
RISN_RPGR:c.3322_3323insA phenoCommon COD1
RISN_RPGR:c.3408T>C commonName Asn 1136 Asn
RISN_RPGR:c.3408T>C protEffect p.Asn1136Asn
RISN_BBS1:c.432+1G>A commonName IVS4+1G-A
RISN_BBS1:c.432+1G>A phenoCommon BBS1
RISN_BBS1:c.851delA commonName 851delA
RISN_BBS1:c.851delA phenoCommon BBS1
RISN_BBS1:c.1169T>G commonName Met 390 Arg
RISN_BBS1:c.1169T>G phenoCommon BBS1
RISN_BBS1:c.1169T>G protEffect p.Met390Arg
RISN_BBS1:c.1655T>G commonName Glu 549 ter
RISN_BBS1:c.1655T>G phenoCommon BBS1
RISN_BBS1:c.1655T>G protEffect p.Glu549X
RISN_OA1:c.13C>T commonName Arg 5 Cys
RISN_OA1:c.13C>T phenoCommon OA1
RISN_OA1:c.13C>T protEffect p.Arg5Cys
RISN_OA1:c.104G>A commonName Gly 35 Asp
RISN_OA1:c.104G>A phenoCommon OA1
RISN_OA1:c.104G>A protEffect p.Gly35Asp
RISN_OA1:c.116T>G commonName Leu 39 Cys
RISN_OA1:c.116T>G phenoCommon OA1
RISN_OA1:c.116T>G protEffect p.Leu39Cys
RISN_OA1:c.151_157del commonName 151del7
RISN_OA1:c.151_157del phenoCommon OA1
RISN_OA1:c.165_193del commonName 165del29bp
RISN_OA1:c.165_193del phenoCommon OA1
RISN_OA1:c.174_175insC commonName 175insC
RISN_OA1:c.174_175insC phenoCommon OA1
RISN_OA1:c.175delT commonName 175delT
RISN_OA1:c.175delT phenoCommon OA1
RISN_OA1:c.215_231del commonName 215del17bp
RISN_OA1:c.215_231del phenoCommon OA1
RISN_OA1:c.232G>A commonName Asp 78 Asn
RISN_OA1:c.232G>A phenoCommon OA1
RISN_OA1:c.232G>A protEffect p.Asp78Asn
RISN_OA1:c.233A>T commonName Asp 78 Val
RISN_OA1:c.233A>T phenoCommon OA1
RISN_OA1:c.233A>T protEffect p.Asp78Val
RISN_OA1:c.250G>C commonName Gly 84 Arg
RISN_OA1:c.250G>C phenoCommon OA1
RISN_OA1:c.250G>C protEffect p.Gly84Arg
RISN_OA1:c.(?_251)_(360_?)del commonName Deletion Exon 2
RISN_OA1:c.(?_251)_(360_?)del phenoCommon OA1
RISN_OA1:c.(?_251)_(1120_?)del commonName Deletion Exon 2 - 8
RISN_OA1:c.(?_251)_(1120_?)del phenoCommon OA1
RISN_OA1:c.251G>A commonName Gly 84 Asp
RISN_OA1:c.251G>A phenoCommon OA1
RISN_OA1:c.251G>A protEffect p.Gly84Asp
RISN_OA1:c.251-1G>C commonName IVS1-1g-c
RISN_OA1:c.251-1G>C phenoCommon OA1
RISN_OA1:c.310delG commonName 310delG
RISN_OA1:c.310delG phenoCommon OA1
RISN_OA1:c.347G>C commonName Cys 116 Ser
RISN_OA1:c.347G>C phenoCommon OA1
RISN_OA1:c.347G>C protEffect p.Cys116Ser
RISN_OA1:c.346T>C commonName Cys 116 Arg
RISN_OA1:c.346T>C phenoCommon OA1
RISN_OA1:c.346T>C protEffect p.Cys116Arg
RISN_OA1:c.353G>A commonName Gly 118 Glu
RISN_OA1:c.353G>A phenoCommon OA1
RISN_OA1:c.353G>A protEffect p.Gly118Glu
RISN_OA1:c.360G>A commonName Ala 120 Ala
RISN_OA1:c.360G>A phenoCommon OA1
RISN_OA1:c.360G>A protEffect p.Ala120Ala
RISN_OA1:c.360+5G>C commonName IVS2+5g-c
RISN_OA1:c.360+5G>C phenoCommon OA1
RISN_OA1:c.360+13C>G commonName IVS2+13c/g
RISN_OA1:c.(?_361)_(455_?)del commonName Deletion Exon 3
RISN_OA1:c.(?_361)_(455_?)del phenoCommon OA1
RISN_OA1:c.371A>G commonName Gln 124 Arg
RISN_OA1:c.371A>G phenoCommon OA1
RISN_OA1:c.371A>G protEffect p.Gln124Arg
RISN_OA1:c.397T>A commonName Trp 133 Arg
RISN_OA1:c.397T>A phenoCommon OA1
RISN_OA1:c.397T>A protEffect p.Trp133Arg
RISN_OA1:c.397T>C commonName Trp 133 Arg
RISN_OA1:c.397T>C phenoCommon OA1
RISN_OA1:c.397T>C protEffect p.Trp133Arg
RISN_OA1:c.402delG commonName 402delG
RISN_OA1:c.402delG phenoCommon OA1
RISN_OA1:c.413C>T commonName Ala 138 Val
RISN_OA1:c.413C>T phenoCommon OA1
RISN_OA1:c.413C>T protEffect p.Ala138Val
RISN_OA1:c.444_445insAGATCGG commonName 445insAGATCGG
RISN_OA1:c.444_445insAGATCGG phenoCommon OA1
RISN_OA1:c.455G>A commonName Ser 152 Asn
RISN_OA1:c.455G>A phenoCommon OA1
RISN_OA1:c.455G>A protEffect p.Ser152Asn
RISN_OA1:c.455+1G>C commonName IVS3+1g-c
RISN_OA1:c.455+1G>C phenoCommon OA1
RISN_OA1:c.(?_456)_(658_?)del commonName Deletion Exon 4 - 5
RISN_OA1:c.(?_456)_(658_?)del phenoCommon OA1
RISN_OA1:c.(?_456)_(548_?)del commonName Deletion Exon 4
RISN_OA1:c.(?_456)_(548_?)del phenoCommon OA1
RISN_OA1:c.518C>A commonName Ala 173 Asp
RISN_OA1:c.518C>A phenoCommon OA1
RISN_OA1:c.518C>A protEffect p.Ala173Asp
RISN_OA1:c.676delG commonName 676delG
RISN_OA1:c.676delG phenoCommon OA1
RISN_OA1:c.686G>T commonName Gly 229 Val
RISN_OA1:c.686G>T phenoCommon OA1
RISN_OA1:c.686G>T protEffect p.Gly229Val
RISN_OA1:c.695C>A commonName Thr 232 Lys
RISN_OA1:c.695C>A phenoCommon OA1
RISN_OA1:c.695C>A protEffect p.Thr232Lys
RISN_OA1:c.697G>A commonName Glu 233 Lys
RISN_OA1:c.697G>A phenoCommon OA1
RISN_OA1:c.697G>A protEffect p.Glu233Lys
RISN_OA1:c.705G>A commonName Glu 235 Lys
RISN_OA1:c.705G>A phenoCommon OA1
RISN_OA1:c.705G>A protEffect p.Glu235Lys
RISN_OA1:c.730A>G commonName Ile 244 Val
RISN_OA1:c.730A>G phenoCommon OA1
RISN_OA1:c.730A>G protEffect p.Ile244Val
RISN_OA1:c.754_767del commonName 754del14bp
RISN_OA1:c.754_767del phenoCommon OA1
RISN_OA1:c.779A>T commonName Ile 261 Asn
RISN_OA1:c.779A>T phenoCommon OA1
RISN_OA1:c.779A>T protEffect p.Ile261Asn
RISN_OA1:c.812A>G commonName Glu 271 Gly
RISN_OA1:c.812A>G phenoCommon OA1
RISN_OA1:c.812A>G protEffect p.Glu271Gly
RISN_OA1:c.885+1G>A commonName IVS7+1g-a
RISN_OA1:c.885+1G>A phenoCommon OA1
RISN_OA1:c.868_870delACC commonName 868delACC
RISN_OA1:c.868_870delACC phenoCommon OA1
RISN_OA1:c.874T>G commonName Trp 292 Gly
RISN_OA1:c.874T>G phenoCommon OA1
RISN_OA1:c.874T>G protEffect p.Trp292Gly
RISN_OA1:c.876G>T commonName Trp 292 Cys
RISN_OA1:c.876G>T phenoCommon OA1
RISN_OA1:c.876G>T protEffect p.Trp292Cys
RISN_OA1:c.876G>A commonName Trp 292 ter
RISN_OA1:c.876G>A phenoCommon OA1
RISN_OA1:c.876G>A protEffect p.Trp292X
RISN_OA1:c.931_932insCG commonName 932insCG
RISN_OA1:c.931_932insCG phenoCommon OA1
RISN_OA1:c.1215*194C>T commonName 1409c/t
RISN_CRB1:c.478dupG commonName 478insG
RISN_CRB1:c.478dupG phenoCommon ARRP
RISN_CRB1:c.2882_2884delTAT commonName 2882delTAT
RISN_CRB1:c.2882_2884delTAT phenoCommon ARRP
RISN_CRB1:c.3961T>A commonName Cys 1321 Ser
RISN_CRB1:c.3961T>A phenoCommon ARRP
RISN_CRB1:c.3961T>A protEffect p.Cys1321Ser
RISN_CRB1:c.3961_3970del commonName 3343del10bp
RISN_CRB1:c.3961_3970del phenoCommon ARRP
RISN_CRB1:c.482C>T commonName Ala 161 Val
RISN_CRB1:c.482C>T phenoCommon ARRP (RP12)
RISN_CRB1:c.482C>T protEffect p.Ala161Val
RISN_CRB1:c.750T>G commonName Cys 250 Trp
RISN_CRB1:c.750T>G phenoCommon ARRP (RP12)
RISN_CRB1:c.750T>G protEffect p.Cys250Trp
RISN_CRB1:c.1208C>G commonName Ser 403 ter
RISN_CRB1:c.1208C>G phenoCommon ARRP (RP12)
RISN_CRB1:c.1208C>G protEffect p.Ser403X
RISN_CRB1:c.2234C>T commonName Thr 745 Met
RISN_CRB1:c.2234C>T phenoCommon ARRP (RP12)
RISN_CRB1:c.2234C>T protEffect p.Thr745Met
RISN_CRB1:c.2244_2246delATC commonName 2244delATC
RISN_CRB1:c.2244_2246delATC phenoCommon ARRP (RP12)
RISN_CRB1:c.2290C>T commonName Arg 764 Cys
RISN_CRB1:c.2290C>T phenoCommon ARRP (RP12)
RISN_CRB1:c.2290C>T protEffect p.Arg764Cys
RISN_CRB1:c.2842T>A commonName Cys 948 Tyr
RISN_CRB1:c.2842T>A phenoCommon ARRP (RP12)
RISN_CRB1:c.2842T>A protEffect p.Cys948Tyr
RISN_CRB1:c.2843G>A commonName Cys 948 Tyr
RISN_CRB1:c.2843G>A phenoCommon ARRP (RP12)
RISN_CRB1:c.2843G>A protEffect p.Cys948Tyr
RISN_CRB1:c.2983G>T commonName Glu 995 ter
RISN_CRB1:c.2983G>T phenoCommon ARRP (RP12)
RISN_CRB1:c.2983G>T protEffect p.Glu995X
RISN_CRB1:c.3122T>C commonName Met 1041 Thr
RISN_CRB1:c.3122T>C phenoCommon ARRP (RP12)
RISN_CRB1:c.3122T>C protEffect p.Met1041Thr
RISN_CRB1:c.3212T>C commonName Leu 1071 Pro
RISN_CRB1:c.3212T>C phenoCommon ARRP (RP12)
RISN_CRB1:c.3212T>C protEffect p.Leu1071Pro
RISN_CRB1:c.2671T>G commonName Cys 891 Gly
RISN_CRB1:c.2671T>G phenoCommon early onset RP
RISN_CRB1:c.2671T>G protEffect p.Cys891Gly
RISN_CRB1:c.3299T>C commonName Ile 1100 Thr
RISN_CRB1:c.3299T>C phenoCommon early onset RP + macular symptoms
RISN_CRB1:c.3299T>C protEffect p.Ile1100Thr
RISN_CRB1:c.614T>C commonName Ile 205 Thr
RISN_CRB1:c.614T>C phenoCommon LCA
RISN_CRB1:c.614T>C protEffect p.Ile205Thr
RISN_CRB1:c.111delT commonName 111delT
RISN_CRB1:c.111delT phenoCommon LCA6
RISN_CRB1:c.257_258insGT commonName 285insGT
RISN_CRB1:c.257_258insGT phenoCommon LCA6
RISN_CRB1:c.428_432del commonName 428del5bp
RISN_CRB1:c.428_432del phenoCommon LCA6
RISN_CRB1:c.430T>G commonName Phe 144 Val
RISN_CRB1:c.430T>G phenoCommon LCA6
RISN_CRB1:c.430T>G protEffect p.Phe144Val
RISN_CRB1:c.611_617del commonName 611del7bp
RISN_CRB1:c.611_617del phenoCommon LCA6
RISN_CRB1:c.613_619del commonName 613del7bp
RISN_CRB1:c.613_619del phenoCommon LCA6
RISN_CRB1:c.616_621del commonName 616del6bp
RISN_CRB1:c.616_621del phenoCommon LCA6
RISN_CRB1:c.866C>T commonName Thr 289 Met
RISN_CRB1:c.866C>T phenoCommon LCA6
RISN_CRB1:c.866C>T protEffect p.Thr289Met
RISN_CRB1:c.1148G>A commonName Cys 383 Tyr
RISN_CRB1:c.1148G>A phenoCommon LCA6
RISN_CRB1:c.1148G>A protEffect p.Cys383Tyr
RISN_CRB1:c.1438T>C commonName Cys 480 Arg
RISN_CRB1:c.1438T>C phenoCommon LCA6
RISN_CRB1:c.1438T>C protEffect p.Cys480Arg
RISN_CRB1:c.1439G>A commonName Cys 480 Gly
RISN_CRB1:c.1439G>A phenoCommon LCA6
RISN_CRB1:c.1439G>A protEffect p.Cys480Gly
RISN_CRB1:c.2042G>A commonName Cys 681 Tyr
RISN_CRB1:c.2042G>A phenoCommon LCA6
RISN_CRB1:c.2042G>A protEffect p.Cys681Tyr
RISN_CRB1:c.2128G>C commonName Glu 710 Gln
RISN_CRB1:c.2128G>C phenoCommon LCA6
RISN_CRB1:c.2128G>C protEffect p.Glu710Gln
RISN_CRB1:c.2222T>C commonName Met 741 Thr
RISN_CRB1:c.2222T>C phenoCommon LCA6
RISN_CRB1:c.2222T>C protEffect p.Met741Thr
RISN_CRB1:c.2441T>A commonName Lys 801 ter
RISN_CRB1:c.2441T>A phenoCommon LCA6
RISN_CRB1:c.2441T>A protEffect p.Lys801X
RISN_CRB1:c.2479G>T commonName Gly 827 ter
RISN_CRB1:c.2479G>T phenoCommon LCA6
RISN_CRB1:c.2479G>T protEffect p.Gly827X
RISN_CRB1:c.2548_2551del commonName 2548del4bp
RISN_CRB1:c.2548_2551del phenoCommon LCA6
RISN_CRB1:c.2555T>C commonName Ile 852 Thr
RISN_CRB1:c.2555T>C phenoCommon LCA6
RISN_CRB1:c.2555T>C protEffect p.Ile852Thr
RISN_CRB1:c.2613dupT commonName 2613insT
RISN_CRB1:c.2613dupT phenoCommon LCA6
RISN_CRB1:c.2688T>A commonName Cys 896 ter
RISN_CRB1:c.2688T>A phenoCommon LCA6
RISN_CRB1:c.2688T>A protEffect p.Cys896X
RISN_CRB1:c.2853dupT commonName 2853insT
RISN_CRB1:c.2853dupT phenoCommon LCA6
RISN_CRB1:c.3074G>T commonName Ser 1025 Ile
RISN_CRB1:c.3074G>T phenoCommon LCA6
RISN_CRB1:c.3074G>T protEffect p.Ser1025Ile
RISN_CRB1:c.3299T>G commonName Ile 1100 Arg
RISN_CRB1:c.3299T>G phenoCommon LCA6
RISN_CRB1:c.3299T>G protEffect p.Ile1100Arg
RISN_CRB1:c.3307G>A commonName Gly 1103 Arg
RISN_CRB1:c.3307G>A phenoCommon LCA6
RISN_CRB1:c.3307G>A protEffect p.Gly1103Arg
RISN_CRB1:c.3320T>C commonName Leu 1107 Pro
RISN_CRB1:c.3320T>C phenoCommon LCA6
RISN_CRB1:c.3320T>C protEffect p.Leu1107Pro
RISN_CRB1:c.3320T>G commonName Leu 1107 Arg
RISN_CRB1:c.3320T>G phenoCommon LCA6
RISN_CRB1:c.3320T>G protEffect p.Leu1107Arg
RISN_CRB1:c.3331G>T commonName Glu 1111 ter
RISN_CRB1:c.3331G>T phenoCommon LCA6
RISN_CRB1:c.3331G>T protEffect p.Glu1111X
RISN_CRB1:c.3345delT commonName 3345delT
RISN_CRB1:c.3345delT phenoCommon LCA6
RISN_CRB1:c.3614G>A commonName Gly 1205 Arg
RISN_CRB1:c.3614G>A phenoCommon LCA6
RISN_CRB1:c.3614G>A protEffect p.Gly1205Arg
RISN_CRB1:c.3879G>A commonName Trp 1293 ter
RISN_CRB1:c.3879G>A phenoCommon LCA6
RISN_CRB1:c.3879G>A protEffect p.Trp1293X
RISN_CRB1:c.3949A>C commonName Asn 1317 His
RISN_CRB1:c.3949A>C phenoCommon LCA6
RISN_CRB1:c.3949A>C protEffect p.Asn1317His
RISN_CRB1:c.4118_4127del commonName 4121del10bp
RISN_CRB1:c.4118_4127del phenoCommon LCA6
RISN_CRB1:c.1410A>G commonName Leu 470 Leu
RISN_CRB1:c.1410A>G protEffect p.Leu470Leu
RISN_CRB1:c.1428C>T commonName Thr 476 Thr
RISN_CRB1:c.1428C>T protEffect p.Thr476Thr
RISN_CRB1:c.1647T>C commonName Asn 549 Asn
RISN_CRB1:c.1647T>C protEffect p.Asn549Asn
RISN_CRB1:c.2823G>A commonName Pro 941 Pro
RISN_CRB1:c.2823G>A protEffect p.Pro941Pro
RISN_CRB1:c.3171C>T commonName Asn 1057 Asn
RISN_CRB1:c.3171C>T protEffect p.Asn1057Asn
RISN_CRB1:c.3992G>A commonName Arg 1331 His
RISN_CRB1:c.3992G>A protEffect p.Arg1331His
RISN_CRB1:c.2035C>G commonName Gln 679 Glu
RISN_CRB1:c.2035C>G phenoCommon Rare Sequence Variant
RISN_CRB1:c.2035C>G protEffect p.Gln679Glu
RISN_CRB1:c.2306G>A commonName Arg 769 His
RISN_CRB1:c.2306G>A phenoCommon Rare Sequence Variant
RISN_CRB1:c.2306G>A protEffect p.Arg769His
RISN_CRB1:c.1298A>G commonName Tyr 433 Cys
RISN_CRB1:c.1298A>G phenoCommon RP + Coats like exudates
RISN_CRB1:c.1298A>G protEffect p.Tyr433Cys
RISN_CRB1:c.2509G>C commonName Asp 837 His
RISN_CRB1:c.2509G>C phenoCommon RP + Coats like exudates
RISN_CRB1:c.2509G>C protEffect p.Asp837His
RISN_CRB1:c.2681A>G commonName Asn 894 Ser
RISN_CRB1:c.2681A>G phenoCommon RP + Coats like exudates
RISN_CRB1:c.2681A>G protEffect p.Asn894Ser
RISN_CRB1:c.3541T>C commonName Cys 1181 Arg
RISN_CRB1:c.3541T>C phenoCommon RP + Coats like exudates
RISN_CRB1:c.3541T>C protEffect p.Cys1181Arg
RISN_TULP1:c.99+1G>A commonName IVS2+1g-a
RISN_TULP1:c.99+1G>A phenoCommon ARRP
RISN_TULP1:c.350-2_350delAGA commonName IVS4-2del agA
RISN_TULP1:c.350-2_350delAGA phenoCommon ARRP
RISN_TULP1:c.897delC commonName 896delC
RISN_TULP1:c.897delC phenoCommon ARRP
RISN_TULP1:c.1265C>G commonName Arg 422 Pro
RISN_TULP1:c.1265C>G phenoCommon ARRP
RISN_TULP1:c.1265C>G protEffect p.Arg422Pro
RISN_TULP1:c.1381C>A commonName Ile 461 Leu
RISN_TULP1:c.1381C>A phenoCommon ARRP
RISN_TULP1:c.1381C>A protEffect p.Ile461Leu
RISN_TULP1:c.1466A>G commonName Lys 489 Arg
RISN_TULP1:c.1466A>G phenoCommon ARRP
RISN_TULP1:c.1466A>G protEffect p.Lys489Arg
RISN_TULP1:c.1495+1G>A commonName IVS14+1g-a
RISN_TULP1:c.1495+1G>A phenoCommon Early-onset severe retinal degeneration
RISN_TULP1:c.200G>C commonName Arg 67 Thr
RISN_TULP1:c.200G>C protEffect p.Arg67Thr
RISN_TULP1:c.360_383del commonName 360del24bp
RISN_TULP1:c.719-19T>A commonName IVS7-19t/a
RISN_TULP1:c.734C>T commonName Ala 245 Val
RISN_TULP1:c.734C>T protEffect p.Ala245Val
RISN_TULP1:c.776T>C commonName Ile 259 Thr
RISN_TULP1:c.776T>C protEffect p.Ile259Thr
RISN_TULP1:c.783C>G commonName Asn 261 Lys
RISN_TULP1:c.783C>G protEffect p.Asn261Lys
RISN_TULP1:c.805A>C commonName Lys 269 Gln
RISN_TULP1:c.805A>C protEffect p.Lys269Gln
RISN_TULP1:c.823-4A>C commonName IVS8-4a/c
RISN_TULP1:c.1369A>G commonName Thr 456 Thr
RISN_TULP1:c.1369A>G protEffect p.Thr456Thr
RISN_TULP1:c.1492G>A commonName Ala 498 Thr
RISN_TULP1:c.1492G>A protEffect p.Ala498Thr
RISN_TULP1:c.1496-6C>A commonName IVS14-6c/a
IPNMDB_423 commonName c.838T>G
IPNMDB_423 alias Cys280Gly
IPNMDB_275 phenoCommon CMT1X
IPNMDB_275 commonName c.841_845delTCGGC
IPNMDB_275 alias Ser281fs
IPNMDB_274 phenoCommon CMT1X
IPNMDB_274 commonName c.842C>A
IPNMDB_274 alias Ser281X
IPNMDB_967 phenoCommon HSN II
IPNMDB_967 commonName c.[639delA]+[1584_1585delAG*]
IPNMDB_967 alias [Arg214fs]+[Asp531fs*]
IPNMDB_393 phenoCommon HSN II
IPNMDB_393 commonName c.918_919insA
IPNMDB_393 alias [Ser307fs]+[Ser307fs]
IPNMDB_809 phenoCommon HSN II
IPNMDB_809 commonName c.1064_1065delTC
IPNMDB_809 alias [Ile355fs]+[Ile355fs]
IPNMDB_810 phenoCommon HSN II
IPNMDB_810 commonName c.1134_1135insT
IPNMDB_810 alias [Asp379fs]+[Asp379fs]
IPNMDB_400 phenoCommon dHMN CMT2
IPNMDB_400 commonName c.379C>T
IPNMDB_400 alias Arg127Trp
IPNMDB_401 phenoCommon CMT2 / dHMN
IPNMDB_401 commonName c.404C>T
IPNMDB_401 alias Ser135Phe
IPNMDB_402 phenoCommon CMT2
IPNMDB_402 commonName c.406C>T
IPNMDB_402 alias Arg136Trp
IPNMDB_403 phenoCommon dHMN
IPNMDB_403 commonName c.452C>T
IPNMDB_403 alias Thr151Ile
IPNMDB_847 phenoCommon dHMN
IPNMDB_847 commonName c.544C>T
IPNMDB_847 alias Pro182Ser
IPNMDB_404 phenoCommon dHMN
IPNMDB_404 commonName c.545C>T
IPNMDB_404 alias Pro182Leu
IPNMDB_405 phenoCommon dHMN II
IPNMDB_405 commonName c.421A>G
IPNMDB_405 alias Lys141Glu
IPNMDB_406 phenoCommon dHMN II
IPNMDB_406 commonName c.423G>C
IPNMDB_406 alias Lys141Asn
IPNMDB_745 phenoCommon CMT2
IPNMDB_745 commonName c.423G>T
IPNMDB_745 alias Lys141Asn
IPNMDB_889 phenoCommon dHMN VI or SMARD1
IPNMDB_889 commonName c.[50T>C]+[1488C>A]
IPNMDB_889 alias [Leu17Pro]+[Cys496X]
IPNMDB_755 phenoCommon dHMN VI or SMARD1
IPNMDB_755 commonName c.114delA
IPNMDB_755 alias [Lys38fs]+[Lys38fs]
IPNMDB_924 phenoCommon dHMN VI or SMARD1
IPNMDB_924 commonName c.[120delC]+[1060G>A]
IPNMDB_924 alias [Leu40fs]+[Gly354Ser]
IPNMDB_768 phenoCommon dHMN VI or SMARD1
IPNMDB_768 commonName c.[121delC]+[388C>T]
IPNMDB_768 alias [Gln41fs]+[Arg130X]
IPNMDB_546 phenoCommon dHMN VI or SMARD1
IPNMDB_546 commonName c.[121C>T]+[675delT]
IPNMDB_546 alias [Gln41X]+[Val225fs]
IPNMDB_554 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_554 commonName c.[127C>T]+[1488C>A]
IPNMDB_554 alias [Arg43X]+[Cys496X]
IPNMDB_764 phenoCommon dHMN VI or SMARD1
IPNMDB_764 commonName c.[138T>A]+[1648_1649insG]
IPNMDB_764 alias [Cys46X]+[Gln551fs]
IPNMDB_896 phenoCommon dHMN VI or SMARD1
IPNMDB_896 commonName c.[163C>T]+[1969C>T]
IPNMDB_896 alias [Gln55X]+[Gln657X]
IPNMDB_550 phenoCommon - (polymorphism)
IPNMDB_550 commonName c.180C>T
IPNMDB_550 alias Tyr60Tyr
IPNMDB_888 phenoCommon dHMN VI or SMARD1
IPNMDB_888 commonName c.388C>T
IPNMDB_888 alias [Arg130X]+[Arg130X]
IPNMDB_758 phenoCommon dHMN VI or SMARD1
IPNMDB_758 commonName c.[388C>T]+[1144G>A]
IPNMDB_758 alias [Arg130X]+[Glu382Lys]
IPNMDB_898 phenoCommon dHMN VI or SMARD1
IPNMDB_898 commonName c.[388C>T]+[1743A>C]
IPNMDB_898 alias [Arg130X]+[Arg581Ser]
IPNMDB_773 phenoCommon dHMN VI or SMARD1
IPNMDB_773 commonName c.[439C>T]+[2362C>T]
IPNMDB_773 alias [Arg147X]+[Arg788X]
IPNMDB_757 phenoCommon dHMN VI or SMARD1
IPNMDB_757 commonName c.[575T>C]+[1277T>C]
IPNMDB_757 alias [Leu192Pro]+[Leu426Pro]
IPNMDB_662 phenoCommon dHMN VI or SMARD1
IPNMDB_662 commonName c.[587A>G]+[1909C>T]
IPNMDB_662 alias Gln196Arg + Arg603Cys
IPNMDB_895 phenoCommon dHMN VI or SMARD1
IPNMDB_895 commonName c.[616C>T]+[1877delT]
IPNMDB_895 alias [Gln206X]+[Leu626fs]
IPNMDB_544 phenoCommon dHMN VI or SMARD1
IPNMDB_544 commonName c.638A>G
IPNMDB_544 alias [His213Arg]+[His213Arg]
IPNMDB_661 phenoCommon dHMN VI or SMARD1
IPNMDB_661 commonName c.[647C>T]+[1807C>T]
IPNMDB_661 alias Pro216Leu + Arg603Cys
IPNMDB_890 phenoCommon dHMN VI or SMARD1
IPNMDB_890 commonName c.[661delA]+[1415T>C]
IPNMDB_890 alias [Thr221fs]+[Leu472Pro]
IPNMDB_431 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_431 commonName c.[661delA]+[?]
IPNMDB_431 alias [Thr221fs] + [?]
IPNMDB_774 phenoCommon dHMN VI or SMARD1
IPNMDB_774 commonName c.[661A>G]+[1813C>T]
IPNMDB_774 alias [Thr221Ala]+[Arg605X]
IPNMDB_767 phenoCommon dHMN VI or SMARD1
IPNMDB_767 commonName c.[707T>G]+[721T>C]
IPNMDB_767 alias [Leu236X]+[Cys241Arg]
IPNMDB_548 phenoCommon dHMN VI or SMARD1
IPNMDB_548 commonName c.707T>G
IPNMDB_548 alias [Leu236X]+[Leu236X]
IPNMDB_665 phenoCommon dHMN VI or SMARD1
IPNMDB_665 commonName c.[752T>C]+[1730T>C]
IPNMDB_665 alias Leu251Pro + Leu577Pro
IPNMDB_897 phenoCommon dHMN VI or SMARD1
IPNMDB_897 commonName c.[904C>T]+[1156T>C]
IPNMDB_897 alias [Gln302X]+[Trp386Arg]
IPNMDB_624 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_624 commonName c.[958C>T]+[1488C>A]
IPNMDB_624 alias [Arg320X]+[Cys496X]
IPNMDB_660 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_660 commonName c.[958C>T]+[1082T>C]
IPNMDB_660 alias [Arg320X]+[Leu361Pro]
IPNMDB_756 phenoCommon dHMN VI or SMARD1
IPNMDB_756 commonName c.983_987delAAGAA
IPNMDB_756 alias [Lys328fs]+[Lys328fs]
IPNMDB_769 phenoCommon dHMN VI or SMARD1
IPNMDB_769 commonName c.1000G>A
IPNMDB_769 alias [Glu334Lys]+[Glu334Lys]
IPNMDB_893 phenoCommon dHMN VI or SMARD1
IPNMDB_893 commonName c.[1060+1G>T]+[1082T>C]
IPNMDB_893 alias [5'-splice site mutation]+[Leu361Pro]
IPNMDB_425 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_425 commonName c.[1082T>C]+[1488C>A]
IPNMDB_425 alias [Leu361Pro]+[Cys496X]
IPNMDB_761 phenoCommon dHMN VI or SMARD1
IPNMDB_761 commonName c.[1082T>C]+[1730T>C]
IPNMDB_761 alias [Leu361Pro]+[Leu577Pro]
IPNMDB_770 phenoCommon dHMN VI or SMARD1
IPNMDB_770 commonName c.[1091T>C]+[2436delT]
IPNMDB_770 alias [Leu364Pro]+[Pro812fs]
IPNMDB_753 phenoCommon dHMN VI or SMARD1
IPNMDB_753 commonName c.[1107C>G]+[256+?_1061-?del]
IPNMDB_753 alias [Phe369Leu]+[Gly86_Thr353del]
IPNMDB_891 phenoCommon dHMN VI or SMARD1
IPNMDB_891 commonName c.[1156T>C]+[1813C>T]
IPNMDB_891 alias [Trp386Arg]+[Arg605X]
IPNMDB_894 phenoCommon dHMN VI or SMARD1
IPNMDB_894 commonName c.[1218delC]+[1708C>T]
IPNMDB_894 alias [Thr407fs]+[Arg570X]
IPNMDB_892 phenoCommon dHMN VI or SMARD1
IPNMDB_892 commonName c.[1235+3A>G]+[1334A>C]
IPNMDB_892 alias [Ala355fs]+[His445Pro]
IPNMDB_547 phenoCommon Severe infantile neuropathy with diaphragmatic weakness
IPNMDB_547 commonName c.1463delT
IPNMDB_547 alias [Leu488fs]+[Leu488fs]
IPNMDB_754 phenoCommon dHMN VI or SMARD1
IPNMDB_754 commonName c.1488C>A
IPNMDB_754 alias [Cys496X]+[Cys496X]
IPNMDB_763 phenoCommon dHMN VI or SMARD1
IPNMDB_763 commonName c.[1488C>A]+[1748A>T]
IPNMDB_763 alias [Cys496X]+[Asn583Ile]
IPNMDB_762 phenoCommon dHMN VI or SMARD1
IPNMDB_762 commonName c.[1488C>A]+[1808G>A]
IPNMDB_762 alias [Cys496X]+[Arg603His]
IPNMDB_664 phenoCommon dHMN VI or SMARD1
IPNMDB_664 commonName c.[1488C>A]+[?]
IPNMDB_664 alias [Cys496X]+[?]
IPNMDB_543 phenoCommon dHMN VI or SMARD1
IPNMDB_543 commonName c.1540G>A
IPNMDB_543 alias [Glu514Lys]+[Glu514Lys]
IPNMDB_771 phenoCommon dHMN VI or SMARD1
IPNMDB_771 commonName c.[1693G>A]+[1730T>C]
IPNMDB_771 alias [Asp565Asn]+[Leu577Pro]
IPNMDB_759 phenoCommon dHMN VI or SMARD1
IPNMDB_759 commonName c.[1714_1716delAAG]+[2922T>G]
IPNMDB_759 alias [Lys572del]+[Asp974Glu]
IPNMDB_545 phenoCommon dHMN VI or SMARD1
IPNMDB_545 commonName c.1738G>A
IPNMDB_545 alias [Val580Ile]+[Val580Ile]
IPNMDB_877 phenoCommon dHMN VI or SMARD1
IPNMDB_877 commonName c.[1738G>A]+[2356delG]
IPNMDB_877 alias [V580I]+[A786fs]
IPNMDB_772 phenoCommon dHMN VI or SMARD1
IPNMDB_772 commonName c.[1756G>T]+[1909C>T]
IPNMDB_772 alias [Gly586Cys]+[Arg637Cys]
IPNMDB_760 phenoCommon dHMN VI or SMARD1
IPNMDB_760 commonName c.[2362C>T]+[?]
IPNMDB_760 alias [Arg788X]+[?]
IPNMDB_549 phenoCommon dHMN VI or SMARD1
IPNMDB_549 commonName c.2611+1G>T
IPNMDB_549 alias [5'-splice site]+[5'-splice site]
IPNMDB_744 phenoCommon dHMN VI or SMARD1/polymorphism
IPNMDB_744 commonName c.2636C>A
IPNMDB_744 alias [Thr879Lys]+[Thr879Lys]
IPNMDB_552 phenoCommon - (polymorphism)
IPNMDB_552 commonName c.2636C>A
IPNMDB_552 alias Thr879Lys
IPNMDB_553 phenoCommon - (polymorphism)
IPNMDB_553 commonName c.2784+54G>A
IPNMDB_514 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III
IPNMDB_514 commonName c.[2087G>C]+[2204+6T>C]
IPNMDB_514 alias [Arg696Pro]+[5'-splice site (skipping ex20)]
IPNMDB_513 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III
IPNMDB_513 commonName c.2204+6T>C
IPNMDB_513 alias [5'-splice site]+[5'-splice site]
IPNMDB_363 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III
IPNMDB_363 commonName c.[2204+6T>C]+[2741C>T]
IPNMDB_363 alias [5'-splice-site]+[Pro914Leu]
IPNMDB_705 phenoCommon CMT2 / polymorphism
IPNMDB_705 commonName c.146C>T
IPNMDB_705 alias Thr49Met
IPNMDB_712 phenoCommon - (polymorphism)
IPNMDB_712 commonName c.220+38T>C
IPNMDB_407 phenoCommon - (polymorphism)
IPNMDB_407 commonName c.222T>C
IPNMDB_407 alias Ile74Ile
IPNMDB_713 phenoCommon - (polymorphism)
IPNMDB_713 commonName c.274A>G
IPNMDB_713 alias Ile92Val
IPNMDB_707 phenoCommon - (polymorphism)
IPNMDB_707 commonName c.330C>T
IPNMDB_707 alias Asn110Asn
IPNMDB_859 phenoCommon CMT1
IPNMDB_859 commonName c.332C>G
IPNMDB_859 alias Ala111Gly
IPNMDB_640 phenoCommon CMT1
IPNMDB_640 commonName c.334G>A
IPNMDB_640 alias Gly112Ser
IPNMDB_639 phenoCommon CMT1
IPNMDB_639 commonName c.344C>A
IPNMDB_639 alias Thr115Asn
IPNMDB_641 phenoCommon CMT1
IPNMDB_641 commonName c.346T>G
IPNMDB_641 alias Trp116Gly
IPNMDB_704 phenoCommon CMT1
IPNMDB_704 commonName c.364C>G
IPNMDB_704 alias Leu122Val
IPNMDB_714 phenoCommon - (polymorphism)
IPNMDB_714 commonName c.378-29C>T
IPNMDB_861 phenoCommon CMT1
IPNMDB_861 commonName c.403C>A
IPNMDB_861 alias Pro135Thr
IPNMDB_860 phenoCommon CMT1
IPNMDB_860 commonName c.403C>T
IPNMDB_860 alias Pro135Ser
IPNMDB_708 phenoCommon - (polymorphism)
IPNMDB_708 commonName c.477G>A
IPNMDB_708 alias Lys159Lys
IPNMDB_709 phenoCommon - (polymorphism)
IPNMDB_709 commonName c.539C>G
IPNMDB_709 alias 3'UTR
IPNMDB_710 phenoCommon - (polymorphism)
IPNMDB_710 commonName c.585C>T
IPNMDB_710 alias 3'UTR
IPNMDB_711 phenoCommon - (polymorphism)
IPNMDB_711 commonName c.629C>T
IPNMDB_711 alias 3'UTR
IPNMDB_706 phenoCommon CMT1
IPNMDB_706 commonName c.671T>C
IPNMDB_706 alias 3'UTR
IPNMDB_690 phenoCommon CMT2 + muscular dystrophy+ cardiac disease + leuconichia
IPNMDB_690 commonName c.99G>T
IPNMDB_690 alias Glu33Asp
IPNMDB_567 phenoCommon CMT2
IPNMDB_567 commonName c.892C>T
IPNMDB_567 alias [Arg298Cys]+[Arg298Cys]
IPNMDB_938 phenoCommon scapuloperoneal myopathy and axonal neuropathy
IPNMDB_938 commonName c.1711C>T
IPNMDB_938 alias Arg571Cys
IPNMDB_876 phenoCommon CMT2
IPNMDB_876 commonName c.134A>G
IPNMDB_876 alias Gln45Arg
IPNMDB_387 phenoCommon CMT2 + tremor, fatigue
IPNMDB_387 commonName c.205G>T
IPNMDB_387 alias Val69Phe
IPNMDB_383 phenoCommon CMT2
IPNMDB_383 commonName c.227T>C
IPNMDB_383 alias Leu76Pro
IPNMDB_784 phenoCommon CMT2
IPNMDB_784 commonName c.275T>C
IPNMDB_784 alias Leu92Pro
IPNMDB_391 phenoCommon CMT2 (+ optic atrophy + migraine)
IPNMDB_391 commonName c.280C>T
IPNMDB_391 alias Arg94Trp
IPNMDB_386 phenoCommon CMT2 + tremor
IPNMDB_386 commonName c.281G>A
IPNMDB_386 alias Arg94Gln
IPNMDB_785 phenoCommon CMT2
IPNMDB_785 commonName c.299C>G
IPNMDB_785 alias Ala100Gly
IPNMDB_390 phenoCommon CMT2 + ataxia, scoliosis
IPNMDB_390 commonName c.314C>T
IPNMDB_390 alias Thr105Met
IPNMDB_786 phenoCommon CMT2
IPNMDB_786 commonName c.368C>T
IPNMDB_786 alias Pro123Leu
IPNMDB_817 phenoCommon CMT2
IPNMDB_817 commonName c.380G>A
IPNMDB_817 alias Gly127Asp
IPNMDB_839 phenoCommon CMT2
IPNMDB_839 commonName c.380G>T
IPNMDB_839 alias Gly127Val
IPNMDB_844 phenoCommon CMT2 + pyramidal signs
IPNMDB_844 commonName c.493C>G
IPNMDB_844 alias His165Asp
IPNMDB_788 phenoCommon CMT2
IPNMDB_788 commonName c.493C>T
IPNMDB_788 alias His165Tyr
IPNMDB_787 phenoCommon CMT2
IPNMDB_787 commonName c.494A>G
IPNMDB_787 alias His165Arg
IPNMDB_797 phenoCommon CMT2 + optic atrophy
IPNMDB_797 commonName c.617C>T
IPNMDB_797 alias Thr206Ile
IPNMDB_822 phenoCommon CMT2
IPNMDB_822 commonName c.638T>C
IPNMDB_822 alias Ile213Thr
IPNMDB_715 phenoCommon CMT1
IPNMDB_715 commonName c.669T>A
IPNMDB_715 alias Phe223Leu
IPNMDB_716 phenoCommon CMT2
IPNMDB_716 commonName c.707C>T
IPNMDB_716 alias Thr236Met
IPNMDB_717 phenoCommon CMT2
IPNMDB_717 commonName c.730G>A
IPNMDB_717 alias Val244Met
IPNMDB_789 phenoCommon CMT2
IPNMDB_789 commonName c.[748C>T]+[1198C>T]
IPNMDB_789 alias Arg250Trp+Arg400X
IPNMDB_790 phenoCommon CMT2
IPNMDB_790 commonName c.749G>A
IPNMDB_790 alias Arg250Gln
IPNMDB_385 phenoCommon CMT2 + tremor
IPNMDB_385 commonName c.751C>G
IPNMDB_385 alias Pro251Ala
IPNMDB_818 phenoCommon CMT2
IPNMDB_818 commonName c.787T>C
IPNMDB_818 alias Ser263Pro
IPNMDB_821 phenoCommon CMT2
IPNMDB_821 commonName c.818T>G
IPNMDB_821 alias Val273Gly
IPNMDB_389 phenoCommon CMT2
IPNMDB_389 commonName c.821G>A
IPNMDB_389 alias Arg274Gln
IPNMDB_798 phenoCommon CMT2 + optic atrophy
IPNMDB_798 commonName c.827A>G
IPNMDB_798 alias Gln276Arg
IPNMDB_791 phenoCommon CMT2
IPNMDB_791 commonName c.830A>G
IPNMDB_791 alias His277Arg
IPNMDB_384 phenoCommon CMT2
IPNMDB_384 commonName c.839G>A
IPNMDB_384 alias Arg280His
IPNMDB_718 phenoCommon CMT2
IPNMDB_718 commonName c.851T>A
IPNMDB_718 alias Phe284Tyr
IPNMDB_824 phenoCommon - (polymorphism)
IPNMDB_824 commonName c.892G>A
IPNMDB_824 alias Gly298Arg
IPNMDB_823 phenoCommon - (polymorphism)
IPNMDB_823 commonName c.957C>T
IPNMDB_823 alias Gly319Gly
IPNMDB_840 phenoCommon CMT2
IPNMDB_840 commonName c.1040A>T
IPNMDB_840 alias Glu347Val
IPNMDB_846 phenoCommon CMT2
IPNMDB_846 commonName c.1048T>C
IPNMDB_846 alias Ser350Pro
IPNMDB_719 phenoCommon CMT2
IPNMDB_719 commonName c.1071G>C
IPNMDB_719 alias Lys357Asn
IPNMDB_799 phenoCommon CMT2 + optic atrophy
IPNMDB_799 commonName c.1081C>T
IPNMDB_799 alias His361Tyr
IPNMDB_819 phenoCommon CMT2
IPNMDB_819 commonName c.1085C>T
IPNMDB_819 alias Thr362Met
IPNMDB_800 phenoCommon CMT2 + optic atrophy
IPNMDB_800 commonName c.1090C>T
IPNMDB_800 alias Arg364Trp
IPNMDB_820 phenoCommon CMT2
IPNMDB_820 commonName c.1127T>C
IPNMDB_820 alias Met376Thr
IPNMDB_792 phenoCommon CMT2
IPNMDB_792 commonName c.1128G>A
IPNMDB_792 alias Met376Ile
IPNMDB_793 phenoCommon CMT2
IPNMDB_793 commonName c.1134_1142delCCTGCACAT
IPNMDB_793 alias Leu379_Met381del
IPNMDB_919 phenoCommon CMT2
IPNMDB_919 commonName c.1148C>T
IPNMDB_919 alias Ala383Val
IPNMDB_794 phenoCommon CMT2
IPNMDB_794 commonName c.[1157A>C;1158G>T]
IPNMDB_794 alias Gln386Pro
IPNMDB_388 phenoCommon CMT2 + optic atrophy
IPNMDB_388 commonName c.1252C>T
IPNMDB_388 alias Arg418X
IPNMDB_720 phenoCommon CMT2
IPNMDB_720 commonName c.1271A>G
IPNMDB_720 alias Glu424Gly
IPNMDB_841 phenoCommon CMT2 / - (polymorphism)
IPNMDB_841 commonName c.1403G>A
IPNMDB_841 alias Arg468His
IPNMDB_842 phenoCommon CMT2 / - (polymorphism)
IPNMDB_842 commonName c.2113G>A
IPNMDB_842 alias Val705Ile
IPNMDB_795 phenoCommon CMT2
IPNMDB_795 commonName c.2129T>C
IPNMDB_795 alias Leu710Pro
IPNMDB_382 phenoCommon CMT2
IPNMDB_382 commonName c.2219G>C
IPNMDB_382 alias Trp740Ser
IPNMDB_796 phenoCommon CMT2
IPNMDB_796 commonName c.2251C>T
IPNMDB_796 alias Gln751X
IPNMDB_843 phenoCommon CMT2
IPNMDB_843 commonName c.2258_2259insT
IPNMDB_843 alias Leu753fs
IPNMDB_573 phenoCommon - (polymorphism)
IPNMDB_573 commonName c.24C>T
IPNMDB_573 alias Ser8Ser
IPNMDB_849 phenoCommon CMT2
IPNMDB_849 commonName c.59C>T
IPNMDB_849 alias Ser20Phe
IPNMDB_340 phenoCommon CMT1
IPNMDB_340 commonName c.88_90delATCinsGGGGTTTACACC
IPNMDB_340 alias Ile30delinsGlyValTyrThr
IPNMDB_851 phenoCommon DSS
IPNMDB_851 commonName c.89T>C
IPNMDB_851 alias Ile30Thr
IPNMDB_39 phenoCommon CMT1
IPNMDB_39 commonName c.90C>G
IPNMDB_39 alias Ile30Met
IPNMDB_40 phenoCommon CMT1-severe
IPNMDB_40 commonName c.94G>T
IPNMDB_40 alias Val32Phe
IPNMDB_41 phenoCommon CMT1
IPNMDB_41 commonName c.101C>T
IPNMDB_41 alias Thr34Ile
IPNMDB_353 phenoCommon CMT1/2
IPNMDB_353 commonName c.103G>T
IPNMDB_353 alias Asp35Tyr
IPNMDB_831 phenoCommon CMT2 + pain
IPNMDB_831 commonName c.106A>T
IPNMDB_831 alias Arg36Trp
IPNMDB_666 phenoCommon CMT1/2 (+ hearing loss + restless legs)
IPNMDB_666 commonName c.116A>C
IPNMDB_666 alias His39Pro
IPNMDB_376 phenoCommon DSS
IPNMDB_376 commonName c.[123_125delTGT]+[661G>A]
IPNMDB_376 alias [Val42del]+[Ala221Thr]
IPNMDB_42 phenoCommon CMT2
IPNMDB_42 commonName c.131C>T
IPNMDB_42 alias Ser44Phe
IPNMDB_429 phenoCommon - (polymorphism)
IPNMDB_429 commonName c.134G>A
IPNMDB_429 alias Arg45Gln
IPNMDB_832 phenoCommon CMT1
IPNMDB_832 commonName c.143T>C
IPNMDB_832 alias Leu48Pro
IPNMDB_667 phenoCommon CMT1
IPNMDB_667 commonName c.149_175del27
IPNMDB_667 alias Cys50_Val58del
IPNMDB_489 phenoCommon CMT1
IPNMDB_489 commonName c.152C>T
IPNMDB_489 alias Ser51Phe
IPNMDB_339 phenoCommon CMT1
IPNMDB_339 commonName c.160T>C
IPNMDB_339 alias Ser54Pro
IPNMDB_43 phenoCommon CMT1-severe
IPNMDB_43 commonName c.161C>G
IPNMDB_43 alias Ser54Cys
IPNMDB_412 phenoCommon CMT2
IPNMDB_412 commonName c.166G>A
IPNMDB_412 alias Glu56Lys
IPNMDB_44 phenoCommon CMT1
IPNMDB_44 commonName c.172G>T
IPNMDB_44 alias Val58Phe
IPNMDB_670 phenoCommon CMT1
IPNMDB_670 commonName c.173T>A
IPNMDB_670 alias Val58Asp
IPNMDB_415 phenoCommon CMT2
IPNMDB_415 commonName c.178G>C
IPNMDB_415 alias Asp60His
IPNMDB_506 phenoCommon CMT1/2
IPNMDB_506 commonName c.181G>A
IPNMDB_506 alias Asp61Asn
IPNMDB_332 phenoCommon CMT2
IPNMDB_332 commonName c.182A>G
IPNMDB_332 alias Asp61Gly
IPNMDB_45 phenoCommon CMT1 with focally folded myelin
IPNMDB_45 commonName c.184A>T
IPNMDB_45 alias Ile62Phe
IPNMDB_416 phenoCommon CMT2
IPNMDB_416 commonName c.186C>G
IPNMDB_416 alias Ile62Met
IPNMDB_46 phenoCommon DSS
IPNMDB_46 commonName c.188C>G
IPNMDB_46 alias Ser63Cys
IPNMDB_47 phenoCommon CMT1
IPNMDB_47 commonName c.188C>T
IPNMDB_47 alias Ser63Phe
IPNMDB_48 phenoCommon CMT1
IPNMDB_48 commonName c.188_190delCCT
IPNMDB_48 alias Ser63del
IPNMDB_49 phenoCommon CMT1 (htz) / DSS (hmz)
IPNMDB_49 commonName c.190_192delTTC
IPNMDB_49 alias Phe64del
IPNMDB_411 phenoCommon CMT1with focally folded myelin
IPNMDB_411 commonName c.193A>G
IPNMDB_411 alias Thr65Ala
IPNMDB_683 phenoCommon CMT1
IPNMDB_683 commonName c.194C>A
IPNMDB_683 alias Thr65Asn
IPNMDB_626 phenoCommon CMT1
IPNMDB_626 commonName c.194C>T
IPNMDB_626 alias Thr65Ile
IPNMDB_777 phenoCommon CMT1
IPNMDB_777 commonName c.200G>C
IPNMDB_777 alias Arg67Pro
IPNMDB_50 phenoCommon CMT1-severe
IPNMDB_50 commonName c.203A>G
IPNMDB_50 alias Tyr68Cys
IPNMDB_912 phenoCommon CMT2
IPNMDB_912 commonName c.208C>T
IPNMDB_912 alias Pro70Ser
IPNMDB_51 phenoCommon CMT1
IPNMDB_51 commonName c.223delG
IPNMDB_51 alias Asp75fs
IPNMDB_470 phenoCommon CMT2
IPNMDB_470 commonName c.224A>T
IPNMDB_470 alias Asp75Val
IPNMDB_333 phenoCommon CMT2 / polymorphism
IPNMDB_333 commonName c.227C>T
IPNMDB_333 alias Ala76Val
IPNMDB_370 phenoCommon CMT1
IPNMDB_370 commonName c.233C>G
IPNMDB_370 alias Ser78Trp
IPNMDB_52 phenoCommon CMT1-severe (focally folded myelin)
IPNMDB_52 commonName c.233C>T
IPNMDB_52 alias Ser78Leu
IPNMDB_505 phenoCommon CMT1
IPNMDB_505 commonName c.211G>T
IPNMDB_505 alias Glu71X
IPNMDB_338 phenoCommon CMT1
IPNMDB_338 commonName c.[241C>T;337G>T]
IPNMDB_338 alias [His81Tyr;Val113Phe]
IPNMDB_53 phenoCommon CMT1-severe (+ trigeminal nerve thickening)
IPNMDB_53 commonName c.242A>G
IPNMDB_53 alias His81Arg
IPNMDB_850 phenoCommon CMT2
IPNMDB_850 commonName c.244T>C
IPNMDB_850 alias Tyr82His
IPNMDB_54 phenoCommon CMT1 / DSS
IPNMDB_54 commonName c.245A>G
IPNMDB_54 alias Tyr82Cys
IPNMDB_55 phenoCommon DSS
IPNMDB_55 commonName c.258_265delACCCTACAinsCCTCT
IPNMDB_55 alias Gln86_Ile89delinsHisLeuPhe
IPNMDB_371 phenoCommon CMT2
IPNMDB_371 commonName c.266T>A+274G>A+486C>G
IPNMDB_371 alias Ile89Asn+Val92Met+Ile162Met
IPNMDB_56 phenoCommon CMT1
IPNMDB_56 commonName c.270C>A
IPNMDB_56 alias Asp90Glu
IPNMDB_97 phenoCommon - (polymorphism)
IPNMDB_97 commonName c.276G>A
IPNMDB_97 alias Val92Val
IPNMDB_57 phenoCommon CMT1
IPNMDB_57 commonName c.278G>A
IPNMDB_57 alias Gly93Glu
IPNMDB_58 phenoCommon CMT1
IPNMDB_58 commonName c.286A>G
IPNMDB_58 alias Lys96Glu
IPNMDB_542 phenoCommon CMT2 and deafness and pupillary abnormalities
IPNMDB_542 commonName c.290A>T
IPNMDB_542 alias Glu97Val
IPNMDB_61 phenoCommon CMT1
IPNMDB_61 commonName c.292C>A
IPNMDB_61 alias Arg98Ser
IPNMDB_59 phenoCommon CMT1-severe / DSS
IPNMDB_59 commonName c.292C>T
IPNMDB_59 alias Arg98Cys
IPNMDB_60 phenoCommon CMT1
IPNMDB_60 commonName c.293G>A
IPNMDB_60 alias Arg98His
IPNMDB_62 phenoCommon CMT1
IPNMDB_62 commonName c.293G>C
IPNMDB_62 alias Arg98Pro
IPNMDB_63 phenoCommon CMT1 / CIDP
IPNMDB_63 commonName c.296T>C
IPNMDB_63 alias Ile99Thr
IPNMDB_64 phenoCommon CMT1
IPNMDB_64 commonName c.303G>C
IPNMDB_64 alias Trp101Cys
IPNMDB_65 phenoCommon CMT1 (htz) / DSS (hmz)
IPNMDB_65 commonName c.306delA
IPNMDB_65 alias Val102fs
IPNMDB_578 phenoCommon CMT1
IPNMDB_578 commonName c.308G>A
IPNMDB_578 alias Gly103Glu
IPNMDB_901 phenoCommon CMT2 + hearing impairment
IPNMDB_901 commonName c.313C>A
IPNMDB_901 alias Pro105Thr
IPNMDB_421 phenoCommon CMT1
IPNMDB_421 commonName c.325G>A
IPNMDB_421 alias Asp109Asn
IPNMDB_414 phenoCommon CMT2
IPNMDB_414 commonName c.327T>A
IPNMDB_414 alias Asp109Glu
IPNMDB_560 phenoCommon DSS
IPNMDB_560 commonName c.329G>A
IPNMDB_560 alias Gly110Asp
IPNMDB_66 phenoCommon CMT1-severe
IPNMDB_66 commonName c.335T>C
IPNMDB_66 alias Ile112Thr
IPNMDB_627 phenoCommon - (polymorphism)
IPNMDB_627 commonName c.337G>A
IPNMDB_627 alias Val113Ile
IPNMDB_67 phenoCommon DSS
IPNMDB_67 commonName c.[341T>C;346A>C;382G>A]
IPNMDB_67 alias [Ile114Thr;Asn116His;Asp128Asn]
IPNMDB_722 phenoCommon CMT2
IPNMDB_722 commonName c.352G>A
IPNMDB_722 alias Asp118Asn
IPNMDB_68 phenoCommon DSS
IPNMDB_68 commonName c.355_356insTCTACT
IPNMDB_68 alias Asp118_Tyr119insPheTyr
IPNMDB_331 phenoCommon CMT2
IPNMDB_331 commonName c.356A>G
IPNMDB_331 alias Tyr119Cys
IPNMDB_69 phenoCommon CMT1
IPNMDB_69 commonName c.365A>G
IPNMDB_69 alias Asn122Ser
IPNMDB_372 phenoCommon DSS
IPNMDB_372 commonName c.367G>T
IPNMDB_372 alias Gly123Cys
IPNMDB_776 phenoCommon CMT1
IPNMDB_776 commonName c.367G>A
IPNMDB_776 alias Gly123Ser
IPNMDB_413 phenoCommon CH
IPNMDB_413 commonName c.371C>A
IPNMDB_413 alias Thr124Lys
IPNMDB_70 phenoCommon CMT1/2 (+ pupillary abnormalities + deafness + chronic cough)
IPNMDB_70 commonName c.371C>T
IPNMDB_70 alias Thr124Met
IPNMDB_71 phenoCommon DSS
IPNMDB_71 commonName c.372_377delGTTCAC
IPNMDB_71 alias Phe125_Thr126del
IPNMDB_72 phenoCommon DSS
IPNMDB_72 commonName c.380G>A
IPNMDB_72 alias Cys127Tyr
IPNMDB_418 phenoCommon CMT1
IPNMDB_418 commonName c.382G>A
IPNMDB_418 alias Asp128Asn
IPNMDB_73 phenoCommon CMT1
IPNMDB_73 commonName c.384C>G
IPNMDB_73 alias Asp128Glu
IPNMDB_74 phenoCommon CMT1 / DSS
IPNMDB_74 commonName c.389A>G
IPNMDB_74 alias Lys130Arg
IPNMDB_424 phenoCommon CMT1 (Roussy-Lévy syndrome) (+ focally folded myelin sheaths)
IPNMDB_424 commonName c.393C>A
IPNMDB_424 alias Asn131Lys
IPNMDB_75 phenoCommon CMT1
IPNMDB_75 commonName c.395C>T
IPNMDB_75 alias Pro132Leu
IPNMDB_77 phenoCommon CMT1
IPNMDB_77 commonName c.400G>A
IPNMDB_77 alias Asp134Asn
IPNMDB_341 phenoCommon CMT1
IPNMDB_341 commonName c.401A>G
IPNMDB_341 alias Asp134Gly
IPNMDB_76 phenoCommon CMT1
IPNMDB_76 commonName c.402C>A
IPNMDB_76 alias Asp134Glu
IPNMDB_78 phenoCommon CMT1
IPNMDB_78 commonName c.403A>C
IPNMDB_78 alias Ile135Leu
IPNMDB_79 phenoCommon CMT1 / DSS
IPNMDB_79 commonName c.404T>C
IPNMDB_79 alias Ile135Thr
IPNMDB_373 phenoCommon DSS
IPNMDB_373 commonName c.407T>A
IPNMDB_373 alias Val136Glu
IPNMDB_80 phenoCommon CMT1
IPNMDB_80 commonName c.409G>A
IPNMDB_80 alias Gly137Ser
IPNMDB_342 phenoCommon CMT1
IPNMDB_342 commonName c.414G>C
IPNMDB_342 alias Lys138Asn
IPNMDB_343 phenoCommon CMT1
IPNMDB_343 commonName c.416C>A
IPNMDB_343 alias Thr139Asn
IPNMDB_575 phenoCommon CMT1
IPNMDB_575 commonName c.418T>A
IPNMDB_575 alias Ser140Thr
IPNMDB_490 phenoCommon CMT2
IPNMDB_490 commonName c.421C>T
IPNMDB_490 alias Gln141X
IPNMDB_81 phenoCommon CMT1
IPNMDB_81 commonName c.428C>T
IPNMDB_81 alias Thr143Met
IPNMDB_362 phenoCommon CMT1/2 (+ deafness) (+pupillary abnormalities in hmz)
IPNMDB_362 commonName c.434A>C
IPNMDB_362 alias Tyr145Ser
IPNMDB_439 phenoCommon CMT1
IPNMDB_439 commonName c.436G>T
IPNMDB_439 alias Val146Phe
IPNMDB_82 phenoCommon CMT1
IPNMDB_82 commonName c.449-1G>C
IPNMDB_82 alias 3'-splice site
IPNMDB_723 phenoCommon CMT1
IPNMDB_723 commonName c.449-1G>T
IPNMDB_723 alias 3' splice site
IPNMDB_83 phenoCommon CMT1
IPNMDB_83 commonName c.462C>A
IPNMDB_83 alias Tyr154X
IPNMDB_84 phenoCommon CMT1
IPNMDB_84 commonName c.487G>A
IPNMDB_84 alias Gly163Arg
IPNMDB_86 phenoCommon DSS
IPNMDB_86 commonName c.[496delC;499G>C]
IPNMDB_86 alias Leu166fs
IPNMDB_85 phenoCommon CMT1 / DSS / CH
IPNMDB_85 commonName c.499G>A
IPNMDB_85 alias Gly167Arg
IPNMDB_426 phenoCommon DSS
IPNMDB_426 commonName c.506delT
IPNMDB_426 alias Val169fs
IPNMDB_88 phenoCommon DSS
IPNMDB_88 commonName c.522_525delGCTT
IPNMDB_88 alias Leu174fs
IPNMDB_89 phenoCommon CMT1
IPNMDB_89 commonName c.543C>G
IPNMDB_89 alias Tyr181X
IPNMDB_922 phenoCommon CH
IPNMDB_922 commonName c.549_550insG
IPNMDB_922 alias Leu184fs
IPNMDB_369 phenoCommon CH + cranial nerve dysfunction + respiratory failure + hypertrophic cardiomyopathy
IPNMDB_369 commonName c.550_552delCTAinsG
IPNMDB_369 alias Leu184fs
IPNMDB_90 phenoCommon CMT1
IPNMDB_90 commonName c.554delG
IPNMDB_90 alias Arg185fs
IPNMDB_87 phenoCommon DSS
IPNMDB_87 commonName c.563_564insAGGC
IPNMDB_87 alias Ala188fs
IPNMDB_699 phenoCommon CMT1
IPNMDB_699 commonName c.570delG
IPNMDB_699 alias Leu190fs
IPNMDB_848 phenoCommon CMT1
IPNMDB_848 commonName c.584+2T>G
IPNMDB_848 alias 5'-splice site
IPNMDB_98 phenoCommon - (polymorphism)
IPNMDB_98 commonName c.600G>A
IPNMDB_98 alias Gly200Gly
IPNMDB_91 phenoCommon CMT1
IPNMDB_91 commonName c.614_615insGGGAAATTGCACAAGCC
IPNMDB_91 alias Pro205fs
IPNMDB_430 phenoCommon CMT1
IPNMDB_430 commonName c.616G>T
IPNMDB_430 alias Gly206X
IPNMDB_557 phenoCommon -(polymorphism
IPNMDB_557 commonName c.637G>C
IPNMDB_557 alias Gly213Arg
IPNMDB_92 phenoCommon CH
IPNMDB_92 commonName c.643C>T
IPNMDB_92 alias Gln215X
IPNMDB_684 phenoCommon CMT1
IPNMDB_684 commonName c.645+1G>T
IPNMDB_684 alias 5'-splice site
IPNMDB_93 phenoCommon DSS
IPNMDB_93 commonName c.662_663insGC
IPNMDB_93 alias Ala221fs
IPNMDB_94 phenoCommon CMT1
IPNMDB_94 commonName c.676_677insCA
IPNMDB_94 alias Ser226fs
IPNMDB_99 phenoCommon - (polymorphism)
IPNMDB_99 commonName c.684C>T
IPNMDB_99 alias Ser228Ser
IPNMDB_95 phenoCommon CMT1-severe
IPNMDB_95 commonName c.699_702delTGAG
IPNMDB_95 alias Ser233fs
IPNMDB_576 phenoCommon CMT1/CMT2
IPNMDB_576 commonName c.706_708delAAG
IPNMDB_576 alias Lys236del
IPNMDB_724 phenoCommon CMT2
IPNMDB_724 commonName c.706A>G
IPNMDB_724 alias Lys236Glu
IPNMDB_100 phenoCommon - (polymorphism)
IPNMDB_100 commonName c.731G>T
IPNMDB_100 alias Arg244Leu
IPNMDB_493 phenoCommon - (polymorphism)
IPNMDB_493 commonName c.8C>A
IPNMDB_493 alias Thr3Lys
IPNMDB_498 commonName c.[298G>A]+[?]
IPNMDB_498 alias [Ala100Thr]+[?]
IPNMDB_502 phenoCommon CMT4B
IPNMDB_502 commonName c.308G>A
IPNMDB_502 alias [Gly103Glu]+[Gly103Glu]
IPNMDB_503 phenoCommon CMT4B
IPNMDB_503 commonName c.324delG
IPNMDB_503 alias [Thr108fs]+[Thr108fs]
IPNMDB_735 phenoCommon CMT4B
IPNMDB_735 commonName c.681_682ins446
IPNMDB_735 alias Thr228fs
IPNMDB_736 phenoCommon CMT4B
IPNMDB_736 commonName c.[841_844delATCA]+[?]
IPNMDB_736 alias [Ile281fs]+[?]
IPNMDB_634 phenoCommon CMT4B
IPNMDB_634 commonName c.847C>T
IPNMDB_634 alias [Arg283Trp]+[Arg283Trp]
IPNMDB_495 phenoCommon - (polymorphism)
IPNMDB_495 commonName c.1131T>C
IPNMDB_495 alias Thr377Thr
IPNMDB_496 phenoCommon - (polymorphism)
IPNMDB_496 commonName c.1233G>A
IPNMDB_496 alias Thr411Thr
IPNMDB_501 phenoCommon - (polymorphism)
IPNMDB_501 commonName c.1233G>T
IPNMDB_501 alias Thr411Thr
IPNMDB_432 phenoCommon CMT4B
IPNMDB_432 commonName c.1276C>T
IPNMDB_432 alias [Gln426X]+[Gln426X]
IPNMDB_434 phenoCommon CMT4B
IPNMDB_434 commonName c.1444C>T
IPNMDB_434 alias [Gln482X]+[Arg477X]
IPNMDB_497 phenoCommon - (polymorphism)
IPNMDB_497 commonName c.1504G>C
IPNMDB_497 alias Glu502Gln
IPNMDB_499 phenoCommon CH
IPNMDB_499 commonName c.[1634A>G]+[?]
IPNMDB_499 alias [Asn545Ser]+[?]
IPNMDB_779 phenoCommon CMT4B
IPNMDB_779 commonName c.1749G>A
IPNMDB_779 alias Trp583X
IPNMDB_500 phenoCommon CH
IPNMDB_500 commonName c.[1805C>G]+[?]
IPNMDB_500 alias [Ala602Gly]+[?]
IPNMDB_436 phenoCommon HMSN-L
IPNMDB_436 commonName c.442C>T
IPNMDB_436 alias [Arg148X]+[Arg148X]
IPNMDB_33 phenoCommon HMSN-L
IPNMDB_33 commonName c.538-1G>A
IPNMDB_33 alias [3'-splice site]+[3'-splice site]
IPNMDB_594 phenoCommon unspecified CMT
IPNMDB_594 commonName c.[19G>A]+[23C>G]
IPNMDB_594 alias [Glu7Lys]+[Pro8Arg]
IPNMDB_520 phenoCommon CMT2
IPNMDB_520 commonName c.[22C>A;23C>G]
IPNMDB_520 alias Pro8Arg
IPNMDB_597 phenoCommon CMT1
IPNMDB_597 commonName c.23C>A
IPNMDB_597 alias Pro8Gln
IPNMDB_595 phenoCommon CMT1 or CMT1/2
IPNMDB_595 commonName c.23C>G
IPNMDB_595 alias Pro8Arg
IPNMDB_596 phenoCommon CMT1
IPNMDB_596 commonName c.23C>T
IPNMDB_596 alias Pro8Leu
IPNMDB_863 phenoCommon CMT1
IPNMDB_863 commonName c.48_60dupGCGCTACGTGGAG
IPNMDB_863 alias Thr21fs
IPNMDB_586 phenoCommon CMT1
IPNMDB_586 commonName c.64C>A
IPNMDB_586 alias Pro22Thr
IPNMDB_583 phenoCommon CMT1/2
IPNMDB_583 commonName c.64C>T
IPNMDB_583 alias Pro22Ser
IPNMDB_602 phenoCommon - (polymorphism)
IPNMDB_602 commonName c.192G>A
IPNMDB_602 alias Leu64Leu
IPNMDB_591 phenoCommon - (polymorphism)
IPNMDB_591 commonName c.227T>C
IPNMDB_591 alias Val76Ala
IPNMDB_598 phenoCommon CMT1
IPNMDB_598 commonName c.268G>A
IPNMDB_598 alias Glu90Lys
IPNMDB_592 phenoCommon - (polymorphism)
IPNMDB_592 commonName c.279G>A
IPNMDB_592 alias Gln93Gln
IPNMDB_913 phenoCommon CMT1/2
IPNMDB_913 commonName c.281T>C
IPNMDB_913 alias Leu94Pro
IPNMDB_588 phenoCommon CMT1
IPNMDB_588 commonName c.293A>G
IPNMDB_588 alias Asn98Ser
IPNMDB_603 phenoCommon - (polymorphism)
IPNMDB_603 commonName c.423G>A
IPNMDB_603 alias Gln141Gln
IPNMDB_589 phenoCommon unspecified CMT
IPNMDB_589 commonName c.446C>T
IPNMDB_589 alias Ala149Val
IPNMDB_816 phenoCommon - (polymorphism)
IPNMDB_816 commonName c.639C>G
IPNMDB_816 alias Ile213Met
IPNMDB_604 phenoCommon - (polymorphism)
IPNMDB_604 commonName c.667C>T
IPNMDB_604 alias Leu223Leu
IPNMDB_605 phenoCommon - (polymorphism)
IPNMDB_605 commonName c.720C>T
IPNMDB_605 alias Tyr240Tyr
IPNMDB_437 phenoCommon CMT2
IPNMDB_437 commonName c.995A>C
IPNMDB_437 alias Gln332Pro
IPNMDB_728 phenoCommon CMT2
IPNMDB_728 commonName c.998T>C
IPNMDB_728 alias Leu333Pro
IPNMDB_417 phenoCommon CMT1 / CMT2
IPNMDB_417 commonName c.1186G>A
IPNMDB_417 alias Glu396Lys
IPNMDB_606 phenoCommon - (polymorphism)
IPNMDB_606 commonName c.1212C>T
IPNMDB_606 alias Ser404Ser
IPNMDB_607 phenoCommon - (polymorphism)
IPNMDB_607 commonName c.1402G>A
IPNMDB_607 alias Asp468Asn
IPNMDB_608 phenoCommon - (polymorphism)
IPNMDB_608 commonName c.1458C>T
IPNMDB_608 alias Ala486Ala
IPNMDB_593 phenoCommon - (polymorphism)
IPNMDB_593 commonName c.1492G>A
IPNMDB_593 alias Ala498Thr
IPNMDB_748 phenoCommon -(polymorphism)
IPNMDB_748 commonName c.1573_1574insG
IPNMDB_748 alias Glu525fs
IPNMDB_600 phenoCommon CMT1 / polymorphism
IPNMDB_600 commonName c.1579_1581delGAG
IPNMDB_600 alias Glu527del
IPNMDB_396 phenoCommon HSAN V
IPNMDB_396 commonName c.661C>T
IPNMDB_396 alias [Arg221Trp]+[Arg221Trp]
IPNMDB_442 phenoCommon CIPA or HSN IV (H406Y + G613V are polymorphisms)
IPNMDB_442 commonName c.[25C>T;1810C>T;1838 G>T]+[25C>T; 1810C>T; 1838 G>T]
IPNMDB_442 alias [Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val]
IPNMDB_449 phenoCommon CIPA or HSN IV
IPNMDB_449 commonName c.200delA
IPNMDB_449 alias [Asn67fs]+[Asn67fs]
IPNMDB_957 phenoCommon HSN IV
IPNMDB_957 commonName c.207_208delTG
IPNMDB_957 alias [Thr69fs]+[Thr69fs]
IPNMDB_443 phenoCommon CIPA or HSN IV (R85S is a polymorphism)
IPNMDB_443 commonName c.253C>A; 429-1G>C
IPNMDB_443 alias [Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site]
IPNMDB_454 phenoCommon CIPA or HSN IV
IPNMDB_454 commonName c.278T>C
IPNMDB_454 alias Leu93Pro
IPNMDB_956 phenoCommon HSN IV
IPNMDB_956 commonName c.[287+2_3insT]+[2155G>A]
IPNMDB_956 alias [5'-splice site]+[Glu719Lys]
IPNMDB_958 phenoCommon HSN IV
IPNMDB_958 commonName c.354-359+3delTCGCCTGTG
IPNMDB_806 phenoCommon CIPA or HSN IV
IPNMDB_806 commonName c.359+5G>T
IPNMDB_806 alias 5'-splice site (skipping exon 3 and skipping exons 2+3)
IPNMDB_455 phenoCommon CIPA or HSN IV
IPNMDB_455 commonName c.391_392delTC
IPNMDB_455 alias [Ser131fs]+[Ser131fs]
IPNMDB_456 phenoCommon CIPA or HSN IV
IPNMDB_456 commonName c.490G>T
IPNMDB_456 alias Glu164X
IPNMDB_691 phenoCommon CIPA or HSN IV
IPNMDB_691 commonName c.526C>T
IPNMDB_691 alias [Gln176X]+[Gln176X]
IPNMDB_805 phenoCommon CIPA or HSN IV
IPNMDB_805 commonName c.543delG
IPNMDB_805 alias Gly181fs
IPNMDB_541 phenoCommon CIPA or HSN IV (H604Y + G613V are polymorphisms)
IPNMDB_541 commonName c.[574+1G>A]+[1810C>T;1838G>T;1843G>T;1849G>T]
IPNMDB_541 alias [5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu]
IPNMDB_964 phenoCommon HSN IV
IPNMDB_964 commonName c.496G>T
IPNMDB_964 alias [Gly166X]+[Gly166X]
IPNMDB_453 phenoCommon CIPA or HSN IV
IPNMDB_453 commonName c.[638T>C]+[924_930delGCCGGCA]
IPNMDB_453 alias [Leu213Pro]+[Gln308fs]
IPNMDB_700 phenoCommon CIPA or HSN IV + tooth loss and palmar hyperkeratosis
IPNMDB_700 commonName c.[638T>C]+[1556delG]
IPNMDB_700 alias [Leu213Pro]+[Gly519fs
IPNMDB_697 phenoCommon HS(A)N
IPNMDB_697 commonName c.[717+1G>C]+[2144T>C]
IPNMDB_697 alias [5'-splice site]+[Val715Ala]
IPNMDB_451 phenoCommon CIPA or HSN IV
IPNMDB_451 commonName c.850+1G>A
IPNMDB_451 alias [5'-splice site]+[5'-splice site]
IPNMDB_962 phenoCommon HSN IV
IPNMDB_962 commonName c.722_723insC
IPNMDB_962 alias [Ser241fs]+[Ser241fs]
IPNMDB_457 phenoCommon CIPA or HSN IV
IPNMDB_457 commonName c.851-33T>A
IPNMDB_535 phenoCommon HSAN V
IPNMDB_535 commonName c.1076A>G
IPNMDB_535 alias [Tyr359Cys]+[Tyr359Cys]
IPNMDB_458 phenoCommon CIPA or HSN IV
IPNMDB_458 commonName c.1077C>A
IPNMDB_458 alias Tyr359X
IPNMDB_695 phenoCommon CIPA or HSN IV
IPNMDB_695 commonName c.1196-1G>A
IPNMDB_695 alias [3'-splice site]+[3'-splice site]
IPNMDB_955 phenoCommon HSN IV
IPNMDB_955 commonName c.[1218delC]+[851-33T>A]
IPNMDB_693 phenoCommon CIPA or HSN IV
IPNMDB_693 commonName c.1522_1523delCG
IPNMDB_693 alias [Arg508fs]+[Arg508fs]
IPNMDB_692 phenoCommon CIPA or HSN IV
IPNMDB_692 commonName c.1531_1532insGGACATCG
IPNMDB_692 alias [Val511fs]+[Val511fs]
IPNMDB_835 phenoCommon CIPA or HSN IV
IPNMDB_835 commonName c.[1555G>C]+[2303C>T]
IPNMDB_835 alias [Gly519Arg]+[Pro768Leu]
IPNMDB_459 phenoCommon CIPA or HSN IV
IPNMDB_459 commonName c.1564G>A
IPNMDB_459 alias Gly522Arg
IPNMDB_966 phenoCommon HSN IV
IPNMDB_966 commonName c.1633-1G>T
IPNMDB_966 alias [3'-splice site]+[3'-splice site]
IPNMDB_444 phenoCommon CIPA or HSN IV
IPNMDB_444 commonName c.1660delC
IPNMDB_444 alias [Arg554fs]+[Arg554fs]
IPNMDB_960 phenoCommon HSN IV
IPNMDB_960 commonName c.[1672C>T]+[2150T>G]
IPNMDB_960 alias [Gln558X]+[Leu717Arg]
IPNMDB_959 phenoCommon HSN IV
IPNMDB_959 commonName c.1715T>G
IPNMDB_959 alias [Ile572Ser]+[Ile572Ser]
IPNMDB_445 phenoCommon CIPA or HSN IV
IPNMDB_445 commonName c.1729G>C
IPNMDB_445 alias [Gly577Arg]+[Gly577Arg]
IPNMDB_460 phenoCommon CIPA or HSN IV
IPNMDB_460 commonName c.1754delT
IPNMDB_460 alias Leu585fs
IPNMDB_461 phenoCommon CIPA or HSN IV
IPNMDB_461 commonName c.1804C>T
IPNMDB_461 alias Arg602X
IPNMDB_538 phenoCommon - (polymorphism)
IPNMDB_538 commonName c.1838G>T
IPNMDB_538 alias [Gly613Val]+[Gly613Val]
IPNMDB_1 phenoCommon CIPA or HSN IV
IPNMDB_1 commonName c.1860_1861insT
IPNMDB_1 alias [Pro621fs]+[Pro621fs]
IPNMDB_804 phenoCommon CIPA or HSN IV
IPNMDB_804 commonName c.1877_1878insA
IPNMDB_804 alias Gln626fs
IPNMDB_536 phenoCommon - (polymorphism)
IPNMDB_536 commonName c.1887C>T
IPNMDB_536 alias Ala629Ala
IPNMDB_450 phenoCommon CIPA or HSN IV
IPNMDB_450 commonName c.1945C>T
IPNMDB_450 alias [Arg649Trp]+[Arg649Trp]
IPNMDB_462 phenoCommon CIPA or HSN IV
IPNMDB_462 commonName c.1960C>T
IPNMDB_462 alias Arg654Cys
IPNMDB_463 phenoCommon CIPA or HSN IV
IPNMDB_463 commonName c.2002G>T
IPNMDB_463 alias Asp674Tyr
IPNMDB_446 phenoCommon CIPA or HSN IV
IPNMDB_446 commonName c.2046+3A>C
IPNMDB_446 alias [5'-splice site]+[5'-splice site]
IPNMDB_540 phenoCommon - (polymorphism)
IPNMDB_540 commonName c.2052A>G
IPNMDB_540 alias [Gly684Gly]+[Gly684Gly]
IPNMDB_539 phenoCommon CIPA or HSN IV
IPNMDB_539 commonName c.2084C>T
IPNMDB_539 alias [Pro695Leu]+[Pro695Leu]
IPNMDB_452 phenoCommon CIPA or HSN IV
IPNMDB_452 commonName c.2140G>A
IPNMDB_452 alias [Gly714Ser]+[Gly714Ser]
IPNMDB_694 phenoCommon CIPA or HSN IV
IPNMDB_694 commonName c.[2271C>G]+[2281C>T]
IPNMDB_694 alias [Tyr757X]+[Arg761Trp]
IPNMDB_696 phenoCommon CIPA or HSN IV
IPNMDB_696 commonName c.2281C>T
IPNMDB_696 alias [Arg761Trp]+[Arg761Trp]
IPNMDB_965 phenoCommon HSN IV
IPNMDB_965 commonName c.2308C>T
IPNMDB_965 alias [Gln770X]+[Gln770X]
IPNMDB_464 phenoCommon CIPA or HSN IV
IPNMDB_464 commonName c.2327_2328insT
IPNMDB_464 alias Asp776fs
IPNMDB_447 phenoCommon CIPA or HSN IV
IPNMDB_447 commonName c.2339G>C
IPNMDB_447 alias [Arg780Pro]+[Arg780Pro]
IPNMDB_931 phenoCommon Autosomal recessive lower motor neuron disease with childhood onset
IPNMDB_931 commonName c.1940T>C
IPNMDB_931 alias [Phe647Ser]+[Phe647Ser]
IPNMDB_614 phenoCommon - (polymorphism)
IPNMDB_614 commonName c.-141C>G
IPNMDB_619 phenoCommon - (polymorphism)
IPNMDB_619 commonName c.-134G>A
IPNMDB_620 phenoCommon - (polymorphism)
IPNMDB_620 commonName c.-40G>A
IPNMDB_914 phenoCommon HNPP
IPNMDB_914 commonName c.11delT
IPNMDB_914 alias Leu4fs
IPNMDB_2 phenoCommon HNPP
IPNMDB_2 commonName c.19_20delAG
IPNMDB_2 alias Leu7fs
IPNMDB_3 phenoCommon DSS
IPNMDB_3 commonName c.36C>A
IPNMDB_3 alias His12Gln
IPNMDB_4 phenoCommon CMT1
IPNMDB_4 commonName c.47T>C
IPNMDB_4 alias Leu16Pro
IPNMDB_5 phenoCommon DSS
IPNMDB_5 commonName c.56T>C
IPNMDB_5 alias Leu19Pro
IPNMDB_751 phenoCommon CMT1 / HNPP
IPNMDB_751 commonName c.65C>T
IPNMDB_751 alias Ser22Phe
IPNMDB_743 phenoCommon CMT1 + deafness
IPNMDB_743 commonName c.68C>G
IPNMDB_743 alias Thr23Arg
IPNMDB_348 phenoCommon CMT1
IPNMDB_348 commonName c.73_78delGTCAGC
IPNMDB_348 alias Val25_Ser26del
IPNMDB_6 phenoCommon HNPP
IPNMDB_6 commonName c.78+1G>T
IPNMDB_6 alias 5'-splice site
IPNMDB_374 phenoCommon CMT1 + deafness
IPNMDB_374 commonName c.82T>C
IPNMDB_374 alias Trp28Arg
IPNMDB_34 phenoCommon - (polymorphism)
IPNMDB_34 commonName c.87C>T
IPNMDB_34 alias Ile29Ile
IPNMDB_7 phenoCommon HNPP
IPNMDB_7 commonName c.88G>A
IPNMDB_7 alias Val30Met
IPNMDB_337 phenoCommon CMT1
IPNMDB_337 commonName c.110A>T
IPNMDB_337 alias Asp37Val
IPNMDB_853 phenoCommon HNPP
IPNMDB_853 commonName c.178+1G>C
IPNMDB_853 alias 5'-splice site
IPNMDB_504 phenoCommon HNPP
IPNMDB_504 commonName c.179-1G>C
IPNMDB_504 alias 3'-splice site
IPNMDB_555 phenoCommon CMT1
IPNMDB_555 commonName c.179-2A>G
IPNMDB_555 alias 3'-splice site
IPNMDB_8 phenoCommon HNPP
IPNMDB_8 commonName c.183G>A
IPNMDB_8 alias Trp61X
IPNMDB_615 phenoCommon CMT1 + hearing impairment
IPNMDB_615 commonName c.193G>T
IPNMDB_615 alias Val65Phe
IPNMDB_364 phenoCommon HNPP
IPNMDB_364 commonName c.199G>A
IPNMDB_364 alias Ala67Thr
IPNMDB_9 phenoCommon CMT1 + deafness
IPNMDB_9 commonName c.199G>C
IPNMDB_9 alias Ala67Pro
IPNMDB_10 phenoCommon DSS
IPNMDB_10 commonName c.206T>A
IPNMDB_10 alias Met69Lys
IPNMDB_375 phenoCommon CMT1 / DSS (+vestibular loss + hearing loss)
IPNMDB_375 commonName c.212T>C
IPNMDB_375 alias Leu71Pro
IPNMDB_13 phenoCommon DSS
IPNMDB_13 commonName c.214T>C
IPNMDB_13 alias Ser72Pro
IPNMDB_12 phenoCommon DSS
IPNMDB_12 commonName c.215C>G
IPNMDB_12 alias Ser72Trp
IPNMDB_11 phenoCommon CMT1 / DSS (+ deafness) / CH
IPNMDB_11 commonName c.215C>T
IPNMDB_11 alias Ser72Leu
IPNMDB_14 phenoCommon DSS (+ deafness)
IPNMDB_14 commonName c.227G>T
IPNMDB_14 alias Ser76Ile
IPNMDB_16 phenoCommon DSS
IPNMDB_16 commonName c.235T>C
IPNMDB_16 alias Ser79Pro
IPNMDB_15 phenoCommon CMT1
IPNMDB_15 commonName c.236C>G
IPNMDB_15 alias Ser79Cys
IPNMDB_17 phenoCommon DSS
IPNMDB_17 commonName c.238_239delCT
IPNMDB_17 alias Leu80fs
IPNMDB_18 phenoCommon DSS
IPNMDB_18 commonName c.239T>C
IPNMDB_18 alias Leu80Pro
IPNMDB_19 phenoCommon DSS (with multiple cranial involvement)
IPNMDB_19 commonName c.251_253delTCT
IPNMDB_19 alias Phe84del
IPNMDB_621 phenoCommon CMT1
IPNMDB_621 commonName c.256C>T
IPNMDB_621 alias Gln86X
IPNMDB_20 phenoCommon CMT1
IPNMDB_20 commonName c.277G>C
IPNMDB_20 alias Gly93Arg
IPNMDB_22 phenoCommon CMT1 / DSS
IPNMDB_22 commonName c.281delG
IPNMDB_22 alias Gly94fs
IPNMDB_21 phenoCommon HNPP
IPNMDB_21 commonName c.281_282insG
IPNMDB_21 alias Gly94fs
IPNMDB_23 phenoCommon DSS
IPNMDB_23 commonName c.298G>A
IPNMDB_23 alias Gly100Arg
IPNMDB_24 phenoCommon DSS
IPNMDB_24 commonName c.299G>A
IPNMDB_24 alias Gly100Glu
IPNMDB_622 phenoCommon CMT1
IPNMDB_622 commonName c.312delT
IPNMDB_622 alias Ile104fs
IPNMDB_25 phenoCommon CMT1
IPNMDB_25 commonName c.314T>G
IPNMDB_25 alias Leu105Arg
IPNMDB_721 phenoCommon CMT1
IPNMDB_721 commonName c.318delT
IPNMDB_721 alias Ala106fs
IPNMDB_26 phenoCommon CMT1
IPNMDB_26 commonName c.319+1G>A
IPNMDB_26 alias 5'-splice site
IPNMDB_27 phenoCommon CMT1
IPNMDB_27 commonName c.320G>T
IPNMDB_27 alias Gly107Val
IPNMDB_336 phenoCommon CH
IPNMDB_336 commonName c.325T>C
IPNMDB_336 alias Cys109Arg
IPNMDB_703 phenoCommon CMT1
IPNMDB_703 commonName c.327C>A
IPNMDB_703 alias Cys109X
IPNMDB_35 phenoCommon - (polymorphism)
IPNMDB_35 commonName c.327C>T
IPNMDB_35 alias Cys109Cys
IPNMDB_635 phenoCommon CMT1 + deafness
IPNMDB_635 commonName c.343_354delGCCATCTACACG
IPNMDB_635 alias Ala115_Thr118del
IPNMDB_28 phenoCommon CMT1 (hemizygous) / polymorphism (heterozygous)
IPNMDB_28 commonName c.353C>T
IPNMDB_28 alias Thr118Met
IPNMDB_854 phenoCommon CMT2
IPNMDB_854 commonName c.353C>T
IPNMDB_854 alias [Thr118Met]+[Thr118Met]
IPNMDB_508 phenoCommon HNPP
IPNMDB_508 commonName c.364_365delCC
IPNMDB_508 alias Pro122fs
IPNMDB_419 phenoCommon HNPP
IPNMDB_419 commonName c.372G>A
IPNMDB_419 alias Trp124X
IPNMDB_37 phenoCommon - (polymorphism)
IPNMDB_37 commonName c.409A>G
IPNMDB_37 alias Ile137Val
IPNMDB_778 phenoCommon HNPP
IPNMDB_778 commonName c.433_434insC
IPNMDB_778 alias Leu145fs
IPNMDB_420 phenoCommon HNPP
IPNMDB_420 commonName c.434delT
IPNMDB_420 alias Leu145fs
IPNMDB_29 phenoCommon CMT1
IPNMDB_29 commonName c.440T>G
IPNMDB_29 alias Leu147Arg
IPNMDB_428 phenoCommon DSS
IPNMDB_428 commonName c.447C>A
IPNMDB_428 alias Ser149Arg
IPNMDB_31 phenoCommon DSS
IPNMDB_31 commonName c.448G>T
IPNMDB_31 alias Gly150Cys
IPNMDB_30 phenoCommon DSS
IPNMDB_30 commonName c.449G>A
IPNMDB_30 alias Gly150Asp
IPNMDB_623 phenoCommon - (polymorphism)
IPNMDB_623 commonName c.468G>A
IPNMDB_623 alias Leu156Leu
IPNMDB_32 phenoCommon DSS
IPNMDB_32 commonName c.469C>T
IPNMDB_32 alias [Arg157Trp]+[Arg157Trp]
IPNMDB_625 phenoCommon - (polymorphism)
IPNMDB_625 commonName c.499T>A
IPNMDB_937 phenoCommon CMTX5
IPNMDB_937 commonName c.129A>C
IPNMDB_937 alias Glu43Asp
IPNMDB_936 phenoCommon CMTX5
IPNMDB_936 commonName c.344T>C
IPNMDB_936 alias Met115Thr
IPNMDB_878 phenoCommon CMT1
IPNMDB_878 commonName c.[176T>C]+[2145T>A]
IPNMDB_878 alias [Leu59Pro]+[Cys715X]
IPNMDB_571 phenoCommon DSS
IPNMDB_571 commonName c.247delC
IPNMDB_571 alias [Arg82fs]+[Arg82fs]
IPNMDB_529 phenoCommon - (polymorphism)
IPNMDB_529 commonName c.306C>T
IPNMDB_529 alias Thr102Thr
IPNMDB_855 phenoCommon CMT1
IPNMDB_855 commonName c.[385_394dupATCCAGAGTC]+[3208C>T]
IPNMDB_855 alias [Leu132fs]+[Arg1070X]
IPNMDB_515 phenoCommon CMT4F
IPNMDB_515 commonName c.586C>T
IPNMDB_515 alias [Arg196X]+[Arg196X]
IPNMDB_517 phenoCommon DSS
IPNMDB_517 commonName c.[1102C>T]+[2289delT]
IPNMDB_517 alias [Arg368X]+[Val763fs]
IPNMDB_811 phenoCommon CMT4F
IPNMDB_811 commonName c.1194_1197delTTCC
IPNMDB_811 alias Ser399fs
IPNMDB_522 phenoCommon - (polymorphism)
IPNMDB_522 commonName c.1216G>A
IPNMDB_522 alias Ala406Thr
IPNMDB_524 phenoCommon - (polymorphism)
IPNMDB_524 commonName c.1483G>C
IPNMDB_524 alias Glu495Gln
IPNMDB_530 phenoCommon - (polymorphism)
IPNMDB_530 commonName c.1491C>G
IPNMDB_530 alias Pro497Pro
IPNMDB_570 phenoCommon CMT1
IPNMDB_570 commonName c.2145T>A
IPNMDB_570 alias [Cys715X]+[Cys715X]
IPNMDB_528 phenoCommon - (polymorphism)
IPNMDB_528 commonName c.2645T>G
IPNMDB_528 alias Val882Ala
IPNMDB_531 phenoCommon - (polymorphism)
IPNMDB_531 commonName c.2655T>C
IPNMDB_531 alias Pro885Pro
IPNMDB_527 phenoCommon - (polymorphism)
IPNMDB_527 commonName c.2763A>G
IPNMDB_527 alias Ile921Met
IPNMDB_518 phenoCommon DSS
IPNMDB_518 commonName c.2787delC
IPNMDB_518 alias [Ser929fs]+[Ser929fs]
IPNMDB_516 phenoCommon DSS
IPNMDB_516 commonName c.[2787delC]+[2857C>T]
IPNMDB_516 alias [Ser929fs]+[Arg953X]
IPNMDB_701 phenoCommon CMT1
IPNMDB_701 commonName c.3208C>T
IPNMDB_701 alias [Arg1070X]+[Arg1070X]
IPNMDB_526 phenoCommon - (polymorphism)
IPNMDB_526 commonName c.3248C>G
IPNMDB_526 alias Pro1083Arg
IPNMDB_525 phenoCommon - (polymorphism)
IPNMDB_525 commonName c.3394G>A
IPNMDB_525 alias Gly1132Arg
IPNMDB_521 phenoCommon - (polymorphism)
IPNMDB_521 commonName c.3775G>A
IPNMDB_521 alias Glu1259Lys
IPNMDB_523 phenoCommon - (polymorphism)
IPNMDB_523 commonName c.4075_4077delGAG
IPNMDB_523 alias Glu1359del
IPNMDB_636 phenoCommon CMT2B
IPNMDB_636 commonName c.385C>T
IPNMDB_636 alias Leu129Phe
IPNMDB_852 phenoCommon CMT2B
IPNMDB_852 commonName c.471G>C
IPNMDB_852 alias Lys157Asn
IPNMDB_733 phenoCommon CMT2B
IPNMDB_733 commonName c.482A>C
IPNMDB_733 alias Asn161Thr
IPNMDB_637 phenoCommon CMT2B
IPNMDB_637 commonName c.484G>A
IPNMDB_637 alias Val162Met
IPNMDB_698 phenoCommon CMT4B2 and juvenile onset glaucoma
IPNMDB_698 commonName c.1459C>T
IPNMDB_698 alias [Arg487X]+[Arg487X]
IPNMDB_653 phenoCommon CMT4B2 and early onset glaucoma
IPNMDB_653 commonName c.2875C>T
IPNMDB_653 alias [Gln956X]+[Gln956X]
IPNMDB_654 phenoCommon CMT4B2 and early onset glaucoma
IPNMDB_654 commonName c.3586C>T
IPNMDB_654 alias [Arg1196X]+[Arg1196X]
IPNMDB_749 phenoCommon CMT4B2
IPNMDB_749 commonName c.4443+1G>C
IPNMDB_749 alias [5'-splice site]+[5'-splice site]
IPNMDB_782 phenoCommon HNA
IPNMDB_782 commonName c.262C>T
IPNMDB_782 alias Arg88Trp
IPNMDB_783 phenoCommon HNA + dysmorphic features
IPNMDB_783 commonName c.278C>T
IPNMDB_783 alias Ser93Phe
IPNMDB_96 phenoCommon CMT4
IPNMDB_96 commonName c.26delG
IPNMDB_96 alias [Arg9fs]+[Arg9fs]
IPNMDB_866 phenoCommon CMT4
IPNMDB_866 commonName c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG]
IPNMDB_866 alias [Ala73fs]+[Glu731fs]
IPNMDB_101 phenoCommon CMT4
IPNMDB_101 commonName c.530-2A>G
IPNMDB_101 alias [5'-splice site]+[5'-splice site]
IPNMDB_867 phenoCommon CMT4
IPNMDB_867 commonName c.[920G>A]+[3326G>C]
IPNMDB_867 alias [Trp307X]+[Arg1109Pro]
IPNMDB_868 phenoCommon CMT4
IPNMDB_868 commonName c.1171-1G>A
IPNMDB_868 alias [3'-splice site]+[3'-splice site]
IPNMDB_278 phenoCommon CMT4
IPNMDB_278 commonName c.1586G>A
IPNMDB_278 alias [Arg529Gln]+[Arg529Gln]
IPNMDB_280 phenoCommon CMT4
IPNMDB_280 commonName c.1747_1748delAG
IPNMDB_280 alias [Arg583fs]+[Arg583fs]
IPNMDB_285 phenoCommon CMT4
IPNMDB_285 commonName c.1969G>A
IPNMDB_285 alias [Glu657Lys]+[Glu657Lys]
IPNMDB_869 phenoCommon CMT4
IPNMDB_869 commonName c.1972C>T
IPNMDB_869 alias [Arg658Cys]+[Arg658Cys]
IPNMDB_355 phenoCommon CMT4
IPNMDB_355 commonName c.[1972C>T]+[2860C>T]
IPNMDB_355 alias [Arg658Cys]+[Arg954X]
IPNMDB_872 phenoCommon CMT4
IPNMDB_872 commonName c.[1982T>C]+[2680C>T]
IPNMDB_872 alias [Leu662Pro]+[Arg954X]
IPNMDB_356 phenoCommon CMT4
IPNMDB_356 commonName c.2491_2492delAG
IPNMDB_356 alias [Ser831fs]+[Ser831fs]
IPNMDB_871 phenoCommon CMT4
IPNMDB_871 commonName c.[2642A>T]+[2860C>T]
IPNMDB_871 alias [Asn881Ser]+[Arg954X]
IPNMDB_870 phenoCommon CMT4
IPNMDB_870 commonName c.2710C>T
IPNMDB_870 alias [Arg904X]+[Arg904X]
IPNMDB_357 phenoCommon CMT4
IPNMDB_357 commonName c.[2829T>G]+[2860C>T]
IPNMDB_357 alias [Tyr943X]+[Arg954X]
IPNMDB_865 phenoCommon CMT4
IPNMDB_865 commonName c.2860C>T
IPNMDB_865 alias [Arg954X]+[Arg954X]
IPNMDB_358 phenoCommon CMT4
IPNMDB_358 commonName c.[2860C>T]+[3601C>T]
IPNMDB_358 alias [Arg954X]+[Gln1201X]
IPNMDB_830 phenoCommon CMT4
IPNMDB_830 commonName c.3325C>T
IPNMDB_830 alias [Arg1109X]+[Arg1109X]
IPNMDB_359 phenoCommon CMT4
IPNMDB_359 commonName c.3341delC
IPNMDB_359 alias [Pro1114fs]+[Pro1114fs]
IPNMDB_647 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome
IPNMDB_647 commonName c.2023C>T
IPNMDB_647 alias [Arg675X]+[Arg675X]
IPNMDB_644 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome
IPNMDB_644 commonName c.2436delG
IPNMDB_644 alias [Thr813fs]+[Thr813fs]
IPNMDB_645 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome
IPNMDB_645 commonName c.[2436delG]+[1584_1585delCTinsG]
IPNMDB_645 alias [Thr813fs]+[Phe529fs]
IPNMDB_921 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome
IPNMDB_921 commonName c.2995_3004delCAGATGCTCC
IPNMDB_921 alias [Gln999fs]+[Gln999fs]
IPNMDB_646 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome
IPNMDB_646 commonName c.3031C>T
IPNMDB_646 alias [Arg1011X]+[Arg1011X]
IPNMDB_659 phenoCommon CH + Waardenburg-Hirschsprung
IPNMDB_659 commonName c.748C>T
IPNMDB_659 alias Gln250X
IPNMDB_534 phenoCommon Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness
IPNMDB_534 commonName c.795delG
IPNMDB_534 alias Glu265fs
IPNMDB_519 phenoCommon CMT1 (+ Pelizaeus-Merzbacher disease & Waardenburg-Hirschsprung)
IPNMDB_519 commonName c.1400_1411delAAAGGGGGCCCT
IPNMDB_519 alias X467del
IPNMDB_942 phenoCommon HSN I
IPNMDB_942 commonName c.397T>C
IPNMDB_942 alias Cys133Arg
IPNMDB_509 phenoCommon HSN I
IPNMDB_509 commonName c.398G>A
IPNMDB_509 alias Cys133Tyr
IPNMDB_510 phenoCommon HSN I
IPNMDB_510 commonName c.399T>G
IPNMDB_510 alias Cys133Trp
IPNMDB_511 phenoCommon HSN I
IPNMDB_511 commonName c.431T>A
IPNMDB_511 alias Val144Asp
IPNMDB_838 phenoCommon - (polymorphism)
IPNMDB_838 commonName c.452G>T
IPNMDB_838 alias Arg151Leu
IPNMDB_940 phenoCommon HSN I
IPNMDB_940 commonName c.992C>T
IPNMDB_940 alias Ser331Phe
IPNMDB_675 phenoCommon - (polymorphism)
IPNMDB_675 commonName c.1160G>C
IPNMDB_675 alias Gly387Ala
IPNMDB_944 phenoCommon HSN I
IPNMDB_944 commonName c.1075G>A
IPNMDB_944 alias Val352Met
IPNMDB_943 phenoCommon HSN I
IPNMDB_943 commonName c.1145G>T
IPNMDB_943 alias Gly382Val
IPNMDB_945 phenoCommon HSN I
IPNMDB_945 commonName c.1510A>T
IPNMDB_945 alias Ile504Phe
IPNMDB_801 phenoCommon CMT1/2
IPNMDB_801 commonName c.121G>A
IPNMDB_801 alias Gly41Arg
IPNMDB_803 phenoCommon CMT1/2
IPNMDB_803 commonName c.458_469delTAAAGCAGGTGG
IPNMDB_803 alias Val153_Val156del
IPNMDB_802 phenoCommon CMT1/2
IPNMDB_802 commonName c.586G>A
IPNMDB_802 alias Glu196Lys
RPGR_00105 commonName c.28+1G>A
RPGR_00153 commonName c.28+5G>A
RPGR_00268 commonName c.29-15A>G
RPGR_00088 commonName c.1088_1089insT
RPGR_00089 commonName c.1092_1093insT
RPGR_00090 commonName c.1100delC
RPGR_00289 commonName c.1117A>T
RPGR_00026 commonName c.1120G>T
RPGR_00290 commonName c.1135G>T
RPGR_00210 commonName c.1164G>A
RPGR_00211 commonName c.1164G>T
RPGR_00291 commonName c.1175delC
RPGR_00340 commonName c.1179T>G
RPGR_00091 commonName c.1216_1217delCT
RPGR_00027 commonName c.1234C>T
RPGR_00092 commonName c.1238_1239insAG
RPGR_00093 commonName c.1242_1243delGA
RPGR_00259 commonName c.1245+2T>C
RPGR_00219 commonName c.1245+3A>G
RPGR_00272 commonName c.1246-13delC
RPGR_00319 commonName c.1246-2A>C
RPGR_00094 commonName c.1261_1279del19
RPGR_00212 commonName c.1274G>A
RPGR_00213 commonName c.1291A>G
RPGR_00214 commonName c.1295A>G
RPGR_00028 commonName c.1307G>A
RPGR_00029 commonName c.1345C>T
RPGR_00215 commonName c.1367A>G
RPGR_00095 commonName c.1372_1373delAG
RPGR_00096 commonName c.1376_1377delTC
RPGR_00338 commonName c.1399C>T
RPGR_00097 commonName c.1402_1405delCCAG
RPGR_00320 commonName c.1414+2T>A
RPGR_00098 commonName c.1477delC
RPGR_00277 commonName c.1507-130T>C
RPGR_00275 commonName c.1507-101T>A
RPGR_00276 commonName c.1507-101T>AA
RPGR_00274 commonName c.1507-101_104del4
RPGR_00281 commonName c.1507-97T>C
RPGR_00278 commonName c.1507-68T>C
RPGR_00099 commonName c.1512_1513delCA
RPGR_00321 commonName c.1572+1G>A
RPGR_00326 commonName c.1572+11A>G
RPGR_00220 commonName c.1573-8A>G
RPGR_00337 commonName c.1573-3C>G
RPGR_00221 commonName c.1573-2A>G
RPGR_00222 commonName c.1573-1G>A
RPGR_00216 commonName c.1576-1578delCAA
RPGR_00100 commonName c.1582_1585del4
RPGR_00217 commonName c.1598C>T
RPGR_00342 commonName c.1628_1629insAACGATGA
RPGR_00101 commonName c.1685_1686delAT
RPGR_00218 commonName c.1687G>A
RPGR_00260 commonName c.1697G>A
RPGR_00030 commonName c.1747G>T
RPGR_00283 commonName c.2092-137T>A
RPGR_00323 commonName c.2149+46C>T
RPGR_00324 commonName c.2241+11T>C
RPGR_00067 commonName c.33delG
RPGR_00068 commonName c.101delA
RPGR_00261 commonName c.122C>G
RPGR_00001 commonName c.127G>A
RPGR_00002 commonName c.128G>A
RPGR_00203 commonName c.141T>G
RPGR_00204 commonName c.153C>T
RPGR_00003 commonName c.154G>T
RPGR_00247 commonName c.155-2A>G
RPGR_00224 commonName c.155-1G>A
RPGR_00004 commonName c.179G>T
RPGR_00263 commonName c.194delG
RPGR_00262 commonName c.194G>T
RPGR_00205 commonName c.223A>G
RPGR_00206 commonName c.227G>T
RPGR_00070 commonName c.237_238delAT
RPGR_00207 commonName c.248-6T>A
RPGR_00071 commonName c.274_277dup4
RPGR_00005 commonName c.294C>A
RPGR_00006 commonName c.296C>A
RPGR_00208 commonName c.310+1G>A
RPGR_00209 commonName c.310+1G>C
RPGR_00251 commonName c.310+3A>G
RPGR_00265 commonName c.323_328del6
RPGR_00266 commonName c.350G>A
RPGR_00073 commonName c.356delT
RPGR_00103 commonName c.371delC
RPGR_00007 commonName c.379A>G
RPGR_00008 commonName c.390T>G
RPGR_00270 commonName c.408delT
RPGR_00009 commonName c.415G>T
RPGR_00010 commonName c.455C>T
RPGR_00252 commonName c.469+1G>T
RPGR_00282 commonName c.482delT
RPGR_00074 commonName c.482_483delTT
RPGR_00104 commonName c.485_486delTT
RPGR_00075 commonName c.486delT
RPGR_00011 commonName c.492G>A
RPGR_00322 commonName c.494G>T
RPGR_00012 commonName c.517G>C
RPGR_00013 commonName c.581G>A
RPGR_00284 commonName c.583A>G
RPGR_00348 commonName c.593G>A
RPGR_00014 commonName c.605C>A
RPGR_00253 commonName c.619+5G>A
RPGR_00254 commonName c.619+9del
RPGR_00271 commonName c.619+16A>G
RPGR_00269 commonName c.620-41T>C
RPGR_00077 commonName c.629_639del11
RPGR_00015 commonName c.644G>T
RPGR_00078 commonName c.697_724del28
RPGR_00016 commonName c.703C>T
RPGR_00031 commonName c.706C>T
RPGR_00032 commonName c.730A>T
RPGR_00248 commonName c.732G>A
RPGR_00080 commonName c.747delC
RPGR_00017 commonName c.748T>C
RPGR_00018 commonName c.749G>A
RPGR_00079 commonName c.749_750delGT
RPGR_00285 commonName c.752_753delTG
RPGR_00341 commonName c.764C>T
RPGR_00081 commonName c.771_773delTCT
RPGR_00255 commonName c.778-1G>A
RPGR_00318 commonName c.778+1G>C
RPGR_00256 commonName c.778+5G>A
RPGR_00349 commonName c.779-5T>G
RPGR_00249 commonName c.785C>G
RPGR_00082 commonName c.786_787delTG
RPGR_00019 commonName c.799G>A
RPGR_00286 commonName c.800G>A
RPGR_00350 commonName c.812_813delTT
RPGR_00287 commonName c.814G>A
RPGR_00288 commonName c.817C>T
RPGR_00020 commonName c.823G>A
RPGR_00083 commonName c.837delT
RPGR_00084 commonName c.838_842del5
RPGR_00021 commonName c.865A>G
RPGR_00085 commonName c.869delA
RPGR_00086 commonName c.886_900del15
RPGR_00087 commonName c.891_892delAA
RPGR_00022 commonName c.904T>C
RPGR_00023 commonName c.905G>A
RPGR_00024 commonName c.934G>A
RPGR_00025 commonName c.934G>T
RPGR_00257 commonName c.934+1G>A
RPGR_00258 commonName c.934+1G>C
RPGR_00033 commonName c.958G>A
RPGR_00034 commonName c.980G>T
RPGR_00035 commonName c.994G>T
RPGR_00250 commonName c.1033A>G
RPGR_00339 commonName c.1059+2T>C
RPGR_00336 commonName c.1059+363G>A
RPGR_00036 commonName c.1765G>T
RPGR_00102 commonName c.1835_1836insA
RPGR_00106 commonName c.1869_1870delAG
RPGR_00107 commonName c.1872_1873delGA
RPGR_00108 commonName c.1926_1927insA
RPGR_00037 commonName c.1928C>G
RPGR_00351 commonName c.1933_1934insC
RPGR_00109 commonName c.1938_1939insAGAGG
RPGR_00110 commonName c.1952_1953insT
RPGR_00111 commonName c.2002delC
RPGR_00038 commonName c.2007G>A
RPGR_00112 commonName c.2049_2128dup80
RPGR_00039 commonName c.2080A>T
RPGR_00113 commonName c.2105_2213dup109
RPGR_00114 commonName c.2109_2110insGAAG
RPGR_00040 commonName c.2122G>T
RPGR_00115 commonName c.2144_2216dup73
RPGR_00041 commonName c.2146G>T
RPGR_00345 commonName c.2148_2149ins356
RPGR_00325 commonName c.2153delG
RPGR_00116 commonName c.2155_2156insC
RPGR_00117 commonName c.2167delA
RPGR_00343 commonName c.2171delA
RPGR_00042 commonName c.2173C>T
RPGR_00043 commonName c.2176G>T
RPGR_00118 commonName c.2185delG
RPGR_00119 commonName c.2187delG
RPGR_00292 commonName c.2189delG
RPGR_00044 commonName c.2218G>T
RPGR_00330 commonName c.2223G>A
RPGR_00120 commonName c.2233_2234delAG
RPGR_00121 commonName c.2234_2235delGA
RPGR_00122 commonName c.2234_2237delGAGA
RPGR_00123 commonName c.2235_2236delAG
RPGR_00352 commonName c.2235_2238delAGAA
RPGR_00124 commonName c.2236_2237delGA
RPGR_00293 commonName c.2241_2242delGG
RPGR_00045 commonName c.2245G>T
RPGR_00125 commonName c.2252_2255delAGGA
RPGR_00126 commonName c.2256_2259delGGGA
RPGR_00127 commonName c.2257_2260delGGAG
RPGR_00046 commonName c.2260G>T
RPGR_00353 commonName c.2268delA
RPGR_00128 commonName c.2270_2271delAG
RPGR_00047 commonName c.2293G>T
RPGR_00294 commonName c.2305G>A
RPGR_00295 commonName c.2311delG
RPGR_00296 commonName c.2319_2320delAG
RPGR_00354 commonName c.2321_2330delAGAGGAAAAA
RPGR_00129 commonName c.2323_2324delAG
RPGR_00130 commonName c.2340delA
RPGR_00131 commonName c.2340_2341delAG
RPGR_00329 commonName c.2341G>A
RPGR_00132 commonName c.2357_2358delAA
RPGR_00133 commonName c.2384delA
RPGR_00134 commonName c.2398delG
RPGR_00135 commonName c.2400_2401delAA
RPGR_00223 commonName c.2401A>G
RPGR_00136 commonName c.2403_2404delAG
RPGR_00137 commonName c.2403_2406delAGAG
RPGR_00138 commonName c.2404_2405delGA
RPGR_00139 commonName c.2405_2406delAG
RPGR_00140 commonName c.2412_2413delAG
RPGR_00141 commonName c.2423_2424delAA
RPGR_00142 commonName c.2425_2426delGA
RPGR_00143 commonName c.2426_2427delAG
RPGR_00048 commonName c.2437G>T
RPGR_00144 commonName c.2442_2445delAGAG
RPGR_00355 commonName c.2443G>A
RPGR_00238 commonName c.2447_2461del15
RPGR_00297 commonName c.2464_2468delGGGAA
RPGR_00298 commonName c.2467A>T
RPGR_00299 commonName c.2472_2485del14
RPGR_00300 commonName c.2473_2474delGA
RPGR_00301 commonName c.2473_2486del14
RPGR_00145 commonName c.2476_2477delAG
RPGR_00146 commonName c.2480_2520dup41
RPGR_00049 commonName c.2491G>T
RPGR_00147 commonName c.2493_2494delGG
RPGR_00302 commonName c.2494G>T
RPGR_00148 commonName c.2495_2516del22
RPGR_00149 commonName c.2499delT
RPGR_00356 commonName c.2499_2500dupTG
RPGR_00150 commonName c.2501delA
RPGR_00151 commonName c.2505_2506delGG
RPGR_00152 commonName c.2506delG
RPGR_00303 commonName c.2506dupG
RPGR_00154 commonName c.2516_2520delAAGGG
RPGR_00155 commonName c.2517_2518delAG
RPGR_00156 commonName c.2522delA
RPGR_00157 commonName c.2529delA
RPGR_00050 commonName c.2536G>T
RPGR_00226 commonName c.2541_2561del21
RPGR_00158 commonName c.2543delA
RPGR_00344 commonName c.2548delG
RPGR_00346 commonName c.2548_2667del120insAGGGAGAA
RPGR_00159 commonName c.2554_2555insG
RPGR_00051 commonName c.2557G>T
RPGR_00160 commonName c.2571_2572delAG
RPGR_00161 commonName c.2586_2587delGG
RPGR_00052 commonName c.2590G>T
RPGR_00162 commonName c.2601_2602delGG
RPGR_00227 commonName c.2606_2620del15
RPGR_00304 commonName c.2608_2611delGAAG
RPGR_00163 commonName c.2613_2614delGG
RPGR_00228 commonName c.2615_2616ins21
RPGR_00165 commonName c.2625_2626insA
RPGR_00166 commonName c.2628_2629delGG
RPGR_00053 commonName c.2629G>T
RPGR_00305 commonName c.2635dupG
RPGR_00054 commonName c.2650G>T
RPGR_00167 commonName c.2655_2656delGG
RPGR_00168 commonName c.2659_2662delGGAG
RPGR_00231 commonName c.2665G>T
RPGR_00229 commonName c.2665_2667delGAG
RPGR_00230 commonName c.2667_2669delGGA
RPGR_00264 commonName c.2670_2744dup75
RPGR_00169 commonName c.2679_2680delGG
RPGR_00055 commonName c.2683G>T
RPGR_00056 commonName c.2707G>T
RPGR_00170 commonName c.2714_2715delAA
RPGR_00171 commonName c.2715_2716insCCTC
RPGR_00057 commonName c.2716G>T
RPGR_00232 commonName c.2717_2719delAGG
RPGR_00172 commonName c.2730_2731delGG
RPGR_00173 commonName c.2760_2761delAG
RPGR_00174 commonName c.2763_2764delGG
RPGR_00058 commonName c.2782G>T
RPGR_00175 commonName c.2790_2791delGG
RPGR_00306 commonName c.2792delA
RPGR_00059 commonName c.2800G>T
RPGR_00234 commonName c.2804_2824dup21
RPGR_00060 commonName c.2812G>T
RPGR_00233 commonName c.2820_2840dup21
RPGR_00176 commonName c.2836_2840delGGGGA
RPGR_00307 commonName c.2838_2839delGG
RPGR_00308 commonName c.2840delA
RPGR_00309 commonName c.2840_2844del5
RPGR_00177 commonName c.2845delG
RPGR_00061 commonName c.2848G>T
RPGR_00178 commonName c.2851_2854delGAGG
RPGR_00179 commonName c.2862dupA
RPGR_00180 commonName c.2866delG
RPGR_00311 commonName c.2867delA
RPGR_00062 commonName c.2872G>T
RPGR_00235 commonName c.2884G>A
RPGR_00181 commonName c.2892_2893delGG
RPGR_00310 commonName c.2893delG
RPGR_00182 commonName c.2894delA
RPGR_00183 commonName c.2899delG
RPGR_00236 commonName c.2903_2923dup21
RPGR_00312 commonName c.2908_2931dup24
RPGR_00184 commonName c.2916_2917delGG
RPGR_00063 commonName c.2917G>T
RPGR_00237 commonName c.2918_2938dup21
RPGR_00335 commonName c.2919delA
RPGR_00328 commonName c.2924_2943dup20
RPGR_00064 commonName c.2929G>T
RPGR_00185 commonName c.2935_2936delGG
RPGR_00186 commonName c.2944delG
RPGR_00187 commonName c.2952_2978del27insT
RPGR_00314 commonName c.2964_2965delGG
RPGR_00267 commonName c.2973_2987del15
RPGR_00188 commonName c.2984_2985delGG
RPGR_00334 commonName c.2985_2986delGG
RPGR_00189 commonName c.2992_2996delGAAGG
RPGR_00190 commonName c.2995_2996delGG
RPGR_00191 commonName c.2997_2998delGG
RPGR_00192 commonName c.3007_3008delGG
RPGR_00193 commonName c.3007_3010delGGAG
RPGR_00194 commonName c.3011_3012delAG
RPGR_00333 commonName c.3027_3028delGG
RPGR_00195 commonName c.3050_3051delAG
RPGR_00239 commonName c.3051_3062del12
RPGR_00196 commonName c.3058delG
RPGR_00240 commonName c.3060_3071del12
RPGR_00241 commonName c.3061_3072del12
RPGR_00242 commonName c.3074_3085del12
RPGR_00197 commonName c.3090_3091delAG
RPGR_00198 commonName c.3092delA
RPGR_00199 commonName c.3092_3093delAG
RPGR_00200 commonName c.3096_3097delGG
RPGR_00201 commonName c.3097delG
RPGR_00315 commonName c.3175_3176delAG
RPGR_00065 commonName c.3211G>T
RPGR_00243 commonName c.3219C>T
RPGR_00244 commonName c.3231T>A
RPGR_00066 commonName c.3232G>T
RPGR_00202 commonName c.3316_3319delAAGT
RPGR_00313 commonName c.3317_3318insA
RPGR_00317 commonName c.3394_3395delAA
RPGR_00358 commonName c.3395delA
RPGR_00245 commonName c.3396T>C
RPGR_00332 commonName c.3428A>G
RPGR_00246 commonName c.3430A>G
X-ALD_c.-59C>T commonName c.-59C>T
X-ALD_c.-17_8del26 commonName c.-17_8del26
X-ALD_c.-17_8del26 phenoCommon ALDP in fibroblasts is absent
X-ALD_c.-24_57del81insA commonName c.-24_57del81insA
X-ALD_c.1A>G commonName c.1A>G
X-ALD_c.1A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.2T>A commonName c.2T>A
X-ALD_c.2T>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.3G>A commonName c.3G>A
X-ALD_c.3G>C commonName c.3G>C
X-ALD_c.30G>A commonName 7, 58
X-ALD_c.30G>A alias c.30G>A
X-ALD_c.30G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.38A>C commonName c.38A>C
X-ALD_c.[46A>T;706C>T] commonName c.[46A>T;706C>T]
X-ALD_c.53_54insGCAC commonName c.53_54insGCAC
X-ALD_c.53_54insGCAC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.55G>T commonName c.55G>T
X-ALD_c.56delC commonName c.56delC
X-ALD_c.56delC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.67_83del commonName c.67_83del17
X-ALD_c.97_100del commonName c.97_100del4
X-ALD_c.102C>AT commonName c.102C>AT
X-ALD_c.109C>G commonName c.109C>G
X-ALD_c.110_117del commonName 33, 72
X-ALD_c.110_117del alias c.110_17del8
X-ALD_c.112C>T commonName c.112C>T
X-ALD_c.115_31delins3 commonName c.115_31delins3
X-ALD_c.115_31delins3 phenoCommon ALDP in fibroblasts is absent
X-ALD_c.119_147del commonName c.119_147del29
X-ALD_c.125delC commonName c.125delC
X-ALD_c.125_26insC commonName c.125_26insC
X-ALD_c.138_39insT commonName c.138_39insT
X-ALD_c.139C>T commonName 33, 58
X-ALD_c.139C>T alias c.139C>T
X-ALD_c.145_146ins4 commonName c.145_146ins4
X-ALD_c.145_146ins4 phenoCommon ALDP in fibroblasts is absent
X-ALD_c.154G>T commonName c.154G>T
X-ALD_c.155_56insG commonName c.155_56insG
X-ALD_c.220C>T commonName 32, 97
X-ALD_c.220C>T alias c.220C>T
X-ALD_c.220C>T phenoCommon ALDP in fibroblasts is 7.5 ± 0.6%
X-ALD_c.225_242del commonName c.225_242del18
X-ALD_c.225_242del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.232_240del commonName c.232_40del9
X-ALD_c.234_242del commonName c.234_42del9
X-ALD_c.240_41ins6 commonName c.240_41ins6
X-ALD_c.240_41ins9 commonName c.240_41ins9
X-ALD_c.243_44ins9 commonName 28, 33
X-ALD_c.243_44ins9 alias c.243_44ins9
X-ALD_c.248delT commonName c.248delT
X-ALD_c.250C>T commonName c.250C>T
X-ALD_c.251C>T commonName c.251C>T
X-ALD_c.253_54insC commonName 49, 60, 62
X-ALD_c.253_54insC alias c.253_54insC
X-ALD_c.258C>T commonName c.258C>T
X-ALD_c.264C>G commonName c.264C>G
X-ALD_c.264C>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.268G>A commonName c.268G>A
X-ALD_c.268G>T commonName c.268G>T
X-ALD_c.270_271delGA commonName c.270-271delGA
X-ALD_c.274_311del commonName c.274_311del38
X-ALD_c.277delC commonName c.277delC
X-ALD_c.287_88insCC commonName c.287_88insCC
X-ALD_c.290A>C commonName c.290A>C
X-ALD_c.292T>C commonName c.292T>C
X-ALD_c.292T>C phenoCommon ALDP in fibroblasts is decreased
X-ALD_c.293C>T commonName 7, 33, 49, 48, 58
X-ALD_c.293C>T alias c.293C>T
X-ALD_c.293C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.293C>G commonName c.293C>G
X-ALD_c.294_95insC commonName c.294_95insC
X-ALD_c.296C>A commonName c.296C>A
X-ALD_c.298delG commonName c.298delG
X-ALD_c.301T>A commonName c.301T>A
X-ALD_c.305T>A commonName c.305T>A
X-ALD_c.309C>G commonName 29, 53
X-ALD_c.309C>G alias c.309C>G
X-ALD_c.309C>G phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.310C>T commonName 13, 16, 33, 42, , 97
X-ALD_c.310C>T alias c.310C>T
X-ALD_c.310C>T phenoCommon ALDP in fibroblasts is 35± 3%
X-ALD_c.311G>A commonName 4, 32, 33, 49, 47
X-ALD_c.311G>A alias c.311G>A
X-ALD_c.311G>T commonName c.311G>T
X-ALD_c.313A>C commonName 33, 38
X-ALD_c.313A>C alias c.313A>C
X-ALD_c.314C>T commonName c.314C>T
X-ALD_c.314C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.319delC commonName c.319delC
X-ALD_c.320T>C commonName c.320T>C
X-ALD_c.322T>G commonName c.322T>G
X-ALD_c.322T>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.323C>A commonName 33, 56
X-ALD_c.323C>A alias c.323C>A
X-ALD_c.323C>T commonName 33, 34, 53, 62, 90
X-ALD_c.323C>T alias c.323C>T
X-ALD_c.323C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.323C>G commonName 7, 53
X-ALD_c.323C>G alias c.323C>G
X-ALD_c.323C>G phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.337delC commonName 49, 62, 97
X-ALD_c.337delC alias c.337delC
X-ALD_c.337delC phenoCommon ALDP in fibroblasts is 0%
X-ALD_c.337C>T commonName c.337C>T
X-ALD_c.337C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.338G>C commonName c.338G>C
X-ALD_c.341T>C commonName c.341T>C
X-ALD_c.341T>C phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.346G>A commonName 7, 29, 32, 33, 58
X-ALD_c.346G>A alias c.346G>A
X-ALD_c.346G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.347G>A commonName 57, 87, 88
X-ALD_c.347G>A alias c.347G>A
X-ALD_c.352_353delCT commonName c.352delCT
X-ALD_c.356C>A commonName c.356C>A
X-ALD_c.359G>C commonName c.359G>C
X-ALD_c.359G>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.368T>C commonName c.368C>T
X-ALD_c.371G>C commonName c.371G>C
X-ALD_c.385_86insT commonName c.385_86insT
X-ALD_c.387delT commonName c.387delT
X-ALD_c.395G>A commonName 71, 94
X-ALD_c.395G>A alias c.395G>A
X-ALD_c.396G>A commonName 33, 52, 59
X-ALD_c.396G>A alias c.396G>A
X-ALD_c.397C>T commonName 16, 49
X-ALD_c.397C>T alias c.397C>T
X-ALD_c.397C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.401T>G commonName c.401T>G
X-ALD_c.401_405delinsAGCATT commonName c.401_05delinsAGCATT
X-ALD_c.410G>A commonName c.410G>A
X-ALD_c.411G>A commonName 16, 49, 62
X-ALD_c.411G>A alias c.411G>A
X-ALD_c.411G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.412_423del commonName c.412_23del12
X-ALD_c.412_414delCTC commonName 52, 96
X-ALD_c.412_414delCTC alias c.412_14delCTC
X-ALD_c.420C>A commonName c.420C>A
X-ALD_c.421G>A commonName 13, 33, 64, 88, 93
X-ALD_c.421G>A alias c.421G>A
X-ALD_c.422C>T commonName c.422C>T
X-ALD_c.427C>T commonName 49, 34, 38, 88
X-ALD_c.427C>T alias c.427C>T
X-ALD_c.428C>A commonName c.428C>A
X-ALD_c.428C>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.428C>T commonName c.428C>T
X-ALD_c.432_446delinsCCC commonName c.432_446delinsCCC
X-ALD_c.432_446delinsCCC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.440T>G commonName c.440T>G
X-ALD_c.440T>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.442A>G commonName c.442A>G
X-ALD_c.442A>T commonName c.442A>T
X-ALD_c.442A>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.443A>G commonName 7, 8, 24, 33, 38, 60
X-ALD_c.443A>G alias c.443A>G
X-ALD_c.443A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.446G>A commonName 16, 32, 49, 97
X-ALD_c.446G>A alias c.446G>A
X-ALD_c.446G>A phenoCommon ALDP in fibroblasts is 77 ± 3%
X-ALD_c.454C>A commonName 29, 49, 90
X-ALD_c.454C>A alias c.454C>A
X-ALD_c.454C>T commonName 7, 13, 33, 49, 52, 63, 88
X-ALD_c.454C>T alias c.454C>T
X-ALD_c.454C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.455G>C commonName c.455G>C
X-ALD_c.455G>T commonName 33, 49, 52, 58
X-ALD_c.455G>T alias c.455G>T
X-ALD_c.455G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.461T>C commonName 33, 88
X-ALD_c.461T>C alias c.461T>C
X-ALD_c.462_481del commonName c.462_81del20
X-ALD_c.469C>T commonName c.469C>T
X-ALD_c.469C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.473T>C commonName c.473T>C
X-ALD_c.476_499del commonName c.476_99del24
X-ALD_c.479T>C commonName c.479T>C
X-ALD_c.481T>C commonName c.481T>C
X-ALD_c.482C>A commonName 29, 88
X-ALD_c.482C>A alias c.482C>A
X-ALD_c.488G>A commonName c.488G>A
X-ALD_c.488G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.488G>T commonName c.488G>T
X-ALD_c.488G>C commonName 49, 41, 33, 57
X-ALD_c.488G>C alias c.488G>C
X-ALD_c.494delG commonName c.494delG
X-ALD_c.496_497insG commonName c.496_497insG
X-ALD_c.510delC commonName c.510delC
X-ALD_c.512A>C commonName c.512A>C
X-ALD_c.514delC commonName c.514delC
X-ALD_c.515_16insC commonName c.515_16insC
X-ALD_c.518T>C commonName c.518T>C
X-ALD_c.520T>C commonName c.520T>C
X-ALD_c.520T>G commonName 8, 15
X-ALD_c.520T>G alias c.520T>G
X-ALD_c.521A>G commonName 29, 33, 47, 49, 60, 62, 88, 93
X-ALD_c.521A>G alias c.521A>G
X-ALD_c.521A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.521A>C commonName 1, 33, 60, 88
X-ALD_c.521A>C alias c.521A>C
X-ALD_c.521A>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.522_524delCTT commonName c.522_24delCTT
X-ALD_c.522_524delCTT phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.529C>T commonName 29, 32, 33, 49, 60, 62, 86, 88
X-ALD_c.529C>T alias c.529C>T
X-ALD_c.529C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.540_41insT commonName c.540_41insT
X-ALD_c.540_41insT phenoCommon ALDP in fibroblasts is absent
X-ALD_c.541_542delTA commonName c.541_42delTA
X-ALD_c.541_542delTA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.542A>G commonName 7, 33, 49, 52, 63, 88
X-ALD_c.542A>G alias c.542A>G
X-ALD_c.543C>A commonName c.543C>A
X-ALD_c.543C>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.544_45insCTACTACC commonName c.544_45insCTACTACC
X-ALD_c.545G>C commonName 13, 59
X-ALD_c.545G>C alias c.545G>C
X-ALD_c.548T>G commonName c.548T>G
X-ALD_c.565C>T commonName 29, 33, 60
X-ALD_c.565C>T alias c.565C>T
X-ALD_c.566G>A commonName c.566G>A
X-ALD_c.569T>C commonName c.569T>C
X-ALD_c.580G>A commonName c.580G>A
X-ALD_c.580G>A phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.580G>C commonName 16, 58, 97
X-ALD_c.580G>C alias c.580G>C
X-ALD_c.580G>C phenoCommon ALDP in fibroblasts is 60 ± 14%
X-ALD_c.581_589del commonName c.581_89del
X-ALD_c.583C>T commonName c.583C>T
X-ALD_c.588_589delTC commonName c.588_89delTC
X-ALD_c.591_92insT commonName c.591_92insT
X-ALD_c.593C>A commonName c.593C>A
X-ALD_c.593C>G commonName c.593C>G
X-ALD_c.593C>T commonName c.593C>T
X-ALD_c.595G>A commonName c.595G>A
X-ALD_c.598G>A commonName c.598G>A
X-ALD_c.599A>T commonName c.599A>T
X-ALD_c.614C>A commonName c.614C>A
X-ALD_c.619_627del commonName c.619_627del
X-ALD_c.619_627del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.622_23insCGGCCTCTG commonName c.622_23insCGGCCTCTG
X-ALD_c.618_630del commonName c.618_30del13
X-ALD_c.621_900+384del664 commonName c.621_900+384del664
X-ALD_c.621_900+384del664 phenoCommon ALDP in fibroblasts is absent
X-ALD_c.622_623insG commonName c.622_623insG
X-ALD_c.632T>C commonName c.632T>C
X-ALD_c.636C>G commonName 4, 38
X-ALD_c.636C>G alias c.636C>G
X-ALD_c.638C>G commonName c.638C>G
X-ALD_c.640A>G commonName c.640A>G
X-ALD_c.643delC commonName c.643delC
X-ALD_c.649A>G commonName 49, 48
X-ALD_c.649A>G alias c.649A>G
X-ALD_c.649A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.652C>A commonName 29, 49
X-ALD_c.652C>A alias c.652C>A
X-ALD_c.652C>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.659T>C commonName 16, 97
X-ALD_c.659T>C alias c.659T>C
X-ALD_c.659T>C phenoCommon ALDP in fibroblasts is 22 ± 5.4%
X-ALD_c.662A>G commonName 7, 33
X-ALD_c.662A>G alias c.662A>G
X-ALD_c.662A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.668C>A commonName c.668C>A
X-ALD_c.671T>G commonName c.671T>G
X-ALD_c.677delC commonName c.677delC
X-ALD_c.684_85insTACAC commonName c.684_85insTACAC
X-ALD_c.686T>C commonName 29, 33, 47, 49
X-ALD_c.686T>C alias c.686T>C
X-ALD_c.686T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.692_694delGGGinsC commonName c.692_94delGGGinsC
X-ALD_c.693_694delGG commonName 7, 13
X-ALD_c.693_694delGG alias c.693_94delGG
X-ALD_c.693_694delGG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.696G>T commonName c.696G>T
X-ALD_c.695_96insG commonName c.695_96insG
X-ALD_c.697_900+25del229 commonName c.697_900+25del229
X-ALD_c.706_709delCGTG commonName c.706_09delCGTG
X-ALD_c.[707G>A;1534G>A] commonName c.[707G>A;1534G>A]
X-ALD_c.[707G>A;1534G>A] phenoCommon ALDP in fibroblasts is absent
X-ALD_c.724_728delTGGCC commonName c.724_28delTGGCC
X-ALD_c.725G>A commonName c.725G>A
X-ALD_c.726G>A commonName 15, 33, 49, 59
X-ALD_c.726G>A alias c.726G>A
X-ALD_c.726G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.730_731delinsGAGA commonName c.730_31delinsGAGA
X-ALD_c.734C>A commonName c.734C>A
X-ALD_c.739delG commonName c.739delG
X-ALD_c.739_40insGCCATCG commonName c.739_40insGCCATCG
X-ALD_c.742_745delGGCC commonName c.742_45delGGCC
X-ALD_c.748_759del commonName c.748_59del12
X-ALD_c.749_751delTGG commonName c.749_51delTGG
X-ALD_c.757_65delins4 commonName c.757_65delins4
X-ALD_c.[757C>G;1817C>T] commonName c.[757C>G;1817C>T]
X-ALD_c.760A>G commonName 33, 58
X-ALD_c.760A>G alias c.760A>G
X-ALD_c.760A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.760A>C commonName 33, 90
X-ALD_c.760A>C alias c.760A>C
X-ALD_c.761delC commonName c.761delC
X-ALD_c.761C>A commonName 33, 52
X-ALD_c.761C>A alias c.761C>A
X-ALD_c.761C>T commonName 15, 33
X-ALD_c.761C>T alias c.761C>T
X-ALD_c.773T>C commonName c.773T>C
X-ALD_c.775C>T commonName c.775C>T
X-ALD_c.784_785delTC commonName c.784delTC
X-ALD_c.785_791del commonName c.785_91del7
X-ALD_c.785C>G commonName c.785C>G
X-ALD_c.787C>T commonName c.787C>T
X-ALD_c.788C>T commonName c.788C>T
X-ALD_c.788C>T phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.790A>T commonName c.790A>T
X-ALD_c.796G>A commonName 8, 16, 24, 33, 49, 52, 53, 59, 62, 72, 88, 93, 96
X-ALD_c.796G>A alias c.796G>A
X-ALD_c.796G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.797G>A commonName c.797G>A
X-ALD_c.799G>A commonName c.799G>A
X-ALD_c.799G>T commonName c.799G>T
X-ALD_c.799delG commonName c.799delG
X-ALD_c.811G>A commonName c.811G>A
X-ALD_c.815_817delAGG commonName c.815_17delAGG
X-ALD_c.818C>A commonName c.818C>A
X-ALD_c.818C>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.[820C>T;838C>T] commonName c.[820C>T;838C>T]
X-ALD_c.826A>G commonName 22, 86
X-ALD_c.826A>G alias c.826A>G
X-ALD_c.826A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.828_29insAAT commonName c.828_29insAAT
X-ALD_c.829G>A commonName 15, 33, 60, 90
X-ALD_c.829G>A alias c.829G>A
X-ALD_c.829G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.829G>C commonName c.829G>C
X-ALD_c.829G>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.829G>T commonName c.829G>T
X-ALD_c.830G>A commonName c.830G>A
X-ALD_c.832G>T commonName c.832G>T
X-ALD_c.832G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.836T>C commonName c.836T>C
X-ALD_c.836T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.838C>T commonName 33, 50, 60
X-ALD_c.838C>T alias c.838C>T
X-ALD_c.838C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.839G>T commonName 55, 93
X-ALD_c.839G>T alias c.839G>T
X-ALD_c.847C>T commonName c.847C>T
X-ALD_c.847C>G commonName 64, 93
X-ALD_c.847C>G alias c.847C>G
X-ALD_c.848A>G commonName 89, 93
X-ALD_c.848A>G alias c.848A>G
X-ALD_c.851C>A commonName c.851C>A
X-ALD_c.851C>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.852_53insACTC commonName 33, 82
X-ALD_c.852_53insACTC alias c.852_53insACTC
X-ALD_c.852_53insG commonName c.852_53insG
X-ALD_c.854G>C commonName 27, 49
X-ALD_c.854G>C alias c.854G>C
X-ALD_c.869C>G commonName c.869C>G
X-ALD_c.869C>A commonName c.869C>A
X-ALD_c.869C>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.871_873delGAG commonName 15, 22, 24, 31, 33, 49
X-ALD_c.871_873delGAG alias c.871_73delGAG
X-ALD_c.871_873delGAG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.871G>A commonName 5, 58, 60, 64
X-ALD_c.871G>A alias c.871G>A
X-ALD_c.871G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.873G>C commonName c.873G>C
X-ALD_c.873G>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.880G>A commonName 7, 32
X-ALD_c.880G>A alias c.880G>A
X-ALD_c.881C>T commonName c.881C>T
X-ALD_c.886_899del commonName c.886_99del14
X-ALD_c.886T>C commonName c.886T>C
X-ALD_c.887A>G commonName 24, 33, 49, 52, 62, 64, 88
X-ALD_c.887A>G alias c.887A>G
X-ALD_c.887A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.887A>C commonName c.887A>C
X-ALD_c.888T>G commonName c.888T>G
X-ALD_c.888T>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.892_896delinsGTCA commonName c.892_96delinsGTCA
X-ALD_c.892_896delinsGTCA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.893_894delinsT commonName c.893_94delinsT
X-ALD_c.893_894insG commonName c.893_894insG
X-ALD_c.892G>A commonName 32, 33
X-ALD_c.892G>A alias c.892G>A
X-ALD_c.893G>A commonName 29, 38, 58
X-ALD_c.893G>A alias c.893G>A
X-ALD_c.893G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.893G>T commonName c.893G>T
X-ALD_c.892_93insGC commonName c.892_93insGC
X-ALD_c.892_93insGC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.900G>A commonName 33, 53
X-ALD_c.900G>A alias c.900G>A
X-ALD_c.900+1G>T commonName 49, 64
X-ALD_c.900+1G>T alias c.900+1G>T
X-ALD_c.901-10C>T commonName c.901-10C>T
X-ALD_c.901-5C>A commonName c.901-5C>A
X-ALD_c.901-2A>C commonName c.901-2A>C
X-ALD_c.901-1G>A commonName 49, 62
X-ALD_c.901-1G>A alias c.901-1G>A
X-ALD_c.904G>A commonName 21, 72
X-ALD_c.904G>A alias c.904G>A
X-ALD_c.904G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.904G>C commonName c.904G>C
X-ALD_c.904G>C phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.905A>G commonName c.905A>G
X-ALD_c.910delG commonName c.910delG
X-ALD_c.919C>T commonName 62, 63
X-ALD_c.919C>T alias c.919C>T
X-ALD_c.931C>T commonName 2, 60
X-ALD_c.931C>T alias c.931C>T
X-ALD_c.931C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.933_34insA commonName c.933_34insA
X-ALD_c.933_34insA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.937delC commonName 35, 64
X-ALD_c.937delC alias c.937delC
X-ALD_c.938T>C commonName 33, 90
X-ALD_c.938T>C alias c.938T>C
X-ALD_c.940G>C commonName c.940G>C
X-ALD_c.943delT commonName c.943delT
X-ALD_c.943delT phenoCommon ALDP in fibroblasts is absent
X-ALD_c.944C>A commonName c.944C>A
X-ALD_c.965T>C commonName 26, 39, 62
X-ALD_c.965T>C alias c.965T>C
X-ALD_c.974T>C commonName c.974T>C
X-ALD_c.977G>A commonName 2, 60
X-ALD_c.977G>A alias c.977G>A
X-ALD_c.979_80insT commonName c.979_80insT
X-ALD_c.979_80insT phenoCommon ALDP in fibroblasts is absent
X-ALD_c.981T>A commonName c.981T>A
X-ALD_c.986T>G commonName c.986T>G
X-ALD_c.988_1005del commonName c.988_1005del18
X-ALD_c.991G>A commonName c.991G>A
X-ALD_c.994C>T commonName c.994C>T
X-ALD_c.994C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1001T>C commonName c.1001T>C
X-ALD_c.1004T>G commonName c.1004T>G
X-ALD_c.1007A>T commonName c.1007A>T
X-ALD_c.1008G>T commonName c.1008G>T
X-ALD_c.1009T>C commonName c.1009T>C
X-ALD_c.1011T>A commonName c.1011T>A
X-ALD_c.1016G>A commonName c.1016G>A
X-ALD_c.1024T>C commonName c.1024T>C
X-ALD_c.1024T>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.1027G>A commonName c.1027G>A
X-ALD_c.1028G>A commonName c.1028G>A
X-ALD_c.1028G>T commonName 64, 93
X-ALD_c.1028G>T alias c.1028G>T
X-ALD_c.1031T>C commonName c.1031T>C
X-ALD_c.1072T>C commonName c.1072T>C
X-ALD_c.1073C>G commonName c.1073C>G
X-ALD_c.1076_1077delAG commonName c.1076_77delAG
X-ALD_c.1079C>G commonName c.1079C>G
X-ALD_c.1081+1G>T commonName c.1081+1G>T
X-ALD_c.1082-3C>G commonName c.1082-3C>G
X-ALD_c.1082-3C>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1092delC commonName c.1092delC
X-ALD_c.1092_93insA commonName c.1092_93insA
X-ALD_c.1114A>T commonName c.1114A>T
X-ALD_c.1117_1119delAAG commonName c.1117_19delAAG
X-ALD_c.1135_36insC commonName c.1135_36insC
X-ALD_c.1135_36insC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1137_38insC commonName c.1137_38insC
X-ALD_c.1155delC commonName c.1155delC
X-ALD_c.1159delA commonName c.1159delA
X-ALD_c.1163_64insG commonName c.1163_64insG
X-ALD_c.1163_64insG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1165C>G commonName 15, 60
X-ALD_c.1165C>G alias c.1165C>G
X-ALD_c.1165C>T commonName c.1165C>T
X-ALD_c.1166G>A commonName 13, 16, 33, 60, 97
X-ALD_c.1166G>A alias c.1166G>A
X-ALD_c.1166G>A phenoCommon ALDP in fibroblasts is 41 ± 4%
X-ALD_c.1171_1180del commonName c.1171_80del10
X-ALD_c.1172T>C commonName c.1172T>C
X-ALD_c.1174C>G commonName 33, 88
X-ALD_c.1174C>G alias c.1174C>G
X-ALD_c.1186G>A commonName 33, 60
X-ALD_c.1186G>A alias c.1186G>A
X-ALD_c.1186G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1201C>T commonName 24, 29, 33, 51, 87, 88, 96
X-ALD_c.1201C>T alias c.1201C>T
X-ALD_c.1202G>A commonName 8, 15, 22, 29, 32, 33, 40, 47, 49,, 60, 71, 72, 86, 88, 93
X-ALD_c.1202G>A alias c.1202G>A
X-ALD_c.1202G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.1210T>C commonName c.1210T>C
X-ALD_c.1212_1214delGTC commonName c.1212_1214delGTC
X-ALD_c.1219A>T commonName c.1219A>T
X-ALD_c.1224G>A commonName 13, 33
X-ALD_c.1224G>A alias c.1224G>A
X-ALD_c.[1224+1GT>TG;1165C>T] commonName c.[1224+1GT>TG;1165C>T]
X-ALD_c.1224+2C>T commonName c.1224+2C>T
X-ALD_c.1225-7_1239del22 commonName c.1225-7_1239del22
X-ALD_c.1225-2A>C commonName c.1225-2A>C
X-ALD_c.1237G>A commonName c.1237G>A
X-ALD_c.1237G>C commonName c.1237G>C
X-ALD_c.1244A>G commonName c.1244A>G
X-ALD_c.1248delA commonName c.1248delA
X-ALD_c.1250delC commonName c.1250delC
X-ALD_c.1250delC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1252C>T commonName 8, 15, 28, 29, 33, 40, 58
X-ALD_c.1252C>T alias c.1252C>T
X-ALD_c.1252C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1263delG commonName c.1263delG
X-ALD_c.1270delC commonName c.1270delC
X-ALD_c.1279_1281delGAA commonName c.1279_81delGAA
X-ALD_c.1288C>T commonName 33, 49
X-ALD_c.1288C>T alias c.1288C>T
X-ALD_c.1315G>T commonName c.1315G>T
X-ALD_c.1315G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1322_23insA commonName c.1322_23insA
X-ALD_c.1322_23insA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1330C>T commonName 32, 60
X-ALD_c.1330C>T alias c.1330C>T
X-ALD_c.1359delT commonName c.1359delT
X-ALD_c.1359delT phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1372G>T commonName c.1372G>T
X-ALD_c.1390C>T commonName 6, 33, 49, 47, 64, 96
X-ALD_c.1390C>T alias c.1390C>T
X-ALD_c.1390C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1394-2A>G commonName 32, 75
X-ALD_c.1394-2A>G alias c.1394-2A>G
X-ALD_c.1396C>T commonName c.1396C>T
X-ALD_c.[1399G>A;1850G>A] commonName c.[1399G>A;1850G>A]
X-ALD_c.1411_12insA commonName c.1411_12insA
X-ALD_c.1412_1413delAA commonName c.1412_13delAA
X-ALD_c.1414_15insC commonName c.1414_15insC
X-ALD_c.1415_1416delAG commonName 1, 7, 8, 10, 13, 15, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 63, 64, 85, 86, 88, 93
X-ALD_c.1415_1416delAG alias c.1415_16delAG
X-ALD_c.1415_1416delAG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1416_1417delGG commonName c.1416_17delGG
X-ALD_c.1420delA commonName c.1420delA
X-ALD_c.1420delA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1422_1426delCATCT commonName c.1422_26delCATCT
X-ALD_c.1421T>C commonName 33, 88
X-ALD_c.1421T>C alias c.1421T>C
X-ALD_c.1429G>T commonName 8, 15, 33
X-ALD_c.1429G>T alias c.1429G>T
X-ALD_c.1430delA commonName c.1430delA
X-ALD_c.1436delT commonName c.1436delT
X-ALD_c.[1438C>A;901-5c>a] commonName c.[1438C>A;901-5c>a]
X-ALD_c.1451C>G commonName c.1451C>G
X-ALD_c.1451C>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1462_63insTGG commonName c.1462_63insTGG
X-ALD_c.1462_63insTGG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1469_1471delTGG commonName c.1469_71delTGG
X-ALD_c.1470_71insGTG commonName c.1470_71insGTG
X-ALD_c.1470_71insGTG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1478T>C commonName c.1478T>C
X-ALD_c.1481delA commonName c.1481delA
X-ALD_c.1488+1G>A commonName c.1488+1G>A
X-ALD_c.1499G>T commonName c.1499G>T
X-ALD_c.1501A>C commonName c.1501A>C
X-ALD_c.1501A>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.1505_06insC commonName c.1505_06insC
X-ALD_c.1508_09insC commonName c.1508_09insC
X-ALD_c.1508T>C commonName c.1508T>C
X-ALD_c.1514T>C commonName c.1514T>C
X-ALD_c.1515C>G commonName c.1515C>G
X-ALD_c.1515C>G phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1519G>A commonName c.1519G>A
X-ALD_c.1520G>A commonName 68, 88
X-ALD_c.1520G>A alias c.1520G>A
X-ALD_c.1520G>T commonName c.1520G>T
X-ALD_c.1523C>T commonName c.1523C>T
X-ALD_c.1526A>T commonName 33, 59
X-ALD_c.1526A>T alias c.1526A>T
X-ALD_c.1528G>A commonName c.1528G>A
X-ALD_c.1529G>A commonName 33, 64
X-ALD_c.1529G>A alias c.1529G>A
X-ALD_c.1531T>C commonName c.1531T>C
X-ALD_c.1532G>A commonName c.1532G>A
X-ALD_c.1533C>A commonName c.1533C>A
X-ALD_c.1534G>T commonName c.1534G>T
X-ALD_c.1534G>A commonName 7, 13, 23, 33, 57, 58, 76, 88, 93
X-ALD_c.1534G>A alias c.1534G>A
X-ALD_c.1534G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1537A>C commonName 33, 69
X-ALD_c.1537A>C alias c.1537A>C
X-ALD_c.1538A>G commonName c.1538A>G
X-ALD_c.1538A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1540A>C commonName c.1540A>C
X-ALD_c.1540A>G commonName c.1540A>G
X-ALD_c.1541G>A commonName c.1541G>A
X-ALD_c.1541G>A phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1544C>T commonName 8, 51
X-ALD_c.1544C>T alias c.1544C>T
X-ALD_c.1547T>C commonName 33, 58, 71
X-ALD_c.1547T>C alias c.1547T>C
X-ALD_c.1547T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1548G>A commonName c.1548G>A
X-ALD_c.1551delC commonName 6, 33
X-ALD_c.1551delC alias c.1551delC
X-ALD_c.1552C>G commonName c.1552C>G
X-ALD_c.1552C>T commonName 6, 7, 32, 33, 53, 58, 88
X-ALD_c.1552C>T alias c.1552C>T
X-ALD_c.1552C>T phenoCommon ALDP in fibroblasts is abs/red
X-ALD_c.1553G>A commonName 9, 24, 32, 33, 49, 48, 53, 58, 60, 64, 88, 96
X-ALD_c.1553G>A alias c.1553G>A
X-ALD_c.1553G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1559T>A commonName 54, 59
X-ALD_c.1559T>A alias c.1559T>A
X-ALD_c.1564G>A commonName 7, 58
X-ALD_c.1564G>A alias c.1564G>A
X-ALD_c.1564G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1567C>T commonName c.1567C>T
X-ALD_c.1568T>C commonName c.1568T>C
X-ALD_c.1570T>C commonName c.1570T>C
X-ALD_c.1571G>A commonName c.1571G>A
X-ALD_c.1571G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1573C>G commonName c.1573C>G
X-ALD_c.1573C>T commonName c.1573C>T
X-ALD_c.1573C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1585_1587delGGT commonName c.1585-87delGGT
X-ALD_c.1585delG commonName 21, 62
X-ALD_c.1585delG alias c.1585delG
X-ALD_c.1586_1590delGTGTG commonName c.1586_90delGTGTG
X-ALD_c.1586_1590delGTGTG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1585G>A commonName c.1585G>A
X-ALD_c.1586G>A commonName c.1586G>A
X-ALD_c.1592_93insT commonName c.1592_93insT
X-ALD_c.1597A>G commonName c.1597A>G
X-ALD_c.1597A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1599G>T commonName c.1599G>T
X-ALD_c.1600C>T commonName c.1600C>T
X-ALD_c.1601C>G commonName 67, 86
X-ALD_c.1601C>G alias c.1601C>G
X-ALD_c.1601C>T commonName c.1601C>T
X-ALD_c.1601C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1598_99insA commonName c.1598_99insA
X-ALD_c.1599delG commonName c.1599delG
X-ALD_c.1599delG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1603_1604delCC commonName c.1603_04delCC
X-ALD_c.1603_1991del commonName c.1603_1991del
X-ALD_c.1603_1991del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1607C>A commonName c.1607C>A
X-ALD_c.1609C>T commonName c.1609C>T
X-ALD_c.1619T>C commonName c.1619T>C
X-ALD_c.1619T>G commonName c.1619T>G
X-ALD_c.1624_1626delATC commonName c.1624_26delATC
X-ALD_c.1628delC commonName c.1628delC
X-ALD_c.1628C>T commonName 27, 29, 33, 40, 49, 60, 65
X-ALD_c.1628C>T alias c.1628C>T
X-ALD_c.1628C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1630C>A commonName c.1630C>A
X-ALD_c.1630C>A phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1631A>G commonName 9, 33, 24, 88
X-ALD_c.1631A>G alias c.1631A>G
X-ALD_c.1631A>G phenoCommon ALDP in fibroblasts is present
X-ALD_c.1628_34duplication commonName c.1628_34duplication
X-ALD_c.1628_34duplication phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1633A>T commonName c.1633A>T
X-ALD_c.1634+1G>A commonName 6, 60
X-ALD_c.1634+1G>A alias c.1634+1G>A
X-ALD_c.1634+1G>C commonName c.1634+1G>C
X-ALD_c.1635-2A>G commonName c.1635-2A>G
X-ALD_c.1635-2A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1654T>C commonName c.1654T>C
X-ALD_c.1654T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1657C>G commonName c.1657C>G
X-ALD_c.1661G>A commonName 28, 29, 33, 49, 52, 58, 60, 63, 64, 87, 88, 97
X-ALD_c.1661G>A alias c.1661G>A
X-ALD_c.1661G>A phenoCommon ALDP in fibroblasts is 1 ± 0.5%
X-ALD_c.1663G>A commonName c.1663G>A
X-ALD_c.1666C>T commonName c.1666C>T
X-ALD_c.1666C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1667A>G commonName 40, 59
X-ALD_c.1667A>G alias c.1667A>G
X-ALD_c.1670_1671delTG commonName c.1670_71delTG
X-ALD_c.1673T>C commonName c.1673T>C
X-ALD_c.1673T>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.1676A>G commonName c.1676A>G
X-ALD_c.1678C>T commonName c.1678C>T
X-ALD_c.1679C>T commonName 4, 7, 24, 33, 49, 71, 86, 88, 93, 96
X-ALD_c.1679C>T alias c.1679C>T
X-ALD_c.1679C>T phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1679C>G commonName c.1679C>G
X-ALD_c.1679C>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1682A>T commonName c.1682A>T
X-ALD_c.1682A>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1697T>A commonName c.1697T>A
X-ALD_c.1697T>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1697T>C commonName c.1697T>C
X-ALD_c.1697T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1699C>T commonName 33, 60
X-ALD_c.1699C>T alias c.1699C>T
X-ALD_c.1714_1725del commonName c.1714_1725del12
X-ALD_c.1715C>A commonName c.1715C>A
X-ALD_c.1715C>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1717delG commonName c.1717delG
X-ALD_c.1720C>T commonName 53, 58
X-ALD_c.1720C>T alias c.1720C>T
X-ALD_c.1720C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1727T>C commonName c.1727T>C
X-ALD_c.1746delC commonName c.1746delC
X-ALD_c.1748T>G commonName c.1748T>G
X-ALD_c.1754T>C commonName c.1754T>C
LQTS_NM_000238.2:c.87C>A commonName 87C>A
LQTS_NM_000238.2:c.87C>A protEffect F29L
LQTS_NM_000238.2:c.98A>C commonName 98A>C
LQTS_NM_000238.2:c.98A>C protEffect N33T
LQTS_NM_000238.2:c.132C>A commonName 132C>A
LQTS_NM_000238.2:c.132C>A protEffect C44X
LQTS_NM_000238.2:c.140G>T commonName 140G>T
LQTS_NM_000238.2:c.140G>T protEffect G47V
LQTS_NM_000238.2:c.157G>C commonName 157G>C
LQTS_NM_000238.2:c.157G>C protEffect G53R
LQTS_NM_000238.2:c.167G>A commonName 167G>A
LQTS_NM_000238.2:c.167G>A protEffect R56Q
LQTS_NM_000238.2:c.196T>G commonName 196T>G
LQTS_NM_000238.2:c.196T>G protEffect C66G
LQTS_NM_000238.2:c.209A>G commonName 209A>G
LQTS_NM_000238.2:c.209A>G protEffect H70R
LQTS_NM_000238.2:c.215C>A commonName 215C>A
LQTS_NM_000238.2:c.215C>A protEffect P72Q
LQTS_NM_000238.2:c.221_251del commonName 221-251del
LQTS_NM_000238.2:c.221_251del protEffect 31 bp deletion
LQTS_NM_000238.2:c.234_250dup commonName 234-250dup
LQTS_NM_000238.2:c.234_250dup protEffect 16 bp duplication
LQTS_NM_000238.2:p.A78P commonName A78P
LQTS_NM_000238.2:p.A78P protEffect p.A78P
LQTS_NM_000238.2:c.241C>T commonName 241C>T
LQTS_NM_000238.2:c.241C>T protEffect Q81X
LQTS_NM_000238.2:c.257T>G commonName 257G>T
LQTS_NM_000238.2:c.257T>G protEffect L86R
LQTS_NM_000238.2:c.260T>C commonName 260T>C
LQTS_NM_000238.2:c.260T>C protEffect L87P
LQTS_NM_000238.2:c.287T>C commonName 287T>C
LQTS_NM_000238.2:c.287T>C protEffect I96T
LQTS_NM_000238.2:c.296A>C commonName 296A>C
LQTS_NM_000238.2:c.296A>C protEffect Y99S
LQTS_NM_000238.2:c.391G>A commonName 391A>G
LQTS_NM_000238.2:c.391G>A protEffect K101E
LQTS_NM_000238.2:p.M124R commonName M124R
LQTS_NM_000238.2:p.M124R protEffect p.M124R
LQTS_NM_000238.2:c.453delC commonName 453delC
LQTS_NM_000238.2:c.453delC protEffect 1 bp deletion
LQTS_NM_000238.2:c.526C>T commonName 526C>T
LQTS_NM_000238.2:c.526C>T protEffect R176W
LQTS_NM_000238.2:c.558_600dup commonName 558-600dup
LQTS_NM_000238.2:c.558_600dup protEffect 42 bp duplication
LQTS_NM_000238.2:c.934C>T commonName 934C>T
LQTS_NM_000238.2:c.934C>T protEffect R312C
LQTS_NM_000238.2:c.1039C>T commonName 1039C>T
LQTS_NM_000238.2:c.1039C>T protEffect P347S
LQTS_NM_000238.2:c.1096C>T commonName 1096C>T
LQTS_NM_000238.2:c.1096C>T protEffect R366X
LQTS_NM_000238.2:c.1128G>A commonName 1128G>A
LQTS_NM_000238.2:c.1129-2G>A commonName 1129-2 G>A
LQTS_NM_000238.2:c.1199T>A commonName 1199T>A
LQTS_NM_000238.2:c.1199T>A protEffect I100N
LQTS_NM_000238.2:c.1261delA commonName 1261delA
LQTS_NM_000238.2:c.1261delA protEffect 1 bp deletion
LQTS_NM_000238.2:c.1283C>A commonName 1283C>A
LQTS_NM_000238.2:c.1283C>A protEffect S428X
LQTS_NM_000238.2:p.S428L commonName S428L
LQTS_NM_000238.2:p.S428L protEffect p.S428L
LQTS_NM_000238.2:c.1307C>T commonName 1307C>T
LQTS_NM_000238.2:c.1307C>T protEffect T436M
LQTS_NM_000238.2:c.1341C>A commonName 1341C>A
LQTS_NM_000238.2:c.1341C>A protEffect Y447X
LQTS_NM_000238.2:c.1352C>T commonName 1352C>T
LQTS_NM_000238.2:c.1352C>T protEffect P451L
LQTS_NM_000238.2:c.1408A>G commonName 1408A>G
LQTS_NM_000238.2:c.1408A>G protEffect N470D
LQTS_NM_000238.2:c.1421C>T commonName 1421C>T
LQTS_NM_000238.2:c.1421C>T protEffect T474I
LQTS_NM_000238.2:c.1479C>G commonName 1479C>G
LQTS_NM_000238.2:c.1479C>G protEffect Y493X
LQTS_NM_000238.2:c.1496_1523del commonName 1496-1523dle
LQTS_NM_000238.2:c.1496_1523del protEffect I500-F508del
LQTS_NM_000238.2:c.1501G>A commonName 1501A>G
LQTS_NM_000238.2:c.1501G>A protEffect D501N
LQTS_NM_000238.2:c.1592G>A commonName 1592G>A
LQTS_NM_000238.2:c.1592G>A protEffect R531Q
LQTS_NM_000238.2:p.L552S commonName L552S
LQTS_NM_000238.2:p.L552S protEffect p.L552S
LQTS_NM_000238.2:c.1600C>T commonName 1600C>T
LQTS_NM_000238.2:c.1600C>T protEffect R635C
LQTS_NM_000238.2:c.1655T>C commonName 1655T>C
LQTS_NM_000238.2:c.1655T>C protEffect L552S
LQTS_NM_000238.2:c.1672G>C commonName 1672G>C
LQTS_NM_000238.2:c.1672G>C protEffect A558P
LQTS_NM_000238.2:c.1681G>A commonName 1681G>A
LQTS_NM_000238.2:c.1681G>A protEffect A561T
LQTS_NM_000238.2:c.1682C>T commonName 1682C>T
LQTS_NM_000238.2:c.1682C>T protEffect A561V
LQTS_NM_000238.2:c.1691T>C commonName 1691T>C
LQTS_NM_000238.2:c.1691T>C protEffect L564P
LQTS_NM_000238.2:c.1705T>C commonName 1705T>C
LQTS_NM_000238.2:c.1705T>C protEffect Y569H
LQTS_NM_000238.2:c.1714G>C commonName 1714G>C
LQTS_NM_000238.2:c.1714G>C protEffect G572R
LQTS_NM_000238.2:c.1714G>T commonName 1714G>T
LQTS_NM_000238.2:c.1714G>T protEffect G572C
LQTS_NM_000238.2:c.1750G>A commonName 1750G>A
LQTS_NM_000238.2:c.1750G>A protEffect W585C
LQTS_NM_000238.2:c.1755G>T commonName 1755G>T
LQTS_NM_000238.2:c.1755G>T protEffect W585C
LQTS_NM_000238.2:c.1762A>G commonName 1762A>G
LQTS_NM_000238.2:c.1762A>G protEffect N588D
LQTS_NM_000238.2:c.1778T>C commonName 1778T>C
LQTS_NM_000238.2:c.1778T>C protEffect I593R
LQTS_NM_000238.2:c.1778T>G commonName 1778T>G
LQTS_NM_000238.2:c.1778T>G protEffect I593G
LQTS_NM_000238.2:p.I593X commonName I593X
LQTS_NM_000238.2:p.I593X protEffect p.I593X
LQTS_NM_000238.2:p.P596L commonName P596L
LQTS_NM_000238.2:p.P596L protEffect p.P596L
LQTS_NM_000238.2:c.1801G>A commonName 1801G>A
LQTS_NM_000238.2:c.1801G>A protEffect G601S
LQTS_NM_000238.2:c.1810G>A commonName 1810G>A
LQTS_NM_000238.2:c.1810G>A protEffect G604S
LQTS_NM_000238.2:c.1825G>A commonName 1825G>A
LQTS_NM_000238.2:c.1825G>A protEffect D609N
LQTS_NM_000238.2:c.1831T>C commonName 1831T>C
LQTS_NM_000238.2:c.1831T>C protEffect Y611H
LQTS_NM_000238.2:c.1833T>A/G commonName 1833T>A/G
LQTS_NM_000238.2:c.1833T>A/G protEffect Y611X
LQTS_NM_000238.2:c.1834G>T commonName 1834G>T
LQTS_NM_000238.2:c.1834G>T protEffect V612L
LQTS_NM_000238.2:c.1838C>T commonName 1838C>T
LQTS_NM_000238.2:c.1838C>T protEffect T613M
LQTS_NM_000238.2:c.1862G>A commonName 1862G>A
LQTS_NM_000238.2:c.1862G>A protEffect S621N
LQTS_NM_000238.2:c.1876G>A commonName 1876G>A
LQTS_NM_000238.2:c.1876G>A protEffect G626S
LQTS_NM_000238.2:c.1877G>T commonName 1877G>T
LQTS_NM_000238.2:c.1877G>T protEffect G626V
LQTS_NM_000238.2:c.1881C>G commonName 1881G>C
LQTS_NM_000238.2:c.1881C>G protEffect F627L
LQTS_NM_000238.2:c.1882G>A commonName 1882G>A
LQTS_NM_000238.2:c.1882G>A protEffect G628S
LQTS_NM_000238.2:c.1885A>G commonName 1885A>G
LQTS_NM_000238.2:c.1885A>G protEffect N629D
LQTS_NM_000238.2:c.1886A>G commonName 1886A>G
LQTS_NM_000238.2:c.1886A>G protEffect N629S
LQTS_NM_000238.2:p.N629K commonName N629K
LQTS_NM_000238.2:p.N629K protEffect p.N629K
LQTS_NM_000238.2:c.1888G>C commonName 1888G>C
LQTS_NM_000238.2:c.1888G>C protEffect V630L
LQTS_NM_000238.2:c.1889T>C commonName 1889T>C
LQTS_NM_000238.2:c.1889T>C protEffect V630A
LQTS_NM_000238.2:c.1894C>T commonName 1894C>T
LQTS_NM_000238.2:c.1894C>T protEffect P632S
LQTS_NM_000238.2:c.1898A>G commonName 1898A>G
LQTS_NM_000238.2:c.1898A>G protEffect N633S
LQTS_NM_000238.2:c.1912A>G commonName 1912A>G
LQTS_NM_000238.2:c.1912A>G protEffect K638E
LQTS_NM_000238.2:c.1913_1915del commonName 1913-15del
LQTS_NM_000238.2:c.1913_1915del protEffect K638del
LQTS_NM_000238.2:c.1920C>A commonName 1920C>A
LQTS_NM_000238.2:c.1920C>A protEffect F640L
LQTS_NM_000238.2:c.1933A>T commonName 1933A>T
LQTS_NM_000238.2:c.1933A>T protEffect M645L
LQTS_NM_000238.2:c.1951_1952delAT commonName 1951-1952delAT
LQTS_NM_000238.2:c.1951_1952delAT protEffect 2 bp deletion
LQTS_NM_000238.2:c.2001C>A commonName 2001C>A
LQTS_NM_000238.2:c.2001C>A protEffect Y667X
LQTS_NM_000238.2:c.2044G>T commonName 2044G>T
LQTS_NM_000238.2:c.2044G>T protEffect E682X
LQTS_NM_000238.2:c.2092G>T commonName 2092G>T
LQTS_NM_000238.2:c.2092G>T protEffect E698X
LQTS_NM_000238.2:c.2173C>T commonName 2173C>T
LQTS_NM_000238.2:c.2173C>T protEffect Q725X
LQTS_NM_000238.2:c.2254C>T commonName 2254C>T
LQTS_NM_000238.2:c.2254C>T protEffect R752W
LQTS_NM_000238.2:c.2350C>T commonName 2350C>T
LQTS_NM_000238.2:c.2350C>T protEffect R784W
LQTS_NM_000238.2:c.2356_2376dup commonName 2356-2376dup
LQTS_NM_000238.2:c.2356_2376dup protEffect 31 bp duplication
LQTS_NM_000238.2:c.2395delC commonName 2395delC
LQTS_NM_000238.2:c.2395delC protEffect 1 bp deletion
LQTS_NM_000238.2:c.2398+1G>C commonName 2398+1G>C
LQTS_NM_000238.2:c.2398+1G>C protEffect IVS9 DS+1
LQTS_NM_000238.2:c.2414T>C commonName 2414T>C
LQTS_NM_000238.2:c.2414T>C protEffect F805S
LQTS_NM_000238.2:c.2414T>G commonName 2414T>G
LQTS_NM_000238.2:c.2414T>G protEffect F805C
LQTS_NM_000238.2:c.2453C>T commonName 2453C>T
LQTS_NM_000238.2:c.2453C>T protEffect S818L
LQTS_NM_000238.2:c.2464G>A commonName 2464G>A
LQTS_NM_000238.2:c.2464G>A protEffect V822M
LQTS_NM_000238.2:c.2467C>T commonName 2467C>T
LQTS_NM_000238.2:c.2467C>T protEffect R823W
LQTS_NM_000238.2:c.2582A>T commonName 2582A>T
LQTS_NM_000238.2:c.2582A>T protEffect N861I
LQTS_NM_000238.2:c.2592+1G>A commonName 2592+1G>A
LQTS_NM_000238.2:c.2592+1G>A protEffect IVS1+ DS+1
LQTS_NM_000238.2:c.2616delC commonName 2616delC
LQTS_NM_000238.2:c.2616delC protEffect P872fs877
LQTS_NM_000238.2:c.2660delG commonName 2660delG
LQTS_NM_000238.2:c.2660delG protEffect 1 bp deletion
LQTS_NM_000238.2:c.2750C>T commonName 2750C>T
LQTS_NM_000238.2:c.2750C>T protEffect P917L
LQTS_NM_000238.2:c.2764C>T commonName 2764C>T
LQTS_NM_000238.2:c.2764C>T protEffect R922W
LQTS_NM_000238.2:c.2906delG commonName 2906delG
LQTS_NM_000238.2:c.2906delG protEffect 1 bp deletion
LQTS_NM_000238.2:p.W1001X commonName W1001X
LQTS_NM_000238.2:p.W1001X protEffect p.W1001X
LQTS_NM_000238.2:c.3040C>T commonName 3040C>T
LQTS_NM_000238.2:c.3040C>T protEffect R1014X
LQTS_NM_000238.2:c.3094delC commonName 3094delC
LQTS_NM_000238.2:c.3094delC protEffect 1 bp deletion
LQTS_NM_000238.2:c.2690A>C commonName 2690A>C
LQTS_NM_000238.2:c.2690A>C protEffect K897T
LQTS_NM_000238.2:p.R1047L commonName R1047L
LQTS_NM_000238.2:p.R1047L protEffect p.R1047L
LQTS_NM_000238.2:c.1467C>T commonName 1467C>T
LQTS_NM_000238.2:c.1467C>T protEffect I489I
LQTS_NM_000238.2:c.1539C>T commonName 1539C>T
LQTS_NM_000238.2:c.1539C>T protEffect F513F
LQTS_NM_000238.2:c.1692A>G commonName 1692A>G
LQTS_NM_000238.2:c.1692A>G protEffect L564L
LQTS_NM_000238.2:c.1956T>C commonName 1956T>C
LQTS_NM_000238.2:c.1956T>C protEffect Y652Y
LQTS_NM_000238.2:c.2965+22A>G commonName 2965+22 A>G
LQTS_NM_000238.2:c.2965+22A>G protEffect Intronic; variant
LQTS_4557686:c.20C>T;226G>A commonName 20C>T, 226G>A
LQTS_4557686:c.20C>T;226G>A protEffect T71I, D76N
LQTS_4557686:c.95G>A commonName 95G>A
LQTS_4557686:c.95G>A protEffect R32H
LQTS_4557686:c.95G>A phenoCommon Romano-Ward syndrome
LQTS_4557686:c.139G>T commonName 139G>T
LQTS_4557686:c.139G>T protEffect V47F; L51H
LQTS_4557686:c.139G>T phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_4557686:c.172A>C;176T>C;177G>T commonName 172A>C; 176T>C; 177G>T
LQTS_4557686:c.172A>C;176T>C;177G>T protEffect T58P; L59P
LQTS_4557686:c.221C>T commonName 221C>T
LQTS_4557686:c.221C>T protEffect S74L
LQTS_4557686:c.221C>T phenoCommon Romano-Ward syndrome
LQTS_4557686:c.226G>A commonName 226G>A
LQTS_4557686:c.226G>A protEffect D76L
LQTS_4557686:c.226G>A phenoCommon RWS, JLNS
LQTS_4557686:c.259T>C commonName 259T>C
LQTS_4557686:c.259T>C protEffect W87R
LQTS_4557686:c.259T>C phenoCommon Romano-Ward syndrome
LQTS_4557686:c.292C>T commonName 292C>T
LQTS_4557686:c.292C>T protEffect R98W
LQTS_4557686:c.292C>T phenoCommon Romano-Ward syndrome
LQTS_4557686:c.325G>A commonName 325G>A
LQTS_4557686:c.325G>A protEffect V109I
LQTS_4557686:c.325G>A phenoCommon Romano-Ward syndrome
LQTS_4557686:c.379C>A commonName 379C>A
LQTS_4557686:c.379C>A protEffect P127T
LQTS_4557686:c.379C>A phenoCommon Romano-Ward syndrome
LQTS_4557686:c.112G>A commonName 112A>G
LQTS_4557686:c.112G>A protEffect S38G
LQTS_4557686:c.112G>A phenoCommon Normal; variant
LQTS_4557686:c.253G>A commonName 253G>A
LQTS_4557686:c.253G>A protEffect D85N
LQTS_4557686:c.253G>A phenoCommon Normal; variant
LQTS_NM_000335.4:c.376A>G commonName 376A>G
LQTS_NM_000335.4:c.376A>G protEffect K126E
LQTS_NM_000335.4:c.376A>G phenoCommon Ideopathic ventricular fiblillation
LQTS_NM_000335.4:c.892G>A commonName 892G>A
LQTS_NM_000335.4:c.892G>A protEffect G298S
LQTS_NM_000335.4:c.1052G>T commonName 1052G>T
LQTS_NM_000335.4:c.1052G>T protEffect G351V
LQTS_NM_000335.4:c.1052G>T phenoCommon Ideopathic ventricular fiblillation
LQTS_NM_000335.4:p.L619F commonName L619F
LQTS_NM_000335.4:p.L619F protEffect p.L619F
LQTS_NM_000335.4:c.2989G>T commonName 2989G>T
LQTS_NM_000335.4:c.2989G>T protEffect A997S
LQTS_NM_000335.4:c.3305C>A commonName 3305C>A
LQTS_NM_000335.4:c.3305C>A protEffect S1102Y
LQTS_NM_000335.4:p.E1295K commonName E1295K
LQTS_NM_000335.4:p.E1295K protEffect p.E1295K
LQTS_NM_000335.4:c.3816delG commonName 3816delG
LQTS_NM_000335.4:c.3816delG protEffect L1229ter/; Splice
LQTS_NM_000335.4:c.3816delG phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.4372T>G commonName 4372G>T
LQTS_NM_000335.4:c.4372T>G protEffect G1406R
LQTS_NM_000335.4:p.R1432G commonName R1432G
LQTS_NM_000335.4:p.R1432G protEffect p.R1432G
LQTS_NM_000335.4:c.4501G>C commonName 4501 C>G
LQTS_NM_000335.4:c.4501G>C protEffect L1501V
LQTS_NM_000335.4:c.4501G>C phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.4511_4520del commonName 4511-4520del
LQTS_NM_000335.4:c.4511_4520del protEffect 1505-1507delKPQ
LQTS_NM_000335.4:c.4511_4520del phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:p.R1512W commonName R1512W
LQTS_NM_000335.4:p.R1512W protEffect p.R1512W
LQTS_NM_000335.4:c.4850_4852del commonName 4850-4852del
LQTS_NM_000335.4:c.4850_4852del protEffect 1617delF
LQTS_NM_000335.4:c.4850_4852del phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.4868T>G commonName 4868 G>T
LQTS_NM_000335.4:c.4868T>G protEffect R1623L
LQTS_NM_000335.4:c.4868T>G phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.4934T>C commonName 4934 C>T
LQTS_NM_000335.4:c.4934T>C protEffect T1645M
LQTS_NM_000335.4:c.4934T>C phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.4999A>G commonName 4999G>A
LQTS_NM_000335.4:c.4999A>G protEffect I1667V
LQTS_NM_000335.4:c.5227A>G commonName 5227G>A
LQTS_NM_000335.4:c.5227A>G protEffect G1743R
LQTS_NM_000335.4:c.5227A>G phenoCommon Brugada
LQTS_NM_000335.4:c.5298C>A commonName 5298A>C
LQTS_NM_000335.4:c.5298C>A protEffect M1766L
LQTS_NM_000335.4:c.5298C>A phenoCommon Ideopathic ventricular fiblillation
LQTS_NM_000335.4:c.5302G>A commonName 5302A>G
LQTS_NM_000335.4:c.5302G>A protEffect I1768V
LQTS_NM_000335.4:c.5329G>A commonName 5329G>A
LQTS_NM_000335.4:c.5329G>A protEffect V1777M
LQTS_NM_000335.4:c.5349G>A commonName 5349 G>A
LQTS_NM_000335.4:c.5349G>A protEffect E1784K
LQTS_NM_000335.4:c.5349G>A phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:c.5360A>G commonName 5360 G>A
LQTS_NM_000335.4:c.5360A>G protEffect S1787N
LQTS_NM_000335.4:c.5360A>G phenoCommon Romano-Ward syndrome
LQTS_NM_000335.4:p.Y1795C commonName Y1795C
LQTS_NM_000335.4:p.Y1795C protEffect p.Y1795C
LQTS_NM_000335.4:p.Y1975H commonName Y1975H
LQTS_NM_000335.4:p.Y1975H protEffect p.Y1975H
LQTS_NM_000335.4:c.1673A>G commonName 1673 A>G
LQTS_NM_000335.4:c.1673A>G protEffect H555R
LQTS_NM_000335.4:c.4500G>T commonName 4500 G>T
LQTS_NM_000335.4:c.4500G>T protEffect K1500N
LQTS_NM_000335.4:c.1017C>T commonName 1017 C>T
LQTS_NM_000335.4:c.1017C>T protEffect Y339Y
LQTS_NM_000335.4:c.4299+53T>C commonName 4299 +53 T>C
LQTS_NM_000335.4:c.4299+53T>C protEffect Intronic variant
LQTS_NM_000335.4:c.5454T>C commonName 5454 C>T
LQTS_NM_000335.4:c.5454T>C protEffect A1818A
LQTS_NM_000335.4:c.5457C>T commonName 5457 C>T
LQTS_NM_000335.4:c.5457C>T protEffect D1819D
LQTS_NM_005136.2:c.25C>G commonName 25C>G
LQTS_NM_005136.2:c.25C>G protEffect Q9E
LQTS_NM_005136.2:c.25C>G phenoCommon Arrthymia
LQTS_NM_005136.2:c.161T>C commonName 161T>C
LQTS_NM_005136.2:c.161T>C protEffect M54T
LQTS_NM_005136.2:c.161T>C phenoCommon Arrthymia
LQTS_NM_005136.2:c.193G>A commonName 193G>A
LQTS_NM_005136.2:c.193G>A protEffect V65M
LQTS_NM_005136.2:c.193G>A phenoCommon Arrthymia
LQTS_NM_005136.2:c.170T>C commonName 170T>C
LQTS_NM_005136.2:c.170T>C protEffect I57T
LQTS_NM_005136.2:c.170T>C phenoCommon Arrthymia
LQTS_NM_005136.2:c.420C>T commonName 420C>T
LQTS_NM_005136.2:c.420C>T protEffect A116V
LQTS_NM_005136.2:c.420C>T phenoCommon Arrthymia
LQTS_NM_005136.2:c.22A>G commonName 22A>G
LQTS_NM_005136.2:c.22A>G protEffect T8A
LQTS_NM_005136.2:c.22A>G phenoCommon Normal variant
LQTS_NM_005136.2:c.-28A>G commonName -28 A/G
LQTS_AF000571.1:c.211_219del commonName 211-219del
LQTS_AF000571.1:c.211_219del protEffect 71-73 delAAP
LQTS_AF000571.1:c.211_219del phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.332A>G commonName 332 A>G
LQTS_AF000571.1:c.332A>G protEffect Y111C
LQTS_AF000571.1:c.332A>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.341T>C commonName 341T>C
LQTS_AF000571.1:c.341T>C protEffect L114P
LQTS_AF000571.1:c.470T>G commonName 470 T>G
LQTS_AF000571.1:c.470T>G protEffect F157C
LQTS_AF000571.1:c.470T>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.478G>A commonName 478 G>A
LQTS_AF000571.1:c.478G>A protEffect E160K
LQTS_AF000571.1:c.478G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.500_502del commonName 500-2 del
LQTS_AF000571.1:c.500_502del protEffect F167W/ del168G
LQTS_AF000571.1:c.500_502del phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.502G>C commonName 502 G>C
LQTS_AF000571.1:c.502G>C protEffect G168R
LQTS_AF000571.1:c.502G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.504delG commonName 504delG
LQTS_AF000571.1:c.504delG phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.513C>G commonName 513C>G
LQTS_AF000571.1:c.513C>G protEffect Y171X
LQTS_AF000571.1:c.513C>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.520C>T commonName 520C>T
LQTS_AF000571.1:c.520C>T protEffect R174C
LQTS_AF000571.1:c.520C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.521G>A commonName 521G>A
LQTS_AF000571.1:c.521G>A protEffect R174H
LQTS_AF000571.1:c.521G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.532G>C commonName 532G>C
LQTS_AF000571.1:c.532G>C protEffect A178P
LQTS_AF000571.1:c.532G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.532G>A commonName 532G>A
LQTS_AF000571.1:c.532G>A protEffect G178T
LQTS_AF000571.1:c.532G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.535G>A commonName 535 G>A
LQTS_AF000571.1:c.535G>A protEffect G179S
LQTS_AF000571.1:c.535G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.551A>C commonName 551A>C
LQTS_AF000571.1:c.551A>C protEffect Y184S
LQTS_AF000571.1:c.551A>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.565G>A commonName 565G>A
LQTS_AF000571.1:c.565G>A protEffect G189R
LQTS_AF000571.1:c.565G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.569G>A commonName 569G>A
LQTS_AF000571.1:c.569G>A protEffect R190Q
LQTS_AF000571.1:c.569G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.572_576del commonName 572-76del
LQTS_AF000571.1:c.572_576del phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_AF000571.1:p.F193L commonName F193L
LQTS_AF000571.1:p.F193L protEffect p.F193L
LQTS_AF000571.1:c.580G>C commonName 580G>C
LQTS_AF000571.1:c.580G>C protEffect A194P
LQTS_AF000571.1:c.580G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.674C>T commonName 674C>T
LQTS_AF000571.1:c.674C>T protEffect S225L
LQTS_AF000571.1:c.674C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.724G>A commonName 724G>A
LQTS_AF000571.1:c.724G>A protEffect D242N
LQTS_AF000571.1:c.724G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.727C>T commonName 727C>T
LQTS_AF000571.1:c.727C>T protEffect R243C
LQTS_AF000571.1:c.727C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.728G>A commonName 728G>A
LQTS_AF000571.1:c.728G>A protEffect R243H
LQTS_AF000571.1:c.728G>A phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_AF000571.1:c.742T>A commonName 742T>A
LQTS_AF000571.1:c.742T>A protEffect W248R
LQTS_AF000571.1:c.742T>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:p.L251P commonName L251P
LQTS_AF000571.1:p.L251P protEffect p.L251P
LQTS_AF000571.1:c.760G>A commonName 760G>A
LQTS_AF000571.1:c.760G>A protEffect V254M
LQTS_AF000571.1:c.760G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.775C>T commonName 775C>T
LQTS_AF000571.1:c.775C>T protEffect R259C
LQTS_AF000571.1:c.775C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.781G>A commonName 781G>A
LQTS_AF000571.1:c.781G>A protEffect E261K
LQTS_AF000571.1:c.781G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.783G>C commonName 783G>C
LQTS_AF000571.1:c.783G>C protEffect E261D
LQTS_AF000571.1:c.783G>C phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_AF000571.1:c.797T>A commonName 797T>A
LQTS_AF000571.1:c.797T>A protEffect L266P
LQTS_AF000571.1:c.797T>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.805G>A commonName 805G>A
LQTS_AF000571.1:c.805G>A protEffect G269S
LQTS_AF000571.1:c.805G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.806G>A commonName 806G>A
LQTS_AF000571.1:c.806G>A protEffect G269D
LQTS_AF000571.1:c.806G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.817C>T commonName 817C>T
LQTS_AF000571.1:c.817C>T protEffect L273F
LQTS_AF000571.1:c.817C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.842A>G commonName 842A>G
LQTS_AF000571.1:c.842A>G protEffect Y281C
LQTS_AF000571.1:c.842A>G phenoCommon Romano-Ward syndrome, recessive/with variable penetrans
LQTS_AF000571.1:c.898G>A commonName 898G>A
LQTS_AF000571.1:c.898G>A protEffect A300T
LQTS_AF000571.1:c.898G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans
LQTS_AF000571.1:c.914G>C commonName 914G>C
LQTS_AF000571.1:c.914G>C protEffect W305S
LQTS_AF000571.1:c.914G>C phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_AF000571.1:c.914G>A commonName 914G>A
LQTS_AF000571.1:c.914G>A protEffect W305X
LQTS_AF000571.1:c.916G>A commonName 916G>A
LQTS_AF000571.1:c.916G>A protEffect G306R
LQTS_AF000571.1:c.916G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.921+1G>T commonName 921+1 G>T
LQTS_AF000571.1:c.921+1G>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.922-2A>C commonName 922-2A>C
LQTS_AF000571.1:c.922-2A>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.922-1G>C commonName 922-1G>C
LQTS_AF000571.1:c.922-1G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.926C>G commonName 926C>G
LQTS_AF000571.1:c.926C>G protEffect T309R
LQTS_AF000571.1:c.926C>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.926C>T commonName 926C>T
LQTS_AF000571.1:c.926C>T protEffect T309I
LQTS_AF000571.1:c.928G>A commonName 928G>A
LQTS_AF000571.1:c.928G>A protEffect V310I
LQTS_AF000571.1:c.928G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.932C>T commonName 932C>T
LQTS_AF000571.1:c.932C>T protEffect T311I
LQTS_AF000571.1:c.932C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.935C>T commonName 935C>T
LQTS_AF000571.1:c.935C>T protEffect T312I
LQTS_AF000571.1:c.935C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.939C>G commonName 939C>G
LQTS_AF000571.1:c.939C>G protEffect I313M
LQTS_AF000571.1:c.939C>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.940G>A commonName 940G>A
LQTS_AF000571.1:c.940G>A protEffect G314S
LQTS_AF000571.1:c.940G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.940G>T commonName 940G>T
LQTS_AF000571.1:c.940G>T protEffect G314C
LQTS_AF000571.1:c.944A>C commonName 944A>C
LQTS_AF000571.1:c.944A>C protEffect Y315S
LQTS_AF000571.1:c.944A>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.944A>G commonName 944A>G
LQTS_AF000571.1:c.944A>G protEffect Y315C
LQTS_AF000571.1:c.944A>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.946G>C commonName 946G>C
LQTS_AF000571.1:c.946G>C protEffect G316R
LQTS_AF000571.1:c.949G>A commonName 949G>A
LQTS_AF000571.1:c.949G>A protEffect D317N
LQTS_AF000571.1:c.949G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.954G>C commonName 954G>C
LQTS_AF000571.1:c.954G>C protEffect K318N
LQTS_AF000571.1:c.954G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.958C>G commonName 958C>G
LQTS_AF000571.1:c.958C>G protEffect P320A
LQTS_AF000571.1:c.958C>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.973G>A commonName 973G>A
LQTS_AF000571.1:c.973G>A protEffect G325R
LQTS_AF000571.1:c.973G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1008delC commonName 1008delC
LQTS_AF000571.1:c.1008delC phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1015_1017del commonName 1015-17del
LQTS_AF000571.1:c.1015_1017del protEffect 339del F
LQTS_AF000571.1:c.1015_1017del phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1017_1019del commonName 1017-19del
LQTS_AF000571.1:c.1017_1019del protEffect 340del F
LQTS_AF000571.1:c.1017_1019del phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1022C>A commonName 1022C>A
LQTS_AF000571.1:c.1022C>A protEffect A341E
LQTS_AF000571.1:c.1022C>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1022C>T commonName 1022C>T
LQTS_AF000571.1:c.1022C>T protEffect A341V
LQTS_AF000571.1:c.1022C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1024C>T commonName 1024C>T
LQTS_AF000571.1:c.1024C>T protEffect L342F
LQTS_AF000571.1:c.1024C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1032G>A commonName 1032G>A
LQTS_AF000571.1:c.1032G>A protEffect A344A
LQTS_AF000571.1:c.1032G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1032G>T commonName 1032G>T
LQTS_AF000571.1:c.1032G>T protEffect A344A
LQTS_AF000571.1:c.1032G>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1032G>C commonName 1032G>C
LQTS_AF000571.1:c.1032G>C protEffect A344A
LQTS_AF000571.1:c.1032G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1033G>C commonName 1033G>C
LQTS_AF000571.1:c.1033G>C protEffect G345R
LQTS_AF000571.1:c.1033G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1033G>A commonName 1033G>A
LQTS_AF000571.1:c.1033G>A protEffect G345E
LQTS_AF000571.1:c.1033G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1046C>G commonName 1046G>C
LQTS_AF000571.1:c.1046C>G protEffect S349W
LQTS_AF000571.1:c.1046C>G phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1058T>C commonName 1058T>C
LQTS_AF000571.1:c.1058T>C protEffect L353P
LQTS_AF000571.1:c.1058T>C phenoCommon
LQTS_AF000571.1:c.1066C>T commonName 1066C>T
LQTS_AF000571.1:c.1066C>T protEffect Q356X
LQTS_AF000571.1:c.1070A>G commonName 1070A>G
LQTS_AF000571.1:c.1070A>G protEffect Q357R
LQTS_AF000571.1:c.1096C>T commonName 1096C>T
LQTS_AF000571.1:c.1096C>T protEffect R366W
LQTS_AF000571.1:c.1096C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1097G>A commonName 1097G>A
LQTS_AF000571.1:c.1097G>A protEffect R366Q
LQTS_AF000571.1:c.1097G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1097G>C commonName 1097G>C
LQTS_AF000571.1:c.1097G>C protEffect R366P
LQTS_AF000571.1:c.1097G>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1111G>A commonName 1111G>A
LQTS_AF000571.1:c.1111G>A protEffect A371T
LQTS_AF000571.1:c.1111G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1117T>C commonName 1117T>C
LQTS_AF000571.1:c.1117T>C protEffect S373P
LQTS_AF000571.1:c.1117T>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1172C>T commonName 1172C>T
LQTS_AF000571.1:c.1172C>T protEffect T391I
LQTS_AF000571.1:c.1172C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1174T>C commonName 1174C>T
LQTS_AF000571.1:c.1174T>C protEffect W392R
LQTS_AF000571.1:c.1174T>C phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1188delC commonName 1188delC
LQTS_AF000571.1:c.1188delC phenoCommon Jervell and Lange-Nielsen syndrome
LQTS_AF000571.1:c.760G>A;1249G>A commonName 760G>A, 1249G>A 5
LQTS_AF000571.1:c.760G>A;1249G>A protEffect V417M, V254M
LQTS_AF000571.1:c.1343delC commonName 1343delC
LQTS_AF000571.1:c.1343delC phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1552C>T commonName 1552C>T
LQTS_AF000571.1:c.1552C>T protEffect R518X
LQTS_AF000571.1:c.1552C>T phenoCommon RWS(r); / ; JLNS
LQTS_AF000571.1:c.1573G>A commonName 1573G>A
LQTS_AF000571.1:c.1573G>A protEffect A525T
LQTS_AF000571.1:c.1573G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans
LQTS_AF000571.1:c.1588C>T commonName 1588C>T
LQTS_AF000571.1:c.1588C>T protEffect Q530X
LQTS_AF000571.1:c.1588C>T phenoCommon RWS/JLNS
LQTS_AF000571.1:c.1597C>T commonName 1597C>T
LQTS_AF000571.1:c.1597C>T protEffect R533W
LQTS_AF000571.1:c.1597C>T phenoCommon Romano-Ward syndrome, recessive/with variable penetrans
LQTS_AF000571.1:c.1615C>T commonName 1615C>T
LQTS_AF000571.1:c.1615C>T protEffect R539W
LQTS_AF000571.1:c.1615C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1663C>T commonName 1663C>T
LQTS_AF000571.1:c.1663C>T protEffect R555C
LQTS_AF000571.1:c.1663C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1697C>T commonName 1697C>T
LQTS_AF000571.1:c.1697C>T protEffect S566F
LQTS_AF000571.1:c.1697C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1703G>C commonName 1703G>C
LQTS_AF000571.1:c.1703G>C protEffect G568A
LQTS_AF000571.1:c.1747C>T commonName 1747C>T
LQTS_AF000571.1:c.1747C>T protEffect R583C
LQTS_AF000571.1:c.1747C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1760C>T commonName 1760C>T
LQTS_AF000571.1:c.1760C>T protEffect T587M
LQTS_AF000571.1:c.1760C>T phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1766G>A commonName 1766G>A
LQTS_AF000571.1:c.1766G>A protEffect G589D
LQTS_AF000571.1:c.1766G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1772G>A commonName 1772G>A
LQTS_AF000571.1:c.1772G>A protEffect R591H
LQTS_AF000571.1:c.1772G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1781G>A commonName 1781G>A
LQTS_AF000571.1:c.1781G>A protEffect R594Q
LQTS_AF000571.1:c.1781G>A phenoCommon Romano-Ward syndrome
LQTS_AF000571.1:c.1927G>A commonName 1927G>A
LQTS_AF000571.1:c.1927G>A protEffect G643S
LQTS_AF000571.1:c.1927G>A phenoCommon
LQTS_AF000571.1:c.435C>T commonName 435C>T
LQTS_AF000571.1:c.435C>T protEffect I145I
LQTS_AF000571.1:c.1110G>A commonName 1110G>A
LQTS_AF000571.1:c.1110G>A protEffect A370A
LQTS_AF000571.1:c.1394-12C>T commonName 1394 -12 C>T
LQTS_AF000571.1:c.1638G>A commonName 1638G>A
LQTS_AF000571.1:c.1638G>A protEffect S546S
LQTS_AF000571.1:c.1685+23G>A commonName 1685 +23 G>A
LQTS_AF000571.1:c.1732+43T>C commonName 1732 +43 T>C
LQTS_AF000571.1:c.1986C>T commonName 1986C>T
LQTS_AF000571.1:c.1986C>T protEffect Y642Y
X-ALD_c.1755delG commonName c.1755delG
X-ALD_c.1759_1770del commonName c.1759_70del12
X-ALD_c.1765delC commonName c.1765delC
X-ALD_c.1768C>T commonName 20, 88
X-ALD_c.1768C>T alias c.1768C>T
X-ALD_c.1771delC commonName c.1771delC
X-ALD_c.1771C>T commonName 24, 33, 53, 72
X-ALD_c.1771C>T alias c.1771C>T
X-ALD_c.1771C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.1772G>C commonName 49, 44
X-ALD_c.1772G>C alias c.1772G>C
X-ALD_c.1772G>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1772G>A commonName 13, 33, 78
X-ALD_c.1772G>A alias c.1772G>A
X-ALD_c.1772G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.1780G>C commonName c.1780G>C
X-ALD_c.1780+1G>A commonName 7, 53
X-ALD_c.1780+1G>A alias c.1780+1G>A
X-ALD_c.1780+2T>G commonName 38, 58
X-ALD_c.1780+2T>G alias c.1780+2T>G
X-ALD_c.1781-2A>G commonName 32, 33
X-ALD_c.1781-2A>G alias c.1781-2A>G
X-ALD_c.1781-1G>A commonName c.1781-1G>A
X-ALD_c.1781-1G>T commonName c.1781-1G>T
X-ALD_c.1784G>A commonName c.1784G>A
X-ALD_c.1785G>A commonName 24, 59
X-ALD_c.1785G>A alias c.1785G>A
X-ALD_c.1790C>G commonName c.1790C>G
X-ALD_c.1790C>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1791_1792delTA commonName c.1791_92delTA
X-ALD_c.1791_1792delTA phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1802G>A commonName 27, 33, 53, 79
X-ALD_c.1802G>A alias c.1802G>A
X-ALD_c.1802G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1803G>A commonName c.1803G>A
X-ALD_c.1804A>T commonName c.1804A>T
X-ALD_c.1814T>A commonName c.1814T>A
X-ALD_c.1814T>C commonName c.1814T>C
X-ALD_c.1816T>C commonName 7, 72, 96
X-ALD_c.1816T>C alias c.1816T>C
X-ALD_c.1816T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1817C>T commonName 6, 13, 24, 33, 49, 52, 57, 59, 60, 97
X-ALD_c.1817C>T alias c.1817C>T
X-ALD_c.1817C>T phenoCommon ALDP in fibroblasts is 25 ± 1.5%
X-ALD_c.1820delG commonName c.1820delG
X-ALD_c.1820delG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1820G>A commonName 52, 58
X-ALD_c.1820G>A alias c.1820G>A
X-ALD_c.1820G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.1822G>A commonName c.1822G>A
X-ALD_c.1823G>A commonName c.1823G>A
X-ALD_c.1825G>A commonName 15, 16, 33, 49, 60, 62, 72, 88, 97
X-ALD_c.1825G>A alias c.1825G>A
X-ALD_c.1825G>A phenoCommon ALDP in fibroblasts is 2.1 ± 1.3%
X-ALD_c.1826A>G commonName 16, 97
X-ALD_c.1826A>G alias c.1826A>G
X-ALD_c.1826A>G phenoCommon ALDP in fibroblasts is 1.8 ± 0.9%
X-ALD_c.1833G>C commonName c.1833G>C
X-ALD_c.1838T>A commonName c.1838T>A
X-ALD_c.1846G>A commonName 32, 97
X-ALD_c.1846G>A alias c.1846G>A
X-ALD_c.1846G>A phenoCommon ALDP in fibroblasts is 4.3 ± 1.7%
X-ALD_c.1847C>A commonName c.1847C>A
X-ALD_c.1847C>T commonName c.1847C>T
X-ALD_c.1849delC commonName c.1849delC
X-ALD_c.1849delC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1849C>T commonName 6, 15, 16, 33, 49, 59, 60, 86, 88
X-ALD_c.1849C>T alias c.1849C>T
X-ALD_c.1849C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1849C>G commonName 15, 33, 64, 86
X-ALD_c.1849C>G alias c.1849C>G
X-ALD_c.1849C>A commonName c.1849C>A
X-ALD_c.1850G>A commonName 6, 13, 17, 33, 49, 57, 62, 88, 96
X-ALD_c.1850G>A alias c.1850G>A
X-ALD_c.1850G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1850G>T commonName c.1850G>T
X-ALD_c.1850G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1859delA commonName c.1859delA
X-ALD_c.1859A>G commonName c.1859A>G
X-ALD_c.1859A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1865+1G>A commonName c.1865+1G>A
X-ALD_c.1865+1G>T commonName c.1865+1G>T
X-ALD_c.1866-15g>a commonName c.1866-15g>a
X-ALD_c.1866-10G>A commonName 11, 29, 30, 32, 33, 58, 72
X-ALD_c.1866-10G>A alias c.1866-10G>A
X-ALD_c.1866-10G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1866-2A>T commonName c.1866-2A>T
X-ALD_c.1866-2A>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1876G>A commonName 22, 33, 49, 96
X-ALD_c.1876G>A alias c.1876G>A
X-ALD_c.1876G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1877C>A commonName c.1877C>A
X-ALD_c.1883T>C commonName 33, 60
X-ALD_c.1883T>C alias c.1883T>C
X-ALD_c.1883T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1885G>C commonName c.1885G>C
X-ALD_c.1885G>C phenoCommon ALDP in fibroblasts is present
X-ALD_c.1888G>A commonName c.1888G>A
X-ALD_c.1889A>G commonName c.1889A>G
X-ALD_c.1891T>C commonName 32, 33, 60
X-ALD_c.1891T>C alias c.1891T>C
X-ALD_c.1891T>C phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1892G>A commonName 33, 49, 76, 93
X-ALD_c.1892G>A alias c.1892G>A
X-ALD_c.1893C>G commonName c.1893C>G
X-ALD_c.1894A>C commonName 33, 96
X-ALD_c.1894A>C alias c.1894A>C
X-ALD_c.1895C>T commonName 33, 49, 58
X-ALD_c.1895C>T alias c.1895C>T
X-ALD_c.1895C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.1899delC commonName c.1899delC
X-ALD_c.1898G>T commonName c.1898G>T
X-ALD_c.1898G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1899C>A commonName 29, , 96
X-ALD_c.1899C>A alias c.1899C>A
X-ALD_c.1899C>T commonName c.1899C>T
X-ALD_c.1903G>A commonName 49, 58
X-ALD_c.1903G>A alias c.1903G>A
X-ALD_c.1903G>A phenoCommon ALDP in fibroblasts is present
X-ALD_c.1903_04insCCA commonName c.1903_04insCCA
X-ALD_c.1903_04insCCA phenoCommon ALDP in fibroblasts is present
X-ALD_c.1907_1925del commonName c.1907_25del19
X-ALD_c.1907G>T commonName 27, 42
X-ALD_c.1907G>T alias c.1907G>T
X-ALD_c.1907G>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1912G>T commonName c.1912G>T
X-ALD_c.1918G>A commonName c.1918G>A
X-ALD_c.1933C>T commonName 22, 33
X-ALD_c.1933C>T alias c.1933C>T
X-ALD_c.1933C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1936G>C commonName 29, 33
X-ALD_c.1936G>C alias c.1936G>C
X-ALD_c.1939_40insGG commonName 71, 72
X-ALD_c.1939_40insGG alias c.1939_40insGG
X-ALD_c.1939_40insGG phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1942A>T commonName c.1942A>T
X-ALD_c.1948_1949delGC commonName c.1948_49delGC
X-ALD_c.1948_1949delGC phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1961T>G commonName c.1961T>G
X-ALD_c.1961T>C commonName 49, 62, 97
X-ALD_c.1961T>C alias c.1961T>C
X-ALD_c.1961T>C phenoCommon ALDP in fibroblasts is 1.5 ± 1.3%
X-ALD_c.1964T>C commonName c.1964T>C
X-ALD_c.1964T>C phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1967C>T commonName c.1967C>T
X-ALD_c.1967C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1969_1971delATC commonName c.1969_71delATC
X-ALD_c.1970_1972delTCA commonName c.1970_72delTCA
X-ALD_c.1973C>T commonName c.1973C>T
X-ALD_c.1973C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1978C>T commonName 7, 13, 16, 23, 24, 32, 33, 49, 53, 57, 60, 88, 97
X-ALD_c.1978C>T alias c.1978C>T
X-ALD_c.1978C>T phenoCommon ALDP in fibroblasts is 1.6 ± 0.8%
X-ALD_c.1979G>A commonName c.1979G>A
X-ALD_c.1979G>A phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1979G>C commonName c.1979G>C
X-ALD_c.1982_1983delCC commonName c.1982-1983delCC
X-ALD_c.1988T>A commonName c.1988T>A
X-ALD_c.1988T>A phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1988_89insT commonName c.1988_89insT
X-ALD_c.1991+1G>A commonName c.1991+1G>A
X-ALD_c.1991+2T>C commonName c.1991+2T>C
X-ALD_c.1992-1G>A commonName c.1992-1G>A
X-ALD_c.1993_1995delinsGAG commonName c.1993_95delinsGAG
X-ALD_c.1993_1995delinsGAG phenoCommon ALDP in fibroblasts is present
X-ALD_c.1997A>C commonName c.1997A>C
X-ALD_c.1998C>G commonName c.1998C>G
X-ALD_c.1999C>G commonName 49, 62, 90, 97
X-ALD_c.1999C>G alias c.1999C>G
X-ALD_c.1999C>G phenoCommon ALDP in fibroblasts is 2.9 ± 1%
X-ALD_c.2000A>G commonName c.2000A>G
X-ALD_c.2000A>T commonName c.2000A>T
X-ALD_c.2000A>T phenoCommon ALDP in fibroblasts is reduced
X-ALD_c.1999_2000delCA commonName c.1999_2000delCA
X-ALD_c.2002A>C commonName c.2002A>C
X-ALD_c.2003C>T commonName c.2003C>T
X-ALD_c.2003C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.2006_2007delAC commonName c.2006_2007delAC
X-ALD_c.2006A>G commonName 33, 58
X-ALD_c.2006A>G alias c.2006A>G
X-ALD_c.2006A>G phenoCommon ALDP in fibroblasts is absent
X-ALD_c.2007C>G commonName c.2007C>G
X-ALD_c.2010_11insT commonName c.2010_11insT
X-ALD_c.2014C>T commonName 25, 33, 88
X-ALD_c.2014C>T alias c.2014C>T
X-ALD_c.2014C>T phenoCommon ALDP in fibroblasts is absent
X-ALD_c.2019C>T commonName c.2019C>T
X-ALD_c.2026G>T commonName c.2026G>T
X-ALD_c.2030G>A commonName c.2030G>A
X-ALD_c.2035T>C commonName 14, 88
X-ALD_c.2035T>C alias c.2035T>C
X-ALD_c.2036G>A commonName c.2036G>A
X-ALD_c.2037G>A commonName 32, 33
X-ALD_c.2037G>A alias c.2037G>A
X-ALD_c.2051T>C commonName c.2051T>C
X-ALD_c.2078C>T commonName c.2078C>T
X-ALD_c.2078C>T phenoCommon ALDP in fibroblasts is present
X-ALD_c.2238+8C>G commonName c.2238+8C>G
X-ALD_c.1_1488del commonName exon1-5del
X-ALD_c.901_1081del commonName exon2del
X-ALD_c.901_1081del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.901_1780del commonName exon2-7del
X-ALD_c.901_1780del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.901_2238del commonName exon2-10del
X-ALD_c.1082_1488del commonName exon3-5del
X-ALD_c.1082_1488del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1082_1634del commonName exon3-6del
X-ALD_c.1082_1780del commonName exon3-7del
X-ALD_c.1082_2238del commonName exon3-10del
X-ALD_c.1082_2238del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1394_1488del commonName exon5del
X-ALD_c.1489_1634del commonName exon6del
X-ALD_c.1489_2238del commonName exon6-10del
X-ALD_c.1635_1991del commonName exon7-9del
X-ALD_c.1635_2238del commonName exon7-10del
X-ALD_c.1635_2238del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1781_1991del commonName exon8-9del
X-ALD_c.1781_1991del phenoCommon ALDP in fibroblasts is absent
X-ALD_c.1781_2238del commonName exon8-10del
ACTA1:c.1000C>T protEffect ACTA1:p.Pro334Ser
ACTA1:c.1001C>G protEffect ACTA1:p.Pro334Arg
ACTA1:c.1006G>A protEffect ACTA1:p.Glu336Lys
ACTA1:c.1006G>C protEffect ACTA1:p.Glu336Gln
ACTA1:c.1007A>C protEffect ACTA1:p.Glu336Ala
ACTA1:c.1012A>G protEffect ACTA1:p.Lys338Glu
ACTA1:c.1013A>T protEffect ACTA1:p.Lys338Ile
ACTA1:c.1049C>T protEffect ACTA1:p.Ser350Leu
ACTA1:c.1057A>G protEffect ACTA1:p.Thr353Ala
ACTA1:c.1061T>A protEffect ACTA1:p.Phe354Tyr
ACTA1:c.1061T>C protEffect ACTA1:p.Phe354Ser
ACTA1:c.1075A>C protEffect ACTA1:p.Ile359Leu
ACTA1:c.109G>C protEffect ACTA1:p.Val37Leu
ACTA1:c.109G>T protEffect ACTA1:p.Val37Leu
ACTA1:c.1106C>T protEffect ACTA1:p.Pro369Leu
ACTA1:c.110T>C protEffect ACTA1:p.Val37Ala
ACTA1:c.1111A>C protEffect ACTA1:p.Ile371Leu
ACTA1:c.1114G>T protEffect ACTA1:p.Val372Phe
ACTA1:c.1120C>A protEffect ACTA1:p.Arg374Ser
ACTA1:c.1120C>T protEffect ACTA1:p.Arg374Cys
ACTA1:c.1123A>C protEffect ACTA1:p.Lys375Gln
ACTA1:c.1123A>G protEffect ACTA1:p.Lys375Glu
ACTA1:c.1125A>C protEffect ACTA1:p.Lys375Asn
ACTA1:c.1127G>C protEffect ACTA1:p.Cys376Ser
ACTA1:c.1130T>A protEffect ACTA1:p.Phe377Tyr
ACTA1:c.1130T>G protEffect ACTA1:p.Phe377Cys
ACTA1:c.1132T>C protEffect ACTA1:p.Stop378Gln
ACTA1:c.1133A>G protEffect ACTA1:p.Stop378Trp
ACTA1:c.1134G>T protEffect ACTA1:p.Stop378Tyr
ACTA1:c.113G>C protEffect ACTA1:p.Gly38Ala
ACTA1:c.119C>T protEffect ACTA1:p.Pro40Leu
ACTA1:c.121C>T protEffect ACTA1:p.Arg41Stop
ACTA1:c.124C>T protEffect ACTA1:p.His42Tyr
ACTA1:c.128A>G protEffect ACTA1:p.Gln43Arg
ACTA1:c.131G>T protEffect ACTA1:p.Gly44Val
ACTA1:c.133G>T protEffect ACTA1:p.Val45Phe
ACTA1:c.137T>C protEffect ACTA1:p.Met46Thr
ACTA1:c.142G>A protEffect ACTA1:p.Gly48Ser
ACTA1:c.142G>T protEffect ACTA1:p.Gly48Cys
ACTA1:c.143G>A protEffect ACTA1:p.Gly48Asp
ACTA1:c.145A>G protEffect ACTA1:p.Met49Val
ACTA1:c.169G>C protEffect ACTA1:p.Gly57Arg
ACTA1:c.16G>A protEffect ACTA1:p.Glu6Lys
ACTA1:c.172G>A protEffect ACTA1:p.Asp58Asn
ACTA1:c.197T>A protEffect ACTA1:p.Ile66Asn
ACTA1:c.197T>G protEffect ACTA1:p.Ile66Ser
ACTA1:c.203C>A protEffect ACTA1:p.Thr68Asn
ACTA1:c.203C>T protEffect ACTA1:p.Thr68Ile
ACTA1:c.209A>G protEffect ACTA1:p.Lys70Arg
ACTA1:c.210G>A protEffect ACTA1:p.Lys70Lys
ACTA1:c.215C>G protEffect ACTA1:p.Pro72Arg
ACTA1:c.217A>G protEffect ACTA1:p.Ile73Val
ACTA1:c.217A>T protEffect ACTA1:p.Ile73Phe
ACTA1:c.220G>A protEffect ACTA1:p.Glu74Lys
ACTA1:c.223C>A protEffect ACTA1:p.His75Asn
ACTA1:c.224A>G protEffect ACTA1:p.His75Arg
ACTA1:c.224A>T protEffect ACTA1:p.His75Leu
ACTA1:c.227G>A protEffect ACTA1:p.Gly76Asp
ACTA1:c.229A>C protEffect ACTA1:p.Ile77Leu
ACTA1:c.230T>G protEffect ACTA1:p.Ile77Ser
ACTA1:c.235A>G protEffect ACTA1:p.Thr79Ala
ACTA1:c.253G>A protEffect ACTA1:p.Glu85Lys
ACTA1:c.282C>G protEffect ACTA1:p.Asn94Lys
ACTA1:c.287T>C protEffect ACTA1:p.Leu96Pro
ACTA1:c.324C>A protEffect ACTA1:p.Thr108Thr
ACTA1:c.327G>C protEffect ACTA1:p.Glu109Asp
ACTA1:c.338A>G protEffect ACTA1:p.Asn113Ser
ACTA1:c.343A>G protEffect ACTA1:p.Lys115Glu
ACTA1:c.346G>A protEffect ACTA1:p.Ala116Thr
ACTA1:c.346G>T protEffect ACTA1:p.Ala116Ser
ACTA1:c.350A>C protEffect ACTA1:p.Asn117Thr
ACTA1:c.350A>G protEffect ACTA1:p.Asn117Ser
ACTA1:c.353G>A protEffect ACTA1:p.Arg118His
ACTA1:c.360G>T protEffect ACTA1:p.Lys120Asn
ACTA1:c.365C>G protEffect ACTA1:p.Thr122Ser
ACTA1:c.37G>A protEffect ACTA1:p.Asp13Asn
ACTA1:c.400A>G protEffect ACTA1:p.Met134Val
ACTA1:c.402G>A protEffect ACTA1:p.Met134Ile
ACTA1:c.407T>C protEffect ACTA1:p.Val136Ala
ACTA1:c.413T>C protEffect ACTA1:p.Ile138Thr
ACTA1:c.414C>G protEffect ACTA1:p.Ile138Met
ACTA1:c.417G>C protEffect ACTA1:p.Gln139His
ACTA1:c.418G>C protEffect ACTA1:p.Ala140Pro
ACTA1:c.419C>A protEffect ACTA1:p.Ala140Asp
ACTA1:c.422T>C protEffect ACTA1:p.Val141Ala
ACTA1:c.425T>C protEffect ACTA1:p.Leu142Pro
ACTA1:c.430C>T protEffect ACTA1:p.Leu144Phe
ACTA1:c.435C>G protEffect ACTA1:p.Tyr145Stop
ACTA1:c.442G>A protEffect ACTA1:p.Gly148Ser
ACTA1:c.443G>A protEffect ACTA1:p.Gly148Asp
ACTA1:c.446G>A protEffect ACTA1:p.Arg149Lys
ACTA1:c.449C>A protEffect ACTA1:p.Thr150Asn
ACTA1:c.449C>G protEffect ACTA1:p.Thr150Ser
ACTA1:c.44G>A protEffect ACTA1:p.Gly15Asp
ACTA1:c.453C>A protEffect ACTA1:p.Thr151Thr
ACTA1:c.455G>C protEffect ACTA1:p.Gly152Ala
ACTA1:c.466G>A protEffect ACTA1:p.Asp156Asn
ACTA1:c.478G>T protEffect ACTA1:p.Gly160Cys
ACTA1:c.487C>G protEffect ACTA1:p.His163Asp
ACTA1:c.487C>T protEffect ACTA1:p.His163Tyr
ACTA1:c.493G>A protEffect ACTA1:p.Val165Met
ACTA1:c.493G>C protEffect ACTA1:p.Val165Leu
ACTA1:c.493G>T protEffect ACTA1:p.Val165Leu
ACTA1:c.49G>C protEffect ACTA1:p.Gly17Arg
ACTA1:c.515C>A protEffect ACTA1:p.Ala172Glu
ACTA1:c.515C>G protEffect ACTA1:p.Ala172Gly
ACTA1:c.539T>C protEffect ACTA1:p.Leu180Pro
ACTA1:c.541G>A protEffect ACTA1:p.Asp181Asn
ACTA1:c.541G>C protEffect ACTA1:p.Asp181His
ACTA1:c.542A>G protEffect ACTA1:p.Asp181Gly
ACTA1:c.547G>A protEffect ACTA1:p.Ala183Thr
ACTA1:c.549G>A protEffect ACTA1:p.Ala183Ala
ACTA1:c.551G>A protEffect ACTA1:p.Gly184Asp
ACTA1:c.553C>A protEffect ACTA1:p.Arg185Ser
ACTA1:c.553C>G protEffect ACTA1:p.Arg185Gly
ACTA1:c.553C>T protEffect ACTA1:p.Arg185Cys
ACTA1:c.554G>T protEffect ACTA1:p.Arg185Leu
ACTA1:c.556G>C protEffect ACTA1:p.Asp186His
ACTA1:c.557A>G protEffect ACTA1:p.Asp186Gly
ACTA1:c.570C>A protEffect ACTA1:p.Tyr190Stop
ACTA1:c.579G>T protEffect ACTA1:p.Lys193Asn
ACTA1:c.586A>C protEffect ACTA1:p.Thr196Pro
ACTA1:c.592C>A protEffect ACTA1:p.Arg198Ser
ACTA1:c.592C>T protEffect ACTA1:p.Arg198Cys
ACTA1:c.593G>A protEffect ACTA1:p.Arg198His
ACTA1:c.593G>T protEffect ACTA1:p.Arg198Leu
ACTA1:c.595G>A protEffect ACTA1:p.Gly199Ser
ACTA1:c.599A>G protEffect ACTA1:p.Tyr200Cys
ACTA1:c.616G>A protEffect ACTA1:p.Ala206Thr
ACTA1:c.620A>G protEffect ACTA1:p.Glu207Gly
ACTA1:c.621G>C protEffect ACTA1:p.Glu207Asp
ACTA1:c.627G>C protEffect ACTA1:p.Glu209Asp
ACTA1:c.649A>T protEffect ACTA1:p.Lys217Stop
ACTA1:c.668T>C protEffect ACTA1:p.Leu223Pro
ACTA1:c.676G>C protEffect ACTA1:p.Glu226Gln
ACTA1:c.677A>G protEffect ACTA1:p.Glu226Gly
ACTA1:c.682G>C protEffect ACTA1:p.Glu228Gln
ACTA1:c.685A>G protEffect ACTA1:p.Met229Val
ACTA1:c.686T>C protEffect ACTA1:p.Met229Thr
ACTA1:c.687G>A protEffect ACTA1:p.Met229Ile
ACTA1:c.687G>C protEffect ACTA1:p.Met229Ile
ACTA1:c.687G>T protEffect ACTA1:p.Met229Ile
ACTA1:c.695C>T protEffect ACTA1:p.Ala232Val
ACTA1:c.715G>A protEffect ACTA1:p.Glu239Lys
ACTA1:c.715G>T protEffect ACTA1:p.Glu239Stop
ACTA1:c.727G>A protEffect ACTA1:p.Glu243Lys
ACTA1:c.738C>A protEffect ACTA1:p.Asp246Glu
ACTA1:c.739G>C protEffect ACTA1:p.Gly247Arg
ACTA1:c.742C>A protEffect ACTA1:p.Gln248Lys
ACTA1:c.743A>G protEffect ACTA1:p.Gln248Arg
ACTA1:c.758G>A protEffect ACTA1:p.Gly253Asp
ACTA1:c.760A>T protEffect ACTA1:p.Asn254Tyr
ACTA1:c.764A>G protEffect ACTA1:p.Glu255Gly
ACTA1:c.770T>G protEffect ACTA1:p.Phe257Cys
ACTA1:c.773G>A protEffect ACTA1:p.Arg258His
ACTA1:c.773G>T protEffect ACTA1:p.Arg258Leu
ACTA1:c.782A>T protEffect ACTA1:p.Glu261Val
ACTA1:c.794A>T protEffect ACTA1:p.Gln265Leu
ACTA1:c.796C>A protEffect ACTA1:p.Pro266Thr
ACTA1:c.79G>A protEffect ACTA1:p.Asp27Asn
ACTA1:c.7G>T protEffect ACTA1:p.Asp3Tyr
ACTA1:c.800C>G protEffect ACTA1:p.Ser267Cys
ACTA1:c.802T>C protEffect ACTA1:p.Phe268Leu
ACTA1:c.808G>A protEffect ACTA1:p.Gly270Ser
ACTA1:c.808G>C protEffect ACTA1:p.Gly270Arg
ACTA1:c.808G>T protEffect ACTA1:p.Gly270Cys
ACTA1:c.809G>A protEffect ACTA1:p.Gly270Asp
ACTA1:c.812T>G protEffect ACTA1:p.Met271Arg
ACTA1:c.814G>C protEffect ACTA1:p.Glu272Gln
ACTA1:c.821C>A protEffect ACTA1:p.Ala274Glu
ACTA1:c.841T>C protEffect ACTA1:p.Tyr281His
ACTA1:c.846C>G protEffect ACTA1:p.Asn282Lys
ACTA1:c.854T>A protEffect ACTA1:p.Met285Lys
ACTA1:c.854T>G protEffect ACTA1:p.Met285Arg
ACTA1:c.863A>G protEffect ACTA1:p.Asp288Gly
ACTA1:c.868G>A protEffect ACTA1:p.Asp290Asn
ACTA1:c.871A>T protEffect ACTA1:p.Ile291Phe
ACTA1:c.880G>T protEffect ACTA1:p.Asp294Tyr
ACTA1:c.881A>T protEffect ACTA1:p.Asp294Val
ACTA1:c.89G>A protEffect ACTA1:p.Arg30Lys
ACTA1:c.902T>A protEffect ACTA1:p.Met301Lys
ACTA1:c.984G>C protEffect ACTA1:p.Lys328Asn
ACTA1:c.996C>A protEffect ACTA1:p.Ile332Ile
CAPN3:c.1000C>T protEffect CAPN3:p.His334Tyr
CAPN3:c.1001A>T protEffect CAPN3:p.His334Leu
CAPN3:c.1002C>G protEffect CAPN3:p.His334Gln
CAPN3:c.1006T>A protEffect CAPN3:p.Tyr336Asn
CAPN3:c.1034C>T protEffect CAPN3:p.Pro345Leu
CAPN3:c.1058T>C protEffect CAPN3:p.Leu353Pro
CAPN3:c.1061T>C protEffect CAPN3:p.Val354Ala
CAPN3:c.1061T>G protEffect CAPN3:p.Val354Gly
CAPN3:c.1063C>G protEffect CAPN3:p.Arg355Gly
CAPN3:c.1063C>T protEffect CAPN3:p.Arg355Trp
CAPN3:c.1069C>T protEffect CAPN3:p.Arg357Trp
CAPN3:c.1070G>A protEffect CAPN3:p.Arg357Gln
CAPN3:c.1076C>T protEffect CAPN3:p.Pro359Leu
CAPN3:c.1079G>A protEffect CAPN3:p.Trp360Stop
CAPN3:c.1080G>C protEffect CAPN3:p.Trp360Cys
CAPN3:c.1099G>A protEffect CAPN3:p.Gly367Ser
CAPN3:c.10G>A protEffect CAPN3:p.Val4Ile
CAPN3:c.1106G>A protEffect CAPN3:p.Trp369Stop
CAPN3:c.1156C>T protEffect CAPN3:p.Arg386Cys
CAPN3:c.1191C>G protEffect CAPN3:p.Phe397Leu
CAPN3:c.1192T>C protEffect CAPN3:p.Trp398Arg
CAPN3:c.1193G>C protEffect CAPN3:p.Trp398Ser
CAPN3:c.1202A>G protEffect CAPN3:p.Tyr401Cys
CAPN3:c.1250C>T protEffect CAPN3:p.Thr417Met
CAPN3:c.1256A>G protEffect CAPN3:p.Asp419Gly
CAPN3:c.1257T>G protEffect CAPN3:p.Asp419Glu
CAPN3:c.1259C>A protEffect CAPN3:p.Ala420Asp
CAPN3:c.1263G>A protEffect CAPN3:p.Leu421Leu
CAPN3:c.1286G>A protEffect CAPN3:p.Trp429Stop
CAPN3:c.1290A>G protEffect CAPN3:p.Thr430Thr
CAPN3:c.1291G>A protEffect CAPN3:p.Val431Met
CAPN3:c.1301A>T protEffect CAPN3:p.Asn434Ile
CAPN3:c.1302C>T protEffect CAPN3:p.Asn434Asn
CAPN3:c.1303G>A protEffect CAPN3:p.Glu435Lys
CAPN3:c.1309C>G protEffect CAPN3:p.Arg437Gly
CAPN3:c.1309C>T protEffect CAPN3:p.Arg437Cys
CAPN3:c.1312T>C protEffect CAPN3:p.Trp438Arg
CAPN3:c.1318C>T protEffect CAPN3:p.Arg440Trp
CAPN3:c.1319G>A protEffect CAPN3:p.Arg440Gln
CAPN3:c.1322G>A protEffect CAPN3:p.Gly441Asp
CAPN3:c.1328C>T protEffect CAPN3:p.Ser443Phe
CAPN3:c.1333G>A protEffect CAPN3:p.Gly445Arg
CAPN3:c.1336G>A protEffect CAPN3:p.Gly446Ser
CAPN3:c.1339T>C protEffect CAPN3:p.Cys447Arg
CAPN3:c.133G>A protEffect CAPN3:p.Ala45Thr
CAPN3:c.1342C>G protEffect CAPN3:p.Arg448Gly
CAPN3:c.1342C>T protEffect CAPN3:p.Arg448Cys
CAPN3:c.1343G>A protEffect CAPN3:p.Arg448His
CAPN3:c.1345A>C protEffect CAPN3:p.Asn449His
CAPN3:c.1354G>C protEffect CAPN3:p.Asp452His
CAPN3:c.1361T>C protEffect CAPN3:p.Phe454Ser
CAPN3:c.1381C>T protEffect CAPN3:p.Arg461Cys
CAPN3:c.1385T>G protEffect CAPN3:p.Leu462Arg
CAPN3:c.1435A>G protEffect CAPN3:p.Ser479Gly
CAPN3:c.143G>A protEffect CAPN3:p.Ser48Asn
CAPN3:c.1448C>A protEffect CAPN3:p.Ala483Asp
CAPN3:c.1450C>A protEffect CAPN3:p.Leu484Met
CAPN3:c.1456C>G protEffect CAPN3:p.Gln486Glu
CAPN3:c.145C>T protEffect CAPN3:p.Arg49Cys
CAPN3:c.1465C>T protEffect CAPN3:p.Arg489Trp
CAPN3:c.1466G>A protEffect CAPN3:p.Arg489Gln
CAPN3:c.1468C>T protEffect CAPN3:p.Arg490Trp
CAPN3:c.1469G>A protEffect CAPN3:p.Arg490Gln
CAPN3:c.146G>A protEffect CAPN3:p.Arg49His
CAPN3:c.1477C>G protEffect CAPN3:p.Arg493Gly
CAPN3:c.1477C>T protEffect CAPN3:p.Arg493Trp
CAPN3:c.1486G>A protEffect CAPN3:p.Gly496Arg
CAPN3:c.149A>G protEffect CAPN3:p.Asn50Ser
CAPN3:c.1505T>C protEffect CAPN3:p.Ile502Thr
CAPN3:c.1524G>A protEffect CAPN3:p.Glu508Glu
CAPN3:c.1542C>T protEffect CAPN3:p.His514His
CAPN3:c.1566G>A protEffect CAPN3:p.Lys522Lys
CAPN3:c.1567G>A protEffect CAPN3:p.Asp523Asn
CAPN3:c.1574T>C protEffect CAPN3:p.Phe525Ser
CAPN3:c.1610A>G protEffect CAPN3:p.Tyr537Cys
CAPN3:c.1611C>A protEffect CAPN3:p.Tyr537Stop
CAPN3:c.1621C>T protEffect CAPN3:p.Arg541Trp
CAPN3:c.1622G>A protEffect CAPN3:p.Arg541Gln
CAPN3:c.163G>A protEffect CAPN3:p.Gly55Arg
CAPN3:c.1641C>A protEffect CAPN3:p.Phe547Leu
CAPN3:c.1657G>A protEffect CAPN3:p.Glu553Lys
CAPN3:c.1662C>G protEffect CAPN3:p.Tyr554Stop
CAPN3:c.1663G>A protEffect CAPN3:p.Val555Ile
CAPN3:c.1667T>C protEffect CAPN3:p.Ile556Thr
CAPN3:c.1668C>T protEffect CAPN3:p.Ile556Ile
CAPN3:c.1694A>C protEffect CAPN3:p.Gln565Pro
CAPN3:c.1699G>T protEffect CAPN3:p.Gly567Trp
CAPN3:c.1706T>C protEffect CAPN3:p.Phe569Ser
CAPN3:c.1714C>T protEffect CAPN3:p.Arg572Trp
CAPN3:c.1715G>A protEffect CAPN3:p.Arg572Gln
CAPN3:c.1715G>C protEffect CAPN3:p.Arg572Pro
CAPN3:c.1742C>G protEffect CAPN3:p.Ser581Cys
CAPN3:c.1817C>T protEffect CAPN3:p.Ser606Leu
CAPN3:c.1823G>A protEffect CAPN3:p.Arg608Lys
CAPN3:c.1826C>A protEffect CAPN3:p.Ala609Glu
CAPN3:c.1855C>T protEffect CAPN3:p.Gln619Stop
CAPN3:c.1865A>C protEffect CAPN3:p.Glu622Ala
CAPN3:c.1872C>T protEffect CAPN3:p.Gly624Gly
CAPN3:c.1897C>T protEffect CAPN3:p.Gln633Stop
CAPN3:c.1913A>C protEffect CAPN3:p.Gln638Pro
CAPN3:c.1939G>T protEffect CAPN3:p.Glu647Stop
CAPN3:c.193C>G protEffect CAPN3:p.His65Asp
CAPN3:c.1979A>G protEffect CAPN3:p.Gln660Arg
CAPN3:c.1984G>T protEffect CAPN3:p.Ala662Ser
CAPN3:c.2005T>A protEffect CAPN3:p.Cys669Ser
CAPN3:c.2019C>G protEffect CAPN3:p.Leu673Leu
CAPN3:c.206T>C protEffect CAPN3:p.Leu69Pro
CAPN3:c.2077A>C protEffect CAPN3:p.Thr693Pro
CAPN3:c.2092C>A protEffect CAPN3:p.Arg698Ser
CAPN3:c.2092C>T protEffect CAPN3:p.Arg698Cys
CAPN3:c.2093G>C protEffect CAPN3:p.Arg698Pro
CAPN3:c.2105C>A protEffect CAPN3:p.Ala702Glu
CAPN3:c.2105C>T protEffect CAPN3:p.Ala702Val
CAPN3:c.2113G>C protEffect CAPN3:p.Asp705His
CAPN3:c.2114A>G protEffect CAPN3:p.Asp705Gly
CAPN3:c.2117C>A protEffect CAPN3:p.Thr706Lys
CAPN3:c.2120A>G protEffect CAPN3:p.Asp707Gly
CAPN3:c.2134C>T protEffect CAPN3:p.Leu712Phe
CAPN3:c.2148G>T protEffect CAPN3:p.Glu716Asp
CAPN3:c.2182C>T protEffect CAPN3:p.Gln728Stop
CAPN3:c.2184G>A protEffect CAPN3:p.Gln728Gln
CAPN3:c.2192T>C protEffect CAPN3:p.Phe731Ser
CAPN3:c.2212C>T protEffect CAPN3:p.Gln738Stop
CAPN3:c.2230A>G protEffect CAPN3:p.Ser744Gly
CAPN3:c.2231G>C protEffect CAPN3:p.Ser744Thr
CAPN3:c.2235C>G protEffect CAPN3:p.Tyr745Stop
CAPN3:c.2235C>T protEffect CAPN3:p.Tyr745Tyr
CAPN3:c.2242C>T protEffect CAPN3:p.Arg748Stop
CAPN3:c.2243G>A protEffect CAPN3:p.Arg748Gln
CAPN3:c.2245A>C protEffect CAPN3:p.Asn749His
CAPN3:c.224A>G protEffect CAPN3:p.Tyr75Cys
CAPN3:c.2257G>A protEffect CAPN3:p.Asp753Asn
CAPN3:c.2269C>G protEffect CAPN3:p.His757Asp
CAPN3:c.2288A>G protEffect CAPN3:p.Tyr763Cys
CAPN3:c.2292C>T protEffect CAPN3:p.Asp764Asp
CAPN3:c.229G>A protEffect CAPN3:p.Asp77Asn
CAPN3:c.2306G>A protEffect CAPN3:p.Arg769Gln
CAPN3:c.2306G>C protEffect CAPN3:p.Arg769Pro
CAPN3:c.2320C>G protEffect CAPN3:p.His774Asp
CAPN3:c.232C>A protEffect CAPN3:p.Pro78Thr
CAPN3:c.2330T>C protEffect CAPN3:p.Ile777Thr
CAPN3:c.2332G>A protEffect CAPN3:p.Asp778Asn
CAPN3:c.2335T>A protEffect CAPN3:p.Phe779Ile
CAPN3:c.2338G>C protEffect CAPN3:p.Asp780His
CAPN3:c.2371G>A protEffect CAPN3:p.Gly791Ser
CAPN3:c.2371G>T protEffect CAPN3:p.Gly791Cys
CAPN3:c.2376G>A protEffect CAPN3:p.Met792Ile
CAPN3:c.2390A>C protEffect CAPN3:p.His797Pro
CAPN3:c.2393C>A protEffect CAPN3:p.Ala798Glu
CAPN3:c.240C>G protEffect CAPN3:p.Phe80Leu
CAPN3:c.2420T>C protEffect CAPN3:p.Ile807Thr
CAPN3:c.2433T>C protEffect CAPN3:p.Val811Val
CAPN3:c.2442G>A protEffect CAPN3:p.Trp814Stop
CAPN3:c.245C>T protEffect CAPN3:p.Pro82Leu
CAPN3:c.2464T>C protEffect CAPN3:p.Stop822Arg
CAPN3:c.246G>A protEffect CAPN3:p.Pro82Pro
CAPN3:c.257C>T protEffect CAPN3:p.Ser86Phe
CAPN3:c.259C>G protEffect CAPN3:p.Leu87Val
CAPN3:c.291C>A protEffect CAPN3:p.Phe97Leu
CAPN3:c.292G>A protEffect CAPN3:p.Val98Ile
CAPN3:c.302G>A protEffect CAPN3:p.Arg101Lys
CAPN3:c.304C>T protEffect CAPN3:p.Pro102Ser
CAPN3:c.308C>T protEffect CAPN3:p.Pro103Leu
CAPN3:c.309G>A protEffect CAPN3:p.Pro103Pro
CAPN3:c.318C>T protEffect CAPN3:p.Cys106Cys
CAPN3:c.319G>A protEffect CAPN3:p.Glu107Lys
CAPN3:c.328C>T protEffect CAPN3:p.Arg110Stop
CAPN3:c.332T>C protEffect CAPN3:p.Phe111Ser
CAPN3:c.352A>G protEffect CAPN3:p.Arg118Gly
CAPN3:c.358G>A protEffect CAPN3:p.Asp120Asn
CAPN3:c.363C>G protEffect CAPN3:p.Ile121Met
CAPN3:c.389G>C protEffect CAPN3:p.Trp130Ser
CAPN3:c.390G>C protEffect CAPN3:p.Trp130Cys
CAPN3:c.398C>T protEffect CAPN3:p.Ala133Val
CAPN3:c.399A>G protEffect CAPN3:p.Ala133Ala
CAPN3:c.409T>C protEffect CAPN3:p.Cys137Arg
CAPN3:c.413T>C protEffect CAPN3:p.Leu138Pro
CAPN3:c.416C>T protEffect CAPN3:p.Thr139Ile
CAPN3:c.424C>T protEffect CAPN3:p.Gln142Stop
CAPN3:c.440G>A protEffect CAPN3:p.Arg147Gln
CAPN3:c.440G>C protEffect CAPN3:p.Arg147Pro
CAPN3:c.477C>T protEffect CAPN3:p.Tyr159Tyr
CAPN3:c.478G>C protEffect CAPN3:p.Ala160Pro
CAPN3:c.479C>A protEffect CAPN3:p.Ala160Glu
CAPN3:c.479C>G protEffect CAPN3:p.Ala160Gly
CAPN3:c.484A>C protEffect CAPN3:p.Ile162Leu
CAPN3:c.495C>G protEffect CAPN3:p.Phe165Leu
CAPN3:c.495C>T protEffect CAPN3:p.Phe165Phe
CAPN3:c.498G>A protEffect CAPN3:p.Gln166Gln
CAPN3:c.502T>C protEffect CAPN3:p.Trp168Arg
CAPN3:c.505C>G protEffect CAPN3:p.Arg169Gly
CAPN3:c.505C>T protEffect CAPN3:p.Arg169Cys
CAPN3:c.506G>A protEffect CAPN3:p.Arg169His
CAPN3:c.509A>G protEffect CAPN3:p.Tyr170Cys
CAPN3:c.510T>G protEffect CAPN3:p.Tyr170Stop
CAPN3:c.527T>C protEffect CAPN3:p.Val176Ala
CAPN3:c.533T>C protEffect CAPN3:p.Ile178Thr
CAPN3:c.535G>C protEffect CAPN3:p.Asp179His
CAPN3:c.539A>C protEffect CAPN3:p.Asp180Ala
CAPN3:c.545T>A protEffect CAPN3:p.Leu182Gln
CAPN3:c.548C>G protEffect CAPN3:p.Pro183Arg
CAPN3:c.548C>T protEffect CAPN3:p.Pro183Leu
CAPN3:c.551C>T protEffect CAPN3:p.Thr184Met
CAPN3:c.565C>G protEffect CAPN3:p.Leu189Val
CAPN3:c.566T>C protEffect CAPN3:p.Leu189Pro
CAPN3:c.575C>T protEffect CAPN3:p.Thr192Ile
CAPN3:c.581C>G protEffect CAPN3:p.Ser194Cys
CAPN3:c.590G>A protEffect CAPN3:p.Arg197His
CAPN3:c.590G>T protEffect CAPN3:p.Arg197Leu
CAPN3:c.593A>G protEffect CAPN3:p.Asn198Ser
CAPN3:c.595G>C protEffect CAPN3:p.Glu199Gln
CAPN3:c.601T>A protEffect CAPN3:p.Trp201Arg
CAPN3:c.606T>C protEffect CAPN3:p.Ser202Ser
CAPN3:c.610C>G protEffect CAPN3:p.Leu204Val
CAPN3:c.616G>A protEffect CAPN3:p.Glu206Lys
CAPN3:c.620A>C protEffect CAPN3:p.Lys207Thr
CAPN3:c.62G>A protEffect CAPN3:p.Gly21Glu
CAPN3:c.631A>G protEffect CAPN3:p.Lys211Glu
CAPN3:c.633G>C protEffect CAPN3:p.Lys211Asn
CAPN3:c.633G>T protEffect CAPN3:p.Lys211Asn
CAPN3:c.637C>T protEffect CAPN3:p.His213Tyr
CAPN3:c.638A>G protEffect CAPN3:p.His213Arg
CAPN3:c.640G>A protEffect CAPN3:p.Gly214Ser
CAPN3:c.643T>C protEffect CAPN3:p.Ser215Pro
CAPN3:c.649G>A protEffect CAPN3:p.Glu217Lys
CAPN3:c.662G>T protEffect CAPN3:p.Gly221Val
CAPN3:c.664G>A protEffect CAPN3:p.Gly222Arg
CAPN3:c.674C>G protEffect CAPN3:p.Thr225Arg
CAPN3:c.676G>A protEffect CAPN3:p.Glu226Lys
CAPN3:c.689A>G protEffect CAPN3:p.Asp230Gly
CAPN3:c.695C>T protEffect CAPN3:p.Thr232Ile
CAPN3:c.697G>C protEffect CAPN3:p.Gly233Arg
CAPN3:c.698G>T protEffect CAPN3:p.Gly233Val
CAPN3:c.701G>A protEffect CAPN3:p.Gly234Glu
CAPN3:c.706G>A protEffect CAPN3:p.Ala236Thr
CAPN3:c.739G>A protEffect CAPN3:p.Asp247Asn
CAPN3:c.743T>G protEffect CAPN3:p.Met248Arg
CAPN3:c.747C>G protEffect CAPN3:p.Tyr249Stop
CAPN3:c.755T>A protEffect CAPN3:p.Met252Lys
CAPN3:c.755T>C protEffect CAPN3:p.Met252Thr
CAPN3:c.755T>G protEffect CAPN3:p.Met252Arg
CAPN3:c.760A>G protEffect CAPN3:p.Lys254Glu
CAPN3:c.763G>C protEffect CAPN3:p.Ala255Pro
CAPN3:c.769G>T protEffect CAPN3:p.Glu257Stop
CAPN3:c.779C>T protEffect CAPN3:p.Ser260Phe
CAPN3:c.77C>T protEffect CAPN3:p.Pro26Leu
CAPN3:c.788G>A protEffect CAPN3:p.Gly263Asp
CAPN3:c.791G>A protEffect CAPN3:p.Cys264Tyr
CAPN3:c.798T>C protEffect CAPN3:p.Ile266Ile
CAPN3:c.817A>G protEffect CAPN3:p.Thr273Ala
CAPN3:c.822T>G protEffect CAPN3:p.Tyr274Stop
CAPN3:c.847A>G protEffect CAPN3:p.Met283Val
CAPN3:c.848T>C protEffect CAPN3:p.Met283Thr
CAPN3:c.865C>T protEffect CAPN3:p.Arg289Trp
CAPN3:c.898C>T protEffect CAPN3:p.Gln300Stop
CAPN3:c.8C>A protEffect CAPN3:p.Thr3Asn
CAPN3:c.956C>T protEffect CAPN3:p.Pro319Leu
CAPN3:c.958G>T protEffect CAPN3:p.Val320Phe
CAPN3:c.964T>C protEffect CAPN3:p.Tyr322His
CAPN3:c.966T>A protEffect CAPN3:p.Tyr322Stop
CAPN3:c.967G>T protEffect CAPN3:p.Glu323Stop
CAPN3:c.96T>C protEffect CAPN3:p.Thr32Thr
CAPN3:c.984C>A protEffect CAPN3:p.Cys328Stop
CAPN3:c.984C>T protEffect CAPN3:p.Cys328Cys
CAPN3:c.985G>A protEffect CAPN3:p.Gly329Arg
CAPN3:c.998G>A protEffect CAPN3:p.Gly333Asp
CAPN3:c.9C>T protEffect CAPN3:p.Thr3Thr
CAV3:c.100G>A protEffect CAV3:p.Glu34Lys
CAV3:c.123T>C protEffect CAV3:p.Phe41Phe
CAV3:c.131T>A protEffect CAV3:p.Val44Glu
CAV3:c.136G>A protEffect CAV3:p.Ala46Thr
CAV3:c.136G>T protEffect CAV3:p.Ala46Ser
CAV3:c.137C>A protEffect CAV3:p.Ala46Glu
CAV3:c.137C>T protEffect CAV3:p.Ala46Val
CAV3:c.139G>A protEffect CAV3:p.Glu47Lys
CAV3:c.140A>C protEffect CAV3:p.Glu47Ala
CAV3:c.141G>T protEffect CAV3:p.Glu47Asp
CAV3:c.157A>G protEffect CAV3:p.Ser53Gly
CAV3:c.158G>A protEffect CAV3:p.Ser53Asn
CAV3:c.166G>A protEffect CAV3:p.Gly56Ser
CAV3:c.168C>A protEffect CAV3:p.Gly56Gly
CAV3:c.169G>A protEffect CAV3:p.Val57Met
CAV3:c.170T>G protEffect CAV3:p.Val57Gly
CAV3:c.171G>A protEffect CAV3:p.Val57Val
CAV3:c.172T>C protEffect CAV3:p.Trp58Arg
CAV3:c.183C>A protEffect CAV3:p.Ser61Arg
CAV3:c.190A>C protEffect CAV3:p.Thr64Pro
CAV3:c.191C>G protEffect CAV3:p.Thr64Ser
CAV3:c.204C>A protEffect CAV3:p.Ser68Ser
CAV3:c.212G>A protEffect CAV3:p.Trp71Stop
CAV3:c.216C>G protEffect CAV3:p.Cys72Trp
CAV3:c.218A>G protEffect CAV3:p.Tyr73Cys
CAV3:c.233C>T protEffect CAV3:p.Thr78Met
CAV3:c.236T>G protEffect CAV3:p.Leu79Arg
CAV3:c.253G>A protEffect CAV3:p.Ala85Thr
CAV3:c.260T>C protEffect CAV3:p.Leu87Pro
CAV3:c.277G>A protEffect CAV3:p.Ala93Thr
CAV3:c.27C>T protEffect CAV3:p.Leu9Leu
CAV3:c.290T>G protEffect CAV3:p.Phe97Cys
CAV3:c.298A>T protEffect CAV3:p.Ile100Phe
CAV3:c.301T>C protEffect CAV3:p.Trp101Arg
CAV3:c.314C>T protEffect CAV3:p.Pro105Leu
CAV3:c.377G>A protEffect CAV3:p.Arg126His
CAV3:c.40G>C protEffect CAV3:p.Val14Leu
CAV3:c.423C>G protEffect CAV3:p.Ser141Arg
CAV3:c.79C>G protEffect CAV3:p.Arg27Gly
CAV3:c.80G>A protEffect CAV3:p.Arg27Gln
CAV3:c.80G>C protEffect CAV3:p.Arg27Pro
CAV3:c.84C>A protEffect CAV3:p.Asp28Glu
CAV3:c.85C>A protEffect CAV3:p.Pro29Thr
CAV3:c.86C>T protEffect CAV3:p.Pro29Leu
CAV3:c.99C>G protEffect CAV3:p.Asn33Lys
CAV3:c.99C>T protEffect CAV3:p.Asn33Asn
CFL2:c.103G>A protEffect CFL2:p.Ala35Thr
COL6A1:c.1022G>A protEffect COL6A1:p.Gly341Asp
COL6A1:c.1022G>T protEffect COL6A1:p.Gly341Val
COL6A1:c.1095T>C protEffect COL6A1:p.Gly365Gly
COL6A1:c.1184G>T protEffect COL6A1:p.Gly395Val
COL6A1:c.1712A>C protEffect COL6A1:p.Lys571Thr
COL6A1:c.1977C>G protEffect COL6A1:p.Tyr659Stop
COL6A1:c.2045G>A protEffect COL6A1:p.Arg682Gln
COL6A1:c.235C>T protEffect COL6A1:p.Arg79Cys
COL6A1:c.2424G>T protEffect COL6A1:p.Gln808His
COL6A1:c.2512G>A protEffect COL6A1:p.Ala838Thr
COL6A1:c.2549G>A protEffect COL6A1:p.Arg850His
COL6A1:c.2667G>A protEffect COL6A1:p.Ala889Ala
COL6A1:c.2669C>T protEffect COL6A1:p.Ser890Leu
COL6A1:c.2670G>A protEffect COL6A1:p.Ser890Ser
COL6A1:c.2796C>T protEffect COL6A1:p.Ser932Ser
COL6A1:c.347G>A protEffect COL6A1:p.Ser116Asn
COL6A1:c.362A>G protEffect COL6A1:p.Lys121Arg
COL6A1:c.805G>A protEffect COL6A1:p.Gly269Arg
COL6A1:c.815G>A protEffect COL6A1:p.Gly272Asp
COL6A1:c.821C>T protEffect COL6A1:p.Pro274Leu
COL6A1:c.823G>A protEffect COL6A1:p.Gly275Arg
COL6A1:c.841G>A protEffect COL6A1:p.Gly281Arg
COL6A1:c.842G>A protEffect COL6A1:p.Gly281Glu
COL6A1:c.850G>A protEffect COL6A1:p.Gly284Arg
COL6A1:c.860G>A protEffect COL6A1:p.Gly287Glu
COL6A1:c.868G>A protEffect COL6A1:p.Gly290Arg
COL6A1:c.868G>C protEffect COL6A1:p.Gly290Arg
COL6A1:c.869G>A protEffect COL6A1:p.Gly290Glu
COL6A1:c.914G>T protEffect COL6A1:p.Gly305Val
COL6A2:c.1353G>C protEffect COL6A2:p.Gly451Gly
COL6A2:c.1493G>A protEffect COL6A2:p.Arg498His
COL6A2:c.1552C>T protEffect COL6A2:p.Pro518Ser
COL6A2:c.1591G>C protEffect COL6A2:p.Gly531Arg
COL6A2:c.1861G>A protEffect COL6A2:p.Asp621Asn
COL6A2:c.2039G>A protEffect COL6A2:p.Arg680His
COL6A2:c.2094G>A protEffect COL6A2:p.Ala698Ala
COL6A2:c.2097C>T protEffect COL6A2:p.Gly699Gly
COL6A2:c.2098G>A protEffect COL6A2:p.Gly700Ser
COL6A2:c.2184G>A protEffect COL6A2:p.Val728Val
COL6A2:c.2319C>G protEffect COL6A2:p.Tyr773Stop
COL6A2:c.2329T>C protEffect COL6A2:p.Cys777Arg
COL6A2:c.2351G>A protEffect COL6A2:p.Arg784His
COL6A2:c.2386A>T protEffect COL6A2:p.Lys796Stop
COL6A2:c.2510T>C protEffect COL6A2:p.Leu837Pro
COL6A2:c.2558G>A protEffect COL6A2:p.Arg853Gln
COL6A2:c.2626C>A protEffect COL6A2:p.Arg876Ser
COL6A2:c.2683A>C protEffect COL6A2:p.Ser895Arg
COL6A2:c.2697G>T protEffect COL6A2:p.Thr899Thr
COL6A2:c.2724A>G protEffect COL6A2:p.Thr908Thr
COL6A2:c.2795C>T protEffect COL6A2:p.Pro932Leu
COL6A2:c.2979C>T protEffect COL6A2:p.Arg993Arg
COL6A2:c.679G>A protEffect COL6A2:p.Asp227Asn
COL6A2:c.777C>G protEffect COL6A2:p.Gly259Gly
COL6A2:c.802G>A protEffect COL6A2:p.Gly268Ser
COL6A2:c.802G>T protEffect COL6A2:p.Gly268Cys
COL6A2:c.811G>A protEffect COL6A2:p.Gly271Ser
COL6A2:c.847G>A protEffect COL6A2:p.Gly283Arg
COL6A2:c.901G>A protEffect COL6A2:p.Gly301Ser
COL6A3:c.1389C>T protEffect COL6A3:p.Ala463Ala
COL6A3:c.1393C>T protEffect COL6A3:p.Arg465Stop
COL6A3:c.2030G>A protEffect COL6A3:p.Arg677His
COL6A3:c.3040A>G protEffect COL6A3:p.Lys1014Glu
COL6A3:c.3129C>T protEffect COL6A3:p.Gly1043Gly
COL6A3:c.3191G>A protEffect COL6A3:p.Arg1064Gln
COL6A3:c.4156G>A protEffect COL6A3:p.Glu1386Lys
COL6A3:c.4184G>A protEffect COL6A3:p.Arg1395Gln
COL6A3:c.4217C>T protEffect COL6A3:p.Thr1406Met
COL6A3:c.4311T>C protEffect COL6A3:p.Ile1437Ile
COL6A3:c.4533G>T protEffect COL6A3:p.Gly1511Gly
COL6A3:c.4727G>A protEffect COL6A3:p.Arg1576Gln
COL6A3:c.5020G>A protEffect COL6A3:p.Asp1674Asn
COL6A3:c.5036G>A protEffect COL6A3:p.Gly1679Glu
COL6A3:c.5177T>G protEffect COL6A3:p.Leu1726Arg
COL6A3:c.5953G>A protEffect COL6A3:p.Val1985Met
COL6A3:c.6140G>A protEffect COL6A3:p.Gly2047Asp
COL6A3:c.6166G>A protEffect COL6A3:p.Gly2056Arg
COL6A3:c.6185G>A protEffect COL6A3:p.Gly2062Asp
COL6A3:c.6239G>A protEffect COL6A3:p.Gly2080Asp
COL6A3:c.6247G>T protEffect COL6A3:p.Gly2083Cys
COL6A3:c.6369G>A protEffect COL6A3:p.Leu2123Leu
COL6A3:c.6816G>A protEffect COL6A3:p.Lys2272Lys
COL6A3:c.6855G>C protEffect COL6A3:p.Gly2285Gly
COL6A3:c.6945C>T protEffect COL6A3:p.Phe2315Phe
COL6A3:c.7024C>T protEffect COL6A3:p.Arg2342Stop
COL6A3:c.7292A>T protEffect COL6A3:p.Asp2431Val
COL6A3:c.7357G>A protEffect COL6A3:p.Glu2453Lys
COL6A3:c.7509G>A protEffect COL6A3:p.Arg2503Arg
COL6A3:c.7596G>A protEffect COL6A3:p.Lys2532Lys
COL6A3:c.7842C>T protEffect COL6A3:p.Ser2614Ser
COL6A3:c.7929G>A protEffect COL6A3:p.Ala2643Ala
COL6A3:c.7980C>T protEffect COL6A3:p.His2660His
COL6A3:c.8451A>G protEffect COL6A3:p.Pro2817Pro
COL6A3:c.8491G>C protEffect COL6A3:p.Asp2831His
COL6A3:c.8780T>C protEffect COL6A3:p.Met2927Thr
COL6A3:c.8820G>A protEffect COL6A3:p.Thr2940Thr
COL6A3:c.8822C>T protEffect COL6A3:p.Ala2941Val
COL6A3:c.8962A>G protEffect COL6A3:p.Met2988Val
COL6A3:c.9034G>C protEffect COL6A3:p.Ala3012Pro
COL6A3:c.9206C>T protEffect COL6A3:p.Thr3069Ile
COL6A3:c.9213C>T protEffect COL6A3:p.His3071His
DAG1:c.1773C>T protEffect DAG1:p.Phe591Phe
DAG1:c.2256C>T protEffect DAG1:p.His752His
DAG1:c.41G>C protEffect DAG1:p.Trp14Ser
DAG1:c.575C>T protEffect DAG1:p.Thr192Met
DES:c.1009G>C protEffect DES:p.Ala337Pro
DES:c.1013T>G protEffect DES:p.Leu338Arg
DES:c.1014G>C protEffect DES:p.Leu338Leu
DES:c.1024A>G protEffect DES:p.Asn342Asp
DES:c.1034T>C protEffect DES:p.Leu345Pro
DES:c.1048C>T protEffect DES:p.Arg350Trp
DES:c.1049G>C protEffect DES:p.Arg350Pro
DES:c.1064G>C protEffect DES:p.Arg355Pro
DES:c.1069G>C protEffect DES:p.Ala357Pro
DES:c.1078G>C protEffect DES:p.Ala360Pro
DES:c.1099A>T protEffect DES:p.Ile367Phe
DES:c.1104G>A protEffect DES:p.Ala368Ala
DES:c.1109T>C protEffect DES:p.Leu370Pro
DES:c.1154T>C protEffect DES:p.Leu385Pro
DES:c.1166A>C protEffect DES:p.Gln389Pro
DES:c.1175T>C protEffect DES:p.Leu392Pro
DES:c.1178A>T protEffect DES:p.Asn393Ile
DES:c.1195G>T protEffect DES:p.Asp399Tyr
DES:c.1201G>A protEffect DES:p.Glu401Lys
DES:c.1216C>T protEffect DES:p.Arg406Trp
DES:c.1222C>T protEffect DES:p.Leu408Leu
DES:c.1237G>A protEffect DES:p.Glu413Lys
DES:c.1255C>T protEffect DES:p.Pro419Ser
DES:c.1325C>T protEffect DES:p.Thr442Ile
DES:c.1346A>C protEffect DES:p.Lys449Thr
DES:c.1346A>T protEffect DES:p.Lys449Met
DES:c.1353C>G protEffect DES:p.Ile451Met
DES:c.1358C>T protEffect DES:p.Thr453Ile
DES:c.1360C>T protEffect DES:p.Arg454Trp
DES:c.1375G>A protEffect DES:p.Val459Ile
DES:c.1379G>T protEffect DES:p.Ser460Ile
DES:c.137C>A protEffect DES:p.Ser46Tyr
DES:c.137C>T protEffect DES:p.Ser46Phe
DES:c.1405G>A protEffect DES:p.Val469Met
DES:c.322G>A protEffect DES:p.Glu108Lys
DES:c.38C>T protEffect DES:p.Ser13Phe
DES:c.408C>T protEffect DES:p.Leu136Leu
DES:c.46C>T protEffect DES:p.Arg16Cys
DES:c.5G>T protEffect DES:p.Ser2Ile
DES:c.638C>T protEffect DES:p.Ala213Val
DES:c.641A>T protEffect DES:p.Asp214Val
DES:c.735G>C protEffect DES:p.Glu245Asp
DES:c.828C>T protEffect DES:p.Asp276Asp
DES:c.893C>T protEffect DES:p.Ser298Leu
DES:c.934G>A protEffect DES:p.Asp312Asn
DMD:c.10002T>G protEffect DMD:p.Tyr3334Stop
DMD:c.10003G>A protEffect DMD:p.Asp3335Asn
DMD:c.10003G>C protEffect DMD:p.Asp3335His
DMD:c.10003G>T protEffect DMD:p.Asp3335Tyr
DMD:c.10009T>C protEffect DMD:p.Cys3337Arg
DMD:c.10012C>T protEffect DMD:p.Gln3338Stop
DMD:c.10018T>C protEffect DMD:p.Cys3340Arg
DMD:c.10019G>A protEffect DMD:p.Cys3340Tyr
DMD:c.10033C>T protEffect DMD:p.Arg3345Stop
DMD:c.1005G>A protEffect DMD:p.Met335Ile
DMD:c.1006G>T protEffect DMD:p.Glu336Stop
DMD:c.10072G>T protEffect DMD:p.Glu3358Stop
DMD:c.10077T>A protEffect DMD:p.Tyr3359Stop
DMD:c.10094C>G protEffect DMD:p.Ser3365Stop
DMD:c.10102G>C protEffect DMD:p.Asp3368His
DMD:c.10103A>G protEffect DMD:p.Asp3368Gly
DMD:c.10108C>T protEffect DMD:p.Arg3370Stop
DMD:c.1012G>T protEffect DMD:p.Glu338Stop
DMD:c.10135A>T protEffect DMD:p.Lys3379Stop
DMD:c.10141C>T protEffect DMD:p.Arg3381Stop
DMD:c.10149A>C protEffect DMD:p.Lys3383Asn
DMD:c.10171C>T protEffect DMD:p.Arg3391Stop
DMD:c.10186C>T protEffect DMD:p.Pro3396Ser
DMD:c.10202T>G protEffect DMD:p.Leu3401Stop
DMD:c.10262C>T protEffect DMD:p.Ala3421Val
DMD:c.10279C>T protEffect DMD:p.Gln3427Stop
DMD:c.10304C>A protEffect DMD:p.Ser3435Stop
DMD:c.10362T>A protEffect DMD:p.Tyr3454Stop
DMD:c.10387G>T protEffect DMD:p.Glu3463Stop
DMD:c.103C>T protEffect DMD:p.Gln35Stop
DMD:c.10412T>A protEffect DMD:p.Leu3471Stop
DMD:c.1045G>T protEffect DMD:p.Glu349Stop
DMD:c.10477C>T protEffect DMD:p.Gln3493Stop
DMD:c.10504G>T protEffect DMD:p.Glu3502Stop
DMD:c.10543G>T protEffect DMD:p.Glu3515Stop
DMD:c.1055T>G protEffect DMD:p.Leu352Stop
DMD:c.10561C>A protEffect DMD:p.Gln3521Lys
DMD:c.10572T>A protEffect DMD:p.Tyr3524Stop
DMD:c.1057T>C protEffect DMD:p.Ser353Pro
DMD:c.10588C>T protEffect DMD:p.Gln3530Stop
DMD:c.1061G>A protEffect DMD:p.Trp354Stop
DMD:c.10620G>A protEffect DMD:p.Pro3540Pro
DMD:c.1062G>A protEffect DMD:p.Trp354Stop
DMD:c.10765C>T protEffect DMD:p.Gln3589Stop
DMD:c.10769T>A protEffect DMD:p.Leu3590Stop
DMD:c.10783C>T protEffect DMD:p.Gln3595Stop
DMD:c.10789C>T protEffect DMD:p.Leu3597Leu
DMD:c.10801C>T protEffect DMD:p.Gln3601Stop
DMD:c.10873C>T protEffect DMD:p.Gln3625Stop
DMD:c.1087C>T protEffect DMD:p.Gln363Stop
DMD:c.10888C>T protEffect DMD:p.Arg3630Stop
DMD:c.10903C>T protEffect DMD:p.Gln3635Stop
DMD:c.10910C>A protEffect DMD:p.Ser3637Stop
DMD:c.1093C>T protEffect DMD:p.Gln365Stop
DMD:c.1095A>C protEffect DMD:p.Gln365His
DMD:c.10969G>T protEffect DMD:p.Glu3657Stop
DMD:c.1098A>T protEffect DMD:p.Gly366Gly
DMD:c.11018G>A protEffect DMD:p.Arg3673Lys
DMD:c.1117G>T protEffect DMD:p.Glu373Stop
DMD:c.1132C>T protEffect DMD:p.Gln378Stop
DMD:c.1177C>T protEffect DMD:p.Gln393Stop
DMD:c.11G>A protEffect DMD:p.Trp4Stop
DMD:c.1225A>T protEffect DMD:p.Thr409Ser
DMD:c.1238C>A protEffect DMD:p.Ser413Stop
DMD:c.1255G>T protEffect DMD:p.Glu419Stop
DMD:c.1261C>T protEffect DMD:p.Gln421Stop
DMD:c.1267C>T protEffect DMD:p.Gln423Stop
DMD:c.1286C>A protEffect DMD:p.Ser429Stop
DMD:c.1286C>G protEffect DMD:p.Ser429Stop
DMD:c.1292G>A protEffect DMD:p.Trp431Stop
DMD:c.1293G>A protEffect DMD:p.Trp431Stop
DMD:c.1310C>G protEffect DMD:p.Ala437Gly
DMD:c.131T>G protEffect DMD:p.Leu44Arg
DMD:c.1324C>T protEffect DMD:p.Gln442Stop
DMD:c.1334T>G protEffect DMD:p.Leu445Stop
DMD:c.1337A>G protEffect DMD:p.His446Arg
DMD:c.133C>T protEffect DMD:p.Gln45Stop
DMD:c.1357C>T protEffect DMD:p.Gln453Stop
DMD:c.136G>T protEffect DMD:p.Asp46Tyr
DMD:c.137A>T protEffect DMD:p.Asp46Val
DMD:c.1388G>A protEffect DMD:p.Trp463Stop
DMD:c.1426G>T protEffect DMD:p.Glu476Stop
DMD:c.1429G>T protEffect DMD:p.Glu477Stop
DMD:c.1438G>T protEffect DMD:p.Gly480Stop
DMD:c.1465C>T protEffect DMD:p.Gln489Stop
DMD:c.1471C>T protEffect DMD:p.Gln491Stop
DMD:c.1474C>T protEffect DMD:p.Gln492Stop
DMD:c.1489C>T protEffect DMD:p.Gln497Stop
DMD:c.1512A>T protEffect DMD:p.Gln504His
DMD:c.1513G>C protEffect DMD:p.Val505Leu
DMD:c.1513G>T protEffect DMD:p.Val505Phe
DMD:c.1554T>A protEffect DMD:p.Asp518Glu
DMD:c.1555G>T protEffect DMD:p.Glu519Stop
DMD:c.1580C>A protEffect DMD:p.Ala527Asp
DMD:c.1594C>T protEffect DMD:p.Gln532Stop
DMD:c.1602G>T protEffect DMD:p.Lys534Asn
DMD:c.1609G>T protEffect DMD:p.Gly537Stop
DMD:c.1615C>T protEffect DMD:p.Arg539Stop
DMD:c.1616G>A protEffect DMD:p.Arg539Gln
DMD:c.1619G>A protEffect DMD:p.Trp540Stop
DMD:c.161T>G protEffect DMD:p.Leu54Arg
DMD:c.1633A>T protEffect DMD:p.Arg545Stop
DMD:c.1635A>G protEffect DMD:p.Arg545Arg
DMD:c.1637G>A protEffect DMD:p.Trp546Stop
DMD:c.1642G>T protEffect DMD:p.Glu548Stop
DMD:c.1663C>T protEffect DMD:p.Gln555Stop
DMD:c.1674T>G protEffect DMD:p.Leu558Leu
DMD:c.1682G>A protEffect DMD:p.Trp561Stop
DMD:c.1683G>A protEffect DMD:p.Trp561Stop
DMD:c.1684C>T protEffect DMD:p.Gln562Stop
DMD:c.1692T>C protEffect DMD:p.Leu564Leu
DMD:c.1699G>T protEffect DMD:p.Glu567Stop
DMD:c.1702C>T protEffect DMD:p.Gln568Stop
DMD:c.1718C>T protEffect DMD:p.Ala573Val
DMD:c.1721G>A protEffect DMD:p.Trp574Stop
DMD:c.1724T>C protEffect DMD:p.Leu575Pro
DMD:c.1727C>A protEffect DMD:p.Ser576Stop
DMD:c.1783G>T protEffect DMD:p.Glu595Stop
DMD:c.178C>T protEffect DMD:p.Gln60Stop
DMD:c.1793C>G protEffect DMD:p.Ser598Stop
DMD:c.1817T>G protEffect DMD:p.Leu606Stop
DMD:c.1843C>T protEffect DMD:p.Gln615Stop
DMD:c.1865C>G protEffect DMD:p.Ser622Stop
DMD:c.1869C>T protEffect DMD:p.Leu623Leu
DMD:c.1873C>T protEffect DMD:p.Gln625Stop
DMD:c.1888A>G protEffect DMD:p.Thr630Ala
DMD:c.1928G>A protEffect DMD:p.Trp643Stop
DMD:c.1934A>G protEffect DMD:p.Asp645Gly
DMD:c.193G>T protEffect DMD:p.Glu65Stop
DMD:c.1952G>A protEffect DMD:p.Trp651Stop
DMD:c.1961T>A protEffect DMD:p.Leu654Stop
DMD:c.1961T>G protEffect DMD:p.Leu654Stop
DMD:c.1966C>T protEffect DMD:p.Gln656Stop
DMD:c.1973T>C protEffect DMD:p.Leu658Pro
DMD:c.1975G>T protEffect DMD:p.Glu659Stop
DMD:c.1990C>T protEffect DMD:p.Gln664Stop
DMD:c.1999C>T protEffect DMD:p.Gln667Stop
DMD:c.199G>T protEffect DMD:p.Gly67Stop
DMD:c.2017C>T protEffect DMD:p.Gln673Stop
DMD:c.2032C>T protEffect DMD:p.Gln678Stop
DMD:c.2047G>T protEffect DMD:p.Glu683Stop
DMD:c.2060C>T protEffect DMD:p.Thr687Met
DMD:c.2077C>T protEffect DMD:p.Gln693Stop
DMD:c.2089A>T protEffect DMD:p.Lys697Stop
DMD:c.2098C>T protEffect DMD:p.Gln700Stop
DMD:c.2104G>T protEffect DMD:p.Glu702Stop
DMD:c.2125C>T protEffect DMD:p.Gln709Stop
DMD:c.2128A>T protEffect DMD:p.Lys710Stop
DMD:c.2137C>T protEffect DMD:p.Gln713Stop
DMD:c.2143A>T protEffect DMD:p.Thr715Ser
DMD:c.2176G>T protEffect DMD:p.Val726Phe
DMD:c.2227C>T protEffect DMD:p.Gln743Stop
DMD:c.2236G>T protEffect DMD:p.Glu746Stop
DMD:c.2257G>T protEffect DMD:p.Glu753Stop
DMD:c.2270C>G protEffect DMD:p.Ser757Stop
DMD:c.2281G>T protEffect DMD:p.Glu761Stop
DMD:c.2291A>G protEffect DMD:p.Asn764Ser
DMD:c.2299G>T protEffect DMD:p.Glu767Stop
DMD:c.22G>T protEffect DMD:p.Glu8Stop
DMD:c.2302C>T protEffect DMD:p.Arg768Stop
DMD:c.2308A>T protEffect DMD:p.Lys770Stop
DMD:c.2314G>T protEffect DMD:p.Glu772Stop
DMD:c.2317A>G protEffect DMD:p.Lys773Glu
DMD:c.2317A>T protEffect DMD:p.Lys773Stop
DMD:c.2353C>T protEffect DMD:p.Gln785Stop
DMD:c.2365G>T protEffect DMD:p.Glu789Stop
DMD:c.2368C>T protEffect DMD:p.Gln790Stop
DMD:c.2370G>T protEffect DMD:p.Gln790His
DMD:c.2378A>G protEffect DMD:p.Asn793Ser
DMD:c.2391T>G protEffect DMD:p.Asn797Lys
DMD:c.2396A>G protEffect DMD:p.Asp799Gly
DMD:c.2404A>T protEffect DMD:p.Lys802Stop
DMD:c.2407C>T protEffect DMD:p.Gln803Stop
DMD:c.2416G>T protEffect DMD:p.Glu806Stop
DMD:c.2418A>C protEffect DMD:p.Glu806Asp
DMD:c.2419C>T protEffect DMD:p.Gln807Stop
DMD:c.2435G>A protEffect DMD:p.Trp812Stop
DMD:c.2440G>T protEffect DMD:p.Glu814Stop
DMD:c.2449C>T protEffect DMD:p.Gln817Stop
DMD:c.2457A>C protEffect DMD:p.Leu819Leu
DMD:c.245G>C protEffect DMD:p.Arg82Pro
DMD:c.2474G>A protEffect DMD:p.Trp825Stop
DMD:c.2475G>A protEffect DMD:p.Trp825Stop
DMD:c.2479G>T protEffect DMD:p.Glu827Stop
DMD:c.2484T>G protEffect DMD:p.Tyr828Stop
DMD:c.2485C>T protEffect DMD:p.Gln829Stop
DMD:c.2490C>T protEffect DMD:p.Asn830Asn
DMD:c.2512C>T protEffect DMD:p.Gln838Stop
DMD:c.2521C>T protEffect DMD:p.Gln841Stop
DMD:c.2527G>T protEffect DMD:p.Glu843Stop
DMD:c.2530C>T protEffect DMD:p.Gln844Stop
DMD:c.253C>T protEffect DMD:p.Gln85Stop
DMD:c.2558T>A protEffect DMD:p.Leu853Stop
DMD:c.2566C>T protEffect DMD:p.Gln856Stop
DMD:c.2582C>G protEffect DMD:p.Ser861Stop
DMD:c.2602A>G protEffect DMD:p.Ser868Gly
DMD:c.2605C>T protEffect DMD:p.Gln869Stop
DMD:c.2611A>T protEffect DMD:p.Lys871Stop
DMD:c.2622G>C protEffect DMD:p.Lys874Asn
DMD:c.2645G>A protEffect DMD:p.Gly882Asp
DMD:c.2650C>T protEffect DMD:p.Gln884Stop
DMD:c.2665C>T protEffect DMD:p.Arg889Stop
DMD:c.2669T>G protEffect DMD:p.Leu890Stop
DMD:c.2671A>T protEffect DMD:p.Lys891Stop
DMD:c.2677C>T protEffect DMD:p.Gln893Stop
DMD:c.2701G>T protEffect DMD:p.Gly901Stop
DMD:c.2707G>T protEffect DMD:p.Gly903Stop
DMD:c.272T>A protEffect DMD:p.Leu91Stop
DMD:c.2755A>T protEffect DMD:p.Lys919Stop
DMD:c.2758C>T protEffect DMD:p.Gln920Stop
DMD:c.2762T>C protEffect DMD:p.Val921Ala
DMD:c.2776C>T protEffect DMD:p.Gln926Stop
DMD:c.2788A>T protEffect DMD:p.Lys930Stop
DMD:c.2791G>T protEffect DMD:p.Glu931Stop
DMD:c.2795T>C protEffect DMD:p.Leu932Pro
DMD:c.2797C>T protEffect DMD:p.Gln933Stop
DMD:c.2833C>T protEffect DMD:p.Gln945Stop
DMD:c.2836G>T protEffect DMD:p.Glu946Stop
DMD:c.2862G>A protEffect DMD:p.Trp954Stop
DMD:c.2866C>T protEffect DMD:p.Gln956Stop
DMD:c.2869C>T protEffect DMD:p.Gln957Stop
DMD:c.2873C>G protEffect DMD:p.Ser958Stop
DMD:c.2916T>A protEffect DMD:p.Tyr972Stop
DMD:c.2929C>T protEffect DMD:p.Gln977Stop
DMD:c.2947C>T protEffect DMD:p.Gln983Stop
DMD:c.2949G>C protEffect DMD:p.Gln983His
DMD:c.2954T>A protEffect DMD:p.Leu985Stop
DMD:c.2956C>T protEffect DMD:p.Gln986Stop
DMD:c.2968C>T protEffect DMD:p.Gln990Stop
DMD:c.2971G>C protEffect DMD:p.Glu991Gln
DMD:c.2971G>T protEffect DMD:p.Glu991Stop
DMD:c.2974C>T protEffect DMD:p.Gln992Stop
DMD:c.2991C>G protEffect DMD:p.Tyr997Stop
DMD:c.2994T>A protEffect DMD:p.Tyr998Stop
DMD:c.3021G>A protEffect DMD:p.Ser1007Ser
DMD:c.3030G>T protEffect DMD:p.Ala1010Ala
DMD:c.3049A>T protEffect DMD:p.Lys1017Stop
DMD:c.3054T>G protEffect DMD:p.Tyr1018Stop
DMD:c.3059C>G protEffect DMD:p.Ser1020Stop
DMD:c.3061G>T protEffect DMD:p.Glu1021Stop
DMD:c.3067G>T protEffect DMD:p.Glu1023Stop
DMD:c.3076G>T protEffect DMD:p.Glu1026Stop
DMD:c.3086G>A protEffect DMD:p.Trp1029Stop
DMD:c.3087G>A protEffect DMD:p.Trp1029Stop
DMD:c.3103C>T protEffect DMD:p.Gln1035Stop
DMD:c.3121C>T protEffect DMD:p.Gln1041Stop
DMD:c.3136C>T protEffect DMD:p.Gln1046Stop
DMD:c.313A>T protEffect DMD:p.Lys105Stop
DMD:c.3151C>T protEffect DMD:p.Arg1051Stop
DMD:c.3188G>A protEffect DMD:p.Trp1063Stop
DMD:c.3196G>T protEffect DMD:p.Glu1066Stop
DMD:c.3217G>T protEffect DMD:p.Glu1073Stop
DMD:c.3220G>T protEffect DMD:p.Glu1074Stop
DMD:c.3224G>A protEffect DMD:p.Trp1075Stop
DMD:c.3244G>T protEffect DMD:p.Glu1082Stop
DMD:c.3256A>T protEffect DMD:p.Lys1086Stop
DMD:c.3259C>T protEffect DMD:p.Gln1087Stop
DMD:c.3268C>T protEffect DMD:p.Gln1090Stop
DMD:c.3274A>T protEffect DMD:p.Arg1092Stop
DMD:c.3281T>G protEffect DMD:p.Leu1094Stop
DMD:c.329T>A protEffect DMD:p.Leu110Stop
DMD:c.3300A>C protEffect DMD:p.Thr1100Thr
DMD:c.3304C>T protEffect DMD:p.Gln1102Stop
DMD:c.3326A>T protEffect DMD:p.Asn1109Ile
DMD:c.3337C>T protEffect DMD:p.Gln1113Stop
DMD:c.3340A>T protEffect DMD:p.Lys1114Stop
DMD:c.3351T>G protEffect DMD:p.Asn1117Lys
DMD:c.3352G>T protEffect DMD:p.Glu1118Stop
DMD:c.3392T>C protEffect DMD:p.Leu1131Pro
ADM_1 commonName Ala79Val
ADM_1 alias NM_000021.2:c.236C>T
ADM_1 protEffect NP_000012.1:p.A79V
ADM_1 disease phenotype-associated
ADM_1 phenoCommon Alzheimer Disease
ADM_1 comment Point mutation in coding region predicting an amino acid substitution
ADM_2 commonName Ile143Thr
ADM_2 alias NM_000021.2:c.428T>C
ADM_2 protEffect NP_000012.1:p.I143T
ADM_2 disease phenotype-associated
ADM_2 phenoCommon Alzheimer Disease
ADM_2 comment Point mutation in coding region predicting an amino acid substitution
ADM_3 commonName Val82Leu
ADM_3 alias NM_000021.2:c.244G>C
ADM_3 protEffect NP_000012.1:p.V82L
ADM_3 disease phenotype-associated
ADM_3 phenoCommon Alzheimer Disease
ADM_3 comment Point mutation in coding region predicting an amino acid substitution
ADM_5 commonName Val96Phe
ADM_5 alias NM_000021.2:c.286G>T
ADM_5 protEffect NP_000012.1:p.V96F
ADM_5 disease phenotype-associated
ADM_5 phenoCommon Alzheimer Disease
ADM_5 comment Point mutation in coding region predicting an amino acid substitution
ADM_6 commonName Intron4; InsTAC
ADM_6 alias NM_000021.2:c.338_339insTAC; c.170_338del; c.88_338del
ADM_6 protEffect NP_000012.1:p.L113_I114insT; p.D31Frameshift; p.G57Frameshift
ADM_6 disease phenotype-associated
ADM_6 phenoCommon Alzheimer Disease
ADM_6 comment "Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon."
ADM_7 commonName Tyr115Cys
ADM_7 alias NM_000021.2:c.344A>G
ADM_7 protEffect NP_000012.1:p.Y115C
ADM_7 disease phenotype-associated
ADM_7 phenoCommon Alzheimer Disease
ADM_7 comment Point mutation in coding region predicting an amino acid substitution
ADM_8 commonName Tyr115His
ADM_8 alias NM_000021.2:c.343T>C
ADM_8 protEffect NP_000012.1:p.Y115H
ADM_8 disease phenotype-associated
ADM_8 phenoCommon Alzheimer Disease
ADM_8 comment Point mutation in coding region predicting an amino acid substitution
ADM_9 commonName Pro117Leu
ADM_9 alias NM_000021.2:c.350C>T
ADM_9 protEffect NP_000012.1:p.P117L
ADM_9 disease phenotype-associated
ADM_9 phenoCommon Alzheimer Disease
ADM_9 comment Point mutation in coding region predicting an amino acid substitution
ADM_10 commonName Glu120Asp
ADM_10 alias NM_000021.2:c.360A>T
ADM_10 protEffect NP_000012.1:p.E120D
ADM_10 disease phenotype-associated
ADM_10 phenoCommon Alzheimer Disease
ADM_10 comment Point mutation in coding region predicting an amino acid substitution
ADM_11 commonName Glu120Lys
ADM_11 alias NM_000021.2:c.358G>A
ADM_11 protEffect NP_000012.1:p.E120K
ADM_11 disease phenotype-associated
ADM_11 phenoCommon Alzheimer Disease
ADM_11 comment Point mutation in coding region predicting an amino acid substitution
ADM_12 commonName Asn135Asp
ADM_12 alias NM_000021.2:c.403A>G
ADM_12 protEffect NP_000012.1:p.N135D
ADM_12 disease phenotype-associated
ADM_12 phenoCommon Alzheimer Disease
ADM_12 comment Point mutation in coding region predicting an amino acid substitution
ADM_13 commonName Met139Ile
ADM_13 alias NM_000021.2:c.417G>A
ADM_13 protEffect NP_000012.1:p.M139I
ADM_13 disease phenotype-associated
ADM_13 phenoCommon Alzheimer Disease
ADM_13 comment Point mutation in coding region predicting an amino acid substitution
ADM_14 commonName Met139Thr
ADM_14 alias NM_000021.2:c.416T>C
ADM_14 protEffect NP_000012.1:p.M139T
ADM_14 disease phenotype-associated
ADM_14 phenoCommon Alzheimer Disease
ADM_14 comment Point mutation in coding region predicting an amino acid substitution
ADM_15 commonName Met139Val
ADM_15 alias NM_000021.2:c.415A>G
ADM_15 protEffect NP_000012.1:p.M139V
ADM_15 disease phenotype-associated
ADM_15 phenoCommon Alzheimer Disease / Frontotemporal Dementia
ADM_15 comment Point mutation in coding region predicting an amino acid substitution
ADM_16 commonName Ile143Phe
ADM_16 alias NM_000021.2:c.427A>T
ADM_16 protEffect NP_000012.1:p.I143F
ADM_16 disease phenotype-associated
ADM_16 phenoCommon Alzheimer Disease
ADM_16 comment Point mutation in coding region predicting an amino acid substitution
ADM_17 commonName Met146Ile
ADM_17 alias NM_000021.2:c.438G>C
ADM_17 protEffect NP_000012.1:p.M146I
ADM_17 disease phenotype-associated
ADM_17 phenoCommon Alzheimer Disease
ADM_17 comment Point mutation in coding region predicting an amino acid substitution
ADM_18 commonName Met146Leu
ADM_18 alias NM_000021.2:c.436A>T
ADM_18 protEffect NP_000012.1:p.M146L
ADM_18 disease phenotype-associated
ADM_18 phenoCommon Alzheimer Disease
ADM_18 comment Point mutation in coding region predicting an amino acid substitution
ADM_19 commonName Met146Val
ADM_19 alias NM_000021.2:c.436A>G
ADM_19 protEffect NP_000012.1:p.M146V
ADM_19 disease phenotype-associated
ADM_19 phenoCommon Alzheimer Disease
ADM_19 comment Point mutation in coding region predicting an amino acid substitution
ADM_20 commonName His163Arg
ADM_20 alias NM_000021.2:c.488A>G
ADM_20 protEffect NP_000012.1:p.H163R
ADM_20 disease phenotype-associated
ADM_20 phenoCommon Alzheimer Disease / Myoclonus
ADM_20 comment Point mutation in coding region predicting an amino acid substitution
ADM_21 commonName His163Tyr
ADM_21 alias NM_000021.2:c.487C>T
ADM_21 protEffect NP_000012.1:p.H163Y
ADM_21 disease phenotype-associated
ADM_21 phenoCommon Alzheimer Disease
ADM_21 comment Point mutation in coding region predicting an amino acid substitution
ADM_22 commonName Glu184Asp
ADM_22 alias NM_000021.2:c.552A>C
ADM_22 protEffect NP_000012.1:p.E184D
ADM_22 disease phenotype-associated
ADM_22 phenoCommon Alzheimer Disease
ADM_22 comment Point mutation in coding region predicting an amino acid substitution
ADM_23 commonName Gly209Val
ADM_23 alias NM_000021.2:c.626G>T
ADM_23 protEffect NP_000012.1:p.G209V
ADM_23 disease phenotype-associated
ADM_23 phenoCommon Alzheimer Disease
ADM_23 comment Point mutation in coding region predicting an amino acid substitution
ADM_24 commonName Ile213Thr
ADM_24 alias NM_000021.2:c.638T>C
ADM_24 protEffect NP_000012.1:p.I213T
ADM_24 disease phenotype-associated
ADM_24 phenoCommon Alzheimer Disease
ADM_24 comment Point mutation in coding region predicting an amino acid substitution
ADM_25 commonName Ala231Thr
ADM_25 alias NM_000021.2:c.691G>A
ADM_25 protEffect NP_000012.1:p.A231T
ADM_25 disease phenotype-associated
ADM_25 phenoCommon Alzheimer Disease
ADM_25 comment Point mutation in coding region predicting an amino acid substitution
ADM_26 commonName Ala231Val
ADM_26 alias NM_000021.2:c.692C>T
ADM_26 protEffect NP_000012.1:p.A231V
ADM_26 disease phenotype-associated
ADM_26 phenoCommon Alzheimer Disease
ADM_26 comment Point mutation in coding region predicting an amino acid substitution
ADM_27 commonName Met233Thr
ADM_27 alias NM_000021.2:c.698T>C
ADM_27 protEffect NP_000012.1:p.M233T
ADM_27 disease phenotype-associated
ADM_27 phenoCommon Alzheimer Disease
ADM_27 comment Point mutation in coding region predicting an amino acid substitution
ADM_28 commonName Leu235Pro
ADM_28 alias NM_000021.2:c.704T>C
ADM_28 protEffect NP_000012.1:p.L235P
ADM_28 disease phenotype-associated
ADM_28 phenoCommon Alzheimer Disease / Myoclonus
ADM_28 comment Point mutation in coding region predicting an amino acid substitution
ADM_29 commonName Ala246Glu
ADM_29 alias NM_000021.2:c.737C>A
ADM_29 protEffect NP_000012.1:p.A246E
ADM_29 disease phenotype-associated
ADM_29 phenoCommon Alzheimer Disease
ADM_29 comment Point mutation in coding region predicting an amino acid substitution
ADM_30 commonName Leu250Ser
ADM_30 alias NM_000021.2:c.749T>C
ADM_30 protEffect NP_000012.1:p.L250S
ADM_30 disease phenotype-associated
ADM_30 phenoCommon Alzheimer Disease
ADM_30 comment Point mutation in coding region predicting an amino acid substitution
ADM_31 commonName Ala260Val
ADM_31 alias NM_000021.2:c.779C>T
ADM_31 protEffect NP_000012.1:p.A260V
ADM_31 disease phenotype-associated
ADM_31 phenoCommon Alzheimer Disease
ADM_31 comment Point mutation in coding region predicting an amino acid substitution
ADM_32 commonName Leu262Phe
ADM_32 alias NM_000021.2:c.786G>C
ADM_32 protEffect NP_000012.1:p.L262F
ADM_32 disease phenotype-associated
ADM_32 phenoCommon Alzheimer Disease
ADM_32 comment Point mutation in coding region predicting an amino acid substitution
ADM_33 commonName Cys263Arg
ADM_33 alias NM_000021.2:c.787T>C
ADM_33 protEffect NP_000012.1:p.C263R
ADM_33 disease phenotype-associated
ADM_33 phenoCommon Alzheimer Disease
ADM_33 comment Point mutation in coding region predicting an amino acid substitution
ADM_34 commonName Pro264Leu
ADM_34 alias NM_000021.2:c.791C>T
ADM_34 protEffect NP_000012.1:p.P264L
ADM_34 disease phenotype-associated
ADM_34 phenoCommon Alzheimer Disease or Atypical Dementia / Spastic Paraparesis
ADM_34 comment Point mutation in coding region predicting an amino acid substitution
ADM_35 commonName Pro267Ser
ADM_35 alias NM_000021.2:c.799C>T
ADM_35 protEffect NP_000012.1:p.P267S
ADM_35 disease phenotype-associated
ADM_35 phenoCommon Alzheimer Disease
ADM_35 comment Point mutation in coding region predicting an amino acid substitution
ADM_36 commonName Arg269Gly
ADM_36 alias NM_000021.2:c.805C>G
ADM_36 protEffect NP_000012.1:p.R269G
ADM_36 disease phenotype-associated
ADM_36 phenoCommon Alzheimer Disease / Myoclonus
ADM_36 comment Point mutation in coding region predicting an amino acid substitution
ADM_37 commonName Arg269His
ADM_37 alias NM_000021.2:c.806G>A
ADM_37 protEffect NP_000012.1:p.R269H
ADM_37 disease phenotype-associated
ADM_37 phenoCommon Alzheimer Disease / Myoclonus
ADM_37 comment Point mutation in coding region predicting an amino acid substitution
ADM_38 commonName Arg278Thr
ADM_38 alias NM_000021.2:c.833G>C
ADM_38 protEffect NP_000012.1:p.R278T
ADM_38 disease phenotype-associated
ADM_38 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_38 comment Point mutation in coding region predicting an amino acid substitution
ADM_39 commonName Glu280Ala
ADM_39 alias NM_000021.2:c.839A>C
ADM_39 protEffect NP_000012.1:p.E280A
ADM_39 disease phenotype-associated
ADM_39 phenoCommon Alzheimer Disease
ADM_39 comment Point mutation in coding region predicting an amino acid substitution
ADM_40 commonName Glu280Gly
ADM_40 alias NM_000021.2:c.839A>G
ADM_40 protEffect NP_000012.1:p.E280G
ADM_40 disease phenotype-associated
ADM_40 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_40 comment Point mutation in coding region predicting an amino acid substitution
ADM_41 commonName Leu282Arg
ADM_41 alias NM_000021.2:c.845T>G
ADM_41 protEffect NP_000012.1:p.L282R
ADM_41 disease phenotype-associated
ADM_41 phenoCommon Alzheimer Disease
ADM_41 comment Point mutation in coding region predicting an amino acid substitution
ADM_42 commonName Ala285Val
ADM_42 alias NM_000021.2:c.854C>T
ADM_42 protEffect NP_000012.1:p.A285V
ADM_42 disease phenotype-associated
ADM_42 phenoCommon Alzheimer Disease
ADM_42 comment Point mutation in coding region predicting an amino acid substitution
ADM_43 commonName Leu286Val
ADM_43 alias NM_000021.2:c.856C>G
ADM_43 protEffect NP_000012.1:p.L286V
ADM_43 disease phenotype-associated
ADM_43 phenoCommon Alzheimer Disease
ADM_43 comment Point mutation in coding region predicting an amino acid substitution
ADM_44 commonName Gly378Glu
ADM_44 alias NM_000021.2:c.1133G>A
ADM_44 protEffect NP_000012.1:p.G378E
ADM_44 disease phenotype-associated
ADM_44 phenoCommon Alzheimer Disease / CAA
ADM_44 comment Point mutation in coding region predicting an amino acid substitution
ADM_45 commonName Gly384Ala
ADM_45 alias NM_000021.2:c.1151G>C
ADM_45 protEffect NP_000012.1:p.G384A
ADM_45 disease phenotype-associated
ADM_45 phenoCommon Alzheimer Disease
ADM_45 comment Point mutation in coding region predicting an amino acid substitution
ADM_46 commonName Leu392Val
ADM_46 alias NM_000021.2:c.1174C>G
ADM_46 protEffect NP_000012.1:p.L392V
ADM_46 disease phenotype-associated
ADM_46 phenoCommon Alzheimer Disease
ADM_46 comment Point mutation in coding region predicting an amino acid substitution
ADM_47 commonName Cys410Tyr
ADM_47 alias NM_000021.2:c.1229G>A
ADM_47 protEffect NP_000012.1:p.C410Y
ADM_47 disease phenotype-associated
ADM_47 phenoCommon Alzheimer Disease
ADM_47 comment Point mutation in coding region predicting an amino acid substitution
ADM_48 commonName Ala426Pro
ADM_48 alias NM_000021.2:c.1276G>C
ADM_48 protEffect NP_000012.1:p.A426P
ADM_48 disease phenotype-associated
ADM_48 phenoCommon Alzheimer Disease
ADM_48 comment Point mutation in coding region predicting an amino acid substitution
ADM_50 commonName Arg62His
ADM_50 alias NM_000447.1:c.185G>A
ADM_50 protEffect NP_000438.1:p.R62H
ADM_50 phenoCommon Alzheimer Disease
ADM_50 comment Point mutation in coding region predicting an amino acid substitution
ADM_51 commonName Asn141Ile
ADM_51 alias NM_000447.1:c.422A>T
ADM_51 protEffect NP_000438.1:p.N141I
ADM_51 disease phenotype-associated
ADM_51 phenoCommon Alzheimer Disease
ADM_51 comment Point mutation in coding region predicting an amino acid substitution
ADM_52 commonName Val148Ile
ADM_52 alias NM_000447.1:c.442G>A
ADM_52 protEffect NP_000438.1:p.V148I
ADM_52 disease phenotype-associated
ADM_52 phenoCommon Alzheimer Disease
ADM_52 comment Point mutation in coding region predicting an amino acid substitution
ADM_53 commonName Met239Val
ADM_53 alias NM_000447.1:c.715A>G
ADM_53 protEffect NP_000438.1:p.M239V
ADM_53 disease phenotype-associated
ADM_53 phenoCommon Alzheimer Disease
ADM_53 comment Point mutation in coding region predicting an amino acid substitution
ADM_55 commonName APPKM670/671NL; Swedish APP
ADM_55 protEffect NP_000475.1:p.[K670N;M671L]
ADM_55 disease phenotype-associated
ADM_55 phenoCommon Alzheimer Disease
ADM_55 comment Double point mutation in coding region causing 2 adjacent amino acid changes
ADM_56 commonName Ala692Gly; Flemish APP
ADM_56 alias NM_000484.2:c.2018C>G
ADM_56 protEffect NP_000475.1:p.A692G
ADM_56 disease phenotype-associated
ADM_56 phenoCommon Alzheimer Disease / Cerebral Hemorrhage
ADM_56 comment Point mutation in coding region predicting an amino acid substitution
ADM_57 commonName Ile716Val; Florida APP
ADM_57 alias NM_000484.2:c.2146A>G
ADM_57 protEffect NP_000475.1:p.I716V
ADM_57 disease phenotype-associated
ADM_57 phenoCommon Alzheimer Disease
ADM_57 comment Point mutation in coding region predicting an amino acid substitution
ADM_58 commonName Val717Gly
ADM_58 alias NM_000484.2:c.2150T>G
ADM_58 protEffect NP_000475.1:p.V717G
ADM_58 disease phenotype-associated
ADM_58 phenoCommon Alzheimer Disease
ADM_58 comment Point mutation in coding region predicting an amino acid substitution
ADM_59 commonName Val717Ile; London APP
ADM_59 alias NM_000484.2:c.2149G>A
ADM_59 protEffect NP_000475.1:p.V717I
ADM_59 disease phenotype-associated
ADM_59 phenoCommon Alzheimer Disease
ADM_59 comment Point mutation in coding region predicting an amino acid substitution
ADM_60 commonName Val717Phe
ADM_60 alias NM_000484.2:c.2149G>T
ADM_60 protEffect NP_000475.1:p.V717F
ADM_60 disease phenotype-associated
ADM_60 phenoCommon Alzheimer Disease
ADM_60 comment Point mutation in coding region predicting an amino acid substitution
ADM_61 commonName Leu723Pro; Australian APP
ADM_61 alias NM_000484.2:c.2168T>C
ADM_61 protEffect NP_000475.1:p.L723P
ADM_61 disease phenotype-associated
ADM_61 phenoCommon Alzheimer Disease
ADM_61 comment Point mutation in coding region predicting an amino acid substitution
ADM_63 commonName Δ9
ADM_63 alias NM_000021.2:c.869_955del
ADM_63 protEffect NP_000012.1:p.[S290C;T291_S319del]
ADM_63 disease phenotype-associated
ADM_63 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_63 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10
ADM_64 commonName Δ9
ADM_64 alias NM_000021.2:c.869_955del
ADM_64 protEffect NP_000012.1:p.[S290C;T291_S319del]
ADM_64 disease phenotype-associated
ADM_64 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_64 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10
ADM_65 commonName Δ9Finn
ADM_65 alias NM_000021.2:c.869_955del
ADM_65 protEffect NP_000012.1:p.[S290C;T291_S319del]
ADM_65 disease phenotype-associated
ADM_65 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_65 comment 4555bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10
ADM_66 commonName Glu123Lys
ADM_66 alias NM_000021.2:c.367G>A
ADM_66 protEffect NP_000012.1:p.E123L
ADM_66 disease phenotype-associated
ADM_66 phenoCommon Alzheimer Disease
ADM_66 comment Point mutation in coding region predicting an amino acid substitution
ADM_67 commonName Glu273Ala
ADM_67 alias NM_000021.2:c.818A>C
ADM_67 protEffect NP_000012.1:p.E273A
ADM_67 disease phenotype-associated
ADM_67 phenoCommon Alzheimer Disease
DMD:c.3397G>T protEffect DMD:p.Glu1133Stop
ADM_67 comment Point mutation in coding region predicting an amino acid substitution
ADM_68 commonName Leu171Pro
ADM_68 alias NM_000021.2:c.512T>C
ADM_68 protEffect NP_000012.1:p.L171P
ADM_68 disease phenotype-associated
ADM_68 phenoCommon Alzheimer Disease
ADM_68 comment Point mutation in coding region predicting an amino acid substitution
ADM_69 commonName Ser169Leu
ADM_69 alias NM_000021.2:c.506C>T
ADM_69 protEffect NP_000012.1:p.S169L
ADM_69 disease phenotype-associated
ADM_69 phenoCommon Alzheimer Disease / Myoclonus
VAR_000005 commonName VAR_000005
ADM_69 comment Point mutation in coding region predicting an amino acid substitution
ADM_70 commonName Pro436Gln
ADM_70 alias NM_000021.2:c.1307C>A
ADM_70 protEffect NP_000012.1:p.P436Q
ADM_70 disease phenotype-associated
ADM_70 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_70 comment Point mutation in coding region predicting an amino acid substitution
ADM_71 commonName Val715Met; French APP
ADM_71 alias NM_000484.2:c.2143G>A
ADM_71 protEffect NP_000475.1:p.V715M
ADM_71 disease phenotype-associated
ADM_71 phenoCommon Alzheimer Disease
ADM_71 comment Point mutation in coding region predicting an amino acid substitution
ADM_72 commonName Leu219Pro
ADM_72 alias NM_000021.2:c.656T>C
ADM_72 protEffect NP_000012.1:p.L219P
ADM_72 disease phenotype-associated
ADM_72 phenoCommon Alzheimer Disease
ADM_72 comment Point mutation in coding region predicting an amino acid substitution
ADM_73 commonName Met233Leu
ADM_73 alias NM_000021.2:c.697A>C
ADM_73 protEffect NP_000012.1:p.M233L
ADM_73 disease phenotype-associated
ADM_73 phenoCommon Alzheimer Disease
ADM_73 comment Point mutation in coding region predicting an amino acid substitution
ADM_74 commonName Ala409Thr
ADM_74 alias NM_000021.2:c.1225G>A
ADM_74 protEffect NP_000012.1:p.A409T
ADM_74 disease phenotype-associated
ADM_74 phenoCommon Alzheimer Disease
ADM_74 comment Point mutation in coding region predicting an amino acid substitution
ADM_75 commonName Phe105Leu
ADM_75 alias NM_000021.2:c.315T>G
ADM_75 protEffect NP_000012.1:p.F105L
ADM_75 disease phenotype-associated
ADM_75 phenoCommon Alzheimer Disease
ADM_75 comment Point mutation in coding region predicting an amino acid substitution
ADM_76 commonName Thr122Pro
ADM_76 alias NM_000447.1:c.364A>C
ADM_76 protEffect NP_000438.1:p.T122P
ADM_76 disease phenotype-associated
ADM_76 phenoCommon Alzheimer Disease
ADM_76 comment Point mutation in coding region predicting an amino acid substitution
ADM_77 commonName Met239Ile
ADM_77 alias NM_000447.1:c.717G>A
ADM_77 protEffect NP_000438.1:p.M239I
ADM_77 disease phenotype-associated
ADM_77 phenoCommon Alzheimer Disease
ADM_77 comment Point mutation in coding region predicting an amino acid substitution
ADM_78 commonName Asn405Ser
ADM_78 alias NM_000021.2:c.1214A>G
ADM_78 protEffect NP_000012.1:p.N405S
ADM_78 disease phenotype-associated
ADM_78 phenoCommon Alzheimer Disease
ADM_78 comment Point mutation in coding region predicting an amino acid substitution
ADM_79 commonName Ser169Pro
ADM_79 alias NM_000021.2:c.505T>C
ADM_79 protEffect NP_000012.1:p.S169P
ADM_79 disease phenotype-associated
ADM_79 phenoCommon Alzheimer Disease / Myoclonus
ADM_79 comment Point mutation in coding region predicting an amino acid substitution
ADM_81 commonName Gly209Arg
ADM_81 alias NM_000021.2:c.625G>A
ADM_81 protEffect NP_000012.1:p.G209R
ADM_81 disease phenotype-associated
ADM_81 phenoCommon Alzheimer Disease
ADM_81 comment Point mutation in coding region predicting an amino acid substitution
ADM_82 commonName Met139Lys
ADM_82 alias NM_000021.2:c.416T>A
ADM_82 protEffect NP_000012.1:p.M139K
ADM_82 disease phenotype-associated
ADM_82 phenoCommon Alzheimer Disease
ADM_82 comment Point mutation in coding region predicting an amino acid substitution
ADM_83 commonName Thr147Ile
ADM_83 alias NM_000021.2:c.440C>T
ADM_83 protEffect NP_000012.1:p.T147I
ADM_83 disease phenotype-associated
ADM_83 phenoCommon Alzheimer Disease
ADM_83 comment Point mutation in coding region predicting an amino acid substitution
ADM_84 commonName Leu173Trp
ADM_84 alias NM_000021.2:c.518T>G
ADM_84 protEffect NP_000012.1:p.L173W
ADM_84 disease phenotype-associated
ADM_84 phenoCommon Alzheimer Disease
ADM_84 comment Point mutation in coding region predicting an amino acid substitution
ADM_85 commonName Trp165Cys
ADM_85 alias NM_000021.2:c.495G>C
ADM_85 protEffect NP_000012.1:p.W165C
ADM_85 disease phenotype-associated
ADM_85 phenoCommon Alzheimer Disease
ADM_85 comment Point mutation in coding region predicting an amino acid substitution
ADM_86 commonName Ser390Ile
ADM_86 alias NM_000021.2:c.1169G>T
ADM_86 protEffect NP_000012.1:p.S390I
ADM_86 disease phenotype-associated
ADM_86 phenoCommon Alzheimer Disease
ADM_86 comment Point mutation in coding region predicting an amino acid substitution
ADM_87 commonName Met146Ile
ADM_87 alias NM_000021.2:c.438G>A
ADM_87 protEffect NP_000012.1:p.M146I
ADM_87 disease phenotype-associated
ADM_87 phenoCommon Alzheimer Disease
ADM_87 comment Point mutation in coding region predicting an amino acid substitution
ADM_88 commonName Leu166Arg
ADM_88 alias NM_000021.2:c.497T>G
ADM_88 protEffect NP_000012.1:p.L166R
ADM_88 disease phenotype-associated
ADM_88 phenoCommon Alzheimer Disease
ADM_88 comment Point mutation in coding region predicting an amino acid substitution
ADM_89 commonName Pro436Ser
ADM_89 alias NM_000021.2:c.1306C>T
ADM_89 protEffect NP_000012.1:p.P936S
ADM_89 disease phenotype-associated
ADM_89 phenoCommon Alzheimer Disease
ADM_89 comment Point mutation in coding region predicting an amino acid substitution
ADM_90 commonName Val717Leu
ADM_90 alias NM_000484.2:c.2149G>C
ADM_90 protEffect NP_000475.1:p.V717L
ADM_90 disease phenotype-associated
ADM_90 phenoCommon Alzheimer Disease
ADM_90 comment Point mutation in coding region predicting an amino acid substitution
ADM_91 commonName Leu153Val
ADM_91 alias NM_000021.2:c.457C>G
ADM_91 protEffect NP_000012.1:p.L153V
ADM_91 disease phenotype-associated
ADM_91 phenoCommon Alzheimer Disease
ADM_91 comment Point mutation in coding region predicting an amino acid substitution
ADM_92 commonName Val261Phe
ADM_92 alias NM_000021.2:c.781G>T
ADM_92 protEffect NP_000012.1:p.V261F
ADM_92 disease phenotype-associated
ADM_92 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_92 comment Point mutation in coding region predicting an amino acid substitution
ADM_93 commonName Thr116Asn
ADM_93 alias NM_000021.2:c.347C>A
ADM_93 protEffect NP_000012.1:p.T116N
ADM_93 disease phenotype-associated
ADM_93 phenoCommon Alzheimer Disease
ADM_93 comment Point mutation in coding region predicting an amino acid substitution
ADM_94 commonName Leu219Phe
ADM_94 alias NM_000021.2:c.655C>T
ADM_94 protEffect NP_000012.1:p.L219F
ADM_94 disease phenotype-associated
ADM_94 phenoCommon Alzheimer Disease
ADM_94 comment Point mutation in coding region predicting an amino acid substitution
ADM_95 commonName Val94Met
ADM_95 alias NM_000021.2:c.280G>A
ADM_95 protEffect NP_000012.1:p.V94M
ADM_95 disease phenotype-associated
ADM_95 phenoCommon Alzheimer Disease
ADM_95 comment Point mutation in coding region predicting an amino acid substitution
ADM_96 commonName Glu693Gly; Arctic APP
ADM_96 alias NM_000484.2:c.2021A>G
ADM_96 protEffect NP_000475.1:p.E693G
ADM_96 disease phenotype-associated
ADM_96 phenoCommon Alzheimer Disease
ADM_96 comment Point mutation in coding region predicting an amino acid substitution
ADM_97 commonName "Thr714Ile, Austrian APP"
ADM_97 alias NM_000484.2:c.2141C>T
ADM_97 protEffect NP_000475.1:p.T714I
ADM_97 disease phenotype-associated
ADM_97 phenoCommon Alzheimer Disease
ADM_97 comment Point mutation in coding region predicting an amino acid substitution
ADM_98 commonName Δ9
ADM_98 alias NM_000021.2:c.869_955del
ADM_98 protEffect NP_000012.1:p.[S290C;T291_S319del]
ADM_98 disease phenotype-associated
ADM_98 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_98 comment 5858 bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10
ADM_99 commonName Glu120Asp
ADM_99 alias NM_000021.2:c.360A>C
ADM_99 protEffect NP_000012.1:p.E120D
ADM_99 disease phenotype-associated
ADM_99 phenoCommon Alzheimer Disease
ADM_99 comment Point mutation in coding region predicting an amino acid substitution
ADM_100 commonName Trp165Gly
ADM_100 alias NM_000021.2:c.493T>G
ADM_100 protEffect NP_000012.1:p.W165G
ADM_100 disease phenotype-associated
ADM_100 phenoCommon Alzheimer Disease
ADM_100 comment Point mutation in coding region predicting an amino acid substitution
ADM_101 commonName Leu392Pro
ADM_101 alias NM_000021.2:c.1175T>C
ADM_101 protEffect NP_000012.1:p.L392P
ADM_101 disease phenotype-associated
ADM_101 phenoCommon Alzheimer Disease / Epilepsy
ADM_101 comment Point mutation in coding region predicting an amino acid substitution
ADM_102 commonName Leu113Pro
ADM_102 alias NM_000021.2:c.338T>C
ADM_102 protEffect NP_000012.1:p.L113P
ADM_102 disease phenotype-associated
ADM_102 phenoCommon Alzheimer Disease / Frontotemporal Dementia
ADM_102 comment Point mutation in coding region predicting an amino acid substitution
ADM_103 commonName ΔI83/M84
ADM_103 alias NM_000021.2:c.247_252del
ADM_103 protEffect NP_000012.1:p.I83_M84del
ADM_103 disease phenotype-associated
ADM_103 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_103 comment Hexanucleotide deletion resulting in deletion of 2 amino acids
ADM_104 commonName Ala434Cys
ADM_104 protEffect NP_000012.1:p.A434C
ADM_104 disease phenotype-associated
ADM_104 phenoCommon Alzheimer Disease
ADM_104 comment Double Point mutation in coding region predicting an amino acid substitution
ADM_105 commonName Asp694Asn; Iowa APP
ADM_105 alias NM_000484.2:c.2080G>A
ADM_105 protEffect NP_000475.1:p.D694N
ADM_105 disease phenotype-associated
ADM_105 phenoCommon Alzheimer Disease / CAA / Cerebral Hemorrhage
ADM_105 comment Point mutation in coding region predicting an amino acid substitution
ADM_106 commonName Arg35Gln
ADM_106 alias NM_000021.2:c.104G>A
ADM_106 protEffect NP_000012.1:p.R35Q
ADM_106 disease not phenotype-associated
ADM_106 phenoCommon Alzheimer Disease
ADM_106 comment Point mutation in coding region predicting an amino acid substitution
ADM_107 commonName Met146Leu
ADM_107 alias NM_000021.2:c.436A>C
ADM_107 protEffect NP_000012.1:p.M146L
ADM_107 disease phenotype-associated
ADM_107 phenoCommon Alzheimer Disease / Pick Disease
ADM_107 comment Point mutation in coding region predicting an amino acid substitution
ADM_108 commonName Met146Ile
ADM_108 alias NM_000021.2:c.438G>T
ADM_108 protEffect NP_000012.1:p.M146I
ADM_108 disease phenotype-associated
ADM_108 phenoCommon Alzheimer Disease
ADM_108 comment Point mutation in coding region predicting an amino acid substitution
ADM_109 commonName InsFI
ADM_109 alias NM_000021.2:c.466_467insTTATAT
ADM_109 protEffect NP_000012.1:p.K155_Y156insFI
ADM_109 disease phenotype-associated
ADM_109 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_109 comment Insertion of 6 nucleotides in coding region predicting an insertion of FI between amino acids K155 and Y156
ADM_110 commonName Phe177Leu
ADM_110 alias NM_000021.2:c.529T>C
ADM_110 protEffect NP_000012.1:p.F177L
ADM_110 disease phenotype-associated
ADM_110 phenoCommon Alzheimer Disease
ADM_110 comment Point mutation in coding region predicting an amino acid substitution
ADM_111 commonName Phe177Ser
ADM_111 alias NM_000021.2:c.530T>C
ADM_111 protEffect NP_000012.1:p.F177S
ADM_111 disease phenotype-associated
ADM_111 phenoCommon Alzheimer Disease
ADM_111 comment Point mutation in coding region predicting an amino acid substitution
ADM_112 commonName Ser178Pro
ADM_112 alias NM_000021.2:c.532T>C
ADM_112 protEffect NP_000012.1:p.S178P
ADM_112 disease phenotype-associated
ADM_112 phenoCommon Alzheimer Disease
ADM_112 comment Point mutation in coding region predicting an amino acid substitution
ADM_113 commonName Gly206Ser
ADM_113 alias NM_000021.2:c.616G>A
ADM_113 protEffect NP_000012.1:p.G206S
ADM_113 disease phenotype-associated
ADM_113 phenoCommon Alzheimer Disease
ADM_113 comment Point mutation in coding region predicting an amino acid substitution
ADM_114 commonName Gly206Ala
ADM_114 alias NM_000021.2:c.617G>C
ADM_114 protEffect NP_000012.1:p.G206A
ADM_114 disease phenotype-associated
ADM_114 phenoCommon Alzheimer Disease
ADM_114 comment Point mutation in coding region predicting an amino acid substitution
ADM_115 commonName Gly209Glu
ADM_115 alias NM_000021.2:c.626G>A
ADM_115 protEffect NP_000012.1:p.G209E
ADM_115 disease phenotype-associated
ADM_115 phenoCommon Alzheimer Disease
ADM_115 comment Point mutation in coding region predicting an amino acid substitution
ADM_116 commonName Ile213Leu
ADM_116 alias NM_000021.2:c.637A>C
ADM_116 protEffect NP_000012.1:p.I213L
ADM_116 disease phenotype-associated
ADM_116 phenoCommon Alzheimer Disease
ADM_116 comment Point mutation in coding region predicting an amino acid substitution
ADM_117 commonName Gln222Arg
ADM_117 alias NM_000021.2:c.665A>G
ADM_117 protEffect NP_000012.1:p.Q222R
ADM_117 disease phenotype-associated
ADM_117 phenoCommon Alzheimer Disease
ADM_117 comment Point mutation in coding region predicting an amino acid substitution
ADM_118 commonName Thr274Arg
ADM_118 alias NM_000021.2:c.821C>G
ADM_118 protEffect NP_000012.1:p.T274R
ADM_118 disease phenotype-associated
ADM_118 phenoCommon Alzheimer Disease
ADM_118 comment Point mutation in coding region predicting an amino acid substitution
ADM_119 commonName Thr354Ile
ADM_119 alias NM_000021.2:c.1061C>T
ADM_119 protEffect NP_000012.1:p.T354I
ADM_119 phenoCommon Alzheimer Disease
ADM_119 comment Point mutation in coding region predicting an amino acid substitution
ADM_120 commonName Arg358Gln
ADM_120 alias NM_000021.2:c.1073G>A
ADM_120 protEffect NP_000012.1:p.R358Q
ADM_120 disease phenotype-associated
ADM_120 phenoCommon Alzheimer Disease
ADM_120 comment Point mutation in coding region predicting an amino acid substitution
ADM_121 commonName Ser365Tyr
ADM_121 alias NM_000021.2:c.1094C>A
ADM_121 protEffect NP_000012.1:p.S365Y
ADM_121 disease phenotype-associated
ADM_121 phenoCommon Alzheimer Disease
ADM_121 comment Point mutation in coding region predicting an amino acid substitution
ADM_122 commonName Gly394Val
ADM_122 alias NM_000021.2:c.1181G>T
ADM_122 protEffect NP_000012.1:p.G394V
ADM_122 disease phenotype-associated
ADM_122 phenoCommon Alzheimer Disease
ADM_122 comment Point mutation in coding region predicting an amino acid substitution
ADM_123 commonName Leu418Phe
ADM_123 alias NM_000021.2:c.1254G>T
ADM_123 protEffect NP_000012.1:p.L418F
ADM_123 disease phenotype-associated
ADM_123 phenoCommon Alzheimer Disease
ADM_123 comment Point mutation in coding region predicting an amino acid substitution
ADM_124 commonName Ala431Glu
ADM_124 alias NM_000021.2:c.1292C>A
ADM_124 protEffect NP_000012.1:p.A431E
ADM_124 disease phenotype-associated
ADM_124 phenoCommon Alzheimer Disease
ADM_124 comment Point mutation in coding region predicting an amino acid substitution
ADM_125 commonName Leu435Phe
ADM_125 alias NM_000021.2:c.1303C>T
ADM_125 protEffect NP_000012.1:p.L435F
ADM_125 disease phenotype-associated
ADM_125 phenoCommon Alzheimer Disease
ADM_125 comment Point mutation in coding region predicting an amino acid substitution
ADM_126 commonName Ile439Val
ADM_126 alias NM_000021.2:c.1315A>G
ADM_126 protEffect NP_000012.1:p.I439V
ADM_126 disease phenotype-associated
ADM_126 phenoCommon Alzheimer Disease
ADM_126 comment Point mutation in coding region predicting an amino acid substitution
ADM_127 commonName InsR352
ADM_127 alias NM_000021.2:c.1055_1056insTCG
ADM_127 protEffect NP_000012.1:p.R352_S353insR
ADM_127 phenoCommon Frontotemporal Dementia
ADM_127 comment Insertion of 3 nucleotides in coding region predicting an insertion of R between amino acids R352 and S353
ADM_128 commonName Met233Val
ADM_128 alias NM_000021.2:c.697A>G
ADM_128 protEffect NP_000012.1:p.M233V
ADM_128 disease phenotype-associated
ADM_128 phenoCommon Alzheimer Disease
ADM_128 comment Point mutation in coding region predicting an amino acid substitution
ADM_129 commonName Leu282Val
ADM_129 alias NM_000021.2:c.844C>G
ADM_129 protEffect NP_000012.1:p.L282V
ADM_129 disease phenotype-associated
ADM_129 phenoCommon Alzheimer Disease / CAA
ADM_129 comment Point mutation in coding region predicting an amino acid substitution
ADM_131 commonName Phe237Ile
ADM_131 alias NM_000021.2:c.709T>A
ADM_131 protEffect NP_000012.1:p.F237I
ADM_131 disease phenotype-associated
ADM_131 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_131 comment Point mutation in coding region predicting an amino acid substitution
ADM_132 commonName Asp439Ala
ADM_132 alias NM_000447.1:c.1316A>C
ADM_132 protEffect NP_000438.1:p.D439A
ADM_132 disease phenotype-associated
ADM_132 phenoCommon Alzheimer Disease
ADM_132 comment Point mutation in coding region predicting an amino acid substitution
ADM_133 commonName "Thr714Ala, Iranian APP"
ADM_133 alias NM_000484.2:c.2140A>G
ADM_133 protEffect NP_000475.1:p.T714A
ADM_133 disease phenotype-associated
ADM_133 phenoCommon Alzheimer Disease
ADM_133 comment Point mutation in coding region predicting an amino acid substitution
ADM_134 commonName Ser130Leu
ADM_134 alias NM_000447.1:c.389C>T
ADM_134 protEffect NP_000438.1:p.S130L
ADM_134 phenoCommon Alzheimer Disease
ADM_134 comment Point mutation in coding region predicting an amino acid substitution
ADM_135 commonName Leu174Met
ADM_135 alias NM_000021.2:c.520C>A
ADM_135 protEffect NP_000012.1:p.L174M
ADM_135 disease phenotype-associated
ADM_135 phenoCommon Alzheimer Disease
ADM_135 comment Point mutation in coding region predicting an amino acid substitution
ADM_136 commonName Cys92Ser
ADM_136 alias NM_000021.2:c.275G>C
ADM_136 protEffect NP_000012.1:p.C92S
ADM_136 disease phenotype-associated
ADM_136 phenoCommon Alzheimer Disease
ADM_136 comment Point mutation in coding region predicting an amino acid substitution
ADM_137 commonName Leu166Pro
ADM_137 alias NM_000021.2:c.497T>C
ADM_137 protEffect NP_000012.1:p.L166P
ADM_137 disease phenotype-associated
ADM_137 phenoCommon Alzheimer Disease
ADM_137 comment Point mutation in coding region predicting an amino acid substitution
ADM_138 commonName Gly217Asp
ADM_138 alias NM_000021.2:c.650G>A
ADM_138 protEffect NP_000012.1:p.G217D
ADM_138 disease phenotype-associated
ADM_138 phenoCommon Alzheimer Disease / Parkinsonism
ADM_138 comment Point mutation in coding region predicting an amino acid substitution
ADM_139 commonName Ile716Thr
ADM_139 alias NM_000484.2:c.2147T>C
ADM_139 protEffect NP_000475.1:p.I716T
ADM_139 disease phenotype-associated
ADM_139 phenoCommon Alzheimer Disease
ADM_139 comment Point mutation in coding region predicting an amino acid substitution
ADM_140 commonName Val715Ala; German APP
ADM_140 alias NM_000484.2:c.2144T>C
ADM_140 protEffect NP_000475.1:p.V715A
ADM_140 disease phenotype-associated
ADM_140 phenoCommon Alzheimer Disease
ADM_140 comment Point mutation in coding region predicting an amino acid substitution
ADM_141 commonName Ile143Met
ADM_141 alias NM_000021.2:c.429T>G
ADM_141 protEffect NP_000012.1:p.I143M
ADM_141 disease phenotype-associated
ADM_141 phenoCommon Alzheimer Disease
ADM_141 comment Point mutation in coding region predicting an amino acid substitution
ADM_142 commonName Val272Ala
ADM_142 alias NM_000021.2:c.815T>C
ADM_142 protEffect NP_000012.1:p.V272A
ADM_142 disease phenotype-associated
ADM_142 phenoCommon Alzheimer Disease / Subcortical dementia / Parkinsonism
ADM_142 comment Point mutation in coding region predicting an amino acid substitution
ADM_143 commonName Tyr154Cys
ADM_143 alias NM_000021.2:c.461A>G
ADM_143 protEffect NP_000012.1:p.Y154C
ADM_143 disease phenotype-associated
ADM_143 phenoCommon Alzheimer Disease
ADM_143 comment Point mutation in coding region predicting an amino acid substitution
ADM_144 commonName ΔI167
ADM_144 alias NM_000021.2:c.498_500delTAT
ADM_144 protEffect NP_000012.1:p.I167del
ADM_144 disease phenotype-associated
ADM_144 phenoCommon Alzheimer Disease
ADM_144 comment Trinucleotide deletion resulting in deletion of 1 amino acid
ADM_145 commonName Ile229Phe
ADM_145 alias NM_000021.2:c.685A>T
ADM_145 protEffect NP_000012.1:p.I229F
ADM_145 disease phenotype-associated
ADM_145 phenoCommon Alzheimer Disease
ADM_145 comment Point mutation in coding region predicting an amino acid substitution
ADM_146 commonName Leu235Val
ADM_146 alias NM_000021.2:c.703C>G
ADM_146 protEffect NP_000012.1:p.L235V
ADM_146 disease phenotype-associated
ADM_146 phenoCommon Alzheimer Disease
ADM_146 comment Point mutation in coding region predicting an amino acid substitution
ADM_147 commonName Phe237Leu
ADM_147 alias NM_000021.2:c.709T>C
ADM_147 protEffect NP_000012.1:p.F237L
ADM_147 disease phenotype-associated
ADM_147 phenoCommon Alzheimer Disease
ADM_147 comment Point mutation in coding region predicting an amino acid substitution
ADM_148 commonName Cys263Phe
ADM_148 alias NM_000021.2:c.788G>T
ADM_148 protEffect NP_000012.1:p.C263F
ADM_148 disease phenotype-associated
ADM_148 phenoCommon Alzheimer Disease
ADM_148 comment Point mutation in coding region predicting an amino acid substitution
ADM_149 commonName Arg377Met
ADM_149 alias NM_000021.2:c.1130G>T
ADM_149 protEffect NP_000012.1:p.R377M
ADM_149 disease phenotype-associated
ADM_149 phenoCommon Alzheimer Disease
ADM_149 comment Point mutation in coding region predicting an amino acid substitution
ADM_150 commonName Gly378Val
ADM_150 alias NM_000021.2:c.1133G>T
ADM_150 protEffect NP_000012.1:p.G378V
ADM_150 disease phenotype-associated
ADM_150 phenoCommon Alzheimer Disease
ADM_150 comment Point mutation in coding region predicting an amino acid substitution
ADM_151 commonName Pro117Ser
ADM_151 alias NM_000021.2:c.349C>T
ADM_151 protEffect NP_000012.1:p.P117S
ADM_151 disease phenotype-associated
ADM_151 phenoCommon Alzheimer Disease
ADM_151 comment Point mutation in coding region predicting an amino acid substitution
ADM_152 commonName Arg278Lys
ADM_152 alias NM_000021.2:c.833G>A
ADM_152 protEffect NP_000012.1:p.R278K
ADM_152 disease phenotype-associated
ADM_152 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_152 comment Point mutation in coding region predicting an amino acid substitution
ADM_153 commonName Glu693Gln; Dutch APP
ADM_153 alias NM_000484.2:c.2020G>C
ADM_153 protEffect NP_000475.1:p.E693Q
ADM_153 disease phenotype-associated
ADM_153 phenoCommon HCHWA-D
ADM_153 comment Point mutation in coding region predicting an amino acid substitution
ADM_154 commonName Val89Leu
ADM_154 alias NM_000021.2:c.265G>T
ADM_154 protEffect NP_000012.1:p.V89L
ADM_154 disease phenotype-associated
ADM_154 phenoCommon Alzheimer Disease / Behavioural Disturbances
ADM_154 comment Point mutation in coding region predicting an amino acid substitution
ADM_155 commonName Ala431Val
ADM_155 alias NM_000021.2:c.1292C>T
ADM_155 protEffect NP_000012.1:p.A431V
ADM_155 disease phenotype-associated
ADM_155 phenoCommon Alzheimer Disease
ADM_155 comment Point mutation in coding region predicting an amino acid substitution
ADM_156 commonName Leu271Val
ADM_156 alias NM_000021.2:c.811C>G
ADM_156 protEffect NP_000012.1:p.L271V
ADM_156 disease phenotype-associated
ADM_156 phenoCommon Alzheimer Disease
ADM_156 comment Point mutation in coding region predicting an amino acid substitution
ADM_157 commonName Pro334Arg
ADM_157 alias NM_000447.1:c.1001C>G
ADM_157 protEffect NP_000438.1:p.P334R
ADM_157 disease not phenotype-associated
ADM_157 phenoCommon No Phenotype
ADM_157 comment Point mutation in coding region predicting an amino acid substitution
ADM_158 commonName Thr430Met
ADM_158 alias NM_000447.1:c.1289C>T
ADM_158 protEffect NP_000438.1:p.T430M
ADM_158 disease phenotype-associated
ADM_158 phenoCommon Alzheimer Disease
ADM_158 comment Point mutation in coding region predicting an amino acid substitution
ADM_159 commonName Ala713Thr
ADM_159 protEffect NP_000475.1:p.A713T
ADM_159 phenoCommon No Phenotype
ADM_159 comment Double point mutation in coding region. The first mutation at codon A713 causes an amino acid change. The second mutation at codon V715 is a silent mutation
ADM_160 commonName Ala673Thr
ADM_160 alias NM_000484.2:c.2017G>A
ADM_160 protEffect NP_000475.1:p.A673T
ADM_160 disease not phenotype-associated
ADM_160 phenoCommon No Phenotype
ADM_160 comment Point mutation in coding region predicting an amino acid substitution
ADM_161 commonName Phe175Ser
ADM_161 alias NM_000021.2:c.524T>C
ADM_161 protEffect NP_000012.1:p.F175S
ADM_161 disease not phenotype-associated
ADM_161 phenoCommon No Phenotype
ADM_161 comment Point mutation in coding region predicting an amino acid substitution
ADM_162 commonName Glu665Asp
ADM_162 alias NM_000484.2:c.1995G>C
ADM_162 protEffect NP_000475.1:p.E665D
ADM_162 disease not phenotype-associated
ADM_162 phenoCommon No Phenotype
ADM_162 comment Point mutation in coding region predicting an amino acid substitution
ADM_163 commonName Ala713Val
ADM_163 alias NM_000484.2:c.2138C>T
ADM_163 protEffect NP_000475.1:p.A713V
ADM_163 disease not phenotype-associated
ADM_163 phenoCommon No Phenotype
ADM_163 comment Point mutation in coding region predicting an amino acid substitution
ADM_164 commonName Glu318Gly
ADM_164 alias NM_000021.2:c.953A>G
ADM_164 protEffect NP_000012.1:p.E318G
ADM_164 disease not phenotype-associated
ADM_164 phenoCommon No Phenotype
ADM_164 comment Point mutation in coding region predicting an amino acid substitution
ADM_165 commonName Pro284Leu
ADM_165 alias NM_000021.2:c.851C>T
ADM_165 protEffect NP_000012.1:p.P284L
ADM_165 disease phenotype-associated
ADM_165 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_165 comment Point mutation in coding region predicting an amino acid substitution
ADM_166 commonName Gly206Val
ADM_166 alias NM_000021.2:c.617G>T
ADM_166 protEffect NP_000012.1:p.G206V
ADM_166 disease phenotype-associated
ADM_166 phenoCommon Alzheimer Disease
ADM_166 comment Point mutation in coding region predicting an amino acid substitution
ADM_167 commonName Leu250Val
ADM_167 alias NM_000021.2:c.748T>G
ADM_167 protEffect NP_000012.1:p.L250V
ADM_167 disease phenotype-associated
ADM_167 phenoCommon Alzheimer Disease / Myoclonus
DMD:c.3406A>T protEffect DMD:p.Thr1136Ser
ADM_167 comment Point mutation in coding region predicting an amino acid substitution
ADM_168 commonName Pro267Leu
ADM_168 alias NM_000021.2:c.800C>T
ADM_168 protEffect NP_000012.1:p.P267L
ADM_168 disease phenotype-associated
ADM_168 phenoCommon Alzheimer Disease
ADM_168 comment Point mutation in coding region predicting an amino acid substitution
ADM_169 commonName Leu424Arg
ADM_169 alias NM_000021.2:c.1271T>G
ADM_169 protEffect NP_000012.1:p.L424R
ADM_169 disease phenotype-associated
ADM_169 phenoCommon Alzheimer Disease
ADM_169 comment Point mutation in coding region predicting an amino acid substitution
ADM_170 commonName Gln222His
ADM_170 alias NM_000021.2:c.666G>C
ADM_170 protEffect NP_000012.1:p.Q222H
ADM_170 disease phenotype-associated
ADM_170 phenoCommon Alzheimer Disease
ADM_170 comment Point mutation in coding region predicting an amino acid substitution
ADM_171 commonName Tyr256Ser
ADM_171 alias NM_000021.2:c.767A>C
ADM_171 protEffect NP_000012.1:p.Y256S
ADM_171 disease phenotype-associated
ADM_171 phenoCommon Alzheimer Disease
ADM_171 comment Point mutation in coding region predicting an amino acid substitution
ADM_172 commonName Arg5His
ADM_172 alias BN000503.1:c.14G>A
ADM_172 protEffect CAG26750.1:p.R5H
ADM_172 disease phenotype-associated
ADM_172 phenoCommon Frontotemporal Dementia
ADM_172 comment Point mutation in coding region predicting an amino acid substitution
ADM_173 commonName Arg5Leu
ADM_173 alias BN000503.1:c.14G>T
ADM_173 protEffect CAG26750.1:p.R5L
ADM_173 disease phenotype-associated
ADM_173 phenoCommon Progressive Supranuclear Palsy
ADM_173 comment Point mutation in coding region predicting an amino acid substitution
ADM_174 commonName Lys257Thr
ADM_174 alias BN000503.1:c.1775A>C
ADM_174 protEffect CAG26750.1:p.K592T
ADM_174 disease phenotype-associated
ADM_174 phenoCommon Frontotemporal Dementia
ADM_174 comment Point mutation in coding region predicting an amino acid substitution
ADM_175 commonName Ile260Val
ADM_175 alias BN000503.1:c.1783A>G
ADM_175 protEffect CAG26750.1:p.I595V
ADM_175 disease phenotype-associated
ADM_175 phenoCommon Frontotemporal Dementia
ADM_175 comment Point mutation in coding region predicting an amino acid substitution
ADM_176 commonName Leu266Val
ADM_176 alias BN000503.1:c.1801C>G
ADM_176 protEffect CAG26750.1:p.L601V
ADM_176 disease phenotype-associated
ADM_176 phenoCommon Frontotemporal Dementia
ADM_176 comment Point mutation in coding region predicting an amino acid substitution
ADM_177 commonName Gly272Val
ADM_177 alias BN000503.1:c.1820G>T
ADM_177 protEffect CAG26750.1:p.G607V
ADM_177 disease phenotype-associated
ADM_177 phenoCommon Frontotemporal Dementia
ADM_177 comment Point mutation in coding region predicting an amino acid substitution
ADM_178 commonName Asn279Lys
ADM_178 alias BN000503.1:c.1842T>G
ADM_178 protEffect CAG26750.1:p.N614K
ADM_178 disease phenotype-associated
ADM_178 phenoCommon Frontotemporal Dementia
ADM_178 comment Point mutation in coding region predicting an amino acid substitution
ADM_179 commonName ΔK280;ΔK281
ADM_179 alias BN000503.1:c.1846_1848delAAG
ADM_179 protEffect CAG26750.1:p.deltaK616
ADM_179 phenoCommon Frontotemporal Dementia / Alzheimer Disease
ADM_179 comment Trinucleotide deletion resulting in deletion of 1 amino acid
ADM_180 commonName Leu284Leu
ADM_180 alias BN000503.1:c.1857T>C
ADM_180 protEffect CAG26750.1:p.L619L
ADM_180 disease phenotype-associated
ADM_180 phenoCommon Frontotemporal Dementia
ADM_180 comment Silent point mutation in coding region affecting alternative splicing of exon 10
ADM_181 commonName Asn296Asn
ADM_181 alias BN000503.1:c.1893T>C
ADM_181 protEffect CAG26750.1:p.N631N
ADM_181 disease phenotype-associated
ADM_181 phenoCommon Frontotemporal Dementia
ADM_181 comment Silent point mutation in coding region affecting alternative splicing of exon 10
ADM_182 commonName Asn296His
ADM_182 alias BN000503.1:c.1891A>C
ADM_182 protEffect CAG26750.1:p.N631H
ADM_182 disease phenotype-associated
ADM_182 phenoCommon Frontotemporal Dementia
ADM_182 comment Point mutation in coding region predicting an amino acid substitution
ADM_183 commonName ΔN296
ADM_183 alias BN000503.1:c.1892_1894delATA
ADM_183 protEffect CAG26750.1:p.deltaN631
ADM_183 disease phenotype-associated
ADM_183 phenoCommon Progressive Supranuclear Palsy
ADM_183 comment Trinucleotide deletion resulting in deletion of 1 amino acid
ADM_184 commonName Pro301Ser
ADM_184 alias BN000503.1:c.1906C>T
ADM_184 protEffect CAG26750.1:p.P636S
ADM_184 disease phenotype-associated
ADM_184 phenoCommon Frontotemporal Dementia
ADM_184 comment Point mutation in coding region predicting an amino acid substitution
ADM_185 commonName Ser305Ser
ADM_185 alias BN000503.1:c.1920T>C
ADM_185 protEffect CAG26750.1:p.S640S
ADM_185 disease phenotype-associated
ADM_185 phenoCommon Frontotemporal Dementia / Progressive Supranuclear Palsy
ADM_185 comment Silent point mutation in coding region affecting alternative splicing of exon 10
ADM_186 commonName Ser305Asn
ADM_186 alias BN000503.1:c.1919G>A
ADM_186 protEffect CAG26750.1:p.S640N
ADM_186 disease phenotype-associated
ADM_186 phenoCommon Frontotemporal Dementia
ADM_186 comment Point mutation in coding region predicting an amino acid substitution
ADM_187 commonName Leu315Arg
ADM_187 alias BN000503.1:c.1949T>G
ADM_187 protEffect CAG26750.1:p.L650R
ADM_187 disease phenotype-associated
ADM_187 phenoCommon Frontotemporal Dementia
ADM_187 comment Point mutation in coding region predicting an amino acid substitution
ADM_188 commonName Ser320Phe
ADM_188 alias BN000503.1:c.1964C>T
ADM_188 protEffect CAG26750.1:p.S655F
ADM_188 disease phenotype-associated
ADM_188 phenoCommon Frontotemporal Dementia
ADM_188 comment Point mutation in coding region predicting an amino acid substitution
ADM_189 commonName Val337Met
ADM_189 alias BN000503.1:c.2014G>A
ADM_189 protEffect CAG26750.1:p.V672M
ADM_189 disease phenotype-associated
ADM_189 phenoCommon Frontotemporal Dementia
ADM_189 comment Point mutation in coding region predicting an amino acid substitution
ADM_190 commonName Glu342Val
ADM_190 alias BN000503.1:c.2030A>T
ADM_190 protEffect CAG26750.1:p.E677V
ADM_190 disease phenotype-associated
ADM_190 phenoCommon Frontotemporal Dementia
ADM_190 comment Point mutation in coding region predicting an amino acid substitution
ADM_191 commonName Ser352Leu
ADM_191 alias BN000503.1:c.2060C>T
ADM_191 protEffect CAG26750.1:p.S687L
ADM_191 disease phenotype-associated
ADM_191 phenoCommon Respiratory Failure
ADM_191 comment Point mutation in coding region predicting an amino acid substitution
ADM_192 commonName Lys369Ile
ADM_192 alias BN000503.1:c.2111A>T
ADM_192 protEffect CAG26750.1:p.K704I
ADM_192 disease phenotype-associated
ADM_192 phenoCommon Frontotemporal Dementia
ADM_192 comment Point mutation in coding region predicting an amino acid substitution
ADM_193 commonName Gly389Arg
ADM_193 alias BN000503.1:c.2170G>C
ADM_193 protEffect CAG26750.1:p.G724R
ADM_193 disease phenotype-associated
ADM_193 phenoCommon Frontotemporal Dementia
ADM_193 comment Point mutation in coding region predicting an amino acid substitution
ADM_194 commonName Gly389Arg
ADM_194 alias BN000503.1:c.2170G>A
ADM_194 protEffect CAG26750.1:p.G724R
ADM_194 disease phenotype-associated
ADM_194 phenoCommon Frontotemporal Dementia
ADM_194 comment Point mutation in coding region predicting an amino acid substitution
ADM_195 commonName Arg406Trp
ADM_195 alias BN000503.1:c.2221C>T
ADM_195 protEffect CAG26750.1:p.R741W
ADM_195 disease phenotype-associated
ADM_195 phenoCommon Frontotemporal Dementia / Alzheimer Disease
ADM_195 comment Point mutation in coding region predicting an amino acid substitution
ADM_196 commonName Pro301Leu
ADM_196 alias BN000503.1:c.1907C>T
ADM_196 protEffect CAG26750.1:p.P636L
ADM_196 disease phenotype-associated
ADM_196 phenoCommon Frontotemporal Dementia
ADM_196 comment Point mutation in coding region predicting an amino acid substitution
ADM_197 commonName IVS10+3G>A
ADM_197 disease phenotype-associated
ADM_197 phenoCommon Frontotemporal Dementia
ADM_197 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_198 commonName IVS10+11T>C
ADM_198 disease phenotype-associated
ADM_198 phenoCommon Frontotemporal Dementia
VAR_000005 disease not phenotype-associated
ADM_198 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_199 commonName IVS10+12C>T
ADM_199 disease phenotype-associated
ADM_199 phenoCommon Frontotemporal Dementia
ADM_199 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_200 commonName IVS10+13A>G
ADM_200 disease phenotype-associated
ADM_200 phenoCommon Frontotemporal Dementia
ADM_200 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_201 commonName IVS10+14C>T
ADM_201 disease phenotype-associated
ADM_201 phenoCommon Frontotemporal Dementia
ADM_201 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_202 commonName IVS10+16C>T
ADM_202 disease phenotype-associated
ADM_202 phenoCommon Frontotemporal Dementia
ADM_202 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_203 commonName IVS10+19C>G
ADM_203 disease phenotype-associated
ADM_203 phenoCommon Frontotemporal Dementia
ADM_203 comment Point mutation in intronic region affecting alternative splicing of exon 10
ADM_204 commonName IVS10+29G>A
ADM_204 disease not phenotype-associated
ADM_204 phenoCommon Frontotemporal Dementia
ADM_204 comment Point mutation in intronic region predicted not to affect alternative splicing of exon 10
ADM_205 commonName Gln336Arg
ADM_205 alias BN000503.1:c.2012A>G
ADM_205 protEffect CAG26750.1:p.Q671R
ADM_205 disease phenotype-associated
ADM_205 phenoCommon Frontotemporal Dementia
ADM_205 comment Point mutation in coding region predicting an amino acid substitution
ADM_206 commonName Tyr18Tyr
ADM_206 alias BN000503.1:c.54C>T
ADM_206 protEffect CAG26750.1:p.Y18Y
ADM_206 disease not phenotype-associated
ADM_206 phenoCommon No Phenotype
ADM_206 comment Silent point mutation in coding region
ADM_207 commonName Thr39Thr
ADM_207 alias BN000503.1:c.117G>A
ADM_207 protEffect CAG26750.1:p.T39T
ADM_207 disease not phenotype-associated
ADM_207 phenoCommon No Phenotype
ADM_207 comment Silent point mutation in coding region
ADM_208 commonName Pro202Leu
ADM_208 alias BN000503.1:c.605C>T
ADM_208 protEffect CAG26750.1:p.P202L
ADM_208 disease not phenotype-associated
ADM_208 phenoCommon No Phenotype
ADM_208 comment Point mutation in coding region predicting an amino acid substitution
ADM_209 commonName Gln230Arg
ADM_209 alias BN000503.1:c.689A>G
ADM_209 protEffect CAG26750.1:p.Q230R
ADM_209 disease not phenotype-associated
ADM_209 phenoCommon No Phenotype
ADM_209 comment Point mutation in coding region predicting an amino acid substitution
ADM_210 commonName Asp285Asn
ADM_210 alias BN000503.1:c.853G>A
ADM_210 protEffect CAG26750.1:p.D285N
ADM_210 disease not phenotype-associated
ADM_210 phenoCommon No Phenotype
ADM_210 comment Point mutation in coding region predicting an amino acid substitution
ADM_211 commonName Asp285Asp
ADM_211 alias BN000503.1:c.855C>T
ADM_211 protEffect CAG26750.1:p.D285D
ADM_211 disease not phenotype-associated
ADM_211 phenoCommon No Phenotype
ADM_211 comment Silent point mutation in coding region
ADM_212 commonName Val289Ala
ADM_212 alias BN000503.1:c.866T>C
ADM_212 protEffect CAG26750.1:p.V289A
ADM_212 disease not phenotype-associated
ADM_212 phenoCommon No Phenotype
ADM_212 comment Point mutation in coding region predicting an amino acid substitution
ADM_213 commonName Arg370Trp
ADM_213 alias BN000503.1:c.1108C>T
ADM_213 protEffect CAG26750.1:p.R369W
ADM_213 disease not phenotype-associated
ADM_213 phenoCommon No Phenotype
ADM_213 comment Point mutation in coding region predicting an amino acid substitution
ADM_214 commonName EX6 His47Tyr
ADM_214 alias BN000503.1:c.1321C>T
ADM_214 protEffect CAG26750.1:p.H441Y
ADM_214 disease not phenotype-associated
ADM_214 phenoCommon No Phenotype
ADM_214 comment Point mutation in coding region predicting an amino acid substitution
ADM_215 commonName EX6 Ser53Pro
ADM_215 alias BN000503.1:c.1339T>C
ADM_215 protEffect CAG26750.1:p.S447P
ADM_215 disease not phenotype-associated
ADM_215 phenoCommon No Phenotype
ADM_215 comment Point mutation in coding region predicting an amino acid substitution
ADM_216 commonName Pro176Pro
ADM_216 alias BN000503.1:c.1479G>A
ADM_216 protEffect CAG26750.1:p.P176P
ADM_216 disease not phenotype-associated
ADM_216 phenoCommon No Phenotype
ADM_216 comment Silent point mutation in coding region
ADM_217 commonName Ala178Thr
ADM_217 alias BN000503.1:c.1483G>A
ADM_217 protEffect CAG26750.1:p.A178T
ADM_217 disease not phenotype-associated
ADM_217 phenoCommon No Phenotype
ADM_217 comment Point mutation in coding region predicting an amino acid substitution
ADM_218 commonName EX8 Thr2Thr
ADM_218 alias BN000503.1:c.1512CT>C
ADM_218 protEffect CAG26750.1:p.T504T
ADM_218 disease not phenotype-associated
ADM_218 phenoCommon No Phenotype
ADM_218 comment Silent point mutation in coding region
ADM_219 commonName Ala227Ala
ADM_219 alias BN000503.1:c.1686A>G
ADM_219 protEffect CAG26750.1:p.A227A
ADM_219 disease not phenotype-associated
ADM_219 phenoCommon No Phenotype
ADM_219 comment Silent point mutation in coding region
ADM_221 commonName Asn255Asn
ADM_221 alias BN000503.1:c.1770T>C
ADM_221 protEffect CAG26750.1:p.N255N
ADM_221 disease not phenotype-associated
ADM_221 phenoCommon No Phenotype
ADM_221 comment Silent point mutation in coding region
ADM_222 commonName Pro270Pro
ADM_222 alias BN000503.1:c.1815G>A
ADM_222 protEffect CAG26750.1:p.P270P
ADM_222 disease not phenotype-associated
ADM_222 phenoCommon No Phenotype
ADM_222 comment Silent point mutation in coding region
ADM_223 commonName Pro301Pro
ADM_223 alias BN000503.1:c.1908G>A
ADM_223 protEffect CAG26750.1:p.P301P
ADM_223 disease not phenotype-associated
ADM_223 phenoCommon No Phenotype
ADM_223 comment Silent point mutation in coding region
ADM_224 commonName Gly183Val
ADM_224 alias NM_000021.2:c.548G>T
ADM_224 protEffect NP_000012.1:p.G183V
ADM_224 disease phenotype-associated
ADM_224 phenoCommon Pick Disease
ADM_224 comment Point mutation in coding region predicting an amino acid substitution
ADM_225 commonName Pro117Arg
ADM_225 alias NM_000021.2:c.350C>G
ADM_225 protEffect NP_000012.1:p.P117L
ADM_225 disease phenotype-associated
ADM_225 phenoCommon Alzheimer Disease / Myoclonus
ADM_225 comment Point mutation in coding region predicting an amino acid substitution
ADM_226 commonName Ile213Phe
ADM_226 alias NM_000021.2:c.637A>T
ADM_226 protEffect NP_000012.1:p.I213F
ADM_226 disease phenotype-associated
ADM_226 phenoCommon Alzheimer Disease
ADM_226 comment Point mutation in coding region predicting an amino acid substitution
ADM_227 commonName Gln228Leu
ADM_227 alias NM_000447.1:c.683A>T
ADM_227 protEffect NP_000438.1:p.Q228L
ADM_227 disease phenotype-associated
ADM_227 phenoCommon Alzheimer Disease
ADM_227 comment Point mutation in coding region predicting an amino acid substitution
ADM_228 commonName Leu226Arg
ADM_228 alias NM_000021.2:c.677T>G
ADM_228 protEffect NP_000012.1:p.L226R
ADM_228 disease phenotype-associated
ADM_228 phenoCommon Alzheimer Disease
ADM_228 comment Point mutation in coding region predicting an amino acid substitution
ADM_229 commonName Thr116Ile
ADM_229 alias NM_000021.2:c.347C>T
ADM_229 protEffect NP_000012.1:p.T116I
ADM_229 disease phenotype-associated
ADM_229 phenoCommon Alzheimer Disease
ADM_229 comment Point mutation in coding region predicting an amino acid substitution
ADM_230 commonName Tyr115Asp
ADM_230 alias NM_000021.2:c.343T>C
ADM_230 protEffect NP_000012.1:p.Y115D
ADM_230 disease phenotype-associated
ADM_230 phenoCommon Alzheimer Disease
ADM_230 comment Point mutation in coding region predicting an amino acid substitution
ADM_231 commonName Lys317Met
ADM_231 alias BN000503.1:c.1955A>T
ADM_231 protEffect CAG26750.1:p.K652M
ADM_231 disease phenotype-associated
ADM_231 phenoCommon Frontotemporal Dementia / Parkinsonism / Motor Neuron Disease
ADM_231 comment Point mutation in coding region predicting an amino acid substitution
ADM_232 commonName Thr427Met
ADM_232 alias BN000503.1:c.2285C>T
ADM_232 protEffect CAG26750.1:p.T762M
ADM_232 disease phenotype-associated
ADM_232 phenoCommon Frontotemporal Dementia
ADM_232 comment Point mutation in coding region predicting an amino acid substitution
ADM_233 commonName Gly86Ser
ADM_233 alias BN000503.1:c.256G>A
ADM_233 protEffect CAG26750.1:p.G86S
ADM_233 disease not phenotype-associated
ADM_233 phenoCommon Frontotemporal Dementia
ADM_233 comment Point mutation in coding region predicting an amino acid substitution
ADM_234 commonName Tyr154Asn
ADM_234 alias NM_000021.2:c.460T>A
ADM_234 protEffect NP_000012.1:p.Y154N
ADM_234 disease phenotype-associated
ADM_234 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_234 comment Point mutation in coding region predicting an amino acid substitution
ADM_235 commonName His677Arg
ADM_235 alias NM_000484.2:c.2030A>G
ADM_235 protEffect NP_000475.1:p.H677R
ADM_235 disease not phenotype-associated
ADM_235 phenoCommon No Phenotype
ADM_235 comment Point mutation in coding region predicting an amino acid substitution
ADM_236 commonName "Asp678Asn, Tottori APP"
ADM_236 alias NM_000484.2:c.2032G>A
ADM_236 protEffect NP_000475.1:p.D678N
ADM_236 disease phenotype-associated
ADM_236 phenoCommon Alzheimer Disease
ADM_236 comment Point mutation in coding region predicting an amino acid substitution
ADM_237 commonName Arg278Ile
ADM_237 alias NM_000021.2:c.833G>T
ADM_237 protEffect NP_000012.1:p.R278I
ADM_237 disease phenotype-associated
ADM_237 phenoCommon Progressive Nonfluent Aphasia / Language Impairment
ADM_237 comment Point mutation in coding region predicting an amino acid substitution
ADM_238 commonName Ala713Thr
ADM_238 alias NM_000484.2:c.2137G>A
ADM_238 protEffect NP_000475.1:p.A713T
ADM_238 disease phenotype-associated
ADM_238 phenoCommon Alzheimer Disease / CAA
ADM_238 comment Point mutation in coding region predicting an amino acid substitution
ADM_239 commonName Leu85Pro
ADM_239 alias NM_000021.2:c.254T>C
ADM_239 protEffect NP_000012.1:p.L85P
ADM_239 disease phenotype-associated
ADM_239 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_239 comment Point mutation in coding region predicting an amino acid substitution
ADM_240 commonName Leu315Leu
ADM_240 alias BN000503.1:c.1950G>A
ADM_240 protEffect CAG26750.1:p.L315L
ADM_240 disease phenotype-associated
ADM_240 phenoCommon Frontotemporal dementia
ADM_240 comment Silent point mutation in coding region
ADM_241 commonName Leu113Gln
ADM_241 alias NM_000021.2:c.338T>A
ADM_241 protEffect NP_000012.1:p.L113Q
ADM_241 disease phenotype-associated
ADM_241 phenoCommon Alzheimer Disease / Myoclonus
ADM_241 comment Point mutation in coding region predicting an amino acid substitution
ADM_242 commonName Asn135Ser
ADM_242 alias NM_000021.2:c.404A>G
ADM_242 protEffect NP_000012.1:p.N135S
ADM_242 disease phenotype-associated
ADM_242 phenoCommon Alzheimer Disease / Epilepsy
ADM_242 comment Point mutation in coding region predicting an amino acid substitution
ADM_243 commonName Gly335Val
ADM_243 alias BN000503.1:c.2009G>T
ADM_243 protEffect CAG26750.1:p.G670V
ADM_243 disease phenotype-associated
ADM_243 phenoCommon Frontotemporal Dementia
ADM_243 comment Point mutation in coding region predicting an amino acid substitution
ADM_244 commonName Gly303Val
ADM_244 alias BN000503.1:c.1913G>T
ADM_244 protEffect CAG26750.1:p.G303V
ADM_244 disease phenotype-associated
ADM_244 phenoCommon Progressive Supranuclear Palsy
ADM_244 comment Point mutation in coding region predicting an amino acid substitution
ADM_245 commonName Gln424Lys
ADM_245 alias BN000503.1:c.2275C>A
ADM_245 protEffect CAG26750.1:p.Q424K
ADM_245 disease phenotype-associated
ADM_245 phenoCommon Parkinson Disease
ADM_245 comment Point mutation in coding region predicting an amino acid substitution
ADM_246 commonName Glu693Lys; Italian APP
ADM_246 alias NM_000484.2:c.2020G>A
ADM_246 protEffect NP_000475.1:p.E693K
ADM_246 disease phenotype-associated
ADM_246 phenoCommon CAA
ADM_246 comment Point mutation in coding region predicting an amino acid substitution
ADM_247 commonName Leu705Val
ADM_247 alias NM_000484.2:c.2113C>G
ADM_247 protEffect NP_000475.1:p.L705V
ADM_247 disease phenotype-associated
ADM_247 phenoCommon CAA
ADM_247 comment Point mutation in coding region predicting an amino acid substitution
ADM_248 commonName Leu166His
ADM_248 alias NM_000021.2:c.497T>A
ADM_248 protEffect NP_000012.1:p.L166H
ADM_248 disease phenotype-associated
ADM_248 phenoCommon Alzheimer Disease
ADM_248 comment Point mutation in coding region predicting an amino acid substitution
ADM_249 commonName Ser170Phe
ADM_249 alias NM_000021.2:c.509C>T
ADM_249 protEffect NP_000012.1:p.S170F
ADM_249 disease phenotype-associated
ADM_249 phenoCommon Alzheimer Disease With Lewy Bodies
ADM_249 comment Point mutation in coding region predicting an amino acid substitution
ADM_250 commonName ΔT440
ADM_250 alias NM_000021.2:c.1318_1320delACC
ADM_250 protEffect NP_000012.1:p.T440del
ADM_250 disease phenotype-associated
ADM_250 phenoCommon Alzheimer Disease With Lewy Bodies
ADM_250 comment Trinucleotide deletion predicted to result in deletion of 1 amino acid
ADM_251 commonName Leu174Arg
ADM_251 alias NM_000021.2:c.521T>G
ADM_251 protEffect NP_000012.1:p.L174R
ADM_251 disease phenotype-associated
ADM_251 phenoCommon Alzheimer Disease
ADM_251 comment Point mutation in coding region predicting an amino acid substitution
ADM_252 commonName Leu381Val
ADM_252 alias NM_000021.2:c.1141C>G
ADM_252 protEffect NP_000012.1:p.L381V
ADM_252 disease phenotype-associated
ADM_252 phenoCommon Alzheimer Disease
ADM_252 comment Point mutation in coding region predicting an amino acid substitution
ADM_253 commonName Phe105Ile
ADM_253 alias NM_000021.2:c.313T>A
ADM_253 protEffect NP_000012.1:p.F105I
ADM_253 disease phenotype-associated
ADM_253 phenoCommon Alzheimer Disease
ADM_253 comment Point mutation in coding region predicting an amino acid substitution
ADM_254 commonName Ile143Asn
ADM_254 alias NM_000021.2:c.428T>A
ADM_254 protEffect NP_000012.1:p.I143N
ADM_254 disease phenotype-associated
ADM_254 phenoCommon Alzheimer Disease
ADM_254 comment Point mutation in coding region predicting an amino acid substitution
ADM_255 commonName Gly206Asp
ADM_255 alias NM_000021.2:c.617G>A
ADM_255 protEffect NP_000012.1:p.G206D
ADM_255 disease phenotype-associated
ADM_255 phenoCommon Alzheimer Disease
ADM_255 comment Point mutation in coding region predicting an amino acid substitution
ADM_256 commonName His214Tyr
ADM_256 alias NM_000021.2:c.640C>T
ADM_256 protEffect NP_000012.1:p.H214Y
ADM_256 disease phenotype-associated
ADM_256 phenoCommon Alzheimer Disease
ADM_256 comment Point mutation in coding region predicting an amino acid substitution
ADM_257 commonName Phe386Ser
ADM_257 alias NM_000021.2:c.1157T>C
ADM_257 protEffect NP_000012.1:p.F386S
ADM_257 disease phenotype-associated
ADM_257 phenoCommon Alzheimer Disease
ADM_257 comment Point mutation in coding region predicting an amino acid substitution
ADM_258 commonName Val391Phe
ADM_258 alias NM_000021.2:c.1171G>T
ADM_258 protEffect NP_000012.1:p.V391F
ADM_258 disease phenotype-associated
ADM_258 phenoCommon Alzheimer Disease
ADM_258 comment Point mutation in coding region predicting an amino acid substitution
ADM_259 commonName Leu424His
ADM_259 alias NM_000021.2:c.1271T>A
ADM_259 protEffect NP_000012.1:p.L424H
ADM_259 disease phenotype-associated
ADM_259 phenoCommon Alzheimer Disease
ADM_259 comment Point mutation in coding region predicting an amino acid substitution
ADM_265 commonName Gln125X
ADM_265 alias NM_002087.2:c.0
ADM_265 protEffect NP_002078.1:p.0
ADM_265 disease phenotype-associated
ADM_265 phenoCommon Frontotemporal Dementia
ADM_265 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay
ADM_266 commonName IVS1+5G>C
ADM_266 alias NM_002087.2:c.0
ADM_266 protEffect NP_002078.1:p.0
ADM_266 disease phenotype-associated
ADM_266 phenoCommon Frontotemporal Dementia
ADM_266 comment Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation
ADM_267 commonName Met1
ADM_267 alias NM_002087.2:c.3G>A
ADM_267 protEffect NP_002078.1:p.M1?
ADM_267 disease phenotype-associated
ADM_267 phenoCommon Frontotemporal Dementia
ADM_267 comment Point mutation in translation initiation codon predicting failed translation
ADM_268 commonName Pro127fs
ADM_268 alias NM_002087.2:c.380_381delCT
ADM_268 protEffect NP_002078.1:p.P127RfsX2
ADM_268 disease phenotype-associated
ADM_268 phenoCommon Frontotemporal Dementia
ADM_268 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_269 commonName Ala237fs
ADM_269 alias NM_002087.2:c.709_835del
ADM_269 protEffect NP_002078.1:p.A237WfsX4
ADM_269 disease phenotype-associated
ADM_269 phenoCommon Frontotemporal Dementia
ADM_269 comment "Tetranucleotide insertion in intron 8 splice donor site predicted to cause exon 8 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_270 commonName Met1
ADM_270 alias NM_002087.2:c.0
ADM_270 protEffect NP_002078.1:p.0
ADM_270 disease phenotype-associated
ADM_270 phenoCommon Frontotemporal Dementia
ADM_270 comment Point mutation in translation initiation codon resulting in reduced mRNA levels
ADM_271 commonName Cys31fs
ADM_271 alias NM_002087.2:c.0
ADM_271 protEffect NP_002078.1:p.0
ADM_271 disease phenotype-associated
ADM_271 phenoCommon Frontotemporal Dementia
ADM_271 comment "Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_272 commonName Gln130fs
ADM_272 alias NM_002087.2:c.388_391delCAGT
ADM_272 protEffect NP_002078.1:p.Q130SfsX125
ADM_272 disease phenotype-associated
ADM_272 phenoCommon Frontotemporal Dementia
ADM_272 comment "Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_273 commonName Val279fs
ADM_273 alias NM_002087.2:c.836_933del
ADM_273 protEffect NP_002078.1:p.V279GfsX5
ADM_273 disease phenotype-associated
ADM_273 phenoCommon Frontotemporal Dementia
ADM_273 comment "Point mutation in intron 9 splice donor site predicted to cause exon 9 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_274 commonName Thr382fs
ADM_274 alias NM_002087.2:c.1145delC
ADM_274 protEffect NP_002078.1:p.T382SfsX30
ADM_274 disease phenotype-associated
ADM_274 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome
ADM_274 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_275 commonName Trp386X
ADM_275 alias NM_002087.2:c.1157G>A
ADM_275 protEffect NP_002078.1:p.W386X
ADM_275 disease phenotype-associated
ADM_275 phenoCommon Frontotemporal Dementia
ADM_275 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay
ADM_276 commonName Arg418X
ADM_276 alias NM_002087.2:c.0
ADM_276 protEffect NP_002078.1:p.0
ADM_276 disease phenotype-associated
ADM_276 phenoCommon Frontotemporal Dementia
ADM_276 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay
ADM_277 commonName Gln468X
ADM_277 alias NM_002087.2:c.1402C>T
ADM_277 protEffect NP_002078.1:p.Q468X
ADM_277 disease phenotype-associated
ADM_277 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_277 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay
ADM_278 commonName Thr245Pro
ADM_278 alias NM_000021.2:c.733A>C
ADM_278 protEffect NP_000012.1:p.T245P
ADM_278 disease phenotype-associated
ADM_278 phenoCommon Alzheimer Disease
ADM_278 comment Point mutation in coding region predicting an amino acid substitution
ADM_279 commonName Val97Leu
ADM_279 alias NM_000021.2:c.289G>T
ADM_279 protEffect NP_000012.1:p.V97L
ADM_279 disease phenotype-associated
ADM_279 phenoCommon Alzheimer Disease
ADM_279 comment Point mutation in coding region predicting an amino acid substitution
ADM_280 commonName Lys724Asn; Belgian APP
ADM_280 alias NM_000484.2:c.2172G>C
ADM_280 protEffect NP_000475.1:p.K724N
ADM_280 disease phenotype-associated
ADM_280 phenoCommon Alzheimer Disease
ADM_280 comment Point mutation in coding region predicting an amino acid substitution
ADM_281 commonName Ala9Asp
ADM_281 alias NM_002087.2:c.0
ADM_281 protEffect NP_002078.1:p.A9D
ADM_281 disease phenotype-associated
ADM_281 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_281 comment Point mutation in coding region predicting an amino acid substitution
ADM_282 commonName Asp22fs
ADM_282 alias NM_002087.2:c.63_64insC
ADM_282 protEffect NP_002078.1:p.D22RfsX43
ADM_282 disease phenotype-associated
ADM_282 phenoCommon Frontotemporal Dementia
ADM_282 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_283 commonName Gly35fs
ADM_283 alias NM_002087.2:c.102delC
ADM_283 protEffect NP_002078.1:p.G35EfsX19
ADM_283 disease phenotype-associated
ADM_283 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_283 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_284 commonName IVS2+1G>A
ADM_284 alias NM_002087.2:c.-7_138del
ADM_284 protEffect NP_002078.1:p.0?
ADM_284 disease phenotype-associated
ADM_284 phenoCommon Frontotemporal Dementia
ADM_284 comment "Point mutation in intron 2 splice donor site predicted to cause exon 2 skipping, deletion of Kozak sequence and failed translation initiation"
ADM_286 commonName Thr52fs
ADM_286 alias NM_002087.2:c.154delA
ADM_286 protEffect NP_002078.1:p.T52HfsX2
ADM_286 disease phenotype-associated
ADM_286 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_286 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_287 commonName Gly79fs
ADM_287 alias NM_002087.2:c.234_235delAG
ADM_287 protEffect NP_002078.1:p.G79DfsX39
ADM_287 disease phenotype-associated
ADM_287 phenoCommon Frontotemporal Dementia
ADM_287 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_288 commonName Ala155fs
ADM_288 alias NM_002087.2:c.0
ADM_288 protEffect NP_002078.1:p.A155WfsX56
ADM_288 disease phenotype-associated
ADM_288 phenoCommon Frontotemporal Dementia
ADM_288 comment "Point mutation in intron 5 splice acceptor site predicted to cause exon 6 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_289 commonName Ser226fs
ADM_289 alias NM_002087.2:c.675_676delCA
ADM_289 protEffect NP_002078.1:p.S226WfsX28
ADM_289 disease phenotype-associated
ADM_289 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_289 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_290 commonName Val200fs
ADM_290 alias NM_002087.2:c.599_708del
ADM_290 protEffect NP_002078.1:p.V200GfsX18
ADM_290 disease phenotype-associated
ADM_290 phenoCommon Frontotemporal Dementia
ADM_290 comment "Point mutation in intron 7 splice donor site predicted to cause exon 7 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_291 commonName Cys253X
ADM_291 alias NM_002087.2:c.759_760delTG
ADM_291 protEffect NP_002078.1:p.C253X
ADM_291 disease phenotype-associated
ADM_291 phenoCommon Frontotemporal Dementia
ADM_291 comment "Dinucleotide deletion in coding region creating a premature termination codon, predicted to result in nonsense-mediated mRNA decay"
ADM_292 commonName Val279fs;IVS8-1G>C
ADM_292 alias NM_002087.2:c.836_933del
ADM_292 protEffect NP_002078.1:p.V279GfsX5
ADM_292 disease phenotype-associated
ADM_292 phenoCommon Corticobasal Syndrome
ADM_292 comment "Point mutation in intron 8 splice acceptor site predicted to cause exon 9 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_293 commonName Trp304fs
ADM_293 alias NM_002087.2:c.910_911insTG
ADM_293 protEffect NP_002078.1:p.W304LfsX58
ADM_293 disease phenotype-associated
ADM_293 phenoCommon Frontotemporal Dementia
ADM_293 comment "Dinucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_294 commonName Trp304X
ADM_294 alias NM_002087.2:c.911G>A
ADM_294 protEffect NP_002078.1:p.W304X
ADM_294 disease phenotype-associated
ADM_294 phenoCommon Frontotemporal Dementia
ADM_294 comment "Point mutation in coding region creating a premature termination codon, predicted to result in nonsense-mediated mRNA decay"
ADM_295 commonName Gly333fs
ADM_295 alias NM_002087.2:c.998delG
ADM_295 protEffect NP_002078.1:p.G333VfsX28
ADM_295 disease phenotype-associated
ADM_295 phenoCommon Primary Progressive Aphasia
ADM_295 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_296 commonName Cys466fs
ADM_296 alias NM_002087.2:c.1395_1396insC
ADM_296 protEffect NP_002078.1:p.C466LfsX46
ADM_296 disease phenotype-associated
ADM_296 phenoCommon Frontotemporal Dementia
ADM_296 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_297 commonName Arg493X
ADM_297 alias NM_002087.2:c.1477C>T
ADM_297 protEffect NP_002078.1:p.R493X
ADM_297 disease phenotype-associated
ADM_297 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_297 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay
ADM_298 commonName Arg19Trp
ADM_298 alias NM_002087.2:c.55C>T
ADM_298 protEffect NP_002078.1:p.R19W
ADM_298 disease not phenotype-associated
ADM_298 comment Point mutation in coding region predicting an amino acid substitution
ADM_299 commonName Asp33
ADM_299 alias NM_002087.2:c.99C>T
ADM_299 protEffect NP_002078.1:p.D33
ADM_299 disease not phenotype-associated
ADM_299 phenoCommon No Phenotype
ADM_299 comment Silent point mutation in coding region
ADM_300 commonName Glu88
ADM_300 alias NM_002087.2:c.264G>A
ADM_300 protEffect NP_002078.1:p.E88
ADM_300 comment Silent point mutation in coding region
ADM_301 commonName Cys105Arg
ADM_301 alias NM_002087.2:c.313T>C
ADM_301 protEffect NP_002078.1:p.C105R
ADM_301 comment Point mutation in coding region predicting an amino acid substitution
ADM_302 commonName Asp128
ADM_302 alias NM_002087.2:c.384T>C
ADM_302 protEffect NP_002078.1:p.D128
ADM_302 disease not phenotype-associated
ADM_302 phenoCommon No Phenotype
ADM_302 comment Silent point mutation in coding region
ADM_303 commonName Asn236
ADM_303 alias NM_002087.2:c.708C>T
ADM_303 protEffect NP_002078.1:p.N236
ADM_303 comment Silent point mutation in coding region
ADM_304 commonName Glu287Asp
ADM_304 alias NM_002087.2:c.861G>C
ADM_304 protEffect NP_002078.1:p.E287D
ADM_304 comment Point mutation in coding region predicting an amino acid substitution
ADM_305 commonName Ser301
ADM_305 alias NM_002087.2:c.903G>A
ADM_305 protEffect NP_002078.1:p.S301
ADM_305 disease not phenotype-associated
ADM_305 comment Silent point mutation in coding region
ADM_306 commonName Ala324Thr
ADM_306 alias NM_002087.2:c.970G>A
ADM_306 protEffect NP_002078.1:p.A324T
ADM_306 disease not phenotype-associated
ADM_306 comment Point mutation in coding region predicting an amino acid substitution
ADM_307 commonName Arg418Gln
ADM_307 alias NM_002087.2:c.1253G>A
ADM_307 protEffect NP_002078.1:p.R418Q
ADM_307 disease not phenotype-associated
ADM_307 comment Point mutation in coding region predicting an amino acid substitution
ADM_308 commonName Arg433Trp
ADM_308 alias NM_002087.2:c.1297C>T
ADM_308 protEffect NP_002078.1:p.R433W
ADM_308 disease not phenotype-associated
ADM_308 comment Point mutation in coding region predicting an amino acid substitution
ADM_309 commonName Cys474
ADM_309 alias NM_002087.2:c.1422C>T
ADM_309 protEffect NP_002078.1:p.C474
ADM_309 comment Silent point mutation in coding region
ADM_310 commonName Gly515Ala
ADM_310 alias NM_002087.2:c.1544G>C
ADM_310 protEffect NP_002078.1:p.G515A
ADM_310 comment Point mutation in coding region predicting an amino acid substitution
ADM_312 commonName 869-22_869-23ins18
ADM_312 alias NM_000021.2:c.869_955del
ADM_312 protEffect NP_000012.1:p.[S290C;T291_S319del]
ADM_312 disease phenotype-associated
ADM_312 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_312 comment "Insertion of 18 nucleotides (TGGAATTTTGTGCTGTTG) in intron 8, between nt 23 and 22 upstream of exon 9, resulting in exon 9 skipping"
ADM_313 commonName Thr291Pro
ADM_313 alias NM_000021.2:c.871A>C; c.869_955del
ADM_313 protEffect NP_000012.1:p.T291P;p.[S290C;T291_S319del]
ADM_313 disease phenotype-associated
ADM_313 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_313 comment "Point mutation in coding region creating a missense mutation and affecting exon 9 splicing, leading to exon 9 skipping in 5% of transcripts"
ADM_314 commonName Val200fs; IVS7+1G>A
ADM_314 alias NM_002087.2:c.0
ADM_314 protEffect NP_002078.1:p.V200GfsX18
ADM_314 disease phenotype-associated
ADM_314 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome
ADM_314 comment "Point mutation in intron 7 splice donor site predicted to cause exon 7 skipping, frameshift and premature translation termination, and demonstrated to result in transcript degradation"
ADM_315 commonName IVS11-15_EX12+177del; Δ12
ADM_315 alias NM_002087.2:c.1414_1644del
ADM_315 protEffect NP_002078.1:p.A472_Q548del
ADM_315 disease phenotype-associated
ADM_315 phenoCommon Frontotemporal Dementia
ADM_315 comment "Deletion of 193 bp starting 15 bp upstream of exon 12 and extending 177 bp into exon 12, destroying the intron 11 splice acceptor site and predicted to result in in-frame exon 12 skipping"
ADM_316 commonName Ala239Thr
ADM_316 alias BN000503.1:c.1720G>A
ADM_316 protEffect CAG26750.1:p.A239T
ADM_316 disease not phenotype-associated
ADM_316 phenoCommon No Phenotype
ADM_316 comment Point mutation in coding region predicting an amino acid substitution
ADM_317 commonName IVS10+25C>T
ADM_317 disease not phenotype-associated
ADM_317 phenoCommon No Phenotype
ADM_317 comment Point mutation in intronic region predicted not to affect alternative splicing of exon 10
ADM_318 commonName Thr272fs
ADM_318 alias NM_002087.2:c.813_816delCACT
ADM_318 protEffect NP_002078.1:p.T272SfsX10
ADM_318 disease phenotype-associated
ADM_318 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome
ADM_318 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_319 commonName Thr122Arg
ADM_319 alias NM_000447.1:c.365C>G
ADM_319 protEffect NP_000438.1:p.T122R
ADM_319 disease phenotype-associated
ADM_319 phenoCommon Alzheimer Disease
ADM_319 comment Point mutation in coding region predicting an amino acid substitution
ADM_320 commonName Pro284Ser
ADM_320 alias NM_000021.2:c.850C>T
ADM_320 protEffect NP_000012.1:p.P284S
ADM_320 disease phenotype-associated
ADM_320 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_320 comment Point mutation in coding region predicting an amino acid substitution
ADM_321 commonName Met233Ile
ADM_321 alias NM_000021.2:c.699G>C
ADM_321 protEffect NP_000012.1:p.M233I
ADM_321 disease phenotype-associated
ADM_321 phenoCommon Alzheimer Disease
ADM_321 comment Point mutation in coding region predicting an amino acid substitution
ADM_322 commonName Gly335Ser
ADM_322 alias BN000503.1:c.2008G>A
ADM_322 protEffect CAG26750.1:p.G670S
ADM_322 disease phenotype-associated
ADM_322 phenoCommon Frontotemporal Dementia
ADM_322 comment Point mutation in coding region predicting an amino acid substitution
ADM_323 commonName Ser82fs
ADM_323 alias NM_002087.2:c.243delC
ADM_323 protEffect NP_002078.1:p.S82VfsX174
ADM_323 disease phenotype-associated
ADM_323 phenoCommon Frontotemporal Dementia
ADM_323 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_324 commonName Gly93
ADM_324 alias NM_002087.2:c.279G>A
ADM_324 protEffect NP_002078.1:p.G93
ADM_324 disease not phenotype-associated
ADM_324 comment Silent point mutation in coding region
ADM_325 commonName Thr182Met
ADM_325 alias NM_002087.2:c.545C>T
ADM_325 protEffect NP_002078.1:p.T182M
ADM_325 comment Point mutation in coding region predicting an amino acid substitution
ADM_326 commonName Pro233Gln
ADM_326 alias NM_002087.2:c.698C>A
ADM_326 protEffect NP_002078.1:p.P233Q
ADM_326 comment Point mutation in coding region predicting an amino acid substitution
ADM_327 commonName Val411fs
ADM_327 alias NM_002087.2:c.1231_1232delGT
ADM_327 protEffect NP_002078.1:p.V411SfsX2
ADM_327 disease phenotype-associated
ADM_327 phenoCommon Frontotemporal Dementia
ADM_327 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_328 commonName Gly414Val
ADM_328 alias NM_002087.2:c.1241G>T
ADM_328 protEffect NP_002078.1:p.G414V
ADM_328 disease not phenotype-associated
ADM_328 phenoCommon No Phenotype
ADM_328 comment Point mutation in coding region predicting an amino acid substitution
ADM_329 commonName His447
ADM_329 alias NM_002087.2:c.1341C>T
ADM_329 protEffect NP_002078.1:p.H447
ADM_329 comment Silent point mutation in coding region
ADM_330 commonName Trp541Cys
ADM_330 alias NM_002087.2:c.1623G>C
ADM_330 protEffect NP_002078.1:p.W541C
ADM_330 comment Point mutation in coding region predicting an amino acid substitution
ADM_331 commonName Ala237fs
ADM_331 alias NM_002087.2:c.0
ADM_331 protEffect NP_002078.1:p.A237WfsX4
ADM_331 disease phenotype-associated
ADM_331 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia
ADM_331 comment "Point mutation in intron 7 splice acceptor site predicted to cause exon 8 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay"
ADM_332 commonName Leu226Phe
ADM_332 alias NM_000021.2:c.676C>T
ADM_332 protEffect NP_000012.1:p.L226F
ADM_332 disease phenotype-associated
ADM_332 phenoCommon Alzheimer Disease / Frontotemporal Dementia
ADM_332 comment Point mutation in coding region predicting an amino acid substitution
ADM_334 commonName IVS9-10G>T;g(-10)t
ADM_334 disease phenotype-associated
ADM_334 phenoCommon Frontotemporal Dementia
ADM_334 comment Point mutation in intronic region strengthening the polypyrimidine tract and affecting splicing of exon 10
ADM_335 commonName Ser120Tyr
ADM_335 alias NM_002087.2:c.359C>A
ADM_335 protEffect NP_002078.1:p.S120Y
ADM_335 comment Point mutation in coding region predicting an amino acid substitution
ADM_336 commonName Pro392
ADM_336 alias NM_002087.2:c.1176A>C
ADM_336 protEffect NP_002078.1:p.P392
ADM_336 comment Silent point mutation in coding region
ADM_337 commonName Val141Ile
ADM_337 alias NM_002087.2:c.421G>A
ADM_337 protEffect NP_002078.1:p.V141I
ADM_337 disease not phenotype-associated
ADM_337 phenoCommon No Phenotype
ADM_337 comment Point mutation in coding region predicting an amino acid substitution
ADM_338 commonName Pro458Leu
ADM_338 alias NM_002087.2:c.1373C>T
ADM_338 protEffect NP_002078.1:p.P458L
ADM_338 disease not phenotype-associated
ADM_338 phenoCommon No Phenotype
ADM_338 comment Point mutation in coding region predicting an amino acid substitution
ADM_339 commonName Arg556Cys
ADM_339 alias NM_002087.2:c.1666C>T
ADM_339 protEffect NP_002078.1:p.R556C
ADM_339 disease not phenotype-associated
ADM_339 phenoCommon No Phenotype
ADM_339 comment Point mutation in coding region predicting an amino acid substitution
ADM_340 commonName IVS1+3A>T
ADM_340 alias NM_002087.2:c.-8_-7ins3823;c.0
ADM_340 protEffect NP_002078.1:p.0
ADM_340 disease phenotype-associated
ADM_340 phenoCommon Frontotemporal Dementia
ADM_340 comment Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation
ADM_341 commonName Val121fs
ADM_341 alias NM_002087.2:c.361delG
ADM_341 protEffect NP_002078.1:p.V121WfsX135
ADM_341 disease phenotype-associated
ADM_341 phenoCommon Frontotemporal Dementia
ADM_341 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_342 commonName Gln130fs
ADM_342 alias NM_002087.2:c.384_387delTAGT
ADM_342 protEffect NP_002078.1:p.Q130SfsX125
ADM_342 disease phenotype-associated
ADM_342 phenoCommon Frontotemporal Dementia
ADM_342 comment "Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_343 commonName Cys157fs
ADM_343 alias NM_002087.2:c.468_474delCTGCTGT
ADM_343 protEffect NP_002078.1:p.C157KfsX97
ADM_343 disease phenotype-associated
ADM_343 phenoCommon Frontotemporal Dementia
ADM_343 comment "Heptanucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_344 commonName Cys314X
ADM_344 alias NM_002087.2:c.942C>A
ADM_344 protEffect NP_002078.1:p.C413X
ADM_344 disease phenotype-associated
ADM_344 phenoCommon Frontotemporal Dementia
ADM_344 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay
ADM_345 commonName Cys366fs
ADM_345 alias NM_002087.2:c.1095_1096delCT
ADM_345 protEffect NP_002078.1:p.C366fsX1
ADM_345 disease phenotype-associated
ADM_345 phenoCommon Frontotemporal Dementia
ADM_345 comment Dinucleotide deletion in coding region causing frameshift and premature translation termination predicted to result in nonsense-mediated mRNA decay
ADM_346 commonName Gln401X
ADM_346 alias NM_002087.2:c.1201C>T
ADM_346 protEffect NP_002078.1:p.Q401X
ADM_346 disease phenotype-associated
ADM_346 phenoCommon Frontotemporal Dementia
ADM_346 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay
ADM_347 commonName Ala412fs
ADM_347 alias NM_002087.2:c.1232_1233insGT
ADM_347 protEffect NP_002078.1:p.A412fsX1
ADM_347 disease phenotype-associated
ADM_347 phenoCommon Frontotemporal Dementia
ADM_347 comment Dinucleotide insertion in coding region causing frameshift and premature translation termination predicted to result in nonsense-mediated mRNA decay
ADM_348 commonName Pro34
ADM_348 alias NM_002087.2:c.102C>T
ADM_348 protEffect NP_002078.1:p.P34
ADM_348 comment Silent point mutation in coding region
ADM_349 commonName Cys565
ADM_349 alias NM_002087.2:c.1695C>T
ADM_349 protEffect NP_002078.1:p.C565
ADM_349 comment Silent point mutation in coding region
ADM_350 commonName Pro248Leu
ADM_350 alias NM_002087.2:c.743C>T
ADM_350 protEffect NP_002078.1:p.P248L
ADM_350 comment Point mutation in coding region predicting an amino acid substitution
ADM_351 commonName Ser258Asn
ADM_351 alias NM_002087.2:c.773G>A
ADM_351 protEffect NP_002078.1:p.S258N
ADM_351 comment Point mutation in coding region predicting an amino acid substitution
ADM_353 commonName Arg432Cys
ADM_353 alias NM_002087.2:c.1294C>T
ADM_353 protEffect NP_002078.1:p.R432C
ADM_353 comment Point mutation in coding region predicting an amino acid substitution
ADM_354 commonName Trp304fs
ADM_354 alias NM_002087.2:c.0
ADM_354 protEffect NP_002078.1:p.W304GfsX57
ADM_354 disease phenotype-associated
ADM_354 phenoCommon Frontotemporal Dementia
ADM_354 comment Single nucleotide deletion in coding region causing frameshift and premature translation termination resulting in nonsense-mediated mRNA decay
ADM_355 commonName Cys495
ADM_355 alias NM_002087.2:c.1485C>T
ADM_355 protEffect NP_002078.1:p.C495
ADM_355 comment Silent point mutation in coding region
ADM_356 commonName Ser106Asn
ADM_356 alias NM_002087.2:c.317G>A
ADM_356 protEffect NP_002078.1:p.S106N
ADM_356 disease not phenotype-associated
ADM_356 phenoCommon No Phenotype
ADM_356 comment Point mutation in coding region predicting an amino acid substitution
ADM_357 commonName Cys158Tyr
ADM_357 alias NM_002087.2:c.473G>A
ADM_357 protEffect NP_002078.1:p.C158Y
ADM_357 disease not phenotype-associated
ADM_357 phenoCommon No Phenotype
ADM_357 comment Point mutation in coding region predicting an amino acid substitution
ADM_358 commonName Arg212Gln
ADM_358 alias NM_002087.2:c.635G>A
ADM_358 protEffect NP_002078.1:p.R212Q
ADM_358 disease not phenotype-associated
ADM_358 phenoCommon No Phenotype
ADM_358 comment Point mutation in coding region predicting an amino acid substitution
ADM_359 commonName Thr220Ser
ADM_359 alias NM_002087.2:c.658A>T
ADM_359 protEffect NP_002078.1:p.T220S
ADM_359 disease not phenotype-associated
ADM_359 phenoCommon No Phenotype
ADM_359 comment Point mutation in coding region predicting an amino acid substitution
ADM_360 commonName Leu261Ile
ADM_360 alias NM_002087.2:c.781C>A
ADM_360 protEffect NP_002078.1:p.L261I
ADM_360 disease not phenotype-associated
ADM_360 phenoCommon No Phenotype
ADM_360 comment Point mutation in coding region predicting an amino acid substitution
ADM_361 commonName Thr268
ADM_361 alias NM_002087.2:c.804G>A
ADM_361 protEffect NP_002078.1:p.T268
ADM_361 disease not phenotype-associated
ADM_361 phenoCommon No Phenotype
ADM_361 comment Silent point mutation in coding region
ADM_362 commonName Lys332
ADM_362 alias NM_002087.2:c.996G>A
ADM_362 protEffect NP_002078.1:p.K332
ADM_362 disease not phenotype-associated
ADM_362 phenoCommon No Phenotype
ADM_362 comment Silent point mutation in coding region
ADM_363 commonName Pro470Leu
ADM_363 alias NM_002087.2:c.1409C>T
ADM_363 protEffect NP_002078.1:p.P470L
ADM_363 disease not phenotype-associated
ADM_363 phenoCommon No Phenotype
ADM_363 comment Point mutation in coding region predicting an amino acid substitution
ADM_364 commonName Cys475
ADM_364 alias NM_002087.2:c.1425C>T
ADM_364 protEffect NP_002078.1:p.C475
ADM_364 disease not phenotype-associated
ADM_364 phenoCommon No Phenotype
ADM_364 comment Silent point mutation in coding region
ADM_365 commonName Val550Ile
ADM_365 alias NM_002087.2:c.1648G>A
ADM_365 protEffect NP_002078.1:p.V550I
ADM_365 disease not phenotype-associated
ADM_365 phenoCommon No Phenotype
ADM_365 comment Point mutation in coding region predicting an amino acid substitution
ADM_366 commonName Arg278Ser
ADM_366 alias NM_000021.2:c.834A>C
ADM_366 protEffect NP_000012.1:p.R278S
ADM_366 disease phenotype-associated
ADM_366 phenoCommon Alzheimer Disease / Spastic Paraparesis
ADM_366 comment Point mutation in coding region predicting an amino acid substitution
ADM_367 commonName Leu420Arg
ADM_367 alias NM_000021.2:c.1259T>C
ADM_367 protEffect NP_000012.1:p.L420R
ADM_367 disease phenotype-associated
ADM_367 phenoCommon Alzheimer Disease
ADM_367 comment Point mutation in coding region predicting an amino acid substitution
ADM_368 commonName Leu166del
ADM_368 alias NM_000021.2:c.496_498delCTT
ADM_368 protEffect NP_000012.1:p.L166del
ADM_368 disease phenotype-associated
ADM_368 phenoCommon Alzheimer Disease
ADM_368 comment Trinucleotide deletion predicted to result in deletion of 1 amino acid
ADM_369 commonName Met233Leu
ADM_369 alias NM_000021.2:c.697A>T
ADM_369 protEffect NP_000012.1:p.M233L
ADM_369 disease phenotype-associated
ADM_369 phenoCommon Frontotemporal Dementia
ADM_369 comment Point mutation in coding region predicting an amino acid substitution
ADM_371 commonName Thr382fs
ADM_371 alias NM_002087.2:c.1144_1145insA
ADM_371 protEffect NP_002078.1:p.T382NfsX32
ADM_371 disease phenotype-associated
ADM_371 phenoCommon Frontotemporal Dementia
ADM_371 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay"
ADM_372 commonName Leu53Pro
ADM_372 alias NM_002087.2:c.158T>C
ADM_372 protEffect NP_002078.1:p.L53P
ADM_372 comment Point mutation in coding region predicting an amino acid substitution
ADM_373 commonName Ala85Val
ADM_373 alias NM_000447.1:c.254C>T
ADM_373 protEffect NP_000438.1:p.A85V
ADM_373 disease phenotype-associated
ADM_373 phenoCommon Alzheimer Disease
ADM_373 comment Point mutation in coding region predicting an amino acid substitution
ADM_374 commonName Val363Ile
ADM_374 alias BN000503.1:c.2092G>A
ADM_374 protEffect CAG26750.1:p.V698I
ADM_374 disease phenotype-associated
ADM_374 phenoCommon Progressive Nonfluent Aphasia
ADM_374 comment Point mutation in coding region predicting an amino acid substitution
ADM_375 commonName Arg110X
ADM_375 alias NM_002087.2:c.328C>T
ADM_375 protEffect NP_002078.1:p.R110X
ADM_375 disease phenotype-associated
ADM_375 phenoCommon Frontotemporal Dementia
ADM_375 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay
ADM_376 commonName Gln337X
ADM_376 alias NM_002087.2:c.1009C>T
ADM_376 protEffect NP_002078.1:p.Q337X
ADM_376 disease phenotype-associated
ADM_376 phenoCommon Frontotemporal Dementia
ADM_376 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay
ADM_377 commonName Pro301Thr
ADM_377 alias BN000503.1:c.1906C>A
ADM_377 protEffect CAG26750.1:p.P636T
ADM_377 disease phenotype-associated
ADM_377 phenoCommon Frontotemporal Dementia
ADM_377 comment Point mutation in coding region predicting an amino acid substitution
ADM_378 commonName Danish CHMP2B
ADM_378 alias NM_014043.2:c.531_532ins201;c.532_541del
ADM_378 protEffect NP_054762.2:p.M178VfsX2;p.M178LfsX30
ADM_378 disease phenotype-associated
ADM_378 phenoCommon Frontotemporal Dementia
ADM_378 comment "Point mutation in intron 5 splice acceptor site causing intron 5 retention and cryptic splicing, predicted to result in 3' protein truncation"
ADM_379 commonName Asp148Tyr
ADM_379 alias NM_014043.2:c.442G>T
ADM_379 protEffect NP_054762.2:p.D148Y
ADM_379 disease phenotype-associated
ADM_379 phenoCommon Frontotemporal Dementia
ADM_379 comment Point mutation in coding region predicting an amino acid substitution
ADM_380 commonName Arg186X;Afrikaner CHMP2B
ADM_380 alias NM_014043.2:c.556C>T
ADM_380 protEffect NP_054762.2:p.R186X
ADM_380 comment "Point mutation in coding region creating a premature termination codon, predicted to result in 3' protein truncation"
ADM_381 commonName Thr9
ADM_381 alias NM_014043.2:c.27C>T
ADM_381 protEffect NP_054762.2:p.T9
ADM_381 disease not phenotype-associated
ADM_381 phenoCommon No Phenotype
ADM_381 comment Silent point mutation in coding region
ADM_382 commonName Thr104
ADM_382 alias NM_014043.2:c.312C>T
ADM_382 protEffect NP_054762.2:p.T104
ADM_382 disease not phenotype-associated
ADM_382 phenoCommon No Phenotype
ADM_382 comment Silent point mutation in coding region
ADM_383 commonName Thr124
ADM_383 alias NM_014043.2:c.372A>C
ADM_383 protEffect NP_054762.2:p.124
ADM_383 disease not phenotype-associated
ADM_383 phenoCommon No Phenotype
ADM_383 comment Silent point mutation in coding region
ADM_384 commonName Ile29Val
ADM_384 alias NM_014043.2:c.85A>G
ADM_384 protEffect NP_054762.2:p.I29V
ADM_384 comment Point mutation in coding region predicting an amino acid substitution
ADM_385 commonName Gln206His
ADM_385 alias NM_014043.2:c.618A>C
ADM_385 protEffect NP_054762.2:p.Q206H
ADM_385 disease phenotype-associated
ADM_385 phenoCommon Motor Neuron Disease
ADM_385 comment Point mutation in coding region predicting an amino acid substitution
ADM_386 commonName Gln165X
ADM_386 alias NM_014043.2:c.493C>T
ADM_386 protEffect NP_054762.2:p.Q165X
ADM_386 disease phenotype-associated
ADM_386 phenoCommon Frontotemporal Dementia
ADM_386 comment "Point mutation in coding region creating a premature termination codon, predicted to result in 3' protein truncation"
ADM_387 commonName Asn143Ser
ADM_387 alias NM_014043.2:c.428A>G
ADM_387 protEffect NP_054762.2:p.N143S
ADM_387 disease phenotype-associated
ADM_387 phenoCommon Corticobasal Syndrome
ADM_387 comment Point mutation in coding region predicting an amino acid substitution
DMD:c.3409C>T protEffect DMD:p.Gln1137Stop
DMD:c.3413G>A protEffect DMD:p.Trp1138Stop
DMD:c.3423G>T protEffect DMD:p.Met1141Ile
DMD:c.3427C>T protEffect DMD:p.Gln1143Stop
DMD:c.3430C>T protEffect DMD:p.Gln1144Stop
DMD:c.3432G>A protEffect DMD:p.Gln1144Gln
DMD:c.3445A>T protEffect DMD:p.Lys1149Stop
DMD:c.3469G>T protEffect DMD:p.Glu1157Stop
DMD:c.3472A>T protEffect DMD:p.Lys1158Stop
DMD:c.347T>C protEffect DMD:p.Leu116Pro
DMD:c.3500C>G protEffect DMD:p.Ser1167Stop
DMD:c.3513A>G protEffect DMD:p.Glu1171Glu
DMD:c.3515G>A protEffect DMD:p.Trp1172Stop
DMD:c.3516G>A protEffect DMD:p.Trp1172Stop
DMD:c.3523C>T protEffect DMD:p.Gln1175Stop
DMD:c.3535G>T protEffect DMD:p.Glu1179Stop
DMD:c.3543T>G protEffect DMD:p.Leu1181Leu
DMD:c.3544G>T protEffect DMD:p.Glu1182Stop
DMD:c.354G>A protEffect DMD:p.Trp118Stop
DMD:c.3556G>T protEffect DMD:p.Glu1186Stop
DMD:c.355C>T protEffect DMD:p.Gln119Stop
DMD:c.3562A>T protEffect DMD:p.Lys1188Stop
DMD:c.3580C>T protEffect DMD:p.Gln1194Stop
DMD:c.3595G>T protEffect DMD:p.Glu1199Stop
DMD:c.3613G>A protEffect DMD:p.Glu1205Lys
DMD:c.361A>T protEffect DMD:p.Lys121Stop
DMD:c.3622C>T protEffect DMD:p.Gln1208Stop
DMD:c.3631G>T protEffect DMD:p.Glu1211Stop
DMD:c.3679C>T protEffect DMD:p.Gln1227Stop
DMD:c.3700G>T protEffect DMD:p.Glu1234Stop
DMD:c.3705C>T protEffect DMD:p.Ala1235Ala
DMD:c.3709A>T protEffect DMD:p.Lys1237Stop
DMD:c.3734C>T protEffect DMD:p.Thr1245Ile
DMD:c.3742C>T protEffect DMD:p.Gln1248Stop
DMD:c.3746G>A protEffect DMD:p.Trp1249Stop
DMD:c.3795G>A protEffect DMD:p.Trp1265Stop
DMD:c.3801T>A protEffect DMD:p.Cys1267Stop
DMD:c.3804G>A protEffect DMD:p.Trp1268Stop
DMD:c.3822C>A protEffect DMD:p.Tyr1274Stop
DMD:c.3822C>G protEffect DMD:p.Tyr1274Stop
DMD:c.3832G>C protEffect DMD:p.Ala1278Pro
DMD:c.3868A>T protEffect DMD:p.Lys1290Stop
DMD:c.3892G>T protEffect DMD:p.Gly1298Stop
DMD:c.392T>A protEffect DMD:p.Leu131Stop
DMD:c.3935T>A protEffect DMD:p.Leu1312Stop
DMD:c.3940C>T protEffect DMD:p.Arg1314Stop
DMD:c.3947C>A protEffect DMD:p.Ser1316Stop
DMD:c.3952G>C protEffect DMD:p.Asp1318His
DMD:c.3964C>T protEffect DMD:p.Gln1322Stop
DMD:c.3970C>T protEffect DMD:p.Arg1324Cys
DMD:c.397C>T protEffect DMD:p.Gln133Stop
DMD:c.3982C>T protEffect DMD:p.Gln1328Stop
DMD:c.4000G>T protEffect DMD:p.Gly1334Stop
DMD:c.4012G>T protEffect DMD:p.Glu1338Stop
DMD:c.4033G>T protEffect DMD:p.Glu1345Stop
DMD:c.4057G>T protEffect DMD:p.Glu1353Stop
DMD:c.4064A>T protEffect DMD:p.His1355Leu
DMD:c.4071G>C protEffect DMD:p.Glu1357Asp
DMD:c.4084C>T protEffect DMD:p.Gln1362Stop
DMD:c.4087A>T protEffect DMD:p.Lys1363Stop
DMD:c.4099C>T protEffect DMD:p.Gln1367Stop
DMD:c.409G>T protEffect DMD:p.Glu137Stop
DMD:c.4108C>T protEffect DMD:p.Gln1370Stop
DMD:c.4117C>T protEffect DMD:p.Gln1373Stop
DMD:c.4131A>T protEffect DMD:p.Lys1377Asn
DMD:c.4147C>T protEffect DMD:p.Gln1383Stop
DMD:c.4150G>T protEffect DMD:p.Glu1384Stop
DMD:c.4162T>G protEffect DMD:p.Phe1388Val
DMD:c.4174C>T protEffect DMD:p.Gln1392Stop
DMD:c.419T>A protEffect DMD:p.Leu140His
DMD:c.4213C>T protEffect DMD:p.Gln1405Stop
DMD:c.4240C>T protEffect DMD:p.Gln1414Stop
DMD:c.4250T>A protEffect DMD:p.Leu1417Stop
DMD:c.4275A>G protEffect DMD:p.Glu1425Glu
DMD:c.4285A>T protEffect DMD:p.Lys1429Stop
DMD:c.4294C>T protEffect DMD:p.Gln1432Stop
DMD:c.429G>A protEffect DMD:p.Trp143Stop
DMD:c.4303G>T protEffect DMD:p.Glu1435Stop
DMD:c.431T>A protEffect DMD:p.Val144Asp
DMD:c.433C>T protEffect DMD:p.Arg145Stop
DMD:c.4352T>A protEffect DMD:p.Leu1451Stop
DMD:c.4375C>T protEffect DMD:p.Arg1459Stop
DMD:c.4384C>T protEffect DMD:p.Gln1462Stop
DMD:c.4405C>T protEffect DMD:p.Gln1469Stop
DMD:c.4406A>T protEffect DMD:p.Gln1469Leu
DMD:c.440C>A protEffect DMD:p.Ser147Stop
DMD:c.440C>G protEffect DMD:p.Ser147Stop
DMD:c.4414C>T protEffect DMD:p.Gln1472Stop
DMD:c.4483C>T protEffect DMD:p.Gln1495Stop
DMD:c.450T>G protEffect DMD:p.Asn150Lys
DMD:c.4518G>A protEffect DMD:p.Val1506Val
DMD:c.4527T>A protEffect DMD:p.Tyr1509Stop
DMD:c.4527T>G protEffect DMD:p.Tyr1509Stop
DMD:c.4529A>G protEffect DMD:p.Lys1510Arg
DMD:c.453T>A protEffect DMD:p.Tyr151Stop
DMD:c.4570A>T protEffect DMD:p.Lys1524Stop
DMD:c.457C>T protEffect DMD:p.Gln153Stop
DMD:c.4591C>T protEffect DMD:p.Gln1531Stop
DMD:c.4600C>T protEffect DMD:p.Gln1534Stop
DMD:c.4606G>T protEffect DMD:p.Glu1536Stop
DMD:c.4610A>T protEffect DMD:p.Asn1537Ile
DMD:c.4618G>T protEffect DMD:p.Glu1540Stop
DMD:c.4662G>C protEffect DMD:p.Glu1554Asp
DMD:c.4666G>T protEffect DMD:p.Gly1556Stop
DMD:c.4687A>T protEffect DMD:p.Lys1563Stop
DMD:c.4693C>T protEffect DMD:p.Gln1565Stop
DMD:c.4697T>A protEffect DMD:p.Leu1566Stop
DMD:c.4702A>T protEffect DMD:p.Lys1568Stop
DMD:c.4711A>T protEffect DMD:p.Lys1571Stop
DMD:c.4729C>T protEffect DMD:p.Arg1577Stop
DMD:c.4740G>T protEffect DMD:p.Met1580Ile
DMD:c.474C>G protEffect DMD:p.Asn158Lys
DMD:c.4757G>A protEffect DMD:p.Trp1586Stop
DMD:c.4758G>A protEffect DMD:p.Trp1586Stop
DMD:c.4777G>T protEffect DMD:p.Glu1593Stop
DMD:c.4793C>A protEffect DMD:p.Ser1598Stop
DMD:c.4838G>A protEffect DMD:p.Trp1613Stop
DMD:c.4852C>T protEffect DMD:p.Gln1618Stop
DMD:c.4864G>T protEffect DMD:p.Glu1622Stop
DMD:c.4870C>T protEffect DMD:p.Gln1624Stop
DMD:c.4877T>A protEffect DMD:p.Val1626Glu
DMD:c.4878G>T protEffect DMD:p.Val1626Val
DMD:c.487T>G protEffect DMD:p.Trp163Gly
DMD:c.488G>A protEffect DMD:p.Trp163Stop
DMD:c.4933A>T protEffect DMD:p.Lys1645Stop
DMD:c.494A>T protEffect DMD:p.Asp165Val
DMD:c.4954A>T protEffect DMD:p.Lys1652Stop
DMD:c.496G>A protEffect DMD:p.Gly166Ser
DMD:c.4996C>T protEffect DMD:p.Arg1666Stop
DMD:c.5009G>A protEffect DMD:p.Trp1670Stop
DMD:c.5010G>T protEffect DMD:p.Trp1670Cys
DMD:c.5016T>A protEffect DMD:p.Asn1672Lys
DMD:c.5021T>A protEffect DMD:p.Leu1674Stop
DMD:c.5032C>T protEffect DMD:p.Gln1678Stop
DMD:c.503C>A protEffect DMD:p.Ala168Asp
DMD:c.5040C>T protEffect DMD:p.His1680His
DMD:c.5044G>T protEffect DMD:p.Glu1682Stop
DMD:c.5089C>T protEffect DMD:p.Gln1697Stop
DMD:c.511G>C protEffect DMD:p.Ala171Pro
DMD:c.5131C>T protEffect DMD:p.Gln1711Stop
DMD:c.5134C>T protEffect DMD:p.Gln1712Stop
DMD:c.5140G>T protEffect DMD:p.Glu1714Stop
DMD:c.5144A>G protEffect DMD:p.Asp1715Gly
DMD:c.5159T>A protEffect DMD:p.Leu1720Stop
DMD:c.515T>A protEffect DMD:p.Leu172His
DMD:c.5163G>C protEffect DMD:p.Lys1721Asn
DMD:c.5167G>T protEffect DMD:p.Glu1723Stop
DMD:c.5182C>T protEffect DMD:p.Arg1728Cys
DMD:c.5188A>T protEffect DMD:p.Lys1730Stop
DMD:c.5203C>T protEffect DMD:p.Arg1735Cys
DMD:c.5234G>A protEffect DMD:p.Arg1745His
DMD:c.5255T>G protEffect DMD:p.Leu1752Stop
DMD:c.5260G>T protEffect DMD:p.Glu1754Stop
DMD:c.5266C>T protEffect DMD:p.Gln1756Stop
DMD:c.5280C>T protEffect DMD:p.Leu1760Leu
DMD:c.5287C>T protEffect DMD:p.Arg1763Stop
DMD:c.52A>T protEffect DMD:p.Lys18Stop
DMD:c.5314A>T protEffect DMD:p.Lys1772Stop
DMD:c.5341A>T protEffect DMD:p.Lys1781Stop
DMD:c.5344G>T protEffect DMD:p.Glu1782Stop
DMD:c.5350G>T protEffect DMD:p.Glu1784Stop
DMD:c.5371C>T protEffect DMD:p.Gln1791Stop
DMD:c.5398G>T protEffect DMD:p.Glu1800Stop
DMD:c.5404C>T protEffect DMD:p.Gln1802Stop
DMD:c.5407C>T protEffect DMD:p.Gln1803Stop
DMD:c.5444A>G protEffect DMD:p.Asp1815Gly
DMD:c.5459A>G protEffect DMD:p.Asn1820Ser
DMD:c.5461G>T protEffect DMD:p.Glu1821Stop
DMD:c.5476G>T protEffect DMD:p.Glu1826Stop
DMD:c.5480T>A protEffect DMD:p.Leu1827Stop
DMD:c.549G>A protEffect DMD:p.Trp183Stop
DMD:c.54G>T protEffect DMD:p.Lys18Asn
DMD:c.5530C>A protEffect DMD:p.Arg1844Arg
DMD:c.5530C>T protEffect DMD:p.Arg1844Stop
DMD:c.5533G>T protEffect DMD:p.Glu1845Stop
DMD:c.5542A>T protEffect DMD:p.Lys1848Stop
DMD:c.5551C>T protEffect DMD:p.Gln1851Stop
DMD:c.5554C>T protEffect DMD:p.Gln1852Stop
DMD:c.5561T>G protEffect DMD:p.Leu1854Stop
DMD:c.5563C>T protEffect DMD:p.Gln1855Stop
DMD:c.5608A>T protEffect DMD:p.Lys1870Stop
DMD:c.5611A>T protEffect DMD:p.Lys1871Stop
DMD:c.5615C>T protEffect DMD:p.Ala1872Val
DMD:c.5637G>A protEffect DMD:p.Trp1879Stop
DMD:c.5640T>A protEffect DMD:p.Tyr1880Stop
DMD:c.5641C>T protEffect DMD:p.Gln1881Stop
DMD:c.5646C>A protEffect DMD:p.Tyr1882Stop
DMD:c.5653C>T protEffect DMD:p.Gln1885Stop
DMD:c.565C>T protEffect DMD:p.Gln189Stop
DMD:c.5671A>T protEffect DMD:p.Lys1891Stop
DMD:c.568C>T protEffect DMD:p.Gln190Stop
DMD:c.5699T>G protEffect DMD:p.Leu1900Stop
DMD:c.5723A>T protEffect DMD:p.Asp1908Val
DMD:c.5724T>C protEffect DMD:p.Asp1908Asp
DMD:c.5725G>T protEffect DMD:p.Glu1909Stop
DMD:c.572C>G protEffect DMD:p.Ser191Stop
DMD:c.5752G>T protEffect DMD:p.Glu1918Stop
DMD:c.5758C>T protEffect DMD:p.Gln1920Stop
DMD:c.5773G>T protEffect DMD:p.Glu1925Stop
DMD:c.5775G>A protEffect DMD:p.Glu1925Glu
DMD:c.5800G>T protEffect DMD:p.Glu1934Stop
DMD:c.580C>T protEffect DMD:p.Gln194Stop
DMD:c.583C>T protEffect DMD:p.Arg195Stop
DMD:c.5851C>T protEffect DMD:p.Gln1951Stop
DMD:c.5867G>A protEffect DMD:p.Trp1956Stop
DMD:c.587T>C protEffect DMD:p.Leu196Pro
DMD:c.5893C>T protEffect DMD:p.Gln1965Stop
DMD:c.5899C>T protEffect DMD:p.Arg1967Stop
DMD:c.5902A>T protEffect DMD:p.Arg1968Stop
DMD:c.5917C>T protEffect DMD:p.Gln1973Stop
DMD:c.596C>A protEffect DMD:p.Ala199Glu
DMD:c.5985T>G protEffect DMD:p.Tyr1995Stop
DMD:c.6028G>T protEffect DMD:p.Ala2010Ser
DMD:c.6037G>T protEffect DMD:p.Glu2013Stop
DMD:c.6072T>A protEffect DMD:p.Cys2024Stop
DMD:c.6103G>T protEffect DMD:p.Glu2035Stop
DMD:c.6105G>T protEffect DMD:p.Glu2035Asp
DMD:c.6117G>A protEffect DMD:p.Lys2039Lys
DMD:c.6117G>C protEffect DMD:p.Lys2039Asn
DMD:c.615T>A protEffect DMD:p.Tyr205Stop
DMD:c.616C>T protEffect DMD:p.Gln206Stop
DMD:c.6208G>T protEffect DMD:p.Glu2070Stop
DMD:c.620T>G protEffect DMD:p.Leu207Stop
DMD:c.6223C>T protEffect DMD:p.Gln2075Stop
DMD:c.6238C>T protEffect DMD:p.Gln2080Stop
DMD:c.6255G>A protEffect DMD:p.Trp2085Stop
DMD:c.6276C>G protEffect DMD:p.Tyr2092Stop
DMD:c.6283C>T protEffect DMD:p.Arg2095Stop
DMD:c.6292C>T protEffect DMD:p.Arg2098Stop
DMD:c.6310G>T protEffect DMD:p.Glu2104Stop
DMD:c.6318G>A protEffect DMD:p.Trp2106Stop
DMD:c.6322C>T protEffect DMD:p.Arg2108Cys
DMD:c.6352C>T protEffect DMD:p.Gln2118Stop
DMD:c.6364G>T protEffect DMD:p.Glu2122Stop
DMD:c.6373C>T protEffect DMD:p.Gln2125Stop
DMD:c.6391C>T protEffect DMD:p.Gln2131Stop
DMD:c.6423C>A protEffect DMD:p.Tyr2141Stop
DMD:c.6423C>G protEffect DMD:p.Tyr2141Stop
DMD:c.6423C>T protEffect DMD:p.Tyr2141Tyr
DMD:c.6429G>A protEffect DMD:p.Trp2143Stop
DMD:c.6432T>A protEffect DMD:p.Tyr2144Stop
DMD:c.6436A>T protEffect DMD:p.Lys2146Stop
DMD:c.6445C>T protEffect DMD:p.Gln2149Stop
DMD:c.6460C>T protEffect DMD:p.Gln2154Stop
DMD:c.6463C>T protEffect DMD:p.Arg2155Trp
DMD:c.6499G>T protEffect DMD:p.Glu2167Stop
DMD:c.6544C>T protEffect DMD:p.Gln2182Stop
DMD:c.6571C>T protEffect DMD:p.Arg2191Trp
DMD:c.6576G>A protEffect DMD:p.Trp2192Stop
DMD:c.6577C>T protEffect DMD:p.Gln2193Stop
DMD:c.6592C>T protEffect DMD:p.Gln2198Stop
DMD:c.6641C>A protEffect DMD:p.Ser2214Stop
DMD:c.6649C>T protEffect DMD:p.Gln2217Stop
DMD:c.6674T>A protEffect DMD:p.Leu2225Stop
DMD:c.6674T>G protEffect DMD:p.Leu2225Stop
DMD:c.6721G>T protEffect DMD:p.Gly2241Stop
DMD:c.6730C>T protEffect DMD:p.Gln2244Stop
DMD:c.6733C>T protEffect DMD:p.Gln2245Stop
DMD:c.673A>T protEffect DMD:p.Lys225Stop
DMD:c.6742G>T protEffect DMD:p.Glu2248Stop
DMD:c.6790C>T protEffect DMD:p.Gln2264Stop
DMD:c.6799C>T protEffect DMD:p.Leu2267Phe
DMD:c.6805C>T protEffect DMD:p.Gln2269Stop
DMD:c.6809T>G protEffect DMD:p.Leu2270Stop
DMD:c.6828C>T protEffect DMD:p.Pro2276Pro
DMD:c.6856G>T protEffect DMD:p.Glu2286Stop
DMD:c.6862C>T protEffect DMD:p.Gln2288Stop
DMD:c.6868A>T protEffect DMD:p.Lys2290Stop
DMD:c.686T>A protEffect DMD:p.Leu229Stop
DMD:c.6880A>T protEffect DMD:p.Lys2294Stop
DMD:c.6896A>C protEffect DMD:p.Asn2299Thr
DMD:c.6905G>A protEffect DMD:p.Trp2302Stop
DMD:c.6906G>A protEffect DMD:p.Trp2302Stop
DMD:c.691T>A protEffect DMD:p.Tyr231Asn
DMD:c.691T>G protEffect DMD:p.Tyr231Asp
DMD:c.6943G>T protEffect DMD:p.Glu2315Stop
DMD:c.694A>T protEffect DMD:p.Ile232Phe
DMD:c.6955C>T protEffect DMD:p.Gln2319Stop
DMD:c.6958A>T protEffect DMD:p.Ile2320Leu
DMD:c.696C>G protEffect DMD:p.Ile232Met
DMD:c.7006C>T protEffect DMD:p.Gln2336Stop
DMD:c.7010T>G protEffect DMD:p.Leu2337Stop
DMD:c.7016A>C protEffect DMD:p.His2339Pro
DMD:c.701C>A protEffect DMD:p.Ser234Stop
DMD:c.7054G>T protEffect DMD:p.Glu2352Stop
DMD:c.7075C>T protEffect DMD:p.Gln2359Stop
DMD:c.7080A>G protEffect DMD:p.Glu2360Glu
DMD:c.7085C>A protEffect DMD:p.Pro2362Gln
DMD:c.7096C>A protEffect DMD:p.Gln2366Lys
DMD:c.709C>T protEffect DMD:p.Gln237Stop
DMD:c.7105G>T protEffect DMD:p.Glu2369Stop
DMD:c.711A>G protEffect DMD:p.Gln237Gln
DMD:c.712G>T protEffect DMD:p.Val238Phe
DMD:c.7159C>T protEffect DMD:p.Gln2387Stop
DMD:c.7183G>A protEffect DMD:p.Ala2395Thr
DMD:c.7204A>T protEffect DMD:p.Lys2402Stop
DMD:c.720T>G protEffect DMD:p.Pro240Pro
DMD:c.721C>T protEffect DMD:p.Gln241Stop
DMD:c.724C>T protEffect DMD:p.Gln242Stop
DMD:c.7255G>T protEffect DMD:p.Glu2419Stop
DMD:c.7339C>T protEffect DMD:p.Gln2447Stop
DMD:c.735T>A protEffect DMD:p.Ile245Ile
DMD:c.7436G>A protEffect DMD:p.Trp2479Stop
DMD:c.745C>T protEffect DMD:p.Gln249Stop
DMD:c.7471C>T protEffect DMD:p.Gln2491Stop
DMD:c.748G>T protEffect DMD:p.Glu250Stop
DMD:c.754G>T protEffect DMD:p.Glu252Stop
DMD:c.7564C>T protEffect DMD:p.Gln2522Stop
DMD:c.7576C>T protEffect DMD:p.Gln2526Stop
DMD:c.7582G>T protEffect DMD:p.Glu2528Stop
DMD:c.7620G>A protEffect DMD:p.Lys2540Lys
DMD:c.7657C>T protEffect DMD:p.Arg2553Stop
DMD:c.7672C>T protEffect DMD:p.Gln2558Stop
DMD:c.7682G>A protEffect DMD:p.Trp2561Stop
DMD:c.7693C>T protEffect DMD:p.Gln2565Stop
DMD:c.7696G>T protEffect DMD:p.Glu2566Stop
DMD:c.7720C>T protEffect DMD:p.Gln2574Stop
DMD:c.7722G>C protEffect DMD:p.Gln2574His
DMD:c.7728T>C protEffect DMD:p.Asn2576Asn
DMD:c.7736T>A protEffect DMD:p.Leu2579Stop
DMD:c.7755G>A protEffect DMD:p.Trp2585Stop
DMD:c.7798A>T protEffect DMD:p.Arg2600Stop
DMD:c.77A>G protEffect DMD:p.Asn26Ser
DMD:c.7814C>G protEffect DMD:p.Ser2605Stop
DMD:c.7817G>A protEffect DMD:p.Trp2606Stop
DMD:c.7820A>T protEffect DMD:p.Lys2607Met
DMD:c.7822G>T protEffect DMD:p.Glu2608Stop
DMD:c.7855A>T protEffect DMD:p.Lys2619Stop
DMD:c.7961A>G protEffect DMD:p.Asp2654Gly
DMD:c.799C>T protEffect DMD:p.Gln267Stop
DMD:c.79G>C protEffect DMD:p.Ala27Pro
DMD:c.8006C>T protEffect DMD:p.Ser2669Phe
DMD:c.8009G>A protEffect DMD:p.Trp2670Stop
DMD:c.802T>C protEffect DMD:p.Leu268Leu
DMD:c.8038C>T protEffect DMD:p.Arg2680Stop
DMD:c.8044G>T protEffect DMD:p.Ala2682Ser
DMD:c.8055A>G protEffect DMD:p.Glu2685Glu
DMD:c.8069T>G protEffect DMD:p.Leu2690Stop
DMD:c.8074C>T protEffect DMD:p.Gln2692Stop
DMD:c.8098A>T protEffect DMD:p.Lys2700Stop
DMD:c.811C>T protEffect DMD:p.Gln271Stop
DMD:c.8146C>T protEffect DMD:p.Gln2716Stop
DMD:c.8161A>T protEffect DMD:p.Lys2721Stop
DMD:c.8176G>T protEffect DMD:p.Glu2726Stop
DMD:c.8194A>T protEffect DMD:p.Lys2732Stop
DMD:c.8209C>T protEffect DMD:p.Gln2737Stop
DMD:c.8214G>A protEffect DMD:p.Trp2738Stop
DMD:c.8219A>G protEffect DMD:p.Asp2740Gly
DMD:c.821A>G protEffect DMD:p.Tyr274Cys
DMD:c.8269G>T protEffect DMD:p.Glu2757Stop
DMD:c.826C>T protEffect DMD:p.Gln276Stop
DMD:c.829C>T protEffect DMD:p.Gln277Stop
DMD:c.82C>T protEffect DMD:p.Gln28Stop
DMD:c.831G>A protEffect DMD:p.Gln277Gln
DMD:c.831G>T protEffect DMD:p.Gln277His
DMD:c.8322G>T protEffect DMD:p.Leu2774Leu
DMD:c.8326C>T protEffect DMD:p.Gln2776Stop
DMD:c.8333G>A protEffect DMD:p.Arg2778His
DMD:c.8353A>T protEffect DMD:p.Lys2785Stop
DMD:c.8357G>A protEffect DMD:p.Trp2786Stop
DMD:c.835A>G protEffect DMD:p.Thr279Ala
DMD:c.8371A>T protEffect DMD:p.Lys2791Stop
DMD:c.837G>A protEffect DMD:p.Thr279Thr
DMD:c.8390G>C protEffect DMD:p.Arg2797Thr
DMD:c.8416C>T protEffect DMD:p.Gln2806Stop
DMD:c.8420G>A protEffect DMD:p.Trp2807Stop
DMD:c.8443C>T protEffect DMD:p.Gln2815Stop
DMD:c.8460G>A protEffect DMD:p.Trp2820Stop
DMD:c.8464C>T protEffect DMD:p.Gln2822Stop
DMD:c.8491C>T protEffect DMD:p.Gln2831Stop
DMD:c.8496A>C protEffect DMD:p.Ala2832Ala
DMD:c.8527A>T protEffect DMD:p.Lys2843Stop
DMD:c.8571T>C protEffect DMD:p.Thr2857Thr
DMD:c.8579C>A protEffect DMD:p.Pro2860His
DMD:c.858T>G protEffect DMD:p.Tyr286Stop
DMD:c.8608C>T protEffect DMD:p.Arg2870Stop
DMD:c.8655C>A protEffect DMD:p.Tyr2885Stop
DMD:c.8656C>T protEffect DMD:p.Gln2886Stop
DMD:c.8668G>A protEffect DMD:p.Glu2890Lys
DMD:c.8680G>T protEffect DMD:p.Glu2894Stop
DMD:c.8686A>T protEffect DMD:p.Arg2896Stop
DMD:c.8692C>T protEffect DMD:p.Gln2898Stop
DMD:c.8713C>T protEffect DMD:p.Arg2905Stop
DMD:c.8728G>T protEffect DMD:p.Glu2910Stop
DMD:c.8729A>G protEffect DMD:p.Glu2910Gly
DMD:c.8729A>T protEffect DMD:p.Glu2910Val
DMD:c.8734A>G protEffect DMD:p.Asn2912Asp
DMD:c.8745G>A protEffect DMD:p.Trp2915Stop
DMD:c.8746G>T protEffect DMD:p.Glu2916Stop
DMD:c.8762A>G protEffect DMD:p.His2921Arg
DMD:c.8774G>A protEffect DMD:p.Trp2925Stop
DMD:c.8775G>A protEffect DMD:p.Trp2925Stop
DMD:c.8776C>T protEffect DMD:p.Gln2926Stop
DMD:c.8791G>T protEffect DMD:p.Glu2931Stop
DMD:c.8810A>G protEffect DMD:p.Gln2937Arg
DMD:c.8833G>C protEffect DMD:p.Glu2945Gln
DMD:c.883C>T protEffect DMD:p.Arg295Stop
DMD:c.8852G>A protEffect DMD:p.Arg2951His
DMD:c.8854C>T protEffect DMD:p.Gln2952Stop
DMD:c.8872G>T protEffect DMD:p.Gly2958Stop
DMD:c.8879G>A protEffect DMD:p.Trp2960Stop
DMD:c.8914C>T protEffect DMD:p.Gln2972Stop
DMD:c.8944C>T protEffect DMD:p.Arg2982Stop
DMD:c.8945G>A protEffect DMD:p.Arg2982Gln
DMD:c.897T>G protEffect DMD:p.Tyr299Stop
DMD:c.8988T>C protEffect DMD:p.Asn2996Asn
DMD:c.9001C>T protEffect DMD:p.Gln3001Stop
DMD:c.9031C>T protEffect DMD:p.Pro3011Ser
DMD:c.9033G>A protEffect DMD:p.Pro3011Pro
DMD:c.903C>A protEffect DMD:p.Tyr301Stop
DMD:c.903C>G protEffect DMD:p.Tyr301Stop
DMD:c.9072G>A protEffect DMD:p.Trp3024Stop
DMD:c.907C>T protEffect DMD:p.Gln303Stop
DMD:c.9082C>T protEffect DMD:p.Gln3028Stop
DMD:c.9084G>A protEffect DMD:p.Gln3028Gln
DMD:c.9093C>T protEffect DMD:p.Val3031Val
DMD:c.9094G>A protEffect DMD:p.Glu3032Lys
DMD:c.9100C>T protEffect DMD:p.Arg3034Stop
DMD:c.9109C>T protEffect DMD:p.Gln3037Stop
DMD:c.9148C>T protEffect DMD:p.Gln3050Stop
DMD:c.9176G>A protEffect DMD:p.Gly3059Asp
DMD:c.9182G>A protEffect DMD:p.Trp3061Stop
DMD:c.9183G>A protEffect DMD:p.Trp3061Stop
DMD:c.9197C>A protEffect DMD:p.Ser3066Stop
DMD:c.9216C>A protEffect DMD:p.Tyr3072Stop
DMD:c.9216C>G protEffect DMD:p.Tyr3072Stop
DMD:c.9284T>G protEffect DMD:p.Leu3095Stop
DMD:c.9291C>T protEffect DMD:p.Asp3097Asp
DMD:c.9337C>T protEffect DMD:p.Arg3113Stop
DMD:c.9346C>T protEffect DMD:p.Gln3116Stop
DMD:c.9360C>A protEffect DMD:p.Cys3120Stop
DMD:c.9380C>G protEffect DMD:p.Ser3127Stop
DMD:c.9398T>A protEffect DMD:p.Leu3133Stop
DMD:c.9403C>T protEffect DMD:p.Gln3135Stop
DMD:c.9427C>T protEffect DMD:p.Gln3143Stop
DMD:c.9445C>T protEffect DMD:p.Gln3149Stop
DMD:c.9461T>A protEffect DMD:p.Leu3154Stop
DMD:c.9519C>A protEffect DMD:p.Leu3173Leu
DMD:c.9560A>G protEffect DMD:p.Asp3187Gly
DMD:c.9568C>T protEffect DMD:p.Arg3190Stop
DMD:c.956C>G protEffect DMD:p.Ser319Stop
DMD:c.9619T>C protEffect DMD:p.Cys3207Arg
DMD:c.9640A>T protEffect DMD:p.Lys3214Stop
DMD:c.9651C>A protEffect DMD:p.Tyr3217Stop
DMD:c.9655T>C protEffect DMD:p.Phe3219Leu
DMD:c.965T>A protEffect DMD:p.Leu322Stop
DMD:c.9682T>C protEffect DMD:p.Phe3228Leu
DMD:c.9691C>T protEffect DMD:p.Gln3231Stop
DMD:c.9695G>A protEffect DMD:p.Arg3232His
DMD:c.9739C>T protEffect DMD:p.Gln3247Stop
DMD:c.9748G>T protEffect DMD:p.Glu3250Stop
DMD:c.9804A>G protEffect DMD:p.Gln3268Gln
DMD:c.9851G>A protEffect DMD:p.Trp3284Stop
DMD:c.9862G>T protEffect DMD:p.Glu3288Stop
DMD:c.986C>G protEffect DMD:p.Ser329Stop
DMD:c.9882G>A protEffect DMD:p.Trp3294Stop
DMD:c.9913G>T protEffect DMD:p.Glu3305Stop
DMD:c.9928C>T protEffect DMD:p.Gln3310Stop
DMD:c.9931G>C protEffect DMD:p.Ala3311Pro
DMD:c.9934A>G protEffect DMD:p.Lys3312Glu
DMD:c.9938G>T protEffect DMD:p.Cys3313Phe
DMD:c.9952G>T protEffect DMD:p.Glu3318Stop
DMD:c.9955T>C protEffect DMD:p.Cys3319Arg
DMD:c.9959C>G protEffect DMD:p.Pro3320Arg
DMD:c.9978C>G protEffect DMD:p.Tyr3326Stop
DMD:c.998C>A protEffect DMD:p.Ser333Stop
DMD:c.9995T>G protEffect DMD:p.Phe3332Cys
DMD:c.9G>A protEffect DMD:p.Trp3Stop
DPM3:c.254T>C protEffect DPM3:p.Leu85Ser
DTNA:c.362C>T protEffect DTNA:p.Pro121Leu
DYSF:c.1004G>C protEffect DYSF:p.Gly335Ala
DYSF:c.1016C>G protEffect DYSF:p.Thr339Arg
DYSF:c.1020C>A protEffect DYSF:p.Ser340Arg
DYSF:c.1020C>G protEffect DYSF:p.Ser340Arg
DYSF:c.1054C>A protEffect DYSF:p.Leu352Met
DYSF:c.1101C>A protEffect DYSF:p.Asn367Lys
DYSF:c.1120G>C protEffect DYSF:p.Val374Leu
DYSF:c.1155C>A protEffect DYSF:p.Val385Val
DYSF:c.1165G>C protEffect DYSF:p.Glu389Gln
DYSF:c.1168G>A protEffect DYSF:p.Asp390Asn
DYSF:c.1176G>A protEffect DYSF:p.Pro392Pro
DYSF:c.1177C>T protEffect DYSF:p.Gln393Stop
DYSF:c.1186G>C protEffect DYSF:p.Asp396His
DYSF:c.1276G>A protEffect DYSF:p.Gly426Arg
DYSF:c.1277G>T protEffect DYSF:p.Gly426Val
DYSF:c.1357C>T protEffect DYSF:p.Pro453Ser
DYSF:c.1362C>T protEffect DYSF:p.Ser454Ser
DYSF:c.1368C>A protEffect DYSF:p.Cys456Stop
DYSF:c.1368C>G protEffect DYSF:p.Cys456Trp
DYSF:c.1369G>A protEffect DYSF:p.Glu457Lys
DYSF:c.1402C>T protEffect DYSF:p.Arg468Cys
DYSF:c.1448C>A protEffect DYSF:p.Ser483Stop
DYSF:c.154T>C protEffect DYSF:p.Trp52Arg
DYSF:c.1555G>A protEffect DYSF:p.Gly519Arg
DYSF:c.1566C>G protEffect DYSF:p.Tyr522Stop
DYSF:c.1617C>G protEffect DYSF:p.Tyr539Stop
DYSF:c.1658G>A protEffect DYSF:p.Arg553His
DYSF:c.1663C>T protEffect DYSF:p.Arg555Trp
DYSF:c.1717G>T protEffect DYSF:p.Glu573Stop
DYSF:c.1731G>A protEffect DYSF:p.Ala577Ala
DYSF:c.1758C>A protEffect DYSF:p.Tyr586Stop
DYSF:c.1758C>G protEffect DYSF:p.Tyr586Stop
DYSF:c.1813C>T protEffect DYSF:p.Gln605Stop
DYSF:c.1827T>C protEffect DYSF:p.Asp609Asp
DYSF:c.1834C>T protEffect DYSF:p.Gln612Stop
DYSF:c.1852G>A protEffect DYSF:p.Gly618Arg
DYSF:c.1860C>T protEffect DYSF:p.Tyr620Tyr
DYSF:c.1861G>A protEffect DYSF:p.Gly621Arg
DYSF:c.1873G>T protEffect DYSF:p.Asp625Tyr
DYSF:c.1911C>A protEffect DYSF:p.Tyr637Stop
DYSF:c.1980G>A protEffect DYSF:p.Val660Val
DYSF:c.2073G>A protEffect DYSF:p.Gln691Gln
DYSF:c.2113G>A protEffect DYSF:p.Val705Met
DYSF:c.2192C>G protEffect DYSF:p.Pro731Arg
DYSF:c.2217C>A protEffect DYSF:p.Tyr739Stop
DYSF:c.2283C>A protEffect DYSF:p.Gly761Gly
DYSF:c.2367C>A protEffect DYSF:p.Ser789Arg
DYSF:c.2372C>G protEffect DYSF:p.Pro791Arg
DYSF:c.2393T>C protEffect DYSF:p.Leu798Pro
DYSF:c.2452C>T protEffect DYSF:p.Arg818Trp
DYSF:c.2456G>A protEffect DYSF:p.Arg819Gln
DYSF:c.2494C>T protEffect DYSF:p.Gln832Stop
DYSF:c.2500A>G protEffect DYSF:p.Ile834Val
DYSF:c.251C>T protEffect DYSF:p.Ala84Val
DYSF:c.2641A>C protEffect DYSF:p.Thr881Pro
DYSF:c.2659A>T protEffect DYSF:p.Lys887Stop
DYSF:c.265C>T protEffect DYSF:p.Arg89Stop
DYSF:c.2790G>C protEffect DYSF:p.Trp930Cys
DYSF:c.2802G>A protEffect DYSF:p.Pro934Pro
DYSF:c.2813T>G protEffect DYSF:p.Leu938Arg
DYSF:c.2875C>T protEffect DYSF:p.Arg959Trp
DYSF:c.2894G>A protEffect DYSF:p.Trp965Stop
DYSF:c.2902A>T protEffect DYSF:p.Met968Leu
DYSF:c.2974T>C protEffect DYSF:p.Trp992Arg
DYSF:c.2975G>A protEffect DYSF:p.Trp992Stop
DYSF:c.2996G>A protEffect DYSF:p.Trp999Stop
DYSF:c.2997G>T protEffect DYSF:p.Trp999Cys
DYSF:c.3028C>T protEffect DYSF:p.Gln1010Stop
DYSF:c.3031G>C protEffect DYSF:p.Gly1011Arg
DYSF:c.3035G>A protEffect DYSF:p.Trp1012Stop
DYSF:c.3041A>G protEffect DYSF:p.Tyr1014Cys
DYSF:c.3065G>A protEffect DYSF:p.Arg1022Gln
DYSF:c.3086C>T protEffect DYSF:p.Pro1029Leu
DYSF:c.3112C>T protEffect DYSF:p.Arg1038Stop
DYSF:c.3113G>A protEffect DYSF:p.Arg1038Gln
DYSF:c.3115C>T protEffect DYSF:p.Arg1039Trp
DYSF:c.3116G>T protEffect DYSF:p.Arg1039Leu
DYSF:c.3121C>T protEffect DYSF:p.Arg1041Cys
DYSF:c.3126G>A protEffect DYSF:p.Trp1042Stop
DYSF:c.3130C>A protEffect DYSF:p.Arg1044Ser
DYSF:c.3137G>A protEffect DYSF:p.Arg1046His
DYSF:c.3179G>C protEffect DYSF:p.Arg1060Thr
DYSF:c.3307A>T protEffect DYSF:p.Lys1103Stop
DYSF:c.331C>T protEffect DYSF:p.Gln111Stop
DYSF:c.3477C>A protEffect DYSF:p.Tyr1159Stop
DYSF:c.3478C>T protEffect DYSF:p.Gln1160Stop
DYSF:c.3480G>A protEffect DYSF:p.Gln1160Gln
DYSF:c.3618C>G protEffect DYSF:p.Tyr1206Stop
DYSF:c.3624C>G protEffect DYSF:p.Ile1208Met
DYSF:c.3683T>C protEffect DYSF:p.Leu1228Pro
DYSF:c.3687C>A protEffect DYSF:p.Tyr1229Stop
DYSF:c.3702T>C protEffect DYSF:p.Tyr1234Tyr
DYSF:c.3721G>C protEffect DYSF:p.Gly1241Arg
DYSF:c.3725G>A protEffect DYSF:p.Arg1242His
DYSF:c.3802G>A protEffect DYSF:p.Gly1268Arg
DYSF:c.3805G>T protEffect DYSF:p.Glu1269Stop
DYSF:c.3826C>G protEffect DYSF:p.Leu1276Val
DYSF:c.3832C>T protEffect DYSF:p.Gln1278Stop
DYSF:c.383G>A protEffect DYSF:p.Gly128Glu
DYSF:c.3892A>G protEffect DYSF:p.Ile1298Val
DYSF:c.393C>T protEffect DYSF:p.Pro131Pro
DYSF:c.3967C>T protEffect DYSF:p.Gln1323Stop
DYSF:c.3972C>T protEffect DYSF:p.Asn1324Asn
DYSF:c.3973A>G protEffect DYSF:p.Ile1325Val
DYSF:c.3992G>T protEffect DYSF:p.Arg1331Leu
DYSF:c.4003G>A protEffect DYSF:p.Glu1335Lys
DYSF:c.4003G>T protEffect DYSF:p.Glu1335Stop
DYSF:c.4004A>G protEffect DYSF:p.Glu1335Gly
DYSF:c.4008C>A protEffect DYSF:p.Ile1336Ile
DYSF:c.4022T>C protEffect DYSF:p.Leu1341Pro
DYSF:c.4052A>G protEffect DYSF:p.Asn1351Ser
DYSF:c.4068C>T protEffect DYSF:p.Ser1356Ser
DYSF:c.4081T>C protEffect DYSF:p.Cys1361Arg
DYSF:c.4089C>T protEffect DYSF:p.Gly1363Gly
DYSF:c.4191C>G protEffect DYSF:p.Tyr1397Stop
DYSF:c.4194C>A protEffect DYSF:p.Cys1398Stop
DYSF:c.4253G>A protEffect DYSF:p.Gly1418Asp
DYSF:c.4323G>A protEffect DYSF:p.Gln1441Gln
DYSF:c.4390G>T protEffect DYSF:p.Glu1464Stop
DYSF:c.4433G>A protEffect DYSF:p.Trp1478Stop
DYSF:c.4439A>C protEffect DYSF:p.Lys1480Thr
DYSF:c.4504C>T protEffect DYSF:p.Leu1502Leu
DYSF:c.4514A>G protEffect DYSF:p.Tyr1505Cys
DYSF:c.4577A>C protEffect DYSF:p.Lys1526Thr
DYSF:c.4585C>T protEffect DYSF:p.Arg1529Trp
DYSF:c.4628G>A protEffect DYSF:p.Gly1543Asp
DYSF:c.4639G>C protEffect DYSF:p.Gly1547Arg
DYSF:c.463G>A protEffect DYSF:p.Gly155Arg
DYSF:c.4640G>A protEffect DYSF:p.Gly1547Asp
DYSF:c.4720G>T protEffect DYSF:p.Gly1574Stop
DYSF:c.4731G>A protEffect DYSF:p.Glu1577Glu
DYSF:c.4742G>A protEffect DYSF:p.Arg1581His
DYSF:c.4756C>T protEffect DYSF:p.Arg1586Stop
DYSF:c.4794G>T protEffect DYSF:p.Lys1598Asn
DYSF:c.4820T>C protEffect DYSF:p.Ile1607Thr
DYSF:c.4867C>T protEffect DYSF:p.Leu1623Leu
DYSF:c.4883G>T protEffect DYSF:p.Gly1628Val
DYSF:c.490G>T protEffect DYSF:p.Gly164Stop
DYSF:c.4943A>G protEffect DYSF:p.Tyr1648Cys
DYSF:c.4969G>A protEffect DYSF:p.Glu1657Lys
DYSF:c.4985C>G protEffect DYSF:p.Thr1662Arg
DYSF:c.5033G>A protEffect DYSF:p.Cys1678Tyr
DYSF:c.5033G>C protEffect DYSF:p.Cys1678Ser
DYSF:c.5036G>A protEffect DYSF:p.Gly1679Glu
DYSF:c.504T>C protEffect DYSF:p.Asp168Asp
DYSF:c.5077C>T protEffect DYSF:p.Arg1693Trp
DYSF:c.5078G>A protEffect DYSF:p.Arg1693Gln
DYSF:c.509C>A protEffect DYSF:p.Ala170Glu
DYSF:c.5105T>C protEffect DYSF:p.Leu1702Pro
DYSF:c.5149C>T protEffect DYSF:p.Arg1717Trp
DYSF:c.5194G>C protEffect DYSF:p.Glu1732Gln
DYSF:c.5194G>T protEffect DYSF:p.Glu1732Stop
DYSF:c.5200G>T protEffect DYSF:p.Glu1734Stop
DYSF:c.5201A>G protEffect DYSF:p.Glu1734Gly
DYSF:c.5243A>T protEffect DYSF:p.Glu1748Val
DYSF:c.526C>T protEffect DYSF:p.Gln176Stop
DYSF:c.5272C>T protEffect DYSF:p.Gln1758Stop
DYSF:c.5289G>C protEffect DYSF:p.Glu1763Asp
DYSF:c.5296G>T protEffect DYSF:p.Glu1766Stop
DYSF:c.5302C>T protEffect DYSF:p.Arg1768Trp
DYSF:c.5429G>A protEffect DYSF:p.Arg1810Lys
DYSF:c.5444G>T protEffect DYSF:p.Cys1815Phe
DYSF:c.5497G>T protEffect DYSF:p.Glu1833Stop
DYSF:c.5509G>A protEffect DYSF:p.Asp1837Asn
DYSF:c.5525G>A protEffect DYSF:p.Gly1842Asp
DYSF:c.5529G>A protEffect DYSF:p.Trp1843Stop
DYSF:c.5570A>G protEffect DYSF:p.His1857Arg
DYSF:c.5626G>A protEffect DYSF:p.Asp1876Asn
DYSF:c.565C>G protEffect DYSF:p.Leu189Val
DYSF:c.5692A>G protEffect DYSF:p.Thr1898Ala
DYSF:c.5713C>T protEffect DYSF:p.Arg1905Stop
DYSF:c.5739T>G protEffect DYSF:p.Asn1913Lys
DYSF:c.5765T>C protEffect DYSF:p.Leu1922Pro
DYSF:c.5824T>G protEffect DYSF:p.Cys1942Gly
DYSF:c.5829C>A protEffect DYSF:p.Ser1943Ser
DYSF:c.5859A>C protEffect DYSF:p.Pro1953Pro
DYSF:c.5884C>T protEffect DYSF:p.Gln1962Stop
DYSF:c.5899G>A protEffect DYSF:p.Gly1967Ser
DYSF:c.5903G>A protEffect DYSF:p.Trp1968Stop
DYSF:c.5908C>T protEffect DYSF:p.Pro1970Ser
DYSF:c.591C>G protEffect DYSF:p.Tyr197Stop
DYSF:c.5999G>A protEffect DYSF:p.Arg2000Gln
DYSF:c.6008G>T protEffect DYSF:p.Gly2003Val
DYSF:c.6063C>T protEffect DYSF:p.Pro2021Pro
DYSF:c.610C>T protEffect DYSF:p.Arg204Stop
DYSF:c.6119G>A protEffect DYSF:p.Trp2040Stop
DYSF:c.6124C>T protEffect DYSF:p.Arg2042Cys
DYSF:c.6203C>T protEffect DYSF:p.Pro2068Leu
DYSF:c.6217A>G protEffect DYSF:p.Met2073Val
DYSF:c.691C>T protEffect DYSF:p.Gln231Stop
DYSF:c.701G>A protEffect DYSF:p.Gly234Glu
DYSF:c.757C>T protEffect DYSF:p.Arg253Trp
DYSF:c.797T>C protEffect DYSF:p.Leu266Pro
DYSF:c.851T>C protEffect DYSF:p.Ile284Thr
DYSF:c.857T>A protEffect DYSF:p.Val286Glu
DYSF:c.895G>A protEffect DYSF:p.Gly299Arg
DYSF:c.895G>C protEffect DYSF:p.Gly299Arg
DYSF:c.895G>T protEffect DYSF:p.Gly299Trp
DYSF:c.896G>A protEffect DYSF:p.Gly299Glu
DYSF:c.927C>G protEffect DYSF:p.Tyr309Stop
DYSF:c.942C>T protEffect DYSF:p.His314His
EMD:c.102C>G protEffect EMD:p.Tyr34Stop
EMD:c.106A>T protEffect EMD:p.Lys36Stop
EMD:c.123C>G protEffect EMD:p.Tyr41Stop
EMD:c.130C>T protEffect EMD:p.Gln44Stop
EMD:c.161C>T protEffect EMD:p.Ser54Phe
EMD:c.177T>A protEffect EMD:p.Tyr59Stop
EMD:c.1A>G protEffect EMD:p.Met1Val
EMD:c.215A>T protEffect EMD:p.Asp72Val
EMD:c.256C>T protEffect EMD:p.Gln86Stop
EMD:c.282C>G protEffect EMD:p.Tyr94Stop
EMD:c.2T>C protEffect EMD:p.Met1Thr
EMD:c.2T>G protEffect EMD:p.Met1Arg
EMD:c.315T>G protEffect EMD:p.Tyr105Stop
EMD:c.325G>T protEffect EMD:p.Glu109Stop
EMD:c.397C>T protEffect EMD:p.Gln133Stop
EMD:c.399G>T protEffect EMD:p.Gln133His
EMD:c.3G>A protEffect EMD:p.Met1Ile
EMD:c.430G>T protEffect EMD:p.Glu144Stop
EMD:c.436G>T protEffect EMD:p.Glu146Stop
EMD:c.441C>A protEffect EMD:p.Cys147Stop
EMD:c.445G>C protEffect EMD:p.Asp149His
EMD:c.512C>A protEffect EMD:p.Ser171Stop
EMD:c.543T>G protEffect EMD:p.Tyr181Stop
EMD:c.546T>A protEffect EMD:p.Tyr182Stop
EMD:c.547C>A protEffect EMD:p.Pro183Thr
EMD:c.548C>A protEffect EMD:p.Pro183His
EMD:c.57C>G protEffect EMD:p.Tyr19Stop
EMD:c.600G>A protEffect EMD:p.Trp200Stop
EMD:c.608G>A protEffect EMD:p.Arg203His
EMD:c.655C>T protEffect EMD:p.Gln219Stop
EMD:c.677G>A protEffect EMD:p.Trp226Stop
EMD:c.682C>T protEffect EMD:p.Gln228Stop
EMD:c.684G>T protEffect EMD:p.Gln228His
FHL1:c.302G>T protEffect FHL1:p.Cys101Phe
FHL1:c.310T>C protEffect FHL1:p.Cys104Arg
FHL1:c.365G>C protEffect FHL1:p.Trp122Ser
FHL1:c.367C>T protEffect FHL1:p.His123Tyr
FHL1:c.395G>T protEffect FHL1:p.Cys132Phe
FHL1:c.441C>T protEffect FHL1:p.Asp147Asp
FHL1:c.449G>A protEffect FHL1:p.Cys150Tyr
FHL1:c.457T>C protEffect FHL1:p.Cys153Arg
FHL1:c.458G>A protEffect FHL1:p.Cys153Tyr
FHL1:c.625T>C protEffect FHL1:p.Cys209Arg
FHL1:c.672C>G protEffect FHL1:p.Cys224Trp
FKRP:c.1003G>A protEffect FKRP:p.Ala335Thr
FKRP:c.1012G>A protEffect FKRP:p.Val338Met
FKRP:c.1016G>A protEffect FKRP:p.Arg339His
FKRP:c.1016G>T protEffect FKRP:p.Arg339Leu
FKRP:c.1021T>C protEffect FKRP:p.Trp341Arg
FKRP:c.1023G>A protEffect FKRP:p.Trp341Stop
FKRP:c.1034G>C protEffect FKRP:p.Gly345Ala
FKRP:c.1054C>G protEffect FKRP:p.Arg352Gly
FKRP:c.1073C>T protEffect FKRP:p.Pro358Leu
FKRP:c.1078G>A protEffect FKRP:p.Asp360Asn
FKRP:c.1078G>C protEffect FKRP:p.Asp360His
FKRP:c.1087G>T protEffect FKRP:p.Val363Leu
FKRP:c.1088T>G protEffect FKRP:p.Val363Gly
FKRP:c.1117G>A protEffect FKRP:p.Gly373Ser
FKRP:c.1154C>A protEffect FKRP:p.Ser385Stop
FKRP:c.1164T>C protEffect FKRP:p.Asp388Asp
FKRP:c.1171G>A protEffect FKRP:p.Gly391Ser
FKRP:c.1171G>C protEffect FKRP:p.Gly391Arg
FKRP:c.1188G>A protEffect FKRP:p.Lys396Lys
FKRP:c.1201G>A protEffect FKRP:p.Asp401Asn
FKRP:c.1210C>T protEffect FKRP:p.Arg404Cys
FKRP:c.1213G>T protEffect FKRP:p.Val405Leu
FKRP:c.1216C>T protEffect FKRP:p.Gln406Stop
FKRP:c.1219T>G protEffect FKRP:p.Tyr407Asp
FKRP:c.1224C>T protEffect FKRP:p.Ser408Ser
FKRP:c.1242C>T protEffect FKRP:p.His414His
FKRP:c.1253G>A protEffect FKRP:p.Trp418Stop
FKRP:c.1314T>G protEffect FKRP:p.Asp438Glu
FKRP:c.1318G>T protEffect FKRP:p.Glu440Stop
FKRP:c.1325C>T protEffect FKRP:p.Pro442Leu
FKRP:c.1341G>A protEffect FKRP:p.Gln447Gln
FKRP:c.1343C>T protEffect FKRP:p.Pro448Leu
FKRP:c.135C>T protEffect FKRP:p.Ala45Ala
FKRP:c.1364C>A protEffect FKRP:p.Ala455Asp
FKRP:c.1378C>T protEffect FKRP:p.Gln460Stop
FKRP:c.1384C>T protEffect FKRP:p.Pro462Ser
FKRP:c.1387A>G protEffect FKRP:p.Asn463Asp
FKRP:c.1394A>C protEffect FKRP:p.Tyr465Ser
FKRP:c.1405C>T protEffect FKRP:p.Leu469Leu
FKRP:c.1415A>C protEffect FKRP:p.Lys472Thr
FKRP:c.1433T>C protEffect FKRP:p.Ile478Thr
FKRP:c.1486T>A protEffect FKRP:p.Stop496Arg
FKRP:c.155T>A protEffect FKRP:p.Leu52Gln
FKRP:c.160C>T protEffect FKRP:p.Arg54Trp
FKRP:c.163G>C protEffect FKRP:p.Glu55Gln
FKRP:c.192C>T protEffect FKRP:p.Pro64Pro
FKRP:c.1A>G protEffect FKRP:p.Met1Val
FKRP:c.201A>G protEffect FKRP:p.Val67Val
FKRP:c.206C>A protEffect FKRP:p.Ser69Tyr
FKRP:c.211C>G protEffect FKRP:p.Leu71Val
FKRP:c.214C>T protEffect FKRP:p.Gln72Stop
FKRP:c.235G>A protEffect FKRP:p.Val79Met
FKRP:c.249C>T protEffect FKRP:p.Ala83Ala
FKRP:c.265C>G protEffect FKRP:p.Pro89Ala
FKRP:c.266C>G protEffect FKRP:p.Pro89Arg
FKRP:c.266C>T protEffect FKRP:p.Pro89Leu
FKRP:c.275C>G protEffect FKRP:p.Ala92Gly
FKRP:c.278T>C protEffect FKRP:p.Leu93Pro
FKRP:c.280C>T protEffect FKRP:p.Pro94Ser
FKRP:c.283C>T protEffect FKRP:p.Arg95Cys
FKRP:c.313C>T protEffect FKRP:p.Gln105Stop
FKRP:c.328C>T protEffect FKRP:p.Arg110Trp
FKRP:c.329G>C protEffect FKRP:p.Arg110Pro
FKRP:c.341C>G protEffect FKRP:p.Ala114Gly
FKRP:c.344C>T protEffect FKRP:p.Ser115Leu
FKRP:c.362T>A protEffect FKRP:p.Val121Glu
FKRP:c.374T>C protEffect FKRP:p.Phe125Ser
FKRP:c.3G>T protEffect FKRP:p.Met1Ile
FKRP:c.400C>T protEffect FKRP:p.Arg134Trp
FKRP:c.427C>A protEffect FKRP:p.Arg143Ser
FKRP:c.430A>G protEffect FKRP:p.Met144Val
FKRP:c.437A>C protEffect FKRP:p.Glu146Ala
FKRP:c.456C>G protEffect FKRP:p.Ser152Arg
FKRP:c.469G>C protEffect FKRP:p.Ala157Pro
FKRP:c.478G>T protEffect FKRP:p.Val160Phe
FKRP:c.496G>T protEffect FKRP:p.Ala166Ser
FKRP:c.499A>G protEffect FKRP:p.Arg167Gly
FKRP:c.520A>T protEffect FKRP:p.Ser174Cys
FKRP:c.535A>C protEffect FKRP:p.Thr179Pro
FKRP:c.545A>G protEffect FKRP:p.Tyr182Cys
FKRP:c.567C>T protEffect FKRP:p.Pro189Pro
FKRP:c.585C>T protEffect FKRP:p.Asp195Asp
FKRP:c.586G>A protEffect FKRP:p.Gly196Arg
FKRP:c.586G>C protEffect FKRP:p.Gly196Arg
FKRP:c.605T>A protEffect FKRP:p.Leu202Gln
FKRP:c.606G>A protEffect FKRP:p.Leu202Leu
FKRP:c.632C>T protEffect FKRP:p.Ser211Leu
FKRP:c.636G>A protEffect FKRP:p.Ala212Ala
FKRP:c.638C>T protEffect FKRP:p.Pro213Leu
FKRP:c.63C>A protEffect FKRP:p.Leu21Leu
FKRP:c.63C>T protEffect FKRP:p.Leu21Leu
FKRP:c.648G>A protEffect FKRP:p.Arg216Arg
FKRP:c.649C>A protEffect FKRP:p.Pro217Thr
FKRP:c.654G>A protEffect FKRP:p.Val218Val
FKRP:c.663C>A protEffect FKRP:p.Ser221Arg
FKRP:c.731G>A protEffect FKRP:p.Arg244His
FKRP:c.740C>A protEffect FKRP:p.Pro247Gln
FKRP:c.745G>A protEffect FKRP:p.Ala249Thr
FKRP:c.764G>A protEffect FKRP:p.Trp255Stop
FKRP:c.823C>T protEffect FKRP:p.Arg275Cys
FKRP:c.826C>A protEffect FKRP:p.Leu276Ile
FKRP:c.836G>A protEffect FKRP:p.Trp279Stop
FKRP:c.854A>C protEffect FKRP:p.Glu285Ala
FKRP:c.878C>T protEffect FKRP:p.Thr293Ile
FKRP:c.898G>A protEffect FKRP:p.Val300Met
FKRP:c.899T>C protEffect FKRP:p.Val300Ala
FKRP:c.914C>T protEffect FKRP:p.Pro305Leu
FKRP:c.919T>A protEffect FKRP:p.Tyr307Asn
FKRP:c.926A>G protEffect FKRP:p.Tyr309Cys
FKRP:c.928G>T protEffect FKRP:p.Glu310Stop
FKRP:c.934C>T protEffect FKRP:p.Arg312Cys
FKRP:c.940A>C protEffect FKRP:p.Thr314Pro
FKRP:c.941C>T protEffect FKRP:p.Thr314Met
FKRP:c.946C>A protEffect FKRP:p.Pro316Thr
FKRP:c.946C>T protEffect FKRP:p.Pro316Ser
FKRP:c.947C>G protEffect FKRP:p.Pro316Arg
FKRP:c.953G>A protEffect FKRP:p.Cys318Tyr
FKRP:c.956T>G protEffect FKRP:p.Leu319Arg
FKRP:c.962C>A protEffect FKRP:p.Ala321Glu
FKRP:c.968G>A protEffect FKRP:p.Arg323His
FKRP:c.983A>C protEffect FKRP:p.Tyr328Ser
GK:c.1091G>A protEffect GK:p.Cys364Tyr
GK:c.1212A>C protEffect GK:p.Glu404Asp
GK:c.1225C>T protEffect GK:p.Gln409Stop
GK:c.1232G>A protEffect GK:p.Arg411Gln
GK:c.1255C>T protEffect GK:p.Arg419Stop
GK:c.1301T>C protEffect GK:p.Met434Thr
GK:c.1331A>G protEffect GK:p.Gln444Arg
GK:c.1337A>T protEffect GK:p.Asp446Val
GK:c.1525T>C protEffect GK:p.Trp509Arg
GK:c.165G>A protEffect GK:p.Gln55Gln
GK:c.182T>C protEffect GK:p.Leu61Pro
GK:c.287C>T protEffect GK:p.Thr96Ile
GK:c.593A>G protEffect GK:p.Asp198Gly
GK:c.601A>G protEffect GK:p.Asn201Asp
GK:c.784T>C protEffect GK:p.Cys262Arg
GK:c.851C>T protEffect GK:p.Thr284Met
GK:c.857G>C protEffect GK:p.Gly286Ala
GK:c.880A>G protEffect GK:p.Asn294Asp
GK:c.932C>T protEffect GK:p.Ala311Val
GK:c.946A>T protEffect GK:p.Arg316Stop
LAMA2:c.1076T>C protEffect LAMA2:p.Val359Ala
LAMA2:c.1177T>G protEffect LAMA2:p.Cys393Gly
LAMA2:c.1182T>A protEffect LAMA2:p.Thr394Thr
LAMA2:c.1303C>T protEffect LAMA2:p.Arg435Stop
LAMA2:c.1326T>G protEffect LAMA2:p.Cys442Trp
LAMA2:c.1419G>A protEffect LAMA2:p.Gly473Gly
LAMA2:c.1491T>C protEffect LAMA2:p.Cys497Cys
LAMA2:c.156C>T protEffect LAMA2:p.Ile52Ile
LAMA2:c.1580G>A protEffect LAMA2:p.Cys527Tyr
LAMA2:c.1634T>A protEffect LAMA2:p.Leu545Gln
LAMA2:c.1669C>T protEffect LAMA2:p.Gln557Stop
LAMA2:c.1798G>A protEffect LAMA2:p.Gly600Arg
LAMA2:c.1856G>A protEffect LAMA2:p.Arg619His
LAMA2:c.1884G>A protEffect LAMA2:p.Glu628Glu
LAMA2:c.1976C>A protEffect LAMA2:p.Ser659Stop
LAMA2:c.2017G>T protEffect LAMA2:p.Glu673Stop
LAMA2:c.2054T>C protEffect LAMA2:p.Leu685Pro
LAMA2:c.2178C>A protEffect LAMA2:p.Cys726Stop
LAMA2:c.2230C>T protEffect LAMA2:p.Arg744Stop
LAMA2:c.2235T>A protEffect LAMA2:p.Val745Val
LAMA2:c.2295C>A protEffect LAMA2:p.Ser765Ser
LAMA2:c.2370T>A protEffect LAMA2:p.Pro790Pro
LAMA2:c.2383G>T protEffect LAMA2:p.Glu795Stop
LAMA2:c.2461A>C protEffect LAMA2:p.Thr821Pro
LAMA2:c.2550C>G protEffect LAMA2:p.Gly850Gly
LAMA2:c.2576G>T protEffect LAMA2:p.Gly859Val
LAMA2:c.257G>A protEffect LAMA2:p.Cys86Tyr
LAMA2:c.2584T>C protEffect LAMA2:p.Cys862Arg
LAMA2:c.2631C>G protEffect LAMA2:p.Gly877Gly
LAMA2:c.2756G>T protEffect LAMA2:p.Arg919Leu
LAMA2:c.2799A>G protEffect LAMA2:p.Gln933Gln
LAMA2:c.283C>T protEffect LAMA2:p.Gln95Stop
LAMA2:c.2901C>A protEffect LAMA2:p.Cys967Stop
LAMA2:c.2907C>A protEffect LAMA2:p.Cys969Stop
LAMA2:c.2954G>A protEffect LAMA2:p.Cys985Tyr
LAMA2:c.2962C>T protEffect LAMA2:p.Gln988Stop
LAMA2:c.2986T>C protEffect LAMA2:p.Cys996Arg
LAMA2:c.2T>C protEffect LAMA2:p.Met1Thr
LAMA2:c.3039T>G protEffect LAMA2:p.Ala1013Ala
LAMA2:c.3085C>T protEffect LAMA2:p.Arg1029Stop
LAMA2:c.3099T>A protEffect LAMA2:p.Pro1033Pro
LAMA2:c.3135A>G protEffect LAMA2:p.Ala1045Ala
LAMA2:c.3154A>G protEffect LAMA2:p.Ser1052Gly
LAMA2:c.3412G>A protEffect LAMA2:p.Val1138Met
LAMA2:c.3472A>T protEffect LAMA2:p.Lys1158Stop
LAMA2:c.35T>G protEffect LAMA2:p.Leu12Arg
LAMA2:c.363C>A protEffect LAMA2:p.Tyr121Stop
LAMA2:c.3718C>T protEffect LAMA2:p.Gln1240Stop
LAMA2:c.3719A>T protEffect LAMA2:p.Gln1240Leu
LAMA2:c.381C>A protEffect LAMA2:p.Thr127Thr
LAMA2:c.3829C>T protEffect LAMA2:p.Arg1277Stop
LAMA2:c.3832G>T protEffect LAMA2:p.Gly1278Cys
LAMA2:c.391C>T protEffect LAMA2:p.Gln131Stop
LAMA2:c.3930A>G protEffect LAMA2:p.Glu1310Glu
LAMA2:c.3976C>T protEffect LAMA2:p.Arg1326Stop
LAMA2:c.4002T>G protEffect LAMA2:p.Tyr1334Stop
LAMA2:c.4035T>G protEffect LAMA2:p.Tyr1345Stop
LAMA2:c.4048C>T protEffect LAMA2:p.Arg1350Stop
LAMA2:c.411G>A protEffect LAMA2:p.Ala137Ala
LAMA2:c.412T>C protEffect LAMA2:p.Tyr138His
LAMA2:c.4198C>T protEffect LAMA2:p.Arg1400Stop
LAMA2:c.4309C>T protEffect LAMA2:p.Gln1437Stop
LAMA2:c.4318C>T protEffect LAMA2:p.Gln1440Stop
LAMA2:c.4348C>T protEffect LAMA2:p.Arg1450Stop
LAMA2:c.437C>T protEffect LAMA2:p.Ser146Phe
LAMA2:c.4405T>C protEffect LAMA2:p.Cys1469Arg
LAMA2:c.4407T>C protEffect LAMA2:p.Cys1469Cys
LAMA2:c.4446C>T protEffect LAMA2:p.Pro1482Pro
LAMA2:c.4523G>A protEffect LAMA2:p.Arg1508Lys
LAMA2:c.454T>G protEffect LAMA2:p.Trp152Gly
LAMA2:c.4638C>A protEffect LAMA2:p.Cys1546Stop
LAMA2:c.4645C>T protEffect LAMA2:p.Arg1549Stop
LAMA2:c.4654G>A protEffect LAMA2:p.Ala1552Thr
LAMA2:c.4690C>T protEffect LAMA2:p.His1564Tyr
LAMA2:c.470C>T protEffect LAMA2:p.Ser157Phe
LAMA2:c.4750G>A protEffect LAMA2:p.Gly1584Ser
LAMA2:c.4852G>T protEffect LAMA2:p.Glu1618Stop
LAMA2:c.4956C>G protEffect LAMA2:p.Thr1652Thr
LAMA2:c.498G>A protEffect LAMA2:p.Trp166Stop
LAMA2:c.500A>C protEffect LAMA2:p.Gln167Pro
LAMA2:c.5116C>T protEffect LAMA2:p.Arg1706Stop
LAMA2:c.5382A>T protEffect LAMA2:p.Thr1794Thr
LAMA2:c.5466A>G protEffect LAMA2:p.Glu1822Glu
LAMA2:c.5476C>T protEffect LAMA2:p.Arg1826Stop
LAMA2:c.5502G>A protEffect LAMA2:p.Glu1834Glu
LAMA2:c.5530C>A protEffect LAMA2:p.Arg1844Ser
LAMA2:c.5714C>G protEffect LAMA2:p.Ala1905Gly
LAMA2:c.5914C>T protEffect LAMA2:p.Gln1972Stop
LAMA2:c.6153A>T protEffect LAMA2:p.Val2051Val
LAMA2:c.6207C>A protEffect LAMA2:p.Tyr2069Stop
LAMA2:c.6237G>A protEffect LAMA2:p.Thr2079Thr
LAMA2:c.6279C>T protEffect LAMA2:p.Ala2093Ala
LAMA2:c.628G>T protEffect LAMA2:p.Glu210Stop
LAMA2:c.6450A>T protEffect LAMA2:p.Ser2150Ser
LAMA2:c.6459C>T protEffect LAMA2:p.Asp2153Asp
LAMA2:c.6548T>G protEffect LAMA2:p.Leu2183Arg
LAMA2:c.6690C>A protEffect LAMA2:p.Tyr2230Stop
LAMA2:c.6706A>C protEffect LAMA2:p.Arg2236Arg
LAMA2:c.6948G>A protEffect LAMA2:p.Trp2316Stop
LAMA2:c.6955C>T protEffect LAMA2:p.Arg2319Stop
LAMA2:c.7071G>A protEffect LAMA2:p.Trp2357Stop
LAMA2:c.7074C>A protEffect LAMA2:p.Tyr2358Stop
LAMA2:c.7147C>T protEffect LAMA2:p.Arg2383Stop
LAMA2:c.728T>C protEffect LAMA2:p.Leu243Pro
LAMA2:c.7297C>T protEffect LAMA2:p.Gln2433Stop
LAMA2:c.7395T>C protEffect LAMA2:p.Asp2465Asp
LAMA2:c.7431A>T protEffect LAMA2:p.Arg2477Ser
LAMA2:c.745C>T protEffect LAMA2:p.Arg249Cys
LAMA2:c.7571A>T protEffect LAMA2:p.Glu2524Val
LAMA2:c.7614G>A protEffect LAMA2:p.Glu2538Glu
LAMA2:c.7620C>G protEffect LAMA2:p.Ser2540Ser
LAMA2:c.7661T>C protEffect LAMA2:p.Phe2554Ser
LAMA2:c.7681G>A protEffect LAMA2:p.Gly2561Ser
LAMA2:c.7691T>C protEffect LAMA2:p.Leu2564Pro
LAMA2:c.7732C>T protEffect LAMA2:p.Arg2578Stop
LAMA2:c.7756T>C protEffect LAMA2:p.Tyr2586His
LAMA2:c.7810C>T protEffect LAMA2:p.Arg2604Stop
LAMA2:c.7830G>C protEffect LAMA2:p.Val2610Val
LAMA2:c.7840G>A protEffect LAMA2:p.Glu2614Lys
LAMA2:c.7845G>A protEffect LAMA2:p.Pro2615Pro
LAMA2:c.7881T>G protEffect LAMA2:p.His2627Gln
LAMA2:c.7906A>G protEffect LAMA2:p.Thr2636Ala
LAMA2:c.7929A>G protEffect LAMA2:p.Arg2643Arg
LAMA2:c.8124T>A protEffect LAMA2:p.Gly2708Gly
LAMA2:c.817A>T protEffect LAMA2:p.Arg273Stop
LAMA2:c.818G>A protEffect LAMA2:p.Arg273Lys
LAMA2:c.82C>T protEffect LAMA2:p.Gln28Stop
LAMA2:c.846A>T protEffect LAMA2:p.Ser282Ser
LAMA2:c.850G>A protEffect LAMA2:p.Gly284Arg
LAMA2:c.855G>T protEffect LAMA2:p.Gly285Gly
LAMA2:c.8586T>C protEffect LAMA2:p.Tyr2862Tyr
LAMA2:c.8665G>A protEffect LAMA2:p.Gly2889Arg
LAMA2:c.8691A>G protEffect LAMA2:p.Arg2897Arg
LAMA2:c.8925A>T protEffect LAMA2:p.Gly2975Gly
LAMA2:c.9253C>T protEffect LAMA2:p.Arg3085Stop
LAMA2:c.94C>T protEffect LAMA2:p.Gln32Stop
LAMA2:c.981G>A protEffect LAMA2:p.Gln327Gln
LAMA2:c.991A>T protEffect LAMA2:p.Arg331Stop
LARGE:c.1092C>T protEffect LARGE:p.Thr364Thr
LARGE:c.1431C>T protEffect LARGE:p.Val477Val
LARGE:c.1483T>C protEffect LARGE:p.Trp495Arg
LARGE:c.1525G>A protEffect LARGE:p.Glu509Lys
LARGE:c.1548C>G protEffect LARGE:p.Tyr516Stop
LARGE:c.1640G>A protEffect LARGE:p.Arg547His
LARGE:c.16A>C protEffect LARGE:p.Arg6Arg
LARGE:c.1827A>T protEffect LARGE:p.Ser609Ser
LARGE:c.1994G>A protEffect LARGE:p.Arg665His
LARGE:c.2100C>T protEffect LARGE:p.Asn700Asn
LARGE:c.211G>A protEffect LARGE:p.Glu71Lys
LARGE:c.309C>A protEffect LARGE:p.Ser103Ser
LARGE:c.435C>T protEffect LARGE:p.Ala145Ala
LARGE:c.552G>A protEffect LARGE:p.Thr184Thr
LARGE:c.862T>C protEffect LARGE:p.Trp288Arg
LARGE:c.992C>T protEffect LARGE:p.Ser331Phe
LMNA:c.1003C>T protEffect LMNA:p.Arg335Trp
LMNA:c.1007G>A protEffect LMNA:p.Arg336Gln
LMNA:c.1022A>C protEffect LMNA:p.Lys341Thr
LMNA:c.1027C>T protEffect LMNA:p.Arg343Trp
LMNA:c.1028G>A protEffect LMNA:p.Arg343Gln
LMNA:c.1039G>A protEffect LMNA:p.Glu347Lys
LMNA:c.103C>G protEffect LMNA:p.Leu35Val
LMNA:c.1048G>C protEffect LMNA:p.Ala350Pro
LMNA:c.1063C>T protEffect LMNA:p.Gln355Stop
LMNA:c.1067T>G protEffect LMNA:p.Leu356Arg
LMNA:c.1072G>A protEffect LMNA:p.Glu358Lys
LMNA:c.1098G>A protEffect LMNA:p.Lys366Lys
LMNA:c.1112T>A protEffect LMNA:p.Met371Lys
LMNA:c.1129C>T protEffect LMNA:p.Arg377Cys
LMNA:c.1130G>A protEffect LMNA:p.Arg377His
LMNA:c.1130G>T protEffect LMNA:p.Arg377Leu
LMNA:c.1144G>C protEffect LMNA:p.Gly382Arg
LMNA:c.1146C>T protEffect LMNA:p.Gly382Gly
LMNA:c.1157G>A protEffect LMNA:p.Arg386Lys
LMNA:c.1163G>A protEffect LMNA:p.Arg388His
LMNA:c.1163G>C protEffect LMNA:p.Arg388Pro
LMNA:c.1195C>T protEffect LMNA:p.Arg399Cys
LMNA:c.1201C>T protEffect LMNA:p.Arg401Cys
LMNA:c.127G>A protEffect LMNA:p.Ala43Thr
LMNA:c.1294C>T protEffect LMNA:p.Gln432Stop
LMNA:c.1299C>T protEffect LMNA:p.His433His
LMNA:c.1303C>T protEffect LMNA:p.Arg435Cys
LMNA:c.130G>T protEffect LMNA:p.Val44Phe
LMNA:c.1318G>A protEffect LMNA:p.Val440Met
LMNA:c.1337A>T protEffect LMNA:p.Asp446Val
LMNA:c.1338T>C protEffect LMNA:p.Asp446Asp
LMNA:c.134A>G protEffect LMNA:p.Tyr45Cys
LMNA:c.1357C>T protEffect LMNA:p.Arg453Trp
LMNA:c.1368C>A protEffect LMNA:p.Asn456Lys
LMNA:c.1375A>T protEffect LMNA:p.Asn459Tyr
LMNA:c.1394G>A protEffect LMNA:p.Gly465Asp
LMNA:c.1396A>G protEffect LMNA:p.Asn466Asp
LMNA:c.139G>C protEffect LMNA:p.Asp47His
LMNA:c.1406T>C protEffect LMNA:p.Ile469Thr
LMNA:c.1411C>G protEffect LMNA:p.Arg471Gly
LMNA:c.1411C>T protEffect LMNA:p.Arg471Cys
LMNA:c.1412G>A protEffect LMNA:p.Arg471His
LMNA:c.1441T>C protEffect LMNA:p.Tyr481His
LMNA:c.1444C>T protEffect LMNA:p.Arg482Trp
LMNA:c.1445G>A protEffect LMNA:p.Arg482Gln
LMNA:c.1445G>T protEffect LMNA:p.Arg482Leu
LMNA:c.1458G>C protEffect LMNA:p.Lys486Asn
LMNA:c.1458G>T protEffect LMNA:p.Lys486Asn
LMNA:c.1486A>C protEffect LMNA:p.Thr496Pro
LMNA:c.148C>A protEffect LMNA:p.Arg50Ser
LMNA:c.1494G>C protEffect LMNA:p.Trp498Cys
LMNA:c.1494G>T protEffect LMNA:p.Trp498Cys
LMNA:c.149G>C protEffect LMNA:p.Arg50Pro
LMNA:c.1535T>C protEffect LMNA:p.Leu512Pro
LMNA:c.1551G>A protEffect LMNA:p.Gln517Gln
LMNA:c.1559G>C protEffect LMNA:p.Trp520Ser
LMNA:c.155T>C protEffect LMNA:p.Leu52Pro
LMNA:c.1579C>T protEffect LMNA:p.Arg527Cys
LMNA:c.1580G>A protEffect LMNA:p.Arg527His
LMNA:c.1580G>C protEffect LMNA:p.Arg527Pro
LMNA:c.1583C>A protEffect LMNA:p.Thr528Lys
LMNA:c.1583C>G protEffect LMNA:p.Thr528Arg
LMNA:c.1583C>T protEffect LMNA:p.Thr528Met
LMNA:c.1586C>T protEffect LMNA:p.Ala529Val
LMNA:c.1589T>C protEffect LMNA:p.Leu530Pro
LMNA:c.158A>T protEffect LMNA:p.Glu53Val
LMNA:c.1619T>C protEffect LMNA:p.Met540Thr
LMNA:c.1621C>T protEffect LMNA:p.Arg541Cys
LMNA:c.1622G>A protEffect LMNA:p.Arg541His
LMNA:c.1626G>C protEffect LMNA:p.Lys542Asn
LMNA:c.1683G>C protEffect LMNA:p.Leu561Leu
LMNA:c.1698C>T protEffect LMNA:p.His566His
LMNA:c.169G>C protEffect LMNA:p.Ala57Pro
LMNA:c.16C>T protEffect LMNA:p.Gln6Stop
LMNA:c.1718C>T protEffect LMNA:p.Ser573Leu
LMNA:c.1731T>C protEffect LMNA:p.Ala577Ala
LMNA:c.1733A>T protEffect LMNA:p.Glu578Val
LMNA:c.1745G>A protEffect LMNA:p.Arg582His
LMNA:c.1748C>T protEffect LMNA:p.Ser583Leu
LMNA:c.1751G>A protEffect LMNA:p.Arg584His
LMNA:c.1761G>A protEffect LMNA:p.Leu587Leu
LMNA:c.176T>G protEffect LMNA:p.Leu59Arg
LMNA:c.1772G>T protEffect LMNA:p.Cys591Phe
LMNA:c.1786G>A protEffect LMNA:p.Asp596Asn
LMNA:c.178C>G protEffect LMNA:p.Arg60Gly
LMNA:c.1821G>A protEffect LMNA:p.Val607Val
LMNA:c.1822G>A protEffect LMNA:p.Gly608Ser
LMNA:c.1824C>T protEffect LMNA:p.Gly608Gly
LMNA:c.184C>G protEffect LMNA:p.Arg62Gly
LMNA:c.1851C>T protEffect LMNA:p.Ala617Ala
LMNA:c.1868C>G protEffect LMNA:p.Thr623Ser
LMNA:c.1871G>A protEffect LMNA:p.Arg624His
LMNA:c.1871G>T protEffect LMNA:p.Arg624Leu
LMNA:c.188T>A protEffect LMNA:p.Ile63Asn
LMNA:c.188T>G protEffect LMNA:p.Ile63Ser
LMNA:c.1904G>A protEffect LMNA:p.Gly635Asp
LMNA:c.1930C>T protEffect LMNA:p.Arg644Cys
LMNA:c.1931G>A protEffect LMNA:p.Arg644His
LMNA:c.194A>G protEffect LMNA:p.Glu65Gly
LMNA:c.1960C>T protEffect LMNA:p.Arg654Stop
LMNA:c.244G>A protEffect LMNA:p.Glu82Lys
LMNA:c.254T>G protEffect LMNA:p.Leu85Arg
LMNA:c.266G>T protEffect LMNA:p.Arg89Leu
LMNA:c.273C>A protEffect LMNA:p.Thr91Thr
LMNA:c.289A>G protEffect LMNA:p.Lys97Glu
LMNA:c.29C>T protEffect LMNA:p.Thr10Ile
LMNA:c.302G>C protEffect LMNA:p.Arg101Pro
LMNA:c.331G>T protEffect LMNA:p.Glu111Stop
LMNA:c.357C>T protEffect LMNA:p.Arg119Arg
LMNA:c.398G>C protEffect LMNA:p.Arg133Pro
LMNA:c.398G>T protEffect LMNA:p.Arg133Leu
LMNA:c.3G>T protEffect LMNA:p.Met1Ile
LMNA:c.407A>G protEffect LMNA:p.Asp136Gly
LMNA:c.412G>A protEffect LMNA:p.Glu138Lys
LMNA:c.419T>C protEffect LMNA:p.Leu140Pro
LMNA:c.419T>G protEffect LMNA:p.Leu140Arg
LMNA:c.428C>T protEffect LMNA:p.Ser143Phe
LMNA:c.433G>A protEffect LMNA:p.Glu145Lys
LMNA:c.448A>C protEffect LMNA:p.Thr150Pro
LMNA:c.471G>A protEffect LMNA:p.Thr157Thr
LMNA:c.481G>A protEffect LMNA:p.Glu161Lys
LMNA:c.497G>C protEffect LMNA:p.Arg166Pro
LMNA:c.513G>A protEffect LMNA:p.Lys171Lys
LMNA:c.51C>T protEffect LMNA:p.Ser17Ser
LMNA:c.556G>A protEffect LMNA:p.Glu186Lys
LMNA:c.568C>T protEffect LMNA:p.Arg190Trp
LMNA:c.569G>A protEffect LMNA:p.Arg190Gln
LMNA:c.583A>G protEffect LMNA:p.Asn195Asp
LMNA:c.585C>G protEffect LMNA:p.Asn195Lys
LMNA:c.5A>G protEffect LMNA:p.Glu2Gly
LMNA:c.607G>A protEffect LMNA:p.Glu203Lys
LMNA:c.608A>G protEffect LMNA:p.Glu203Gly
LMNA:c.612G>A protEffect LMNA:p.Leu204Leu
LMNA:c.629T>G protEffect LMNA:p.Ile210Ser
LMNA:c.644T>C protEffect LMNA:p.Leu215Pro
LMNA:c.65C>T protEffect LMNA:p.Ser22Leu
LMNA:c.664C>T protEffect LMNA:p.His222Tyr
LMNA:c.665A>C protEffect LMNA:p.His222Pro
LMNA:c.673C>T protEffect LMNA:p.Arg225Stop
LMNA:c.688G>A protEffect LMNA:p.Asp230Asn
LMNA:c.691A>C protEffect LMNA:p.Asn231His
LMNA:c.694G>A protEffect LMNA:p.Gly232Arg
LMNA:c.695G>A protEffect LMNA:p.Gly232Glu
LMNA:c.700C>T protEffect LMNA:p.Gln234Stop
LMNA:c.73C>G protEffect LMNA:p.Arg25Gly
LMNA:c.743T>C protEffect LMNA:p.Leu248Pro
LMNA:c.745C>T protEffect LMNA:p.Arg249Trp
LMNA:c.746G>A protEffect LMNA:p.Arg249Gln
LMNA:c.74G>C protEffect LMNA:p.Arg25Pro
LMNA:c.775T>G protEffect LMNA:p.Tyr259Asp
LMNA:c.777T>A protEffect LMNA:p.Tyr259Stop
LMNA:c.77T>G protEffect LMNA:p.Ile26Ser
LMNA:c.780G>C protEffect LMNA:p.Lys260Asn
LMNA:c.784G>A protEffect LMNA:p.Glu262Lys
LMNA:c.788T>C protEffect LMNA:p.Leu263Pro
LMNA:c.799T>C protEffect LMNA:p.Tyr267His
LMNA:c.800A>G protEffect LMNA:p.Tyr267Cys
LMNA:c.80C>T protEffect LMNA:p.Thr27Ile
LMNA:c.812T>C protEffect LMNA:p.Leu271Pro
LMNA:c.82C>T protEffect LMNA:p.Arg28Trp
LMNA:c.832G>A protEffect LMNA:p.Ala278Thr
LMNA:c.832G>C protEffect LMNA:p.Ala278Pro
LMNA:c.83G>A protEffect LMNA:p.Arg28Gln
LMNA:c.861T>C protEffect LMNA:p.Ala287Ala
LMNA:c.881A>C protEffect LMNA:p.Gln294Pro
LMNA:c.883T>C protEffect LMNA:p.Ser295Pro
LMNA:c.892C>T protEffect LMNA:p.Arg298Cys
LMNA:c.895A>G protEffect LMNA:p.Ile299Val
LMNA:c.899A>G protEffect LMNA:p.Asp300Gly
LMNA:c.936G>C protEffect LMNA:p.Gln312His
LMNA:c.949G>A protEffect LMNA:p.Glu317Lys
LMNA:c.952G>A protEffect LMNA:p.Ala318Thr
LMNA:c.961C>T protEffect LMNA:p.Arg321Stop
LMNA:c.976T>A protEffect LMNA:p.Ser326Thr
LMNA:c.98A>G protEffect LMNA:p.Glu33Gly
LMNA:c.992G>A protEffect LMNA:p.Arg331Gln
LMNA:c.99G>T protEffect LMNA:p.Glu33Asp
MSTN:c.163G>A protEffect MSTN:p.Ala55Thr
MSTN:c.180C>T protEffect MSTN:p.Ile60Ile
MSTN:c.194G>A protEffect MSTN:p.Arg65His
MSTN:c.283G>C protEffect MSTN:p.Asp95His
MSTN:c.306C>T protEffect MSTN:p.Ser102Ser
MSTN:c.307G>A protEffect MSTN:p.Asp103Asn
MSTN:c.386T>G protEffect MSTN:p.Met129Arg
MSTN:c.458A>G protEffect MSTN:p.Lys153Arg
MSTN:c.466C>A protEffect MSTN:p.Leu156Ile
MSTN:c.490G>A protEffect MSTN:p.Glu164Lys
MSTN:c.554G>C protEffect MSTN:p.Arg185Thr
MSTN:c.592C>G protEffect MSTN:p.Pro198Ala
MSTN:c.674T>C protEffect MSTN:p.Ile225Thr
MTM1:c.1037G>C protEffect MTM1:p.Trp346Ser
MTM1:c.1038G>T protEffect MTM1:p.Trp346Cys
MTM1:c.1067G>A protEffect MTM1:p.Gly356Glu
MTM1:c.1091T>G protEffect MTM1:p.Val364Gly
MTM1:c.1097C>G protEffect MTM1:p.Ser366Stop
MTM1:c.109C>T protEffect MTM1:p.Arg37Stop
MTM1:c.1120C>G protEffect MTM1:p.His374Asp
MTM1:c.1127G>A protEffect MTM1:p.Ser376Asn
MTM1:c.1132G>A protEffect MTM1:p.Gly378Arg
MTM1:c.1133G>A protEffect MTM1:p.Gly378Glu
MTM1:c.1137G>A protEffect MTM1:p.Trp379Stop
MTM1:c.1160C>A protEffect MTM1:p.Ser387Tyr
MTM1:c.1160C>T protEffect MTM1:p.Ser387Phe
MTM1:c.1166C>A protEffect MTM1:p.Ala389Asp
MTM1:c.1172T>C protEffect MTM1:p.Leu391Pro
MTM1:c.1190A>G protEffect MTM1:p.Tyr397Cys
MTM1:c.1204G>A protEffect MTM1:p.Gly402Arg
MTM1:c.1205G>C protEffect MTM1:p.Gly402Ala
MTM1:c.1205G>T protEffect MTM1:p.Gly402Val
MTM1:c.1210G>A protEffect MTM1:p.Glu404Lys
MTM1:c.1217T>C protEffect MTM1:p.Leu406Pro
MTM1:c.1223A>C protEffect MTM1:p.Gln408Pro
MTM1:c.1228G>A protEffect MTM1:p.Glu410Lys
MTM1:c.1233G>C protEffect MTM1:p.Trp411Cys
MTM1:c.1234A>G protEffect MTM1:p.Ile412Val
MTM1:c.1241T>C protEffect MTM1:p.Phe414Ser
MTM1:c.1244G>T protEffect MTM1:p.Gly415Val
MTM1:c.1247A>G protEffect MTM1:p.His416Arg
MTM1:c.1254T>C protEffect MTM1:p.Phe418Phe
MTM1:c.1261C>T protEffect MTM1:p.Arg421Stop
MTM1:c.1262G>A protEffect MTM1:p.Arg421Gln
MTM1:c.1291G>A protEffect MTM1:p.Asp431Asn
MTM1:c.1297G>A protEffect MTM1:p.Asp433Asn
MTM1:c.1331G>A protEffect MTM1:p.Cys444Tyr
MTM1:c.1338G>A protEffect MTM1:p.Trp446Stop
MTM1:c.1346C>G protEffect MTM1:p.Ser449Stop
MTM1:c.1353G>A protEffect MTM1:p.Gln451Gln
MTM1:c.1406A>C protEffect MTM1:p.His469Pro
MTM1:c.1409T>C protEffect MTM1:p.Leu470Pro
MTM1:c.1420C>T protEffect MTM1:p.Arg474Stop
MTM1:c.142G>T protEffect MTM1:p.Glu48Stop
MTM1:c.1441A>T protEffect MTM1:p.Asn481Tyr
MTM1:c.1456C>T protEffect MTM1:p.Arg486Stop
MTM1:c.145G>T protEffect MTM1:p.Val49Phe
MTM1:c.1492T>C protEffect MTM1:p.Leu498Leu
MTM1:c.1493T>A protEffect MTM1:p.Leu498Stop
MTM1:c.1495T>C protEffect MTM1:p.Trp499Arg
MTM1:c.1549G>T protEffect MTM1:p.Glu517Stop
MTM1:c.1558C>T protEffect MTM1:p.Arg520Stop
MTM1:c.1569T>A protEffect MTM1:p.Tyr523Stop
MTM1:c.1611C>G protEffect MTM1:p.Tyr537Stop
MTM1:c.1701C>T protEffect MTM1:p.Tyr567Tyr
MTM1:c.1702A>G protEffect MTM1:p.Ile568Val
MTM1:c.181G>T protEffect MTM1:p.Gly61Stop
MTM1:c.184A>T protEffect MTM1:p.Arg62Stop
MTM1:c.1A>G protEffect MTM1:p.Met1Val
MTM1:c.202T>G protEffect MTM1:p.Tyr68Asp
MTM1:c.205C>A protEffect MTM1:p.Arg69Ser
MTM1:c.205C>T protEffect MTM1:p.Arg69Cys
MTM1:c.206G>C protEffect MTM1:p.Arg69Pro
MTM1:c.208C>T protEffect MTM1:p.Leu70Phe
MTM1:c.232G>T protEffect MTM1:p.Asp78Tyr
MTM1:c.260T>C protEffect MTM1:p.Leu87Pro
MTM1:c.27T>A protEffect MTM1:p.Tyr9Stop
MTM1:c.2T>G protEffect MTM1:p.Met1Arg
MTM1:c.321T>A protEffect MTM1:p.Tyr107Stop
MTM1:c.32C>G protEffect MTM1:p.Ser11Stop
MTM1:c.417A>G protEffect MTM1:p.Arg139Arg
MTM1:c.444G>C protEffect MTM1:p.Leu148Leu
MTM1:c.469G>A protEffect MTM1:p.Glu157Lys
MTM1:c.49G>T protEffect MTM1:p.Glu17Stop
MTM1:c.526C>T protEffect MTM1:p.Gln176Stop
MTM1:c.535C>T protEffect MTM1:p.Pro179Ser
MTM1:c.540T>G protEffect MTM1:p.Asn180Lys
MTM1:c.550A>G protEffect MTM1:p.Arg184Gly
MTM1:c.551G>T protEffect MTM1:p.Arg184Ile
MTM1:c.557C>T protEffect MTM1:p.Thr186Ile
MTM1:c.561T>C protEffect MTM1:p.Phe187Phe
MTM1:c.566A>G protEffect MTM1:p.Asn189Ser
MTM1:c.575A>G protEffect MTM1:p.Tyr192Cys
MTM1:c.590C>T protEffect MTM1:p.Thr197Ile
MTM1:c.592T>A protEffect MTM1:p.Tyr198Asn
MTM1:c.594C>A protEffect MTM1:p.Tyr198Stop
MTM1:c.595C>A protEffect MTM1:p.Pro199Thr
MTM1:c.595C>T protEffect MTM1:p.Pro199Ser
MTM1:c.596C>T protEffect MTM1:p.Pro199Leu
MTM1:c.605T>C protEffect MTM1:p.Leu202Ser
MTM1:c.614C>T protEffect MTM1:p.Pro205Leu
MTM1:c.664C>T protEffect MTM1:p.Arg222Stop
MTM1:c.670C>T protEffect MTM1:p.Arg224Stop
MTM1:c.674T>C protEffect MTM1:p.Ile225Thr
MTM1:c.676C>A protEffect MTM1:p.Pro226Thr
MTM1:c.679G>A protEffect MTM1:p.Val227Met
MTM1:c.683T>C protEffect MTM1:p.Leu228Pro
MTM1:c.684G>C protEffect MTM1:p.Leu228Leu
MTM1:c.685T>C protEffect MTM1:p.Ser229Pro
MTM1:c.688T>A protEffect MTM1:p.Trp230Arg
MTM1:c.689G>A protEffect MTM1:p.Trp230Stop
MTM1:c.690G>T protEffect MTM1:p.Trp230Cys
MTM1:c.695A>G protEffect MTM1:p.His232Arg
MTM1:c.70C>T protEffect MTM1:p.Arg24Stop
MTM1:c.721C>T protEffect MTM1:p.Arg241Cys
MTM1:c.722G>T protEffect MTM1:p.Arg241Leu
MTM1:c.757C>T protEffect MTM1:p.Arg253Stop
MTM1:c.779A>C protEffect MTM1:p.Tyr260Ser
MTM1:c.791T>G protEffect MTM1:p.Ile264Ser
MTM1:c.796G>T protEffect MTM1:p.Glu266Stop
MTM1:c.836C>G protEffect MTM1:p.Ala279Gly
MTM1:c.85C>T protEffect MTM1:p.Arg29Stop
MTM1:c.899C>T protEffect MTM1:p.Ala300Val
MTM1:c.950T>G protEffect MTM1:p.Met317Arg
MYL2:c.141C>A protEffect MYL2:p.Asn47Lys
MYL2:c.173G>A protEffect MYL2:p.Arg58Gln
MYL2:c.184A>G protEffect MYL2:p.Lys62Glu
MYL2:c.283C>G protEffect MYL2:p.Pro95Ala
MYL2:c.37G>A protEffect MYL2:p.Ala13Thr
MYL2:c.497A>T protEffect MYL2:p.Asp166Val
MYL2:c.52T>C protEffect MYL2:p.Phe18Leu
MYL2:c.64G>A protEffect MYL2:p.Glu22Lys
NEB:c.10201T>A protEffect NEB:p.Ser3401Thr
NEB:c.10809G>C protEffect NEB:p.Trp3603Cys
NEB:c.11083T>C protEffect NEB:p.Tyr3695His
NEB:c.12905A>T protEffect NEB:p.Asn4302Ile
NEB:c.18676C>T protEffect NEB:p.Gln6226Stop
NEB:c.19097G>T protEffect NEB:p.Ser6366Ile
NEB:c.19913G>C protEffect NEB:p.Arg6638Pro
NEB:c.21790G>C protEffect NEB:p.Asp7264His
NEB:c.22275C>G protEffect NEB:p.Val7425Val
NEB:c.2319C>G protEffect NEB:p.Tyr773Stop
NEB:c.23521C>T protEffect NEB:p.Leu7841Leu
NEB:c.3191A>G protEffect NEB:p.Tyr1064Cys
NEB:c.3390T>G protEffect NEB:p.Tyr1130Stop
NEB:c.410A>G protEffect NEB:p.Tyr137Cys
NEB:c.4834C>A protEffect NEB:p.Arg1612Ser
NEB:c.549C>A protEffect NEB:p.Tyr183Stop
NEB:c.5555T>G protEffect NEB:p.Met1852Arg
NEB:c.5567G>A protEffect NEB:p.Arg1856Gln
NEB:c.5971C>T protEffect NEB:p.His1991Tyr
NEB:c.6069G>A protEffect NEB:p.Met2023Ile
NEB:c.7291G>A protEffect NEB:p.Glu2431Lys
PABPN1:c.35G>C protEffect PABPN1:p.Gly12Ala
POMT2:c.1057G>A protEffect POMT2:p.Gly353Ser
POMT2:c.1064T>C protEffect POMT2:p.Leu355Pro
POMT2:c.1117G>T protEffect POMT2:p.Val373Phe
POMT2:c.1139A>T protEffect POMT2:p.Asp380Val
POMT2:c.1238G>C protEffect POMT2:p.Arg413Pro
POMT2:c.1414A>C protEffect POMT2:p.Ser472Arg
POMT2:c.1445G>T protEffect POMT2:p.Gly482Val
POMT2:c.1484G>C protEffect POMT2:p.Trp495Ser
POMT2:c.161C>A protEffect POMT2:p.Ala54Glu
POMT2:c.162G>T protEffect POMT2:p.Ala54Ala
POMT2:c.1769A>G protEffect POMT2:p.Tyr590Cys
POMT2:c.1881G>A protEffect POMT2:p.Ala627Ala
POMT2:c.1890A>G protEffect POMT2:p.Ala630Ala
POMT2:c.1903G>A protEffect POMT2:p.Val635Ile
POMT2:c.1912C>A protEffect POMT2:p.Arg638Arg
POMT2:c.1912C>T protEffect POMT2:p.Arg638Stop
POMT2:c.1975C>T protEffect POMT2:p.Arg659Trp
POMT2:c.1997A>G protEffect POMT2:p.Tyr666Cys
POMT2:c.2047A>C protEffect POMT2:p.Thr683Pro
POMT2:c.2150T>C protEffect POMT2:p.Phe717Ser
POMT2:c.2176G>A protEffect POMT2:p.Gly726Arg
POMT2:c.2177G>A protEffect POMT2:p.Gly726Glu
POMT2:c.2242T>C protEffect POMT2:p.Trp748Arg
POMT2:c.2243G>C protEffect POMT2:p.Trp748Ser
POMT2:c.287A>G protEffect POMT2:p.Tyr96Cys
POMT2:c.512C>T protEffect POMT2:p.Ser171Leu
POMT2:c.527C>T protEffect POMT2:p.Thr176Ile
POMT2:c.551C>T protEffect POMT2:p.Thr184Met
POMT2:c.586G>T protEffect POMT2:p.Asp196Tyr
POMT2:c.593T>A protEffect POMT2:p.Ile198Asn
POMT2:c.604T>G protEffect POMT2:p.Phe202Val
POMT2:c.796G>A protEffect POMT2:p.Gly266Arg
POMT2:c.807T>G protEffect POMT2:p.Ser269Arg
RYR1:c.10043G>A protEffect RYR1:p.Arg3348His
RYR1:c.10086C>T protEffect RYR1:p.Ile3362Ile
RYR1:c.10097G>A protEffect RYR1:p.Arg3366His
RYR1:c.10100A>G protEffect RYR1:p.Lys3367Arg
RYR1:c.1014C>A protEffect RYR1:p.Ile338Ile
RYR1:c.10188C>T protEffect RYR1:p.Asp3396Asp
RYR1:c.10218C>T protEffect RYR1:p.Tyr3406Tyr
RYR1:c.1021G>A protEffect RYR1:p.Gly341Arg
RYR1:c.1021G>C protEffect RYR1:p.Gly341Arg
RYR1:c.10262C>T protEffect RYR1:p.Ala3421Val
RYR1:c.10343C>T protEffect RYR1:p.Ser3448Phe
RYR1:c.103T>C protEffect RYR1:p.Cys35Arg
RYR1:c.10579C>T protEffect RYR1:p.Pro3527Ser
RYR1:c.10616G>A protEffect RYR1:p.Arg3539His
RYR1:c.10747G>C protEffect RYR1:p.Glu3583Gln
RYR1:c.1077T>C protEffect RYR1:p.Ala359Ala
RYR1:c.10817T>C protEffect RYR1:p.Leu3606Pro
RYR1:c.1100G>A protEffect RYR1:p.Arg367Gln
RYR1:c.1100G>T protEffect RYR1:p.Arg367Leu
RYR1:c.11120G>T protEffect RYR1:p.Arg3707Leu
RYR1:c.1116G>A protEffect RYR1:p.Lys372Lys
RYR1:c.11266C>G protEffect RYR1:p.Gln3756Glu
RYR1:c.11315G>A protEffect RYR1:p.Arg3772Gln
RYR1:c.11518G>A protEffect RYR1:p.Val3840Ile
RYR1:c.11547G>A protEffect RYR1:p.Gln3849Gln
RYR1:c.11708G>A protEffect RYR1:p.Arg3903Gln
RYR1:c.11748T>G protEffect RYR1:p.Ile3916Met
RYR1:c.11754T>A protEffect RYR1:p.Thr3918Thr
RYR1:c.11778G>A protEffect RYR1:p.Gln3926Gln
RYR1:c.11798A>G protEffect RYR1:p.Tyr3933Cys
RYR1:c.11953T>C protEffect RYR1:p.Trp3985Arg
RYR1:c.11958C>G protEffect RYR1:p.Asp3986Glu
RYR1:c.11969G>T protEffect RYR1:p.Gly3990Val
RYR1:c.1201C>G protEffect RYR1:p.Arg401Gly
RYR1:c.1201C>T protEffect RYR1:p.Arg401Cys
RYR1:c.1202G>A protEffect RYR1:p.Arg401His
RYR1:c.1205T>C protEffect RYR1:p.Met402Thr
RYR1:c.1209C>G protEffect RYR1:p.Ile403Met
RYR1:c.12121C>T protEffect RYR1:p.Arg4041Trp
RYR1:c.12149C>A protEffect RYR1:p.Ser4050Tyr
RYR1:c.1218C>T protEffect RYR1:p.Thr406Thr
RYR1:c.12241A>T protEffect RYR1:p.Thr4081Ser
RYR1:c.12335C>T protEffect RYR1:p.Ser4112Leu
RYR1:c.12355A>T protEffect RYR1:p.Asn4119Tyr
RYR1:c.12406C>A protEffect RYR1:p.Arg4136Ser
RYR1:c.12413T>C protEffect RYR1:p.Ile4138Thr
RYR1:c.12700G>C protEffect RYR1:p.Val4234Leu
RYR1:c.1280C>T protEffect RYR1:p.Ser427Leu
RYR1:c.12848A>T protEffect RYR1:p.Glu4283Val
RYR1:c.12879G>C protEffect RYR1:p.Ala4293Ala
RYR1:c.12884C>T protEffect RYR1:p.Ala4295Val
RYR1:c.12986C>A protEffect RYR1:p.Ala4329Asp
RYR1:c.130C>T protEffect RYR1:p.Arg44Cys
RYR1:c.131G>A protEffect RYR1:p.Arg44His
RYR1:c.13254C>A protEffect RYR1:p.Gly4418Gly
RYR1:c.13317C>T protEffect RYR1:p.Ala4439Ala
RYR1:c.13470G>A protEffect RYR1:p.Glu4490Glu
RYR1:c.13503G>A protEffect RYR1:p.Pro4501Pro
RYR1:c.13509A>G protEffect RYR1:p.Lys4503Lys
RYR1:c.13617C>T protEffect RYR1:p.Gly4539Gly
RYR1:c.13671C>G protEffect RYR1:p.Ser4557Ser
RYR1:c.13673G>A protEffect RYR1:p.Arg4558Gln
RYR1:c.13703T>C protEffect RYR1:p.Leu4568Pro
RYR1:c.13891T>A protEffect RYR1:p.Tyr4631Asn
RYR1:c.13900G>A protEffect RYR1:p.Glu4634Lys
RYR1:c.13909A>G protEffect RYR1:p.Thr4637Ala
RYR1:c.13910C>T protEffect RYR1:p.Thr4637Ile
RYR1:c.13912G>A protEffect RYR1:p.Gly4638Ser
RYR1:c.13913G>A protEffect RYR1:p.Gly4638Asp
RYR1:c.13919T>G protEffect RYR1:p.Met4640Arg
RYR1:c.13934G>A protEffect RYR1:p.Arg4645Gln
RYR1:c.13940T>C protEffect RYR1:p.Leu4647Pro
RYR1:c.13949T>C protEffect RYR1:p.Leu4650Pro
RYR1:c.13952A>C protEffect RYR1:p.His4651Pro
RYR1:c.14002C>T protEffect RYR1:p.Pro4668Ser
RYR1:c.14051T>C protEffect RYR1:p.Phe4684Ser
RYR1:c.14126C>T protEffect RYR1:p.Thr4709Met
RYR1:c.14170A>C protEffect RYR1:p.Lys4724Gln
RYR1:c.14197T>G protEffect RYR1:p.Tyr4733Asp
RYR1:c.14201G>A protEffect RYR1:p.Gly4734Glu
RYR1:c.14209C>T protEffect RYR1:p.Arg4737Trp
RYR1:c.14210G>A protEffect RYR1:p.Arg4737Gln
RYR1:c.14228G>A protEffect RYR1:p.Gly4743Asp
RYR1:c.1422G>T protEffect RYR1:p.Gln474His
RYR1:c.14256A>C protEffect RYR1:p.Thr4752Thr
RYR1:c.14378T>C protEffect RYR1:p.Leu4793Pro
RYR1:c.14387A>G protEffect RYR1:p.Tyr4796Cys
RYR1:c.14422T>A protEffect RYR1:p.Phe4808Ile
RYR1:c.14424C>A protEffect RYR1:p.Phe4808Leu
RYR1:c.14440C>T protEffect RYR1:p.Leu4814Phe
RYR1:c.14449A>T protEffect RYR1:p.Ile4817Phe
RYR1:c.14458G>T protEffect RYR1:p.Gly4820Trp
RYR1:c.14471T>C protEffect RYR1:p.Leu4824Pro
RYR1:c.14473C>T protEffect RYR1:p.Arg4825Cys
RYR1:c.14474G>C protEffect RYR1:p.Arg4825Pro
RYR1:c.14477C>T protEffect RYR1:p.Thr4826Ile
RYR1:c.14497C>T protEffect RYR1:p.His4833Tyr
RYR1:c.14512C>G protEffect RYR1:p.Leu4838Val
RYR1:c.14524G>A protEffect RYR1:p.Val4842Met
RYR1:c.14537C>T protEffect RYR1:p.Ala4846Val
RYR1:c.1453A>G protEffect RYR1:p.Met485Val
RYR1:c.14545G>A protEffect RYR1:p.Val4849Ile
RYR1:c.14567C>G protEffect RYR1:p.Ala4856Gly
RYR1:c.14572A>G protEffect RYR1:p.Asn4858Asp
RYR1:c.14578T>G protEffect RYR1:p.Phe4860Val
RYR1:c.14581C>T protEffect RYR1:p.Arg4861Cys
RYR1:c.14582G>A protEffect RYR1:p.Arg4861His
RYR1:c.14591A>G protEffect RYR1:p.Tyr4864Cys
RYR1:c.14627A>G protEffect RYR1:p.Lys4876Arg
RYR1:c.14639T>C protEffect RYR1:p.Met4880Thr
RYR1:c.14645C>T protEffect RYR1:p.Thr4882Met
RYR1:c.14667C>G protEffect RYR1:p.Tyr4889Stop
RYR1:c.14671G>C protEffect RYR1:p.Gly4891Arg
RYR1:c.14677C>T protEffect RYR1:p.Arg4893Trp
RYR1:c.14678G>A protEffect RYR1:p.Arg4893Gln
RYR1:c.14678G>C protEffect RYR1:p.Arg4893Pro
RYR1:c.14680G>A protEffect RYR1:p.Ala4894Thr
RYR1:c.14680G>C protEffect RYR1:p.Ala4894Pro
RYR1:c.14681C>T protEffect RYR1:p.Ala4894Val
RYR1:c.14693T>C protEffect RYR1:p.Ile4898Thr
RYR1:c.14695G>A protEffect RYR1:p.Gly4899Arg
RYR1:c.14696G>A protEffect RYR1:p.Gly4899Glu
RYR1:c.14717C>T protEffect RYR1:p.Ala4906Val
RYR1:c.14740A>G protEffect RYR1:p.Arg4914Gly
RYR1:c.14741G>C protEffect RYR1:p.Arg4914Thr
RYR1:c.14752G>A protEffect RYR1:p.Asp4918Asn
RYR1:c.14759C>A protEffect RYR1:p.Thr4920Asn
RYR1:c.14762T>C protEffect RYR1:p.Phe4921Ser
RYR1:c.14779G>T protEffect RYR1:p.Val4927Phe
RYR1:c.14814C>G protEffect RYR1:p.Ile4938Met
RYR1:c.14817C>A protEffect RYR1:p.Asp4939Glu
RYR1:c.14818G>A protEffect RYR1:p.Ala4940Thr
RYR1:c.14822T>G protEffect RYR1:p.Phe4941Cys
RYR1:c.14825G>T protEffect RYR1:p.Gly4942Val
RYR1:c.14879T>A protEffect RYR1:p.Phe4960Tyr
RYR1:c.14892C>A protEffect RYR1:p.Ile4964Ile
RYR1:c.14918C>T protEffect RYR1:p.Pro4973Leu
RYR1:c.152C>A protEffect RYR1:p.Thr51Asn
RYR1:c.1534G>A protEffect RYR1:p.Glu512Lys
RYR1:c.1565A>C protEffect RYR1:p.Tyr522Ser
RYR1:c.1565A>G protEffect RYR1:p.Tyr522Cys
RYR1:c.1589G>A protEffect RYR1:p.Arg530His
RYR1:c.1597C>T protEffect RYR1:p.Arg533Cys
RYR1:c.1598G>A protEffect RYR1:p.Arg533His
RYR1:c.1615T>C protEffect RYR1:p.Phe539Leu
RYR1:c.1654C>T protEffect RYR1:p.Arg552Trp
RYR1:c.1668G>A protEffect RYR1:p.Ser556Ser
RYR1:c.178G>A protEffect RYR1:p.Asp60Asn
RYR1:c.1840C>T protEffect RYR1:p.Arg614Cys
RYR1:c.1841G>T protEffect RYR1:p.Arg614Leu
RYR1:c.1878T>G protEffect RYR1:p.Pro626Pro
RYR1:c.190T>C protEffect RYR1:p.Cys64Arg
RYR1:c.2121C>A protEffect RYR1:p.Gly707Gly
RYR1:c.212C>A protEffect RYR1:p.Ser71Tyr
RYR1:c.2223C>T protEffect RYR1:p.Asp741Asp
RYR1:c.2286C>T protEffect RYR1:p.Pro762Pro
RYR1:c.2455C>T protEffect RYR1:p.Arg819Stop
RYR1:c.2537C>T protEffect RYR1:p.Ser846Leu
RYR1:c.2712G>A protEffect RYR1:p.Pro904Pro
RYR1:c.2943G>A protEffect RYR1:p.Thr981Thr
RYR1:c.2943G>C protEffect RYR1:p.Thr981Thr
RYR1:c.2979C>T protEffect RYR1:p.Asn993Asn
RYR1:c.2996G>A protEffect RYR1:p.Arg999His
RYR1:c.3042G>A protEffect RYR1:p.Ala1014Ala
RYR1:c.3127C>T protEffect RYR1:p.Arg1043Cys
RYR1:c.325C>T protEffect RYR1:p.Arg109Trp
RYR1:c.3418C>T protEffect RYR1:p.Arg1140Cys
RYR1:c.3456C>T protEffect RYR1:p.Ile1152Ile
RYR1:c.38T>G protEffect RYR1:p.Leu13Arg
RYR1:c.4024A>G protEffect RYR1:p.Ser1342Gly
RYR1:c.4107C>T protEffect RYR1:p.Pro1369Pro
RYR1:c.463C>A protEffect RYR1:p.Gln155Lys
RYR1:c.467G>A protEffect RYR1:p.Arg156Lys
RYR1:c.4719G>A protEffect RYR1:p.Pro1573Pro
RYR1:c.4729G>A protEffect RYR1:p.Ala1577Thr
RYR1:c.4775C>T protEffect RYR1:p.Pro1592Leu
RYR1:c.479A>G protEffect RYR1:p.Glu160Gly
RYR1:c.487C>T protEffect RYR1:p.Arg163Cys
RYR1:c.488G>T protEffect RYR1:p.Arg163Leu
RYR1:c.4934G>A protEffect RYR1:p.Arg1645Gln
RYR1:c.493G>A protEffect RYR1:p.Gly165Arg
RYR1:c.496G>A protEffect RYR1:p.Asp166Asn
RYR1:c.497A>G protEffect RYR1:p.Asp166Gly
RYR1:c.5110G>A protEffect RYR1:p.Gly1704Ser
RYR1:c.5182T>C protEffect RYR1:p.Ser1728Pro
RYR1:c.5183C>T protEffect RYR1:p.Ser1728Phe
RYR1:c.5186T>G protEffect RYR1:p.Met1729Arg
RYR1:c.529C>T protEffect RYR1:p.Arg177Cys
RYR1:c.533A>T protEffect RYR1:p.Tyr178Phe
RYR1:c.5360C>T protEffect RYR1:p.Pro1787Leu
RYR1:c.5441T>A protEffect RYR1:p.Met1814Lys
RYR1:c.5495G>C protEffect RYR1:p.Gly1832Ala
RYR1:c.5619G>A protEffect RYR1:p.Glu1873Glu
RYR1:c.573C>T protEffect RYR1:p.Asp191Asp
RYR1:c.594A>G protEffect RYR1:p.Leu198Leu
RYR1:c.5988C>T protEffect RYR1:p.Arg1996Arg
RYR1:c.6039A>G protEffect RYR1:p.Lys2013Lys
RYR1:c.6178G>T protEffect RYR1:p.Gly2060Cys
RYR1:c.6349G>C protEffect RYR1:p.Val2117Leu
RYR1:c.6387C>G protEffect RYR1:p.Asp2129Glu
RYR1:c.6388G>A protEffect RYR1:p.Gly2130Arg
RYR1:c.644G>A protEffect RYR1:p.Gly215Glu
RYR1:c.6487C>T protEffect RYR1:p.Arg2163Cys
RYR1:c.6488G>A protEffect RYR1:p.Arg2163His
RYR1:c.6488G>C protEffect RYR1:p.Arg2163Pro
RYR1:c.6502G>A protEffect RYR1:p.Val2168Met
RYR1:c.652G>A protEffect RYR1:p.Val218Ile
RYR1:c.6544A>T protEffect RYR1:p.Ile2182Phe
RYR1:c.6599C>T protEffect RYR1:p.Ala2200Val
RYR1:c.6612C>G protEffect RYR1:p.His2204Gln
RYR1:c.6617C>G protEffect RYR1:p.Thr2206Arg
RYR1:c.6617C>T protEffect RYR1:p.Thr2206Met
RYR1:c.6628G>T protEffect RYR1:p.Val2210Phe
RYR1:c.6635T>A protEffect RYR1:p.Val2212Asp
RYR1:c.6635T>C protEffect RYR1:p.Val2212Ala
RYR1:c.6640G>A protEffect RYR1:p.Val2214Ile
RYR1:c.6669C>T protEffect RYR1:p.Ile2223Ile
RYR1:c.677T>A protEffect RYR1:p.Met226Lys
RYR1:c.680A>T protEffect RYR1:p.Asp227Val
RYR1:c.6838G>A protEffect RYR1:p.Val2280Ile
RYR1:c.6847A>C protEffect RYR1:p.Asn2283His
RYR1:c.6961A>G protEffect RYR1:p.Ile2321Val
RYR1:c.7007G>A protEffect RYR1:p.Arg2336His
RYR1:c.7025A>G protEffect RYR1:p.Asn2342Ser
RYR1:c.7032G>C protEffect RYR1:p.Glu2344Asp
RYR1:c.7036G>A protEffect RYR1:p.Val2346Met
RYR1:c.7043A>G protEffect RYR1:p.Glu2348Gly
RYR1:c.7048G>A protEffect RYR1:p.Ala2350Thr
RYR1:c.7063C>T protEffect RYR1:p.Arg2355Trp
RYR1:c.7085A>G protEffect RYR1:p.Glu2362Gly
RYR1:c.7089C>T protEffect RYR1:p.Cys2363Cys
RYR1:c.7090T>G protEffect RYR1:p.Phe2364Val
RYR1:c.7097C>G protEffect RYR1:p.Pro2366Arg
RYR1:c.7098C>T protEffect RYR1:p.Pro2366Pro
RYR1:c.7099G>A protEffect RYR1:p.Ala2367Thr
RYR1:c.7102C>T protEffect RYR1:p.Leu2368Leu
RYR1:c.7124G>C protEffect RYR1:p.Gly2375Ala
RYR1:c.7209C>T protEffect RYR1:p.Arg2403Arg
RYR1:c.7260C>T protEffect RYR1:p.His2420His
RYR1:c.7261G>C protEffect RYR1:p.Ala2421Pro
RYR1:c.7268T>A protEffect RYR1:p.Met2423Lys
RYR1:c.7282G>A protEffect RYR1:p.Ala2428Thr
RYR1:c.7291G>A protEffect RYR1:p.Asp2431Asn
RYR1:c.7291G>T protEffect RYR1:p.Asp2431Tyr
RYR1:c.7300G>A protEffect RYR1:p.Gly2434Arg
RYR1:c.7304G>A protEffect RYR1:p.Arg2435His
RYR1:c.7304G>T protEffect RYR1:p.Arg2435Leu
RYR1:c.7310C>T protEffect RYR1:p.Ala2437Val
RYR1:c.7317G>C protEffect RYR1:p.Glu2439Asp
RYR1:c.7354C>T protEffect RYR1:p.Arg2452Trp
RYR1:c.7355G>A protEffect RYR1:p.Arg2452Gln
RYR1:c.7358T>C protEffect RYR1:p.Ile2453Thr
RYR1:c.7360C>T protEffect RYR1:p.Arg2454Cys
RYR1:c.7361G>A protEffect RYR1:p.Arg2454His
RYR1:c.7372C>T protEffect RYR1:p.Arg2458Cys
RYR1:c.7373G>A protEffect RYR1:p.Arg2458His
RYR1:c.742G>A protEffect RYR1:p.Gly248Arg
RYR1:c.742G>C protEffect RYR1:p.Gly248Arg
RYR1:c.7487C>T protEffect RYR1:p.Pro2496Leu
RYR1:c.7500G>T protEffect RYR1:p.Ala2500Ala
RYR1:c.7522C>G protEffect RYR1:p.Arg2508Gly
RYR1:c.7522C>T protEffect RYR1:p.Arg2508Cys
RYR1:c.7523G>A protEffect RYR1:p.Arg2508His
RYR1:c.7527G>A protEffect RYR1:p.Val2509Val
RYR1:c.7528T>C protEffect RYR1:p.Tyr2510His
RYR1:c.7584C>T protEffect RYR1:p.Pro2528Pro
RYR1:c.7635G>C protEffect RYR1:p.Glu2545Asp
RYR1:c.7648C>G protEffect RYR1:p.Leu2550Val
RYR1:c.7771C>G protEffect RYR1:p.Arg2591Gly
RYR1:c.7771C>T protEffect RYR1:p.Arg2591Trp
RYR1:c.7787C>T protEffect RYR1:p.Thr2596Ile
RYR1:c.7863C>T protEffect RYR1:p.His2621His
RYR1:c.7872C>T protEffect RYR1:p.Arg2624Arg
RYR1:c.7888G>C protEffect RYR1:p.Val2630Leu
RYR1:c.7977G>A protEffect RYR1:p.Thr2659Thr
RYR1:c.8026C>T protEffect RYR1:p.Arg2676Trp
RYR1:c.8118T>C protEffect RYR1:p.Ile2706Ile
RYR1:c.8188G>C protEffect RYR1:p.Asp2730His
RYR1:c.8189A>G protEffect RYR1:p.Asp2730Gly
RYR1:c.8190T>C protEffect RYR1:p.Asp2730Asp
RYR1:c.8198G>A protEffect RYR1:p.Gly2733Asp
RYR1:c.8290G>A protEffect RYR1:p.Glu2764Lys
RYR1:c.8337G>A protEffect RYR1:p.Glu2779Glu
RYR1:c.8360C>G protEffect RYR1:p.Thr2787Ser
RYR1:c.8518C>T protEffect RYR1:p.Arg2840Trp
RYR1:c.8589T>C protEffect RYR1:p.Ser2863Ser
RYR1:c.8600T>A protEffect RYR1:p.Leu2867Gln
RYR1:c.8638G>A protEffect RYR1:p.Glu2880Lys
RYR1:c.873G>A protEffect RYR1:p.Ala291Ala
RYR1:c.8816G>A protEffect RYR1:p.Arg2939Lys
RYR1:c.9186A>G protEffect RYR1:p.Pro3062Pro
RYR1:c.9310G>A protEffect RYR1:p.Glu3104Lys
RYR1:c.9356G>A protEffect RYR1:p.Arg3119His
RYR1:c.947G>T protEffect RYR1:p.Arg316Leu
RYR1:c.9690G>A protEffect RYR1:p.Leu3230Leu
RYR1:c.97A>G protEffect RYR1:p.Lys33Glu
RYR1:c.982C>T protEffect RYR1:p.Arg328Trp
SEPN1:c.1019A>T protEffect SEPN1:p.Asn340Ile
SEPN1:c.1021G>A protEffect SEPN1:p.Val341Met
SEPN1:c.1076T>C protEffect SEPN1:p.Ile359Thr
SEPN1:c.1173T>C protEffect SEPN1:p.Pro391Pro
SEPN1:c.1315C>T protEffect SEPN1:p.Arg439Stop
SEPN1:c.1329G>A protEffect SEPN1:p.Glu443Glu
SEPN1:c.1358G>C protEffect SEPN1:p.Trp453Ser
SEPN1:c.1384T>G protEffect SEPN1:p.Stop462Gly
SEPN1:c.1385G>A protEffect SEPN1:p.Stop462Stop
SEPN1:c.1386A>G protEffect SEPN1:p.Stop462Trp
SEPN1:c.1388G>T protEffect SEPN1:p.Gly463Val
SEPN1:c.1397G>A protEffect SEPN1:p.Arg466Gln
SEPN1:c.1405C>T protEffect SEPN1:p.Arg469Trp
SEPN1:c.1406G>A protEffect SEPN1:p.Arg469Gln
SEPN1:c.1469G>A protEffect SEPN1:p.Trp490Stop
SEPN1:c.1469G>T protEffect SEPN1:p.Trp490Leu
SEPN1:c.1506C>A protEffect SEPN1:p.Asn502Lys
SEPN1:c.1574T>G protEffect SEPN1:p.Met525Arg
SEPN1:c.1596C>T protEffect SEPN1:p.Gly532Gly
SEPN1:c.1645G>A protEffect SEPN1:p.Val549Met
SEPN1:c.1A>G protEffect SEPN1:p.Met1Val
SEPN1:c.253A>G protEffect SEPN1:p.Met85Val
SEPN1:c.2T>G protEffect SEPN1:p.Met1Arg
SEPN1:c.409A>G protEffect SEPN1:p.Thr137Ala
SEPN1:c.415G>A protEffect SEPN1:p.Ala139Thr
SEPN1:c.425G>A protEffect SEPN1:p.Cys142Tyr
SEPN1:c.42C>T protEffect SEPN1:p.Pro14Pro
SEPN1:c.465G>A protEffect SEPN1:p.Thr155Thr
SEPN1:c.481C>T protEffect SEPN1:p.Arg161Stop
SEPN1:c.583G>A protEffect SEPN1:p.Ala195Thr
SEPN1:c.817G>A protEffect SEPN1:p.Gly273Arg
SEPN1:c.846C>T protEffect SEPN1:p.Ser282Ser
SEPN1:c.872G>A protEffect SEPN1:p.Arg291Gln
SEPN1:c.878A>G protEffect SEPN1:p.His293Arg
SEPN1:c.943G>A protEffect SEPN1:p.Gly315Ser
SEPN1:c.981C>T protEffect SEPN1:p.Arg327Arg
SGCA:c.100C>T protEffect SGCA:p.Arg34Cys
SGCA:c.101G>A protEffect SGCA:p.Arg34His
SGCA:c.157G>A protEffect SGCA:p.Ala53Thr
SGCA:c.184T>C protEffect SGCA:p.Tyr62His
SGCA:c.203G>A protEffect SGCA:p.Gly68Glu
SGCA:c.220C>T protEffect SGCA:p.Arg74Trp
SGCA:c.229C>T protEffect SGCA:p.Arg77Cys
SGCA:c.238C>T protEffect SGCA:p.Gln80Stop
SGCA:c.241C>T protEffect SGCA:p.Arg81Cys
SGCA:c.265C>T protEffect SGCA:p.Leu89Phe
SGCA:c.269A>G protEffect SGCA:p.Tyr90Cys
SGCA:c.271G>A protEffect SGCA:p.Gly91Ser
SGCA:c.271G>C protEffect SGCA:p.Gly91Arg
SGCA:c.278C>T protEffect SGCA:p.Ala93Val
SGCA:c.290A>G protEffect SGCA:p.Asp97Gly
SGCA:c.292C>A protEffect SGCA:p.Arg98Ser
SGCA:c.292C>T protEffect SGCA:p.Arg98Cys
SGCA:c.293G>A protEffect SGCA:p.Arg98His
SGCA:c.301C>T protEffect SGCA:p.Gln101Stop
SGCA:c.307A>T protEffect SGCA:p.Ile103Phe
SGCA:c.308T>C protEffect SGCA:p.Ile103Thr
SGCA:c.329G>T protEffect SGCA:p.Arg110Leu
SGCA:c.371T>C protEffect SGCA:p.Ile124Thr
SGCA:c.377A>G protEffect SGCA:p.Asp126Gly
SGCA:c.402C>G protEffect SGCA:p.Tyr134Stop
SGCA:c.403C>T protEffect SGCA:p.Gln135Stop
SGCA:c.409G>A protEffect SGCA:p.Glu137Lys
SGCA:c.416T>G protEffect SGCA:p.Leu139Arg
SGCA:c.421C>A protEffect SGCA:p.Arg141Ser
SGCA:c.432T>C protEffect SGCA:p.Asp144Asp
SGCA:c.452C>G protEffect SGCA:p.Ser151Stop
SGCA:c.472C>T protEffect SGCA:p.Leu158Phe
SGCA:c.518T>C protEffect SGCA:p.Leu173Pro
SGCA:c.524T>C protEffect SGCA:p.Val175Ala
SGCA:c.528C>T protEffect SGCA:p.Thr176Thr
SGCA:c.541C>T protEffect SGCA:p.Arg181Cys
SGCA:c.574C>T protEffect SGCA:p.Arg192Stop
SGCA:c.583G>A protEffect SGCA:p.Gly195Arg
SGCA:c.586G>A protEffect SGCA:p.Val196Ile
SGCA:c.600G>A protEffect SGCA:p.Val200Val
SGCA:c.613C>T protEffect SGCA:p.Pro205Ser
SGCA:c.614C>A protEffect SGCA:p.Pro205His
SGCA:c.622A>G protEffect SGCA:p.Thr208Ala
SGCA:c.623C>T protEffect SGCA:p.Thr208Ile
SGCA:c.644C>T protEffect SGCA:p.Ser215Phe
SGCA:c.662G>A protEffect SGCA:p.Arg221His
SGCA:c.671A>C protEffect SGCA:p.Gln224Pro
SGCA:c.680C>G protEffect SGCA:p.Pro227Arg
SGCA:c.683C>A protEffect SGCA:p.Pro228Gln
SGCA:c.695G>C protEffect SGCA:p.Cys232Ser
SGCA:c.704C>A protEffect SGCA:p.Thr235Asn
SGCA:c.712C>A protEffect SGCA:p.Pro238Thr
SGCA:c.724G>T protEffect SGCA:p.Val242Phe
SGCA:c.725T>C protEffect SGCA:p.Val242Ala
SGCA:c.739G>A protEffect SGCA:p.Val247Met
SGCA:c.73C>T protEffect SGCA:p.Gln25Stop
SGCA:c.814G>T protEffect SGCA:p.Asp272Tyr
SGCA:c.850C>T protEffect SGCA:p.Arg284Cys
SGCA:c.88C>A protEffect SGCA:p.Pro30Thr
SGCA:c.89C>T protEffect SGCA:p.Pro30Leu
SGCA:c.92T>C protEffect SGCA:p.Leu31Pro
SGCA:c.933C>T protEffect SGCA:p.Val311Val
SGCA:c.935T>G protEffect SGCA:p.Met312Arg
SGCB:c.166G>C protEffect SGCB:p.Gly56Arg
SGCB:c.191T>G protEffect SGCB:p.Leu64Stop
SGCB:c.1A>T protEffect SGCB:p.Met1Leu
SGCB:c.212T>G protEffect SGCB:p.Leu71Arg
SGCB:c.265G>A protEffect SGCB:p.Val89Met
SGCB:c.271C>T protEffect SGCB:p.Arg91Cys
SGCB:c.272G>C protEffect SGCB:p.Arg91Pro
SGCB:c.272G>T protEffect SGCB:p.Arg91Leu
SGCB:c.275T>C protEffect SGCB:p.Ile92Thr
SGCB:c.299T>A protEffect SGCB:p.Met100Lys
SGCB:c.2T>C protEffect SGCB:p.Met1Thr
SGCB:c.31C>G protEffect SGCB:p.Gln11Glu
SGCB:c.31C>T protEffect SGCB:p.Gln11Stop
SGCB:c.323T>G protEffect SGCB:p.Leu108Arg
SGCB:c.325C>T protEffect SGCB:p.Arg109Stop
SGCB:c.341C>T protEffect SGCB:p.Ser114Phe
SGCB:c.355A>T protEffect SGCB:p.Ile119Phe
SGCB:c.376A>G protEffect SGCB:p.Thr126Ala
SGCB:c.398A>G protEffect SGCB:p.Glu133Gly
SGCB:c.416G>A protEffect SGCB:p.Gly139Asp
SGCB:c.452C>G protEffect SGCB:p.Thr151Arg
SGCB:c.499G>A protEffect SGCB:p.Gly167Ser
SGCB:c.538T>C protEffect SGCB:p.Phe180Leu
SGCB:c.544A>G protEffect SGCB:p.Thr182Ala
SGCB:c.551A>G protEffect SGCB:p.Tyr184Cys
SGCB:c.552T>G protEffect SGCB:p.Tyr184Stop
SGCB:c.630C>G protEffect SGCB:p.Ser210Arg
SGCB:c.799C>T protEffect SGCB:p.Arg267Cys
SGCB:c.83A>G protEffect SGCB:p.Glu28Gly
SGCB:c.856A>G protEffect SGCB:p.Lys286Glu
SGCB:c.858G>T protEffect SGCB:p.Lys286Asn
SGCB:c.85A>T protEffect SGCB:p.Arg29Stop
SGCB:c.90G>T protEffect SGCB:p.Arg30Ser
SGCB:c.911A>G protEffect SGCB:p.Asn304Ser
SGCB:c.931G>A protEffect SGCB:p.Asp311Asn
SGCD:c.212G>C protEffect SGCD:p.Arg71Thr
SGCD:c.226G>T protEffect SGCD:p.Gly76Cys
SGCD:c.277G>T protEffect SGCD:p.Glu93Stop
SGCD:c.290G>A protEffect SGCD:p.Arg97Gln
SGCD:c.309C>T protEffect SGCD:p.Tyr103Tyr
SGCD:c.391G>C protEffect SGCD:p.Ala131Pro
SGCD:c.451T>G protEffect SGCD:p.Ser151Ala
SGCD:c.493C>T protEffect SGCD:p.Arg165Stop
SGCD:c.593G>C protEffect SGCD:p.Arg198Pro
SGCD:c.631A>T protEffect SGCD:p.Asn211Tyr
SGCD:c.784G>A protEffect SGCD:p.Glu262Lys
SGCD:c.84T>C protEffect SGCD:p.Tyr28Tyr
SGCD:c.89G>A protEffect SGCD:p.Trp30Stop
SGCG:c.205G>C protEffect SGCG:p.Gly69Arg
SGCG:c.206G>C protEffect SGCG:p.Gly69Ala
SGCG:c.228T>C protEffect SGCG:p.Asp76Asp
SGCG:c.233T>C protEffect SGCG:p.Leu78Pro
SGCG:c.240G>C protEffect SGCG:p.Leu80Phe
SGCG:c.244G>A protEffect SGCG:p.Gly82Arg
SGCG:c.269T>C protEffect SGCG:p.Leu90Ser
SGCG:c.307C>G protEffect SGCG:p.Leu103Val
SGCG:c.312T>G protEffect SGCG:p.Leu104Leu
SGCG:c.317A>C protEffect SGCG:p.Gln106Pro
SGCG:c.320C>T protEffect SGCG:p.Ser107Leu
SGCG:c.347G>A protEffect SGCG:p.Arg116His
SGCG:c.355G>T protEffect SGCG:p.Glu119Stop
SGCG:c.496C>T protEffect SGCG:p.Arg166Stop
SGCG:c.526G>T protEffect SGCG:p.Glu176Stop
SGCG:c.551T>G protEffect SGCG:p.Val184Gly
SGCG:c.581T>C protEffect SGCG:p.Leu194Ser
SGCG:c.629A>G protEffect SGCG:p.His210Arg
SGCG:c.690T>A protEffect SGCG:p.Ser230Arg
SGCG:c.705T>C protEffect SGCG:p.Leu235Leu
SGCG:c.787G>A protEffect SGCG:p.Glu263Lys
SGCG:c.848G>A protEffect SGCG:p.Cys283Tyr
SGCZ:c.571C>T protEffect SGCZ:p.His191Tyr
SGCZ:c.573C>T protEffect SGCZ:p.His191His
SGCZ:c.574T>C protEffect SGCZ:p.Ser192Pro
SGCZ:c.793T>C protEffect SGCZ:p.Ser265Pro
SGCZ:c.865G>A protEffect SGCZ:p.Gly289Ser
SMN1:c.131A>T protEffect SMN1:p.Asp44Val
SMN1:c.283G>C protEffect SMN1:p.Gly95Arg
SMN1:c.305G>A protEffect SMN1:p.Trp102Stop
SMN1:c.332C>G protEffect SMN1:p.Ala111Gly
SMN1:c.346A>T protEffect SMN1:p.Ile116Phe
SMN1:c.400G>A protEffect SMN1:p.Glu134Lys
SMN1:c.406C>G protEffect SMN1:p.Gln136Glu
SMN1:c.43C>T protEffect SMN1:p.Gln15Stop
SMN1:c.5C>G protEffect SMN1:p.Ala2Gly
SMN1:c.683T>A protEffect SMN1:p.Leu228Stop
SMN1:c.734C>T protEffect SMN1:p.Pro245Leu
SMN1:c.784A>G protEffect SMN1:p.Ser262Gly
SMN1:c.785G>T protEffect SMN1:p.Ser262Ile
SMN1:c.815A>G protEffect SMN1:p.Tyr272Cys
SMN1:c.821C>T protEffect SMN1:p.Thr274Ile
SMN1:c.823G>A protEffect SMN1:p.Gly275Ser
SMN1:c.835G>T protEffect SMN1:p.Gly279Cys
SMN1:c.836G>T protEffect SMN1:p.Gly279Val
SMN1:c.88G>A protEffect SMN1:p.Asp30Asn
SSPN:c.286T>C protEffect SSPN:p.Leu96Leu
SSPN:c.401C>T protEffect SSPN:p.Thr134Met
SSPN:c.557G>A protEffect SSPN:p.Ser186Asn
SSPN:c.682G>A protEffect SSPN:p.Val228Ile
SYNE1:c.12276C>T protEffect SYNE1:p.Leu4092Leu
SYNE1:c.12363G>T protEffect SYNE1:p.Lys4121Asn
SYNE1:c.21934C>T protEffect SYNE1:p.Gln7312Stop
SYNE1:c.22452A>G protEffect SYNE1:p.Ser7484Ser
SYNE1:c.22473G>A protEffect SYNE1:p.Leu7491Leu
SYNE1:c.23131C>T protEffect SYNE1:p.Gln7711Stop
SYNE1:c.24284G>A protEffect SYNE1:p.Arg8095His
SYNE1:c.25159G>T protEffect SYNE1:p.Val8387Leu
SYNE1:c.25381G>A protEffect SYNE1:p.Glu8461Lys
SYNE1:c.26060C>T protEffect SYNE1:p.Thr8687Ile
SYNE1:c.5190T>A protEffect SYNE1:p.Asp1730Glu
SYNE1:c.8403C>T protEffect SYNE1:p.Tyr2801Tyr
SYNE1:c.8656C>G protEffect SYNE1:p.Leu2886Val
SYNE1:c.8693G>A protEffect SYNE1:p.Ser2898Asn
SYNE1:c.8695A>T protEffect SYNE1:p.Arg2899Stop
SYNE2:c.18632C>T protEffect SYNE2:p.Thr6211Met
TCAP:c.145G>A protEffect TCAP:p.Glu49Lys
TCAP:c.156C>T protEffect TCAP:p.His52His
TCAP:c.157C>T protEffect TCAP:p.Gln53Stop
TCAP:c.171C>G protEffect TCAP:p.Cys57Trp
TCAP:c.191C>T protEffect TCAP:p.Ser64Leu
TCAP:c.208C>G protEffect TCAP:p.Arg70Gly
TCAP:c.225C>A protEffect TCAP:p.Gly75Gly
TCAP:c.226C>T protEffect TCAP:p.Arg76Cys
TCAP:c.260G>A protEffect TCAP:p.Arg87Gln
TCAP:c.269C>T protEffect TCAP:p.Pro90Leu
TCAP:c.316C>T protEffect TCAP:p.Arg106Cys
TCAP:c.394G>C protEffect TCAP:p.Glu132Gln
TCAP:c.410C>T protEffect TCAP:p.Thr137Ile
TCAP:c.421C>G protEffect TCAP:p.Pro141Ala
TCAP:c.447C>T protEffect TCAP:p.Pro149Pro
TCAP:c.453A>C protEffect TCAP:p.Ala151Ala
TCAP:c.458G>A protEffect TCAP:p.Arg153His
TCAP:c.53G>A protEffect TCAP:p.Arg18Gln
TCAP:c.75G>A protEffect TCAP:p.Trp25Stop
TNNI2:c.466C>T protEffect TNNI2:p.Arg156Stop
TNNI2:c.521G>A protEffect TNNI2:p.Arg174Gln
TNNI2:c.60T>C protEffect TNNI2:p.Ser20Ser
TNNT1:c.279A>G protEffect TNNT1:p.Glu93Glu
TNNT1:c.35A>G protEffect TNNT1:p.Glu12Gly
TNNT1:c.538G>T protEffect TNNT1:p.Glu180Stop
TNNT1:c.795G>T protEffect TNNT1:p.Arg265Arg
TNNT3:c.188G>A protEffect TNNT3:p.Arg63His
TNNT3:c.328C>T protEffect TNNT3:p.Arg110Cys
TNNT3:c.414G>A protEffect TNNT3:p.Glu138Glu
TNNT3:c.636T>C protEffect TNNT3:p.Ile212Ile
TNNT3:c.762C>T protEffect TNNT3:p.Gly254Gly
TPM1:c.118G>A protEffect TPM1:p.Glu40Lys
TPM1:c.160G>A protEffect TPM1:p.Glu54Lys
TPM1:c.184G>C protEffect TPM1:p.Glu62Gln
TPM1:c.188C>T protEffect TPM1:p.Ala63Val
TPM1:c.209A>C protEffect TPM1:p.Lys70Thr
TPM1:c.284T>C protEffect TPM1:p.Val95Ala
TPM1:c.403C>A protEffect TPM1:p.Gln135Lys
TPM1:c.515T>C protEffect TPM1:p.Ile172Thr
TPM1:c.523G>A protEffect TPM1:p.Asp175Asn
TPM1:c.539A>G protEffect TPM1:p.Glu180Gly
TPM1:c.539A>T protEffect TPM1:p.Glu180Val
TPM1:c.549T>G protEffect TPM1:p.Ala183Ala
TPM1:c.554T>G protEffect TPM1:p.Leu185Arg
TPM1:c.842T>C protEffect TPM1:p.Met281Thr
TPM2:c.121G>A protEffect TPM2:p.Glu41Lys
TPM2:c.271C>G protEffect TPM2:p.Arg91Gly
TPM2:c.278A>G protEffect TPM2:p.Gln93Arg
TPM2:c.349G>A protEffect TPM2:p.Glu117Lys
TPM2:c.397C>T protEffect TPM2:p.Arg133Trp
TPM2:c.398G>C protEffect TPM2:p.Arg133Pro
TPM2:c.440A>C protEffect TPM2:p.Gln147Pro
TPM2:c.5A>T protEffect TPM2:p.Asp2Val
TPM2:c.699G>T protEffect TPM2:p.Lys233Asn
TPM3:c.11C>T protEffect TPM3:p.Ala4Val
TPM3:c.26T>G protEffect TPM3:p.Met9Arg
TPM3:c.272G>C protEffect TPM3:p.Arg91Pro
TPM3:c.298C>A protEffect TPM3:p.Leu100Met
TPM3:c.502C>G protEffect TPM3:p.Arg168Gly
TPM3:c.502C>T protEffect TPM3:p.Arg168Cys
TPM3:c.503G>A protEffect TPM3:p.Arg168His
TPM3:c.505A>G protEffect TPM3:p.Lys169Glu
TPM3:c.721G>A protEffect TPM3:p.Glu241Lys
TPM3:c.733A>G protEffect TPM3:p.Arg245Gly
TPM3:c.857A>C protEffect TPM3:p.Stop286Ser
TPM3:c.94C>T protEffect TPM3:p.Gln32Stop
TRIM32:c.1181G>A protEffect TRIM32:p.Arg394His
TRIM32:c.1254G>A protEffect TRIM32:p.Val418Val
TRIM32:c.1459G>A protEffect TRIM32:p.Asp487Asn
TRIM32:c.1815T>C protEffect TRIM32:p.Gly605Gly
TRIM32:c.388C>T protEffect TRIM32:p.Pro130Ser
TRIM32:c.770C>G protEffect TRIM32:p.Thr257Arg
VCP:c.1732G>C protEffect VCP:p.Glu578Gln
VCP:c.283C>G protEffect VCP:p.Arg95Gly
VCP:c.463C>T protEffect VCP:p.Arg155Cys
VCP:c.464G>A protEffect VCP:p.Arg155His
VCP:c.464G>C protEffect VCP:p.Arg155Pro
VCP:c.476G>A protEffect VCP:p.Arg159His
VCP:c.572G>A protEffect VCP:p.Arg191Gln
VCP:c.695C>A protEffect VCP:p.Ala232Glu
VMA21:c.272G>C protEffect VMA21:p.Gly91Ala
ZMPSTE24:c.1018T>C protEffect ZMPSTE24:p.Trp340Arg
ZMPSTE24:c.121C>T protEffect ZMPSTE24:p.Gln41Stop
ZMPSTE24:c.1249C>T protEffect ZMPSTE24:p.Gln417Stop
ZMPSTE24:c.1349G>A protEffect ZMPSTE24:p.Trp450Stop
ZMPSTE24:c.1385T>G protEffect ZMPSTE24:p.Leu462Arg
ZMPSTE24:c.651T>C protEffect ZMPSTE24:p.Asp217Asp
ZMPSTE24:c.691G>T protEffect ZMPSTE24:p.Glu231Stop
ZMPSTE24:c.709G>T protEffect ZMPSTE24:p.Glu237Stop
ZMPSTE24:c.743C>T protEffect ZMPSTE24:p.Pro248Leu
ZMPSTE24:c.794A>G protEffect ZMPSTE24:p.Asn265Ser
TTN_00008 commonName c.160G>A
TTN_00008 protEffect TTN:p.Val54Met
TTN_00029 commonName c.982C>T
TTN_00029 protEffect TTN:p.Arg328Cys
TTN_00001 commonName c.2219G>T
TTN_00001 protEffect TTN:p.Arg740Leu
TTN_00007 commonName c.2228C>T
TTN_00007 protEffect TTN:p.Ala743Val
TTN_00003 commonName c.2926T>C
TTN_00003 protEffect TTN:p.Trp976Arg
TTN_00013 commonName c.3380+283AC(12_13)
TTN_00014 commonName c.8902+14TA(8_9)
TTN_00012 commonName c.11312-5063G>T
TTN_00011 commonName c.12347C>A
TTN_00011 protEffect TTN:p.Ser4116Tyr
TTN_00009 commonName c.13108C>T
TTN_00009 protEffect TTN:p.Gln4370Stop
TTN_00030 commonName c.13202G>A
TTN_00030 protEffect TTN:p.Arg4401Gln
TTN_00031 commonName c.13594A>C
TTN_00031 protEffect TTN:p.Thr4532Pro
TTN_00010 commonName c.14339G>A
TTN_00010 protEffect TTN:p.Ser4780Asn
TTN_00016 commonName c.17740+64A(10_11)
TTN_00017 commonName c.26762-36GTTTT(5_9)
TTN_00018 commonName c.30598+153A(11_12)
TTN_00019 commonName c.32354-540A(22_25)
TTN_00020 commonName c.34333+260AT(13_16)
TTN_00028 commonName c.37583-4T>C
TTN_00021 commonName c.40087+3TA(11_15)
TTN_00022 commonName c.40163-116TA(21_23)
TTN_00023 commonName c.40792+179AT(22_26)
TTN_00027 commonName c.64073C>T
TTN_00027 protEffect TTN:p.Thr21358Ile
TTN_00002 commonName c.70555_70556dup
TTN_00026 commonName c.94912A>G
TTN_00026 protEffect TTN:p.Ser31638Gly
TTN_00025 commonName c.99961G>A
TTN_00025 protEffect TTN:p.Val33321Ile
TTN_00004 commonName c.107645_107655insTGAAAGAAAAA
TTN_00006 commonName c.107705T>A
TTN_00006 protEffect TTN:p.Ile35902Asn
TTN_00005 commonName c.107732T>C
TTN_00005 protEffect TTN:p.Leu35911Pro
TTN_00024 commonName c.*99dupA
RettBASE_MECP2_e1:c.-46_-45delGC commonName MECP2_e1: c.-46_-45delGC
RettBASE_MECP2_e1:c.-46_-45delGC phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_MECP2_e1:c.-27_-26delAG commonName MECP2_e1: c.-27_-26delAG
RettBASE_MECP2_e1:c.-27_-26delAG phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_MECP2_e1:c.-27_-26delinsTT commonName MECP2_e1: c.-27_-26delinsTT
RettBASE_MECP2_e1:c.-27_-26delinsTT phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_c.-15C>T phenoCommon Not Rett synd. - Unaffected family member
RettBASE_c.1038_1119del82 protEffect p.S346fs
RettBASE_c.*487G>C phenoCommon Not Rett synd. - unaffected family member
RettBASE_c.965C>T protEffect p.P322L
RettBASE_c.880C>T protEffect p.R294X
RettBASE_c.502C>T protEffect p.R168X
RettBASE_c.752C>T protEffect p.P251L
RettBASE_p.L386fs protEffect p.L386fs
RettBASE_p.L386fs phenoCommon Rett syndrome - Classical
RettBASE_c.590C>T protEffect p.T197M
RettBASE_c.*93G>A phenoCommon Not Rett synd. - Non Rett syndrome control
RettBASE_c.1157_1197del41 protEffect p.L386fs
RettBASE_c.1104C>T protEffect p.H368H
RettBASE_c.897C>T protEffect p.T299T
RettBASE_c.473C>T protEffect p.T158M
RettBASE_c.397C>T protEffect p.R133C
RettBASE_c.819G>T protEffect p.G273G
RettBASE_c.*8C>T phenoCommon Not Rett synd. - Unaffected family member
RettBASE_c.806delG protEffect p.G269fs
RettBASE_c.808C>T protEffect p.R270X
RettBASE_c.916C>T protEffect p.R306C
RettBASE_c.608C>T protEffect p.T203M
RettBASE_c.1053_1054ins10 protEffect p.K352fs
RettBASE_c.1103_1172del protEffect p.H368fs
RettBASE_c.965_970del6 protEffect p.P322_L323del
RettBASE_c.1118_1300del183ins61 protEffect p.S373fs
RettBASE_c.1161_1166del6 protEffect p.P388_P389del
RettBASE_c.1163_1173del11 protEffect p.P388fs
RettBASE_c.802C>T protEffect p.R268W
RettBASE_c.750C>T protEffect p.R250R
RettBASE_c.*9G>A phenoCommon Not Rett synd. - autism only
RettBASE_c.881_1169del289 protEffect p.R294_D398delinsHLSPRA
RettBASE_c.1126C>T protEffect p.P376S
RettBASE_c.1125_1137del13 protEffect p.S375fs
RettBASE_c.777C>T protEffect p.A259A
RettBASE_c.609G>A protEffect p.T203T
RettBASE_c.*98dupA phenoCommon Rett syndrome - Not certain
RettBASE_c.*122delT phenoCommon Rett syndrome - Not certain
RettBASE_c.992_994delAGA protEffect p.K331del
RettBASE_c.316C>T protEffect p.R106W
RettBASE_p.S373X protEffect p.S373X
RettBASE_p.S373X phenoCommon Rett syndrome - Atypical
RettBASE_c.*177G>C phenoCommon Not Rett synd. - autism only
RettBASE_c.*5348T>C phenoCommon Not Rett synd. - autism only
RettBASE_c.1202G>A protEffect p.S401N
RettBASE_c.710G>T protEffect p.G237V
RettBASE_c.*36G>C phenoCommon Not Rett synd. - Angelman syndrome
RettBASE_c.*139G>A phenoCommon Not Rett synd. - Autism only
RettBASE_c.1132_1159del28 protEffect p.A378fs
RettBASE_c.1147_1176del30 protEffect p.L383_E392del
RettBASE_c.1063_1188del126 protEffect p.S355fs
RettBASE_c.*92C>T phenoCommon Rett syndrome - Classical
RettBASE_c.*328G>A phenoCommon Rett syndrome - Classical
RettBASE_c.*359G>C phenoCommon Rett syndrome - Classical
RettBASE_c.*363G>C phenoCommon Rett syndrome - Classical
RettBASE_c.*204G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*371G>C phenoCommon Not Rett synd. - Autism
RettBASE_c.*544G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*554G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*767G>T phenoCommon Not Rett synd. - Autism
RettBASE_c.*861T>G phenoCommon Not Rett synd. - Autism
RettBASE_c.*878C>G phenoCommon Not Rett synd. - Autism
RettBASE_c.*1368C>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*1737G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*2556T>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*2657G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*2706G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*2956G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*3477G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.*3658C>T phenoCommon Not Rett synd. - Autism
RettBASE_c.*3878G>C phenoCommon Not Rett synd. - Autism
RettBASE_c.*4576A>C phenoCommon Not Rett synd. - Autism
RettBASE_c.*5486_*5487dupAT phenoCommon Not Rett synd. - Autism
RettBASE_c.*7748C>T phenoCommon Not Rett synd. - Autism
RettBASE_c.*7856A>C phenoCommon Not Rett synd. - Autism
RettBASE_c.*8503delC phenoCommon Not Rett synd. - Autism
RettBASE_c.*393G>A phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*489G>C phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*529G>T phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*806G>A phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*831G>C phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*875dupA phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*1237T>C phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*3662A>G phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*4086_*4087delGT phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.*5839C>T phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.26+22C>G protEffect p.D156E
RettBASE_c.426C>T protEffect p.F142F
RettBASE_c.27-5690_1208del7628ins42 protEffect p.R9fs
RettBASE_c.834C>T protEffect p.A278A
RettBASE_c.1158_1167del10 protEffect p.P387HfsX9
RettBASE_c.528C>G protEffect p.P176P
RettBASE_c.1451G>C protEffect p.R484T
RettBASE_c.1105_1116del12 protEffect p.H369_H372del
RettBASE_c.1159_1174del16 protEffect p.P387fs
RettBASE_c.1197_1237inv protEffect p.T400fs
RettBASE_c.1317_*623delins22 protEffect p.A439fs
RettBASE_c.1004_1037del protEffect p.G335fs
RettBASE_c.947_1029delins1196_1254inv protEffect p.V316fs
RettBASE_c.27-5862_1132del protEffect p.R9fs
RettBASE_c.27-5944_1132del protEffect p.R9fs
RettBASE_c.1129_1133delAAGGCinsGAGT protEffect p.K377fs
RettBASE_c.1043_1056del14 protEffect p.E348fs
RettBASE_c.1051_1065del15 protEffect p.P351_S355del
RettBASE_c.641_653del13 protEffect p.E214_Q437delinsGSSLSRCLFKLRQGARLRGE
RettBASE_c.380C>T protEffect p.P127L
RettBASE_c.343C>T protEffect p.R155C
RettBASE_c.27-?_377+?del protEffect p.R9fs
RettBASE_c.27-?_1000+?dup protEffect p.?
RettBASE_c.*1134G>A phenoCommon Rett syndrome - congenital
RettBASE_c.1155_1172del18 protEffect p.L386_P391del
RettBASE_CDKL5:c.*15C>T commonName CDKL5: c.*15C>T
RettBASE_c.455C>G protEffect p.P152R
RettBASE_c.*8503dupC phenoCommon Not Rett synd. - non-Rett syndrome control
RettBASE_c.1121_1311del191 protEffect p.E374fs
RettBASE_c.1363G>T protEffect p.E455X
RettBASE_c.334A>T protEffect p.K112X
RettBASE_p.F157L protEffect p.F157L
RettBASE_p.F157L phenoCommon Rett syndrome - Classical
RettBASE_c.398G>T protEffect p.R133L
RettBASE_c.*92C>G phenoCommon Rett syndrome - classical
RettBASE_c.377+28A>G protEffect p.T338T
RettBASE_c.378-17delT protEffect p.[P389_P391del; P393L; E394fs]
RettBASE_c.1035A>G protEffect p.K345K
RettBASE_CDKL5:c.*131_*132delinsAT commonName CDKL5: c.*131_*132delinsAT
RettBASE_CDKL5:c.*131_*132delinsAT phenoCommon Rett syndrome - congenital
RettBASE_c.276_277insG protEffect p.P94fs
RettBASE_MECP2_e1:c.1A>T commonName MECP2_e1: c.1A>T
RettBASE_MECP2_e1:c.1A>T phenoCommon Rett syndrome - classical
RettBASE_c.1-?_26+?del protEffect p.M1?
RettBASE_c.1-?_26+?del phenoCommon Rett syndrome - classical
RettBASE_c.1-?dup protEffect p.M1?
RettBASE_c.1-?dup phenoCommon Rett syndrome - not certain
RettBASE_c.1-?_26+?dup protEffect p.M1?
RettBASE_c.1-?_26+?dup phenoCommon Rett syndrome - not certain
RettBASE_MECP2_e1:c.1A>G commonName MECP2_e1: c.1A>G
RettBASE_MECP2_e1:c.1A>G phenoCommon Rett syndrome - not certain
RettBASE_MECP2_e1:c.5C>T commonName MECP2_e1: c.5C>T
RettBASE_MECP2_e1:c.5C>T phenoCommon Rett syndrome - classical
RettBASE_MECP2_e1:c.15_23dup9 commonName MECP2_e1: c.15_23dup9
RettBASE_MECP2_e1:c.15_23dup9 phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_MECP2_e1:c.18_23dup6 commonName MECP2_e1: c.18_23dup6
RettBASE_MECP2_e1:c.18_23dup6 phenoCommon Rett syndrome - Atypical
RettBASE_MECP2_e1:c.18_23del6 commonName MECP2_e1: c.18_23del6
RettBASE_MECP2_e1:c.18_23del6 phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_MECP2_e1:c.21_23dup3 commonName MECP2_e1: c.21_23dup3
RettBASE_MECP2_e1:c.23_27dupCGCCG commonName MECP2_e1: c.23_27dupCGCCG
RettBASE_MECP2_e1:c.23_27dupCGCCG phenoCommon Rett syndrome - classical
RettBASE_c.26+2T>A phenoCommon Rett syndrome - Not certain
RettBASE_c.27-8C>G phenoCommon Rett syndrome - Classical
RettBASE_c.27-6C>G protEffect p.R9fs
RettBASE_c.27-6C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.27-2A>G phenoCommon Rett syndrome - Not certain
RettBASE_c.27-9A>G phenoCommon Rett syndrome - Classical
RettBASE_c.27-12521_*5072del19784 protEffect p.R9fs
RettBASE_c.27-12521_*5072del19784 phenoCommon Rett syndrome - Classical
RettBASE_c.27-55G>A phenoCommon Not Rett synd. - Autism
RettBASE_c.27-?_1337+?del protEffect p.R9fs
RettBASE_c.27-?_1337+?del phenoCommon Rett syndrome - classical
RettBASE_c.27-?_1185+?del protEffect p.R9fs
RettBASE_c.27-?_1185+?del phenoCommon Rett syndrome - classical
RettBASE_c.27-96_1205del protEffect p.R9fs
RettBASE_c.27-96_1205del phenoCommon Rett syndrome - not certain
RettBASE_c.27-4722_*739delins43 protEffect p.R9fs
RettBASE_c.27-4722_*739delins43 phenoCommon Rett syndrome - not certain
RettBASE_c.27-4722_*112delinsCACTTTGTG protEffect p.R9fs
RettBASE_c.27-4722_*112delinsCACTTTGTG phenoCommon Rett syndrome - not certain
RettBASE_c.27-6026_1190delinsGT protEffect p.R9fs
RettBASE_c.27-6026_1190delinsGT phenoCommon Rett syndrome - not certain
RettBASE_c.27-3928_1184del protEffect p.R9fs
RettBASE_c.27-3928_1184del phenoCommon Rett syndrome - not certain
RettBASE_c.27-5774_902delinsGTGCCCGGACTGATGTCA protEffect p.R9fs
RettBASE_c.27-5774_902delinsGTGCCCGGACTGATGTCA phenoCommon Rett syndrome - not certain
RettBASE_c.27-?_378+?del protEffect p.R9fs
RettBASE_c.27-?_378+?del phenoCommon Rett syndrome - not certain
RettBASE_c.27-?_1021+?del protEffect p.R9fs
RettBASE_c.27-?_1021+?del phenoCommon Rett syndrome - not certain
RettBASE_c.27-?_1170+?del protEffect p.R9fs
RettBASE_c.27-?_1170+?del phenoCommon Rett syndrome - not certain
RettBASE_c.27-?_1018+?del protEffect p.R9fs
RettBASE_c.27-?_1018+?del phenoCommon Rett syndrome - classical
RettBASE_c.27-?_1397+?del protEffect p.R9fs
RettBASE_c.27-?_1397+?del phenoCommon Rett syndrome - classical
RettBASE_c.28G>C protEffect p.E10Q
RettBASE_c.28G>C phenoCommon Rett syndrome - forme fruste
RettBASE_c.28G>T protEffect p.E10X
RettBASE_c.28G>T phenoCommon Rett syndrome - not certain
RettBASE_MECP2_e1:c.30delCinsGA commonName MECP2_e1: c.30delCinsGA
RettBASE_MECP2_e1:c.30delCinsGA phenoCommon Rett syndrome - Classical
RettBASE_c.35_42dup protEffect p.D15fs
RettBASE_c.35_42dup phenoCommon Rett syndrome - Classical
RettBASE_c.36G>C protEffect p.K12N
RettBASE_c.36G>C phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.39delT commonName CDKL5: c.39delT
RettBASE_CDKL5:c.39delT phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_MECP2_e1:c.42_47dupAGGAGG commonName MECP2_e1: c.42_47dupAGGAGG
RettBASE_MECP2_e1:c.42_47dupAGGAGG phenoCommon Rett syndrome - not certain
RettBASE_MECP2_e1:c.45_47dupAGG commonName MECP2_e1: c.45_47dupAGG
RettBASE_c.46C>T protEffect p.Q16X
RettBASE_MECP2_e1:c.47_57del11 commonName MECP2_e1: c.47_57del11
RettBASE_MECP2_e1:c.47_57del11 phenoCommon Rett syndrome - atypical
RettBASE_MECP2_e1:c.48_55dup commonName MECP2_e1: c.48_55dup
RettBASE_MECP2_e1:c.48_55dup phenoCommon Rett syndrome - classical
RettBASE_MECP2_e1:c.49G>A commonName MECP2_e1: c.49G>A
RettBASE_MECP2_e1:c.49G>A phenoCommon Not Rett synd. - non-specific mental retardation
RettBASE_c.50dupA protEffect p.D17fs
RettBASE_c.50dupA phenoCommon Rett syndrome - classical
RettBASE_c.55C>T protEffect p.Q19X
RettBASE_c.55C>T phenoCommon Rett syndrome - Atypical
RettBASE_c.56dupA protEffect p.L21fs
RettBASE_CDKL5:c.58G>C commonName CDKL5: c.58G>C
RettBASE_CDKL5:c.58G>C phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_MECP2_e1:c.59_60delGA commonName MECP2_e1: c.59_60delGA
RettBASE_MECP2_e1:c.59_60delGA phenoCommon Rett syndrome - classical
RettBASE_MECP2_e1:c.62+2_62+3delTG commonName MECP2_e1: c.62+2_62+3delTG
RettBASE_MECP2_e1:c.62+2_62+3delTG phenoCommon Rett syndrome - classical
RettBASE_MECP2_e1:c.62+1G>A commonName MECP2_e1: c.62+1G>A
RettBASE_MECP2_e1:c.62+1G>A phenoCommon Rett syndrome - classical
RettBASE_c.64A>T protEffect p.K22X
RettBASE_c.64A>T phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.64+2delT commonName CDKL5: c.64+2delT
RettBASE_CDKL5:c.64+2delT phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy
RettBASE_CDKL5:c.65dupG commonName CDKL5:c.65dupG
RettBASE_c.76delC protEffect p.L26fs
RettBASE_c.76delC phenoCommon Rett syndrome - Classical
RettBASE_c.91delG protEffect p.V31X
RettBASE_c.91delG phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.99+1G>T commonName CDKL5: c.99+1G>T
RettBASE_CDKL5:c.99+1G>T phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy
RettBASE_CDKL5:c.99+29T>G commonName CDKL5: c.99+29T>G
RettBASE_c.100_103delGATA protEffect p.D34fs
RettBASE_c.100_103delGATA phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.100-2A>G commonName CDKL5: c.100-2A>G
RettBASE_CDKL5:c.100-2A>G phenoCommon Not Rett synd. - early-onset encephalopathy
RettBASE_c.107_113del7 protEffect p.K36fs
RettBASE_c.107_113del7 phenoCommon Rett syndrome - not certain
RettBASE_c.107_108delAA protEffect p.K36fs
RettBASE_c.107_108delAA phenoCommon Rett syndrome - classical
RettBASE_c.108_111delAGAA protEffect p.E37fs
RettBASE_c.108_111delAGAA phenoCommon Rett syndrome - Not certain
RettBASE_c.117dupA protEffect p.E40fs
RettBASE_c.117dupA phenoCommon Rett syndrome - not certain
RettBASE_c.119_120delAG protEffect p.E40fs
RettBASE_c.119_120delAG phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.119C>T commonName CDKL5: c.119C>T
RettBASE_CDKL5:c.119C>T phenoCommon Rett syndrome - early seizure
RettBASE_CDKL5:c.125A>G commonName CDKL5:c.125A>G
RettBASE_c.126dupG protEffect p.H43fs
RettBASE_c.126dupG phenoCommon Rett syndrome - Atypical
RettBASE_c.140dupA protEffect p.P48fs
RettBASE_c.140dupA phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.145+2T>C commonName CDKL5: c.145+2T>C
RettBASE_CDKL5:c.145+2T>C phenoCommon Rett syndrome - early-onset seizure
RettBASE_CDKL5:c.145+4AT(11_13) commonName CDKL5: c.145+4AT(11_13)
RettBASE_c.146C>A protEffect p.S49X
RettBASE_c.146C>A phenoCommon Rett syndrome - Not certain
RettBASE_c.146C>G protEffect p.S49X
RettBASE_c.153C>G protEffect p.H51Q
RettBASE_c.153C>G phenoCommon Not Rett synd. - unaffected family member
RettBASE_c.155A>G protEffect p.H52R
RettBASE_c.155A>G phenoCommon Not Rett synd. - not certain
RettBASE_CDKL5:c.163_166delGAAA commonName CDKL5: c.163_166delGAAA
RettBASE_CDKL5:c.163_166delGAAA phenoCommon Rett syndrome - early seizure
RettBASE_c.167_168delCC protEffect p.P56fs
RettBASE_c.168C>T protEffect p.P56P
RettBASE_c.168C>T phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.175C>T commonName CDKL5: c.175C>T
RettBASE_CDKL5:c.175C>T phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.183delT commonName CDKL5: c.183delT
RettBASE_CDKL5:c.183delT phenoCommon Rett syndrome - Atypical
RettBASE_c.189_190delGA protEffect p.E63fs
RettBASE_c.189_190delGA phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.191T>C commonName CDKL5: c.191T>C
RettBASE_CDKL5:c.191T>C phenoCommon Not Rett synd. - severe encephalopathy and early-onset seizures
RettBASE_c.194C>G protEffect p.S65X
RettBASE_CDKL5:c.194G>A commonName CDKL5: c.194G>A
RettBASE_CDKL5:c.194G>A phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.199C>T commonName CDKL5:c.199C>T
RettBASE_c.201delG protEffect p.S68fs
RettBASE_c.201delG phenoCommon Rett syndrome - Not certain
RettBASE_c.203C>G protEffect p.S68X
RettBASE_c.203C>G phenoCommon Rett syndrome - classical
RettBASE_c.210C>T protEffect p.S70S
RettBASE_c.215C>T protEffect p.P72L
RettBASE_CDKL5:c.215T>A commonName CDKL5: c.215T>A
RettBASE_CDKL5:c.215T>A phenoCommon Rett syndrome - atypical
RettBASE_c.215dupC protEffect p.A73fs
RettBASE_c.215dupC phenoCommon Rett syndrome - classical
RettBASE_c.215_216insT protEffect p.A73fs
RettBASE_c.215_216insT phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.215T>C commonName CDKL5: c.215T>C
RettBASE_CDKL5:c.215T>C phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.216T>A commonName CDKL5: c.216T>A
RettBASE_CDKL5:c.216T>A phenoCommon Rett syndrome - atypical
RettBASE_c.224C>T protEffect p. P75L
RettBASE_c.225G>A protEffect p.P75P
RettBASE_c.225G>A phenoCommon Not Rett synd. - mental retardation
RettBASE_c.229_238del10 protEffect p.A77fs
RettBASE_CDKL5:c.229_232delGAAG commonName CDKL5: c.229_232delGAAG
RettBASE_CDKL5:c.229_232delGAAG phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy
RettBASE_c.233delC protEffect p.S78fs
RettBASE_c.233delC phenoCommon Rett syndrome - classical
RettBASE_c.243dupC protEffect p.K82fs
RettBASE_c.243dupC phenoCommon Rett syndrome - classical
RettBASE_c.245A>G protEffect p.K82R
RettBASE_c.245A>G phenoCommon Not Rett synd. - Non-Rett syndrome control
RettBASE_c.249_250ins7 protEffect p.R84fs
RettBASE_c.257C>G protEffect p.S86C
RettBASE_c.257C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.258_259delCA protEffect p.I87fs
RettBASE_c.258_259delCA phenoCommon Rett syndrome - Not certain
RettBASE_FOXG1:c.263_278del16 commonName FOXG1:c.263_278del16
RettBASE_c.274G>T protEffect p.G92X
RettBASE_c.274G>T phenoCommon Rett syndrome - classical
RettBASE_c.275dupG protEffect p.P93fs
RettBASE_c.275dupG phenoCommon Rett syndrome - not certain
RettBASE_c.277C>T protEffect p.P93S
RettBASE_c.277C>T phenoCommon Rett syndrome - Classical
RettBASE_c.279C>T protEffect p.P93P
RettBASE_c.279C>T phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.283-43G>A commonName CDKL5: c.283-43G>A
RettBASE_CDKL5:c.283-99C>A commonName CDKL5: c.283-99C>A
RettBASE_CDKL5:c.283-99C>A phenoCommon Not known - infantile intractable epilepsy
RettBASE_c.289G>T protEffect p.D97Y
RettBASE_c.289G>T phenoCommon Rett syndrome - Not certain
RettBASE_c.291C>A protEffect p.D97E
RettBASE_c.291C>A phenoCommon Rett syndrome - Not certain
RettBASE_c.295_297delACC protEffect p.T99del
RettBASE_c.295_297delACC phenoCommon Rett syndrome - classical
RettBASE_c.297C>G protEffect p.T99T
RettBASE_c.297C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.298C>G protEffect p.L100V
RettBASE_c.298C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.299T>G protEffect p.L100R
RettBASE_c.299T>G phenoCommon Rett syndrome - classical
RettBASE_c.301C>T protEffect p.P101S
RettBASE_c.301C>T phenoCommon Rett syndrome - Classical
RettBASE_c.302C>G protEffect p.P101R
RettBASE_c.302C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.302C>A protEffect p.P101H
RettBASE_c.302C>A phenoCommon Rett syndrome - Classical
RettBASE_c.302C>T protEffect p.P101L
RettBASE_c.302C>T phenoCommon Rett syndrome - Classical
RettBASE_c.308G>A protEffect p.G103D
RettBASE_c.308G>A phenoCommon Rett syndrome - atypical
RettBASE_c.310T>C protEffect p.W104R
RettBASE_c.310T>C phenoCommon Rett syndrome - not certain
RettBASE_c.311_323del13 protEffect p.W104fs
RettBASE_c.311_323del13 phenoCommon Rett syndrome - Atypical
RettBASE_c.311G>A protEffect p.W104X
RettBASE_c.311G>A phenoCommon Rett syndrome - Classical
RettBASE_c.315dupA protEffect p.R106fs
RettBASE_c.315dupA phenoCommon Rett syndrome - classical
RettBASE_c.316C>G protEffect p.R106G
RettBASE_c.316C>G phenoCommon Rett syndrome - Classical
RettBASE_c.317G>A protEffect p.R106Q
RettBASE_c.317G>A phenoCommon Rett syndrome - Classical
RettBASE_c.317G>T protEffect p.R106L
RettBASE_c.317G>T phenoCommon Rett syndrome - Classical
RettBASE_c.323T>A protEffect p.L108H
RettBASE_c.323T>A phenoCommon Rett syndrome - Classical
RettBASE_c.326dupA protEffect p.Q110fs
RettBASE_c.326dupA phenoCommon Rett syndrome - Classical
RettBASE_c.331A>G protEffect p.R111G
RettBASE_c.331A>G phenoCommon Rett syndrome - Not certain
RettBASE_c.341G>C protEffect p.G114A
RettBASE_c.341G>C phenoCommon Rett syndrome - Not certain
RettBASE_c.343_1182del1596 protEffect p.R115_E394del
RettBASE_c.343_1182del1596 phenoCommon Rett syndrome - not certain
RettBASE_c.345delC protEffect p.S116fs
RettBASE_c.345delC phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.352C>T commonName CDKL5: c.352C>T
RettBASE_CDKL5:c.352C>T phenoCommon Rett syndrome - atypical
RettBASE_c.358T>G protEffect p.Y120D
RettBASE_c.358T>G phenoCommon Rett syndrome - not certain
RettBASE_c.362A>G protEffect p.D121G
RettBASE_c.364G>A protEffect p.V122M
RettBASE_c.364G>A phenoCommon Rett syndrome - not certain
RettBASE_c.365T>C protEffect p.V122A
RettBASE_c.365T>C phenoCommon Not Rett synd.
RettBASE_c.372G>C protEffect p.L124F
RettBASE_c.372G>C phenoCommon Rett syndrome - Classical
RettBASE_c.372G>T protEffect p.L124F
RettBASE_c.372G>T phenoCommon Rett syndrome - classical
RettBASE_c.375delC protEffect p.N126fs
RettBASE_c.375delC phenoCommon Rett syndrome - Classical
RettBASE_c.375C>A protEffect p.I125I
RettBASE_c.375C>A phenoCommon Rett syndrome - Not certain
RettBASE_c.377+2T>G phenoCommon Rett syndrome - Not certain
RettBASE_c.377+6_377+9del phenoCommon Not Rett synd. - autism only
RettBASE_c.377+95G>A phenoCommon Not Rett synd. - autism only
RettBASE_c.377+18C>G phenoCommon Not Rett synd. - Autism
RettBASE_c.377+24C>A phenoCommon Not Rett synd. - mental retardation
RettBASE_c.377+1G>T phenoCommon Rett syndrome - classical
RettBASE_c.377+266T>C phenoCommon Not Rett synd. - unaffected family member
RettBASE_c.377+1G>A phenoCommon Rett syndrome - Classical
RettBASE_c.378-2A>G phenoCommon Rett syndrome - Not certain
RettBASE_c.378-2A>C phenoCommon Rett syndrome - Not certain
RettBASE_c.378-241C>T phenoCommon Rett syndrome - Classical
RettBASE_c.378-3C>G phenoCommon Rett syndrome - Classical
RettBASE_c.378-?_1337+?del protEffect p.N126fs
RettBASE_c.378-?_1337+?del phenoCommon Rett syndrome - classical
RettBASE_c.378-?_1185+?del protEffect p.N126fs
RettBASE_c.378-?_1185+?del phenoCommon Rett syndrome - classical
RettBASE_c.378-2A>T phenoCommon Rett syndrome - not certain
RettBASE_c.378-?_1170+?del protEffect p.N126fs
RettBASE_c.378-?_1170+?del phenoCommon Rett syndrome - not certain
RettBASE_c.378-3_383del9 protEffect p.N126KfsX11
RettBASE_c.378-3_383del9 phenoCommon Not Rett synd. - Severe congenital encephalopathy
RettBASE_c.378-109A>G phenoCommon Rett syndrome - Atypical
RettBASE_c.378-14G>A phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.380A>G commonName CDKL5: c.380A>G
RettBASE_CDKL5:c.380A>G phenoCommon Rett syndrome - not specified
RettBASE_c.382C>T protEffect p.Q128X
RettBASE_c.382C>T phenoCommon Rett syndrome - not certain
RettBASE_c.382_1189del808 protEffect p.Q128fs
RettBASE_c.382_1189del808 phenoCommon Rett syndrome - not certain
RettBASE_c.383A>C protEffect p.Q128P
RettBASE_c.383A>C phenoCommon Rett syndrome - late regression
RettBASE_c.386G>T protEffect p.G129V
RettBASE_c.392C>A protEffect p.A131D
RettBASE_c.392C>A phenoCommon Rett syndrome - classical
RettBASE_c.393C>G protEffect p.A131A
RettBASE_c.393C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.397C>G protEffect p.R133G
RettBASE_c.398G>A protEffect p.R133H
RettBASE_c.398G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.400T>C protEffect p.S134P
RettBASE_c.400T>C phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.400C>T commonName CDKL5: c.400C>T
RettBASE_CDKL5:c.400C>T phenoCommon Not Rett synd. - early-onset seizures and mental retardation
RettBASE_c.401C>G protEffect p.S134C
RettBASE_c.401C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.401C>T protEffect p.S134F
RettBASE_c.403A>G protEffect p.K135E
RettBASE_c.403A>G phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.403+49_403+53delTTAAG commonName CDKL5: c.403+49_403+53delTTAAG
RettBASE_CDKL5:c.403+49_403+53delTTAAG phenoCommon Not Rett synd. - Early-onset myoclonic epilepsy
RettBASE_CDKL5:c.404-1G>T commonName CDKL5: c.404-1G>T
RettBASE_CDKL5:c.404-1G>T phenoCommon Not Rett synd. - X-linked West syndrome
RettBASE_c.410A>G protEffect p.E137G
RettBASE_c.410A>G phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.411delG protEffect p.E137fs
RettBASE_c.411delG phenoCommon Rett syndrome - Not certain
RettBASE_c.413T>A protEffect p.L138X
RettBASE_c.413T>A phenoCommon Rett syndrome - not certain
RettBASE_c.413T>C protEffect p.L138S
RettBASE_c.413T>C phenoCommon Rett syndrome - classical
RettBASE_c.419C>T protEffect p.A140V
RettBASE_c.419C>T phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.420delG protEffect p.Y141fs
RettBASE_c.420delG phenoCommon Rett syndrome - Classical
RettBASE_c.422dupA protEffect p.Y141X
RettBASE_c.422A>G protEffect p.Y141C
RettBASE_c.422A>G phenoCommon Rett syndrome - Atypical
RettBASE_c.423C>G protEffect p.Y141X
RettBASE_c.423C>G phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.425T>A commonName CDKL5: c.425T>A
RettBASE_CDKL5:c.425T>A phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy
RettBASE_c.428_429insT protEffect p.E143fs
RettBASE_c.428_429insT phenoCommon Rett syndrome - Not certain
RettBASE_c.430A>T protEffect p.K144X
RettBASE_c.430A>T phenoCommon Rett syndrome - Not certain
RettBASE_c.431delA protEffect p.K144fs
RettBASE_c.431delA phenoCommon Rett syndrome - Classical
RettBASE_c.439delG protEffect p.D147fs
RettBASE_c.439delG phenoCommon Rett syndrome - Not certain
RettBASE_c.451delG protEffect p.D151fs
RettBASE_c.451delG phenoCommon Rett syndrome - atypical
RettBASE_c.452A>G protEffect p.D151G
RettBASE_c.452A>G phenoCommon Rett syndrome - atypical
RettBASE_c.454C>G protEffect p.P152A
RettBASE_c.454C>G phenoCommon Not Rett synd. - Pervasive developmental disorder-not otherwise specified
RettBASE_CDKL5:c.455G>T commonName CDKL5: c.455G>T
RettBASE_CDKL5:c.455G>T phenoCommon Rett syndrome - Not certain
RettBASE_FOXG1:c.460dupG commonName FOXG1: c.460dupG
RettBASE_FOXG1:c.460dupG phenoCommon Rett syndrome - congenital
RettBASE_c.463T>A protEffect p.F155I
RettBASE_c.463T>A phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.463+22T>C commonName CDKL5: c.463+22T>C
RettBASE_CDKL5:c.463+1G>A commonName CDKL5: c.463+1G>A
RettBASE_CDKL5:c.463+1G>A phenoCommon Rett syndrome - atypical
RettBASE_c.464T>C protEffect p.F155S
RettBASE_c.464T>C phenoCommon Rett syndrome - Classical
RettBASE_c.464T>G protEffect p.F155C
RettBASE_c.464T>G phenoCommon Rett syndrome - Atypical
RettBASE_CDKL5:c.464-2A>G commonName CDKL5: c.464-2A>G
RettBASE_CDKL5:c.464-2A>G phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.464-40_464-37delCTTT commonName CDKL5: c.464-40_464-37delCTTT
RettBASE_c.467A>G protEffect p.D156G
RettBASE_c.467A>G phenoCommon Rett syndrome - Not certain
RettBASE_c.467A>C protEffect p.D156A
RettBASE_c.467A>C phenoCommon Rett syndrome - classical
RettBASE_c.468C>T protEffect p.D156E
RettBASE_c.468C>T phenoCommon Rett syndrome - not certain
RettBASE_c.469T>A protEffect p.F157I
RettBASE_c.469T>A phenoCommon Rett syndrome - Not certain
RettBASE_c.470dupT protEffect p.T158fs
RettBASE_c.470dupT phenoCommon Rett syndrome - Not certain
RettBASE_c.470_471delTC protEffect p.F157fs
RettBASE_c.470_471delTC phenoCommon Rett syndrome - preserved speech
RettBASE_c.471C>G protEffect p.F157L
RettBASE_c.471C>G phenoCommon Rett syndrome - classical
RettBASE_c.472A>G protEffect p.T158A
RettBASE_c.472A>G phenoCommon Rett syndrome - Preserved speech
RettBASE_c.474G>A protEffect p.T158T
RettBASE_c.474G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.475delG protEffect p.V159X
RettBASE_c.475delG phenoCommon Rett syndrome - not certain
RettBASE_c.479C>G protEffect p.T160S
RettBASE_c.480_481delTG protEffect p.G161fs
RettBASE_c.480_481delTG phenoCommon Rett syndrome - Atypical
RettBASE_c.480delT protEffect p.R162fs
RettBASE_c.480delT phenoCommon Rett syndrome - not certain
RettBASE_c.481G>T protEffect p.G161W
RettBASE_c.481G>T phenoCommon Rett syndrome - Not certain
RettBASE_c.481_987del507ins8 protEffect p.G161fs
RettBASE_c.481_987del507ins8 phenoCommon Rett syndrome - Classical
RettBASE_c.482G>T protEffect p.G161V
RettBASE_c.482G>T phenoCommon Rett syndrome - atypical
RettBASE_c.482G>A protEffect p.G161E
RettBASE_c.482G>A phenoCommon Rett syndrome - classical
RettBASE_c.483delG protEffect p.R162fs
RettBASE_c.483delG phenoCommon Rett syndrome - Not certain
RettBASE_c.484dupA protEffect p.R162fs
RettBASE_c.484dupA phenoCommon Rett syndrome - classical
RettBASE_c.488_489delGG protEffect p.G163fs
RettBASE_c.488_489delGG phenoCommon Not Rett synd. - Progressive encephalopathy of neonatal onset
RettBASE_c.488_1189del702 protEffect p.G163_S392del
RettBASE_c.488_1189del702 phenoCommon Rett syndrome - not certain
RettBASE_c.495delC protEffect p.G166fs
RettBASE_c.499C>T protEffect p.R167W
RettBASE_c.499C>T phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.508C>T protEffect p.Q170X
RettBASE_c.508C>T phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.513C>A commonName CDKL5:c.513C>A
RettBASE_c.514C>T protEffect p.P172S
RettBASE_c.514C>T phenoCommon Not Rett synd. - mental retardation and autism combined
RettBASE_c.515C>T protEffect p.P172L
RettBASE_c.515C>T phenoCommon Not Rett synd. - sporadic mental retardation
RettBASE_c.517C>G protEffect p.P173A
RettBASE_c.517C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.518C>G protEffect p.P173R
RettBASE_c.523A>T protEffect p.K175X
RettBASE_CDKL5:c.525A>T commonName CDKL5: c.525A>T
RettBASE_CDKL5:c.525A>T phenoCommon Rett syndrome - Not certain
RettBASE_c.527C>G protEffect p.P176R
RettBASE_c.527C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.529A>T protEffect p.K177X
RettBASE_c.531delA protEffect p.K177fs
RettBASE_c.531delA phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.532C>T commonName CDKL5: c.532C>T
RettBASE_CDKL5:c.532C>T phenoCommon Rett syndrome - congenital onset
RettBASE_CDKL5:c.533G>C commonName CDKL5: c.533G>C
RettBASE_CDKL5:c.533G>C phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures
RettBASE_CDKL5:c.533G>A commonName CDKL5: c.533G>A
RettBASE_CDKL5:c.533G>A phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.538A>T protEffect p.K180X
RettBASE_c.538A>T phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.539C>T commonName CDKL5: c.539C>T
RettBASE_CDKL5:c.539C>T phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.542C>T protEffect p.A181V
RettBASE_c.542C>T phenoCommon Not Rett synd. - autism only
RettBASE_c.543_544delTC protEffect p.P182fs
RettBASE_c.543_544delTC phenoCommon Rett syndrome - classical
RettBASE_c.547G>C protEffect p.G183R
RettBASE_c.547G>C phenoCommon Not Rett synd. - mental retardation
RettBASE_CDKL5:c.549dupA commonName CDKL5:c.549dupA
RettBASE_c.554delG protEffect p.G185fs
RettBASE_c.554delG phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.554+11G>A commonName CDKL5: c.554+11G>A
RettBASE_CDKL5:c.554+11G>A phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.555-19C>G commonName CDKL5: c.555-19C>G
RettBASE_CDKL5:c.555-19C>G phenoCommon Not Rett synd. - not certain
RettBASE_c.566delG protEffect p.G189fs
RettBASE_c.566delG phenoCommon Rett syndrome - Classical
RettBASE_c.566dupG protEffect p.R190fs
RettBASE_c.566dupG phenoCommon Rett syndrome - Classical
RettBASE_c.567dupA protEffect p.R190fs
RettBASE_c.567dupA phenoCommon Rett syndrome - Not certain
RettBASE_c.573C>T protEffect p.P191P
RettBASE_c.573C>T phenoCommon Not Rett synd. - mental retardation
RettBASE_CDKL5:c.578A>G commonName CDKL5:c.578A>G
RettBASE_c.585C>T protEffect p.G195G
RettBASE_c.587C>G protEffect p.T196S
RettBASE_c.587C>G phenoCommon Not Rett synd. - Schizophrenia
RettBASE_CDKL5:c.587C>T commonName CDKL5:c.587C>T
RettBASE_c.591G>A protEffect p.T197T
RettBASE_c.591G>A phenoCommon Not Rett synd. - autism only
RettBASE_c.592A>T protEffect p.R198X
RettBASE_c.592A>T phenoCommon Rett syndrome - Classical
RettBASE_c.596C>A protEffect p.P199H
RettBASE_c.596C>A phenoCommon Not Rett synd. - schizophrenia
RettBASE_c.598A>T protEffect p.K200X
RettBASE_c.598A>T phenoCommon Rett syndrome - Classical
RettBASE_c.601dupG protEffect p.A201fs
RettBASE_c.601dupG phenoCommon Rett syndrome - Not certain
RettBASE_c.603G>A protEffect p.A201A
RettBASE_c.603G>A phenoCommon Not Rett synd. - normal control
RettBASE_CDKL5:c.607G>T commonName CDKL5: c.607G>T
RettBASE_CDKL5:c.607G>T phenoCommon Rett syndrome - early seizure
RettBASE_c.608_609insA protEffect p.S204fs
RettBASE_c.608_609insA phenoCommon Rett syndrome - not certain
RettBASE_c.611C>G protEffect p.S204X
RettBASE_c.611C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.611_612delinsAG protEffect p.S204X
RettBASE_c.611_612delinsAG phenoCommon Rett syndrome - Not certain
RettBASE_c.613G>T protEffect p.E205X
RettBASE_c.613G>T phenoCommon Rett syndrome - Not certain
RettBASE_c.616_1122del507 protEffect p.G206_E374del
RettBASE_c.616_1122del507 phenoCommon Rett syndrome - classical
RettBASE_c.617delG protEffect p.G206fs
RettBASE_c.617delG phenoCommon Rett syndrome - Classical
RettBASE_c.617G>C protEffect p.G206A
RettBASE_c.617G>C phenoCommon Not Rett synd. - Autism
RettBASE_c.617G>A protEffect p.V209V
RettBASE_c.617G>A phenoCommon Not Rett synd. - normal control
RettBASE_c.620dupT protEffect p.Q208fs
RettBASE_c.620dupT phenoCommon Rett syndrome - Classical
RettBASE_c.622C>T protEffect p.Q208X
RettBASE_c.622C>T phenoCommon Rett syndrome - Classical
RettBASE_c.629A>T protEffect p.K210I
RettBASE_c.629A>T phenoCommon Rett syndrome - Not certain
RettBASE_c.631-?_657+?del protEffect p.?
RettBASE_c.631-?_657+?del phenoCommon Rett syndrome - classical
RettBASE_c.631-?_657+?dup protEffect p.?
RettBASE_c.631-?_657+?dup phenoCommon Rett syndrome - preserved speech
RettBASE_c.633G>C protEffect p.R211S
RettBASE_c.633G>C phenoCommon Rett syndrome - Classical
RettBASE_c.635_655del21 protEffect p.V212_K219delinsE
RettBASE_c.635_655del21 phenoCommon Rett syndrome - Not certain
RettBASE_c.651_652delTG protEffect p.G218fs
RettBASE_c.654_657delGAAG protEffect p.K219fs
RettBASE_c.654_657delGAAG phenoCommon Rett syndrome - Classical
RettBASE_CDKL5:c.659T>C commonName CDKL5: c.659T>C
RettBASE_CDKL5:c.659T>C phenoCommon Not Rett synd. - severe epileptic encephalopathy with infantile spasms
RettBASE_c.660C>T protEffect p.L220L
RettBASE_c.660C>T phenoCommon Not Rett synd. - autism
RettBASE_c.666C>G protEffect p.V222V
RettBASE_c.666C>G phenoCommon Rett syndrome - Preserved speech
RettBASE_c.673C>A protEffect p.P225T
RettBASE_c.674C>T protEffect p.P225L
RettBASE_c.674C>T phenoCommon Rett syndrome - Male variant
RettBASE_c.676_677insA protEffect p.F226fs
RettBASE_c.676_677insA phenoCommon Rett syndrome - not certain
RettBASE_c.677_678insA protEffect p.F226fs
RettBASE_c.677_678insA phenoCommon Rett syndrome - Classical
RettBASE_c.679C>G protEffect p.Q227E
RettBASE_c.679C>G phenoCommon Not Rett synd. - sporadic mental retardation
RettBASE_CDKL5:c.680T>G commonName CDKL5: c.680T>G
RettBASE_CDKL5:c.680T>G phenoCommon Not Rett synd. - early-onset encephalopathy
RettBASE_c.686C>T protEffect p.S229L
RettBASE_c.686C>T phenoCommon Rett syndrome - Classical
RettBASE_c.686C>A protEffect p.S229X
RettBASE_c.689_756del68 protEffect p.P230fs
RettBASE_c.690A>C protEffect p.P230P
RettBASE_c.695delG protEffect p.G232fs
RettBASE_c.695delG phenoCommon Rett syndrome - Classical
RettBASE_c.695dupG protEffect p.K233fs
RettBASE_c.695dupG phenoCommon Rett syndrome - not certain
RettBASE_c.696delC protEffect p.K233fs
RettBASE_c.696delC phenoCommon Rett syndrome - Classical
RettBASE_c.710dupG protEffect p.G238fs
RettBASE_c.710dupG phenoCommon Rett syndrome - Not certain
RettBASE_c.710delG protEffect p.G237fs
RettBASE_c.710delG phenoCommon Rett syndrome - Not certain
RettBASE_c.711_1269del559 protEffect p.G238fs
RettBASE_c.711_1269del559 phenoCommon Rett syndrome - not certain
RettBASE_c.715delG protEffect p.A239fs
RettBASE_c.720dupC protEffect p.T241fs
RettBASE_c.720dupC phenoCommon Rett syndrome - Not certain
RettBASE_c.720C>T protEffect p.T240T
RettBASE_c.720C>G protEffect p.T240T
RettBASE_c.720C>G phenoCommon Not Rett synd. - autism only
RettBASE_c.730C>T protEffect p.Q244X
RettBASE_c.730C>T phenoCommon Rett syndrome - Not certain
RettBASE_FOXG1:c.730C>T commonName FOXG1: c.730C>T
RettBASE_FOXG1:c.730C>T phenoCommon Rett syndrome - congenital
RettBASE_c.731_1166del436 protEffect p.Q244fs
RettBASE_c.731_1166del436 phenoCommon Rett syndrome - Not certain
RettBASE_c.734_759del26 protEffect p.V245fs
RettBASE_c.734_759del26 phenoCommon Rett syndrome - classical
RettBASE_c.736_737insAT protEffect p.M246fs
RettBASE_c.736_737insAT phenoCommon Rett syndrome - Classical
RettBASE_c.736_743delinsGTG protEffect p.M246fs
RettBASE_c.739delG protEffect p.V247fs
RettBASE_c.739delG phenoCommon Rett syndrome - classical
RettBASE_c.747_751dup5 protEffect p.P251fs
RettBASE_c.747_751dup5 phenoCommon Rett syndrome - Not certain
RettBASE_c.748dupC protEffect p.R250fs
RettBASE_c.748dupC phenoCommon Rett syndrome - Not certain
RettBASE_c.748_753del6insGGCCG protEffect p.R250fs
RettBASE_c.748_753del6insGGCCG phenoCommon Rett syndrome - Not certain
RettBASE_c.748_749insT protEffect p.R250fs
RettBASE_c.748_749insT phenoCommon Rett syndrome - not certain
RettBASE_c.749G>A protEffect p.R250H
RettBASE_c.749G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.750_750delCinsTCAGGAAGCTT protEffect p.P251fs
RettBASE_c.750_750delCinsTCAGGAAGCTT phenoCommon Rett syndrome - Not certain
RettBASE_c.752_753dup protEffect p.G252fs
RettBASE_c.752_753dup phenoCommon Rett syndrome - Not certain
RettBASE_c.752_753dupCC protEffect p.G252fs
RettBASE_c.753dupC protEffect p.G252fs
RettBASE_c.753dupC phenoCommon Rett syndrome - Not certain
RettBASE_c.753delC protEffect p.G252fs
RettBASE_c.753delC phenoCommon Rett syndrome - Not certain
RettBASE_c.753C>T protEffect p.P251P
RettBASE_c.753C>T phenoCommon Rett syndrome - classical
RettBASE_c.755delG protEffect p.G252fs
RettBASE_c.755delG phenoCommon Rett syndrome - atypical
RettBASE_c.755dupG protEffect p.R253fs
RettBASE_c.755dupG phenoCommon Rett syndrome - classical
RettBASE_FOXG1:c.755G>T commonName FOXG1:c.755G>T
RettBASE_c.756_759delCAGG protEffect p.R253fs
RettBASE_c.756_759delCAGG phenoCommon Rett syndrome - Classical
RettBASE_c.756_763dup protEffect p.R255fs
RettBASE_c.756_763dup phenoCommon Rett syndrome - classical
RettBASE_FOXG1:c.757A>G commonName FOXG1:c.757A>G
RettBASE_c.760A>T protEffect p.K254X
RettBASE_c.763_1383del621ins15 protEffect p.R255_I461delins5
RettBASE_c.764_765ins8 protEffect p.R255fs
RettBASE_c.766_779dup14 protEffect p.D260fs
RettBASE_c.766_779dup14 phenoCommon Rett syndrome - classical
RettBASE_c.784C>T protEffect p.Q262X
RettBASE_c.784C>T phenoCommon Rett syndrome - classical
RettBASE_c.792_793delTC protEffect p.P265fs
RettBASE_c.792_793delTC phenoCommon Rett syndrome - Not certain
RettBASE_c.795C>G protEffect p.P265P
RettBASE_c.795C>G phenoCommon Rett syndrome - atypical
RettBASE_c.799A>T protEffect p.K267X
RettBASE_c.799A>T phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.801_802delTA commonName CDKL5: c.801_802delTA
RettBASE_CDKL5:c.801_802delTA phenoCommon Not Rett synd. - ISSX
RettBASE_c.807_*125del780 protEffect p.R270_S486delinsQ
RettBASE_c.808delC protEffect p.R270fs
RettBASE_c.808delC phenoCommon Rett syndrome - Not certain
RettBASE_c.810_813delAAAG protEffect p.K271fs
RettBASE_c.810_813delAAAG phenoCommon Rett syndrome - classical
RettBASE_c.812_818del7 protEffect p.K271fs
RettBASE_c.812_818del7 phenoCommon Rett syndrome - Classical
RettBASE_c.815C>T protEffect p.P272L
RettBASE_c.815C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.816_832del17 protEffect p.G273fs
RettBASE_c.816_832del17 phenoCommon Rett syndrome - Classical
RettBASE_c.819delG protEffect p.S274fs
RettBASE_c.822_1184del363 protEffect p.V275_S396del
RettBASE_c.822_1184del363 phenoCommon Rett syndrome - not certain
RettBASE_c.830delC protEffect p.A277fs
RettBASE_c.830delC phenoCommon Rett syndrome - classical
RettBASE_c.830_831ins23 protEffect p.A277fs
RettBASE_c.830_831ins23 phenoCommon Rett syndrome - not certain
RettBASE_c.834_939del106 protEffect p.A279fs
RettBASE_c.836C>T protEffect p.A279V
RettBASE_c.836C>T phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.838_847del10 commonName CDKL5: c.838_847del10
RettBASE_CDKL5:c.838_847del10 phenoCommon Rett syndrome - atypical
RettBASE_c.840C>T protEffect p.A280A
RettBASE_c.840C>T phenoCommon Not Rett synd. - Unaffected family member
RettBASE_c.843C>T protEffect p.A281A
RettBASE_c.843C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.849_1236del388 protEffect p.K284fs
RettBASE_c.849_1236del388 phenoCommon Rett syndrome - Not certain
RettBASE_c.849C>G protEffect p.A283A
RettBASE_c.849C>G phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.850A>G protEffect p.K284E
RettBASE_c.850A>G phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.851_1188del338 protEffect p.K284fs
RettBASE_c.851_1188del338 phenoCommon Rett syndrome - not certain
RettBASE_c.854dupA protEffect p.K286fs
RettBASE_CDKL5:c.855A>C commonName CDKL5:c.855A>C
RettBASE_c.857A>G protEffect p.K286R
RettBASE_c.859G>C protEffect p.A287P
RettBASE_c.859G>C phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.863C>T commonName CDKL5: c.863C>T
RettBASE_CDKL5:c.863C>T phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures
RettBASE_c.864dupG protEffect p.K289fs
RettBASE_c.865A>T protEffect p.K289X
RettBASE_c.865A>T phenoCommon Rett syndrome - Classical
RettBASE_c.865_866delAA protEffect p.K289fs
RettBASE_c.865_866delAA phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.867dupA commonName CDKL5: c.867dupA
RettBASE_CDKL5:c.867dupA phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy
RettBASE_c.869dupA protEffect p.S291fs
RettBASE_c.869dupA phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.872G>A commonName CDKL5: c.872G>A
RettBASE_CDKL5:c.872G>A phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures
RettBASE_c.874_875insA protEffect p.S292fs
RettBASE_c.874_875insA phenoCommon Rett syndrome - classical
RettBASE_c.880_884del5 protEffect p.R294fs
RettBASE_c.880_884del5 phenoCommon Rett syndrome - Not certain
RettBASE_c.881G>C protEffect p.R294P
RettBASE_c.881G>C phenoCommon Rett syndrome - Not certain
RettBASE_c.881_902del22 protEffect p.R294fs
RettBASE_c.881_902del22 phenoCommon Rett syndrome - not certain
RettBASE_c.883delT protEffect p.S295fs
RettBASE_c.883delT phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.884delC commonName CDKL5: c.884delC
RettBASE_CDKL5:c.884delC phenoCommon Not Rett synd. - early-onset seizures and mental retardation
RettBASE_c.889C>T protEffect p.Q297X
RettBASE_c.889C>T phenoCommon Rett syndrome - Classical
RettBASE_c.894_1095del202 protEffect p.E298fs
RettBASE_c.894_1095del202 phenoCommon Rett syndrome - not certain
RettBASE_c.898_1099del202 protEffect p.V300fs
RettBASE_c.898_1099del202 phenoCommon Rett syndrome - Classical
RettBASE_c.898G>A protEffect p.V300I
RettBASE_c.898G>A phenoCommon Rett syndrome - Classical
RettBASE_c.898_904del7 protEffect p.V300fs
RettBASE_c.898_904del7 phenoCommon Rett syndrome - Not certain
RettBASE_c.898_901del protEffect p.V300fs
RettBASE_c.898_901del phenoCommon Rett syndrome - classical
RettBASE_c.898delG protEffect p.V300fs
RettBASE_c.898delG phenoCommon Rett syndrome - not certain
RettBASE_c.900_908del protEffect p.L301_I303del
RettBASE_c.900_908del phenoCommon Rett syndrome - forme fruste
RettBASE_CDKL5:c.902_903dupGA commonName CDKL5: c.902_903dupGA
RettBASE_CDKL5:c.902_903dupGA phenoCommon Not Rett synd. - Angelman syndrome
RettBASE_c.903C>T protEffect p.L301L
RettBASE_c.903C>T phenoCommon Rett syndrome - Classical
RettBASE_c.904C>G protEffect p.P302A
RettBASE_c.904C>G phenoCommon Rett syndrome - Preserved speech
RettBASE_c.904C>T protEffect p.P302S
RettBASE_c.904C>T phenoCommon Rett syndrome - Classical
RettBASE_c.904C>A protEffect p.P302T
RettBASE_c.904C>A phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.904C>T commonName CDKL5: c.904C>T
RettBASE_CDKL5:c.904C>T phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.905C>G protEffect p.P302R
RettBASE_c.905C>G phenoCommon Rett syndrome - Not certain
RettBASE_c.905C>A protEffect p.P302H
RettBASE_c.905C>A phenoCommon Rett syndrome - Not certain
RettBASE_c.905_1138del234insCAC protEffect p.I303_V380delinsL
RettBASE_c.905_1138del234insCAC phenoCommon Rett syndrome - not certain
RettBASE_c.906C>G protEffect p.P302P
RettBASE_c.906C>G phenoCommon Not Rett synd. - mental retardation
RettBASE_c.906delC protEffect p.I303fs
RettBASE_c.906delC phenoCommon Rett syndrome - not certain
RettBASE_c.908T>G protEffect p.I303S
RettBASE_c.908T>G phenoCommon Rett syndrome - not certain
RettBASE_c.909C>G protEffect p.I303M
RettBASE_c.909C>G phenoCommon Not Rett synd.
RettBASE_c.910A>G protEffect p.K304E
RettBASE_c.911A>G protEffect p.K304R
RettBASE_c.913A>G protEffect p.K305E
RettBASE_c.913A>G phenoCommon Rett syndrome - not certain
RettBASE_c.914A>G protEffect p.K305R
RettBASE_c.914A>G phenoCommon Rett syndrome - Not certain
RettBASE_c.914_1172del259 protEffect p.K305fs
RettBASE_c.914_1172del259 phenoCommon Rett syndrome - Not certain
RettBASE_c.917G>A protEffect p.R306H
RettBASE_c.917G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.925C>T protEffect p.R309W
RettBASE_c.925C>T phenoCommon Rett syndrome - atypical
RettBASE_c.932C>T protEffect p.T311M
RettBASE_c.932C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.942C>T protEffect p.I314I
RettBASE_c.942C>T phenoCommon Not Rett synd. - mental retardation
RettBASE_c.943_1140del198ins6 protEffect p.E315_V380delins2
RettBASE_c.948C>G protEffect p.V316V
RettBASE_c.953A>C protEffect p.E318A
RettBASE_c.964C>G protEffect p.P322A
RettBASE_c.964C>G phenoCommon Rett syndrome - Classical
RettBASE_c.964C>T protEffect p.P322S
RettBASE_c.964C>T phenoCommon Not Rett synd. - Sporadic mental retardation
RettBASE_CDKL5:c.964dupA commonName CDKL5: c.964dupA
RettBASE_CDKL5:c.964dupA phenoCommon Not Rett synd. - early onset epileptic encephalopathy
RettBASE_CDKL5:c.978-2A>G commonName CDKL5: c.978-2A>G
RettBASE_CDKL5:c.978-2A>G phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.978-50_978-42del9 commonName CDKL5: c.978-50_978-42del9
RettBASE_CDKL5:c.978-50_978-42del9 phenoCommon Not Rett synd. - not certain
RettBASE_CDKL5:c.978-23T>C commonName CDKL5: c.978-23T>C
RettBASE_CDKL5:c.978-23T>C phenoCommon Not Rett synd. - neonatal seizures, severe epilepsy and mental retardation
RettBASE_c.982C>G protEffect p.L328V
RettBASE_c.982C>G phenoCommon Rett syndrome - not certain
RettBASE_c.984C>A protEffect p.L328L
RettBASE_c.985G>A protEffect p.G329S
RettBASE_c.985G>A phenoCommon Not Rett synd. - schizophrenia
RettBASE_c.989_996del8ins18 protEffect p.E330fs
RettBASE_c.989_996del8ins18 phenoCommon Rett syndrome - Classical
RettBASE_c.992A>G protEffect p.K331R
RettBASE_c.992A>G phenoCommon Rett syndrome - congenital
RettBASE_c.994_1346del353 protEffect p.S332fs
RettBASE_c.994_1346del353 phenoCommon Rett syndrome - Classical
RettBASE_c.994_998delAGCGG protEffect p.S332fs
RettBASE_c.994_998delAGCGG phenoCommon Rett syndrome - Atypical
RettBASE_c.996C>T protEffect p.S332S
RettBASE_c.996C>T phenoCommon Not Rett synd. - autism spectrum disorder
RettBASE_c.1009_1027del19 protEffect p.K337fs
RettBASE_c.1009_1027del19 phenoCommon Rett syndrome - not certain
RettBASE_c.1012_1202del191 protEffect p.T338fs
RettBASE_c.1012_1202del191 phenoCommon Rett syndrome - Not certain
RettBASE_c.1012_1193del182 protEffect p.T338fs
RettBASE_c.1012_1193del182 phenoCommon Rett syndrome - Not certain
RettBASE_c.1015T>C protEffect p.C339R
RettBASE_c.1015T>C phenoCommon Rett syndrome - not certain
RettBASE_c.1017-?_1397+?del protEffect p.?
RettBASE_c.1017-?_1397+?del phenoCommon Rett syndrome - atypical
RettBASE_c.1023_*14472del14911 protEffect p.S341fs
RettBASE_c.1023_*14472del14911 phenoCommon Rett syndrome - Classical
RettBASE_c.1030_1195del166insGT protEffect p.R344fs
RettBASE_c.1030_1195del166insGT phenoCommon Rett syndrome - Not certain
RettBASE_c.1030C>T protEffect p.R344W
RettBASE_c.1030C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1038C>G protEffect p.S346R
RettBASE_c.1038C>G phenoCommon Rett syndrome - Classical
RettBASE_c.1039_1195del157insGT protEffect p.K347fs
RettBASE_c.1039_1195del157insGT phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.1039C>T commonName CDKL5: c.1039C>T
RettBASE_CDKL5:c.1039C>T phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.1041_*29del450 protEffect p.K347_S486delins17
RettBASE_c.1043_1173del131insTG protEffect p.E348_P391delinsV
RettBASE_c.1043_1173del131insTG phenoCommon Rett syndrome - Not certain
RettBASE_c.1046_1206del161 protEffect p.S349fs
RettBASE_c.1046_1206del161 phenoCommon Rett syndrome - not certain
RettBASE_c.1047_1198del152 protEffect p.S350fs
RettBASE_c.1047_1198del152 phenoCommon Rett syndrome - not certain
RettBASE_c.1048_1095del48 protEffect p.S350_E365del
RettBASE_c.1048_1095del48 phenoCommon Rett syndrome - not certain
RettBASE_c.1052_1200del149 protEffect p.P351fs
RettBASE_c.1052_1200del149 phenoCommon Rett syndrome - Atypical
RettBASE_c.1057_1219del163 protEffect p.G353fs
RettBASE_c.1057_1219del163 phenoCommon Rett syndrome - classical
RettBASE_c.1061_1156del96 protEffect p.R352_P385del
RettBASE_c.1061_1156del96 phenoCommon Rett syndrome - Classical
RettBASE_c.1065C>T protEffect p.S355S
RettBASE_c.1065C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1069_1071delAGC protEffect p.S357del
RettBASE_c.1069_1071delAGC phenoCommon Rett syndrome - Classical
RettBASE_c.1072G>A protEffect p.A358T
RettBASE_c.1072G>A phenoCommon Rett syndrome - not certain
RettBASE_c.1075T>C protEffect p.S359P
RettBASE_c.1075T>C phenoCommon Rett syndrome - Male variant
RettBASE_c.1078_*2524del2908 protEffect p.S360fs
RettBASE_c.1078_*2524del2908 phenoCommon Rett syndrome - not certain
RettBASE_c.1079C>A protEffect p.S360X
RettBASE_c.1079C>A phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.1079delT commonName CDKL5: c.1079delT
RettBASE_CDKL5:c.1079delT phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.1081C>G protEffect p.P361A
RettBASE_CDKL5:c.1082dupC commonName CDKL5: c.1082dupC
RettBASE_CDKL5:c.1082dupC phenoCommon Not Rett synd. - early-onset seizures and mental retardation
RettBASE_c.1087A>T protEffect p.K363X
RettBASE_c.1096_1201del106 protEffect p.H366fs
RettBASE_c.1096_1201del106 phenoCommon Rett syndrome - Not certain
RettBASE_c.1097_*13del378 protEffect p.H366_S486delins22
RettBASE_c.1097_*13del378 phenoCommon Rett syndrome - Not certain
RettBASE_c.1097_1203del107 protEffect p.H366fs
RettBASE_c.1097_1203del107 phenoCommon Rett syndrome - Classical
RettBASE_c.1099_1118del20 protEffect p.H367fs
RettBASE_c.1099_1118del20 phenoCommon Rett syndrome - Not certain
RettBASE_c.1101_1201del101 protEffect p.H367fs
RettBASE_c.1101_1201del101 phenoCommon Rett syndrome - Not certain
RettBASE_c.1101_1396+?del protEffect p.H367fs
RettBASE_c.1101_1396+?del phenoCommon Rett syndrome - Classical
RettBASE_c.1105delC protEffect p.H369fs
RettBASE_c.1105_1225del121 protEffect p.H369fs
RettBASE_c.1105_1225del121 phenoCommon Rett syndrome - not certain
RettBASE_c.1115_1201del87 protEffect p.H372_S401delinsR
RettBASE_c.1115_1326del212 protEffect p.H372fs
RettBASE_c.1115_1326del212 phenoCommon Rett syndrome - atypical
RettBASE_c.1116_1201del86 protEffect p.H372fs
RettBASE_c.1116_1201del86 phenoCommon Rett syndrome - Classical
RettBASE_c.1118C>G protEffect p.S373X
RettBASE_c.1121_1191del71 protEffect p.E374fs
RettBASE_c.1121_1191del71 phenoCommon Rett syndrome - Not certain
RettBASE_c.1123_1191del69 protEffect p.S375_E397del
RettBASE_c.1123_1191del69 phenoCommon Rett syndrome - Not certain
RettBASE_c.1123_1202del80 protEffect p.S375fs
RettBASE_c.1123_1202del80 phenoCommon Rett syndrome - Not certain
RettBASE_c.1127_1179del53 protEffect p.P376fs
RettBASE_c.1127_1179del53 phenoCommon Rett syndrome - Not certain
RettBASE_c.1127C>G protEffect p.P376R
RettBASE_c.1127C>G phenoCommon Not Rett synd. - autism only
RettBASE_c.1127_1137del11 protEffect p.P376fs
RettBASE_c.1127_1137del11 phenoCommon Rett syndrome - not certain
RettBASE_c.1128_1179del52 protEffect p.K377fs
RettBASE_c.1129_1193del65 protEffect p.K377fs
RettBASE_c.1129_*568delinsCCGTGG protEffect p.K377fs
RettBASE_c.1129_*568delinsCCGTGG phenoCommon Rett syndrome - not certain
RettBASE_c.1132_1202del71 protEffect p.A378fs
RettBASE_c.1132_1202del71 phenoCommon Rett syndrome - Not certain
RettBASE_c.1133C>T protEffect p.A378V
RettBASE_c.1133C>T phenoCommon Rett syndrome - not certain
RettBASE_c.1135_1142delCCCGTGCC protEffect p.P379fs
RettBASE_c.1135_1142delCCCGTGCC phenoCommon Not Rett synd. - Sporadic mental retardation
RettBASE_c.1137C>T protEffect p.P379P
RettBASE_c.1137C>T phenoCommon Not Rett synd. - autism only
RettBASE_c.1138G>A protEffect p.V380M
RettBASE_c.1138G>A phenoCommon Not Rett synd. - mental retardation
RettBASE_c.1141C>G protEffect p.P381A
RettBASE_c.1141C>G phenoCommon Rett syndrome - classical
RettBASE_c.1142_1227del86 protEffect p.P381fs
RettBASE_c.1142_1227del86 phenoCommon Rett syndrome - male variant
RettBASE_c.1145_1194del50 protEffect p.L382fs
RettBASE_c.1145_1194del50 phenoCommon Rett syndrome - Classical
RettBASE_c.1150_1192del43 protEffect p.P384fs
RettBASE_c.1150_1192del43 phenoCommon Rett syndrome - Not certain
RettBASE_c.1151_1188del38 protEffect p.P384fs
RettBASE_c.1151_1188del38 phenoCommon Rett syndrome - Classical
RettBASE_c.1151_1191del41 protEffect p.P384fs
RettBASE_c.1151_1191del41 phenoCommon Rett syndrome - preserved speech
RettBASE_c.1151_1183del33 protEffect p.P384_S395delinsR
RettBASE_c.1151_1183del33 phenoCommon Rett syndrome - not certain
RettBASE_c.1152_1155del4 protEffect p.P385fs
RettBASE_c.1152_1155del4 phenoCommon Rett syndrome - Atypical
RettBASE_c.1153_1190del38 protEffect p.P385fs
RettBASE_c.1153_1190del38 phenoCommon Rett syndrome - Not certain
RettBASE_c.1154_1185del32 protEffect p.P385fs
RettBASE_c.1154_1185del32 phenoCommon Rett syndrome - Male variant
RettBASE_c.1154_1197del44 protEffect p.P385fs
RettBASE_c.1154_1197del44 phenoCommon Rett syndrome - Forme fruste
RettBASE_c.1155_1183del29 protEffect p.P387fs
RettBASE_c.1155_1183del29 phenoCommon Rett syndrome - not certain
RettBASE_c.1156_1200del45 protEffect p.L386_T400del
RettBASE_c.1156_1200del45 phenoCommon Rett syndrome - Not certain
RettBASE_c.1156_1172del17 protEffect p.L386X
RettBASE_c.1156_1172del17 phenoCommon Rett syndrome - Classical
RettBASE_c.1156_1197del42 protEffect p.L386_P399del
RettBASE_c.1156_1197del42 phenoCommon Rett syndrome - not certain
RettBASE_c.1156_1157dupCT protEffect p.P387fs
RettBASE_c.1156_1157dupCT phenoCommon Rett syndrome - not certain
RettBASE_c.1157_1200del44 protEffect p.L386fs
RettBASE_c.1157_1200del44 phenoCommon Rett syndrome - Not certain
RettBASE_c.1157_1187del31 protEffect p.L386fs
RettBASE_c.1157_1187del31 phenoCommon Rett syndrome - Not certain
RettBASE_c.1157_1188del32 protEffect p.L386fs
RettBASE_c.1157_1188del32 phenoCommon Rett syndrome - Preserved speech
RettBASE_c.1157_1191del35 protEffect p.L386fs
RettBASE_c.1157_1192del36 protEffect p.L386_D398delinsH
RettBASE_c.1157_1199del43 protEffect p.L386fs
RettBASE_c.1157_1199del43 phenoCommon Rett syndrome - not certain
RettBASE_c.1157_*944del1249 protEffect p.L386fs
RettBASE_c.1157_*944del1249 phenoCommon Rett syndrome - not certain
RettBASE_c.1158_1200del43 protEffect p.P387fs
RettBASE_c.1158_1200del43 phenoCommon Rett syndrome - Not certain
RettBASE_c.1158_1186del29 protEffect p.P387fs
RettBASE_c.1158_1186del29 phenoCommon Rett syndrome - Preserved speech
RettBASE_c.1158_1198del41 protEffect p.P387fs
RettBASE_c.1158_1198del41 phenoCommon Rett syndrome - not certain
RettBASE_c.1158_1186del29insCCA protEffect p.P387HfsX9
RettBASE_c.1158_1186del29insCCA phenoCommon Rett syndrome - not certain
RettBASE_c.1158_1201del44 protEffect p.P389X
RettBASE_c.1158_1201del44 phenoCommon Not Rett synd. - unaffected family member
RettBASE_c.1159_1201del43 protEffect p.P387fs
RettBASE_c.1159_1201del43 phenoCommon Rett syndrome - Not certain
RettBASE_c.1159_1210del52 protEffect p.P387fs
RettBASE_c.1159_1210del52 phenoCommon Not Rett synd. - Angelman syndrome
RettBASE_c.1159_1193del35 protEffect p.P388fs
RettBASE_c.1159_1193del35 phenoCommon Rett syndrome - not certain
RettBASE_c.1159_1458del300 protEffect p.P387X
RettBASE_c.1159_1458del300 phenoCommon Rett syndrome - not certain
RettBASE_c.1159_1160ins300 protEffect p.P387_P388ins100
RettBASE_c.1159_1160ins300 phenoCommon Rett syndrome - not certain
RettBASE_c.1159_1160delCCinsT protEffect p.P387fs
RettBASE_c.1159_1160delCCinsT phenoCommon Not Rett synd. - mental retardation
RettBASE_c.1160_1185del26 protEffect p.P387fs
RettBASE_c.1160_1185del26 phenoCommon Rett syndrome - Not certain
RettBASE_c.1160_1200del41 protEffect p.P387fs
RettBASE_c.1160_1200del41 phenoCommon Rett syndrome - Classical
RettBASE_c.1160C>T protEffect p.P387L
RettBASE_c.1160C>T phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.1160_1188del29 protEffect p.P387fs
RettBASE_c.1160_1188del29 phenoCommon Rett syndrome - Classical
RettBASE_c.1160_1180del21 protEffect p.P387_E394delinsQ
RettBASE_c.1160_1180del21 phenoCommon Rett syndrome - classical
RettBASE_c.1160_1166del7 protEffect p.P387fs
RettBASE_c.1160_1166del7 phenoCommon Rett syndrome - not certain
RettBASE_c.1161_1400del240 protEffect p.P388_P467del
RettBASE_c.1161_1400del240 phenoCommon Not Rett synd. - Unaffected family member
RettBASE_c.1161_1205del45insA protEffect p.P387fs
RettBASE_c.1161_1205del45insA phenoCommon Rett syndrome - Not certain
RettBASE_c.1162C>T protEffect p.P388S
RettBASE_c.1162C>T phenoCommon Rett syndrome - Classical
RettBASE_c.1162_1163delinsTA protEffect p.P388X
RettBASE_c.1162_1163delinsTA phenoCommon Not Rett synd. - sporadic mental retardation
RettBASE_c.1162_1191del30 protEffect p.P388_E397del
RettBASE_c.1162_1191del30 phenoCommon Rett syndrome - classical
RettBASE_c.1162_1163delCC protEffect p.P388fs
RettBASE_c.1163_1197del35 protEffect p.P388fs
RettBASE_c.1163_1197del35 phenoCommon Rett syndrome - Not certain
RettBASE_c.1163_1188del26 protEffect p.P388fs
RettBASE_c.1163_1188del26 phenoCommon Rett syndrome - Classical
RettBASE_c.1163_1216del54 protEffect p.P388_P405del
RettBASE_c.1163_1216del54 phenoCommon Rett syndrome - Not certain
RettBASE_c.1163_*39del338 protEffect p.P388fs
RettBASE_c.1163_*39del338 phenoCommon Rett syndrome - Not certain
RettBASE_c.1163_1179del17 protEffect p.P388fs
RettBASE_c.1163C>T protEffect p.P388L
RettBASE_c.1163C>T phenoCommon Rett syndrome - Forme fruste
RettBASE_c.1163_1201del39 protEffect p.P388_S401delinsR
RettBASE_c.1163_1201del39 phenoCommon Not Rett synd. - seizures, no speech
RettBASE_c.1164_1206del43 protEffect p.P388fs
RettBASE_c.1164_1206del43 phenoCommon Rett syndrome - Not certain
RettBASE_c.1164_1172del9 protEffect p.P389_P391del
RettBASE_c.1164_1172del9 phenoCommon Rett syndrome - Not certain
RettBASE_c.1164_1208del45 protEffect p.P389_P403del
RettBASE_c.1164_1208del45 phenoCommon Rett syndrome - Not certain
RettBASE_c.1164delA protEffect p.P389fs
RettBASE_c.1164delA phenoCommon Rett syndrome - not certain
RettBASE_c.1165_1233del69ins21 protEffect p.P389_P411del23ins7
RettBASE_c.1165_1233del69ins21 phenoCommon Rett syndrome - Classical
RettBASE_c.1165_1190del26 protEffect p.P389fs
RettBASE_c.1165_1190del26 phenoCommon Rett syndrome - Classical
RettBASE_c.1168_1173del6 protEffect p.P390_P391del
RettBASE_c.1168_1173del6 phenoCommon Rett syndrome - Not certain
RettBASE_p.P390fs protEffect p.P390fs
RettBASE_p.P390fs phenoCommon Rett syndrome - not certain
RettBASE_c.1169-?_1170+?del protEffect p.?
RettBASE_c.1169-?_1170+?del phenoCommon Rett syndrome - classical
RettBASE_c.1169-?_1397+?del protEffect p.?
RettBASE_c.1169-?_1397+?del phenoCommon Rett syndrome - classical
RettBASE_c.1170_1207del38 protEffect p.P391X
RettBASE_c.1176G>A protEffect p.E392E
RettBASE_c.1176G>A phenoCommon Rett syndrome - Classical
RettBASE_c.1189G>T protEffect p.E397X
RettBASE_c.1189G>T phenoCommon Rett syndrome - not certain
RettBASE_c.1190dupA protEffect p.D398fs
RettBASE_c.1190dupA phenoCommon Rett syndrome - classical
RettBASE_c.1194_1195insT protEffect p.P399fs
RettBASE_c.1194_1195insT phenoCommon Rett syndrome - Classical
RettBASE_c.1196C>T protEffect p.P399L
RettBASE_c.1196C>T phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.1196_1266del71 protEffect p.P399fs
RettBASE_c.1196_1266del71 phenoCommon Rett syndrome - not certain
RettBASE_CDKL5:c.1196A>C commonName CDKL5: c.1196A>C
RettBASE_CDKL5:c.1196A>C phenoCommon Rett syndrome - early-onset seizures
RettBASE_c.1197C>T protEffect p.P399P
RettBASE_c.1197C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1197dupC protEffect p.T400fs
RettBASE_c.1197dupC phenoCommon Rett syndrome - classical
RettBASE_c.1200dupC protEffect p.S401fs
RettBASE_c.1200dupC phenoCommon Rett syndrome - Classical
RettBASE_FOXG1:c.1200C>G commonName FOXG1: c.1200C>G
RettBASE_FOXG1:c.1200C>G phenoCommon Rett syndrome - classical
RettBASE_c.1202dupG protEffect p.S401fs
RettBASE_c.1202dupG phenoCommon Rett syndrome - not certain
RettBASE_c.1205C>T protEffect p.P402L
RettBASE_c.1205C>T phenoCommon Not Rett synd. - autism only
RettBASE_c.1206C>T protEffect p.P402P
RettBASE_c.1206C>T phenoCommon Not Rett synd. - Sporadic mental retardation
RettBASE_c.1214C>T protEffect p.P405L
RettBASE_c.1214C>T phenoCommon Not Rett synd. - mental retardation and autism combined
RettBASE_c.1214_1230del17 protEffect p.P405fs
RettBASE_c.1215C>T protEffect p.P405P
RettBASE_c.1215C>T phenoCommon Not Rett synd. - not certain
RettBASE_c.1216C>T protEffect p.Q406X
RettBASE_c.1216C>T phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.1223_1265del43 protEffect p.L408fs
RettBASE_c.1223_1265del43 phenoCommon Rett syndrome - Atypical
RettBASE_c.1229G>A protEffect p.S410N
RettBASE_c.1229G>A phenoCommon Rett syndrome - Classical
RettBASE_c.1234G>A protEffect p.V412I
RettBASE_c.1234G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.1235_1260del26 protEffect p.V412fs
RettBASE_c.1235_1260del26 phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.1238C>G commonName CDKL5: c.1238C>G
RettBASE_CDKL5:c.1238C>G phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.1239C>T protEffect p.C413C
RettBASE_c.1250A>T protEffect p.K417M
RettBASE_c.1250A>T phenoCommon Not Rett synd. - progressive encephalopathy of neonatal onset
RettBASE_c.1265_1289del25insAGCGGCCG protEffect p.G422fs
RettBASE_c.1265_1289del25insAGCGGCCG phenoCommon Rett syndrome - Not certain
RettBASE_c.1266C>T protEffect p.G422G
RettBASE_c.1266C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1271_1416del146 protEffect p.L424fs
RettBASE_c.1276_1461*113del299ins3 protEffect p.S426fs
RettBASE_c.1278C>T protEffect p.S426S
RettBASE_c.1278C>T phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.1278A>C commonName CDKL5: c.1278A>C
RettBASE_CDKL5:c.1278A>C phenoCommon Not Rett synd. - autism spectrum disorder
RettBASE_c.1282G>A protEffect p.G428S
RettBASE_c.1282G>A phenoCommon Not Rett synd. - Non-progressive encephalopathy of neonatal onset
RettBASE_c.1284C>T protEffect p.G428G
RettBASE_c.1284C>T phenoCommon Rett syndrome - classical
RettBASE_c.1288C>T protEffect p.P430S
RettBASE_c.1288C>T phenoCommon Rett syndrome - male variant
RettBASE_c.1308_1309delTC protEffect p.Q437fs
RettBASE_c.1308_1309delTC phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.1311dupC commonName CDKL5: c.1311dupC
RettBASE_CDKL5:c.1311dupC phenoCommon Rett syndrome - atypical
RettBASE_c.1315G>A protEffect p.A439T
RettBASE_c.1315G>A phenoCommon Not Rett synd. - autism only
RettBASE_c.1320dupT protEffect p.A441fs
RettBASE_c.1320dupT phenoCommon Rett syndrome - atypical
RettBASE_c.1324_1364del41 protEffect p.T442fs
RettBASE_c.1324A>G protEffect p.T442A
RettBASE_c.1330G>A protEffect p.A444T
RettBASE_c.1330G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.1330_1342del13 protEffect p.A444fs
RettBASE_CDKL5:c.1330C>T commonName CDKL5: c.1330C>T
RettBASE_c.1339G>A protEffect p.A447T
RettBASE_c.1339G>A phenoCommon Rett syndrome - not certain
RettBASE_c.1340C>T protEffect p.A447V
RettBASE_c.1340C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1357C>T protEffect p.R453X
RettBASE_c.1357C>T phenoCommon Rett syndrome - Preserved speech
RettBASE_c.1358G>A protEffect p.R453Q
RettBASE_c.1358G>A phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.1364_1365insC protEffect p.E455fs
RettBASE_c.1364_1365insC phenoCommon Rett syndrome - Congenital onset
RettBASE_c.1372C>T protEffect p.R458C
RettBASE_CDKL5:c.1382A>G commonName CDKL5: c.1382A>G
RettBASE_CDKL5:c.1382A>G phenoCommon Not Rett synd. - autism spectrum disorder
RettBASE_c.1396-?_1397+?del protEffect p.?
RettBASE_c.1396-?_1397+?del phenoCommon Rett syndrome - classical
RettBASE_CDKL5:c.1400A>C commonName CDKL5: c.1400A>C
RettBASE_CDKL5:c.1400A>C phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_c.1403_1408del6 protEffect p.R468_P469del
RettBASE_c.1403_1408del6 phenoCommon Rett syndrome - Classical
RettBASE_c.1404G>A protEffect p.R468R
RettBASE_c.1415_1416delAG protEffect p.E472fs
RettBASE_c.1415_1416delAG phenoCommon Not Rett synd. - X-linked mental retardation
RettBASE_c.1436C>T protEffect p.T479M
RettBASE_c.1436C>T phenoCommon Rett syndrome - NK
RettBASE_c.1438C>T protEffect p.P480S
RettBASE_c.1438C>T phenoCommon Not Rett synd. - mental retardation
RettBASE_c.1441G>A protEffect p.V481M
RettBASE_c.1441G>A phenoCommon Rett syndrome - Not certain
RettBASE_c.1446C>T protEffect p.T482T
RettBASE_c.1446C>T phenoCommon Rett syndrome - Not certain
RettBASE_c.1450_*12del24 protEffect p.V485_S486delins21
RettBASE_c.1450_*12del24 phenoCommon Rett syndrome - Atypical
RettBASE_c.1450_1453delAGAG protEffect p.R484fs
RettBASE_c.1450_1453delAGAG phenoCommon Rett syndrome - classical
RettBASE_c.1452_1453dup protEffect p.V485fs
RettBASE_c.1452_1453dup phenoCommon Rett syndrome - classical
RettBASE_c.1454_1457del4 protEffect p.V485fs
RettBASE_c.1454_1457del4 phenoCommon Rett syndrome - Not certain
RettBASE_c.1455_1456dupTA protEffect p.S486fs
RettBASE_c.1455_1456dupTA phenoCommon Rett syndrome - classical
RettBASE_c.1461A>C protEffect p.X487CextX27
RettBASE_c.1461A>C phenoCommon Rett syndrome - Classical
RettBASE_c.1461A>G protEffect p.X487WextX27
RettBASE_CDKL5:c.1523T>C commonName CDKL5: c.1523T>C
RettBASE_CDKL5:c.1523T>C phenoCommon Not Rett synd. - autism spectrum disorder
RettBASE_CDKL5:c.1648C>T commonName CDKL5: c.1648C>T
RettBASE_CDKL5:c.1648C>T phenoCommon Rett syndrome - early-onset seizure
RettBASE_CDKL5:c.1675C>T commonName CDKL5:c.1675C>T
RettBASE_CDKL5:c.1708G>T commonName CDKL5: c.1708G>T
RettBASE_CDKL5:c.1708G>T phenoCommon Rett syndrome - early seizure
RettBASE_CDKL5:c.1767C>T commonName CDKL5: c.1767C>T
RettBASE_CDKL5:c.1767C>T phenoCommon Not known - infantile intractable epilepsy
RettBASE_CDKL5:c.1892_1893dupTA commonName CDKL5: c.1892_1893dupTA
RettBASE_CDKL5:c.1892_1893dupTA phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.1892T>C commonName CDKL5: c.1892T>C
RettBASE_CDKL5:c.1892T>C phenoCommon Not Rett synd. - early-onset encephalopathy
RettBASE_CDKL5:c.1954C>T commonName CDKL5:c.1954C>T
RettBASE_CDKL5:c.2016delC commonName CDKL5: c.2016delC
RettBASE_CDKL5:c.2016delC phenoCommon Not Rett synd. - ISSX
RettBASE_CDKL5:c.2016dupC commonName CDKL5: c.2016dupC
RettBASE_CDKL5:c.2016dupC phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.2045_2046delAGins18 commonName CDKL5: c.2045_2046delAGins18
RettBASE_CDKL5:c.2045_2046delAGins18 phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.2046+79G>A commonName CDKL5: c.2046+79G>A
RettBASE_CDKL5:c.2047-1G>A commonName CDKL5: c.2047-1G>A
RettBASE_CDKL5:c.2047-1G>A phenoCommon Rett syndrome - Atypical
RettBASE_CDKL5:c.2066delC commonName CDKL5: c.2066delC
RettBASE_CDKL5:c.2066delC phenoCommon Not Rett synd. - early onset epileptic encephalopathy
RettBASE_CDKL5:c.2152+48C>T commonName CDKL5: c.2152+48C>T
RettBASE_CDKL5:c.2152G>A commonName CDKL5: c.2152G>A
RettBASE_CDKL5:c.2152G>A phenoCommon Not Rett synd. - ISSX
RettBASE_CDKL5:c.2325_2326delGA commonName CDKL5: c.2325_2326delGA
RettBASE_CDKL5:c.2325_2326delGA phenoCommon Not Rett synd. - ISSX
RettBASE_CDKL5:c.2343delG commonName CDKL5: c.2343delG
RettBASE_CDKL5:c.2343delG phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.2363_2367delAGAAA commonName CDKL5: c.2363_2367delAGAAA
RettBASE_CDKL5:c.2363_2367delAGAAA phenoCommon Not Rett synd. - X-linked West syndrome/autism
RettBASE_CDKL5:c.2372A>C commonName CDKL5: c.2372A>C
RettBASE_CDKL5:c.2372A>C phenoCommon Rett syndrome - Not certain
RettBASE_CDKL5:c.2376+1G>C commonName CDKL5: c.2376+1G>C
RettBASE_CDKL5:c.2376+1G>C phenoCommon Not Rett synd. - ISSX
RettBASE_CDKL5:c.2376+118T>A commonName CDKL5: c.2376+118T>A
RettBASE_CDKL5:c.2376+1G>A commonName CDKL5: c.2376+1G>A
RettBASE_CDKL5:c.2376+1G>A phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.2376+5G>A commonName CDKL5: c.2376+5G>A
RettBASE_CDKL5:c.2376+5G>A phenoCommon Rett syndrome - not specified
RettBASE_CDKL5:c.2377-31T>C commonName CDKL5: c.2377-31T>C
RettBASE_CDKL5:c.2377-31T>C phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.2378T>C commonName CDKL5: c.2378T>C
RettBASE_CDKL5:c.2378T>C phenoCommon Not Rett synd. - not certain
RettBASE_CDKL5:c.2413C>T commonName CDKL5:c.2413C>T
RettBASE_CDKL5:c.2500C>T commonName CDKL5: c.2500C>T
RettBASE_CDKL5:c.2500C>T phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.2504delC commonName CDKL5: c.2504delC
RettBASE_CDKL5:c.2504delC phenoCommon Not Rett synd. - epileptic encephalopathy
RettBASE_CDKL5:c.2529delA commonName CDKL5: c.2529delA
RettBASE_CDKL5:c.2529delA phenoCommon Not Rett synd. - early-onset seizures and mental retardation
RettBASE_CDKL5:c.2572delC commonName CDKL5:c.2572delC
RettBASE_CDKL5:c.2593C>T commonName CDKL5:c.2593C>T
RettBASE_CDKL5:c.2635_2636delCT commonName CDKL5: c.2635_2636delCT
RettBASE_CDKL5:c.2635_2636delCT phenoCommon Rett syndrome - early seizure
RettBASE_CDKL5:c.2767C>T commonName CDKL5: c.2767C>T
RettBASE_CDKL5:c.2854C>T commonName CDKL5: c.2854C>T
RettBASE_CDKL5:c.2854C>T phenoCommon Not known - infantile intractable epilepsy
RettBASE_CDKL5:c.2908C>T commonName CDKL5: c.2908C>T
RettBASE_CDKL5:c.2908C>T phenoCommon Rett syndrome - atypical
RettBASE_CDKL5:c.2984T>G commonName CDKL5: c.2984T>G
RettBASE_CDKL5:c.2984T>G phenoCommon Not Rett synd. - schizophrenia
RettBASE_CDKL5:c.2995G>A commonName CDKL5: c.2995G>A
RettBASE_CDKL5:c.2995G>A phenoCommon Not known - infantile intractable epilepsy
RettBASE_CDKL5:c.3003C>T commonName CDKL5: c.3003C>T
RettBASE_CDKL5:c.3003C>T phenoCommon Not Rett synd. - autism spectrum disorder or schizophrenia
RettBASE_CDKL5:c.3012G>T commonName CDKL5: c.3012G>T
RettBASE_CDKL5:c.3012G>T phenoCommon Not Rett synd. - autism spectrum disorder
RettBASE_CDKL5:c.3084G>A commonName CDKL5: c.3084G>A
RettBASE_CDKL5:c.3084G>A phenoCommon Not Rett synd. - autism spectrum disorder or schizophrenia
HbVar.1 protEffect HBA2 or HBA1 2(NA1) Val>Gly
HbVar.1 commonName Hb Antananarivo
HbVar.1 ethnic Madagascar
HbVar.1 phenoCommon Hemoglobin variant
HbVar.2 protEffect HBA2 or HBA1 3(NA2) Leu>Arg
HbVar.2 commonName Hb Chongqing
HbVar.2 ethnic Chinese
HbVar.2 phenoCommon Hemoglobin variant
HbVar.3 protEffect HBA2 or HBA1 6(A3) Ala>Asp
HbVar.3 commonName Hb J-Toronto
HbVar.3 ethnic English
HbVar.3 phenoCommon Hemoglobin variant
HbVar.4 protEffect HBA2 or HBA1 6(A3) Ala>Pro
HbVar.4 commonName Hb Karachi
HbVar.4 ethnic Pakistani
HbVar.4 phenoCommon Hemoglobin variant
HbVar.5 protEffect HBA2 or HBA1 7(A4) Asp>Ala
HbVar.5 commonName Hb Sawara
HbVar.5 ethnic Japanese
HbVar.5 phenoCommon Hemoglobin variant
HbVar.6 protEffect HBA2 or HBA1 7(A4) Asp>Asn
HbVar.6 commonName Hb Dunn
HbVar.6 ethnic Black
HbVar.6 ethnic Indian
HbVar.6 ethnic Moroccan
HbVar.6 phenoCommon Hemoglobin variant
HbVar.7 protEffect HBA2 or HBA1 7(A4) Asp>Val
HbVar.7 commonName Hb Ferndown
HbVar.7 ethnic English
HbVar.7 phenoCommon Hemoglobin variant
HbVar.8 protEffect HBA2 or HBA1 7(A4) Asp>Tyr
HbVar.8 commonName Hb Woodville
HbVar.8 ethnic Vietnamese
HbVar.8 phenoCommon Hemoglobin variant
HbVar.9 protEffect HBA2 or HBA1 7(A4) Asp>Gly
HbVar.9 commonName Hb Swan River
HbVar.9 ethnic Yugoslavian
HbVar.9 ethnic Caucasian
HbVar.9 ethnic Japanese
HbVar.9 phenoCommon Hemoglobin variant
HbVar.10 protEffect HBA2 or HBA1 8(A5) Lys>Asn
HbVar.10 commonName Hb Tatras
HbVar.10 ethnic Czech
HbVar.10 phenoCommon Hemoglobin variant
HbVar.11 protEffect HBA2 or HBA1 8(A5) Lys>Glu
HbVar.11 commonName Hb Kurosaki
HbVar.11 ethnic Japanese
HbVar.11 phenoCommon Hemoglobin variant
HbVar.12 protEffect HBA2 or HBA1 12(A9) Lys>Glu
HbVar.12 commonName Hb Anantharaj
HbVar.12 phenoCommon Hemoglobin variant
HbVar.13 protEffect HBA2 or HBA1 12(A9) Lys>Gln
HbVar.13 commonName Hb J-Wenchang-Wuming
HbVar.13 ethnic Chinese
HbVar.13 phenoCommon Hemoglobin variant
HbVar.14 protEffect HBA2 or HBA1 12(A9) Lys>Asn
HbVar.14 commonName Hb Albany-Suma
HbVar.14 ethnic Black
HbVar.14 phenoCommon Hemoglobin variant
HbVar.15 protEffect HBA2 or HBA1 13(A10) Ala>Asp
HbVar.15 commonName Hb J-Paris-I
HbVar.15 alias Hb J-Aljezur
HbVar.15 ethnic Spanish
HbVar.15 ethnic Portuguese
HbVar.15 ethnic Iranian
HbVar.15 ethnic Yugoslavian
HbVar.15 ethnic Punjabi
HbVar.15 phenoCommon Hemoglobin variant
HbVar.16 protEffect HBA2 or HBA1 15(A12) Trp>Arg
HbVar.16 commonName Hb Evanston
HbVar.16 alias Codon 14 (T->A); TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] alpha-Thal-1
HbVar.16 ethnic Black
HbVar.16 phenoCommon Thalassemia
HbVar.17 protEffect HBA1 16(A13) Gly>Asp
HbVar.17 commonName Hb I-Interlaken
HbVar.17 alias Hb J-Oxford
HbVar.17 alias Hb N-Cosenza
HbVar.17 ethnic English
HbVar.17 ethnic Italian
HbVar.17 phenoCommon Hemoglobin variant
HbVar.18 protEffect HBA2 or HBA1 16(A13) Gly>Arg
HbVar.18 commonName Hb Ottawa
HbVar.18 alias Hb Siam
HbVar.18 ethnic Canadian
HbVar.18 ethnic Chinese
HbVar.18 ethnic Polish
HbVar.18 phenoCommon Hemoglobin variant
HbVar.19 protEffect HBA2 17(A14) Lys>Glu
HbVar.19 commonName Hb I
HbVar.19 alias Hb I-Philadelphia
HbVar.19 alias Hb I-Texas
HbVar.19 alias Hb I-Burlington
HbVar.19 alias Hb I-Skamania
HbVar.19 ethnic Australian
HbVar.19 ethnic Black
HbVar.19 ethnic Caucasian
HbVar.19 ethnic Indian
HbVar.19 ethnic Japanese
HbVar.19 phenoCommon Hemoglobin variant
HbVar.20 protEffect HBA2 or HBA1 17(A14) Lys>Asn
HbVar.20 commonName Hb Beijing
HbVar.20 ethnic Chinese
HbVar.20 phenoCommon Hemoglobin variant
HbVar.21 protEffect HBA2 or HBA1 17(A14) Lys>Met
HbVar.21 commonName Hb Harbin
HbVar.21 ethnic Chinese
HbVar.21 phenoCommon Hemoglobin variant
HbVar.22 protEffect HBA2 or HBA1 19(A16) Gly>Arg
HbVar.22 commonName Hb Handsworth
HbVar.22 ethnic Indian
HbVar.22 ethnic Chinese
HbVar.22 ethnic Saudi Arabian
HbVar.22 phenoCommon Hemoglobin variant
HbVar.23 protEffect HBA2 or HBA1 19(A16) Gly>Asp
HbVar.23 commonName Hb Al-Ain Abu Dhabi
HbVar.23 ethnic United Arab Emirates
HbVar.23 phenoCommon Hemoglobin variant
HbVar.24 protEffect HBA2 or HBA1 20(AB1) Ala>Asp
HbVar.24 commonName Hb J-Kurosh
HbVar.24 ethnic Iranian
HbVar.24 phenoCommon Hemoglobin variant
HbVar.25 protEffect HBA2 or HBA1 20(AB1) Ala>Glu
HbVar.25 commonName Hb J-Tashikuergan
HbVar.25 ethnic Tajike
HbVar.25 ethnic Afghan
HbVar.25 phenoCommon Hemoglobin variant
HbVar.26 protEffect HBA2 or HBA1 21(B1) His>Tyr
HbVar.26 commonName Hb Necker Enfants-Malades
HbVar.26 ethnic French West Indies
HbVar.26 phenoCommon Hemoglobin variant
HbVar.27 protEffect HBA2 21(B1) His>Gln
HbVar.27 commonName Hb Le Lamentin
HbVar.27 ethnic English
HbVar.27 ethnic French West Indies
HbVar.27 ethnic Japanese
HbVar.27 ethnic Spanish
HbVar.27 phenoCommon Hemoglobin variant
HbVar.28 protEffect HBA2 or HBA1 21(B1) His>Arg
HbVar.28 commonName Hb Hobart
HbVar.28 ethnic English
HbVar.28 phenoCommon Hemoglobin variant
HbVar.29 protEffect HBA2 or HBA1 22(B2) Ala>Asp
HbVar.29 commonName Hb J-Nyanza
HbVar.29 ethnic Western Kenyan
HbVar.29 phenoCommon Hemoglobin variant
HbVar.30 protEffect HBA2 or HBA1 22(B2) Ala>Pro
HbVar.30 commonName Hb Fontainebleau
HbVar.30 ethnic Italian
HbVar.30 phenoCommon Hemoglobin variant
HbVar.31 protEffect HBA2 or HBA1 23(B3) Gly>Asp
HbVar.31 commonName Hb J-Medellin
HbVar.31 ethnic Colombian
HbVar.31 phenoCommon Hemoglobin variant
HbVar.32 protEffect HBA2 or HBA1 24(B4) Glu>Gln
HbVar.32 commonName Hb Memphis
HbVar.32 ethnic Black
HbVar.32 phenoCommon Hemoglobin variant
HbVar.33 protEffect HBA2 or HBA1 24(B4) Glu>Lys
HbVar.33 commonName Hb Chad
HbVar.33 alias Hb E-Keelung
HbVar.33 ethnic Black
HbVar.33 ethnic Chinese
HbVar.33 ethnic Japanese
HbVar.33 phenoCommon Hemoglobin variant
HbVar.34 protEffect HBA2 or HBA1 24(B4) Glu>Val
HbVar.34 commonName Hb G-Audhali
HbVar.34 ethnic Black
HbVar.34 phenoCommon Hemoglobin variant
HbVar.35 protEffect HBA2 or HBA1 24(B4) Glu>Gly
HbVar.35 commonName Hb Reims
HbVar.35 ethnic French
HbVar.35 phenoCommon Hemoglobin variant
HbVar.36 protEffect HBA2 or HBA1 24(B4) Glu>Asp
HbVar.36 commonName Hb Lisbon
HbVar.36 ethnic Portuguese
HbVar.36 phenoCommon Hemoglobin variant
HbVar.37 protEffect HBA2 or HBA1 25(B5) Tyr>His
HbVar.37 commonName Hb Luxembourg
HbVar.37 ethnic Dutch
HbVar.37 phenoCommon Hemoglobin variant
HbVar.38 protEffect HBA1 25(B5) Tyr>Cys
HbVar.38 commonName Hb Ramona
HbVar.38 ethnic Spanish
HbVar.38 phenoCommon Hemoglobin variant
HbVar.39 protEffect HBA2 or HBA1 27(B7) Ala>Glu
HbVar.39 commonName Hb Shenyang
HbVar.39 ethnic Chinese
HbVar.39 phenoCommon Hemoglobin variant
HbVar.40 protEffect HBA2 27(B7) Ala>Thr
HbVar.40 commonName Hb Caserta
HbVar.40 ethnic Italian
HbVar.40 phenoCommon Hemoglobin variant
HbVar.41 protEffect HBA2 or HBA1 28(B8) Glu>Gly
HbVar.41 commonName Hb Fort Worth
HbVar.41 ethnic Black
HbVar.41 phenoCommon Hemoglobin variant
HbVar.42 protEffect HBA2 or HBA1 28(B8) Glu>Val
HbVar.42 commonName Hb Spanish Town
HbVar.42 ethnic Jamaican
HbVar.42 phenoCommon Hemoglobin variant
HbVar.43 protEffect HBA2 or HBA1 28(B8) Glu>Lys
HbVar.43 commonName Hb Shuangfeng
HbVar.43 ethnic Chinese
HbVar.43 phenoCommon Hemoglobin variant
HbVar.44 protEffect HBA2 28(B8) Glu>Asp
HbVar.44 commonName Hb Hekinan
HbVar.44 ethnic Black
HbVar.44 ethnic Chinese
HbVar.44 ethnic Japanese
HbVar.44 ethnic Thai
HbVar.44 phenoCommon Hemoglobin variant
HbVar.45 protEffect HBA2 30(B10) Leu>Pro
HbVar.45 commonName Hb Agrinio
HbVar.45 alias Codon 29 CTG->CCG of the alpha2 gene alpha-Thal-2
HbVar.45 ethnic Greek Cypriot
HbVar.45 phenoCommon Thalassemia
HbVar.46 protEffect HBA2 or HBA1 31(B11) Glu>Lys
HbVar.46 commonName Hb O-Padova
HbVar.46 ethnic Italian
HbVar.46 ethnic Turkish
HbVar.46 phenoCommon Hemoglobin variant
HbVar.47 protEffect HBA2 or HBA1 31(B11) Glu>Gln
HbVar.47 commonName Hb G-Honolulu
HbVar.47 alias Hb G-Singapore
HbVar.47 alias Hb G-Chinese
HbVar.47 alias Hb G-Hong Kong
HbVar.47 ethnic Chinese
HbVar.47 phenoCommon Hemoglobin variant
HbVar.48 protEffect HBA2 or HBA1 32(B12) Arg>Ser
HbVar.48 commonName Hb Prato
HbVar.48 ethnic Italian
HbVar.48 ethnic Taiwanese
HbVar.48 phenoCommon Hemoglobin variant
HbVar.49 protEffect HBA2 or HBA1 35(B15) Leu>Arg
HbVar.49 commonName Hb Queens
HbVar.49 alias Hb Ogi
HbVar.49 ethnic Chinese
HbVar.49 ethnic Japanese
HbVar.49 ethnic Korean
HbVar.49 ethnic Thai
HbVar.49 ethnic Vietnamese
HbVar.49 phenoCommon Hemoglobin variant
HbVar.50 protEffect HBA2 36(B16) Ser>Tyr
HbVar.50 commonName Hb Shinagawa
HbVar.50 ethnic Japanese
HbVar.50 phenoCommon Hemoglobin variant
HbVar.51 protEffect HBA2 or HBA1 38(C2) Pro>Arg
HbVar.51 commonName Hb Boumerdes
HbVar.51 ethnic African-American
HbVar.51 ethnic Algerian
HbVar.51 phenoCommon Hemoglobin variant
HbVar.52 protEffect HBA2 or HBA1 41(C5) Lys>Glu
HbVar.52 commonName Hb Kariya
HbVar.52 ethnic Japanese
HbVar.52 ethnic Caucasian
HbVar.52 phenoCommon Hemoglobin variant
HbVar.53 protEffect HBA2 41(C5) Lys>Met
HbVar.53 commonName Hb Kanagawa
HbVar.53 ethnic Japanese
HbVar.53 phenoCommon Hemoglobin variant
HbVar.54 protEffect HBA2 or HBA1 42(C6) Thr>Ser
HbVar.54 commonName Hb Miyano
HbVar.54 ethnic Japanese
HbVar.54 phenoCommon Hemoglobin variant
HbVar.55 protEffect HBA2 or HBA1 44(CE1) Phe>Val
HbVar.55 commonName Hb Torino
HbVar.55 ethnic Italian
HbVar.55 ethnic Lebanese
HbVar.55 phenoCommon Hemoglobin variant
HbVar.56 protEffect HBA2 44(CE1) Phe>Leu
HbVar.56 commonName Hb Hirosaki
HbVar.56 ethnic Japanese
HbVar.56 phenoCommon Hemoglobin variant
HbVar.57 protEffect HBA2 or HBA1 45(CE2) Pro>Leu
HbVar.57 commonName Hb Milledgeville
HbVar.57 ethnic Black
HbVar.57 phenoCommon Hemoglobin variant
HbVar.58 protEffect HBA2 or HBA1 45(CE2) Pro>Arg
HbVar.58 commonName Hb Kawachi
HbVar.58 ethnic Japanese
HbVar.58 phenoCommon Hemoglobin variant
HbVar.59 protEffect HBA2 or HBA1 46(CE3) His>Arg
HbVar.59 commonName Hb Fort de France
HbVar.59 ethnic French West Indies
HbVar.59 phenoCommon Hemoglobin variant
HbVar.60 protEffect HBA2 or HBA1 46(CE3) His>Gln
HbVar.60 commonName Hb Bari
HbVar.60 ethnic Italian
HbVar.60 phenoCommon Hemoglobin variant
HbVar.61 protEffect HBA2 or HBA1 46(CE3) His>Asp
HbVar.61 commonName Hb Poitiers
HbVar.61 ethnic French
HbVar.61 phenoCommon Hemoglobin variant
HbVar.62 protEffect HBA2 46(CE3) His>Pro
HbVar.62 commonName Hb Oita
HbVar.62 ethnic Japanese
HbVar.62 phenoCommon Hemoglobin variant
HbVar.63 protEffect HBA2 or HBA1 46(CE3) His>Tyr
HbVar.63 commonName Hb Matsudo
HbVar.63 ethnic Asian
HbVar.63 phenoCommon Hemoglobin variant
HbVar.64 protEffect HBA2 or HBA1 48(CE5) Asp>Gly
HbVar.64 commonName Hb Beilinson
HbVar.64 alias Hb Umi
HbVar.64 alias Hb Yukuhashi-II
HbVar.64 alias Hb L-Gaslini
HbVar.64 alias Hb Tagawa-II
HbVar.64 alias Hb Kokura
HbVar.64 alias Hb Mugino
HbVar.64 ethnic Ashkenazi Jews
HbVar.64 ethnic Japanese
HbVar.64 ethnic United Arab Emirates
HbVar.64 phenoCommon Hemoglobin variant
HbVar.65 protEffect HBA2 48(CE5) Asp>His
HbVar.65 commonName Hb Hasharon
HbVar.65 alias Hb Sinai
HbVar.65 alias Hb Sealy
HbVar.65 alias Hb L-Ferrara
HbVar.65 alias Hb Michigan-I
HbVar.65 alias Hb Michigan-II
HbVar.65 ethnic Ashkenazi Jews
HbVar.65 ethnic Italian
HbVar.65 phenoCommon Hemoglobin variant
HbVar.66 protEffect HBA2 or HBA1 48(CE5) Asp>Asn
HbVar.66 commonName Hb Arya
HbVar.66 ethnic Iranian
HbVar.66 phenoCommon Hemoglobin variant
HbVar.67 protEffect HBA2 or HBA1 48(CE5) Asp>Ala
HbVar.67 commonName Hb Cordele
HbVar.67 ethnic Black
HbVar.67 phenoCommon Hemoglobin variant
HbVar.68 protEffect HBA2 48(CE5) Asp>Tyr
HbVar.68 commonName Hb Kurdistan
HbVar.68 ethnic Kurdish
HbVar.68 phenoCommon Hemoglobin variant
HbVar.69 protEffect HBA2 49(CE6) Leu>Arg
HbVar.69 commonName Hb Montgomery
HbVar.69 ethnic Black
HbVar.69 ethnic Chinese
HbVar.69 phenoCommon Hemoglobin variant
HbVar.70 protEffect HBA2 50(CE7) Ser>Arg
HbVar.70 commonName Hb Savaria
HbVar.70 ethnic Hungarian
HbVar.70 ethnic Yugoslavian
HbVar.70 ethnic Kenyan
HbVar.70 ethnic American
HbVar.70 phenoCommon Hemoglobin variant
HbVar.71 protEffect HBA2 51(CE8) His>Asp
HbVar.71 commonName Hb J-Sardegna
HbVar.71 ethnic Italian
HbVar.71 ethnic Sardinian
HbVar.71 phenoCommon Hemoglobin variant
HbVar.72 protEffect HBA2 or HBA1 51(CE8) His>Arg
HbVar.72 commonName Hb Aichi
HbVar.72 ethnic Japanese
HbVar.72 phenoCommon Hemoglobin variant
HbVar.73 protEffect HBA2 or HBA1 51(CE8) His>Gln OR HBA1 or HBA2 51(CE8) His>Gln
HbVar.73 commonName Hb Frankfurt
HbVar.73 ethnic German
HbVar.73 ethnic Italian
HbVar.73 phenoCommon Hemoglobin variant
HbVar.74 protEffect HBA2 or HBA1 52(CE9) Gly>Asp
HbVar.74 commonName Hb J-Abidjan
HbVar.74 ethnic Yacouba
HbVar.74 ethnic Japanese
HbVar.74 phenoCommon Hemoglobin variant
HbVar.75 protEffect HBA2 or HBA1 52(CE9) Gly>Arg
HbVar.75 commonName Hb Russ
HbVar.75 ethnic Caucasian
HbVar.75 ethnic Chinese
HbVar.75 ethnic American
HbVar.75 phenoCommon Hemoglobin variant
HbVar.76 protEffect HBA2 or HBA1 54(E2) Ala>Asp
HbVar.76 commonName Hb J-Rovigo
HbVar.76 ethnic Italian
HbVar.76 ethnic Brazilian
HbVar.76 phenoCommon Hemoglobin variant
HbVar.77 protEffect HBA2 or HBA1 55(E3) Gln>Arg
HbVar.77 commonName Hb Shimonoseki
HbVar.77 alias Hb Hikoshima
HbVar.77 ethnic Japanese
HbVar.77 phenoCommon Hemoglobin variant
HbVar.78 protEffect HBA2 or HBA1 55(E3) Gln>Glu
HbVar.78 commonName Hb Mexico
HbVar.78 alias Hb J-Paris-II
HbVar.78 alias Hb Uppsala
HbVar.78 ethnic Mexican
HbVar.78 ethnic Swedish
HbVar.78 ethnic Algerian
HbVar.78 ethnic Indian
HbVar.78 ethnic Black
HbVar.78 phenoCommon Hemoglobin variant
HbVar.79 protEffect HBA2 or HBA1 57(E5) Lys>Thr
HbVar.79 commonName Hb Thailand
HbVar.79 ethnic Thai
HbVar.79 phenoCommon Hemoglobin variant
HbVar.80 protEffect HBA2 or HBA1 57(E5) Lys>Glu
HbVar.80 commonName Hb Shaare Zedek
HbVar.80 ethnic Jewish
HbVar.80 phenoCommon Hemoglobin variant
HbVar.81 protEffect HBA2 or HBA1 57(E5) Lys>Asn
HbVar.81 commonName Hb Belliard
HbVar.81 ethnic Spanish
HbVar.81 phenoCommon Hemoglobin variant
HbVar.82 protEffect HBA2 or HBA1 57(E5) Lys>Arg
HbVar.82 commonName Hb Port Huron
HbVar.82 ethnic African-American
HbVar.82 phenoCommon Hemoglobin variant
HbVar.83 protEffect HBA2 or HBA1 58(E6) Gly>Arg
HbVar.83 commonName Hb L-Persian Gulf
HbVar.83 ethnic Persian Gulf
HbVar.83 phenoCommon Hemoglobin variant
HbVar.84 protEffect HBA2 or HBA1 58(E6) Gly>Asp
HbVar.84 commonName Hb J-Norfolk
HbVar.84 alias Hb Kagoshima
HbVar.84 alias Hb Nishik-I
HbVar.84 alias Hb Nishik-II
HbVar.84 alias Hb Nishik-III
HbVar.84 ethnic English
HbVar.84 ethnic Italian
HbVar.84 ethnic Japanese
HbVar.84 ethnic Nepali
HbVar.84 phenoCommon Hemoglobin variant
HbVar.85 protEffect HBA2 or HBA1 59(E7) His>Tyr
HbVar.85 commonName Hb M-Boston
HbVar.85 alias Hb M-Osaka
HbVar.85 alias Hb M-Gothenburg
HbVar.85 alias Hb M-Kiskunhalas
HbVar.85 alias Hb M-Norin
HbVar.85 ethnic German
HbVar.85 ethnic Swedish
HbVar.85 ethnic Dutch
HbVar.85 ethnic Hungarian
HbVar.85 ethnic Japanese
HbVar.85 phenoCommon Hemoglobin variant
HbVar.86 protEffect HBA2 or HBA1 60(E8) Gly>Val
HbVar.86 commonName Hb Tottori
HbVar.86 ethnic Japanese
HbVar.86 phenoCommon Hemoglobin variant
HbVar.87 protEffect HBA2 or HBA1 60(E8) Gly>Asp
HbVar.87 commonName Hb Adana
HbVar.87 alias Codon 59 (G->A) of the alpha1 gene; GGC->GAC alpha-Thal-2
HbVar.87 ethnic Turkish
HbVar.87 phenoCommon alpha-2 thalassemia
HbVar.88 protEffect HBA2 or HBA1 61(E9) Lys>Asn
HbVar.88 commonName Hb Zambia
HbVar.88 ethnic Zambian
HbVar.88 phenoCommon Hemoglobin variant
HbVar.89 protEffect HBA2 or HBA1 61(E9) Lys>Glu
HbVar.89 commonName Hb Dagestan
HbVar.89 ethnic Dagestan
HbVar.89 phenoCommon Hemoglobin variant
HbVar.90 protEffect HBA2 or HBA1 62(E10) Lys>Asn
HbVar.90 commonName Hb J-Buda
HbVar.90 ethnic Hungarian
HbVar.90 phenoCommon Hemoglobin variant
HbVar.91 protEffect HBA2 62(E10) Lys>Thr
HbVar.91 commonName Hb J-Anatolia
HbVar.91 ethnic Turkish
HbVar.91 phenoCommon Hemoglobin variant
HbVar.92 protEffect HBA2 or HBA1 62(E10) Lys>Glu
HbVar.92 commonName Hb Miyagi
HbVar.92 ethnic Japanese
HbVar.92 phenoCommon Hemoglobin variant
HbVar.93 protEffect HBA2 63(E11) Val>Met
HbVar.93 commonName Hb Evans
HbVar.93 ethnic Caucasian
HbVar.93 phenoCommon Hemoglobin variant
HbVar.94 protEffect HBA2 or HBA1 64(E12) Ala>Asp
HbVar.94 commonName Hb Pontoise
HbVar.94 alias Hb J-Pontoise
HbVar.94 ethnic Spanish
HbVar.94 phenoCommon Hemoglobin variant
HbVar.95 protEffect HBA2 65(E13) Asp>Asn
HbVar.95 commonName Hb G-Waimanalo
HbVar.95 alias Hb Aida
HbVar.95 ethnic Philippine
HbVar.95 ethnic Indian
HbVar.95 ethnic Rumanian
HbVar.95 phenoCommon Hemoglobin variant
HbVar.96 protEffect HBA2 or HBA1 65(E13) Asp>Tyr
HbVar.96 commonName Hb Persepolis
HbVar.96 ethnic Indian Sikh
HbVar.96 phenoCommon Hemoglobin variant
HbVar.97 protEffect HBA1 65(E13) Asp>His
HbVar.97 commonName Hb Q-India
HbVar.97 ethnic Hindu
HbVar.97 ethnic French
HbVar.97 ethnic Iranian
HbVar.97 phenoCommon Hemoglobin variant
HbVar.98 protEffect HBA2 or HBA1 65(E13) Asp>Gly
HbVar.98 commonName Hb Guangzhou-Hangzhou
HbVar.98 ethnic Chinese
HbVar.98 phenoCommon Hemoglobin variant
HbVar.99 protEffect HBA2 or HBA1 66(E14) Ala>Val
HbVar.99 commonName Hb Bois Guillaume
HbVar.99 ethnic French
HbVar.99 phenoCommon Hemoglobin variant
HbVar.100 protEffect HBA2 or HBA1 69(E17) Asn>Lys
HbVar.100 commonName Hb G-Philadelphia
HbVar.100 alias Hb G-Knoxville
HbVar.100 alias Hb Stanleyville-I
HbVar.100 alias Hb D-Washington
HbVar.100 alias Hb D-St. Louis
HbVar.100 alias Hb G-Bristol
HbVar.100 alias Hb G-Azakouli
HbVar.100 alias Hb D-Baltimore
HbVar.100 ethnic Black
HbVar.100 ethnic Italian
HbVar.100 ethnic Chinese
HbVar.100 phenoCommon Hemoglobin variant
HbVar.101 protEffect HBA2 or HBA1 69(E17) Asn>Asp
HbVar.101 commonName Hb Ube-2
HbVar.101 ethnic Japanese
HbVar.101 ethnic Taiwanese
HbVar.101 phenoCommon Hemoglobin variant
HbVar.102 protEffect HBA2 or HBA1 72(E20) Ala>Glu
HbVar.102 commonName Hb J-Habana
HbVar.102 ethnic Cuban
HbVar.102 ethnic Japanese
HbVar.102 phenoCommon Hemoglobin variant
HbVar.103 protEffect HBA2 or HBA1 72(E20) Ala>Val
HbVar.103 commonName Hb Ozieri
HbVar.103 ethnic Sardinian
HbVar.103 phenoCommon Hemoglobin variant
HbVar.104 protEffect HBA2 or HBA1 73(EF1) His>Arg
HbVar.104 commonName Hb Daneshgah-Tehran
HbVar.104 ethnic Iranian
HbVar.104 ethnic Argentine
HbVar.104 phenoCommon Hemoglobin variant
HbVar.105 protEffect HBA2 73(EF1) His>Gln
HbVar.105 commonName Hb Gouda
HbVar.105 ethnic Dutch
HbVar.105 phenoCommon Hemoglobin variant
HbVar.106 protEffect HBA2 or HBA1 73(EF1) His>Tyr
HbVar.106 commonName Hb Fuchu-I
HbVar.106 alias Hb Tanashi
HbVar.106 ethnic Japanese
HbVar.106 phenoCommon Hemoglobin variant
HbVar.107 protEffect HBA1 75(EF3) Asp>His
HbVar.107 commonName Hb Q-Thailand
HbVar.107 alias Hb G-Taichung
HbVar.107 alias Hb Mahidol
HbVar.107 alias Hb Kurashiki-I
HbVar.107 alias Hb Asabara
HbVar.107 ethnic Chinese
HbVar.107 ethnic Thai
HbVar.107 ethnic Japanese
HbVar.107 phenoCommon Hemoglobin variant
HbVar.108 protEffect HBA2 or HBA1 75(EF3) Asp>Ala
HbVar.108 commonName Hb Lille
HbVar.108 ethnic Algerian
HbVar.108 phenoCommon Hemoglobin variant
HbVar.109 protEffect HBA2 or HBA1 75(EF3) Asp>Asn
HbVar.109 commonName Hb G-Pest
HbVar.109 ethnic Hungarian
HbVar.109 phenoCommon Hemoglobin variant
HbVar.110 protEffect HBA1 75(EF3) Asp>Gly
HbVar.110 commonName Hb Chapel Hill
HbVar.110 ethnic Caucasian
HbVar.110 ethnic Chinese
HbVar.110 phenoCommon Hemoglobin variant
HbVar.111 protEffect HBA2 or HBA1 76(EF4) Asp>His
HbVar.111 commonName Hb Q-Iran
HbVar.111 ethnic Iranian
HbVar.111 ethnic Turkish
HbVar.111 ethnic Pakistani
HbVar.111 phenoCommon Hemoglobin variant
HbVar.112 protEffect HBA1 76(EF4) Asp>Ala
HbVar.112 commonName Hb Duan
HbVar.112 ethnic Chinese
HbVar.112 phenoCommon Hemoglobin variant
HbVar.113 protEffect HBA2 or HBA1 76(EF4) Asp>Tyr
HbVar.113 commonName Hb Winnipeg
HbVar.113 ethnic Caucasian
HbVar.113 ethnic Sardinian
HbVar.113 phenoCommon Hemoglobin variant
HbVar.114 protEffect HBA2 or HBA1 76(EF4) Asp>Asn
HbVar.114 commonName Hb Matsue-Oki
HbVar.114 ethnic Japanese
HbVar.114 ethnic Black
HbVar.114 phenoCommon Hemoglobin variant
HbVar.115 protEffect HBA2 or HBA1 76(EF4) Asp>Gly
HbVar.115 commonName Hb Mizushi
HbVar.115 ethnic Japanese
HbVar.115 phenoCommon Hemoglobin variant
HbVar.116 protEffect HBA2 or HBA1 77(EF5) Met>Lys
HbVar.116 commonName Hb Noko
HbVar.116 phenoCommon Hemoglobin variant
HbVar.117 protEffect HBA2 or HBA1 77(EF5) Met>Thr
HbVar.117 commonName Hb Aztec
HbVar.117 ethnic Mexican
HbVar.117 ethnic Spanish
HbVar.117 phenoCommon Hemoglobin variant
HbVar.118 protEffect HBA2 or HBA1 78(EF6) Pro>Arg
HbVar.118 commonName Hb GuiZhou
HbVar.118 ethnic Chinese
HbVar.118 ethnic Japanese
HbVar.118 phenoCommon Hemoglobin variant
HbVar.119 protEffect HBA2 or HBA1 79(EF7) Asn>Lys
HbVar.119 commonName Hb Stanleyville-II
HbVar.119 ethnic Black
HbVar.119 phenoCommon Hemoglobin variant
HbVar.120 protEffect HBA2 or HBA1 79(EF7) Asn>Asp
HbVar.120 commonName Hb J-Singa
HbVar.120 ethnic Acadian
HbVar.120 ethnic French
HbVar.120 phenoCommon Hemoglobin variant
HbVar.121 protEffect HBA1 79(EF7) Asn>His
HbVar.121 commonName Hb Davenport
HbVar.121 ethnic German
HbVar.121 phenoCommon Hemoglobin variant
HbVar.122 protEffect HBA2 or HBA1 80(EF8) Ala>Thr
HbVar.122 commonName Hb Mantes-La-Jolie
HbVar.122 ethnic Chadian
HbVar.122 phenoCommon Hemoglobin variant
HbVar.123 protEffect HBA2 or HBA1 81(F1) Leu>Arg
HbVar.123 commonName Hb Ann Arbor
HbVar.123 ethnic Caucasian
HbVar.123 phenoCommon Hemoglobin variant
HbVar.124 protEffect HBA2 81(F1) Leu>Val
HbVar.124 commonName Hb Conakry
HbVar.124 ethnic Guinean
HbVar.124 phenoCommon Hemoglobin variant
HbVar.125 protEffect HBA2 or HBA1 82(F2) Ser>Cys
HbVar.125 commonName Hb Nigeria
HbVar.125 ethnic Nigerian
HbVar.125 phenoCommon Hemoglobin variant
HbVar.126 protEffect HBA2 or HBA1 83(F3) Ala>Asp
HbVar.126 commonName Hb Garden State
HbVar.126 phenoCommon Hemoglobin variant
HbVar.127 protEffect HBA2 84(F4) Leu>Pro
HbVar.127 commonName Hb Les Andelys
HbVar.127 ethnic French
HbVar.127 phenoCommon Hemoglobin variant
HbVar.128 protEffect HBA2 or HBA1 85(F5) Ser>Arg
HbVar.128 commonName Hb Etobicoke
HbVar.128 ethnic Irish
HbVar.128 ethnic French
HbVar.128 ethnic American Indian
HbVar.128 ethnic English
HbVar.128 phenoCommon Hemoglobin variant
HbVar.129 protEffect HBA2 or HBA1 86(F6) Asp>Asn
HbVar.129 commonName Hb G-Norfolk
HbVar.129 ethnic English
HbVar.129 phenoCommon Hemoglobin variant
HbVar.130 protEffect HBA2 or HBA1 86(F6) Asp>Tyr
HbVar.130 commonName Hb Atago
HbVar.130 ethnic Japanese
HbVar.130 phenoCommon Hemoglobin variant
HbVar.131 protEffect HBA2 86(F6) Asp>Val
HbVar.131 commonName Hb Inkster
HbVar.131 ethnic English
HbVar.131 ethnic German
HbVar.131 ethnic Black
HbVar.131 phenoCommon Hemoglobin variant
HbVar.132 protEffect HBA2 or HBA1 87(F7) Leu>Arg
HbVar.132 commonName Hb Moabit
HbVar.132 ethnic Turkish
HbVar.132 phenoCommon Hemoglobin variant
HbVar.133 protEffect HBA2 or HBA1 88(F8) His>Arg
HbVar.133 commonName Hb Iwata
HbVar.133 ethnic Japanese
HbVar.133 ethnic Chinese
HbVar.133 phenoCommon Hemoglobin variant
HbVar.134 protEffect HBA2 or HBA1 88(F8) His>Tyr
HbVar.134 commonName Hb M-Iwate
HbVar.134 alias Hb M-Kankakee
HbVar.134 alias Hb M-Oldenburg
HbVar.134 alias Hb M-Sendai
HbVar.134 ethnic Japanese
HbVar.134 ethnic Irish
HbVar.134 ethnic German
HbVar.134 ethnic Turkish
HbVar.134 ethnic Rumanian
HbVar.134 ethnic Scottish
HbVar.134 ethnic Caucasian
HbVar.134 ethnic Black
HbVar.134 phenoCommon Hemoglobin variant
HbVar.135 protEffect HBA2 or HBA1 88(F8) His>Asn
HbVar.135 commonName Hb Auckland
HbVar.135 ethnic New Zealand
HbVar.135 phenoCommon Hemoglobin variant
HbVar.136 protEffect HBA2 or HBA1 89(F9) Ala>Ser
HbVar.136 commonName Hb Loire
HbVar.136 ethnic French
HbVar.136 ethnic Algerian
HbVar.136 phenoCommon Hemoglobin variant
HbVar.137 protEffect HBA2 or HBA1 89(F9) Ala>Val
HbVar.137 commonName Hb Columbia Missouri
HbVar.137 ethnic Caucasian
HbVar.137 phenoCommon Hemoglobin variant
HbVar.138 protEffect HBA2 or HBA1 89(F9) Ala>Gly
HbVar.138 commonName Hb Valparaiso
HbVar.138 ethnic Chilean
HbVar.138 phenoCommon Hemoglobin variant
HbVar.139 protEffect HBA2 or HBA1 90(FG1) His>Leu
HbVar.139 commonName Hb Luton
HbVar.139 ethnic Pakistani
HbVar.139 phenoCommon Hemoglobin variant
HbVar.140 protEffect HBA2 or HBA1 90(FG1) His>Tyr
HbVar.140 commonName Hb Villeurbanne
HbVar.140 phenoCommon Hemoglobin variant
HbVar.141 protEffect HBA2 or HBA1 90(FG1) His>Pro
HbVar.141 commonName Hb Tokyo
HbVar.141 ethnic Japanese
HbVar.141 phenoCommon Hemoglobin variant
HbVar.142 protEffect HBA2 91(FG2) Lys>Asn OR HBA1 91(FG2) Lys>Asn
HbVar.142 commonName Hb J-Broussais
HbVar.142 alias Hb Tagawa-I
HbVar.142 ethnic French
HbVar.142 ethnic Australian
HbVar.142 ethnic French Canadian
HbVar.142 ethnic Japanese
HbVar.142 phenoCommon Hemoglobin variant
HbVar.143 protEffect HBA1 91(FG2) Lys>Thr
HbVar.143 commonName Hb J-Rajappen
HbVar.143 ethnic Indian
HbVar.143 phenoCommon Hemoglobin variant
HbVar.144 protEffect HBA2 or HBA1 91(FG2) Lys>Met
HbVar.144 commonName Hb Handa
HbVar.144 alias Hb Munakata
HbVar.144 ethnic Japanese
HbVar.144 phenoCommon Hemoglobin variant
HbVar.145 protEffect HBA2 or HBA1 92(FG3) Leu>Pro
HbVar.145 commonName Hb Port Phillip
HbVar.145 ethnic Chinese
HbVar.145 phenoCommon Hemoglobin variant
HbVar.146 protEffect HBA2 or HBA1 93(FG4) Arg>Gln
HbVar.146 commonName Hb J-Cape Town
HbVar.146 ethnic Japanese
HbVar.146 ethnic South African
HbVar.146 phenoCommon Hemoglobin variant
HbVar.147 protEffect HBA2 or HBA1 93(FG4) Arg>Trp
HbVar.147 commonName Hb Cemenelum
HbVar.147 ethnic French Caucasian
HbVar.147 phenoCommon Hemoglobin variant
HbVar.148 protEffect HBA2 or HBA1 93(FG4) Arg>Leu
HbVar.148 commonName Hb Chesapeake
HbVar.148 ethnic German
HbVar.148 ethnic Irish
HbVar.148 ethnic Japanese
HbVar.148 phenoCommon Hemoglobin variant
HbVar.149 protEffect HBA2 93(FG4) Arg>Pro
HbVar.149 commonName Hb Monou
HbVar.149 ethnic Japanese
HbVar.149 phenoCommon Hemoglobin variant
HbVar.150 protEffect HBA2 94(FG5) Val>Gly
HbVar.150 commonName Hb Bronte
HbVar.150 ethnic Italian
HbVar.150 phenoCommon Hemoglobin variant
HbVar.151 protEffect HBA2 or HBA1 95(G1) Asp>Asn
HbVar.151 commonName Hb Titusville
HbVar.151 ethnic Black
HbVar.151 ethnic Scandinavian
HbVar.151 phenoCommon Hemoglobin variant
HbVar.152 protEffect HBA2 95(G1) Asp>Tyr
HbVar.152 commonName Hb Setif
HbVar.152 ethnic Algerian
HbVar.152 ethnic Iranian
HbVar.152 ethnic Lebanese
HbVar.152 ethnic Saudi Arabian
HbVar.152 phenoCommon Hemoglobin variant
HbVar.153 protEffect HBA2 95(G1) Asp>His
HbVar.153 commonName Hb Sunshine Seth
HbVar.153 ethnic Caucasian
HbVar.153 phenoCommon Hemoglobin variant
HbVar.154 protEffect HBA1 95(G1) Asp>Gly
HbVar.154 commonName Hb Capa
HbVar.154 ethnic Turkish
HbVar.154 phenoCommon Hemoglobin variant
HbVar.155 protEffect HBA2 or HBA1 95(G1) Asp>Glu
HbVar.155 commonName Hb Roanne
HbVar.155 ethnic French
HbVar.155 phenoCommon Hemoglobin variant
HbVar.156 protEffect HBA2 or HBA1 95(G1) Asp>Ala
HbVar.156 commonName Hb Bassett
HbVar.156 ethnic Caucasian
HbVar.156 phenoCommon Hemoglobin variant
HbVar.157 protEffect HBA2 96(G2) Pro>Leu
HbVar.157 commonName Hb G-Georgia
HbVar.157 ethnic Black
HbVar.157 ethnic Portuguese
HbVar.157 phenoCommon Hemoglobin variant
HbVar.158 protEffect HBA2 or HBA1 96(G2) Pro>Ser
HbVar.158 commonName Hb Rampa
HbVar.158 ethnic Indian
HbVar.158 ethnic North European
HbVar.158 phenoCommon Hemoglobin variant
HbVar.159 protEffect HBA2 or HBA1 96(G2) Pro>Ala
HbVar.159 commonName Hb Denmark Hill
HbVar.159 ethnic West Indian
HbVar.159 ethnic Spanish
HbVar.159 phenoCommon Hemoglobin variant
HbVar.160 protEffect HBA1 96(G2) Pro>Arg
HbVar.160 commonName Hb St. Luke's
HbVar.160 ethnic Maltese
HbVar.160 ethnic Japanese
HbVar.160 phenoCommon Hemoglobin variant
HbVar.161 protEffect HBA2 or HBA1 96(G2) Pro>Thr
HbVar.161 commonName Hb Godavari
HbVar.161 ethnic Indian
HbVar.161 ethnic Malay
HbVar.161 ethnic African
HbVar.161 phenoCommon Hemoglobin variant
HbVar.162 protEffect HBA2 98(G4) Asn>Lys
HbVar.162 commonName Hb Dallas
HbVar.162 ethnic Caucasian
HbVar.162 phenoCommon Hemoglobin variant
HbVar.163 protEffect HBA2 98(G4) Asn>His
HbVar.163 commonName Hb Fuchu-II
HbVar.163 alias Hb Shinbashi
HbVar.163 ethnic Japanese
HbVar.163 phenoCommon Hemoglobin variant
HbVar.164 protEffect HBA2 or HBA1 100(G6) Lys>Glu
HbVar.164 commonName Hb Turriff
HbVar.164 ethnic Scottish
HbVar.164 phenoCommon Hemoglobin variant
HbVar.165 protEffect HBA2 103(G9) Ser>Arg
HbVar.165 commonName Hb Manitoba I
HbVar.165 ethnic English
HbVar.165 ethnic German
HbVar.165 ethnic Irish
HbVar.165 ethnic Italian
HbVar.165 phenoCommon Hemoglobin variant
HbVar.166 protEffect HBA2 or HBA1 104(G10) His>Arg
HbVar.166 commonName Hb Contaldo
HbVar.166 ethnic Italian
HbVar.166 phenoCommon Hemoglobin variant
HbVar.167 protEffect HBA2 105(G11) Cys>Tyr
HbVar.167 commonName Hb Sallanches
HbVar.167 alias Codon 104 (G->A) of the alpha2 gene; TGC->TAC alpha-Thal-2
HbVar.167 ethnic French Caucasian
HbVar.167 ethnic Indian
HbVar.167 ethnic Pakistani
HbVar.167 phenoCommon Thalassemia
HbVar.167 phenoCommon Splenomegaly
HbVar.167 phenoCommon hemolytic Anemia
HbVar.167 phenoCommon hemolytic crisis induced by oxidative stress Anemia
HbVar.168 protEffect HBA2 110(G16) Leu>Arg
HbVar.168 commonName Hb Suan-Dok
HbVar.168 alias Codon 109 (T->G) of the alpha2 gene; CTG->CGG alpha-Thal-2
HbVar.168 ethnic Thai
HbVar.168 phenoCommon Thalassemia
HbVar.169 protEffect HBA2 or HBA1 111(G17) Ala>Asp
HbVar.169 commonName Hb Petah Tikva
HbVar.169 alias Codon 110 (C->A); alpha2 or alpha1 gene; GCC->GAC alpha-Thal-2
HbVar.169 ethnic Iraqi Jews
HbVar.169 phenoCommon alpha-2 thalassemia
HbVar.170 protEffect HBA2 or HBA1 111(G17) Ala>Thr
HbVar.170 commonName Hb Tonosho
HbVar.170 ethnic Japanese
HbVar.170 phenoCommon Hemoglobin variant
HbVar.171 protEffect HBA2 112(G18) Ala>Val
HbVar.171 commonName Hb Anamosa
HbVar.171 ethnic Caucasian
HbVar.171 phenoCommon Hemoglobin variant
HbVar.172 protEffect HBA2 or HBA1 112(G18) Ala>Thr
HbVar.172 commonName Hb Mosella
HbVar.172 ethnic Luxembourg
HbVar.172 phenoCommon Hemoglobin variant
HbVar.173 protEffect HBA2 or HBA1 113(G19) His>Asp
HbVar.173 commonName Hb Hopkins-II
HbVar.173 ethnic Caucasian
HbVar.173 phenoCommon Hemoglobin variant
HbVar.174 protEffect HBA2 or HBA1 113(G19) His>Arg
HbVar.174 commonName Hb Strumica
HbVar.174 alias Hb Serbia
HbVar.174 ethnic Serbian
HbVar.174 ethnic Turkish
HbVar.174 ethnic Macedonian
HbVar.174 phenoCommon Hemoglobin variant
HbVar.175 protEffect HBA2 or HBA1 114(GH1) Leu>His
HbVar.175 commonName Hb Twin Peaks
HbVar.175 ethnic Irish
HbVar.175 ethnic Mexican
HbVar.175 phenoCommon Hemoglobin variant
HbVar.176 protEffect HBA2 or HBA1 115(GH2) Pro>Arg
HbVar.176 commonName Hb Chiapas
HbVar.176 ethnic Mexican
HbVar.176 phenoCommon Hemoglobin variant
HbVar.177 protEffect HBA2 or HBA1 115(GH2) Pro>Leu
HbVar.177 commonName Hb Nouakchott
HbVar.177 ethnic Northwest African
HbVar.177 phenoCommon Hemoglobin variant
HbVar.178 protEffect HBA2 or HBA1 115(GH2) Pro>Ser
HbVar.178 commonName Hb Melusine
HbVar.178 ethnic Algerian
HbVar.178 phenoCommon Hemoglobin variant
HbVar.179 protEffect HBA2 or HBA1 116(GH3) Ala>Asp
HbVar.179 commonName Hb J-Tongariki
HbVar.179 ethnic Melanesian
HbVar.179 ethnic Kilengi
HbVar.179 phenoCommon Hemoglobin variant
HbVar.180 protEffect HBA1 117(GH4) Glu>Lys
HbVar.180 commonName Hb O-Indonesia
HbVar.180 alias Hb Oliviere
HbVar.180 alias Hb Buginese-X
HbVar.180 ethnic Buginese
HbVar.180 ethnic Chinese
HbVar.180 ethnic Iranian
HbVar.180 ethnic Italian
HbVar.180 ethnic Makassars
HbVar.180 ethnic South African
HbVar.180 phenoCommon Hemoglobin variant
HbVar.181 protEffect HBA2 or HBA1 117(GH4) Glu>Ala
HbVar.181 commonName Hb Ube-4
HbVar.181 ethnic Japanese
HbVar.181 ethnic Korean
HbVar.181 phenoCommon Hemoglobin variant
HbVar.182 protEffect HBA2 or HBA1 117(GH4) Glu>Gln
HbVar.182 commonName Hb Oleander
HbVar.182 ethnic Black
HbVar.182 phenoCommon Hemoglobin variant
HbVar.183 protEffect HBA2 or HBA1 121(H3) Ala>Glu
HbVar.183 commonName Hb J-Meerut
HbVar.183 alias Hb J-Birmingham
HbVar.183 ethnic Indian
HbVar.183 ethnic Japanese
HbVar.183 ethnic Turkish
HbVar.183 phenoCommon Hemoglobin variant
HbVar.184 protEffect HBA2 or HBA1 122(H4) Val>Met
HbVar.184 commonName Hb Owari
HbVar.184 ethnic Japanese
HbVar.184 phenoCommon Hemoglobin variant
HbVar.185 protEffect HBA2 123(H5) His>Gln
HbVar.185 commonName Hb Westmead
HbVar.185 ethnic Laotian
HbVar.185 ethnic Chinese
HbVar.185 phenoCommon Hemoglobin variant
HbVar.186 protEffect HBA1 124(H6) Ala>Ser
HbVar.186 commonName Hb Mulhacen
HbVar.186 ethnic Spanish
HbVar.186 phenoCommon Hemoglobin variant
HbVar.187 protEffect HBA2 126(H8) Leu>Pro
HbVar.187 commonName Hb Quong Sze
HbVar.187 alias Codon 125 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2
HbVar.187 ethnic Chinese
HbVar.187 phenoCommon alpha-2 thalassemia
HbVar.188 protEffect HBA2 or HBA1 127(H9) Asp>Asn
HbVar.188 commonName Hb Tarrant
HbVar.188 ethnic Mexican
HbVar.188 phenoCommon Hemoglobin variant
HbVar.188 phenoCommon mild Erythrocytosis
HbVar.189 protEffect HBA1 127(H9) Asp>His
HbVar.189 commonName Hb Sassari
HbVar.189 ethnic Northern Sardinia
HbVar.189 phenoCommon Hemoglobin variant
HbVar.190 protEffect HBA2 or HBA1 127(H9) Asp>Val
HbVar.190 commonName Hb Fukutomi
HbVar.190 ethnic Japanese
HbVar.190 phenoCommon Hemoglobin variant
HbVar.191 protEffect HBA2 or HBA1 127(H9) Asp>Tyr
HbVar.191 commonName Hb Montefiore
HbVar.191 ethnic Puerto Rican
HbVar.191 phenoCommon Hemoglobin variant
HbVar.192 protEffect HBA2 or HBA1 127(H9) Asp>Gly
HbVar.192 commonName Hb West One
HbVar.192 ethnic Egyptian
HbVar.192 phenoCommon Hemoglobin variant
HbVar.193 protEffect HBA2 or HBA1 128(H10) Lys>Thr
HbVar.193 commonName Hb St. Claude
HbVar.193 ethnic French Canadian
HbVar.193 phenoCommon Hemoglobin variant
HbVar.194 protEffect HBA2 or HBA1 128(H10) Lys>Asn
HbVar.194 commonName Hb Jackson
HbVar.194 ethnic Black
HbVar.194 phenoCommon Hemoglobin variant
HbVar.195 protEffect HBA1 130(H12) Leu>Pro
HbVar.195 commonName Hb Tunis-Bizerte
HbVar.195 alias Hb Utrecht
HbVar.195 ethnic Tunisian
HbVar.195 phenoCommon Hemoglobin variant
HbVar.195 phenoCommon marked Anemia
HbVar.195 phenoCommon Microcytosis
HbVar.196 protEffect HBA2 130(H12) Leu>Pro
HbVar.196 commonName Hb Utrecht
HbVar.196 alias Codon 129 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2
HbVar.196 ethnic Polish
HbVar.196 ethnic Indonesian
HbVar.196 ethnic Armenian
HbVar.196 phenoCommon alpha-2 thalassemia
HbVar.197 protEffect HBA2 131(H13) Ala>Pro
HbVar.197 commonName Hb Sun Prairie
HbVar.197 alias Codon 130 (G->C) of the alpha2 gene; GCT->CCT alpha-Thal-2
HbVar.197 ethnic Indian
HbVar.197 phenoCommon alpha-2 thalassemia
HbVar.197 phenoCommon moderate Splenomegaly
HbVar.197 phenoCommon Heinz bodies
HbVar.198 protEffect HBA2 131(H13) Ala>Asp
HbVar.198 commonName Hb Yuda
HbVar.198 ethnic Japanese
HbVar.198 phenoCommon Hemoglobin variant
HbVar.199 protEffect HBA2 or HBA1 132(H14) Ser>Pro
HbVar.199 commonName Hb Questembert
HbVar.199 alias Codon 131 (T->C) at codon 131 of the alpha2 gene; TCT->CCT alpha-Thal-2
HbVar.199 ethnic French
HbVar.199 phenoCommon alpha-2 thalassemia
HbVar.200 protEffect HBA2 or HBA1 133(H15) Val>Gly
HbVar.200 commonName Hb Caen
HbVar.200 ethnic French Caucasian
HbVar.200 phenoCommon Hemoglobin variant
HbVar.201 protEffect HBA2 or HBA1 134(H16) Ser>Arg
HbVar.201 commonName Hb Val de Marne
HbVar.201 alias Hb Footscray
HbVar.201 ethnic Chinese
HbVar.201 ethnic French
HbVar.201 ethnic Hungarian
HbVar.201 ethnic Polish
HbVar.201 phenoCommon Hemoglobin variant
HbVar.202 protEffect HBA2 or HBA1 134(H16) Ser>Asn
HbVar.202 commonName Hb Saclay
HbVar.202 ethnic Algerian
HbVar.202 ethnic Alsatian
HbVar.202 phenoCommon Hemoglobin variant
HbVar.203 protEffect HBA2 or HBA1 136(H18) Val>Glu
HbVar.203 commonName Hb Pavie
HbVar.203 ethnic Italian
HbVar.203 phenoCommon Hemoglobin variant
HbVar.204 protEffect HBA2 137(H19) Leu>Pro
HbVar.204 commonName Hb Bibba
HbVar.204 ethnic Caucasian
HbVar.204 phenoCommon Hemoglobin variant
HbVar.205 protEffect HBA2 or HBA1 137(H19) Leu>Arg
HbVar.205 commonName Hb Toyama
HbVar.205 ethnic Japanese
HbVar.205 phenoCommon Hemoglobin variant
HbVar.206 protEffect HBA2 137(H19) Leu>Met
HbVar.206 commonName Hb Chicago
HbVar.206 ethnic Black
HbVar.206 phenoCommon Hemoglobin variant
HbVar.207 protEffect HBA2 or HBA1 139(H21) Ser>Pro
HbVar.207 commonName Hb Attleboro
HbVar.207 phenoCommon Hemoglobin variant
HbVar.208 protEffect HBA2 or HBA1 140(HC1) Lys>Thr
HbVar.208 commonName Hb Tokoname
HbVar.208 ethnic Japanese
HbVar.208 phenoCommon Hemoglobin variant
HbVar.209 protEffect HBA1 140(HC1) Lys>Glu
HbVar.209 commonName Hb Hanamaki-1
HbVar.209 ethnic Japanese
HbVar.209 phenoCommon Hemoglobin variant
HbVar.210 protEffect HBA2 or HBA1 141(HC2) Tyr>His
HbVar.210 commonName Hb Ethiopia
HbVar.210 alias Hb Rouen
HbVar.210 ethnic Ethiopian
HbVar.210 ethnic French
HbVar.210 phenoCommon Hemoglobin variant
HbVar.211 protEffect HBA2 or HBA1 142(HC3) Arg>Pro
HbVar.211 commonName Hb Singapore
HbVar.211 ethnic Singapore
HbVar.211 phenoCommon Hemoglobin variant
HbVar.212 protEffect HBA2 or HBA1 142(HC3) Arg>His
HbVar.212 commonName Hb Suresnes
HbVar.212 ethnic French
HbVar.212 ethnic Black
HbVar.212 phenoCommon Hemoglobin variant
HbVar.213 protEffect HBA2 or HBA1 142(HC3) Arg>Ser
HbVar.213 commonName Hb J-Cubujuqui
HbVar.213 ethnic American Indian
HbVar.213 ethnic Mexican
HbVar.213 phenoCommon Hemoglobin variant
HbVar.214 protEffect HBA2 or HBA1 142(HC3) Arg>Leu
HbVar.214 commonName Hb Legnano
HbVar.214 ethnic Italian
HbVar.214 ethnic Japanese
HbVar.214 phenoCommon Hemoglobin variant
HbVar.215 protEffect HBA2 or HBA1 142(HC3) Arg>Gly
HbVar.215 commonName Hb J-Camaguey
HbVar.215 ethnic Spanish
HbVar.215 ethnic Chinese
HbVar.215 ethnic Australian
HbVar.215 phenoCommon Hemoglobin variant
HbVar.216 protEffect HBA2 or HBA1 142(HC3) Arg>Cys
HbVar.216 commonName Hb Nunobiki
HbVar.216 ethnic Japanese
HbVar.216 phenoCommon Hemoglobin variant
HbVar.217 protEffect HBB 2(NA1) Val>Ala
HbVar.217 commonName Hb Raleigh
HbVar.217 ethnic Swedish
HbVar.217 ethnic Caucasian
HbVar.217 phenoCommon Hemoglobin variant
HbVar.218 protEffect HBB 2(NA1) Val>Leu
HbVar.218 commonName Hb Niigata
HbVar.218 ethnic Japanese
HbVar.218 phenoCommon Hemoglobin variant
HbVar.219 protEffect HBB 3(NA2) His>Arg
HbVar.219 commonName Hb Deer Lodge
HbVar.219 ethnic Welsh
HbVar.219 ethnic Dutch
HbVar.219 ethnic English
HbVar.219 ethnic Black
HbVar.219 phenoCommon Hemoglobin variant
HbVar.220 protEffect HBB 3(NA2) His>Gln
HbVar.220 commonName Hb Okayama
HbVar.220 ethnic Japanese
HbVar.220 phenoCommon Hemoglobin variant
HbVar.221 protEffect HBB 3(NA2) His>Tyr
HbVar.221 commonName Hb Fukuoka
HbVar.221 ethnic Japanese
HbVar.221 phenoCommon Hemoglobin variant
HbVar.222 protEffect HBB 3(NA2) His>Leu
HbVar.222 commonName Hb Graz
HbVar.222 ethnic Austrian
HbVar.222 phenoCommon Hemoglobin variant
HbVar.223 protEffect HBB 3(NA2) His>Pro
HbVar.223 commonName Hb Agrigente
HbVar.223 ethnic Sicilian
HbVar.223 phenoCommon Hemoglobin variant
HbVar.224 protEffect HBB 6(A2) Pro>Arg
HbVar.224 commonName Hb Warwickshire
HbVar.224 ethnic Scottish
HbVar.224 phenoCommon Hemoglobin variant
HbVar.225 protEffect HBB 6(A2) Pro>Ser
HbVar.225 commonName Hb Tyne
HbVar.225 ethnic English
HbVar.225 phenoCommon Hemoglobin variant
HbVar.226 protEffect HBB 7(A3) Glu>Val
HbVar.226 commonName Hb S
HbVar.226 ethnic Black
HbVar.226 ethnic American Indian
HbVar.226 phenoCommon Hemoglobin variant
HbVar.226 phenoCommon hemolytic Anemia
HbVar.226 phenoCommon Jaundice
HbVar.227 protEffect HBB 7(A3) Glu>Lys
HbVar.227 commonName Hb C
HbVar.227 ethnic Black
HbVar.227 phenoCommon Hemoglobin variant
HbVar.227 phenoCommon Target cells
HbVar.227 phenoCommon hemolytic Anemia
HbVar.227 phenoCommon mild Anemia
HbVar.227 phenoCommon Intraerythrocytic crystals
HbVar.228 protEffect HBB 7(A3) Glu>Ala
HbVar.228 commonName Hb G-Makassar
HbVar.228 ethnic Indonesian
HbVar.228 ethnic Thai
HbVar.228 phenoCommon Hemoglobin variant
HbVar.228 phenoCommon Normal
HbVar.229 protEffect HBB 7(A3) Glu>Gln
HbVar.229 commonName Hb Machida
HbVar.229 ethnic Japanese
HbVar.229 phenoCommon Hemoglobin variant
HbVar.230 protEffect HBB 8(A4) Glu>Gly
HbVar.230 commonName Hb G-San Jose
HbVar.230 ethnic Italian
HbVar.230 ethnic Mexican
HbVar.230 phenoCommon Hemoglobin variant
HbVar.230 phenoCommon Normal
HbVar.231 protEffect HBB 8(A4) Glu>Lys
HbVar.231 commonName Hb G-Siriraj
HbVar.231 ethnic Thai
HbVar.231 ethnic Chinese
HbVar.231 phenoCommon Hemoglobin variant
HbVar.232 protEffect HBB 9(A5) Lys>Thr
HbVar.232 commonName Hb Rio Grande
HbVar.232 ethnic Mexican
HbVar.232 phenoCommon Hemoglobin variant
HbVar.233 protEffect HBB 9(A5) Lys>Gln
HbVar.233 commonName Hb J-Luhe
HbVar.233 ethnic Chinese
HbVar.233 phenoCommon Hemoglobin variant
HbVar.234 protEffect HBB 9(A5) Lys>Glu
HbVar.234 commonName Hb N-Timone
HbVar.234 ethnic Italian
HbVar.234 ethnic French
HbVar.234 phenoCommon Hemoglobin variant
HbVar.235 protEffect HBB 9(A5) Lys>Met
HbVar.235 commonName Hb Nakano
HbVar.235 ethnic Japanese
HbVar.235 phenoCommon Hemoglobin variant
HbVar.236 protEffect HBB 10(A6) Ser>Cys
HbVar.236 commonName Hb Porto Alegre
HbVar.236 ethnic Argentine
HbVar.236 ethnic Brazilian
HbVar.236 ethnic Canary Islands
HbVar.236 phenoCommon Hemoglobin variant
HbVar.236 phenoCommon Normal
HbVar.237 protEffect HBB 11(A7) Ala>Asp
HbVar.237 commonName Hb Ankara
HbVar.237 ethnic Turkish
HbVar.237 ethnic Japanese
HbVar.237 phenoCommon Hemoglobin variant
HbVar.238 protEffect HBB 11(A7) Ala>Val
HbVar.238 commonName Hb Iraq-Halabja
HbVar.238 ethnic Iraqi
HbVar.238 phenoCommon Hemoglobin variant
HbVar.239 protEffect HBB 12(A8) Val>Ile
HbVar.239 commonName Hb Hamilton
HbVar.239 ethnic Austrian
HbVar.239 ethnic Chinese
HbVar.239 ethnic Sardinian
HbVar.239 phenoCommon Hemoglobin variant
HbVar.240 protEffect HBB 12(A8) Val>Asp
HbVar.240 commonName Hb Windsor
HbVar.240 ethnic Anglo-Saxon
HbVar.240 phenoCommon Hemoglobin variant
HbVar.241 protEffect HBB 12(A8) Val>Phe
HbVar.241 commonName Hb Washtenaw
HbVar.241 ethnic Hungarian
HbVar.241 ethnic American
HbVar.241 phenoCommon Hemoglobin variant
HbVar.242 protEffect HBB 14(A10) Ala>Asp
HbVar.242 commonName Hb J-Lens
HbVar.242 ethnic French
HbVar.242 phenoCommon Hemoglobin variant
HbVar.243 protEffect HBB 15(A11) Leu>Arg
HbVar.243 commonName Hb Sogn
HbVar.243 ethnic Norwegian
HbVar.243 ethnic American
HbVar.243 phenoCommon Hemoglobin variant
HbVar.244 protEffect HBB 15(A11) Leu>Pro
HbVar.244 commonName Hb Saki
HbVar.244 ethnic African
HbVar.244 ethnic Caucasian
HbVar.244 phenoCommon Hemoglobin variant
HbVar.245 protEffect HBB 16(A12) Trp>Arg
HbVar.245 commonName Hb Belfast
HbVar.245 ethnic French
HbVar.245 ethnic Irish
HbVar.245 ethnic Italian
HbVar.245 phenoCommon Hemoglobin variant
HbVar.246 protEffect HBB 16(A12) Trp>Gly
HbVar.246 commonName Hb Randwick
HbVar.246 ethnic North Italian
HbVar.246 phenoCommon Hemoglobin variant
HbVar.247 protEffect HBB 17(A13) Gly>Asp
HbVar.247 commonName Hb J-Baltimore
HbVar.247 alias Hb J-Trinidad
HbVar.247 alias Hb J-Ireland
HbVar.247 alias Hb N-New Haven
HbVar.247 alias Hb J-Georgia
HbVar.247 ethnic Black
HbVar.247 ethnic English
HbVar.247 ethnic Dutch
HbVar.247 ethnic French
HbVar.247 ethnic Swedish
HbVar.247 ethnic Spanish
HbVar.247 phenoCommon Hemoglobin variant
HbVar.248 protEffect HBB 17(A13) Gly>Arg
HbVar.248 commonName Hb D-Bushman
HbVar.248 ethnic Kalahari Bushman
HbVar.248 phenoCommon Hemoglobin variant
HbVar.249 protEffect HBB 18(A14) Lys>Glu
HbVar.249 commonName Hb Nagasaki
HbVar.249 ethnic Japanese
HbVar.249 phenoCommon Hemoglobin variant
HbVar.250 protEffect HBB 18(A14) Lys>Asn
HbVar.250 commonName Hb J-Amiens
HbVar.250 ethnic Spanish
HbVar.250 ethnic Japanese
HbVar.250 phenoCommon Hemoglobin variant
HbVar.251 protEffect HBB 18(A14) Lys>Gln
HbVar.251 commonName Hb Nikosia
HbVar.251 ethnic Cypriot
HbVar.251 phenoCommon Hemoglobin variant
HbVar.252 protEffect HBB 19(A15) Val>Met
HbVar.252 commonName Hb Baden
HbVar.252 ethnic East German
HbVar.252 phenoCommon Hemoglobin variant
HbVar.253 protEffect HBB 19(A15) Val>Gly
HbVar.253 commonName Hb Sinai-Baltimore
HbVar.253 ethnic Black
HbVar.253 phenoCommon Hemoglobin variant
HbVar.254 protEffect HBB 20(B1) Asn>Lys
HbVar.254 commonName Hb D-Ouled Rabah
HbVar.254 ethnic Algerian
HbVar.254 ethnic Tuareg tribe
HbVar.254 phenoCommon Hemoglobin variant
HbVar.255 protEffect HBB 20(B1) Asn>Asp
HbVar.255 commonName Hb Alamo
HbVar.255 ethnic Black
HbVar.255 phenoCommon Hemoglobin variant
HbVar.256 protEffect HBB 20(B1) Asn>Ser
HbVar.256 commonName Hb Malay
HbVar.256 alias Codon 19 (A->G); AAC(Asn)->AGC(Ser) beta+
HbVar.256 ethnic Thai
HbVar.256 ethnic Malaysian
HbVar.256 ethnic Singapore
HbVar.256 ethnic Chinese
HbVar.256 phenoCommon beta+ thalassemia
HbVar.256 phenoCommon moderate Microcytosis
HbVar.256 phenoCommon moderate Hypochromia
HbVar.257 protEffect HBB 21(B2) Val>Met
HbVar.257 commonName Hb Olympia
HbVar.257 ethnic Caucasian
HbVar.257 ethnic Algerian
HbVar.257 ethnic French
HbVar.257 ethnic Tunisian
HbVar.257 phenoCommon Hemoglobin variant
HbVar.258 protEffect HBB 21(B2) Val>Glu
HbVar.258 commonName Hb Trollhattan
HbVar.258 ethnic Swedish
HbVar.258 phenoCommon Hemoglobin variant
HbVar.259 protEffect HBB 21(B2) Val>Gly
HbVar.259 commonName Hb Uxbridge
HbVar.259 ethnic English
HbVar.259 phenoCommon Hemoglobin variant
HbVar.260 protEffect HBB 22(B3) Asp>Tyr
HbVar.260 commonName Hb Yusa
HbVar.260 ethnic Japanese
HbVar.260 phenoCommon Hemoglobin variant
HbVar.261 protEffect HBB 22(B3) Asp>Gly
HbVar.261 commonName Hb Connecticut
HbVar.261 ethnic Polish
HbVar.261 phenoCommon Hemoglobin variant
HbVar.262 protEffect HBB 22(B3) Asp>Asn
HbVar.262 commonName Hb Cocody
HbVar.262 ethnic Ivory Coast
HbVar.262 ethnic Japanese
HbVar.262 phenoCommon Hemoglobin variant
HbVar.263 protEffect HBB 22(B3) Asp>His
HbVar.263 commonName Hb Karlskoga
HbVar.263 ethnic Swedish
HbVar.263 ethnic American
HbVar.263 phenoCommon Hemoglobin variant
HbVar.264 protEffect HBB 23(B4) Glu>Lys
HbVar.264 commonName Hb E-Saskatoon
HbVar.264 ethnic Greek
HbVar.264 ethnic Japanese
HbVar.264 ethnic Scottish
HbVar.264 ethnic Turkish
HbVar.264 phenoCommon Hemoglobin variant
HbVar.265 protEffect HBB 23(B4) Glu>Gly
HbVar.265 commonName Hb G-Taipei
HbVar.265 ethnic Chinese
HbVar.265 phenoCommon Hemoglobin variant
HbVar.266 protEffect HBB 23(B4) Glu>Ala
HbVar.266 commonName Hb G-Coushatta
HbVar.266 alias Hb G-Saskatoon
HbVar.266 alias Hb G-Hsin Chu
HbVar.266 alias Hb G-Taegu
HbVar.266 ethnic American Indian
HbVar.266 ethnic Algerian
HbVar.266 ethnic Chinese
HbVar.266 ethnic Japanese
HbVar.266 ethnic Korean
HbVar.266 ethnic Thai
HbVar.266 ethnic Turkish
HbVar.266 ethnic Egyptian
HbVar.266 phenoCommon Hemoglobin variant
HbVar.266 phenoCommon Normal
HbVar.267 protEffect HBB 23(B4) Glu>Gln
HbVar.267 commonName Hb D-Iran
HbVar.267 ethnic Iranian
HbVar.267 ethnic Pakistani
HbVar.267 ethnic Jamaican
HbVar.267 ethnic Italian
HbVar.267 phenoCommon Hemoglobin variant
HbVar.268 protEffect HBB 23(B4) Glu>Val
HbVar.268 commonName Hb D-Granada
HbVar.268 ethnic Gypsy
HbVar.268 phenoCommon Hemoglobin variant
HbVar.269 protEffect HBB 24(B5) Val>Asp
HbVar.269 commonName Hb Strasbourg
HbVar.269 ethnic Portuguese
HbVar.269 phenoCommon Hemoglobin variant
HbVar.270 protEffect HBB 24(B5) Val>Gly
HbVar.270 commonName Hb Miyashiro
HbVar.270 ethnic Japanese
HbVar.270 phenoCommon Hemoglobin variant
HbVar.271 protEffect HBB 24(B5) Val>Phe
HbVar.271 commonName Hb Palmerston North
HbVar.271 ethnic New Zealand
HbVar.271 ethnic American
HbVar.271 phenoCommon Hemoglobin variant
HbVar.272 protEffect HBB 25(B6) Gly>Arg
HbVar.272 commonName Hb Riverdale-Bronx
HbVar.272 ethnic German
HbVar.272 ethnic Jewish
HbVar.272 phenoCommon Hemoglobin variant
HbVar.273 protEffect HBB 25(B6) Gly>Val
HbVar.273 commonName Hb Savannah
HbVar.273 ethnic Caucasian
HbVar.273 phenoCommon Hemoglobin variant
HbVar.274 protEffect HBB 25(B6) Gly>Asp
HbVar.274 commonName Hb Moscva
HbVar.274 ethnic Russian
HbVar.274 phenoCommon Hemoglobin variant
HbVar.275 protEffect HBB 26(B7) Gly>Arg
HbVar.275 commonName Hb G-Taiwan-Ami
HbVar.275 ethnic Aborigine
HbVar.275 phenoCommon Hemoglobin variant
HbVar.276 protEffect HBB 26(B7) Gly>Asp
HbVar.276 commonName Hb J-Auckland
HbVar.276 ethnic Scandinavian
HbVar.276 ethnic Scottish
HbVar.276 phenoCommon Hemoglobin variant
HbVar.277 protEffect HBB 27(B8) Glu>Lys
HbVar.277 commonName Hb E
HbVar.277 alias Codon 26 (GAG->AAG) beta+
HbVar.277 ethnic Far East
HbVar.277 phenoCommon Thalassemia
HbVar.277 hap -++-+++-
HbVar.277 hap +-----+-
HbVar.277 hap -++-++-+
HbVar.277 hap +-++-++-
HbVar.277 hap +.----++
HbVar.277 phenoCommon mild Anemia
HbVar.277 phenoCommon hemolytic Anemia
HbVar.277 phenoCommon Target cells
HbVar.278 protEffect HBB 27(B8) Glu>Val
HbVar.278 commonName Hb Henri Mondor
HbVar.278 ethnic African
HbVar.278 phenoCommon Hemoglobin variant
HbVar.279 protEffect HBB 27(B8) Glu>Gly
HbVar.279 commonName Hb Aubenas
HbVar.279 ethnic French
HbVar.279 phenoCommon Hemoglobin variant
HbVar.280 protEffect HBB 28(B9) Ala>Asp
HbVar.280 commonName Hb Volga
HbVar.280 alias Hb Drenthe
HbVar.280 ethnic Russian
HbVar.280 ethnic Dutch
HbVar.280 ethnic Egyptian
HbVar.280 phenoCommon Hemoglobin variant
HbVar.281 protEffect HBB 28(B9) Ala>Ser
HbVar.281 commonName Hb Knossos
HbVar.281 alias Codon 27 (G->T); GCC(Ala)->TCC(Ser) beta+
HbVar.281 ethnic Jordan
HbVar.281 ethnic Egyptian
HbVar.281 ethnic Tunisian
HbVar.281 ethnic Algerian
HbVar.281 phenoCommon beta+ thalassemia
HbVar.281 phenoCommon moderate Anemia
HbVar.281 phenoCommon marked Microcytosis
HbVar.281 phenoCommon marked Hypochromia
HbVar.282 protEffect HBB 28(B9) Ala>Val
HbVar.282 commonName Hb Grange-Blanche
HbVar.282 ethnic Portuguese
HbVar.282 phenoCommon Hemoglobin variant
HbVar.283 protEffect HBB 28(B9) Ala>Gly
HbVar.283 commonName Hb Siirt
HbVar.283 ethnic Kurdish
HbVar.283 phenoCommon Hemoglobin variant
HbVar.284 protEffect HBB 29(B10) Leu>Gln
HbVar.284 commonName Hb Saint Louis
HbVar.284 ethnic Yugoslavian
HbVar.284 ethnic Slovakian
HbVar.284 ethnic French
HbVar.284 phenoCommon Hemoglobin variant
HbVar.285 protEffect HBB 29(B10) Leu>Pro
HbVar.285 commonName Hb Genova
HbVar.285 alias Hb Hyogo
HbVar.285 ethnic European
HbVar.285 ethnic East Indian
HbVar.285 ethnic Kenyan
HbVar.285 ethnic Cuban
HbVar.285 ethnic Libyan
HbVar.285 ethnic Japanese
HbVar.285 phenoCommon Hemoglobin variant
HbVar.286 protEffect HBB 29(B10) Leu>Arg
HbVar.286 commonName Hb Chesterfield
HbVar.286 alias Codon 28 (T->G); CTG(Leu)->CGG(Arg) beta+ (inclusion body or dominant beta-thal)
HbVar.286 ethnic English
HbVar.286 phenoCommon beta+ thalassemia
HbVar.287 protEffect HBB 29(B10) Leu>Met
HbVar.287 commonName Hb Chile
HbVar.287 ethnic American Indian
HbVar.287 phenoCommon Hemoglobin variant
HbVar.288 protEffect HBB 30(B11) Gly>Asp
HbVar.288 commonName Hb Lufkin
HbVar.288 ethnic Black
HbVar.288 phenoCommon Hemoglobin variant
HbVar.289 protEffect HBB 31(B12) Arg>Ser
HbVar.289 commonName Hb Tacoma
HbVar.289 ethnic Russian
HbVar.289 ethnic Finnish
HbVar.289 ethnic Swedish
HbVar.289 ethnic American
HbVar.289 phenoCommon Hemoglobin variant
HbVar.290 protEffect HBB 31(B12) Arg>Thr
HbVar.290 commonName Hb Monroe
HbVar.290 alias Hb Kairouan
HbVar.290 alias IVS-I (-1) or codon 30 (G->C); AG^GTTGGT->AC^GTTGGT beta0
HbVar.290 ethnic Black
HbVar.290 ethnic Libyan
HbVar.290 ethnic Tunisian
HbVar.290 phenoCommon beta0 thalassemia
HbVar.291 protEffect HBB 32(B13) Leu>Pro
HbVar.291 commonName Hb Yokohama
HbVar.291 ethnic Japanese
HbVar.291 ethnic Serbian
HbVar.291 ethnic Pakistani
HbVar.291 phenoCommon Hemoglobin variant
HbVar.292 protEffect HBB 32(B13) Leu>Arg
HbVar.292 commonName Hb Hakkari
HbVar.292 ethnic Turkish
HbVar.292 ethnic Yugoslavian
HbVar.292 phenoCommon Hemoglobin variant
HbVar.293 protEffect HBB 33(B14) Leu>Pro
HbVar.293 commonName Hb Perth
HbVar.293 alias Hb Kobe
HbVar.293 alias Hb Abraham Lincoln
HbVar.293 ethnic Australian
HbVar.293 ethnic Black
HbVar.293 ethnic French
HbVar.293 ethnic Hottentot
HbVar.293 ethnic Taiwanese
HbVar.293 phenoCommon Hemoglobin variant
HbVar.294 protEffect HBB 33(B14) Leu>Arg
HbVar.294 commonName Hb Castilla
HbVar.294 ethnic Spanish
HbVar.294 ethnic Asian Indian
HbVar.294 phenoCommon Hemoglobin variant
HbVar.295 protEffect HBB 33(B14) Leu>Val
HbVar.295 commonName Hb Muscat
HbVar.295 ethnic Arabian
HbVar.295 phenoCommon Hemoglobin variant
HbVar.296 protEffect HBB 35(B16) Val>Phe
HbVar.296 commonName Hb Pitie-Salpetriere
HbVar.296 ethnic Japanese
HbVar.296 ethnic French
HbVar.296 phenoCommon Hemoglobin variant
HbVar.297 protEffect HBB 36(C1) Tyr>Phe
HbVar.297 commonName Hb Philly
HbVar.297 ethnic German
HbVar.297 ethnic French
HbVar.297 ethnic Italian
HbVar.297 phenoCommon Hemoglobin variant
HbVar.298 protEffect HBB 37(C2) Pro>Thr
HbVar.298 commonName Hb Linkoping
HbVar.298 alias Hb Meilahti
HbVar.298 alias Hb Finlandia
HbVar.298 ethnic Finnish
HbVar.298 ethnic Dutch
HbVar.298 phenoCommon Hemoglobin variant
HbVar.299 protEffect HBB 37(C2) Pro>Ser
HbVar.299 commonName Hb North Chicago
HbVar.299 ethnic Black
HbVar.299 phenoCommon Hemoglobin variant
HbVar.300 protEffect HBB 37(C2) Pro>Arg
HbVar.300 commonName Hb Sunnybrook
HbVar.300 ethnic European
HbVar.300 phenoCommon Hemoglobin variant
HbVar.301 protEffect HBB 37(C2) Pro>His
HbVar.301 commonName Hb Vila Real
HbVar.301 ethnic Portuguese
HbVar.301 phenoCommon Hemoglobin variant
HbVar.302 protEffect HBB 38(C3) Trp>Ser
HbVar.302 commonName Hb Hirose
HbVar.302 ethnic Japanese
HbVar.302 phenoCommon Hemoglobin variant
HbVar.303 protEffect HBB 38(C3) Trp>Arg
HbVar.303 commonName Hb Rothschild
HbVar.303 ethnic Caucasian
HbVar.303 phenoCommon Hemoglobin variant
HbVar.304 protEffect HBB 38(C3) Trp>Gly
HbVar.304 commonName Hb Howick
HbVar.304 phenoCommon Hemoglobin variant
HbVar.305 protEffect HBB 39(C4) Thr>Pro
HbVar.305 commonName Hb Hazebrouck
HbVar.305 ethnic French
HbVar.305 phenoCommon Hemoglobin variant
HbVar.306 protEffect HBB 39(C4) Thr>Asn
HbVar.306 commonName Hb Hinwil
HbVar.306 ethnic Swiss
HbVar.306 phenoCommon Hemoglobin variant
HbVar.307 protEffect HBB 40(C5) Gln>Lys
HbVar.307 commonName Hb Alabama
HbVar.307 ethnic Black
HbVar.307 phenoCommon Hemoglobin variant
HbVar.308 protEffect HBB 40(C5) Gln>Glu
HbVar.308 commonName Hb Vaasa
HbVar.308 ethnic Finnish
HbVar.308 phenoCommon Hemoglobin variant
HbVar.309 protEffect HBB 40(C5) Gln>Arg
HbVar.309 commonName Hb Tianshui
HbVar.309 ethnic Chinese
HbVar.309 phenoCommon Hemoglobin variant
HbVar.310 protEffect HBB 41(C6) Arg>Lys
HbVar.310 commonName Hb Athens-GA
HbVar.310 alias Hb Waco
HbVar.310 ethnic Caucasian
HbVar.310 phenoCommon Hemoglobin variant
HbVar.311 protEffect HBB 41(C6) Arg>Ser
HbVar.311 commonName Hb Austin
HbVar.311 ethnic Mexican
HbVar.311 phenoCommon Hemoglobin variant
HbVar.312 protEffect HBB 42(C7) Phe>Tyr
HbVar.312 commonName Hb Mequon
HbVar.312 ethnic English
HbVar.312 ethnic Irish
HbVar.312 phenoCommon Hemoglobin variant
HbVar.313 protEffect HBB 42(C7) Phe>Ser
HbVar.313 commonName Hb Denver
HbVar.313 ethnic Caucasian
HbVar.313 phenoCommon Hemoglobin variant
HbVar.314 protEffect HBB 43(CD1) Phe>Ser
HbVar.314 commonName Hb Hammersmith
HbVar.314 alias Hb Chiba
HbVar.314 ethnic American Indian
HbVar.314 ethnic Caucasian
HbVar.314 ethnic African-American
HbVar.314 ethnic English
HbVar.314 ethnic Japanese
HbVar.314 phenoCommon Hemoglobin variant
HbVar.315 protEffect HBB 43(CD1) Phe>Leu
HbVar.315 commonName Hb Louisville
HbVar.315 alias Hb Bucuresti
HbVar.315 ethnic English
HbVar.315 ethnic Irish
HbVar.315 ethnic Rumanian
HbVar.315 ethnic Cuban
HbVar.315 ethnic Canadian
HbVar.315 phenoCommon Hemoglobin variant
HbVar.316 protEffect HBB 43(CD1) Phe>Val
HbVar.316 commonName Hb Sendagi
HbVar.316 alias Hb Warsaw
HbVar.316 ethnic Japanese
HbVar.316 ethnic Polish
HbVar.316 ethnic American
HbVar.316 phenoCommon Hemoglobin variant
HbVar.317 protEffect HBB 44(CD2) Glu>Ala
HbVar.317 commonName Hb G-Galveston
HbVar.317 alias Hb G-Port Arthur
HbVar.317 alias Hb G-Texas
HbVar.317 ethnic Black
HbVar.317 phenoCommon Hemoglobin variant
HbVar.318 protEffect HBB 44(CD2) Glu>Gln
HbVar.318 commonName Hb Hoshida
HbVar.318 alias Hb Chaya
HbVar.318 ethnic Japanese
HbVar.318 ethnic Yugoslavian
HbVar.318 phenoCommon Hemoglobin variant
HbVar.319 protEffect HBB 45(CD3) Ser>Cys
HbVar.319 commonName Hb Mississippi
HbVar.319 ethnic Chinese
HbVar.319 phenoCommon Hemoglobin variant
HbVar.320 protEffect HBB 46(CD4) Phe>Ser
HbVar.320 commonName Hb Cheverly
HbVar.320 ethnic Italian
HbVar.320 ethnic Caucasian
HbVar.320 phenoCommon Hemoglobin variant
HbVar.321 protEffect HBB 46(CD4) Phe>Cys
HbVar.321 commonName Hb Arta
HbVar.321 ethnic Greek
HbVar.321 phenoCommon Hemoglobin variant
HbVar.322 protEffect HBB 47(CD5) Gly>Glu
HbVar.322 commonName Hb K-Ibadan
HbVar.322 ethnic African Yoruba
HbVar.322 ethnic Italian
HbVar.322 phenoCommon Hemoglobin variant
HbVar.323 protEffect HBB 47(CD5) Gly>Arg
HbVar.323 commonName Hb Gainesville-GA
HbVar.323 ethnic Black
HbVar.323 phenoCommon Hemoglobin variant
HbVar.324 protEffect HBB 48(CD6) Asp>Asn
HbVar.324 commonName Hb G-Copenhagen
HbVar.324 ethnic Danish
HbVar.324 ethnic Sicilian
HbVar.324 ethnic Black
HbVar.324 ethnic American
HbVar.324 phenoCommon Hemoglobin variant
HbVar.325 protEffect HBB 48(CD6) Asp>Gly
HbVar.325 commonName Hb Gavello
HbVar.325 ethnic Italian
HbVar.325 phenoCommon Hemoglobin variant
HbVar.326 protEffect HBB 48(CD6) Asp>Ala
HbVar.326 commonName Hb Avicenna
HbVar.326 ethnic Iranian
HbVar.326 phenoCommon Hemoglobin variant
HbVar.327 protEffect HBB 48(CD6) Asp>Tyr
HbVar.327 commonName Hb Maputo
HbVar.327 ethnic Mozambique
HbVar.327 ethnic Caucasian
HbVar.327 phenoCommon Hemoglobin variant
HbVar.328 protEffect HBB 49(CD7) Leu>Arg
HbVar.328 commonName Hb Okaloosa
HbVar.328 ethnic Caucasian
HbVar.328 phenoCommon Hemoglobin variant
HbVar.329 protEffect HBB 49(CD7) Leu>Pro
HbVar.329 commonName Hb Bab-Saadoun
HbVar.329 ethnic Tunisian
HbVar.329 phenoCommon Hemoglobin variant
HbVar.330 protEffect HBB 50(CD8) Ser>Phe
HbVar.330 commonName Hb Las Palmas
HbVar.330 ethnic Canary Islands
HbVar.330 phenoCommon Hemoglobin variant
HbVar.331 protEffect HBB 51(D1) Thr>Lys
HbVar.331 commonName Hb Edmonton
HbVar.331 ethnic Ukrainian
HbVar.331 phenoCommon Hemoglobin variant
HbVar.332 protEffect HBB 52(D2) Pro>Arg
HbVar.332 commonName Hb Willamette
HbVar.332 ethnic Black
HbVar.332 phenoCommon Hemoglobin variant
HbVar.333 protEffect HBB 52(D2) Pro>His
HbVar.333 commonName Hb North Manchester
HbVar.333 phenoCommon Hemoglobin variant
HbVar.334 protEffect HBB 53(D3) Asp>Asn
HbVar.334 commonName Hb Osu Christiansborg
HbVar.334 ethnic Black
HbVar.334 ethnic Ghanaian
HbVar.334 ethnic Greek
HbVar.334 ethnic Iranian
HbVar.334 phenoCommon Hemoglobin variant
HbVar.335 protEffect HBB 53(D3) Asp>Ala
HbVar.335 commonName Hb Ocho Rios
HbVar.335 ethnic Jamaican
HbVar.335 phenoCommon Hemoglobin variant
HbVar.336 protEffect HBB 53(D3) Asp>His
HbVar.336 commonName Hb Summer Hill
HbVar.336 ethnic Lebanese
HbVar.336 ethnic Turkish
HbVar.336 phenoCommon Hemoglobin variant
HbVar.337 protEffect HBB 53(D3) Asp>Gly
HbVar.337 commonName Hb Hokusetsu
HbVar.337 alias Hb Kurashiki-II
HbVar.337 ethnic Japanese
HbVar.337 ethnic German
HbVar.337 phenoCommon Hemoglobin variant
HbVar.338 protEffect HBB 53(D3) Asp>Val
HbVar.338 commonName Hb Akron
HbVar.338 ethnic American Indian
HbVar.338 ethnic French
HbVar.338 ethnic Polish
HbVar.338 phenoCommon Hemoglobin variant
HbVar.339 protEffect HBB 54(D4) Ala>Thr
HbVar.339 commonName Hb Acharnes
HbVar.339 ethnic Greek
HbVar.339 phenoCommon Hemoglobin variant
HbVar.340 protEffect HBB 55(D5) Val>Asp
HbVar.340 commonName Hb Jacksonville
HbVar.340 ethnic Black
HbVar.340 phenoCommon Hemoglobin variant
HbVar.341 protEffect HBB 56(D6) Met>Lys
HbVar.341 commonName Hb Matera
HbVar.341 ethnic Italian
HbVar.341 phenoCommon Hemoglobin variant
HbVar.342 protEffect HBB 57(D7) Gly>Asp
HbVar.342 commonName Hb J-Bangkok
HbVar.342 alias Hb J-Manado
HbVar.342 alias Hb J-Meinung
HbVar.342 alias Hb J-Korat
HbVar.342 ethnic Black
HbVar.342 ethnic Chinese
HbVar.342 ethnic Indonesian
HbVar.342 ethnic Thai
HbVar.342 phenoCommon Hemoglobin variant
HbVar.343 protEffect HBB 57(D7) Gly>Arg
HbVar.343 commonName Hb Hamadan
HbVar.343 ethnic Japanese
HbVar.343 ethnic Iranian
HbVar.343 ethnic French Caucasian
HbVar.343 ethnic Turkish
HbVar.343 phenoCommon Hemoglobin variant
HbVar.344 protEffect HBB 58(E1) Asn>Lys
HbVar.344 commonName Hb G-Ferrara
HbVar.344 ethnic Italian
HbVar.344 phenoCommon Hemoglobin variant
HbVar.345 protEffect HBB 58(E1) Asn>Asp
HbVar.345 commonName Hb J-Daloa
HbVar.345 ethnic Bete tribe
HbVar.345 phenoCommon Hemoglobin variant
HbVar.346 protEffect HBB 59(E2) Pro>Arg
HbVar.346 commonName Hb Dhofar
HbVar.346 alias Hb Yukuhashi
HbVar.346 ethnic Qara tribesman
HbVar.346 phenoCommon Hemoglobin variant
HbVar.347 protEffect HBB 60(E3) Lys>Glu
HbVar.347 commonName Hb I-High Wycombe
HbVar.347 ethnic English
HbVar.347 ethnic German
HbVar.347 ethnic Japanese
HbVar.347 ethnic Scottish
HbVar.347 phenoCommon Hemoglobin variant
HbVar.348 protEffect HBB 60(E3) Lys>Thr
HbVar.348 commonName Hb J-Kaohsiung
HbVar.348 alias Hb J-Honolulu
HbVar.348 ethnic Chinese
HbVar.348 phenoCommon Hemoglobin variant
HbVar.350 protEffect HBB 61(E4) Val>Leu
HbVar.350 commonName Hb Yatsushiro
HbVar.350 ethnic Japanese
HbVar.350 phenoCommon Hemoglobin variant
HbVar.351 protEffect HBB 61(E4) Val>Ala
HbVar.351 commonName Hb Collingwood
HbVar.351 ethnic Greek
HbVar.351 phenoCommon Hemoglobin variant
HbVar.352 protEffect HBB 61(E4) Val>Glu
HbVar.352 commonName Hb Cagliari
HbVar.352 alias Codon 60 (T->A); GTG(Val)->GAG(Glu) beta+ (abnormal betaX identified by IEF after labeling)
HbVar.352 ethnic Italian
HbVar.352 phenoCommon beta+ thalassemia
HbVar.353 protEffect HBB 62(E5) Lys>Glu
HbVar.353 commonName Hb N-Seattle
HbVar.353 ethnic Black
HbVar.353 phenoCommon Hemoglobin variant
HbVar.354 protEffect HBB 62(E5) Lys>Asn
HbVar.354 commonName Hb Hikari
HbVar.354 ethnic Japanese
HbVar.354 phenoCommon Hemoglobin variant
HbVar.355 protEffect HBB 62(E5) Lys>Met
HbVar.355 commonName Hb Bologna
HbVar.355 ethnic North Italian
HbVar.355 phenoCommon Hemoglobin variant
HbVar.356 protEffect HBB 63(E6) Ala>Pro
HbVar.356 commonName Hb Duarte
HbVar.356 ethnic German
HbVar.356 phenoCommon Hemoglobin variant
HbVar.357 protEffect HBB 63(E6) Ala>Asp
HbVar.357 commonName Hb J-Europa
HbVar.357 ethnic Italian
HbVar.357 phenoCommon Hemoglobin variant
HbVar.358 protEffect HBB 64(E7) His>Arg
HbVar.358 commonName Hb Zurich
HbVar.358 ethnic Swiss
HbVar.358 ethnic American
HbVar.358 ethnic Japanese
HbVar.358 phenoCommon Hemoglobin variant
HbVar.359 protEffect HBB 64(E7) His>Tyr
HbVar.359 commonName Hb M-Saskatoon
HbVar.359 alias Hb M-Emory
HbVar.359 alias Hb M-Kurume
HbVar.359 alias Hb M-Radom
HbVar.359 alias Hb M-Arhus
HbVar.359 alias Hb Leipzig
HbVar.359 alias Hb Horlein-Weber
HbVar.359 alias Hb Novi Sad
HbVar.359 alias Hb M-Erlangen
HbVar.359 alias Hb M-Hamburg
HbVar.359 alias Hb M-Hida
HbVar.359 alias Hb M-Chicago
HbVar.359 ethnic American
HbVar.359 ethnic Japanese
HbVar.359 ethnic English
HbVar.359 ethnic Danish
HbVar.359 ethnic Norwegian
HbVar.359 ethnic Yugoslavian
HbVar.359 ethnic Canadian
HbVar.359 ethnic Polish
HbVar.359 ethnic German
HbVar.359 phenoCommon Hemoglobin variant
HbVar.360 protEffect HBB 64(E7) His>Pro
HbVar.360 commonName Hb Bicetre
HbVar.360 ethnic American
HbVar.360 ethnic French
HbVar.360 phenoCommon Hemoglobin variant
HbVar.361 protEffect HBB 64(E7) His>Asn
HbVar.361 commonName Hb Hana
HbVar.361 ethnic Czech
HbVar.361 phenoCommon Hemoglobin variant
HbVar.362 protEffect HBB 65(E8) Gly>Asp
HbVar.362 commonName Hb J-Calabria
HbVar.362 alias Hb J-Bari
HbVar.362 alias Hb J-Cosenza
HbVar.362 ethnic French
HbVar.362 ethnic Chinese
HbVar.362 phenoCommon Hemoglobin variant
HbVar.363 protEffect HBB 66(E9) Lys>Asn
HbVar.363 commonName Hb J-Sicilia
HbVar.363 ethnic Sicilian
HbVar.363 phenoCommon Hemoglobin variant
HbVar.364 protEffect HBB 66(E9) Lys>Gln
HbVar.364 commonName Hb J-Cairo
HbVar.364 ethnic Egyptian
HbVar.364 phenoCommon Hemoglobin variant
HbVar.365 protEffect HBB 66(E9) Lys>Met
HbVar.365 commonName Hb J-Antakya
HbVar.365 ethnic Southern Turkish
HbVar.365 phenoCommon Hemoglobin variant
HbVar.366 protEffect HBB 67(E10) Lys>Glu
HbVar.366 commonName Hb I-Toulouse
HbVar.366 ethnic French
HbVar.366 ethnic Nicaraguan
HbVar.366 phenoCommon Hemoglobin variant
HbVar.367 protEffect HBB 67(E10) Lys>Thr
HbVar.367 commonName Hb Chico
HbVar.367 ethnic American
HbVar.367 phenoCommon Hemoglobin variant
HbVar.368 protEffect HBB 68(E11) Val>Glu
HbVar.368 commonName Hb M-Milwaukee-I
HbVar.368 phenoCommon Hemoglobin variant
HbVar.369 protEffect HBB 68(E11) Val>Met OR HBB 68(E11) Val>Asp
HbVar.369 commonName Hb Bristol
HbVar.369 alias Hb Bristol-Alesha
HbVar.369 ethnic English
HbVar.369 phenoCommon Hemoglobin variant
HbVar.370 protEffect HBB 68(E11) Val>Met
HbVar.370 commonName Hb Alesha
HbVar.370 alias Hb Bristol-Alesha
HbVar.370 ethnic Russian
HbVar.370 phenoCommon Hemoglobin variant
HbVar.371 protEffect HBB 68(E11) Val>Ala
HbVar.371 commonName Hb Sydney
HbVar.371 ethnic German
HbVar.371 ethnic English
HbVar.371 phenoCommon Hemoglobin variant
HbVar.372 protEffect HBB 68(E11) Val>Gly
HbVar.372 commonName Hb Manukau
HbVar.372 ethnic Niuean
HbVar.372 ethnic Maori
HbVar.372 phenoCommon Hemoglobin variant
HbVar.373 protEffect HBB 69(E12) Leu>Pro
HbVar.373 commonName Hb Mizuho
HbVar.373 ethnic Japanese
HbVar.373 ethnic Italian
HbVar.373 ethnic Caucasian
HbVar.373 ethnic Dutch
HbVar.373 phenoCommon Hemoglobin variant
HbVar.374 protEffect HBB 69(E12) Leu>His
HbVar.374 commonName Hb Brisbane
HbVar.374 alias Hb Great Lakes
HbVar.374 ethnic New Zealand
HbVar.374 ethnic Caucasian
HbVar.374 phenoCommon Hemoglobin variant
HbVar.375 protEffect HBB 69(E12) Leu>Phe
HbVar.375 commonName Hb Loves Park
HbVar.375 ethnic Italian
HbVar.375 phenoCommon Hemoglobin variant
HbVar.376 protEffect HBB 70(E13) Gly>Asp
HbVar.376 commonName Hb Rambam
HbVar.376 alias Hb J-Cambridge
HbVar.376 ethnic Argentine
HbVar.376 ethnic Bedouin
HbVar.376 ethnic English
HbVar.376 ethnic German
HbVar.376 phenoCommon Hemoglobin variant
HbVar.377 protEffect HBB 70(E13) Gly>Ser
HbVar.377 commonName Hb City of Hope
HbVar.377 ethnic Caucasian
HbVar.377 ethnic Italian
HbVar.377 ethnic Turkish
HbVar.377 ethnic Jewish
HbVar.377 phenoCommon Hemoglobin variant
HbVar.378 protEffect HBB 70(E13) Gly>Arg
HbVar.378 commonName Hb Kenitra
HbVar.378 ethnic Moroccan
HbVar.378 phenoCommon Hemoglobin variant
HbVar.379 protEffect HBB 71(E14) Ala>Asp
HbVar.379 commonName Hb Seattle
HbVar.379 ethnic Caucasian
HbVar.379 ethnic Ukrainian
HbVar.379 phenoCommon Hemoglobin variant
HbVar.380 protEffect HBB 72(E15) Phe>Ser
HbVar.380 commonName Hb Christchurch
HbVar.380 ethnic Australian
HbVar.380 ethnic Japanese
HbVar.380 phenoCommon Hemoglobin variant
HbVar.381 protEffect HBB 73(E16) Ser>Arg
HbVar.381 commonName Hb Headington
HbVar.381 ethnic Asian Indian
HbVar.381 phenoCommon Hemoglobin variant
HbVar.382 protEffect HBB 74(E17) Asp>Tyr
HbVar.382 commonName Hb Vancouver
HbVar.382 ethnic Chinese
HbVar.382 phenoCommon Hemoglobin variant
HbVar.383 protEffect HBB 74(E17) Asp>Asn
HbVar.383 commonName Hb G-Accra
HbVar.383 alias Hb Korle-Bu
HbVar.383 ethnic Black
HbVar.383 phenoCommon Hemoglobin variant
HbVar.384 protEffect HBB 74(E17) Asp>Val
HbVar.384 commonName Hb Mobile
HbVar.384 ethnic Black
HbVar.384 phenoCommon Hemoglobin variant
HbVar.385 protEffect HBB 74(E17) Asp>Gly
HbVar.385 commonName Hb Tilburg
HbVar.385 ethnic Dutch
HbVar.385 phenoCommon Hemoglobin variant
HbVar.386 protEffect HBB 75(E18) Gly>Val
HbVar.386 commonName Hb Bushwick
HbVar.386 ethnic Italian
HbVar.386 ethnic American
HbVar.386 ethnic Japanese
HbVar.386 ethnic Yugoslavian
HbVar.386 ethnic Pakistani
HbVar.386 phenoCommon Hemoglobin variant
HbVar.386 phenoCommon severe Anemia
HbVar.386 phenoCommon chronic Anemia
HbVar.386 phenoCommon hemolytic Anemia
HbVar.387 protEffect HBB 75(E18) Gly>Asp
HbVar.387 commonName Hb Shepherds Bush
HbVar.387 ethnic English
HbVar.387 ethnic Sicilian
HbVar.387 phenoCommon Hemoglobin variant
HbVar.388 protEffect HBB 75(E18) Gly>Arg
HbVar.388 commonName Hb Aalborg
HbVar.388 phenoCommon Hemoglobin variant
HbVar.389 protEffect HBB 76(E19) Leu>Pro
HbVar.389 commonName Hb Atlanta
HbVar.389 ethnic Caucasian
HbVar.389 ethnic New Zealand
HbVar.389 ethnic Dutch
HbVar.389 phenoCommon Hemoglobin variant
HbVar.390 protEffect HBB 76(E19) Leu>Arg
HbVar.390 commonName Hb Pasadena
HbVar.390 ethnic French
HbVar.390 phenoCommon Hemoglobin variant
HbVar.391 protEffect HBB 77(E20) Ala>Asp
HbVar.391 commonName Hb J-Chicago
HbVar.391 ethnic Black
HbVar.391 ethnic Spanish
HbVar.391 phenoCommon Hemoglobin variant
HbVar.392 protEffect HBB 77(E20) Ala>Pro
HbVar.392 commonName Hb Calais
HbVar.392 ethnic French
HbVar.392 phenoCommon Hemoglobin variant
HbVar.393 protEffect HBB 78(EF1) His>Asp
HbVar.393 commonName Hb J-Iran
HbVar.393 ethnic Iranian
HbVar.393 ethnic Turkish
HbVar.393 phenoCommon Hemoglobin variant
HbVar.394 protEffect HBB 78(EF1) His>Tyr
HbVar.394 commonName Hb Fukuyama
HbVar.394 ethnic Japanese
HbVar.394 ethnic Caucasian
HbVar.394 ethnic Indonesian
HbVar.394 ethnic Swedish
HbVar.394 phenoCommon Hemoglobin variant
HbVar.395 protEffect HBB 78(EF1) His>Arg
HbVar.395 commonName Hb Costa Rica
HbVar.395 ethnic Costa Rican
HbVar.395 phenoCommon Hemoglobin variant
HbVar.396 protEffect HBB 78(EF1) His>Gln
HbVar.396 commonName Hb Vienna
HbVar.396 ethnic Austrian
HbVar.396 phenoCommon Hemoglobin variant
HbVar.397 protEffect HBB 79(EF2) Leu>Arg
HbVar.397 commonName Hb Quin-Hai
HbVar.397 ethnic Chinese
HbVar.397 phenoCommon Hemoglobin variant
HbVar.398 protEffect HBB 80(EF3) Asp>Gly
HbVar.398 commonName Hb G-Hsi-Tsou
HbVar.398 ethnic Chinese
HbVar.398 ethnic Greek
HbVar.398 phenoCommon Hemoglobin variant
HbVar.399 protEffect HBB 80(EF3) Asp>Tyr
HbVar.399 commonName Hb Tampa
HbVar.399 ethnic Caucasian
HbVar.399 phenoCommon Hemoglobin variant
HbVar.399 phenoCommon Normal
HbVar.400 protEffect HBB 80(EF3) Asp>His
HbVar.400 commonName Hb Tigraye
HbVar.400 ethnic Sardinian
HbVar.400 ethnic Ethiopian
HbVar.400 phenoCommon Hemoglobin variant
HbVar.401 protEffect HBB 80(EF3) Asp>Asn
HbVar.401 commonName Hb Yaizu
HbVar.401 ethnic Japanese
HbVar.401 phenoCommon Hemoglobin variant
HbVar.402 protEffect HBB 81(EF4) Asn>Lys
HbVar.402 commonName Hb G-Szuhu
HbVar.402 alias Hb Gifu
HbVar.402 ethnic Chinese
HbVar.402 ethnic Japanese
HbVar.402 ethnic Jewish
HbVar.402 ethnic English
HbVar.402 ethnic Spanish
HbVar.402 ethnic Sicilian
HbVar.402 phenoCommon Hemoglobin variant
HbVar.403 protEffect HBB 82(EF5) Leu>Arg
HbVar.403 commonName Hb Baylor
HbVar.403 ethnic Italian
HbVar.403 ethnic Irish
HbVar.403 phenoCommon Hemoglobin variant
HbVar.404 protEffect HBB 82(EF5) Leu>His
HbVar.404 commonName Hb La Roche-sur-Yon
HbVar.404 ethnic Portuguese
HbVar.404 phenoCommon Hemoglobin variant
HbVar.405 protEffect HBB 83(EF6) Lys>Asn
HbVar.405 commonName Hb Providence
HbVar.405 ethnic Black
HbVar.405 ethnic Japanese
HbVar.405 phenoCommon Hemoglobin variant
HbVar.406 protEffect HBB 83(EF6) Lys>Thr
HbVar.406 commonName Hb Rahere
HbVar.406 ethnic English
HbVar.406 ethnic Japanese
HbVar.406 phenoCommon Hemoglobin variant
HbVar.407 protEffect HBB 83(EF6) Lys>Met
HbVar.407 commonName Hb Helsinki
HbVar.407 ethnic Finnish
HbVar.407 phenoCommon Hemoglobin variant
HbVar.408 protEffect HBB 83(EF6) Lys>Gln
HbVar.408 commonName Hb Tsurumai
HbVar.408 ethnic Japanese
HbVar.408 phenoCommon Hemoglobin variant
HbVar.409 protEffect HBB 83(EF6) Lys>Glu
HbVar.409 commonName Hb Gambara
HbVar.409 ethnic Italian
HbVar.409 phenoCommon Hemoglobin variant
HbVar.410 protEffect HBB 84(EF7) Gly>Cys
HbVar.410 commonName Hb Ta-Li
HbVar.410 ethnic Chinese
HbVar.410 phenoCommon Hemoglobin variant
HbVar.411 protEffect HBB 84(EF7) Gly>Asp
HbVar.411 commonName Hb Pyrgos
HbVar.411 alias Hb Mizunami
HbVar.411 ethnic African
HbVar.411 ethnic Greek
HbVar.411 ethnic Italian
HbVar.411 ethnic Japanese
HbVar.411 ethnic Thai
HbVar.411 phenoCommon Hemoglobin variant
HbVar.412 protEffect HBB 84(EF7) Gly>Arg
HbVar.412 commonName Hb Muskegon
HbVar.412 ethnic American
HbVar.412 phenoCommon Hemoglobin variant
HbVar.413 protEffect HBB 85(EF8) Thr>Ile
HbVar.413 commonName Hb Kofu
HbVar.413 ethnic Japanese
HbVar.413 phenoCommon Hemoglobin variant
HbVar.414 protEffect HBB 86(F1) Phe>Ser
HbVar.414 commonName Hb Buenos Aires
HbVar.414 alias Hb Bryn Mawr
HbVar.414 ethnic Argentine
HbVar.414 ethnic Japanese
HbVar.414 ethnic Caucasian
HbVar.414 phenoCommon Hemoglobin variant
HbVar.415 protEffect HBB 87(F2) Ala>Asp
HbVar.415 commonName Hb Olomouc
HbVar.415 ethnic Czech
HbVar.415 ethnic Japanese
HbVar.415 ethnic American
HbVar.415 phenoCommon Hemoglobin variant
HbVar.416 protEffect HBB 88(F3) Thr>Lys
HbVar.416 commonName Hb D-Ibadan
HbVar.416 ethnic Nigerian
HbVar.416 ethnic Black
HbVar.416 phenoCommon Hemoglobin variant
HbVar.417 protEffect HBB 88(F3) Thr>Pro
HbVar.417 commonName Hb Valletta
HbVar.417 ethnic Italian
HbVar.417 ethnic Maltese
HbVar.417 phenoCommon Hemoglobin variant
HbVar.418 protEffect HBB 88(F3) Thr>Ile
HbVar.418 commonName Hb Quebec-Chori
HbVar.418 ethnic English
HbVar.418 ethnic French
HbVar.418 ethnic Canadian
HbVar.418 ethnic Irish
HbVar.418 ethnic Ghanaian
HbVar.418 phenoCommon Hemoglobin variant
HbVar.419 protEffect HBB 89(F4) Leu>Arg
HbVar.419 commonName Hb Boras
HbVar.419 ethnic Swedish
HbVar.419 ethnic South African
HbVar.419 phenoCommon Hemoglobin variant
HbVar.420 protEffect HBB 89(F4) Leu>Pro
HbVar.420 commonName Hb Santa Ana
HbVar.420 ethnic Caucasian
HbVar.420 ethnic Hungarian
HbVar.420 ethnic French
HbVar.420 ethnic Japanese
HbVar.420 ethnic American
HbVar.420 phenoCommon Hemoglobin variant
HbVar.421 protEffect HBB 90(F5) Ser>Asn
HbVar.421 commonName Hb Creteil
HbVar.421 ethnic French
HbVar.421 phenoCommon Hemoglobin variant
HbVar.422 protEffect HBB 90(F5) Ser>Arg
HbVar.422 commonName Hb Vanderbilt
HbVar.422 ethnic Caucasian
HbVar.422 phenoCommon Hemoglobin variant
HbVar.423 protEffect HBB 90(F5) Ser>Thr
HbVar.423 commonName Hb Villaverde
HbVar.423 ethnic Spanish
HbVar.423 phenoCommon Hemoglobin variant
HbVar.424 protEffect HBB 91(F6) Glu>Lys
HbVar.424 commonName Hb Agenogi
HbVar.424 ethnic African-American
HbVar.424 ethnic Hungarian
HbVar.424 ethnic Italian
HbVar.424 ethnic Japanese
HbVar.424 phenoCommon Hemoglobin variant
HbVar.425 protEffect HBB 91(F6) Glu>Gly
HbVar.425 commonName Hb Roseau-Pointe a Pitre
HbVar.425 ethnic Dominican
HbVar.425 phenoCommon Hemoglobin variant
HbVar.426 protEffect HBB 91(F6) Glu>Asp
HbVar.426 commonName Hb Pierre-Benite
HbVar.426 ethnic Caucasian
HbVar.426 phenoCommon Hemoglobin variant
HbVar.427 protEffect HBB 92(F7) Leu>Pro
HbVar.427 commonName Hb Sabine
HbVar.427 ethnic Scottish
HbVar.427 ethnic English
HbVar.427 ethnic German
HbVar.427 ethnic Yugoslavian
HbVar.427 phenoCommon Hemoglobin variant
HbVar.428 protEffect HBB 92(F7) Leu>Arg
HbVar.428 commonName Hb Caribbean
HbVar.428 ethnic Jamaican
HbVar.428 ethnic Canadian
HbVar.428 phenoCommon Hemoglobin variant
HbVar.429 protEffect HBB 93(F8) His>Arg
HbVar.429 commonName Hb Mozhaisk
HbVar.429 ethnic Russian
HbVar.429 phenoCommon Hemoglobin variant
HbVar.430 protEffect HBB 93(F8) His>Tyr
HbVar.430 commonName Hb M-Milwaukee-2
HbVar.430 alias Hb M-Hyde Park
HbVar.430 alias Hb M-Akita
HbVar.430 ethnic Swiss
HbVar.430 ethnic Black
HbVar.430 ethnic Japanese
HbVar.430 ethnic Yugoslavian
HbVar.430 ethnic Norwegian
HbVar.430 ethnic German
HbVar.430 phenoCommon Hemoglobin variant
HbVar.431 protEffect HBB 93(F8) His>Pro
HbVar.431 commonName Hb Newcastle
HbVar.431 ethnic English
HbVar.431 ethnic Russian
HbVar.431 phenoCommon Hemoglobin variant
HbVar.432 protEffect HBB 93(F8) His>Gln
HbVar.432 commonName Hb Saint Etienne
HbVar.432 alias Hb Istanbul
HbVar.432 ethnic Argentine
HbVar.432 ethnic French
HbVar.432 ethnic Turkish
HbVar.432 phenoCommon Hemoglobin variant
HbVar.433 protEffect HBB 93(F8) His>Asp
HbVar.433 commonName Hb J-Altgeld Gardens
HbVar.433 ethnic Black
HbVar.433 phenoCommon Hemoglobin variant
HbVar.434 protEffect HBB 93(F8) His>Asn
HbVar.434 commonName Hb Redondo
HbVar.434 alias Hb Isehara
HbVar.434 ethnic Japanese
HbVar.434 ethnic Portuguese
HbVar.434 phenoCommon Hemoglobin variant
HbVar.435 protEffect HBB 94(F9) Cys>Arg
HbVar.435 commonName Hb Okazaki
HbVar.435 ethnic Japanese
HbVar.435 phenoCommon Hemoglobin variant
HbVar.436 protEffect HBB 95(FG1) Asp>His
HbVar.436 commonName Hb Barcelona
HbVar.436 ethnic Spanish
HbVar.436 phenoCommon Hemoglobin variant
HbVar.437 protEffect HBB 95(FG1) Asp>Asn
HbVar.437 commonName Hb Bunbury
HbVar.437 ethnic Italian
HbVar.437 ethnic Caucasian
HbVar.437 ethnic Mexican
HbVar.437 ethnic American
HbVar.437 phenoCommon Hemoglobin variant
HbVar.438 protEffect HBB 95(FG1) Asp>Gly
HbVar.438 commonName Hb Chandigarh
HbVar.438 ethnic Indian
HbVar.438 phenoCommon Hemoglobin variant
HbVar.439 protEffect HBB 96(FG2) Lys>Glu
HbVar.439 commonName Hb N-Baltimore
HbVar.439 alias Hb Hopkins-I
HbVar.439 alias Hb Jenkins
HbVar.439 alias Hb N-Memphis
HbVar.439 alias Hb Kenwood
HbVar.439 ethnic Black
HbVar.439 phenoCommon Hemoglobin variant
HbVar.440 protEffect HBB 96(FG2) Lys>Met
HbVar.440 commonName Hb J-Cordoba
HbVar.440 ethnic Argentine
HbVar.440 phenoCommon Hemoglobin variant
HbVar.441 protEffect HBB 96(FG2) Lys>Asn
HbVar.441 commonName Hb Detroit
HbVar.441 ethnic Indian
HbVar.441 phenoCommon Hemoglobin variant
HbVar.442 protEffect HBB 97(FG3) Leu>Val
HbVar.442 commonName Hb Regina
HbVar.442 ethnic Scandinavian
HbVar.442 phenoCommon Hemoglobin variant
HbVar.443 protEffect HBB 97(FG3) Leu>Pro
HbVar.443 commonName Hb Debrousse
HbVar.443 ethnic Italian
HbVar.443 ethnic French
HbVar.443 phenoCommon Hemoglobin variant
HbVar.444 protEffect HBB 98(FG4) His>Gln
HbVar.444 commonName Hb Malmo
HbVar.444 ethnic Swedish
HbVar.444 ethnic Dutch
HbVar.444 ethnic German
HbVar.444 ethnic English
HbVar.444 ethnic American
HbVar.444 phenoCommon Hemoglobin variant
HbVar.445 protEffect HBB 98(FG4) His>Leu
HbVar.445 commonName Hb Wood
HbVar.445 ethnic Swedish
HbVar.445 ethnic Norwegian
HbVar.445 phenoCommon Hemoglobin variant
HbVar.446 protEffect HBB 98(FG4) His>Pro
HbVar.446 commonName Hb Nagoya
HbVar.446 ethnic Japanese
HbVar.446 phenoCommon Hemoglobin variant
HbVar.447 protEffect HBB 98(FG4) His>Tyr
HbVar.447 commonName Hb Moriguchi
HbVar.447 ethnic Japanese
HbVar.447 phenoCommon Hemoglobin variant
HbVar.448 protEffect HBB 99(FG5) Val>Met
HbVar.448 commonName Hb Koln
HbVar.448 alias Hb San Francisco (Pacific)
HbVar.448 alias Hb Ube-1
HbVar.448 phenoCommon Hemoglobin variant
HbVar.449 protEffect HBB 99(FG5) Val>Gly
HbVar.449 commonName Hb Nottingham
HbVar.449 ethnic English
HbVar.449 ethnic Caucasian
HbVar.449 ethnic Canadian
HbVar.449 ethnic Japanese
HbVar.449 phenoCommon Hemoglobin variant
HbVar.450 protEffect HBB 99(FG5) Val>Ala
HbVar.450 commonName Hb Djelfa
HbVar.450 ethnic Caucasian
HbVar.450 phenoCommon Hemoglobin variant
HbVar.451 protEffect HBB 99(FG5) Val>Glu
HbVar.451 commonName Hb Mainz
HbVar.451 ethnic German
HbVar.451 phenoCommon Hemoglobin variant
HbVar.452 protEffect HBB 100(G1) Asp>Asn
HbVar.452 commonName Hb Kempsey
HbVar.452 ethnic Irish
HbVar.452 ethnic French
HbVar.452 ethnic Black
HbVar.452 phenoCommon Hemoglobin variant
HbVar.453 protEffect HBB 100(G1) Asp>His
HbVar.453 commonName Hb Yakima
HbVar.453 ethnic Caucasian
HbVar.453 phenoCommon Hemoglobin variant
HbVar.454 protEffect HBB 100(G1) Asp>Ala
HbVar.454 commonName Hb Radcliffe
HbVar.454 ethnic English
HbVar.454 phenoCommon Hemoglobin variant
HbVar.455 protEffect HBB 100(G1) Asp>Tyr
HbVar.455 commonName Hb Ypsilanti (or Hb Ypsi)
HbVar.455 ethnic Black
HbVar.455 phenoCommon Hemoglobin variant
HbVar.456 protEffect HBB 100(G1) Asp>Gly
HbVar.456 commonName Hb Hotel-Dieu
HbVar.456 ethnic Puerto Rican
HbVar.456 ethnic French Caucasian
HbVar.456 phenoCommon Hemoglobin variant
HbVar.457 protEffect HBB 100(G1) Asp>Val
HbVar.457 commonName Hb Chemilly
HbVar.457 ethnic French Caucasian
HbVar.457 phenoCommon Hemoglobin variant
HbVar.458 protEffect HBB 100(G1) Asp>Glu
HbVar.458 commonName Hb Coimbra
HbVar.458 alias Hb Ingelheim
HbVar.458 ethnic German
HbVar.458 ethnic American
HbVar.458 ethnic Portuguese
HbVar.458 phenoCommon Hemoglobin variant
HbVar.459 protEffect HBB 101(G2) Pro>Leu
HbVar.459 commonName Hb Brigham
HbVar.459 phenoCommon Hemoglobin variant
HbVar.460 protEffect HBB 101(G2) Pro>Arg
HbVar.460 commonName Hb New Mexico
HbVar.460 ethnic Black
HbVar.460 phenoCommon Hemoglobin variant
HbVar.461 protEffect HBB 102(G3) Glu>Lys
HbVar.461 commonName Hb British Columbia
HbVar.461 ethnic East Indian
HbVar.461 ethnic Caucasian
HbVar.461 phenoCommon Hemoglobin variant
HbVar.462 protEffect HBB 102(G3) Glu>Gln
HbVar.462 commonName Hb Rush
HbVar.462 ethnic Black
HbVar.462 phenoCommon Hemoglobin variant
HbVar.463 protEffect HBB 102(G3) Glu>Gly
HbVar.463 commonName Hb Alberta
HbVar.463 ethnic Caucasian
HbVar.463 phenoCommon Hemoglobin variant
HbVar.464 protEffect HBB 102(G3) Glu>Asp
HbVar.464 commonName Hb Potomac
HbVar.464 ethnic Caucasian
HbVar.464 phenoCommon Hemoglobin variant
HbVar.465 protEffect HBB 103(G4) Asn>Lys
HbVar.465 commonName Hb Richmond
HbVar.465 ethnic Black
HbVar.465 phenoCommon Hemoglobin variant
HbVar.466 protEffect HBB 103(G4) Asn>Thr
HbVar.466 commonName Hb Kansas
HbVar.466 ethnic Caucasian
HbVar.466 ethnic Japanese
HbVar.466 phenoCommon Hemoglobin variant
HbVar.467 protEffect HBB 103(G4) Asn>Ser
HbVar.467 commonName Hb Beth Israel
HbVar.467 ethnic Italian
HbVar.467 ethnic Yugoslavian
HbVar.467 phenoCommon Hemoglobin variant
HbVar.468 protEffect HBB 103(G4) Asn>Tyr
HbVar.468 commonName Hb Saint Mande
HbVar.468 ethnic French
HbVar.468 phenoCommon Hemoglobin variant
HbVar.469 protEffect HBB 104(G5) Phe>Leu
HbVar.469 commonName Hb Heathrow
HbVar.469 ethnic English
HbVar.469 ethnic Australian
HbVar.469 phenoCommon Hemoglobin variant
HbVar.470 protEffect HBB 104(G5) Phe>Ile
HbVar.470 commonName Hb Saint Nazaire
HbVar.470 ethnic French
HbVar.470 phenoCommon Hemoglobin variant
HbVar.471 protEffect HBB 105(G6) Arg>Ser
HbVar.471 commonName Hb Camperdown
HbVar.471 ethnic Maltese
HbVar.471 phenoCommon Hemoglobin variant
HbVar.472 protEffect HBB 105(G6) Arg>Thr
HbVar.472 commonName Hb Sherwood Forest
HbVar.472 ethnic Kashmiri Muslim
HbVar.472 phenoCommon Hemoglobin variant
HbVar.473 protEffect HBB 105(G6) Arg>Lys
HbVar.473 commonName Hb Alzette
HbVar.473 ethnic Luxembourg
HbVar.473 phenoCommon Hemoglobin variant
HbVar.474 protEffect HBB 106(G7) Leu>Phe
HbVar.474 commonName Hb South Milwaukee
HbVar.474 ethnic English
HbVar.474 phenoCommon Hemoglobin variant
HbVar.475 protEffect HBB 107(G8) Leu>Pro
HbVar.475 commonName Hb Southampton
HbVar.475 alias Hb Casper
HbVar.475 ethnic Argentine
HbVar.475 ethnic Caucasian
HbVar.475 ethnic English
HbVar.475 phenoCommon Hemoglobin variant
HbVar.476 protEffect HBB 107(G8) Leu>Gln
HbVar.476 commonName Hb Tubingen
HbVar.476 ethnic German
HbVar.476 ethnic Belgian
HbVar.476 phenoCommon Hemoglobin variant
HbVar.477 protEffect HBB 107(G8) Leu>Arg
HbVar.477 commonName Hb Terre Haute
HbVar.477 phenoCommon Hemoglobin variant
HbVar.478 protEffect HBB 108(G9) Gly>Arg
HbVar.478 commonName Hb Burke
HbVar.478 ethnic Caucasian
HbVar.478 ethnic Japanese
HbVar.478 phenoCommon Hemoglobin variant
HbVar.479 protEffect HBB 108(G9) Gly>Asp
HbVar.479 commonName Hb Lulu Island
HbVar.479 ethnic East Indian
HbVar.479 phenoCommon Hemoglobin variant
HbVar.480 protEffect HBB 109(G10) Asn>Asp
HbVar.480 commonName Hb Yoshizuka
HbVar.480 ethnic Japanese
HbVar.480 phenoCommon Hemoglobin variant
HbVar.481 protEffect HBB 109(G10) Asn>Lys
HbVar.481 commonName Hb Presbyterian
HbVar.481 ethnic American
HbVar.481 ethnic German
HbVar.481 ethnic Spanish
HbVar.481 phenoCommon Hemoglobin variant
HbVar.482 protEffect HBB 109(G10) Asn>His
HbVar.482 commonName Hb Shizuoka
HbVar.482 ethnic Japanese
HbVar.482 phenoCommon Hemoglobin variant
HbVar.483 protEffect HBB 110(G11) Val>Met
HbVar.483 commonName Hb San Diego
HbVar.483 ethnic Philippine
HbVar.483 ethnic Anglo-Saxon
HbVar.483 ethnic Japanese
HbVar.483 ethnic West Indian
HbVar.483 ethnic Caucasian
HbVar.483 phenoCommon Hemoglobin variant
HbVar.484 protEffect HBB 110(G11) Val>Leu
HbVar.484 commonName Hb Johnstown
HbVar.484 ethnic Caucasian
HbVar.484 ethnic Spanish
HbVar.484 phenoCommon Hemoglobin variant
HbVar.485 protEffect HBB 111(G12) Leu>Pro
HbVar.485 commonName Hb Showa-Yakushiji
HbVar.485 alias Codon 110 (T->C); CTG(Leu)->CCG(Pro) beta+
HbVar.485 ethnic United Arab Emirates
HbVar.485 ethnic Japanese
HbVar.485 phenoCommon beta+ thalassemia
HbVar.486 protEffect HBB 112(G13) Val>Phe
HbVar.486 commonName Hb Peterborough
HbVar.486 ethnic Italian
HbVar.486 phenoCommon Hemoglobin variant
HbVar.487 protEffect HBB 112(G13) Val>Ala
HbVar.487 commonName Hb Stanmore
HbVar.487 ethnic Japanese
HbVar.487 ethnic Italian
HbVar.487 phenoCommon Hemoglobin variant
HbVar.488 protEffect HBB 113(G14) Cys>Arg
HbVar.488 commonName Hb Indianapolis
HbVar.488 ethnic Spanish
HbVar.488 phenoCommon Hemoglobin variant
HbVar.489 protEffect HBB 113(G14) Cys>Tyr
HbVar.489 commonName Hb Yahata
HbVar.489 ethnic Japanese
HbVar.489 phenoCommon Hemoglobin variant
HbVar.490 protEffect HBB 113(G14) Cys>Trp
HbVar.490 commonName Hb Toranomon
HbVar.490 ethnic Japanese
HbVar.490 phenoCommon Hemoglobin variant
HbVar.491 protEffect HBB 114(G15) Val>Glu
HbVar.491 commonName Hb New York
HbVar.491 alias Hb Kaohsiung
HbVar.491 ethnic American
HbVar.491 ethnic Chinese
HbVar.491 phenoCommon Hemoglobin variant
HbVar.492 protEffect HBB 115(G16) Leu>Met
HbVar.492 commonName Hb Zengcheng
HbVar.492 ethnic Chinese
HbVar.492 phenoCommon Hemoglobin variant
HbVar.493 protEffect HBB 115(G16) Leu>Pro
HbVar.493 commonName Hb Durham-N.C.
HbVar.493 alias Codon 114 (T->C); CTG(Leu)->CCG(Pro) beta0
HbVar.493 alias Hb Brescia
HbVar.493 ethnic Russian
HbVar.493 ethnic Irish
HbVar.493 ethnic Italian
HbVar.493 phenoCommon Thalassemia
HbVar.494 protEffect HBB 116(G17) Ala>Pro
HbVar.494 commonName Hb Madrid
HbVar.494 ethnic Black
HbVar.494 ethnic Korean
HbVar.494 ethnic Spanish
HbVar.494 phenoCommon Hemoglobin variant
HbVar.495 protEffect HBB 116(G17) Ala>Asp
HbVar.495 commonName Hb Hradec Kralove (or Hb HK)
HbVar.495 alias Codon 115 (C->A); GCC(Ala)->GAC(Asp) beta+ (dominant beta-thal trait)
HbVar.495 ethnic Czech
HbVar.495 phenoCommon beta+ thalassemia
HbVar.496 protEffect HBB 117(G18) His>Gln
HbVar.496 commonName Hb Hafnia
HbVar.496 ethnic Danish
HbVar.496 phenoCommon Hemoglobin variant
HbVar.497 protEffect HBB 118(G19) His>Arg
HbVar.497 commonName Hb P-Galveston
HbVar.497 ethnic Black
HbVar.497 phenoCommon Hemoglobin variant
HbVar.498 protEffect HBB 118(G19) His>Pro
HbVar.498 commonName Hb Saitama
HbVar.498 ethnic Japanese
HbVar.498 phenoCommon Hemoglobin variant
HbVar.499 protEffect HBB 118(G19) His>Tyr
HbVar.499 commonName Hb Tsukumi
HbVar.499 ethnic Japanese
HbVar.499 ethnic Moroccan
HbVar.499 phenoCommon Hemoglobin variant
HbVar.500 protEffect HBB 118(G19) His>Asn
HbVar.500 commonName Hb Brent
HbVar.500 ethnic Bosnian
HbVar.500 phenoCommon Hemoglobin variant
HbVar.501 protEffect HBB 119(GH1) Phe>Tyr
HbVar.501 commonName Hb Minneapolis-Laos
HbVar.501 ethnic Laotian
HbVar.501 ethnic Cambodian
HbVar.501 phenoCommon Hemoglobin variant
HbVar.502 protEffect HBB 112(G13) Val>Leu AND HBB 120(GH2) Gly>Asp
HbVar.502 commonName Hb Fannin-Lubbock II
HbVar.502 ethnic Mexican
HbVar.502 ethnic American
HbVar.502 ethnic Spanish
HbVar.502 phenoCommon Hemoglobin variant
HbVar.503 protEffect HBB 120(GH2) Gly>Val
HbVar.503 commonName Hb Bougardirey-Mali
HbVar.503 ethnic African
HbVar.503 phenoCommon Hemoglobin variant
HbVar.504 protEffect HBB 120(GH2) Gly>Ala
HbVar.504 commonName Hb Iowa
HbVar.504 phenoCommon Hemoglobin variant
HbVar.505 protEffect HBB 121(GH3) Lys>Glu
HbVar.505 commonName Hb Hijiyama
HbVar.505 ethnic Japanese
HbVar.505 ethnic Finnish
HbVar.505 phenoCommon Hemoglobin variant
HbVar.506 protEffect HBB 121(GH3) Lys>Asn
HbVar.506 commonName Hb Riyadh
HbVar.506 alias Hb Karatsu
HbVar.506 ethnic Saudi Arabian
HbVar.506 ethnic Mexican
HbVar.506 ethnic Spanish
HbVar.506 ethnic Asian Indian
HbVar.506 ethnic Japanese
HbVar.506 phenoCommon Hemoglobin variant
HbVar.507 protEffect HBB 121(GH3) Lys>Gln
HbVar.507 commonName Hb Takamatsu
HbVar.507 ethnic Japanese
HbVar.507 phenoCommon Hemoglobin variant
HbVar.508 protEffect HBB 121(GH3) Lys>Ile
HbVar.508 commonName Hb Jianghua
HbVar.508 ethnic Chinese
HbVar.508 phenoCommon Hemoglobin variant
HbVar.509 protEffect HBB 122(GH4) Glu>Gln
HbVar.509 commonName Hb D-Los Angeles
HbVar.509 alias Hb D-Punjab
HbVar.509 alias Hb D-North Carolina
HbVar.509 alias Hb D-Portugal
HbVar.509 alias Hb Oak Ridge
HbVar.509 alias Hb D-Chicago
HbVar.509 ethnic Chinese
HbVar.509 ethnic Australian
HbVar.509 ethnic Dutch
HbVar.509 ethnic English
HbVar.509 ethnic Greek
HbVar.509 ethnic Northwestern Indian
HbVar.509 ethnic Pakistani
HbVar.509 ethnic Turkish
HbVar.509 ethnic Yugoslavian
HbVar.509 phenoCommon Hemoglobin variant
HbVar.509 phenoCommon Normal
HbVar.510 protEffect HBB 122(GH4) Glu>Lys
HbVar.510 commonName Hb O-Arab
HbVar.510 alias Hb Egypt
HbVar.510 alias Hb O-Thrace
HbVar.510 ethnic Arabian
HbVar.510 ethnic Egyptian
HbVar.510 ethnic African-American
HbVar.510 ethnic Gypsy
HbVar.510 ethnic Pomak
HbVar.510 phenoCommon Hemoglobin variant
HbVar.510 phenoCommon Microcytosis
HbVar.510 phenoCommon mild Anemia
HbVar.511 protEffect HBB 122(GH4) Glu>Gly
HbVar.511 commonName Hb St. Francis
HbVar.511 ethnic Caucasian
HbVar.511 phenoCommon Hemoglobin variant
HbVar.512 protEffect HBB 122(GH4) Glu>Val
HbVar.512 commonName Hb Beograd
HbVar.512 alias Hb D-Camperdown
HbVar.512 ethnic Yugoslavian
HbVar.512 ethnic Turkish
HbVar.512 phenoCommon Hemoglobin variant
HbVar.513 protEffect HBB 122(GH4) Glu>Ala
HbVar.513 commonName Hb D-Neath
HbVar.513 ethnic Caucasian
HbVar.513 phenoCommon Hemoglobin variant
HbVar.514 protEffect HBB 124(H1) Thr>Ile
HbVar.514 commonName Hb Villejuif
HbVar.514 ethnic French
HbVar.514 phenoCommon Hemoglobin variant
HbVar.515 protEffect HBB 125(H2) Pro>Arg
HbVar.515 commonName Hb Khartoum
HbVar.515 ethnic Khartoum
HbVar.515 phenoCommon Hemoglobin variant
HbVar.516 protEffect HBB 125(H2) Pro>Gln
HbVar.516 commonName Hb Ty Gard
HbVar.516 ethnic French
HbVar.516 phenoCommon Hemoglobin variant
HbVar.517 protEffect HBB 125(H2) Pro>Ser
HbVar.517 commonName Hb Tunis
HbVar.517 ethnic Tunisian
HbVar.517 phenoCommon Hemoglobin variant
HbVar.518 protEffect HBB 125(H2) Pro>Leu
HbVar.518 commonName Hb Tende
HbVar.518 ethnic French
HbVar.518 phenoCommon Hemoglobin variant
HbVar.519 protEffect HBB 127(H4) Val>Glu
HbVar.519 commonName Hb Hofu
HbVar.519 ethnic Japanese
HbVar.519 ethnic Indian
HbVar.519 ethnic Black
HbVar.519 ethnic Spanish
HbVar.519 phenoCommon Hemoglobin variant
HbVar.520 protEffect HBB 127(H4) Val>Ala
HbVar.520 commonName Hb Beirut
HbVar.520 ethnic Lebanese
HbVar.520 phenoCommon Hemoglobin variant
HbVar.521 protEffect HBB 127(H4) Val>Gly
HbVar.521 commonName Hb Dhonburi
HbVar.521 alias Hb Neapolis
HbVar.521 alias Codon 126 (T->G); GTG(Val)->GGG(Gly) Mild beta-thal trait
HbVar.521 ethnic Thai
HbVar.521 ethnic Italian
HbVar.521 ethnic German
HbVar.521 phenoCommon beta0 thalassemia
HbVar.522 protEffect HBB 128(H5) Gln>Glu
HbVar.522 commonName Hb Complutense
HbVar.522 ethnic Spanish
HbVar.522 phenoCommon Hemoglobin variant
HbVar.523 protEffect HBB 128(H5) Gln>Lys
HbVar.523 commonName Hb Brest
HbVar.523 ethnic French
HbVar.523 phenoCommon Hemoglobin variant
HbVar.524 protEffect HBB 128(H5) Gln>Arg
HbVar.524 commonName Hb Dieppe
HbVar.524 ethnic French
HbVar.524 phenoCommon Hemoglobin variant
HbVar.525 protEffect HBB 129(H6) Ala>Asp
HbVar.525 commonName Hb J-Guantanamo
HbVar.525 ethnic Cuban
HbVar.525 ethnic Chinese
HbVar.525 ethnic Japanese
HbVar.525 ethnic Chilean
HbVar.525 ethnic Benin
HbVar.525 phenoCommon Hemoglobin variant
HbVar.526 protEffect HBB 129(H6) Ala>Pro
HbVar.526 commonName Hb Mont Saint Aignan
HbVar.526 ethnic French Caucasian
HbVar.526 phenoCommon Hemoglobin variant
HbVar.527 protEffect HBB 129(H6) Ala>Val
HbVar.527 commonName Hb Sitia
HbVar.527 ethnic Greek
HbVar.527 phenoCommon Hemoglobin variant
HbVar.528 protEffect HBB 130(H7) Ala>Asp
HbVar.528 commonName Hb J-Taichung
HbVar.528 ethnic Chinese
HbVar.528 phenoCommon Hemoglobin variant
HbVar.529 protEffect HBB 130(H7) Ala>Asp OR HBB 130(H7) Ala>Glu
HbVar.529 commonName Hb K-Cameroon
HbVar.529 ethnic Cameroonian
HbVar.529 phenoCommon Hemoglobin variant
HbVar.530 protEffect HBB 130(H7) Ala>Pro
HbVar.530 commonName Hb Crete
HbVar.530 ethnic Greek
HbVar.530 phenoCommon Hemoglobin variant
HbVar.531 protEffect HBB 130(H7) Ala>Val
HbVar.531 commonName Hb La Desirade
HbVar.531 ethnic Black
HbVar.531 phenoCommon Hemoglobin variant
HbVar.532 protEffect HBB 131(H8) Tyr>Asp
HbVar.532 commonName Hb Wien
HbVar.532 ethnic Australian
HbVar.532 ethnic German
HbVar.532 phenoCommon Hemoglobin variant
HbVar.533 protEffect HBB 131(H8) Tyr>Ser
HbVar.533 commonName Hb Nevers
HbVar.533 ethnic French Caucasian
HbVar.533 phenoCommon Hemoglobin variant
HbVar.534 protEffect HBB 131(H8) Tyr>Cys
HbVar.534 commonName Hb Montfermeil
HbVar.534 ethnic Portuguese
HbVar.534 ethnic Hungarian
HbVar.534 ethnic Gypsy
HbVar.534 phenoCommon Hemoglobin variant
HbVar.535 protEffect HBB 132(H9) Gln>Glu
HbVar.535 commonName Hb Camden
HbVar.535 alias Hb Tokuchi
HbVar.535 alias Hb Motown
HbVar.535 ethnic Black
HbVar.535 ethnic Japanese
HbVar.535 phenoCommon Hemoglobin variant
HbVar.536 protEffect HBB 132(H9) Gln>Lys
HbVar.536 commonName Hb Shelby
HbVar.536 ethnic Black
HbVar.536 phenoCommon Hemoglobin variant
HbVar.537 protEffect HBB 132(H9) Gln>Pro
HbVar.537 commonName Hb Shanghai
HbVar.537 ethnic Chinese
HbVar.537 phenoCommon Hemoglobin variant
HbVar.538 protEffect HBB 132(H9) Gln>Arg
HbVar.538 commonName Hb Sarrebourg
HbVar.538 ethnic Turkish
HbVar.538 phenoCommon Hemoglobin variant
HbVar.539 protEffect HBB 132(H9) Gln>His
HbVar.539 commonName Hb Silver Springs
HbVar.539 ethnic African-American
HbVar.539 phenoCommon Hemoglobin variant
HbVar.540 protEffect HBB 133(H10) Lys>Gln
HbVar.540 commonName Hb K-Woolwich
HbVar.540 ethnic Black
HbVar.540 phenoCommon Hemoglobin variant
HbVar.540 phenoCommon Normal
HbVar.541 protEffect HBB 133(H10) Lys>Asn
HbVar.541 commonName Hb Yamagata
HbVar.541 ethnic Japanese
HbVar.541 phenoCommon Hemoglobin variant
HbVar.542 protEffect HBB 133(H10) Lys>Thr
HbVar.542 commonName Hb Cook
HbVar.542 ethnic Thai
HbVar.542 phenoCommon Hemoglobin variant
HbVar.543 protEffect HBB 133(H10) Lys>Glu
HbVar.543 commonName Hb Takasago
HbVar.543 ethnic Japanese
HbVar.543 phenoCommon Hemoglobin variant
HbVar.544 protEffect HBB 134(H11) Val>Leu AND HBB 65(E8) Gly>Ser
HbVar.544 commonName Hb Extremadura
HbVar.544 ethnic Spanish
HbVar.544 phenoCommon Hemoglobin variant
HbVar.545 protEffect HBB 135(H12) Val>Glu
HbVar.545 commonName Hb North Shore
HbVar.545 alias Hb North Shore-Caracas
HbVar.545 ethnic English
HbVar.545 ethnic Venezuelan
HbVar.545 ethnic Anglo-Celtic
HbVar.545 phenoCommon Hemoglobin variant
HbVar.546 protEffect HBB 136(H13) Ala>Pro
HbVar.546 commonName Hb Altdorf
HbVar.546 ethnic Italian
HbVar.546 phenoCommon Hemoglobin variant
HbVar.547 protEffect HBB 136(H13) Ala>Asp
HbVar.547 commonName Hb Beckman
HbVar.547 ethnic Black
HbVar.547 phenoCommon Hemoglobin variant
HbVar.548 protEffect HBB 137(H14) Gly>Asp
HbVar.548 commonName Hb Hope
HbVar.548 ethnic Black
HbVar.548 ethnic Cuban
HbVar.548 ethnic Japanese
HbVar.548 ethnic Laotian
HbVar.548 ethnic Thai
HbVar.548 phenoCommon Hemoglobin variant
HbVar.549 protEffect HBB 137(H14) Gly>Ala
HbVar.549 commonName Hb Petit Bourg
HbVar.549 ethnic English
HbVar.549 ethnic French West Indies
HbVar.549 phenoCommon Hemoglobin variant
HbVar.550 protEffect HBB 137(H14) Gly>Ser
HbVar.550 commonName Hb Perpignan
HbVar.550 ethnic French Caucasian
HbVar.550 phenoCommon Hemoglobin variant
HbVar.551 protEffect HBB 139(H16) Ala>Pro
HbVar.551 commonName Hb Brockton
HbVar.551 ethnic Caucasian
HbVar.551 ethnic Turkish
HbVar.551 ethnic Chinese
HbVar.551 phenoCommon Hemoglobin variant
HbVar.552 protEffect HBB 140(H17) Asn>Asp
HbVar.552 commonName Hb Geelong
HbVar.552 ethnic Polish
HbVar.552 ethnic Russian
HbVar.552 ethnic Thai
HbVar.552 ethnic Tatar
HbVar.552 phenoCommon Hemoglobin variant
HbVar.553 protEffect HBB 140(H17) Asn>Lys
HbVar.553 commonName Hb Hinsdale
HbVar.553 phenoCommon Hemoglobin variant
HbVar.554 protEffect HBB 140(H17) Asn>Tyr
HbVar.554 commonName Hb Aurora
HbVar.554 ethnic Dutch
HbVar.554 phenoCommon Hemoglobin variant
HbVar.555 protEffect HBB 141(H18) Ala>Thr
HbVar.555 commonName Hb Saint-Jacques
HbVar.555 ethnic Caucasian
HbVar.555 phenoCommon Hemoglobin variant
HbVar.556 protEffect HBB 141(H18) Ala>Asp
HbVar.556 commonName Hb Himeji
HbVar.556 ethnic Japanese
HbVar.556 ethnic Portuguese
HbVar.556 phenoCommon Hemoglobin variant
HbVar.557 protEffect HBB 141(H18) Ala>Val
HbVar.557 commonName Hb Puttelange
HbVar.557 ethnic French
HbVar.557 phenoCommon Hemoglobin variant
HbVar.558 protEffect HBB 142(H19) Leu>Arg
HbVar.558 commonName Hb Olmsted
HbVar.558 ethnic French
HbVar.558 ethnic Caucasian
HbVar.558 phenoCommon Hemoglobin variant
HbVar.559 protEffect HBB 143(H20) Ala>Asp
HbVar.559 commonName Hb Ohio
HbVar.559 ethnic Scottish
HbVar.559 ethnic English
HbVar.559 phenoCommon Hemoglobin variant
HbVar.560 protEffect HBB 143(H20) Ala>Pro
HbVar.560 commonName Hb Toyoake
HbVar.560 ethnic Japanese
HbVar.560 phenoCommon Hemoglobin variant
HbVar.561 protEffect HBB 144(H21) His>Asn
HbVar.561 commonName Hb Sapporo
HbVar.561 ethnic Japanese
HbVar.561 phenoCommon Hemoglobin variant
HbVar.562 protEffect HBB 144(H21) His>Arg
HbVar.562 commonName Hb Abruzzo
HbVar.562 ethnic Italian
HbVar.562 ethnic American
HbVar.562 phenoCommon Hemoglobin variant
HbVar.563 protEffect HBB 144(H21) His>Gln
HbVar.563 commonName Hb Little Rock
HbVar.563 ethnic American
HbVar.563 phenoCommon Hemoglobin variant
HbVar.564 protEffect HBB 144(H21) His>Pro
HbVar.564 commonName Hb Syracuse
HbVar.564 ethnic Caucasian
HbVar.564 ethnic Japanese
HbVar.564 phenoCommon Hemoglobin variant
HbVar.565 protEffect HBB 144(H21) His>Asp
HbVar.565 commonName Hb Rancho Mirage
HbVar.565 phenoCommon Hemoglobin variant
HbVar.566 protEffect HBB 144(H21) His>Tyr
HbVar.566 commonName Hb Old Dominion/Burton-upon-Trent (OD/BuT)
HbVar.566 ethnic Scottish
HbVar.566 ethnic Irish
HbVar.566 phenoCommon Hemoglobin variant
HbVar.567 protEffect HBB 145(HC1) Lys>Asn
HbVar.567 commonName Hb Andrew-Minneapolis
HbVar.567 ethnic German
HbVar.567 ethnic Bulgarian
HbVar.567 phenoCommon Hemoglobin variant
HbVar.568 protEffect HBB 145(HC1) Lys>Glu
HbVar.568 commonName Hb Mito
HbVar.568 ethnic Japanese
HbVar.568 phenoCommon Hemoglobin variant
HbVar.569 protEffect HBB 145(HC1) Lys>Met
HbVar.569 commonName Hb Barbizon
HbVar.569 ethnic French Caucasian
HbVar.569 phenoCommon Hemoglobin variant
HbVar.570 protEffect HBB 146(HC2) Tyr>His
HbVar.570 commonName Hb Bethesda
HbVar.570 ethnic Chinese
HbVar.570 ethnic Canadian
HbVar.570 ethnic Caucasian
HbVar.570 phenoCommon Hemoglobin variant
HbVar.571 protEffect HBB 146(HC2) Tyr>Cys
HbVar.571 commonName Hb Rainier
HbVar.571 ethnic Caucasian
HbVar.571 ethnic French
HbVar.571 ethnic Greek
HbVar.571 ethnic Italian
HbVar.571 phenoCommon Hemoglobin variant
HbVar.572 protEffect HBB 146(HC2) Tyr>Asn
HbVar.572 commonName Hb Osler
HbVar.572 alias Hb Fort Gordon
HbVar.572 ethnic Black
HbVar.572 phenoCommon Hemoglobin variant
HbVar.573 protEffect HBB 146(HC2) Tyr>Asp
HbVar.573 commonName Hb Nancy
HbVar.573 ethnic French
HbVar.573 phenoCommon Hemoglobin variant
HbVar.574 protEffect HBB 146(HC2) Tyr-His->0
HbVar.574 commonName Hb McKees Rocks
HbVar.574 ethnic Caucasian
HbVar.574 phenoCommon Hemoglobin variant
HbVar.575 protEffect HBB 147(HC3) His>Asp
HbVar.575 commonName Hb Hiroshima
HbVar.575 ethnic Japanese
HbVar.575 phenoCommon Hemoglobin variant
HbVar.576 protEffect HBB 147(HC3) His>Pro
HbVar.576 commonName Hb York
HbVar.576 ethnic Caucasian
HbVar.576 phenoCommon Hemoglobin variant
HbVar.577 protEffect HBB 147(HC3) His>Arg
HbVar.577 commonName Hb Cochin-Port Royal
HbVar.577 ethnic French
HbVar.577 phenoCommon Hemoglobin variant
HbVar.578 protEffect HBB 147(HC3) His>Leu
HbVar.578 commonName Hb Cowtown
HbVar.578 ethnic Caucasian
HbVar.578 phenoCommon Hemoglobin variant
HbVar.579 protEffect HBB 147(HC3) His>Gln
HbVar.579 commonName Hb Kodaira
HbVar.579 ethnic Japanese
HbVar.579 phenoCommon Hemoglobin variant
HbVar.580 protEffect HBG2 2(NA1) Gly>Cys
HbVar.580 commonName Hb F-Malaysia
HbVar.580 ethnic Chinese
HbVar.580 phenoCommon Hemoglobin variant
HbVar.581 protEffect HBG2 6(A2) Glu>Gly
HbVar.581 commonName Hb F-Meinohama
HbVar.581 ethnic Japanese
HbVar.581 phenoCommon Hemoglobin variant
HbVar.582 protEffect HBG2 8(A4) Asp>Asn
HbVar.582 commonName Hb F-Auckland
HbVar.582 ethnic American
HbVar.582 ethnic New Zealand
HbVar.582 phenoCommon Hemoglobin variant
HbVar.583 protEffect HBG2 9(A5) Lys>Gln OR HBG2 9(A5) Lys>Glu
HbVar.583 commonName Hb F-Albaicin
HbVar.583 ethnic Spanish
HbVar.583 phenoCommon Hemoglobin variant
HbVar.584 protEffect HBG2 13(A9) Thr>Arg
HbVar.584 commonName Hb F-Heather
HbVar.584 phenoCommon Hemoglobin variant
HbVar.585 protEffect HBG2 16(A12) Trp>Arg
HbVar.585 commonName Hb F-Catalonia
HbVar.585 ethnic Spanish
HbVar.585 phenoCommon Hemoglobin variant
HbVar.586 protEffect HBG2 17(A13) Gly>Arg
HbVar.586 commonName Hb F-Melbourne
HbVar.586 ethnic Spanish
HbVar.586 phenoCommon Hemoglobin variant
HbVar.587 protEffect HBG2 22(B3) Glu>Gln
HbVar.587 commonName Hb F-Fuchu
HbVar.587 ethnic Japanese
HbVar.587 phenoCommon Hemoglobin variant
HbVar.588 protEffect HBG2 22(B3) Glu>Lys
HbVar.588 commonName Hb F-Saskatoon
HbVar.588 ethnic American Indian
HbVar.588 phenoCommon Hemoglobin variant
HbVar.589 protEffect HBG2 23(B4) Asp>Gly
HbVar.589 commonName Hb F-Urumqi
HbVar.589 ethnic Chinese
HbVar.589 phenoCommon Hemoglobin variant
HbVar.590 protEffect HBG2 23(B4) Asp>Val
HbVar.590 commonName Hb F-Granada
HbVar.590 ethnic Spanish
HbVar.590 phenoCommon Hemoglobin variant
HbVar.591 protEffect HBG2 26(B7) Gly>Glu
HbVar.591 commonName Hb F-Cosenza
HbVar.591 ethnic Italian
HbVar.591 phenoCommon Hemoglobin variant
HbVar.592 protEffect HBG2 27(B8) Glu>Lys
HbVar.592 commonName Hb F-Oakland
HbVar.592 ethnic Chinese
HbVar.592 ethnic Black
HbVar.592 phenoCommon Hemoglobin variant
HbVar.593 protEffect HBG2 35(B16) Val>Ile
HbVar.593 commonName Hb F-Tokyo
HbVar.593 ethnic Japanese
HbVar.593 phenoCommon Hemoglobin variant
HbVar.594 protEffect HBG2 41(C6) Arg>Lys
HbVar.594 commonName Hb F-Austell
HbVar.594 ethnic Black
HbVar.594 phenoCommon Hemoglobin variant
HbVar.595 protEffect HBG2 41(C6) Arg>Gly
HbVar.595 commonName Hb F-Veleta
HbVar.595 ethnic Spanish
HbVar.595 phenoCommon Hemoglobin variant
HbVar.596 protEffect HBG2 42(C7) Phe>Ser
HbVar.596 commonName Hb F-Cincinnati
HbVar.596 ethnic Caucasian
HbVar.596 phenoCommon Hemoglobin variant
HbVar.597 protEffect HBG2 45(CD3) Ser>Arg
HbVar.597 commonName Hb F-Lodz
HbVar.597 ethnic Polish
HbVar.597 phenoCommon Hemoglobin variant
HbVar.598 protEffect HBG2 56(D6) Met>Arg
HbVar.598 commonName Hb F-Kingston
HbVar.598 ethnic Jamaican
HbVar.598 ethnic Spanish
HbVar.598 phenoCommon Hemoglobin variant
HbVar.599 protEffect HBG2 60(E3) Lys>Gln
HbVar.599 commonName Hb F-Sacromonte
HbVar.599 alias Hb F-Foch
HbVar.599 ethnic Spanish
HbVar.599 ethnic French
HbVar.599 phenoCommon Hemoglobin variant
HbVar.600 protEffect HBG2 60(E3) Lys>Glu
HbVar.600 commonName Hb F-Emirates
HbVar.600 ethnic Arabian
HbVar.600 phenoCommon Hemoglobin variant
HbVar.601 protEffect HBG2 64(E7) His>Tyr
HbVar.601 commonName Hb F-M-Osaka
HbVar.601 ethnic Caucasian
HbVar.601 ethnic Japanese
HbVar.601 phenoCommon Hemoglobin variant
HbVar.602 protEffect HBG2 66(E9) Lys>Asn
HbVar.602 commonName Hb F-Clarke
HbVar.602 ethnic Hispanic
HbVar.602 phenoCommon Hemoglobin variant
HbVar.603 protEffect HBG2 67(E10) Lys>Arg
HbVar.603 commonName Hb F-Shanghai
HbVar.603 ethnic Chinese
HbVar.603 phenoCommon Hemoglobin variant
HbVar.604 protEffect HBG2 67(E10) Lys>Gln
HbVar.604 commonName Hb F-Brooklyn
HbVar.604 ethnic Caucasian
HbVar.604 phenoCommon Hemoglobin variant
HbVar.605 protEffect HBG2 73(E16) Gly>Arg
HbVar.605 commonName Hb F-Minoo
HbVar.605 ethnic Japanese
HbVar.605 phenoCommon Hemoglobin variant
HbVar.606 protEffect HBG2 76(E19) Ile>Thr
HbVar.606 commonName Hb F-Lesvos
HbVar.606 alias Hb F-Waynesboro
HbVar.606 alias Hb F-Sassari
HbVar.606 phenoCommon Hemoglobin variant
HbVar.607 protEffect HBG2 78(EF1) His>Arg
HbVar.607 commonName Hb F-Kennestone
HbVar.607 ethnic Caucasian
HbVar.607 phenoCommon Hemoglobin variant
HbVar.608 protEffect HBG2 81(EF4) Asp>Asn
HbVar.608 commonName Hb F-Marietta
HbVar.608 ethnic Caucasian
HbVar.608 phenoCommon Hemoglobin variant
HbVar.609 protEffect HBG2 93(F8) His>Tyr
HbVar.609 commonName Hb F-M-Fort Ripley
HbVar.609 ethnic American
HbVar.609 ethnic Canadian
HbVar.609 phenoCommon Hemoglobin variant
HbVar.610 protEffect HBG2 95(FG1) Asp>Asn
HbVar.610 commonName Hb F-Columbus-GA
HbVar.610 ethnic Caucasian
HbVar.610 phenoCommon Hemoglobin variant
HbVar.611 protEffect HBG2 102(G3) Glu>Lys
HbVar.611 commonName Hb F-La Grange
HbVar.611 ethnic Caucasian
HbVar.611 phenoCommon Hemoglobin variant
HbVar.612 protEffect HBG2 105(G6) Lys>Asn
HbVar.612 commonName Hb F-Macedonia-II
HbVar.612 ethnic Macedonian
HbVar.612 phenoCommon Hemoglobin variant
HbVar.613 protEffect HBG2 118(G19) His>Arg
HbVar.613 commonName Hb F-Malta-I
HbVar.613 ethnic Maltese
HbVar.613 ethnic Italian
HbVar.613 phenoCommon Hemoglobin variant
HbVar.614 protEffect HBG2 121(GH3) Lys>Gln
HbVar.614 commonName Hb F-Caltech
HbVar.614 ethnic French
HbVar.614 ethnic Swedish
HbVar.614 ethnic Hispanic
HbVar.614 phenoCommon Hemoglobin variant
HbVar.615 protEffect HBG2 122(GH4) Glu>Lys
HbVar.615 commonName Hb F-Carlton
HbVar.615 ethnic Italian
HbVar.615 phenoCommon Hemoglobin variant
HbVar.616 protEffect HBG2 126(H3) Glu>Ala
HbVar.616 commonName Hb F-Port Royal
HbVar.616 ethnic Black
HbVar.616 phenoCommon Hemoglobin variant
HbVar.617 protEffect HBG2 131(H8) Trp>Gly
HbVar.617 commonName Hb F-Poole
HbVar.617 ethnic Black
HbVar.617 ethnic Caucasian
HbVar.617 phenoCommon Hemoglobin variant
HbVar.618 protEffect HBG2 147(HC3) His>Tyr
HbVar.618 commonName Hb F-Onoda
HbVar.618 ethnic Japanese
HbVar.618 phenoCommon Hemoglobin variant
HbVar.619 protEffect HBG1 3(NA2) His>Gln
HbVar.619 commonName Hb F-Macedonia-I
HbVar.619 ethnic Macedonian
HbVar.619 phenoCommon Hemoglobin variant
HbVar.620 protEffect HBG1 6(A2) Glu>Lys
HbVar.620 commonName Hb F-Texas-I
HbVar.620 ethnic Black
HbVar.620 phenoCommon Hemoglobin variant
HbVar.621 protEffect HBG1 7(A3) Glu>Gly
HbVar.621 commonName Hb F-Kotobuki
HbVar.621 alias Hb F-Izumi
HbVar.621 ethnic Japanese
HbVar.621 phenoCommon Hemoglobin variant
HbVar.622 protEffect HBG1 7(A3) Glu>Gln
HbVar.622 commonName Hb F-Pordenone
HbVar.622 ethnic Italian
HbVar.622 phenoCommon Hemoglobin variant
HbVar.623 protEffect HBG1 13(A9) Thr>Arg
HbVar.623 commonName Hb F-Calluna
HbVar.623 ethnic Caucasian
HbVar.623 phenoCommon Hemoglobin variant
HbVar.624 protEffect HBG1 23(B4) Asp>Gly
HbVar.624 commonName Hb F-Kuala Lumpur
HbVar.624 ethnic Indian
HbVar.624 phenoCommon Hemoglobin variant
HbVar.625 protEffect HBG1 37(C2) Pro>Arg
HbVar.625 commonName Hb F-Pendergrass
HbVar.625 ethnic Caucasian
HbVar.625 phenoCommon Hemoglobin variant
HbVar.626 protEffect HBG1 38(C3) Trp>Gly
HbVar.626 commonName Hb F-Cobb
HbVar.626 ethnic Caucasian
HbVar.626 phenoCommon Hemoglobin variant
HbVar.627 protEffect HBG1 40(C5) Gln>Arg
HbVar.627 commonName Hb F-Bonaire-GA
HbVar.627 ethnic Caucasian
HbVar.627 ethnic Vietnamese
HbVar.627 phenoCommon Hemoglobin variant
HbVar.628 protEffect HBG1 41(C6) Arg>Lys
HbVar.628 commonName Hb F-Woodstock
HbVar.628 ethnic Black
HbVar.628 phenoCommon Hemoglobin variant
HbVar.629 protEffect HBG1 54(D4) Ala>Asp
HbVar.629 commonName Hb F-Beech Island
HbVar.629 ethnic Black
HbVar.629 ethnic Caucasian
HbVar.629 phenoCommon Hemoglobin variant
HbVar.630 protEffect HBG1 62(E5) Lys>Glu
HbVar.630 commonName Hb F-Jamaica
HbVar.630 phenoCommon Hemoglobin variant
HbVar.631 protEffect HBG1 73(E16) Gly>Arg
HbVar.631 commonName Hb F-Iwata
HbVar.631 ethnic Japanese
HbVar.631 phenoCommon Hemoglobin variant
HbVar.632 protEffect HBG1 74(E17) Asp>His
HbVar.632 commonName Hb F-Xin-Su
HbVar.632 ethnic Chinese
HbVar.632 phenoCommon Hemoglobin variant
HbVar.633 protEffect HBG1 76(E19) Ile>Thr
HbVar.633 commonName Hb F-Sardinia (AgammaT)
HbVar.633 phenoCommon Hemoglobin variant
HbVar.634 protEffect HBG1 80(EF3) Asp>Asn
HbVar.634 commonName Hb F-Dammam
HbVar.634 ethnic Arabian
HbVar.634 phenoCommon Hemoglobin variant
HbVar.635 protEffect HBG1 81(EF4) Asp>Tyr
HbVar.635 commonName Hb F-Victoria Jubilee
HbVar.635 ethnic Black
HbVar.635 phenoCommon Hemoglobin variant
HbVar.636 protEffect HBG1 98(FG4) His>Arg
HbVar.636 commonName Hb F-Dickinson
HbVar.636 phenoCommon Hemoglobin variant
HbVar.637 protEffect HBG1 122(GH4) Glu>Lys
HbVar.637 commonName Hb F-Hull
HbVar.637 ethnic English
HbVar.637 phenoCommon Hemoglobin variant
HbVar.638 protEffect HBG1 129(H6) Ala>Thr
HbVar.638 commonName Hb F-Baskent
HbVar.638 ethnic Turkish
HbVar.638 phenoCommon Hemoglobin variant
HbVar.639 protEffect HBG1 135(H12) Val>Met
HbVar.639 commonName Hb F-Jiangsu
HbVar.639 ethnic Chinese
HbVar.639 phenoCommon Hemoglobin variant
HbVar.640 protEffect HBG1 or HBG2 7(A3) Glu>Lys
HbVar.640 commonName Hb F-Texas-II
HbVar.640 ethnic English
HbVar.640 phenoCommon Hemoglobin variant
HbVar.641 protEffect HBG2 or HBG1 13(A9) Thr>Lys
HbVar.641 commonName Hb F-Alexandra
HbVar.641 ethnic Greek
HbVar.641 ethnic Swiss
HbVar.641 phenoCommon Hemoglobin variant
HbVar.642 protEffect HBG1 or HBG2 109(G10) Asn>Lys
HbVar.642 commonName Hb F-Ube
HbVar.642 ethnic Japanese
HbVar.642 phenoCommon Hemoglobin variant
HbVar.643 protEffect HBG1 24(B5) Ala->0
HbVar.643 commonName Hb F-Mauritius
HbVar.643 phenoCommon Hemoglobin variant
HbVar.644 protEffect HBG1 26(B7) Gly>Arg
HbVar.644 commonName Hb F-Xinjiang
HbVar.644 ethnic Chinese
HbVar.644 phenoCommon Hemoglobin variant
HbVar.645 protEffect HBG1 44(CD2) Asp>Asn
HbVar.645 commonName Hb F-Fukuyama
HbVar.645 ethnic Japanese
HbVar.645 phenoCommon Hemoglobin variant
HbVar.646 protEffect HBG1 74(E17) Asp>Asn
HbVar.646 commonName Hb F-Forest Park
HbVar.646 ethnic Caucasian
HbVar.646 phenoCommon Hemoglobin variant
HbVar.647 protEffect HBG1 81(EF4) Asp>Asn
HbVar.647 commonName Hb F-Yamaguchi
HbVar.647 ethnic Japanese
HbVar.647 phenoCommon Hemoglobin variant
HbVar.648 protEffect HBG1 122(GH4) Glu>Lys
HbVar.648 commonName Hb F-Siena
HbVar.648 ethnic Italian
HbVar.648 phenoCommon Hemoglobin variant
HbVar.649 commonName -101 (C->T) beta+ (silent)
HbVar.649 ethnic United Arab Emirates
HbVar.649 ethnic Italian
HbVar.649 ethnic Sicilian
HbVar.649 ethnic Greek
HbVar.649 ethnic Turkish
HbVar.649 ethnic Bulgarian
HbVar.649 phenoCommon beta+ thalassemia
HbVar.650 protEffect HBD 2(NA1) Val>Ala
HbVar.650 commonName Hb A2-Niigata
HbVar.650 ethnic Japanese
HbVar.650 phenoCommon Hemoglobin variant
HbVar.651 protEffect HBD 3(NA2) His>Arg
HbVar.651 commonName Hb A2-Sphakia
HbVar.651 ethnic Cretan
HbVar.651 ethnic Mediterranean
HbVar.651 phenoCommon Hemoglobin variant
HbVar.652 protEffect HBD 12(A8) Val>Gly
HbVar.652 commonName Hb A2-Pylos
HbVar.652 ethnic Greek
HbVar.652 phenoCommon Hemoglobin variant
HbVar.653 protEffect HBD 13(A9) Asn>Lys
HbVar.653 commonName Hb A2-NYU
HbVar.653 ethnic Russian
HbVar.653 ethnic Greek
HbVar.653 ethnic Jewish
HbVar.653 ethnic Ukrainian
HbVar.653 ethnic Dutch
HbVar.653 phenoCommon Hemoglobin variant
HbVar.654 protEffect HBD 17(A13) Gly>Arg
HbVar.654 commonName Hb A2' or Hb B2
HbVar.654 ethnic Black
HbVar.654 ethnic African-American
HbVar.654 phenoCommon Hemoglobin variant
HbVar.655 protEffect HBD 21(B2) Val>Glu
HbVar.655 commonName Hb A2-Roosevelt
HbVar.655 ethnic Iraqi
HbVar.655 phenoCommon Hemoglobin variant
HbVar.656 protEffect HBD 23(B4) Ala>Glu
HbVar.656 commonName Hb A2-Flatbush
HbVar.656 ethnic Black
HbVar.656 phenoCommon Hemoglobin variant
HbVar.657 protEffect HBD 25(B6) Gly>Asp
HbVar.657 commonName Hb A2-Victoria
HbVar.657 ethnic Iraqi
HbVar.657 phenoCommon Hemoglobin variant
HbVar.658 protEffect HBD 26(B7) Gly>Asp
HbVar.658 commonName Hb A2-Yokoshima
HbVar.658 ethnic Japanese
HbVar.658 phenoCommon Hemoglobin variant
HbVar.659 protEffect HBD 27(B8) Glu>Asp
HbVar.659 commonName Hb A2-Puglia
HbVar.659 ethnic Italian
HbVar.659 phenoCommon Hemoglobin variant
HbVar.660 protEffect HBD 28(B9) Ala>Ser
HbVar.660 commonName Hb A2-Yialousa
HbVar.660 alias Codon 27 (GCC->TCC) delta+
HbVar.660 ethnic Greek
HbVar.660 ethnic Greek Cypriot
HbVar.660 ethnic Sardinian
HbVar.660 phenoCommon Thalassemia
HbVar.661 protEffect HBD 37(C2) Pro>His
HbVar.661 commonName Hb A2-Metaponto
HbVar.661 ethnic Italian
HbVar.661 phenoCommon Hemoglobin variant
HbVar.662 protEffect HBD 44(CD2) Glu>Lys
HbVar.662 commonName Hb A2-Melbourne
HbVar.662 ethnic Italian
HbVar.662 phenoCommon Hemoglobin variant
HbVar.663 protEffect HBD 44(CD2) Glu>Gly
HbVar.663 commonName Hb A2-Agrinio
HbVar.663 ethnic Greek
HbVar.663 phenoCommon Hemoglobin variant
HbVar.664 protEffect HBD 48(CD6) Asp>Val
HbVar.664 commonName Hb A2-Parkville
HbVar.664 ethnic Italian
HbVar.664 phenoCommon Hemoglobin variant
HbVar.665 protEffect HBD 52(D2) Pro>Arg
HbVar.665 commonName Hb A2-Adria
HbVar.665 ethnic Italian
HbVar.665 phenoCommon Hemoglobin variant
HbVar.666 protEffect HBD 70(E13) Gly>Arg
HbVar.666 commonName Hb A2-Indonesia
HbVar.666 ethnic Indonesian
HbVar.666 ethnic Malay
HbVar.666 phenoCommon Hemoglobin variant
HbVar.667 protEffect HBD 76(E19) Leu>Val
HbVar.667 commonName Hb A2-Grovetown
HbVar.667 ethnic Black
HbVar.667 phenoCommon Hemoglobin variant
HbVar.668 protEffect HBD 84(EF7) Gly>Asp
HbVar.668 commonName Hb A2-Nishishinbashi
HbVar.668 ethnic Japanese
HbVar.668 phenoCommon Hemoglobin variant
HbVar.669 protEffect HBD 86(F1) Phe>Ser
HbVar.669 commonName Hb A2-Etolia
HbVar.669 ethnic Greek
HbVar.669 phenoCommon Hemoglobin variant
HbVar.670 protEffect HBD 91(F6) Glu>Val
HbVar.670 commonName Hb A2-Honai
HbVar.670 ethnic Japanese
HbVar.670 phenoCommon Hemoglobin variant
HbVar.671 protEffect HBD 94(F9) Cys>Gly
HbVar.671 commonName Hb A2-Sant' Antioco
HbVar.671 ethnic Sardinian
HbVar.671 phenoCommon Hemoglobin variant
HbVar.672 protEffect HBD 99(FG5) Val>Met
HbVar.672 commonName Hb A2-Wrens
HbVar.672 alias Codon 98 (GTG->ATG) delta+
HbVar.672 ethnic Black
HbVar.672 phenoCommon delta+ thalassemia
HbVar.673 protEffect HBD 100(G1) Asp>Asn
reichardt_2 commonName T756C
reichardt_2 protEffect C5R
reichardt_3 commonName C832T
reichardt_3 protEffect P30L
reichardt_4 commonName C886G
reichardt_4 protEffect P48R
reichardt_5 commonName G888A
reichardt_5 protEffect A49T
reichardt_6 commonName G894A
reichardt_6 protEffect A51T
reichardt_7 commonName C957T
reichardt_7 protEffect P72S
reichardt_8 commonName G1008C
reichardt_8 protEffect L89V
reichardt_9 commonName C1902T
reichardt_9 protEffect T187M
reichardt_10 commonName C1924G
reichardt_10 protEffect F194L
reichardt_11 commonName 1994delT
reichardt_11 protEffect frameshift
reichardt_12 commonName G2022A
reichardt_12 protEffect R227Q
reichardt_13 commonName C2244G
reichardt_13 protEffect F234L
reichardt_14 commonName A95C
reichardt_15 commonName A97T
reichardt_16 commonName G362A
reichardt_17 commonName C528A
reichardt_18 commonName C682G
reichardt_19 commonName C742A
reichardt_20 commonName C905T
reichardt_21 commonName C926T
reichardt_22 commonName C950T
reichardt_23 commonName G952A
reichardt_24 commonName G953A
reichardt_25 commonName C1001G
reichardt_26 commonName C1016T
reichardt_27 commonName C1037G
reichardt_28 commonName T1039C
reichardt_29 commonName G1044A
reichardt_30 commonName G1047T
reichardt_31 commonName A1061C
reichardt_32 commonName A1395C
reichardt_33 commonName A1545T
reichardt_34 commonName A1888C
reichardt_35 commonName G1892C
reichardt_36 commonName C1927T
reichardt_37 commonName T2038C
reichardt_38 commonName T2584C
reichardt_39 commonName A3146T
reichardt_40 commonName A3174G
reichardt_41 commonName A3681C
reichardt_42 commonName G3877A
reichardt_43 commonName A4168G?
VAR_000006 commonName VAR_000006
VAR_000006 disease phenotype-associated
VAR_000006 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_000007 commonName VAR_000007
VAR_000007 disease phenotype-associated
VAR_000007 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_000008 commonName VAR_000008
VAR_000008 disease phenotype-associated
VAR_000008 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
HbVar.673 commonName Hb A2-Canada
HbVar.673 ethnic Indian
VAR_000009 commonName VAR_000009
VAR_000009 disease phenotype-associated
VAR_000009 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_000010 commonName VAR_000010
VAR_000010 disease phenotype-associated
VAR_000010 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_000011 commonName VAR_000011
VAR_000011 disease phenotype-associated
VAR_000011 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_000012 commonName VAR_000012
VAR_000012 disease not phenotype-associated
VAR_000013 commonName VAR_000013
VAR_000013 disease not phenotype-associated
VAR_000014 commonName VAR_000014
VAR_000014 disease not phenotype-associated
VAR_000016 commonName VAR_000016
VAR_000016 disease phenotype-associated
VAR_000016 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000017 commonName VAR_000017
VAR_000017 disease phenotype-associated
VAR_000017 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
VAR_000018 commonName VAR_000018
VAR_000019 commonName VAR_000019
VAR_000019 disease phenotype-associated
VAR_000019 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000020 commonName VAR_000020
VAR_000020 disease phenotype-associated
VAR_000020 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000021 commonName VAR_000021
VAR_000021 disease phenotype-associated
VAR_000021 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000022 commonName VAR_000022
VAR_000022 disease phenotype-associated
VAR_000022 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000023 commonName VAR_000023
VAR_000023 disease phenotype-associated
VAR_000023 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_000024 commonName VAR_000024
VAR_000024 disease phenotype-associated
VAR_000024 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000025 commonName VAR_000025
VAR_000025 disease phenotype-associated
VAR_000025 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000026 commonName VAR_000026
VAR_000026 disease phenotype-associated
VAR_000026 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000027 commonName VAR_000027
VAR_000027 disease phenotype-associated
VAR_000027 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000028 commonName VAR_000028
VAR_000028 disease phenotype-associated
VAR_000028 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000029 commonName VAR_000029
VAR_000029 disease phenotype-associated
VAR_000029 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000030 commonName VAR_000030
VAR_000030 disease phenotype-associated
VAR_000030 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000033 commonName VAR_000033
VAR_000033 disease phenotype-associated
VAR_000033 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000034 commonName VAR_000034
VAR_000034 disease phenotype-associated
VAR_000034 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000035 commonName VAR_000035
VAR_000035 disease phenotype-associated
VAR_000035 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000036 commonName VAR_000036
VAR_000036 disease phenotype-associated
VAR_000036 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000037 commonName VAR_000037
VAR_000037 disease phenotype-associated
VAR_000037 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000038 commonName VAR_000038
VAR_000038 disease phenotype-associated
VAR_000038 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000039 commonName VAR_000039
VAR_000039 disease phenotype-associated
VAR_000039 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000040 commonName VAR_000040
VAR_000040 disease phenotype-associated
VAR_000040 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000041 commonName VAR_000041
VAR_000041 disease phenotype-associated
VAR_000041 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000042 commonName VAR_000042
VAR_000042 disease phenotype-associated
VAR_000042 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000043 commonName VAR_000043
VAR_000043 disease phenotype-associated
VAR_000043 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000044 commonName VAR_000044
VAR_000044 disease phenotype-associated
VAR_000044 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000045 commonName VAR_000045
VAR_000045 disease phenotype-associated
VAR_000045 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000046 commonName VAR_000046
VAR_000046 disease phenotype-associated
VAR_000046 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000047 commonName VAR_000047
VAR_000047 disease phenotype-associated
VAR_000047 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000048 commonName VAR_000048
VAR_000048 disease phenotype-associated
VAR_000048 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000049 commonName VAR_000049
VAR_000049 disease phenotype-associated
VAR_000049 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000050 commonName VAR_000050
VAR_000050 disease phenotype-associated
VAR_000050 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000051 commonName VAR_000051
VAR_000051 disease phenotype-associated
VAR_000051 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000052 commonName VAR_000052
VAR_000052 disease phenotype-associated
VAR_000052 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000053 commonName VAR_000053
VAR_000053 disease phenotype-associated
VAR_000053 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000054 commonName VAR_000054
VAR_000054 disease phenotype-associated
VAR_000054 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000056 commonName VAR_000056
VAR_000056 disease phenotype-associated
VAR_000056 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000057 commonName VAR_000057
VAR_000057 disease phenotype-associated
VAR_000057 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000058 commonName VAR_000058
VAR_000058 disease phenotype-associated
VAR_000058 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000060 commonName VAR_000060
VAR_000060 disease phenotype-associated
VAR_000060 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000061 commonName VAR_000061
VAR_000061 disease phenotype-associated
VAR_000061 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000062 commonName VAR_000062
VAR_000062 disease phenotype-associated
VAR_000062 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000063 commonName VAR_000063
VAR_000063 disease phenotype-associated
VAR_000063 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000064 commonName VAR_000064
VAR_000064 disease phenotype-associated
VAR_000064 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000065 commonName VAR_000065
VAR_000065 disease phenotype-associated
VAR_000065 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000066 commonName VAR_000066
VAR_000066 disease phenotype-associated
VAR_000066 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000067 commonName VAR_000067
VAR_000067 disease phenotype-associated
VAR_000067 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000068 commonName VAR_000068
VAR_000068 disease phenotype-associated
VAR_000068 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000069 commonName VAR_000069
VAR_000069 disease phenotype-associated
VAR_000069 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000070 commonName VAR_000070
VAR_000070 disease phenotype-associated
VAR_000070 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000071 commonName VAR_000071
VAR_000071 disease phenotype-associated
VAR_000071 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000072 commonName VAR_000072
VAR_000072 disease phenotype-associated
VAR_000072 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000074 commonName VAR_000074
VAR_000074 disease phenotype-associated
VAR_000074 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000075 commonName VAR_000075
VAR_000075 disease phenotype-associated
VAR_000075 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000076 commonName VAR_000076
VAR_000076 disease phenotype-associated
VAR_000076 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000077 commonName VAR_000077
VAR_000077 disease phenotype-associated
VAR_000077 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000078 commonName VAR_000078
VAR_000078 disease phenotype-associated
VAR_000078 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000079 commonName VAR_000079
VAR_000079 disease phenotype-associated
VAR_000079 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000080 commonName VAR_000080
VAR_000080 disease phenotype-associated
VAR_000080 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000081 commonName VAR_000081
VAR_000081 disease phenotype-associated
VAR_000081 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000082 commonName VAR_000082
VAR_000082 disease phenotype-associated
VAR_000082 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000083 commonName VAR_000083
VAR_000083 disease phenotype-associated
VAR_000083 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000084 commonName VAR_000084
VAR_000084 disease phenotype-associated
VAR_000084 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000085 commonName VAR_000085
VAR_000085 disease phenotype-associated
VAR_000085 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000086 commonName VAR_000086
VAR_000086 disease phenotype-associated
VAR_000086 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000087 commonName VAR_000087
VAR_000087 disease phenotype-associated
VAR_000087 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000089 commonName VAR_000089
VAR_000089 disease phenotype-associated
VAR_000089 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000090 commonName VAR_000090
VAR_000090 disease phenotype-associated
VAR_000090 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_000091 commonName VAR_000091
VAR_000099 commonName VAR_000099
VAR_000099 disease phenotype-associated
VAR_000099 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500]
VAR_000100 commonName VAR_000100
VAR_000100 disease phenotype-associated
VAR_000100 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_000101 commonName VAR_000101
VAR_000101 disease phenotype-associated
VAR_000101 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000102 commonName VAR_000102
VAR_000102 disease not phenotype-associated
VAR_000103 commonName VAR_000103
VAR_000103 disease phenotype-associated
VAR_000103 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000104 commonName VAR_000104
VAR_000104 disease phenotype-associated
VAR_000104 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000105 commonName VAR_000105
VAR_000105 disease phenotype-associated
VAR_000105 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000106 commonName VAR_000106
VAR_000106 disease not phenotype-associated
VAR_000107 commonName VAR_000107
VAR_000107 disease phenotype-associated
VAR_000107 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000108 commonName VAR_000108
VAR_000108 disease phenotype-associated
VAR_000108 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000109 commonName VAR_000109
VAR_000109 disease phenotype-associated
VAR_000109 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000110 commonName VAR_000110
VAR_000110 disease phenotype-associated
VAR_000110 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000111 commonName VAR_000111
VAR_000111 disease not phenotype-associated
VAR_000112 commonName VAR_000112
VAR_000112 disease phenotype-associated
VAR_000112 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000113 commonName VAR_000113
VAR_000113 disease phenotype-associated
VAR_000113 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000114 commonName VAR_000114
VAR_000114 disease phenotype-associated
VAR_000114 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000115 commonName VAR_000115
VAR_000115 disease phenotype-associated
VAR_000115 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000116 commonName VAR_000116
VAR_000116 disease phenotype-associated
VAR_000116 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000117 commonName VAR_000117
VAR_000117 disease phenotype-associated
VAR_000117 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000118 commonName VAR_000118
VAR_000118 disease phenotype-associated
VAR_000118 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000119 commonName VAR_000119
VAR_000119 disease phenotype-associated
VAR_000119 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000120 commonName VAR_000120
VAR_000120 disease phenotype-associated
VAR_000120 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000121 commonName VAR_000121
VAR_000121 disease phenotype-associated
VAR_000121 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000122 commonName VAR_000122
VAR_000122 disease phenotype-associated
VAR_000122 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000122 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000123 commonName VAR_000123
VAR_000123 disease phenotype-associated
VAR_000123 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000124 commonName VAR_000124
VAR_000124 disease phenotype-associated
VAR_000124 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000125 commonName VAR_000125
VAR_000125 disease phenotype-associated
VAR_000125 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000126 commonName VAR_000126
VAR_000126 disease phenotype-associated
VAR_000126 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000127 commonName VAR_000127
VAR_000127 disease phenotype-associated
VAR_000127 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000128 commonName VAR_000128
VAR_000128 disease phenotype-associated
VAR_000128 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000129 commonName VAR_000129
VAR_000129 disease phenotype-associated
VAR_000129 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000130 commonName VAR_000130
VAR_000130 disease phenotype-associated
VAR_000130 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000132 commonName VAR_000132
VAR_000132 disease phenotype-associated
VAR_000132 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000132 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000133 commonName VAR_000133
VAR_000133 disease phenotype-associated
VAR_000133 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000134 commonName VAR_000134
VAR_000134 disease phenotype-associated
VAR_000134 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000135 commonName VAR_000135
VAR_000135 disease phenotype-associated
VAR_000135 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000136 commonName VAR_000136
VAR_000136 disease phenotype-associated
VAR_000136 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000137 commonName VAR_000137
VAR_000137 disease phenotype-associated
VAR_000137 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000138 commonName VAR_000138
VAR_000138 disease phenotype-associated
VAR_000138 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000139 commonName VAR_000139
VAR_000139 disease phenotype-associated
VAR_000139 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000140 commonName VAR_000140
VAR_000140 disease phenotype-associated
VAR_000140 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000141 commonName VAR_000141
VAR_000141 disease phenotype-associated
VAR_000141 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000142 commonName VAR_000142
VAR_000142 disease phenotype-associated
VAR_000142 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000143 commonName VAR_000143
VAR_000143 disease phenotype-associated
VAR_000143 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000144 commonName VAR_000144
VAR_000144 disease phenotype-associated
VAR_000144 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000146 commonName VAR_000146
VAR_000146 disease phenotype-associated
VAR_000146 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000147 commonName VAR_000147
VAR_000147 disease phenotype-associated
VAR_000147 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000148 commonName VAR_000148
VAR_000148 disease phenotype-associated
VAR_000148 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000150 commonName VAR_000150
VAR_000150 disease phenotype-associated
VAR_000150 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000151 commonName VAR_000151
VAR_000151 disease phenotype-associated
VAR_000151 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000152 commonName VAR_000152
VAR_000152 disease phenotype-associated
VAR_000152 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000153 commonName VAR_000153
VAR_000153 disease phenotype-associated
VAR_000153 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000154 commonName VAR_000154
VAR_000154 disease phenotype-associated
VAR_000154 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000155 commonName VAR_000155
VAR_000155 disease phenotype-associated
VAR_000155 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000156 commonName VAR_000156
VAR_000156 disease phenotype-associated
VAR_000156 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000157 commonName VAR_000157
VAR_000157 disease phenotype-associated
VAR_000157 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000160 commonName VAR_000160
VAR_000160 disease phenotype-associated
VAR_000160 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000161 commonName VAR_000161
VAR_000161 disease phenotype-associated
VAR_000161 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000162 commonName VAR_000162
VAR_000162 disease phenotype-associated
VAR_000162 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000163 commonName VAR_000163
VAR_000163 disease not phenotype-associated
VAR_000164 commonName VAR_000164
VAR_000164 disease not phenotype-associated
VAR_000165 commonName VAR_000165
VAR_000165 disease phenotype-associated
VAR_000165 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000166 commonName VAR_000166
VAR_000166 disease phenotype-associated
VAR_000166 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000167 commonName VAR_000167
VAR_000167 disease phenotype-associated
VAR_000167 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000168 commonName VAR_000168
VAR_000168 disease not phenotype-associated
VAR_000169 commonName VAR_000169
VAR_000169 disease not phenotype-associated
VAR_000172 commonName VAR_000172
VAR_000172 disease not phenotype-associated
VAR_000173 commonName VAR_000173
VAR_000173 disease phenotype-associated
VAR_000173 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000174 commonName VAR_000174
VAR_000174 disease phenotype-associated
VAR_000174 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000175 commonName VAR_000175
VAR_000175 disease phenotype-associated
VAR_000175 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000176 commonName VAR_000176
VAR_000176 disease phenotype-associated
VAR_000176 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000177 commonName VAR_000177
VAR_000177 disease phenotype-associated
VAR_000177 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000178 commonName VAR_000178
VAR_000178 disease phenotype-associated
VAR_000178 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000179 commonName VAR_000179
VAR_000179 disease phenotype-associated
VAR_000179 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000180 commonName VAR_000180
VAR_000180 disease phenotype-associated
VAR_000180 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000181 commonName VAR_000181
VAR_000181 disease phenotype-associated
VAR_000181 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000182 commonName VAR_000182
VAR_000182 disease phenotype-associated
VAR_000182 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000183 commonName VAR_000183
VAR_000183 disease phenotype-associated
VAR_000183 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000184 commonName VAR_000184
VAR_000184 disease phenotype-associated
VAR_000184 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000185 commonName VAR_000185
VAR_000185 disease phenotype-associated
VAR_000185 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000186 commonName VAR_000186
VAR_000186 disease phenotype-associated
VAR_000186 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000187 commonName VAR_000187
VAR_000187 disease not phenotype-associated
VAR_000188 commonName VAR_000188
VAR_000188 disease phenotype-associated
VAR_000188 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000189 commonName VAR_000189
VAR_000189 disease phenotype-associated
VAR_000189 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000190 commonName VAR_000190
VAR_000190 disease phenotype-associated
VAR_000190 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000191 commonName VAR_000191
VAR_000191 disease phenotype-associated
VAR_000191 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000192 commonName VAR_000192
VAR_000192 disease phenotype-associated
VAR_000192 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000193 commonName VAR_000193
VAR_000193 disease phenotype-associated
VAR_000193 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000194 commonName VAR_000194
VAR_000194 disease phenotype-associated
VAR_000194 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000195 commonName VAR_000195
VAR_000195 disease phenotype-associated
VAR_000195 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000196 commonName VAR_000196
VAR_000196 disease not phenotype-associated
VAR_000197 commonName VAR_000197
VAR_000197 disease phenotype-associated
VAR_000197 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000198 commonName VAR_000198
VAR_000198 disease phenotype-associated
VAR_000198 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000199 commonName VAR_000199
VAR_000199 disease phenotype-associated
VAR_000199 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000200 commonName VAR_000200
VAR_000200 disease phenotype-associated
VAR_000200 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000201 commonName VAR_000201
VAR_000201 disease phenotype-associated
VAR_000201 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000202 commonName VAR_000202
VAR_000202 disease phenotype-associated
VAR_000202 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000203 commonName VAR_000203
VAR_000203 disease phenotype-associated
VAR_000203 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000204 commonName VAR_000204
VAR_000204 disease phenotype-associated
VAR_000204 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000205 commonName VAR_000205
VAR_000205 disease phenotype-associated
VAR_000205 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000206 commonName VAR_000206
VAR_000207 commonName VAR_000207
VAR_000207 disease phenotype-associated
VAR_000207 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000208 commonName VAR_000208
VAR_000208 disease phenotype-associated
VAR_000208 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000209 commonName VAR_000209
VAR_000209 disease phenotype-associated
VAR_000209 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000210 commonName VAR_000210
VAR_000210 disease phenotype-associated
VAR_000210 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000211 commonName VAR_000211
VAR_000211 disease phenotype-associated
VAR_000211 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000212 commonName VAR_000212
VAR_000212 disease not phenotype-associated
VAR_000213 commonName VAR_000213
VAR_000213 disease not phenotype-associated
VAR_000214 commonName VAR_000214
VAR_000214 disease phenotype-associated
VAR_000214 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000215 commonName VAR_000215
VAR_000215 disease phenotype-associated
VAR_000215 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000216 commonName VAR_000216
VAR_000216 disease phenotype-associated
VAR_000216 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000217 commonName VAR_000217
VAR_000217 disease phenotype-associated
VAR_000217 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000218 commonName VAR_000218
VAR_000218 disease phenotype-associated
VAR_000218 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
VAR_000219 commonName VAR_000219
VAR_000219 disease phenotype-associated
VAR_000219 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000220 commonName VAR_000220
VAR_000221 commonName VAR_000221
VAR_000221 disease phenotype-associated
VAR_000221 phenoCommon Cystic fibrosis (CF) [MIM:219700]
VAR_000271 commonName VAR_000271
VAR_000271 disease phenotype-associated
VAR_000271 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000272 commonName VAR_000272
VAR_000272 disease phenotype-associated
VAR_000272 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000273 commonName VAR_000273
VAR_000273 disease phenotype-associated
VAR_000273 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000274 commonName VAR_000274
VAR_000274 disease phenotype-associated
VAR_000274 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000275 commonName VAR_000275
VAR_000275 disease phenotype-associated
VAR_000275 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000276 commonName VAR_000276
VAR_000276 disease phenotype-associated
VAR_000276 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000278 commonName VAR_000278
VAR_000278 disease phenotype-associated
VAR_000278 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000279 commonName VAR_000279
VAR_000279 disease phenotype-associated
VAR_000279 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000280 commonName VAR_000280
VAR_000280 disease phenotype-associated
VAR_000280 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000281 commonName VAR_000281
VAR_000281 disease phenotype-associated
VAR_000281 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_000282 commonName VAR_000282
VAR_000282 disease phenotype-associated
VAR_000282 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000283 commonName VAR_000283
VAR_000283 disease phenotype-associated
VAR_000283 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000284 commonName VAR_000284
VAR_000284 disease phenotype-associated
VAR_000284 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000285 commonName VAR_000285
VAR_000285 disease phenotype-associated
VAR_000285 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000286 commonName VAR_000286
VAR_000286 disease phenotype-associated
VAR_000286 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000287 commonName VAR_000287
VAR_000287 disease phenotype-associated
VAR_000287 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000288 commonName VAR_000288
VAR_000288 disease phenotype-associated
VAR_000288 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000289 commonName VAR_000289
VAR_000289 disease phenotype-associated
VAR_000289 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_000290 commonName VAR_000290
VAR_000290 disease phenotype-associated
VAR_000290 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_000291 commonName VAR_000291
VAR_000291 disease phenotype-associated
VAR_000291 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_000292 commonName VAR_000292
VAR_000292 disease phenotype-associated
VAR_000292 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000293 commonName VAR_000293
VAR_000293 disease phenotype-associated
VAR_000293 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_000294 commonName VAR_000294
VAR_000294 disease phenotype-associated
VAR_000294 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_000295 commonName VAR_000295
VAR_000295 disease phenotype-associated
VAR_000295 phenoCommon Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]
VAR_000296 commonName VAR_000296
VAR_000296 disease phenotype-associated
VAR_000296 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000297 commonName VAR_000297
VAR_000297 disease phenotype-associated
VAR_000297 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000298 commonName VAR_000298
VAR_000298 disease phenotype-associated
VAR_000298 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000299 commonName VAR_000299
VAR_000299 disease phenotype-associated
VAR_000299 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000300 commonName VAR_000300
VAR_000300 disease phenotype-associated
VAR_000300 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000301 commonName VAR_000301
VAR_000301 disease phenotype-associated
VAR_000301 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_000302 commonName VAR_000302
VAR_000302 disease not phenotype-associated
VAR_000303 commonName VAR_000303
VAR_000303 disease not phenotype-associated
VAR_000304 commonName VAR_000304
VAR_000305 commonName VAR_000305
VAR_000306 commonName VAR_000306
VAR_000308 commonName VAR_000308
VAR_000308 disease not phenotype-associated
VAR_000309 commonName VAR_000309
VAR_000310 commonName VAR_000310
VAR_000310 disease phenotype-associated
VAR_000310 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_000311 commonName VAR_000311
VAR_000311 disease phenotype-associated
VAR_000311 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_000312 commonName VAR_000312
VAR_000312 disease phenotype-associated
VAR_000312 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_000314 commonName VAR_000314
VAR_000314 disease phenotype-associated
VAR_000314 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_000315 commonName VAR_000315
VAR_000315 disease not phenotype-associated
VAR_000316 commonName VAR_000316
VAR_000316 disease phenotype-associated
VAR_000316 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_000317 commonName VAR_000317
VAR_000317 disease phenotype-associated
VAR_000317 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_000319 commonName VAR_000319
VAR_000319 disease phenotype-associated
VAR_000319 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_000320 commonName VAR_000320
VAR_000320 disease phenotype-associated
VAR_000320 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_000321 commonName VAR_000321
VAR_000321 disease phenotype-associated
VAR_000321 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_000328 commonName VAR_000328
VAR_000328 disease not phenotype-associated
VAR_000329 commonName VAR_000329
VAR_000329 disease not phenotype-associated
VAR_000330 commonName VAR_000330
VAR_000330 disease not phenotype-associated
VAR_000332 commonName VAR_000332
VAR_000332 disease phenotype-associated
VAR_000332 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000333 commonName VAR_000333
VAR_000333 disease phenotype-associated
VAR_000333 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000334 commonName VAR_000334
VAR_000334 disease phenotype-associated
VAR_000334 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000335 commonName VAR_000335
VAR_000335 disease phenotype-associated
VAR_000335 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000336 commonName VAR_000336
VAR_000336 disease phenotype-associated
VAR_000336 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000337 commonName VAR_000337
VAR_000337 disease phenotype-associated
VAR_000337 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000338 commonName VAR_000338
VAR_000338 disease phenotype-associated
VAR_000338 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000339 commonName VAR_000339
VAR_000339 disease phenotype-associated
VAR_000339 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000341 commonName VAR_000341
VAR_000341 disease phenotype-associated
VAR_000341 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000342 commonName VAR_000342
VAR_000342 disease phenotype-associated
VAR_000342 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000343 commonName VAR_000343
VAR_000343 disease phenotype-associated
VAR_000343 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000344 commonName VAR_000344
VAR_000344 disease phenotype-associated
VAR_000344 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000345 commonName VAR_000345
VAR_000345 disease phenotype-associated
VAR_000345 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000347 commonName VAR_000347
VAR_000347 disease phenotype-associated
VAR_000347 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000348 commonName VAR_000348
VAR_000348 disease phenotype-associated
VAR_000348 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000349 commonName VAR_000349
VAR_000349 disease phenotype-associated
VAR_000349 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000350 commonName VAR_000350
VAR_000350 disease phenotype-associated
VAR_000350 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000352 commonName VAR_000352
VAR_000352 disease phenotype-associated
VAR_000352 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000353 commonName VAR_000353
VAR_000353 disease phenotype-associated
VAR_000353 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000354 commonName VAR_000354
VAR_000354 disease phenotype-associated
VAR_000354 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000355 commonName VAR_000355
VAR_000355 disease phenotype-associated
VAR_000355 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000356 commonName VAR_000356
VAR_000356 disease phenotype-associated
VAR_000356 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000357 commonName VAR_000357
VAR_000357 disease phenotype-associated
VAR_000357 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000358 commonName VAR_000358
VAR_000358 disease phenotype-associated
VAR_000358 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000359 commonName VAR_000359
VAR_000359 disease phenotype-associated
VAR_000359 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000360 commonName VAR_000360
VAR_000360 disease phenotype-associated
VAR_000360 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000361 commonName VAR_000361
VAR_000361 disease phenotype-associated
VAR_000361 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000362 commonName VAR_000362
VAR_000362 disease phenotype-associated
VAR_000362 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000363 commonName VAR_000363
VAR_000363 disease phenotype-associated
VAR_000363 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_000366 commonName VAR_000366
VAR_000366 disease phenotype-associated
VAR_000366 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000367 commonName VAR_000367
VAR_000367 disease phenotype-associated
VAR_000367 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000368 commonName VAR_000368
VAR_000368 disease phenotype-associated
VAR_000368 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000369 commonName VAR_000369
VAR_000369 disease phenotype-associated
VAR_000369 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000370 commonName VAR_000370
VAR_000370 disease phenotype-associated
VAR_000370 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000371 commonName VAR_000371
VAR_000371 disease phenotype-associated
VAR_000371 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000372 commonName VAR_000372
VAR_000372 disease phenotype-associated
VAR_000372 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000373 commonName VAR_000373
VAR_000373 disease phenotype-associated
VAR_000373 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000374 commonName VAR_000374
VAR_000374 disease phenotype-associated
VAR_000374 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000375 commonName VAR_000375
VAR_000375 disease phenotype-associated
VAR_000375 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000376 commonName VAR_000376
VAR_000376 disease phenotype-associated
VAR_000376 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000377 commonName VAR_000377
VAR_000377 disease phenotype-associated
VAR_000377 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000378 commonName VAR_000378
VAR_000378 disease phenotype-associated
VAR_000378 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000379 commonName VAR_000379
VAR_000379 disease phenotype-associated
VAR_000379 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000380 commonName VAR_000380
VAR_000380 disease phenotype-associated
VAR_000380 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000381 commonName VAR_000381
VAR_000381 disease phenotype-associated
VAR_000381 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000382 commonName VAR_000382
VAR_000382 disease phenotype-associated
VAR_000382 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000383 commonName VAR_000383
VAR_000383 disease phenotype-associated
VAR_000383 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000384 commonName VAR_000384
VAR_000384 disease phenotype-associated
VAR_000384 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000385 commonName VAR_000385
VAR_000385 disease phenotype-associated
VAR_000385 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000386 commonName VAR_000386
VAR_000386 disease phenotype-associated
VAR_000386 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000387 commonName VAR_000387
VAR_000387 disease phenotype-associated
VAR_000387 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000388 commonName VAR_000388
VAR_000388 disease phenotype-associated
VAR_000388 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000389 commonName VAR_000389
VAR_000389 disease phenotype-associated
VAR_000389 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000390 commonName VAR_000390
VAR_000390 disease not phenotype-associated
VAR_000391 commonName VAR_000391
VAR_000391 disease not phenotype-associated
VAR_000392 commonName VAR_000392
VAR_000392 disease phenotype-associated
VAR_000392 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000393 commonName VAR_000393
VAR_000393 disease phenotype-associated
VAR_000393 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000394 commonName VAR_000394
VAR_000394 disease phenotype-associated
VAR_000394 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000395 commonName VAR_000395
VAR_000395 disease phenotype-associated
VAR_000395 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000396 commonName VAR_000396
VAR_000396 disease phenotype-associated
VAR_000396 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000397 commonName VAR_000397
VAR_000397 disease phenotype-associated
VAR_000397 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000398 commonName VAR_000398
VAR_000398 disease phenotype-associated
VAR_000398 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000399 commonName VAR_000399
VAR_000399 disease phenotype-associated
VAR_000399 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000400 commonName VAR_000400
VAR_000400 disease phenotype-associated
VAR_000400 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000401 commonName VAR_000401
VAR_000401 disease phenotype-associated
VAR_000401 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000402 commonName VAR_000402
VAR_000402 disease phenotype-associated
VAR_000402 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000403 commonName VAR_000403
VAR_000403 disease phenotype-associated
VAR_000403 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000404 commonName VAR_000404
VAR_000404 disease phenotype-associated
VAR_000404 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000405 commonName VAR_000405
VAR_000405 disease phenotype-associated
VAR_000405 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000406 commonName VAR_000406
VAR_000406 disease phenotype-associated
VAR_000406 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000407 commonName VAR_000407
VAR_000407 disease phenotype-associated
VAR_000407 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000408 commonName VAR_000408
VAR_000408 disease phenotype-associated
VAR_000408 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000409 commonName VAR_000409
VAR_000409 disease phenotype-associated
VAR_000409 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000410 commonName VAR_000410
VAR_000410 disease phenotype-associated
VAR_000410 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000411 commonName VAR_000411
VAR_000411 disease phenotype-associated
VAR_000411 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000412 commonName VAR_000412
VAR_000412 disease phenotype-associated
VAR_000412 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000413 commonName VAR_000413
VAR_000413 disease phenotype-associated
VAR_000413 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000414 commonName VAR_000414
VAR_000414 disease phenotype-associated
VAR_000414 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000415 commonName VAR_000415
VAR_000415 disease phenotype-associated
VAR_000415 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000416 commonName VAR_000416
VAR_000416 disease phenotype-associated
VAR_000416 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000417 commonName VAR_000417
VAR_000417 disease phenotype-associated
VAR_000417 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000418 commonName VAR_000418
VAR_000418 disease phenotype-associated
VAR_000418 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000419 commonName VAR_000419
VAR_000419 disease phenotype-associated
VAR_000419 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000420 commonName VAR_000420
VAR_000420 disease phenotype-associated
VAR_000420 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000421 commonName VAR_000421
VAR_000421 disease phenotype-associated
VAR_000421 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000422 commonName VAR_000422
VAR_000422 disease phenotype-associated
VAR_000422 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_000423 commonName VAR_000423
VAR_000423 disease phenotype-associated
VAR_000423 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_000424 commonName VAR_000424
VAR_000424 disease phenotype-associated
VAR_000424 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_000426 commonName VAR_000426
VAR_000426 disease not phenotype-associated
VAR_000430 commonName VAR_000430
VAR_000430 disease not phenotype-associated
VAR_000431 commonName VAR_000431
VAR_000431 disease phenotype-associated
VAR_000431 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000432 commonName VAR_000432
VAR_000432 disease phenotype-associated
VAR_000432 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000433 commonName VAR_000433
VAR_000433 disease phenotype-associated
VAR_000433 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000434 commonName VAR_000434
VAR_000434 disease phenotype-associated
VAR_000434 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000435 commonName VAR_000435
VAR_000435 disease phenotype-associated
VAR_000435 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000436 commonName VAR_000436
VAR_000436 disease phenotype-associated
VAR_000436 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000437 commonName VAR_000437
VAR_000437 disease phenotype-associated
VAR_000437 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000438 commonName VAR_000438
VAR_000438 disease phenotype-associated
VAR_000438 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000439 commonName VAR_000439
VAR_000439 disease phenotype-associated
VAR_000439 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000440 commonName VAR_000440
VAR_000440 disease phenotype-associated
VAR_000440 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000441 commonName VAR_000441
VAR_000441 disease phenotype-associated
VAR_000441 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000442 commonName VAR_000442
VAR_000442 disease phenotype-associated
VAR_000442 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000443 commonName VAR_000443
VAR_000443 disease phenotype-associated
VAR_000443 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000444 commonName VAR_000444
VAR_000444 disease phenotype-associated
VAR_000444 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000445 commonName VAR_000445
VAR_000445 disease phenotype-associated
VAR_000445 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000447 commonName VAR_000447
VAR_000447 disease phenotype-associated
VAR_000447 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000448 commonName VAR_000448
VAR_000448 disease phenotype-associated
VAR_000448 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000450 commonName VAR_000450
VAR_000450 disease phenotype-associated
VAR_000450 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000451 commonName VAR_000451
VAR_000451 disease phenotype-associated
VAR_000451 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000452 commonName VAR_000452
VAR_000452 disease phenotype-associated
VAR_000452 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000453 commonName VAR_000453
VAR_000453 disease phenotype-associated
VAR_000453 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000454 commonName VAR_000454
VAR_000454 disease phenotype-associated
VAR_000454 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000455 commonName VAR_000455
VAR_000455 disease phenotype-associated
VAR_000455 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000456 commonName VAR_000456
VAR_000456 disease phenotype-associated
VAR_000456 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000457 commonName VAR_000457
VAR_000457 disease phenotype-associated
VAR_000457 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000458 commonName VAR_000458
VAR_000458 disease phenotype-associated
VAR_000458 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000459 commonName VAR_000459
VAR_000459 disease phenotype-associated
VAR_000459 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000460 commonName VAR_000460
VAR_000460 disease phenotype-associated
VAR_000460 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000461 commonName VAR_000461
VAR_000461 disease phenotype-associated
VAR_000461 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000462 commonName VAR_000462
VAR_000462 disease phenotype-associated
VAR_000462 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000463 commonName VAR_000463
VAR_000463 disease phenotype-associated
VAR_000463 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000464 commonName VAR_000464
VAR_000464 disease phenotype-associated
VAR_000464 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000465 commonName VAR_000465
VAR_000465 disease phenotype-associated
VAR_000465 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000466 commonName VAR_000466
VAR_000466 disease phenotype-associated
VAR_000466 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000467 commonName VAR_000467
VAR_000467 disease phenotype-associated
VAR_000467 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000468 commonName VAR_000468
VAR_000468 disease phenotype-associated
VAR_000468 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000469 commonName VAR_000469
VAR_000469 disease phenotype-associated
VAR_000469 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000471 commonName VAR_000471
VAR_000471 disease phenotype-associated
VAR_000471 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000472 commonName VAR_000472
VAR_000472 disease phenotype-associated
VAR_000472 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000473 commonName VAR_000473
VAR_000473 disease phenotype-associated
VAR_000473 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000474 commonName VAR_000474
VAR_000474 disease phenotype-associated
VAR_000474 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000475 commonName VAR_000475
VAR_000475 disease phenotype-associated
VAR_000475 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000476 commonName VAR_000476
VAR_000476 disease phenotype-associated
VAR_000476 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000477 commonName VAR_000477
VAR_000477 disease phenotype-associated
VAR_000477 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000478 commonName VAR_000478
VAR_000478 disease phenotype-associated
VAR_000478 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000479 commonName VAR_000479
VAR_000479 disease phenotype-associated
VAR_000479 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000480 commonName VAR_000480
VAR_000480 disease phenotype-associated
VAR_000480 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000481 commonName VAR_000481
VAR_000481 disease phenotype-associated
VAR_000481 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000482 commonName VAR_000482
VAR_000482 disease phenotype-associated
VAR_000482 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000483 commonName VAR_000483
VAR_000483 disease phenotype-associated
VAR_000483 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000484 commonName VAR_000484
VAR_000484 disease phenotype-associated
VAR_000484 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000485 commonName VAR_000485
VAR_000485 disease phenotype-associated
VAR_000485 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000486 commonName VAR_000486
VAR_000486 disease phenotype-associated
VAR_000486 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000487 commonName VAR_000487
VAR_000487 disease phenotype-associated
VAR_000487 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000488 commonName VAR_000488
VAR_000488 disease phenotype-associated
VAR_000488 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000489 commonName VAR_000489
VAR_000489 disease phenotype-associated
VAR_000489 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000491 commonName VAR_000491
VAR_000491 disease phenotype-associated
VAR_000491 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_000493 commonName VAR_000493
VAR_000496 commonName VAR_000496
VAR_000496 disease phenotype-associated
VAR_000496 phenoCommon Schindler disease (SCHIND) [MIM:609241]
VAR_000497 commonName VAR_000497
VAR_000497 disease phenotype-associated
VAR_000497 phenoCommon Schindler disease (SCHIND) [MIM:609241]
VAR_000498 commonName VAR_000498
VAR_000498 disease phenotype-associated
VAR_000498 phenoCommon Kanzaki disease (KANZD) [MIM:609242]
VAR_000499 commonName VAR_000499
VAR_000500 commonName VAR_000500
VAR_000501 commonName VAR_000501
VAR_000502 commonName VAR_000502
VAR_000503 commonName VAR_000503
VAR_000504 commonName VAR_000504
VAR_000505 commonName VAR_000505
VAR_000506 commonName VAR_000506
VAR_000507 commonName VAR_000507
VAR_000508 commonName VAR_000508
VAR_000509 commonName VAR_000509
VAR_000510 commonName VAR_000510
VAR_000511 commonName VAR_000511
VAR_000512 commonName VAR_000512
VAR_000513 commonName VAR_000513
VAR_000514 commonName VAR_000514
VAR_000514 disease phenotype-associated
VAR_000514 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
VAR_000515 commonName VAR_000515
VAR_000516 commonName VAR_000516
VAR_000517 commonName VAR_000517
VAR_000518 commonName VAR_000518
VAR_000519 commonName VAR_000519
VAR_000520 commonName VAR_000520
VAR_000521 commonName VAR_000521
VAR_000522 commonName VAR_000522
VAR_000523 commonName VAR_000523
VAR_000524 commonName VAR_000524
VAR_000525 commonName VAR_000525
VAR_000526 commonName VAR_000526
VAR_000527 commonName VAR_000527
VAR_000528 commonName VAR_000528
VAR_000529 commonName VAR_000529
VAR_000530 commonName VAR_000530
VAR_000531 commonName VAR_000531
VAR_000532 commonName VAR_000532
VAR_000533 commonName VAR_000533
VAR_000550 commonName VAR_000550
VAR_000550 disease phenotype-associated
VAR_000550 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881]
VAR_000551 commonName VAR_000551
VAR_000551 disease phenotype-associated
VAR_000551 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000552 commonName VAR_000552
VAR_000553 commonName VAR_000553
VAR_000553 disease phenotype-associated
VAR_000553 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000554 commonName VAR_000554
VAR_000554 disease phenotype-associated
VAR_000554 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000555 commonName VAR_000555
VAR_000555 disease phenotype-associated
VAR_000555 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000556 commonName VAR_000556
VAR_000556 disease phenotype-associated
VAR_000556 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000557 commonName VAR_000557
VAR_000557 disease phenotype-associated
VAR_000557 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000558 commonName VAR_000558
VAR_000558 disease phenotype-associated
VAR_000558 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_000560 commonName VAR_000560
VAR_000560 disease phenotype-associated
VAR_000560 phenoCommon Tyrosinemia type 2 (TYRO2) [MIM:276600]
VAR_000561 commonName VAR_000561
VAR_000561 disease not phenotype-associated
VAR_000562 commonName VAR_000562
VAR_000562 disease phenotype-associated
VAR_000562 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_000563 commonName VAR_000563
VAR_000563 disease phenotype-associated
VAR_000563 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_000564 commonName VAR_000564
VAR_000564 disease phenotype-associated
VAR_000564 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_000565 commonName VAR_000565
VAR_000565 disease phenotype-associated
VAR_000565 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000566 commonName VAR_000566
VAR_000566 disease phenotype-associated
VAR_000566 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000567 commonName VAR_000567
VAR_000567 disease phenotype-associated
VAR_000567 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000568 commonName VAR_000568
VAR_000568 disease phenotype-associated
VAR_000568 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000569 commonName VAR_000569
VAR_000569 disease phenotype-associated
VAR_000569 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000570 commonName VAR_000570
VAR_000570 disease phenotype-associated
VAR_000570 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000572 commonName VAR_000572
VAR_000572 disease phenotype-associated
VAR_000572 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000573 commonName VAR_000573
VAR_000573 disease phenotype-associated
VAR_000573 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000574 commonName VAR_000574
VAR_000574 disease phenotype-associated
VAR_000574 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000575 commonName VAR_000575
VAR_000575 disease phenotype-associated
VAR_000575 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000576 commonName VAR_000576
VAR_000576 disease phenotype-associated
VAR_000576 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000577 commonName VAR_000577
VAR_000577 disease phenotype-associated
VAR_000577 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000578 commonName VAR_000578
VAR_000578 disease phenotype-associated
VAR_000578 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_000587 commonName VAR_000587
VAR_000587 disease not phenotype-associated
VAR_000588 commonName VAR_000588
VAR_000588 disease phenotype-associated
VAR_000588 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_000589 commonName VAR_000589
VAR_000589 disease phenotype-associated
VAR_000589 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_000590 commonName VAR_000590
VAR_000590 disease phenotype-associated
VAR_000590 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_000591 commonName VAR_000591
VAR_000591 disease phenotype-associated
VAR_000591 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_000595 commonName VAR_000595
VAR_000595 disease not phenotype-associated
VAR_000596 commonName VAR_000596
VAR_000596 disease phenotype-associated
VAR_000596 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900]
VAR_000597 commonName VAR_000597
VAR_000597 disease not phenotype-associated
VAR_000598 commonName VAR_000598
VAR_000598 disease not phenotype-associated
VAR_000599 commonName VAR_000599
VAR_000599 disease not phenotype-associated
VAR_000600 commonName VAR_000600
VAR_000600 disease not phenotype-associated
VAR_000601 commonName VAR_000601
VAR_000601 disease not phenotype-associated
VAR_000602 commonName VAR_000602
VAR_000605 commonName VAR_000605
VAR_000606 commonName VAR_000606
VAR_000606 disease not phenotype-associated
VAR_000607 commonName VAR_000607
VAR_000608 commonName VAR_000608
VAR_000608 disease not phenotype-associated
VAR_000609 commonName VAR_000609
VAR_000609 disease phenotype-associated
VAR_000609 phenoCommon Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA)
VAR_000610 commonName VAR_000610
VAR_000610 disease phenotype-associated
VAR_000610 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200]
VAR_000611 commonName VAR_000611
VAR_000611 disease not phenotype-associated
VAR_000612 commonName VAR_000612
VAR_000613 commonName VAR_000613
VAR_000615 commonName VAR_000615
VAR_000615 disease not phenotype-associated
VAR_000616 commonName VAR_000616
VAR_000617 commonName VAR_000617
VAR_000618 commonName VAR_000618
VAR_000619 commonName VAR_000619
VAR_000619 disease not phenotype-associated
VAR_000620 commonName VAR_000620
VAR_000621 commonName VAR_000621
VAR_000622 commonName VAR_000622
VAR_000622 disease not phenotype-associated
VAR_000623 commonName VAR_000623
VAR_000623 disease not phenotype-associated
VAR_000624 commonName VAR_000624
VAR_000624 disease not phenotype-associated
VAR_000625 commonName VAR_000625
VAR_000626 commonName VAR_000626
VAR_000626 disease not phenotype-associated
VAR_000627 commonName VAR_000627
VAR_000628 commonName VAR_000628
VAR_000628 disease not phenotype-associated
VAR_000629 commonName VAR_000629
VAR_000630 commonName VAR_000630
VAR_000631 commonName VAR_000631
VAR_000631 disease not phenotype-associated
VAR_000632 commonName VAR_000632
VAR_000632 disease not phenotype-associated
VAR_000633 commonName VAR_000633
VAR_000633 disease not phenotype-associated
VAR_000634 commonName VAR_000634
VAR_000634 disease not phenotype-associated
VAR_000635 commonName VAR_000635
VAR_000636 commonName VAR_000636
VAR_000636 disease not phenotype-associated
VAR_000637 commonName VAR_000637
VAR_000637 disease not phenotype-associated
VAR_000643 commonName VAR_000643
VAR_000643 disease phenotype-associated
VAR_000643 phenoCommon Hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]
VAR_000644 commonName VAR_000644
VAR_000645 commonName VAR_000645
VAR_000645 disease not phenotype-associated
VAR_000646 commonName VAR_000646
VAR_000646 disease phenotype-associated
VAR_000646 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000647 commonName VAR_000647
VAR_000647 disease not phenotype-associated
VAR_000648 commonName VAR_000648
VAR_000648 disease not phenotype-associated
VAR_000649 commonName VAR_000649
VAR_000649 disease not phenotype-associated
VAR_000650 commonName VAR_000650
VAR_000650 disease not phenotype-associated
VAR_000651 commonName VAR_000651
VAR_000651 disease not phenotype-associated
VAR_000652 commonName VAR_000652
VAR_000652 disease phenotype-associated
VAR_000652 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000653 commonName VAR_000653
VAR_000653 disease not phenotype-associated
VAR_000655 commonName VAR_000655
VAR_000655 disease not phenotype-associated
VAR_000656 commonName VAR_000656
VAR_000656 disease phenotype-associated
VAR_000656 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000657 commonName VAR_000657
VAR_000657 disease phenotype-associated
VAR_000657 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000658 commonName VAR_000658
VAR_000658 disease phenotype-associated
VAR_000658 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000659 commonName VAR_000659
VAR_000659 disease phenotype-associated
VAR_000659 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000660 commonName VAR_000660
VAR_000661 commonName VAR_000661
VAR_000661 disease phenotype-associated
VAR_000661 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000662 commonName VAR_000662
VAR_000662 disease phenotype-associated
VAR_000662 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000663 commonName VAR_000663
VAR_000663 disease not phenotype-associated
VAR_000664 commonName VAR_000664
VAR_000664 disease phenotype-associated
VAR_000664 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
VAR_000665 commonName VAR_000665
VAR_000665 disease not phenotype-associated
VAR_000666 commonName VAR_000666
VAR_000666 disease not phenotype-associated
VAR_000667 commonName VAR_000667
VAR_000667 disease not phenotype-associated
VAR_000669 commonName VAR_000669
VAR_000669 disease not phenotype-associated
VAR_000670 commonName VAR_000670
VAR_000670 disease not phenotype-associated
VAR_000671 commonName VAR_000671
VAR_000671 disease not phenotype-associated
VAR_000672 commonName VAR_000672
VAR_000672 disease not phenotype-associated
VAR_000673 commonName VAR_000673
VAR_000673 disease not phenotype-associated
VAR_000676 commonName VAR_000676
VAR_000676 disease phenotype-associated
VAR_000676 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_000677 commonName VAR_000677
VAR_000677 disease phenotype-associated
VAR_000677 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_000678 commonName VAR_000678
VAR_000678 disease phenotype-associated
VAR_000678 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_000679 commonName VAR_000679
VAR_000679 disease phenotype-associated
VAR_000679 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_000680 commonName VAR_000680
VAR_000680 disease phenotype-associated
VAR_000680 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_000681 commonName VAR_000681
VAR_000681 disease phenotype-associated
VAR_000681 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000682 commonName VAR_000682
VAR_000682 disease phenotype-associated
VAR_000682 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000683 commonName VAR_000683
VAR_000683 disease phenotype-associated
VAR_000683 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000684 commonName VAR_000684
VAR_000684 disease phenotype-associated
VAR_000684 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000685 commonName VAR_000685
VAR_000685 disease phenotype-associated
VAR_000685 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000686 commonName VAR_000686
VAR_000686 disease phenotype-associated
VAR_000686 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000687 commonName VAR_000687
VAR_000687 disease phenotype-associated
VAR_000687 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000688 commonName VAR_000688
VAR_000688 disease phenotype-associated
VAR_000688 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000689 commonName VAR_000689
VAR_000689 disease phenotype-associated
VAR_000689 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000690 commonName VAR_000690
VAR_000690 disease phenotype-associated
VAR_000690 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000691 commonName VAR_000691
VAR_000691 disease phenotype-associated
VAR_000691 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000692 commonName VAR_000692
VAR_000692 disease phenotype-associated
VAR_000692 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000693 commonName VAR_000693
VAR_000693 disease phenotype-associated
VAR_000693 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000694 commonName VAR_000694
VAR_000694 disease phenotype-associated
VAR_000694 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_000695 commonName VAR_000695
VAR_000695 disease not phenotype-associated
VAR_000696 commonName VAR_000696
VAR_000696 disease phenotype-associated
VAR_000696 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_000697 commonName VAR_000697
VAR_000697 disease phenotype-associated
VAR_000697 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_000699 commonName VAR_000699
VAR_000699 disease phenotype-associated
VAR_000699 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_000700 commonName VAR_000700
VAR_000700 disease phenotype-associated
VAR_000700 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_000701 commonName VAR_000701
VAR_000701 disease phenotype-associated
VAR_000701 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_000702 commonName VAR_000702
VAR_000702 disease phenotype-associated
VAR_000702 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_000703 commonName VAR_000703
VAR_000703 disease phenotype-associated
VAR_000703 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000704 commonName VAR_000704
VAR_000704 disease not phenotype-associated
VAR_000705 commonName VAR_000705
VAR_000705 disease not phenotype-associated
VAR_000706 commonName VAR_000706
VAR_000706 disease not phenotype-associated
VAR_000707 commonName VAR_000707
VAR_000707 disease not phenotype-associated
VAR_000708 commonName VAR_000708
VAR_000708 disease not phenotype-associated
VAR_000709 commonName VAR_000709
VAR_000709 disease not phenotype-associated
VAR_000710 commonName VAR_000710
VAR_000710 disease phenotype-associated
VAR_000710 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000711 commonName VAR_000711
VAR_000711 disease not phenotype-associated
VAR_000712 commonName VAR_000712
VAR_000712 disease phenotype-associated
VAR_000712 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000713 commonName VAR_000713
VAR_000713 disease phenotype-associated
VAR_000713 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000714 commonName VAR_000714
VAR_000714 disease phenotype-associated
VAR_000714 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000715 commonName VAR_000715
VAR_000715 disease phenotype-associated
VAR_000715 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000716 commonName VAR_000716
VAR_000716 disease phenotype-associated
VAR_000716 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000717 commonName VAR_000717
VAR_000717 disease phenotype-associated
VAR_000717 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000718 commonName VAR_000718
VAR_000718 disease phenotype-associated
VAR_000718 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000719 commonName VAR_000719
VAR_000719 disease phenotype-associated
VAR_000719 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000720 commonName VAR_000720
VAR_000720 disease phenotype-associated
VAR_000720 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000721 commonName VAR_000721
VAR_000721 disease phenotype-associated
VAR_000721 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_000722 commonName VAR_000722
VAR_000722 disease not phenotype-associated
VAR_000798 commonName VAR_000798
VAR_000798 disease not phenotype-associated
VAR_000799 commonName VAR_000799
VAR_000799 disease not phenotype-associated
VAR_000800 commonName VAR_000800
VAR_000800 disease phenotype-associated
VAR_000800 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_000802 commonName VAR_000802
VAR_000802 disease phenotype-associated
VAR_000802 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_000809 commonName VAR_000809
VAR_000810 commonName VAR_000810
VAR_000810 disease phenotype-associated
VAR_000810 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000811 commonName VAR_000811
VAR_000813 commonName VAR_000813
VAR_000813 disease phenotype-associated
VAR_000813 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000814 commonName VAR_000814
VAR_000817 commonName VAR_000817
VAR_000818 commonName VAR_000818
VAR_000818 disease phenotype-associated
VAR_000818 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000819 comment Breast ductal carcinoma
VAR_000819 commonName VAR_000819
VAR_000820 commonName VAR_000820
VAR_000821 commonName VAR_000821
VAR_000821 disease phenotype-associated
VAR_000821 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000822 commonName VAR_000822
VAR_000822 disease phenotype-associated
VAR_000822 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000823 comment Melanoma
VAR_000823 commonName VAR_000823
VAR_000824 commonName VAR_000824
VAR_000825 commonName VAR_000825
VAR_000825 disease phenotype-associated
VAR_000825 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000826 commonName VAR_000826
VAR_000826 disease phenotype-associated
VAR_000826 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_000827 commonName VAR_000827
VAR_000827 disease not phenotype-associated
VAR_000828 comment Non-Hodgkin lymphoma
VAR_000828 commonName VAR_000828
VAR_000829 comment Non-Hodgkin lymphoma
VAR_000829 commonName VAR_000829
VAR_000830 commonName VAR_000830
VAR_000830 disease phenotype-associated
VAR_000830 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_000830 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000831 commonName VAR_000831
VAR_000831 disease phenotype-associated
VAR_000831 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000832 commonName VAR_000832
VAR_000832 disease phenotype-associated
VAR_000832 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000833 commonName VAR_000833
VAR_000833 disease phenotype-associated
VAR_000833 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000834 commonName VAR_000834
VAR_000834 disease phenotype-associated
VAR_000834 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000835 commonName VAR_000835
VAR_000835 disease phenotype-associated
VAR_000835 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000836 commonName VAR_000836
VAR_000836 disease phenotype-associated
VAR_000836 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000837 commonName VAR_000837
VAR_000837 disease phenotype-associated
VAR_000837 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000838 commonName VAR_000838
VAR_000838 disease phenotype-associated
VAR_000838 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000839 commonName VAR_000839
VAR_000839 disease phenotype-associated
VAR_000839 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000840 commonName VAR_000840
VAR_000840 disease not phenotype-associated
VAR_000841 commonName VAR_000841
VAR_000841 disease phenotype-associated
VAR_000841 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000842 commonName VAR_000842
VAR_000842 disease phenotype-associated
VAR_000842 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000843 commonName VAR_000843
VAR_000843 disease phenotype-associated
VAR_000843 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000844 commonName VAR_000844
VAR_000844 disease phenotype-associated
VAR_000844 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000845 commonName VAR_000845
VAR_000845 disease phenotype-associated
VAR_000845 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000846 commonName VAR_000846
VAR_000846 disease phenotype-associated
VAR_000846 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000847 commonName VAR_000847
VAR_000847 disease phenotype-associated
VAR_000847 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_000847 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000848 commonName VAR_000848
VAR_000848 disease phenotype-associated
VAR_000848 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000849 commonName VAR_000849
VAR_000849 disease phenotype-associated
VAR_000849 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000850 commonName VAR_000850
VAR_000850 disease phenotype-associated
VAR_000850 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000851 commonName VAR_000851
VAR_000851 disease phenotype-associated
VAR_000851 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000852 commonName VAR_000852
VAR_000852 disease phenotype-associated
VAR_000852 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000853 commonName VAR_000853
VAR_000853 disease phenotype-associated
VAR_000853 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194]
VAR_000854 commonName VAR_000854
VAR_000854 disease phenotype-associated
VAR_000854 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000855 commonName VAR_000855
VAR_000855 disease phenotype-associated
VAR_000855 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000856 commonName VAR_000856
VAR_000856 disease phenotype-associated
VAR_000856 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000857 commonName VAR_000857
VAR_000857 disease phenotype-associated
VAR_000857 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000858 commonName VAR_000858
VAR_000858 disease phenotype-associated
VAR_000858 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_000858 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000860 commonName VAR_000860
VAR_000860 disease phenotype-associated
VAR_000860 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000861 commonName VAR_000861
VAR_000861 disease phenotype-associated
VAR_000861 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000862 commonName VAR_000862
VAR_000862 disease phenotype-associated
VAR_000862 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000863 commonName VAR_000863
VAR_000863 disease phenotype-associated
VAR_000863 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000864 commonName VAR_000864
VAR_000864 disease phenotype-associated
VAR_000864 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000865 commonName VAR_000865
VAR_000865 disease phenotype-associated
VAR_000865 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000866 commonName VAR_000866
VAR_000866 disease phenotype-associated
VAR_000866 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000867 commonName VAR_000867
VAR_000867 disease phenotype-associated
VAR_000867 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_000868 commonName VAR_000868
VAR_000868 disease phenotype-associated
VAR_000868 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_000868 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_000869 commonName VAR_000869
VAR_000869 disease phenotype-associated
VAR_000869 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000870 commonName VAR_000870
VAR_000870 disease phenotype-associated
VAR_000870 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_000870 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000872 commonName VAR_000872
VAR_000872 disease phenotype-associated
VAR_000872 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000873 commonName VAR_000873
VAR_000873 disease phenotype-associated
VAR_000873 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000874 commonName VAR_000874
VAR_000874 disease phenotype-associated
VAR_000874 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000875 commonName VAR_000875
VAR_000875 disease phenotype-associated
VAR_000875 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000876 commonName VAR_000876
VAR_000876 disease phenotype-associated
VAR_000876 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000877 commonName VAR_000877
VAR_000877 disease phenotype-associated
VAR_000877 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000878 commonName VAR_000878
VAR_000878 disease phenotype-associated
VAR_000878 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000879 commonName VAR_000879
VAR_000879 disease phenotype-associated
VAR_000879 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_000879 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000880 commonName VAR_000880
VAR_000880 disease phenotype-associated
VAR_000880 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000882 commonName VAR_000882
VAR_000882 disease phenotype-associated
VAR_000882 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000883 commonName VAR_000883
VAR_000883 disease phenotype-associated
VAR_000883 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000884 commonName VAR_000884
VAR_000884 disease phenotype-associated
VAR_000884 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000885 commonName VAR_000885
VAR_000885 disease phenotype-associated
VAR_000885 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000886 commonName VAR_000886
VAR_000886 disease phenotype-associated
VAR_000886 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000887 commonName VAR_000887
VAR_000887 disease phenotype-associated
VAR_000887 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000888 commonName VAR_000888
VAR_000888 disease phenotype-associated
VAR_000888 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000889 commonName VAR_000889
VAR_000889 disease phenotype-associated
VAR_000889 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000891 commonName VAR_000891
VAR_000891 disease phenotype-associated
VAR_000891 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000892 commonName VAR_000892
VAR_000892 disease phenotype-associated
VAR_000892 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000893 commonName VAR_000893
VAR_000893 disease phenotype-associated
VAR_000893 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000894 commonName VAR_000894
VAR_000894 disease phenotype-associated
VAR_000894 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000895 commonName VAR_000895
VAR_000895 disease phenotype-associated
VAR_000895 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000896 commonName VAR_000896
VAR_000896 disease phenotype-associated
VAR_000896 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000897 commonName VAR_000897
VAR_000897 disease phenotype-associated
VAR_000897 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000898 commonName VAR_000898
VAR_000898 disease phenotype-associated
VAR_000898 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000899 commonName VAR_000899
VAR_000899 disease phenotype-associated
VAR_000899 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000900 commonName VAR_000900
VAR_000900 disease phenotype-associated
VAR_000900 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000901 commonName VAR_000901
VAR_000901 disease phenotype-associated
VAR_000901 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000902 commonName VAR_000902
VAR_000902 disease phenotype-associated
VAR_000902 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000903 commonName VAR_000903
VAR_000903 disease phenotype-associated
VAR_000903 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000904 commonName VAR_000904
VAR_000904 disease phenotype-associated
VAR_000904 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000905 commonName VAR_000905
VAR_000905 disease phenotype-associated
VAR_000905 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000906 commonName VAR_000906
VAR_000906 disease phenotype-associated
VAR_000906 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000907 commonName VAR_000907
VAR_000907 disease phenotype-associated
VAR_000907 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000908 commonName VAR_000908
VAR_000908 disease phenotype-associated
VAR_000908 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000909 commonName VAR_000909
VAR_000909 disease phenotype-associated
VAR_000909 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000910 commonName VAR_000910
VAR_000910 disease phenotype-associated
VAR_000910 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000911 commonName VAR_000911
VAR_000911 disease phenotype-associated
VAR_000911 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000912 commonName VAR_000912
VAR_000912 disease phenotype-associated
VAR_000912 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000913 commonName VAR_000913
VAR_000913 disease phenotype-associated
VAR_000913 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000914 commonName VAR_000914
VAR_000914 disease phenotype-associated
VAR_000914 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000915 commonName VAR_000915
VAR_000915 disease phenotype-associated
VAR_000915 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000916 commonName VAR_000916
VAR_000916 disease phenotype-associated
VAR_000916 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000917 commonName VAR_000917
VAR_000917 disease phenotype-associated
VAR_000917 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000918 commonName VAR_000918
VAR_000918 disease phenotype-associated
VAR_000918 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000922 commonName VAR_000922
VAR_000922 disease phenotype-associated
VAR_000922 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000923 commonName VAR_000923
VAR_000923 disease phenotype-associated
VAR_000923 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000924 commonName VAR_000924
VAR_000924 disease phenotype-associated
VAR_000924 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000925 commonName VAR_000925
VAR_000925 disease phenotype-associated
VAR_000925 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000926 commonName VAR_000926
VAR_000926 disease phenotype-associated
VAR_000926 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000927 commonName VAR_000927
VAR_000927 disease phenotype-associated
VAR_000927 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000928 commonName VAR_000928
VAR_000928 disease phenotype-associated
VAR_000928 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000929 commonName VAR_000929
VAR_000929 disease phenotype-associated
VAR_000929 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000930 commonName VAR_000930
VAR_000930 disease phenotype-associated
VAR_000930 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000931 commonName VAR_000931
VAR_000931 disease phenotype-associated
VAR_000931 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000932 commonName VAR_000932
VAR_000932 disease phenotype-associated
VAR_000932 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000933 commonName VAR_000933
VAR_000933 disease phenotype-associated
VAR_000933 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000934 commonName VAR_000934
VAR_000934 disease phenotype-associated
VAR_000934 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000935 commonName VAR_000935
VAR_000935 disease phenotype-associated
VAR_000935 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000936 commonName VAR_000936
VAR_000936 disease phenotype-associated
VAR_000936 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000937 commonName VAR_000937
VAR_000937 disease phenotype-associated
VAR_000937 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000938 commonName VAR_000938
VAR_000938 disease phenotype-associated
VAR_000938 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000939 commonName VAR_000939
VAR_000939 disease phenotype-associated
VAR_000939 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000940 commonName VAR_000940
VAR_000940 disease phenotype-associated
VAR_000940 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000941 commonName VAR_000941
VAR_000941 disease phenotype-associated
VAR_000941 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000942 commonName VAR_000942
VAR_000942 disease phenotype-associated
VAR_000942 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000943 commonName VAR_000943
VAR_000943 disease phenotype-associated
VAR_000943 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000943 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000944 commonName VAR_000944
VAR_000944 disease phenotype-associated
VAR_000944 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000945 commonName VAR_000945
VAR_000945 disease phenotype-associated
VAR_000945 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000946 commonName VAR_000946
VAR_000946 disease phenotype-associated
VAR_000946 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000947 commonName VAR_000947
VAR_000947 disease phenotype-associated
VAR_000947 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000947 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000948 commonName VAR_000948
VAR_000948 disease phenotype-associated
VAR_000948 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000949 commonName VAR_000949
VAR_000949 disease phenotype-associated
VAR_000949 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_000949 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000949 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000950 commonName VAR_000950
VAR_000950 disease phenotype-associated
VAR_000950 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000951 commonName VAR_000951
VAR_000951 disease phenotype-associated
VAR_000951 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000952 commonName VAR_000952
VAR_000952 disease phenotype-associated
VAR_000952 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000953 commonName VAR_000953
VAR_000953 disease phenotype-associated
VAR_000953 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000954 commonName VAR_000954
VAR_000954 disease phenotype-associated
VAR_000954 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000955 commonName VAR_000955
VAR_000955 disease phenotype-associated
VAR_000955 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000956 commonName VAR_000956
VAR_000956 disease phenotype-associated
VAR_000956 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000957 commonName VAR_000957
VAR_000957 disease phenotype-associated
VAR_000957 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000958 commonName VAR_000958
VAR_000958 disease phenotype-associated
VAR_000958 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000959 commonName VAR_000959
VAR_000959 disease phenotype-associated
VAR_000959 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000960 commonName VAR_000960
VAR_000960 disease phenotype-associated
VAR_000960 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000961 commonName VAR_000961
VAR_000961 disease phenotype-associated
VAR_000961 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000962 commonName VAR_000962
VAR_000962 disease phenotype-associated
VAR_000962 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000963 commonName VAR_000963
VAR_000963 disease phenotype-associated
VAR_000963 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000964 commonName VAR_000964
VAR_000964 disease phenotype-associated
VAR_000964 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000965 commonName VAR_000965
VAR_000965 disease phenotype-associated
VAR_000965 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_000965 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000966 commonName VAR_000966
VAR_000966 disease phenotype-associated
VAR_000966 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000967 commonName VAR_000967
VAR_000967 disease phenotype-associated
VAR_000967 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000968 commonName VAR_000968
VAR_000968 disease phenotype-associated
VAR_000968 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000969 commonName VAR_000969
VAR_000969 disease phenotype-associated
VAR_000969 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000970 commonName VAR_000970
VAR_000970 disease phenotype-associated
VAR_000970 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000971 commonName VAR_000971
VAR_000971 disease phenotype-associated
VAR_000971 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000972 commonName VAR_000972
VAR_000972 disease phenotype-associated
VAR_000972 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000973 commonName VAR_000973
VAR_000973 disease phenotype-associated
VAR_000973 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000974 commonName VAR_000974
VAR_000974 disease phenotype-associated
VAR_000974 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000975 commonName VAR_000975
VAR_000975 disease phenotype-associated
VAR_000975 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000976 commonName VAR_000976
VAR_000976 disease phenotype-associated
VAR_000976 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000977 commonName VAR_000977
VAR_000977 disease phenotype-associated
VAR_000977 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000978 commonName VAR_000978
VAR_000978 disease phenotype-associated
VAR_000978 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000979 commonName VAR_000979
VAR_000979 disease phenotype-associated
VAR_000979 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000980 commonName VAR_000980
VAR_000980 disease phenotype-associated
VAR_000980 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000981 commonName VAR_000981
VAR_000981 disease phenotype-associated
VAR_000981 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000982 commonName VAR_000982
VAR_000982 disease phenotype-associated
VAR_000982 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000983 commonName VAR_000983
VAR_000983 disease phenotype-associated
VAR_000983 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000984 commonName VAR_000984
VAR_000984 disease phenotype-associated
VAR_000984 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000985 commonName VAR_000985
VAR_000985 disease phenotype-associated
VAR_000985 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000986 commonName VAR_000986
VAR_000986 disease phenotype-associated
VAR_000986 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000987 commonName VAR_000987
VAR_000987 disease phenotype-associated
VAR_000987 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000988 commonName VAR_000988
VAR_000988 disease phenotype-associated
VAR_000988 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000989 commonName VAR_000989
VAR_000989 disease phenotype-associated
VAR_000989 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000990 commonName VAR_000990
VAR_000990 disease phenotype-associated
VAR_000990 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000991 commonName VAR_000991
VAR_000991 disease phenotype-associated
VAR_000991 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000992 commonName VAR_000992
VAR_000992 disease phenotype-associated
VAR_000992 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_000993 commonName VAR_000993
VAR_000993 disease phenotype-associated
VAR_000993 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000994 commonName VAR_000994
VAR_000994 disease phenotype-associated
VAR_000994 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000995 commonName VAR_000995
VAR_000995 disease phenotype-associated
VAR_000995 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000996 commonName VAR_000996
VAR_000996 disease phenotype-associated
VAR_000996 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000997 commonName VAR_000997
VAR_000997 disease phenotype-associated
VAR_000997 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000998 commonName VAR_000998
VAR_000998 disease phenotype-associated
VAR_000998 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_000999 commonName VAR_000999
VAR_000999 disease phenotype-associated
VAR_000999 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001000 commonName VAR_001000
VAR_001000 disease phenotype-associated
VAR_001000 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001001 commonName VAR_001001
VAR_001001 disease phenotype-associated
VAR_001001 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001002 commonName VAR_001002
VAR_001002 disease phenotype-associated
VAR_001002 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001003 commonName VAR_001003
VAR_001003 disease phenotype-associated
VAR_001003 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001004 commonName VAR_001004
VAR_001004 disease phenotype-associated
VAR_001004 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001005 commonName VAR_001005
VAR_001005 disease phenotype-associated
VAR_001005 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001006 commonName VAR_001006
VAR_001006 disease phenotype-associated
VAR_001006 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001007 commonName VAR_001007
VAR_001007 disease phenotype-associated
VAR_001007 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001008 commonName VAR_001008
VAR_001008 disease phenotype-associated
VAR_001008 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001009 commonName VAR_001009
VAR_001009 disease phenotype-associated
VAR_001009 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001010 commonName VAR_001010
VAR_001010 disease phenotype-associated
VAR_001010 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001011 commonName VAR_001011
VAR_001011 disease phenotype-associated
VAR_001011 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001012 commonName VAR_001012
VAR_001012 disease phenotype-associated
VAR_001012 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001013 commonName VAR_001013
VAR_001013 disease phenotype-associated
VAR_001013 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001014 commonName VAR_001014
VAR_001014 disease phenotype-associated
VAR_001014 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001015 commonName VAR_001015
VAR_001015 disease phenotype-associated
VAR_001015 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001016 commonName VAR_001016
VAR_001016 disease phenotype-associated
VAR_001016 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001019 commonName VAR_001019
VAR_001019 disease phenotype-associated
VAR_001019 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001020 commonName VAR_001020
VAR_001020 disease phenotype-associated
VAR_001020 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001021 commonName VAR_001021
VAR_001021 disease phenotype-associated
VAR_001021 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001022 commonName VAR_001022
VAR_001022 disease phenotype-associated
VAR_001022 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_001023 commonName VAR_001023
VAR_001023 disease phenotype-associated
VAR_001023 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001024 commonName VAR_001024
VAR_001024 disease phenotype-associated
VAR_001024 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001025 commonName VAR_001025
VAR_001025 disease phenotype-associated
VAR_001025 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001026 commonName VAR_001026
VAR_001026 disease phenotype-associated
VAR_001026 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001027 commonName VAR_001027
VAR_001027 disease phenotype-associated
VAR_001027 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_001027 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001028 commonName VAR_001028
VAR_001028 disease phenotype-associated
VAR_001028 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001029 commonName VAR_001029
VAR_001029 disease phenotype-associated
VAR_001029 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001030 commonName VAR_001030
VAR_001030 disease phenotype-associated
VAR_001030 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001031 commonName VAR_001031
VAR_001031 disease phenotype-associated
VAR_001031 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001033 commonName VAR_001033
VAR_001033 disease phenotype-associated
VAR_001033 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_001033 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001034 commonName VAR_001034
VAR_001034 disease phenotype-associated
VAR_001034 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001035 commonName VAR_001035
VAR_001035 disease phenotype-associated
VAR_001035 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_001035 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001036 commonName VAR_001036
VAR_001036 disease phenotype-associated
VAR_001036 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_001036 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001037 commonName VAR_001037
VAR_001037 disease phenotype-associated
VAR_001037 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001038 commonName VAR_001038
VAR_001038 disease phenotype-associated
VAR_001038 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_001038 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001039 commonName VAR_001039
VAR_001039 disease phenotype-associated
VAR_001039 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_001039 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_001039 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001040 commonName VAR_001040
VAR_001040 disease phenotype-associated
VAR_001040 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001041 commonName VAR_001041
VAR_001041 disease phenotype-associated
VAR_001041 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001042 commonName VAR_001042
VAR_001042 disease phenotype-associated
VAR_001042 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_001045 commonName VAR_001045
VAR_001045 disease phenotype-associated
VAR_001045 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001046 commonName VAR_001046
VAR_001046 disease phenotype-associated
VAR_001046 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001047 commonName VAR_001047
VAR_001047 disease phenotype-associated
VAR_001047 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001048 commonName VAR_001048
VAR_001048 disease phenotype-associated
VAR_001048 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001049 commonName VAR_001049
VAR_001049 disease not phenotype-associated
VAR_001050 commonName VAR_001050
VAR_001050 disease phenotype-associated
VAR_001050 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001051 commonName VAR_001051
VAR_001051 disease phenotype-associated
VAR_001051 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001052 commonName VAR_001052
VAR_001052 disease phenotype-associated
VAR_001052 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001053 commonName VAR_001053
VAR_001053 disease phenotype-associated
VAR_001053 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001054 commonName VAR_001054
VAR_001054 disease phenotype-associated
VAR_001054 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001055 commonName VAR_001055
VAR_001055 disease phenotype-associated
VAR_001055 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001056 commonName VAR_001056
VAR_001056 disease phenotype-associated
VAR_001056 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001057 commonName VAR_001057
VAR_001057 disease phenotype-associated
VAR_001057 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001058 commonName VAR_001058
VAR_001058 disease phenotype-associated
VAR_001058 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001059 commonName VAR_001059
VAR_001059 disease phenotype-associated
VAR_001059 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001060 commonName VAR_001060
VAR_001060 disease phenotype-associated
VAR_001060 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001061 commonName VAR_001061
VAR_001061 disease phenotype-associated
VAR_001061 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001062 commonName VAR_001062
VAR_001062 disease phenotype-associated
VAR_001062 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001063 commonName VAR_001063
VAR_001063 disease phenotype-associated
VAR_001063 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001064 commonName VAR_001064
VAR_001064 disease phenotype-associated
VAR_001064 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001065 commonName VAR_001065
VAR_001065 disease phenotype-associated
VAR_001065 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001066 commonName VAR_001066
VAR_001066 disease phenotype-associated
VAR_001066 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001067 commonName VAR_001067
VAR_001067 disease phenotype-associated
VAR_001067 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001068 commonName VAR_001068
VAR_001068 disease phenotype-associated
VAR_001068 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001069 commonName VAR_001069
VAR_001069 disease phenotype-associated
VAR_001069 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001070 commonName VAR_001070
VAR_001070 disease phenotype-associated
VAR_001070 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001071 commonName VAR_001071
VAR_001071 disease phenotype-associated
VAR_001071 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001072 commonName VAR_001072
VAR_001072 disease phenotype-associated
VAR_001072 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001073 commonName VAR_001073
VAR_001073 disease phenotype-associated
VAR_001073 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001074 commonName VAR_001074
VAR_001074 disease phenotype-associated
VAR_001074 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001075 commonName VAR_001075
VAR_001075 disease phenotype-associated
VAR_001075 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001076 commonName VAR_001076
VAR_001076 disease phenotype-associated
VAR_001076 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001077 commonName VAR_001077
VAR_001077 disease phenotype-associated
VAR_001077 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001078 commonName VAR_001078
VAR_001078 disease phenotype-associated
VAR_001078 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001079 commonName VAR_001079
VAR_001079 disease phenotype-associated
VAR_001079 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001080 commonName VAR_001080
VAR_001080 disease phenotype-associated
VAR_001080 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001081 commonName VAR_001081
VAR_001081 disease phenotype-associated
VAR_001081 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001082 commonName VAR_001082
VAR_001082 disease phenotype-associated
VAR_001082 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001083 commonName VAR_001083
VAR_001083 disease phenotype-associated
VAR_001083 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001084 commonName VAR_001084
VAR_001084 disease phenotype-associated
VAR_001084 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001085 commonName VAR_001085
VAR_001085 disease phenotype-associated
VAR_001085 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001086 commonName VAR_001086
VAR_001086 disease phenotype-associated
VAR_001086 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001087 commonName VAR_001087
VAR_001087 disease phenotype-associated
VAR_001087 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001088 commonName VAR_001088
VAR_001088 disease phenotype-associated
VAR_001088 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001089 commonName VAR_001089
VAR_001089 disease phenotype-associated
VAR_001089 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001090 commonName VAR_001090
VAR_001090 disease phenotype-associated
VAR_001090 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001091 commonName VAR_001091
VAR_001091 disease phenotype-associated
VAR_001091 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001092 commonName VAR_001092
VAR_001092 disease phenotype-associated
VAR_001092 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001093 commonName VAR_001093
VAR_001093 disease phenotype-associated
VAR_001093 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001094 commonName VAR_001094
VAR_001094 disease phenotype-associated
VAR_001094 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001095 commonName VAR_001095
VAR_001095 disease phenotype-associated
VAR_001095 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001096 commonName VAR_001096
VAR_001096 disease phenotype-associated
VAR_001096 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001097 commonName VAR_001097
VAR_001097 disease phenotype-associated
VAR_001097 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001098 commonName VAR_001098
VAR_001098 disease phenotype-associated
VAR_001098 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001099 commonName VAR_001099
VAR_001099 disease phenotype-associated
VAR_001099 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001100 commonName VAR_001100
VAR_001100 disease phenotype-associated
VAR_001100 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001101 commonName VAR_001101
VAR_001101 disease phenotype-associated
VAR_001101 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001102 commonName VAR_001102
VAR_001102 disease phenotype-associated
VAR_001102 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001103 commonName VAR_001103
VAR_001103 disease phenotype-associated
VAR_001103 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001104 commonName VAR_001104
VAR_001104 disease phenotype-associated
VAR_001104 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001105 commonName VAR_001105
VAR_001105 disease phenotype-associated
VAR_001105 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001106 commonName VAR_001106
VAR_001106 disease phenotype-associated
VAR_001106 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001107 commonName VAR_001107
VAR_001107 disease phenotype-associated
VAR_001107 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001108 commonName VAR_001108
VAR_001108 disease phenotype-associated
VAR_001108 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001109 commonName VAR_001109
VAR_001109 disease phenotype-associated
VAR_001109 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001110 commonName VAR_001110
VAR_001110 disease phenotype-associated
VAR_001110 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001111 commonName VAR_001111
VAR_001111 disease phenotype-associated
VAR_001111 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001112 commonName VAR_001112
VAR_001112 disease phenotype-associated
VAR_001112 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001113 commonName VAR_001113
VAR_001113 disease phenotype-associated
VAR_001113 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001114 commonName VAR_001114
VAR_001114 disease phenotype-associated
VAR_001114 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001115 commonName VAR_001115
VAR_001115 disease phenotype-associated
VAR_001115 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001116 commonName VAR_001116
VAR_001116 disease phenotype-associated
VAR_001116 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001117 commonName VAR_001117
VAR_001117 disease phenotype-associated
VAR_001117 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001118 commonName VAR_001118
VAR_001118 disease phenotype-associated
VAR_001118 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001119 commonName VAR_001119
VAR_001119 disease phenotype-associated
VAR_001119 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001120 commonName VAR_001120
VAR_001120 disease phenotype-associated
VAR_001120 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001121 commonName VAR_001121
VAR_001121 disease phenotype-associated
VAR_001121 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001122 commonName VAR_001122
VAR_001122 disease phenotype-associated
VAR_001122 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001123 commonName VAR_001123
VAR_001123 disease phenotype-associated
VAR_001123 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001124 commonName VAR_001124
VAR_001124 disease phenotype-associated
VAR_001124 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001125 commonName VAR_001125
VAR_001125 disease phenotype-associated
VAR_001125 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001126 commonName VAR_001126
VAR_001126 disease phenotype-associated
VAR_001126 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001128 commonName VAR_001128
VAR_001128 disease phenotype-associated
VAR_001128 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001129 commonName VAR_001129
VAR_001129 disease phenotype-associated
VAR_001129 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001130 commonName VAR_001130
VAR_001130 disease phenotype-associated
VAR_001130 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001131 commonName VAR_001131
VAR_001131 disease phenotype-associated
VAR_001131 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001132 commonName VAR_001132
VAR_001132 disease phenotype-associated
VAR_001132 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001133 commonName VAR_001133
VAR_001133 disease phenotype-associated
VAR_001133 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001134 commonName VAR_001134
VAR_001134 disease phenotype-associated
VAR_001134 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001135 commonName VAR_001135
VAR_001135 disease phenotype-associated
VAR_001135 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001136 commonName VAR_001136
VAR_001136 disease not phenotype-associated
VAR_001137 commonName VAR_001137
VAR_001137 disease not phenotype-associated
VAR_001138 commonName VAR_001138
VAR_001138 disease phenotype-associated
VAR_001138 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001139 commonName VAR_001139
VAR_001139 disease phenotype-associated
VAR_001139 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001140 commonName VAR_001140
VAR_001140 disease phenotype-associated
VAR_001140 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001141 commonName VAR_001141
VAR_001141 disease phenotype-associated
VAR_001141 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001142 commonName VAR_001142
VAR_001142 disease phenotype-associated
VAR_001142 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001143 commonName VAR_001143
VAR_001143 disease phenotype-associated
VAR_001143 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001144 commonName VAR_001144
VAR_001144 disease phenotype-associated
VAR_001144 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001145 commonName VAR_001145
VAR_001145 disease phenotype-associated
VAR_001145 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001146 commonName VAR_001146
VAR_001146 disease phenotype-associated
VAR_001146 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001147 commonName VAR_001147
VAR_001147 disease phenotype-associated
VAR_001147 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001148 commonName VAR_001148
VAR_001148 disease phenotype-associated
VAR_001148 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001149 commonName VAR_001149
VAR_001149 disease phenotype-associated
VAR_001149 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001150 commonName VAR_001150
VAR_001150 disease phenotype-associated
VAR_001150 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001151 commonName VAR_001151
VAR_001151 disease phenotype-associated
VAR_001151 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001152 commonName VAR_001152
VAR_001152 disease phenotype-associated
VAR_001152 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001153 commonName VAR_001153
VAR_001153 disease phenotype-associated
VAR_001153 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001154 commonName VAR_001154
VAR_001154 disease phenotype-associated
VAR_001154 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001155 commonName VAR_001155
VAR_001155 disease phenotype-associated
VAR_001155 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001156 commonName VAR_001156
VAR_001156 disease phenotype-associated
VAR_001156 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001157 commonName VAR_001157
VAR_001157 disease phenotype-associated
VAR_001157 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001158 commonName VAR_001158
VAR_001158 disease phenotype-associated
VAR_001158 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001159 commonName VAR_001159
VAR_001159 disease phenotype-associated
VAR_001159 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001160 commonName VAR_001160
VAR_001160 disease phenotype-associated
VAR_001160 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001161 commonName VAR_001161
VAR_001161 disease phenotype-associated
VAR_001161 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001162 commonName VAR_001162
VAR_001162 disease phenotype-associated
VAR_001162 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001163 commonName VAR_001163
VAR_001163 disease phenotype-associated
VAR_001163 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001164 commonName VAR_001164
VAR_001164 disease phenotype-associated
VAR_001164 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001165 commonName VAR_001165
VAR_001165 disease phenotype-associated
VAR_001165 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001166 commonName VAR_001166
VAR_001166 disease phenotype-associated
VAR_001166 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001167 commonName VAR_001167
VAR_001167 disease phenotype-associated
VAR_001167 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001168 commonName VAR_001168
VAR_001168 disease phenotype-associated
VAR_001168 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001169 commonName VAR_001169
VAR_001169 disease phenotype-associated
VAR_001169 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001170 commonName VAR_001170
VAR_001170 disease phenotype-associated
VAR_001170 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001171 commonName VAR_001171
VAR_001171 disease phenotype-associated
VAR_001171 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001172 commonName VAR_001172
VAR_001172 disease phenotype-associated
VAR_001172 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001173 commonName VAR_001173
VAR_001173 disease phenotype-associated
VAR_001173 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001174 commonName VAR_001174
VAR_001174 disease phenotype-associated
VAR_001174 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001175 commonName VAR_001175
VAR_001175 disease phenotype-associated
VAR_001175 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001176 commonName VAR_001176
VAR_001176 disease phenotype-associated
VAR_001176 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001177 commonName VAR_001177
VAR_001177 disease phenotype-associated
VAR_001177 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001178 commonName VAR_001178
VAR_001178 disease phenotype-associated
VAR_001178 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001179 commonName VAR_001179
VAR_001179 disease phenotype-associated
VAR_001179 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001180 commonName VAR_001180
VAR_001180 disease phenotype-associated
VAR_001180 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001181 commonName VAR_001181
VAR_001181 disease phenotype-associated
VAR_001181 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001182 commonName VAR_001182
VAR_001182 disease phenotype-associated
VAR_001182 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001183 commonName VAR_001183
VAR_001183 disease phenotype-associated
VAR_001183 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001184 commonName VAR_001184
VAR_001184 disease phenotype-associated
VAR_001184 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001185 commonName VAR_001185
VAR_001185 disease phenotype-associated
VAR_001185 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001186 commonName VAR_001186
VAR_001186 disease phenotype-associated
VAR_001186 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001187 commonName VAR_001187
VAR_001187 disease phenotype-associated
VAR_001187 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001188 commonName VAR_001188
VAR_001188 disease phenotype-associated
VAR_001188 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001189 commonName VAR_001189
VAR_001189 disease phenotype-associated
VAR_001189 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001190 commonName VAR_001190
VAR_001190 disease phenotype-associated
VAR_001190 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001191 commonName VAR_001191
VAR_001191 disease phenotype-associated
VAR_001191 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001192 commonName VAR_001192
VAR_001192 disease phenotype-associated
VAR_001192 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001193 commonName VAR_001193
VAR_001193 disease phenotype-associated
VAR_001193 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001194 commonName VAR_001194
VAR_001194 disease phenotype-associated
VAR_001194 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001195 commonName VAR_001195
VAR_001195 disease phenotype-associated
VAR_001195 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001196 commonName VAR_001196
VAR_001196 disease phenotype-associated
VAR_001196 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001197 commonName VAR_001197
VAR_001197 disease phenotype-associated
VAR_001197 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001198 commonName VAR_001198
VAR_001198 disease phenotype-associated
VAR_001198 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001199 commonName VAR_001199
VAR_001199 disease phenotype-associated
VAR_001199 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001201 commonName VAR_001201
VAR_001201 disease phenotype-associated
VAR_001201 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001202 commonName VAR_001202
VAR_001202 disease phenotype-associated
VAR_001202 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001203 commonName VAR_001203
VAR_001203 disease phenotype-associated
VAR_001203 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001204 commonName VAR_001204
VAR_001204 disease not phenotype-associated
VAR_001205 commonName VAR_001205
VAR_001205 disease phenotype-associated
VAR_001205 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001206 commonName VAR_001206
VAR_001206 disease phenotype-associated
VAR_001206 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001207 commonName VAR_001207
VAR_001207 disease phenotype-associated
VAR_001207 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001208 commonName VAR_001208
VAR_001208 disease phenotype-associated
VAR_001208 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001209 commonName VAR_001209
VAR_001209 disease phenotype-associated
VAR_001209 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001210 commonName VAR_001210
VAR_001210 disease phenotype-associated
VAR_001210 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001211 commonName VAR_001211
VAR_001211 disease phenotype-associated
VAR_001211 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001212 commonName VAR_001212
VAR_001212 disease phenotype-associated
VAR_001212 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_001213 commonName VAR_001213
VAR_001213 disease not phenotype-associated
VAR_001214 commonName VAR_001214
VAR_001214 disease not phenotype-associated
VAR_001215 commonName VAR_001215
VAR_001215 disease not phenotype-associated
VAR_001216 commonName VAR_001216
VAR_001216 disease not phenotype-associated
VAR_001217 commonName VAR_001217
VAR_001217 disease not phenotype-associated
VAR_001218 commonName VAR_001218
VAR_001218 disease phenotype-associated
VAR_001218 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540]
VAR_001219 commonName VAR_001219
VAR_001219 disease phenotype-associated
VAR_001219 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540]
VAR_001226 commonName VAR_001226
VAR_001226 disease phenotype-associated
VAR_001226 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001227 commonName VAR_001227
VAR_001227 disease phenotype-associated
VAR_001227 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001228 commonName VAR_001228
VAR_001228 disease phenotype-associated
VAR_001228 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001229 commonName VAR_001229
VAR_001229 disease phenotype-associated
VAR_001229 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001230 commonName VAR_001230
VAR_001230 disease phenotype-associated
VAR_001230 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001231 commonName VAR_001231
VAR_001231 disease phenotype-associated
VAR_001231 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001232 commonName VAR_001232
VAR_001232 disease phenotype-associated
VAR_001232 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001233 commonName VAR_001233
VAR_001233 disease phenotype-associated
VAR_001233 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001234 commonName VAR_001234
VAR_001234 disease phenotype-associated
VAR_001234 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001235 commonName VAR_001235
VAR_001235 disease phenotype-associated
VAR_001235 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001236 commonName VAR_001236
VAR_001236 disease phenotype-associated
VAR_001236 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001237 commonName VAR_001237
VAR_001237 disease not phenotype-associated
VAR_001238 commonName VAR_001238
VAR_001238 disease phenotype-associated
VAR_001238 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001239 commonName VAR_001239
VAR_001239 disease phenotype-associated
VAR_001239 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001240 commonName VAR_001240
VAR_001240 disease phenotype-associated
VAR_001240 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
VAR_001241 commonName VAR_001241
VAR_001241 disease phenotype-associated
VAR_001241 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_001242 commonName VAR_001242
VAR_001242 disease not phenotype-associated
VAR_001243 commonName VAR_001243
VAR_001243 disease not phenotype-associated
VAR_001244 commonName VAR_001244
VAR_001244 disease phenotype-associated
VAR_001244 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_001244 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_001245 commonName VAR_001245
VAR_001245 disease phenotype-associated
VAR_001245 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_001246 commonName VAR_001246
VAR_001246 disease phenotype-associated
VAR_001246 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_001247 commonName VAR_001247
VAR_001247 disease phenotype-associated
VAR_001247 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_001248 commonName VAR_001248
VAR_001248 disease not phenotype-associated
VAR_001249 commonName VAR_001249
VAR_001249 disease not phenotype-associated
VAR_001250 commonName VAR_001250
VAR_001251 commonName VAR_001251
VAR_001252 commonName VAR_001252
VAR_001254 commonName VAR_001254
VAR_001254 disease not phenotype-associated
VAR_001255 commonName VAR_001255
VAR_001255 disease not phenotype-associated
VAR_001258 commonName VAR_001258
VAR_001258 disease not phenotype-associated
VAR_001259 commonName VAR_001259
VAR_001259 disease not phenotype-associated
VAR_001260 commonName VAR_001260
VAR_001260 disease phenotype-associated
VAR_001260 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001261 commonName VAR_001261
VAR_001261 disease phenotype-associated
VAR_001261 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001262 commonName VAR_001262
VAR_001262 disease phenotype-associated
VAR_001262 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001263 commonName VAR_001263
VAR_001263 disease phenotype-associated
VAR_001263 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001264 commonName VAR_001264
VAR_001264 disease phenotype-associated
VAR_001264 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001265 commonName VAR_001265
VAR_001265 disease phenotype-associated
VAR_001265 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_001266 commonName VAR_001266
VAR_001266 disease not phenotype-associated
VAR_001267 commonName VAR_001267
VAR_001267 disease phenotype-associated
VAR_001267 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
VAR_001268 commonName VAR_001268
VAR_001268 disease phenotype-associated
VAR_001268 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
VAR_001269 commonName VAR_001269
VAR_001269 disease phenotype-associated
VAR_001269 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
VAR_001271 commonName VAR_001271
VAR_001271 disease phenotype-associated
VAR_001271 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001272 commonName VAR_001272
VAR_001272 disease phenotype-associated
VAR_001272 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001274 commonName VAR_001274
VAR_001274 disease phenotype-associated
VAR_001274 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001275 commonName VAR_001275
VAR_001275 disease phenotype-associated
VAR_001275 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001276 commonName VAR_001276
VAR_001276 disease phenotype-associated
VAR_001276 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001277 commonName VAR_001277
VAR_001277 disease phenotype-associated
VAR_001277 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001278 commonName VAR_001278
VAR_001278 disease phenotype-associated
VAR_001278 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001280 commonName VAR_001280
VAR_001280 disease phenotype-associated
VAR_001280 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_001303 commonName VAR_001303
VAR_001303 disease phenotype-associated
VAR_001303 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_001304 commonName VAR_001304
VAR_001304 disease phenotype-associated
VAR_001304 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_001305 commonName VAR_001305
VAR_001305 disease not phenotype-associated
VAR_001306 comment A gastric cancer sample
VAR_001306 commonName VAR_001306
VAR_001307 comment A diffuse gastric cancer sample
VAR_001307 commonName VAR_001307
VAR_001309 comment Lobular breast carcinoma
VAR_001309 commonName VAR_001309
VAR_001310 commonName VAR_001310
VAR_001310 disease not phenotype-associated
VAR_001311 comment A diffuse gastric cancer sample
VAR_001311 commonName VAR_001311
VAR_001314 comment A gastric carcinoma sample
VAR_001314 commonName VAR_001314
VAR_001315 commonName VAR_001315
VAR_001315 disease not phenotype-associated
VAR_001317 comment A diffuse gastric cancer sample
VAR_001317 commonName VAR_001317
VAR_001318 comment A thyroid cancer sample
VAR_001318 commonName VAR_001318
VAR_001319 comment A gastric cancer sample
VAR_001319 commonName VAR_001319
VAR_001320 commonName VAR_001320
VAR_001320 disease not phenotype-associated
VAR_001321 commonName VAR_001321
VAR_001322 comment An ovarian carcinoma sample
VAR_001322 commonName VAR_001322
VAR_001323 commonName VAR_001323
VAR_001323 disease not phenotype-associated
VAR_001324 commonName VAR_001324
VAR_001324 disease phenotype-associated
VAR_001324 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001325 commonName VAR_001325
VAR_001325 disease phenotype-associated
VAR_001325 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001326 commonName VAR_001326
VAR_001326 disease phenotype-associated
VAR_001326 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001327 commonName VAR_001327
VAR_001327 disease phenotype-associated
VAR_001327 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001328 commonName VAR_001328
VAR_001328 disease phenotype-associated
VAR_001328 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001329 commonName VAR_001329
VAR_001329 disease phenotype-associated
VAR_001329 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001330 commonName VAR_001330
VAR_001330 disease phenotype-associated
VAR_001330 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001331 commonName VAR_001331
VAR_001331 disease phenotype-associated
VAR_001331 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001332 commonName VAR_001332
VAR_001332 disease phenotype-associated
VAR_001332 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001333 commonName VAR_001333
VAR_001333 disease phenotype-associated
VAR_001333 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001334 commonName VAR_001334
VAR_001334 disease phenotype-associated
VAR_001334 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001335 commonName VAR_001335
VAR_001335 disease phenotype-associated
VAR_001335 phenoCommon Hereditary pyropoikilocytosis (HPP) [MIM:266140]
VAR_001336 commonName VAR_001336
VAR_001336 disease phenotype-associated
VAR_001336 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001337 commonName VAR_001337
VAR_001337 disease phenotype-associated
VAR_001337 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001339 commonName VAR_001339
VAR_001339 disease phenotype-associated
VAR_001339 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001339 phenoCommon Hereditary pyropoikilocytosis (HPP) [MIM:266140]
VAR_001340 commonName VAR_001340
VAR_001340 disease phenotype-associated
VAR_001340 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001341 commonName VAR_001341
VAR_001341 disease phenotype-associated
VAR_001341 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001342 commonName VAR_001342
VAR_001342 disease phenotype-associated
VAR_001342 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001344 commonName VAR_001344
VAR_001344 disease phenotype-associated
VAR_001344 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001345 commonName VAR_001345
VAR_001345 disease not phenotype-associated
VAR_001346 commonName VAR_001346
VAR_001346 disease phenotype-associated
VAR_001346 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600]
VAR_001347 commonName VAR_001347
VAR_001347 disease not phenotype-associated
VAR_001348 commonName VAR_001348
VAR_001348 disease not phenotype-associated
VAR_001349 commonName VAR_001349
VAR_001349 disease not phenotype-associated
VAR_001350 commonName VAR_001350
VAR_001350 disease not phenotype-associated
VAR_001351 commonName VAR_001351
VAR_001352 commonName VAR_001352
VAR_001353 commonName VAR_001353
VAR_001353 disease not phenotype-associated
VAR_001354 commonName VAR_001354
VAR_001354 disease not phenotype-associated
VAR_001355 commonName VAR_001355
VAR_001355 disease not phenotype-associated
VAR_001356 commonName VAR_001356
VAR_001356 disease not phenotype-associated
VAR_001357 commonName VAR_001357
VAR_001357 disease phenotype-associated
VAR_001357 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001358 commonName VAR_001358
VAR_001358 disease phenotype-associated
VAR_001358 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001359 commonName VAR_001359
VAR_001359 disease phenotype-associated
VAR_001359 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001360 commonName VAR_001360
VAR_001360 disease phenotype-associated
VAR_001360 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001361 commonName VAR_001361
VAR_001361 disease phenotype-associated
VAR_001361 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001362 commonName VAR_001362
VAR_001362 disease phenotype-associated
VAR_001362 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870]
VAR_001363 commonName VAR_001363
VAR_001363 disease phenotype-associated
VAR_001363 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001365 commonName VAR_001365
VAR_001365 disease phenotype-associated
VAR_001365 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001366 commonName VAR_001366
VAR_001366 disease phenotype-associated
VAR_001366 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001367 commonName VAR_001367
VAR_001367 disease phenotype-associated
VAR_001367 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001368 commonName VAR_001368
VAR_001368 disease phenotype-associated
VAR_001368 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001369 commonName VAR_001369
VAR_001369 disease phenotype-associated
VAR_001369 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001370 commonName VAR_001370
VAR_001370 disease phenotype-associated
VAR_001370 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_001371 commonName VAR_001371
VAR_001371 disease not phenotype-associated
VAR_001372 commonName VAR_001372
VAR_001372 disease phenotype-associated
VAR_001372 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_001373 commonName VAR_001373
VAR_001373 disease not phenotype-associated
VAR_001374 commonName VAR_001374
VAR_001374 disease not phenotype-associated
VAR_001375 commonName VAR_001375
VAR_001375 disease not phenotype-associated
VAR_001378 commonName VAR_001378
VAR_001379 commonName VAR_001379
VAR_001380 commonName VAR_001380
VAR_001381 commonName VAR_001381
VAR_001381 disease phenotype-associated
VAR_001381 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
VAR_001382 commonName VAR_001382
VAR_001382 disease phenotype-associated
VAR_001382 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
VAR_001383 commonName VAR_001383
VAR_001384 commonName VAR_001384
VAR_001384 disease not phenotype-associated
VAR_001385 commonName VAR_001385
VAR_001385 disease phenotype-associated
VAR_001385 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001386 commonName VAR_001386
VAR_001386 disease phenotype-associated
VAR_001386 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001387 commonName VAR_001387
VAR_001387 disease phenotype-associated
VAR_001387 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001388 commonName VAR_001388
VAR_001388 disease phenotype-associated
VAR_001388 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001389 commonName VAR_001389
VAR_001389 disease phenotype-associated
VAR_001389 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001390 commonName VAR_001390
VAR_001390 disease phenotype-associated
VAR_001390 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_001391 commonName VAR_001391
VAR_001391 disease phenotype-associated
VAR_001391 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001392 commonName VAR_001392
VAR_001392 disease phenotype-associated
VAR_001392 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001393 commonName VAR_001393
VAR_001393 disease phenotype-associated
VAR_001393 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001394 commonName VAR_001394
VAR_001394 disease not phenotype-associated
VAR_001395 commonName VAR_001395
VAR_001395 disease not phenotype-associated
VAR_001396 commonName VAR_001396
VAR_001396 disease phenotype-associated
VAR_001396 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001397 commonName VAR_001397
VAR_001397 disease phenotype-associated
VAR_001397 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001398 commonName VAR_001398
VAR_001398 disease phenotype-associated
VAR_001398 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001399 commonName VAR_001399
VAR_001399 disease phenotype-associated
VAR_001399 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_001400 commonName VAR_001400
VAR_001400 disease not phenotype-associated
VAR_001401 commonName VAR_001401
VAR_001401 disease not phenotype-associated
VAR_001403 commonName VAR_001403
VAR_001403 disease phenotype-associated
VAR_001403 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_001403 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_001408 comment A biliary tract tumor
VAR_001408 commonName VAR_001408
VAR_001409 comment A biliary tract tumor
VAR_001409 commonName VAR_001409
VAR_001410 comment A lung tumor
VAR_001410 commonName VAR_001410
VAR_001411 comment A biliary tract tumor
VAR_001411 commonName VAR_001411
VAR_001412 comment A pancreas tumor
VAR_001412 commonName VAR_001412
VAR_001413 commonName VAR_001413
VAR_001413 disease phenotype-associated
VAR_001413 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001414 commonName VAR_001414
VAR_001414 disease phenotype-associated
VAR_001414 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001415 comment A biliary tract tumor
VAR_001415 commonName VAR_001415
VAR_001416 commonName VAR_001416
VAR_001416 disease phenotype-associated
VAR_001416 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001417 comment A biliary tract tumor
VAR_001417 commonName VAR_001417
VAR_001418 commonName VAR_001418
VAR_001418 disease phenotype-associated
VAR_001418 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001419 commonName VAR_001419
VAR_001419 disease phenotype-associated
VAR_001419 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001420 commonName VAR_001420
VAR_001420 disease phenotype-associated
VAR_001420 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001421 comment A biliary tract tumor
VAR_001421 commonName VAR_001421
VAR_001422 commonName VAR_001422
VAR_001422 disease not phenotype-associated
VAR_001423 commonName VAR_001423
VAR_001423 disease phenotype-associated
VAR_001423 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001424 commonName VAR_001424
VAR_001424 disease phenotype-associated
VAR_001424 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001425 commonName VAR_001425
VAR_001425 disease not phenotype-associated
VAR_001426 comment Pancreas carcinoma
VAR_001426 commonName VAR_001426
VAR_001427 commonName VAR_001427
VAR_001427 disease phenotype-associated
VAR_001427 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001428 commonName VAR_001428
VAR_001428 disease not phenotype-associated
VAR_001430 commonName VAR_001430
VAR_001430 disease phenotype-associated
VAR_001430 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001431 comment Non-small cell lung carcinoma
VAR_001431 commonName VAR_001431
VAR_001432 commonName VAR_001432
VAR_001432 disease phenotype-associated
VAR_001432 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001433 comment An esophagus tumor
VAR_001433 commonName VAR_001433
VAR_001434 commonName VAR_001434
VAR_001434 disease not phenotype-associated
VAR_001435 comment A bladder tumor
VAR_001435 commonName VAR_001435
VAR_001436 comment A lung tumor
VAR_001436 commonName VAR_001436
VAR_001437 commonName VAR_001437
VAR_001437 disease phenotype-associated
VAR_001437 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001438 commonName VAR_001438
VAR_001438 disease not phenotype-associated
VAR_001439 comment An esophagus tumor
VAR_001439 commonName VAR_001439
VAR_001440 comment A bladder tumor
VAR_001440 commonName VAR_001440
VAR_001441 comment A biliary tract tumor
VAR_001441 commonName VAR_001441
VAR_001442 comment Neck tumor
VAR_001442 commonName VAR_001442
VAR_001443 comment Some patients with melanoma
VAR_001443 commonName VAR_001443
VAR_001444 comment A head and neck tumor
VAR_001444 commonName VAR_001444
VAR_001445 comment A lung tumor
VAR_001445 commonName VAR_001445
VAR_001446 comment A bladder tumor
VAR_001446 commonName VAR_001446
VAR_001447 comment Non-small cell lung carcinoma
VAR_001447 commonName VAR_001447
VAR_001448 comment Neck and a lung tumor
VAR_001448 commonName VAR_001448
VAR_001449 commonName VAR_001449
VAR_001449 disease phenotype-associated
VAR_001449 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001450 commonName VAR_001450
VAR_001450 disease not phenotype-associated
VAR_001451 commonName VAR_001451
VAR_001451 disease phenotype-associated
VAR_001451 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001452 comment A biliary tract tumor
VAR_001452 commonName VAR_001452
VAR_001453 commonName VAR_001453
VAR_001453 disease phenotype-associated
VAR_001453 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001454 commonName VAR_001454
VAR_001454 disease phenotype-associated
VAR_001454 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001455 comment Non-small cell lung carcinoma
VAR_001455 commonName VAR_001455
VAR_001456 comment Non-small cell lung carcinoma
VAR_001456 commonName VAR_001456
VAR_001457 commonName VAR_001457
VAR_001457 disease phenotype-associated
VAR_001457 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001458 commonName VAR_001458
VAR_001458 disease phenotype-associated
VAR_001458 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001459 commonName VAR_001459
VAR_001459 disease phenotype-associated
VAR_001459 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001460 commonName VAR_001460
VAR_001460 disease phenotype-associated
VAR_001460 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001461 comment Non-small cell lung carcinoma
VAR_001461 commonName VAR_001461
VAR_001462 commonName VAR_001462
VAR_001462 disease phenotype-associated
VAR_001462 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001463 commonName VAR_001463
VAR_001463 disease not phenotype-associated
VAR_001464 commonName VAR_001464
VAR_001464 disease phenotype-associated
VAR_001464 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001464 phenoCommon Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]
VAR_001466 commonName VAR_001466
VAR_001466 disease phenotype-associated
VAR_001466 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001467 commonName VAR_001467
VAR_001467 disease not phenotype-associated
VAR_001468 comment Neck tumor
VAR_001468 commonName VAR_001468
VAR_001469 comment A bladder tumor
VAR_001469 commonName VAR_001469
VAR_001470 comment Non-small cell lung carcinoma
VAR_001470 commonName VAR_001470
VAR_001471 commonName VAR_001471
VAR_001471 disease phenotype-associated
VAR_001471 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001472 commonName VAR_001472
VAR_001472 disease phenotype-associated
VAR_001472 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001473 comment A biliary tract tumor
VAR_001473 commonName VAR_001473
VAR_001474 comment Non-small cell lung carcinoma
VAR_001474 commonName VAR_001474
VAR_001475 comment Non-small cell lung carcinoma
VAR_001475 commonName VAR_001475
VAR_001476 comment A biliary tract tumor
VAR_001476 commonName VAR_001476
VAR_001477 comment Leukemia
VAR_001477 commonName VAR_001477
VAR_001478 comment An esophagus tumor
VAR_001478 commonName VAR_001478
VAR_001479 commonName VAR_001479
VAR_001479 disease phenotype-associated
VAR_001479 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_001480 comment Squamous cell carcinoma
VAR_001480 commonName VAR_001480
VAR_001481 comment Non-small cell lung carcinoma
VAR_001481 commonName VAR_001481
VAR_001482 comment Non-small cell lung carcinoma
VAR_001482 commonName VAR_001482
VAR_001483 comment Non-small cell lung carcinoma
VAR_001483 commonName VAR_001483
VAR_001484 comment Squamous cell carcinoma
VAR_001484 commonName VAR_001484
VAR_001486 commonName VAR_001486
VAR_001486 disease not phenotype-associated
VAR_001487 comment Non-small cell lung carcinoma
VAR_001487 commonName VAR_001487
VAR_001488 comment Lung adenocarcinoma
VAR_001488 commonName VAR_001488
VAR_001489 comment Lung adenocarcinoma
VAR_001489 commonName VAR_001489
VAR_001490 comment Breast cancer
VAR_001490 commonName VAR_001490
VAR_001491 commonName VAR_001491
VAR_001491 disease phenotype-associated
VAR_001491 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_001492 commonName VAR_001492
HbVar.673 phenoCommon Hemoglobin variant
VAR_001492 disease phenotype-associated
VAR_001492 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_001492 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_001493 commonName VAR_001493
VAR_001493 disease phenotype-associated
VAR_001493 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_001494 commonName VAR_001494
VAR_001494 disease phenotype-associated
VAR_001494 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_001495 commonName VAR_001495
VAR_001495 disease not phenotype-associated
VAR_001496 commonName VAR_001496
VAR_001496 disease not phenotype-associated
VAR_001498 commonName VAR_001498
VAR_001498 disease not phenotype-associated
VAR_001499 commonName VAR_001499
VAR_001499 disease phenotype-associated
VAR_001499 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
VAR_001500 commonName VAR_001500
VAR_001500 disease phenotype-associated
VAR_001500 phenoCommon Malignant hyperthermia susceptibility type 5 (MHS5) [MIM:601887]
VAR_001501 commonName VAR_001501
VAR_001501 disease phenotype-associated
VAR_001501 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
VAR_001502 commonName VAR_001502
VAR_001502 disease phenotype-associated
VAR_001502 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
VAR_001503 commonName VAR_001503
VAR_001503 disease not phenotype-associated
VAR_001504 commonName VAR_001504
VAR_001504 disease phenotype-associated
VAR_001504 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_001505 commonName VAR_001505
VAR_001505 disease phenotype-associated
VAR_001505 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_001506 commonName VAR_001506
VAR_001506 disease phenotype-associated
VAR_001506 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_001507 commonName VAR_001507
VAR_001507 disease phenotype-associated
VAR_001507 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_001508 commonName VAR_001508
VAR_001508 disease phenotype-associated
VAR_001508 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001509 commonName VAR_001509
VAR_001509 disease phenotype-associated
VAR_001509 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001510 commonName VAR_001510
VAR_001510 disease phenotype-associated
VAR_001510 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001511 commonName VAR_001511
VAR_001511 disease phenotype-associated
VAR_001511 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001512 commonName VAR_001512
VAR_001512 disease phenotype-associated
VAR_001512 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001513 commonName VAR_001513
VAR_001513 disease phenotype-associated
VAR_001513 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001514 commonName VAR_001514
VAR_001514 disease phenotype-associated
VAR_001514 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_001516 commonName VAR_001516
VAR_001516 disease phenotype-associated
VAR_001516 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001517 commonName VAR_001517
VAR_001517 disease phenotype-associated
VAR_001517 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001518 commonName VAR_001518
VAR_001518 disease phenotype-associated
VAR_001518 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001519 commonName VAR_001519
VAR_001519 disease phenotype-associated
VAR_001519 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001520 commonName VAR_001520
VAR_001520 disease phenotype-associated
VAR_001520 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001521 commonName VAR_001521
VAR_001521 disease phenotype-associated
VAR_001521 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001522 commonName VAR_001522
VAR_001522 disease phenotype-associated
VAR_001522 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001523 commonName VAR_001523
VAR_001523 disease phenotype-associated
VAR_001523 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001524 commonName VAR_001524
VAR_001524 disease phenotype-associated
VAR_001524 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001525 commonName VAR_001525
VAR_001525 disease phenotype-associated
VAR_001525 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001526 commonName VAR_001526
VAR_001526 disease phenotype-associated
VAR_001526 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001527 commonName VAR_001527
VAR_001527 disease phenotype-associated
VAR_001527 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]
VAR_001528 commonName VAR_001528
VAR_001528 disease phenotype-associated
VAR_001528 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001529 commonName VAR_001529
VAR_001529 disease phenotype-associated
VAR_001529 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001530 commonName VAR_001530
VAR_001530 disease phenotype-associated
VAR_001530 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001531 commonName VAR_001531
VAR_001531 disease phenotype-associated
VAR_001531 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001532 commonName VAR_001532
VAR_001532 disease phenotype-associated
VAR_001532 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001533 commonName VAR_001533
VAR_001533 disease phenotype-associated
VAR_001533 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001534 commonName VAR_001534
VAR_001534 disease phenotype-associated
VAR_001534 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001535 commonName VAR_001535
VAR_001535 disease phenotype-associated
VAR_001535 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001536 commonName VAR_001536
VAR_001536 disease phenotype-associated
VAR_001536 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001538 commonName VAR_001538
VAR_001538 disease phenotype-associated
VAR_001538 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001539 commonName VAR_001539
VAR_001539 disease phenotype-associated
VAR_001539 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001540 commonName VAR_001540
VAR_001540 disease phenotype-associated
VAR_001540 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001541 commonName VAR_001541
VAR_001541 disease phenotype-associated
VAR_001541 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001542 commonName VAR_001542
VAR_001542 disease phenotype-associated
VAR_001542 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001543 commonName VAR_001543
VAR_001543 disease phenotype-associated
VAR_001543 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001544 commonName VAR_001544
VAR_001544 disease phenotype-associated
VAR_001544 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_001546 commonName VAR_001546
VAR_001546 disease phenotype-associated
VAR_001546 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201]
VAR_001547 commonName VAR_001547
VAR_001547 disease phenotype-associated
VAR_001547 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_001548 commonName VAR_001548
VAR_001548 disease phenotype-associated
VAR_001548 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001549 commonName VAR_001549
VAR_001549 disease phenotype-associated
VAR_001549 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001550 commonName VAR_001550
VAR_001550 disease phenotype-associated
VAR_001550 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001551 commonName VAR_001551
VAR_001551 disease phenotype-associated
VAR_001551 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001552 commonName VAR_001552
VAR_001552 disease phenotype-associated
VAR_001552 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001553 commonName VAR_001553
VAR_001553 disease phenotype-associated
VAR_001553 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001554 commonName VAR_001554
VAR_001554 disease phenotype-associated
VAR_001554 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001555 commonName VAR_001555
VAR_001555 disease phenotype-associated
VAR_001555 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001556 commonName VAR_001556
VAR_001556 disease phenotype-associated
VAR_001556 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_001558 commonName VAR_001558
VAR_001558 disease not phenotype-associated
VAR_001560 commonName VAR_001560
VAR_001560 disease not phenotype-associated
VAR_001561 commonName VAR_001561
VAR_001561 disease not phenotype-associated
VAR_001562 commonName VAR_001562
VAR_001562 disease phenotype-associated
VAR_001562 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001562 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
VAR_001563 commonName VAR_001563
VAR_001563 disease phenotype-associated
VAR_001563 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001564 commonName VAR_001564
VAR_001564 disease not phenotype-associated
VAR_001565 commonName VAR_001565
VAR_001565 disease phenotype-associated
VAR_001565 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_001565 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001565 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
VAR_001566 commonName VAR_001566
VAR_001566 disease phenotype-associated
VAR_001566 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001567 commonName VAR_001567
VAR_001567 disease phenotype-associated
VAR_001567 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001568 commonName VAR_001568
VAR_001568 disease phenotype-associated
VAR_001568 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_001568 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001569 commonName VAR_001569
VAR_001569 disease phenotype-associated
VAR_001569 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_001569 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001570 commonName VAR_001570
VAR_001570 disease phenotype-associated
VAR_001570 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001571 commonName VAR_001571
VAR_001571 disease phenotype-associated
VAR_001571 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001571 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
VAR_001572 commonName VAR_001572
VAR_001572 disease phenotype-associated
VAR_001572 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001573 commonName VAR_001573
VAR_001573 disease phenotype-associated
VAR_001573 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001574 commonName VAR_001574
VAR_001574 disease phenotype-associated
VAR_001574 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_001575 commonName VAR_001575
VAR_001575 disease phenotype-associated
VAR_001575 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
VAR_001575 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_001577 commonName VAR_001577
VAR_001577 disease phenotype-associated
VAR_001577 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_001578 commonName VAR_001578
VAR_001578 disease phenotype-associated
VAR_001578 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_001579 commonName VAR_001579
VAR_001579 disease phenotype-associated
VAR_001579 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_001580 commonName VAR_001580
VAR_001580 disease phenotype-associated
VAR_001580 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_001581 commonName VAR_001581
VAR_001581 disease phenotype-associated
VAR_001581 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_001582 commonName VAR_001582
VAR_001582 disease phenotype-associated
VAR_001582 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001583 commonName VAR_001583
VAR_001583 disease not phenotype-associated
VAR_001584 commonName VAR_001584
VAR_001584 disease phenotype-associated
VAR_001584 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001585 commonName VAR_001585
VAR_001585 disease phenotype-associated
VAR_001585 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001586 commonName VAR_001586
VAR_001586 disease phenotype-associated
VAR_001586 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001586 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001587 commonName VAR_001587
VAR_001587 disease phenotype-associated
VAR_001587 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001588 commonName VAR_001588
VAR_001588 disease phenotype-associated
VAR_001588 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001589 commonName VAR_001589
VAR_001589 disease phenotype-associated
VAR_001589 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001589 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001590 commonName VAR_001590
VAR_001590 disease phenotype-associated
VAR_001590 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001590 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001591 commonName VAR_001591
VAR_001591 disease phenotype-associated
VAR_001591 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001592 commonName VAR_001592
VAR_001592 disease phenotype-associated
VAR_001592 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001593 commonName VAR_001593
VAR_001593 disease phenotype-associated
VAR_001593 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001594 commonName VAR_001594
VAR_001594 disease phenotype-associated
VAR_001594 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001595 commonName VAR_001595
VAR_001595 disease phenotype-associated
VAR_001595 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001596 commonName VAR_001596
VAR_001596 disease phenotype-associated
VAR_001596 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001597 commonName VAR_001597
VAR_001597 disease not phenotype-associated
VAR_001598 commonName VAR_001598
VAR_001598 disease phenotype-associated
VAR_001598 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001599 commonName VAR_001599
VAR_001599 disease phenotype-associated
VAR_001599 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001599 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001600 commonName VAR_001600
VAR_001600 disease phenotype-associated
VAR_001600 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001601 commonName VAR_001601
VAR_001601 disease phenotype-associated
VAR_001601 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001602 commonName VAR_001602
VAR_001602 disease phenotype-associated
VAR_001602 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001603 commonName VAR_001603
VAR_001603 disease phenotype-associated
VAR_001603 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001603 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001604 commonName VAR_001604
VAR_001604 disease phenotype-associated
VAR_001604 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001605 commonName VAR_001605
VAR_001605 disease phenotype-associated
VAR_001605 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001606 commonName VAR_001606
VAR_001606 disease not phenotype-associated
VAR_001607 commonName VAR_001607
VAR_001607 disease phenotype-associated
VAR_001607 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001608 commonName VAR_001608
VAR_001608 disease phenotype-associated
VAR_001608 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001609 commonName VAR_001609
VAR_001609 disease phenotype-associated
VAR_001609 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001610 commonName VAR_001610
VAR_001610 disease phenotype-associated
VAR_001610 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001611 commonName VAR_001611
VAR_001611 disease phenotype-associated
VAR_001611 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001611 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001612 commonName VAR_001612
VAR_001612 disease phenotype-associated
VAR_001612 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001612 phenoCommon Thomsen disease (THD) [MIM:160800]
VAR_001613 commonName VAR_001613
VAR_001613 disease phenotype-associated
VAR_001613 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700]
VAR_001616 commonName VAR_001616
VAR_001616 disease phenotype-associated
VAR_001616 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_001617 commonName VAR_001617
VAR_001617 disease phenotype-associated
VAR_001617 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_001618 commonName VAR_001618
VAR_001618 disease phenotype-associated
VAR_001618 phenoCommon Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554]
VAR_001619 commonName VAR_001619
VAR_001619 disease phenotype-associated
VAR_001619 phenoCommon Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
VAR_001620 commonName VAR_001620
VAR_001620 disease phenotype-associated
VAR_001620 phenoCommon Nephrolithiasis type 1 (NPHL1) [MIM:310468]
VAR_001621 commonName VAR_001621
VAR_001621 disease phenotype-associated
VAR_001621 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_001622 commonName VAR_001622
VAR_001622 disease phenotype-associated
VAR_001622 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_001623 commonName VAR_001623
VAR_001623 disease phenotype-associated
VAR_001623 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_001624 commonName VAR_001624
VAR_001624 disease phenotype-associated
VAR_001624 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364]
VAR_001625 commonName VAR_001625
VAR_001625 disease phenotype-associated
VAR_001625 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364]
VAR_001626 commonName VAR_001626
VAR_001626 disease phenotype-associated
VAR_001626 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364]
VAR_001627 commonName VAR_001627
VAR_001627 disease phenotype-associated
VAR_001627 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364]
VAR_001628 commonName VAR_001628
VAR_001628 disease phenotype-associated
VAR_001628 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364]
VAR_001633 commonName VAR_001633
VAR_001633 disease not phenotype-associated
VAR_001634 commonName VAR_001634
VAR_001635 commonName VAR_001635
VAR_001635 disease not phenotype-associated
VAR_001636 commonName VAR_001636
VAR_001637 commonName VAR_001637
VAR_001638 commonName VAR_001638
VAR_001638 disease not phenotype-associated
VAR_001639 commonName VAR_001639
VAR_001639 disease not phenotype-associated
VAR_001640 commonName VAR_001640
VAR_001640 disease not phenotype-associated
VAR_001641 commonName VAR_001641
VAR_001641 disease not phenotype-associated
VAR_001642 commonName VAR_001642
VAR_001642 disease not phenotype-associated
VAR_001643 commonName VAR_001643
VAR_001643 disease not phenotype-associated
VAR_001644 commonName VAR_001644
VAR_001644 disease phenotype-associated
VAR_001644 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001645 commonName VAR_001645
VAR_001645 disease phenotype-associated
VAR_001645 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001646 commonName VAR_001646
VAR_001646 disease phenotype-associated
VAR_001646 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001647 commonName VAR_001647
VAR_001647 disease phenotype-associated
VAR_001647 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001648 commonName VAR_001648
VAR_001648 disease phenotype-associated
VAR_001648 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001649 commonName VAR_001649
VAR_001649 disease phenotype-associated
VAR_001649 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001650 commonName VAR_001650
VAR_001650 disease phenotype-associated
VAR_001650 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001651 commonName VAR_001651
VAR_001651 disease phenotype-associated
VAR_001651 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001652 commonName VAR_001652
VAR_001652 disease phenotype-associated
VAR_001652 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001653 commonName VAR_001653
VAR_001653 disease phenotype-associated
VAR_001653 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001654 commonName VAR_001654
VAR_001654 disease phenotype-associated
VAR_001654 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001655 commonName VAR_001655
VAR_001656 commonName VAR_001656
VAR_001656 disease phenotype-associated
VAR_001656 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001657 commonName VAR_001657
VAR_001657 disease phenotype-associated
VAR_001657 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001658 commonName VAR_001658
VAR_001658 disease phenotype-associated
VAR_001658 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001659 commonName VAR_001659
VAR_001659 disease phenotype-associated
VAR_001659 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001660 commonName VAR_001660
VAR_001661 commonName VAR_001661
VAR_001661 disease phenotype-associated
VAR_001661 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001662 commonName VAR_001662
VAR_001662 disease phenotype-associated
VAR_001662 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001663 commonName VAR_001663
VAR_001663 disease phenotype-associated
VAR_001663 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001664 commonName VAR_001664
VAR_001664 disease phenotype-associated
VAR_001664 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001665 commonName VAR_001665
VAR_001665 disease phenotype-associated
VAR_001665 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001666 commonName VAR_001666
VAR_001666 disease phenotype-associated
VAR_001666 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001666 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001666 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001667 commonName VAR_001667
VAR_001667 disease phenotype-associated
VAR_001667 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001668 commonName VAR_001668
VAR_001668 disease phenotype-associated
VAR_001668 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001669 commonName VAR_001669
VAR_001669 disease phenotype-associated
VAR_001669 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001670 commonName VAR_001670
VAR_001670 disease phenotype-associated
VAR_001670 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001671 commonName VAR_001671
VAR_001671 disease not phenotype-associated
VAR_001672 commonName VAR_001672
VAR_001672 disease phenotype-associated
VAR_001672 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001673 commonName VAR_001673
VAR_001673 disease phenotype-associated
VAR_001673 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001673 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001674 commonName VAR_001674
VAR_001674 disease phenotype-associated
VAR_001674 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001674 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001676 commonName VAR_001676
VAR_001676 disease phenotype-associated
VAR_001676 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001677 commonName VAR_001677
VAR_001677 disease phenotype-associated
VAR_001677 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001678 commonName VAR_001678
VAR_001678 disease phenotype-associated
VAR_001678 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001679 commonName VAR_001679
VAR_001679 disease phenotype-associated
VAR_001679 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001680 commonName VAR_001680
VAR_001680 disease phenotype-associated
VAR_001680 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001681 commonName VAR_001681
VAR_001681 disease phenotype-associated
VAR_001681 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001682 commonName VAR_001682
VAR_001682 disease phenotype-associated
VAR_001682 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001683 commonName VAR_001683
VAR_001683 disease phenotype-associated
VAR_001683 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001684 commonName VAR_001684
VAR_001684 disease phenotype-associated
VAR_001684 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001685 commonName VAR_001685
VAR_001685 disease phenotype-associated
VAR_001685 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001686 commonName VAR_001686
VAR_001686 disease phenotype-associated
VAR_001686 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001687 commonName VAR_001687
VAR_001687 disease phenotype-associated
VAR_001687 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001688 commonName VAR_001688
VAR_001688 disease phenotype-associated
VAR_001688 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001689 commonName VAR_001689
VAR_001689 disease phenotype-associated
VAR_001689 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001690 commonName VAR_001690
VAR_001690 disease phenotype-associated
VAR_001690 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001691 commonName VAR_001691
VAR_001691 disease not phenotype-associated
VAR_001692 commonName VAR_001692
VAR_001692 disease phenotype-associated
VAR_001692 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001693 commonName VAR_001693
VAR_001693 disease phenotype-associated
VAR_001693 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001694 commonName VAR_001694
VAR_001694 disease phenotype-associated
VAR_001694 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001695 commonName VAR_001695
VAR_001695 disease phenotype-associated
VAR_001695 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001696 commonName VAR_001696
VAR_001696 disease phenotype-associated
VAR_001696 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001697 commonName VAR_001697
VAR_001697 disease phenotype-associated
VAR_001697 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001697 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001698 commonName VAR_001698
VAR_001698 disease phenotype-associated
VAR_001698 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001699 commonName VAR_001699
VAR_001699 disease phenotype-associated
VAR_001699 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001700 commonName VAR_001700
VAR_001700 disease phenotype-associated
VAR_001700 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001701 commonName VAR_001701
VAR_001701 disease phenotype-associated
VAR_001701 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001702 commonName VAR_001702
VAR_001702 disease phenotype-associated
VAR_001702 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001703 commonName VAR_001703
VAR_001703 disease phenotype-associated
VAR_001703 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001704 commonName VAR_001704
VAR_001704 disease phenotype-associated
VAR_001704 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001705 commonName VAR_001705
VAR_001705 disease phenotype-associated
VAR_001705 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001705 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001706 commonName VAR_001706
VAR_001706 disease phenotype-associated
VAR_001706 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001708 commonName VAR_001708
VAR_001708 disease phenotype-associated
VAR_001708 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001709 commonName VAR_001709
VAR_001709 disease phenotype-associated
VAR_001709 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001709 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001710 commonName VAR_001710
VAR_001710 disease phenotype-associated
VAR_001710 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001711 commonName VAR_001711
VAR_001711 disease phenotype-associated
VAR_001711 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001712 commonName VAR_001712
VAR_001712 disease not phenotype-associated
VAR_001713 commonName VAR_001713
VAR_001713 disease phenotype-associated
VAR_001713 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001714 commonName VAR_001714
VAR_001714 disease phenotype-associated
VAR_001714 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001714 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001715 commonName VAR_001715
VAR_001715 disease phenotype-associated
VAR_001715 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001716 commonName VAR_001716
VAR_001716 disease phenotype-associated
VAR_001716 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001717 commonName VAR_001717
VAR_001717 disease phenotype-associated
VAR_001717 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001718 commonName VAR_001718
VAR_001718 disease phenotype-associated
VAR_001718 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001719 commonName VAR_001719
VAR_001719 disease phenotype-associated
VAR_001719 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001720 commonName VAR_001720
VAR_001720 disease phenotype-associated
VAR_001720 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001721 commonName VAR_001721
VAR_001721 disease phenotype-associated
VAR_001721 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001722 commonName VAR_001722
VAR_001722 disease phenotype-associated
VAR_001722 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001723 commonName VAR_001723
VAR_001723 disease phenotype-associated
VAR_001723 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001724 commonName VAR_001724
VAR_001724 disease phenotype-associated
VAR_001724 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001725 commonName VAR_001725
VAR_001725 disease phenotype-associated
VAR_001725 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001726 commonName VAR_001726
VAR_001726 disease phenotype-associated
VAR_001726 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001727 commonName VAR_001727
VAR_001727 disease phenotype-associated
VAR_001727 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001728 commonName VAR_001728
VAR_001728 disease phenotype-associated
VAR_001728 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001729 commonName VAR_001729
VAR_001729 disease phenotype-associated
VAR_001729 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001729 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001730 commonName VAR_001730
VAR_001730 disease phenotype-associated
VAR_001730 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001731 commonName VAR_001731
VAR_001731 disease phenotype-associated
VAR_001731 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001732 commonName VAR_001732
VAR_001732 disease phenotype-associated
VAR_001732 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001733 commonName VAR_001733
VAR_001733 disease phenotype-associated
VAR_001733 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001735 commonName VAR_001735
VAR_001735 disease phenotype-associated
VAR_001735 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001736 commonName VAR_001736
VAR_001736 disease not phenotype-associated
VAR_001737 commonName VAR_001737
VAR_001737 disease phenotype-associated
VAR_001737 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001738 commonName VAR_001738
VAR_001738 disease phenotype-associated
VAR_001738 phenoCommon Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]
VAR_001739 commonName VAR_001739
VAR_001739 disease phenotype-associated
VAR_001739 phenoCommon Czech dysplasia (CZECHD) [MIM:609162]
VAR_001741 commonName VAR_001741
VAR_001741 disease phenotype-associated
VAR_001741 phenoCommon Kniest dysplasia (KD) [MIM:156550]
VAR_001742 commonName VAR_001742
VAR_001743 commonName VAR_001743
VAR_001743 disease phenotype-associated
VAR_001743 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001744 commonName VAR_001744
VAR_001744 disease phenotype-associated
VAR_001744 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001745 commonName VAR_001745
VAR_001745 disease phenotype-associated
VAR_001745 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
VAR_001746 commonName VAR_001746
VAR_001746 disease phenotype-associated
VAR_001746 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
VAR_001747 commonName VAR_001747
VAR_001747 disease phenotype-associated
VAR_001747 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001748 commonName VAR_001748
VAR_001748 disease phenotype-associated
VAR_001748 phenoCommon Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864]
VAR_001749 commonName VAR_001749
VAR_001749 disease phenotype-associated
VAR_001749 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001751 commonName VAR_001751
VAR_001752 commonName VAR_001752
VAR_001752 disease phenotype-associated
VAR_001752 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001752 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001753 commonName VAR_001753
VAR_001753 disease phenotype-associated
VAR_001753 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
VAR_001754 commonName VAR_001754
VAR_001754 disease phenotype-associated
VAR_001754 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001755 commonName VAR_001755
VAR_001755 disease phenotype-associated
VAR_001755 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001756 commonName VAR_001756
VAR_001757 commonName VAR_001757
VAR_001757 disease phenotype-associated
VAR_001757 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001758 commonName VAR_001758
VAR_001759 commonName VAR_001759
VAR_001759 disease phenotype-associated
VAR_001759 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001760 commonName VAR_001760
VAR_001761 commonName VAR_001761
VAR_001761 disease phenotype-associated
VAR_001761 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001763 commonName VAR_001763
VAR_001763 disease phenotype-associated
VAR_001763 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001764 commonName VAR_001764
VAR_001764 disease phenotype-associated
VAR_001764 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_001765 commonName VAR_001765
VAR_001765 disease phenotype-associated
VAR_001765 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_001767 commonName VAR_001767
VAR_001767 disease phenotype-associated
VAR_001767 phenoCommon Aortic aneurysm abdominal (AAA) [MIM:100070]
VAR_001768 commonName VAR_001768
VAR_001768 disease phenotype-associated
VAR_001768 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001769 commonName VAR_001769
VAR_001769 disease phenotype-associated
VAR_001769 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001770 commonName VAR_001770
VAR_001770 disease phenotype-associated
VAR_001770 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001771 commonName VAR_001771
VAR_001772 commonName VAR_001772
VAR_001772 disease phenotype-associated
VAR_001772 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001773 commonName VAR_001773
VAR_001773 disease phenotype-associated
VAR_001773 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001774 commonName VAR_001774
VAR_001774 disease phenotype-associated
VAR_001774 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001775 commonName VAR_001775
VAR_001775 disease not phenotype-associated
VAR_001776 commonName VAR_001776
VAR_001776 disease not phenotype-associated
VAR_001777 commonName VAR_001777
VAR_001777 disease phenotype-associated
VAR_001777 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001778 commonName VAR_001778
VAR_001778 disease not phenotype-associated
VAR_001779 commonName VAR_001779
VAR_001779 disease phenotype-associated
VAR_001779 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001780 commonName VAR_001780
VAR_001780 disease phenotype-associated
VAR_001780 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001781 commonName VAR_001781
VAR_001781 disease phenotype-associated
VAR_001781 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001782 commonName VAR_001782
VAR_001782 disease phenotype-associated
VAR_001782 phenoCommon Aortic aneurysm abdominal (AAA) [MIM:100070]
VAR_001783 commonName VAR_001783
VAR_001783 disease phenotype-associated
VAR_001783 phenoCommon Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]
VAR_001784 commonName VAR_001784
VAR_001784 disease phenotype-associated
VAR_001784 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001785 commonName VAR_001785
VAR_001785 disease phenotype-associated
VAR_001785 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001786 commonName VAR_001786
VAR_001786 disease phenotype-associated
VAR_001786 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001787 commonName VAR_001787
VAR_001787 disease phenotype-associated
VAR_001787 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001788 commonName VAR_001788
VAR_001788 disease phenotype-associated
VAR_001788 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001789 commonName VAR_001789
VAR_001789 disease phenotype-associated
VAR_001789 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001790 commonName VAR_001790
VAR_001790 disease phenotype-associated
VAR_001790 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001791 commonName VAR_001791
VAR_001791 disease phenotype-associated
VAR_001791 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001792 commonName VAR_001792
VAR_001792 disease phenotype-associated
VAR_001792 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001793 commonName VAR_001793
VAR_001793 disease phenotype-associated
VAR_001793 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001794 commonName VAR_001794
VAR_001794 disease phenotype-associated
VAR_001794 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001795 commonName VAR_001795
VAR_001795 disease phenotype-associated
VAR_001795 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001796 commonName VAR_001796
VAR_001796 disease phenotype-associated
VAR_001796 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001797 commonName VAR_001797
VAR_001797 disease phenotype-associated
VAR_001797 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001798 commonName VAR_001798
VAR_001799 commonName VAR_001799
VAR_001799 disease phenotype-associated
VAR_001799 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001800 commonName VAR_001800
VAR_001800 disease phenotype-associated
VAR_001800 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001801 commonName VAR_001801
VAR_001801 disease phenotype-associated
VAR_001801 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001802 commonName VAR_001802
VAR_001802 disease phenotype-associated
VAR_001802 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001803 commonName VAR_001803
VAR_001803 disease phenotype-associated
VAR_001803 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001804 commonName VAR_001804
VAR_001804 disease phenotype-associated
VAR_001804 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001805 commonName VAR_001805
VAR_001805 disease phenotype-associated
VAR_001805 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001806 commonName VAR_001806
VAR_001806 disease phenotype-associated
VAR_001806 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001807 commonName VAR_001807
VAR_001807 disease phenotype-associated
VAR_001807 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_001808 commonName VAR_001808
VAR_001808 disease phenotype-associated
VAR_001808 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_001809 commonName VAR_001809
VAR_001809 disease phenotype-associated
VAR_001809 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001810 commonName VAR_001810
VAR_001810 disease phenotype-associated
VAR_001810 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001811 commonName VAR_001811
VAR_001811 disease phenotype-associated
VAR_001811 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001812 commonName VAR_001812
VAR_001812 disease phenotype-associated
VAR_001812 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001813 commonName VAR_001813
VAR_001813 disease phenotype-associated
VAR_001813 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001814 commonName VAR_001814
VAR_001814 disease phenotype-associated
VAR_001814 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001815 commonName VAR_001815
VAR_001815 disease phenotype-associated
VAR_001815 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001816 commonName VAR_001816
VAR_001816 disease phenotype-associated
VAR_001816 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001817 commonName VAR_001817
VAR_001817 disease phenotype-associated
VAR_001817 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001818 commonName VAR_001818
VAR_001818 disease phenotype-associated
VAR_001818 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001818 phenoCommon Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]
VAR_001819 commonName VAR_001819
VAR_001819 disease phenotype-associated
VAR_001819 phenoCommon Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
VAR_001820 commonName VAR_001820
VAR_001820 disease phenotype-associated
VAR_001820 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001821 commonName VAR_001821
VAR_001821 disease phenotype-associated
VAR_001821 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001822 commonName VAR_001822
VAR_001822 disease phenotype-associated
VAR_001822 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001823 commonName VAR_001823
VAR_001823 disease phenotype-associated
VAR_001823 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001825 commonName VAR_001825
VAR_001825 disease phenotype-associated
VAR_001825 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001826 commonName VAR_001826
VAR_001826 disease phenotype-associated
VAR_001826 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001827 commonName VAR_001827
VAR_001827 disease phenotype-associated
VAR_001827 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_001828 commonName VAR_001828
VAR_001828 disease phenotype-associated
VAR_001828 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
VAR_001829 commonName VAR_001829
VAR_001829 disease not phenotype-associated
VAR_001830 commonName VAR_001830
VAR_001830 disease phenotype-associated
VAR_001830 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001831 commonName VAR_001831
VAR_001831 disease phenotype-associated
VAR_001831 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001832 commonName VAR_001832
VAR_001832 disease phenotype-associated
VAR_001832 phenoCommon Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]
VAR_001833 commonName VAR_001833
VAR_001833 disease phenotype-associated
VAR_001833 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001834 commonName VAR_001834
VAR_001834 disease phenotype-associated
VAR_001834 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001835 commonName VAR_001835
VAR_001835 disease phenotype-associated
VAR_001835 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_001836 commonName VAR_001836
VAR_001836 disease phenotype-associated
VAR_001836 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001837 commonName VAR_001837
VAR_001837 disease phenotype-associated
VAR_001837 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_001838 commonName VAR_001838
VAR_001838 disease phenotype-associated
VAR_001838 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001839 commonName VAR_001839
VAR_001839 disease phenotype-associated
VAR_001839 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001840 commonName VAR_001840
VAR_001840 disease not phenotype-associated
VAR_001841 commonName VAR_001841
VAR_001841 disease phenotype-associated
VAR_001841 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001842 commonName VAR_001842
VAR_001842 disease phenotype-associated
VAR_001842 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001843 commonName VAR_001843
VAR_001843 disease phenotype-associated
VAR_001843 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001844 commonName VAR_001844
VAR_001844 disease phenotype-associated
VAR_001844 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001845 commonName VAR_001845
VAR_001845 disease phenotype-associated
HbVar.674 protEffect HBD 117(G18) Arg>His
VAR_001845 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001846 commonName VAR_001846
VAR_001846 disease phenotype-associated
VAR_001846 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001847 commonName VAR_001847
VAR_001847 disease phenotype-associated
VAR_001847 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001848 commonName VAR_001848
VAR_001848 disease phenotype-associated
VAR_001848 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001849 commonName VAR_001849
VAR_001849 disease phenotype-associated
VAR_001849 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001850 commonName VAR_001850
VAR_001850 disease phenotype-associated
VAR_001850 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_001852 commonName VAR_001852
VAR_001852 disease phenotype-associated
VAR_001852 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001853 commonName VAR_001853
VAR_001853 disease not phenotype-associated
VAR_001854 commonName VAR_001854
VAR_001854 disease not phenotype-associated
VAR_001855 commonName VAR_001855
VAR_001855 disease phenotype-associated
VAR_001855 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001856 commonName VAR_001856
VAR_001856 disease phenotype-associated
VAR_001856 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001857 commonName VAR_001857
VAR_001857 disease phenotype-associated
VAR_001857 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001858 commonName VAR_001858
VAR_001858 disease phenotype-associated
VAR_001858 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001860 commonName VAR_001860
VAR_001860 disease phenotype-associated
VAR_001860 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001861 commonName VAR_001861
VAR_001861 disease phenotype-associated
VAR_001861 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001862 commonName VAR_001862
VAR_001862 disease phenotype-associated
VAR_001862 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001863 commonName VAR_001863
VAR_001863 disease phenotype-associated
VAR_001863 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001864 commonName VAR_001864
VAR_001864 disease phenotype-associated
VAR_001864 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001865 commonName VAR_001865
VAR_001865 disease phenotype-associated
VAR_001865 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001866 commonName VAR_001866
VAR_001866 disease phenotype-associated
VAR_001866 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001867 commonName VAR_001867
VAR_001867 disease not phenotype-associated
VAR_001868 commonName VAR_001868
VAR_001868 disease phenotype-associated
VAR_001868 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001869 commonName VAR_001869
VAR_001869 disease phenotype-associated
VAR_001869 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001870 commonName VAR_001870
VAR_001870 disease phenotype-associated
VAR_001870 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001871 commonName VAR_001871
VAR_001871 disease phenotype-associated
VAR_001871 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001872 commonName VAR_001872
VAR_001872 disease phenotype-associated
VAR_001872 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001873 commonName VAR_001873
VAR_001873 disease phenotype-associated
VAR_001873 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001874 commonName VAR_001874
VAR_001874 disease phenotype-associated
VAR_001874 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001875 commonName VAR_001875
VAR_001875 disease phenotype-associated
VAR_001875 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001875 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001876 commonName VAR_001876
VAR_001877 commonName VAR_001877
VAR_001877 disease phenotype-associated
VAR_001877 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001878 commonName VAR_001878
VAR_001878 disease phenotype-associated
VAR_001878 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001879 commonName VAR_001879
VAR_001879 disease phenotype-associated
VAR_001879 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001880 commonName VAR_001880
VAR_001880 disease not phenotype-associated
VAR_001881 commonName VAR_001881
VAR_001881 disease phenotype-associated
VAR_001881 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001882 commonName VAR_001882
VAR_001882 disease phenotype-associated
VAR_001882 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001883 commonName VAR_001883
VAR_001883 disease phenotype-associated
VAR_001883 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001884 commonName VAR_001884
VAR_001884 disease phenotype-associated
VAR_001884 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001885 commonName VAR_001885
VAR_001885 disease phenotype-associated
VAR_001885 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001886 commonName VAR_001886
VAR_001886 disease phenotype-associated
VAR_001886 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001887 commonName VAR_001887
VAR_001887 disease phenotype-associated
VAR_001887 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001888 commonName VAR_001888
VAR_001888 disease phenotype-associated
VAR_001888 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001889 commonName VAR_001889
VAR_001889 disease not phenotype-associated
VAR_001890 commonName VAR_001890
VAR_001890 disease phenotype-associated
VAR_001890 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_001891 commonName VAR_001891
VAR_001891 disease phenotype-associated
VAR_001891 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001892 commonName VAR_001892
VAR_001892 disease phenotype-associated
VAR_001892 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001892 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001893 commonName VAR_001893
VAR_001893 disease phenotype-associated
VAR_001893 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001894 commonName VAR_001894
VAR_001894 disease phenotype-associated
VAR_001894 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001895 commonName VAR_001895
VAR_001895 disease phenotype-associated
VAR_001895 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001896 commonName VAR_001896
VAR_001896 disease phenotype-associated
VAR_001896 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001897 commonName VAR_001897
VAR_001897 disease phenotype-associated
VAR_001897 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001897 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001898 commonName VAR_001898
VAR_001898 disease not phenotype-associated
VAR_001899 commonName VAR_001899
VAR_001899 disease phenotype-associated
VAR_001899 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001900 commonName VAR_001900
VAR_001900 disease phenotype-associated
VAR_001900 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_001901 commonName VAR_001901
VAR_001901 disease phenotype-associated
VAR_001901 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001902 commonName VAR_001902
VAR_001902 disease phenotype-associated
VAR_001902 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_001903 commonName VAR_001903
VAR_001903 disease not phenotype-associated
VAR_001904 commonName VAR_001904
VAR_001904 disease phenotype-associated
VAR_001904 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_001905 commonName VAR_001905
VAR_001905 disease not phenotype-associated
VAR_001906 commonName VAR_001906
VAR_001906 disease not phenotype-associated
VAR_001908 commonName VAR_001908
VAR_001908 disease not phenotype-associated
VAR_001909 commonName VAR_001909
VAR_001909 disease not phenotype-associated
VAR_001910 commonName VAR_001910
VAR_001910 disease phenotype-associated
VAR_001910 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_001911 commonName VAR_001911
VAR_001911 disease not phenotype-associated
VAR_001912 commonName VAR_001912
VAR_001912 disease phenotype-associated
VAR_001912 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_001913 commonName VAR_001913
VAR_001913 disease phenotype-associated
VAR_001913 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_001975 commonName VAR_001975
VAR_001975 disease not phenotype-associated
VAR_001978 commonName VAR_001978
VAR_001978 disease not phenotype-associated
VAR_001979 commonName VAR_001979
VAR_001979 disease not phenotype-associated
VAR_001980 commonName VAR_001980
VAR_001980 disease not phenotype-associated
VAR_001981 commonName VAR_001981
VAR_001981 disease not phenotype-associated
VAR_001982 commonName VAR_001982
VAR_001982 disease not phenotype-associated
VAR_001983 commonName VAR_001983
VAR_001983 disease not phenotype-associated
VAR_001984 commonName VAR_001984
VAR_001984 disease not phenotype-associated
VAR_001985 commonName VAR_001985
VAR_001985 disease phenotype-associated
VAR_001985 phenoCommon Complement component 3 deficiency (C3D) [MIM:613779]
VAR_001986 commonName VAR_001986
VAR_001986 disease phenotype-associated
VAR_001986 phenoCommon Complement component 3 deficiency (C3D) [MIM:613779]
VAR_001996 commonName VAR_001996
VAR_001996 disease not phenotype-associated
VAR_001997 commonName VAR_001997
VAR_001997 disease not phenotype-associated
VAR_001998 commonName VAR_001998
VAR_001999 commonName VAR_001999
VAR_002000 commonName VAR_002000
VAR_002000 disease not phenotype-associated
VAR_002001 commonName VAR_002001
VAR_002001 disease not phenotype-associated
VAR_002002 commonName VAR_002002
VAR_002002 disease phenotype-associated
VAR_002002 phenoCommon Properdin deficiency (PFD) [MIM:312060]
VAR_002003 commonName VAR_002003
VAR_002003 disease phenotype-associated
VAR_002003 phenoCommon Properdin deficiency (PFD) [MIM:312060]
VAR_002004 commonName VAR_002004
VAR_002004 disease phenotype-associated
VAR_002004 phenoCommon Properdin deficiency (PFD) [MIM:312060]
VAR_002005 commonName VAR_002005
VAR_002005 disease phenotype-associated
VAR_002005 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]
VAR_002006 commonName VAR_002006
VAR_002006 disease phenotype-associated
VAR_002006 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002007 commonName VAR_002007
VAR_002007 disease phenotype-associated
VAR_002007 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002008 commonName VAR_002008
VAR_002008 disease phenotype-associated
VAR_002008 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002009 commonName VAR_002009
VAR_002009 disease phenotype-associated
VAR_002009 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002010 commonName VAR_002010
VAR_002010 disease phenotype-associated
VAR_002010 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002011 commonName VAR_002011
VAR_002011 disease phenotype-associated
VAR_002011 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002012 commonName VAR_002012
VAR_002012 disease phenotype-associated
VAR_002012 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002013 commonName VAR_002013
VAR_002013 disease phenotype-associated
VAR_002013 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002014 commonName VAR_002014
VAR_002014 disease phenotype-associated
VAR_002014 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002015 commonName VAR_002015
VAR_002015 disease phenotype-associated
VAR_002015 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002016 commonName VAR_002016
VAR_002016 disease phenotype-associated
VAR_002016 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002017 commonName VAR_002017
VAR_002017 disease phenotype-associated
VAR_002017 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002018 commonName VAR_002018
VAR_002018 disease phenotype-associated
VAR_002018 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002019 commonName VAR_002019
VAR_002019 disease phenotype-associated
VAR_002019 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002020 commonName VAR_002020
VAR_002020 disease phenotype-associated
VAR_002020 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002021 commonName VAR_002021
VAR_002021 disease phenotype-associated
VAR_002021 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002022 commonName VAR_002022
VAR_002022 disease phenotype-associated
VAR_002022 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002023 commonName VAR_002023
VAR_002023 disease phenotype-associated
VAR_002023 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002024 commonName VAR_002024
VAR_002024 disease phenotype-associated
VAR_002024 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002025 commonName VAR_002025
VAR_002025 disease phenotype-associated
VAR_002025 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002026 commonName VAR_002026
VAR_002026 disease phenotype-associated
VAR_002026 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002028 commonName VAR_002028
VAR_002028 disease phenotype-associated
VAR_002028 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002029 commonName VAR_002029
VAR_002029 disease phenotype-associated
VAR_002029 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002030 commonName VAR_002030
VAR_002030 disease phenotype-associated
VAR_002030 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002031 commonName VAR_002031
VAR_002031 disease phenotype-associated
VAR_002031 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002032 commonName VAR_002032
VAR_002032 disease phenotype-associated
VAR_002032 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002033 commonName VAR_002033
VAR_002033 disease phenotype-associated
VAR_002033 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002034 commonName VAR_002034
VAR_002034 disease phenotype-associated
VAR_002034 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002035 commonName VAR_002035
VAR_002035 disease phenotype-associated
VAR_002035 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002036 commonName VAR_002036
VAR_002036 disease phenotype-associated
VAR_002036 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002037 commonName VAR_002037
VAR_002037 disease phenotype-associated
VAR_002037 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002038 commonName VAR_002038
VAR_002038 disease phenotype-associated
VAR_002038 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002039 commonName VAR_002039
VAR_002039 disease phenotype-associated
VAR_002039 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002040 commonName VAR_002040
VAR_002040 disease phenotype-associated
VAR_002040 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002041 commonName VAR_002041
VAR_002041 disease phenotype-associated
VAR_002041 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002042 commonName VAR_002042
VAR_002042 disease phenotype-associated
VAR_002042 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002043 commonName VAR_002043
VAR_002043 disease phenotype-associated
VAR_002043 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002044 commonName VAR_002044
VAR_002045 commonName VAR_002045
VAR_002045 disease phenotype-associated
VAR_002045 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002046 commonName VAR_002046
VAR_002046 disease phenotype-associated
VAR_002046 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002047 commonName VAR_002047
VAR_002047 disease phenotype-associated
VAR_002047 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002048 commonName VAR_002048
VAR_002048 disease phenotype-associated
VAR_002048 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002049 commonName VAR_002049
VAR_002049 disease phenotype-associated
VAR_002049 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002051 commonName VAR_002051
VAR_002051 disease phenotype-associated
VAR_002051 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002052 commonName VAR_002052
VAR_002052 disease phenotype-associated
VAR_002052 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002053 commonName VAR_002053
VAR_002053 disease phenotype-associated
VAR_002053 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002054 commonName VAR_002054
VAR_002054 disease phenotype-associated
VAR_002054 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002055 commonName VAR_002055
VAR_002055 disease phenotype-associated
VAR_002055 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002056 commonName VAR_002056
VAR_002056 disease phenotype-associated
VAR_002056 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002057 commonName VAR_002057
VAR_002057 disease phenotype-associated
VAR_002057 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002058 commonName VAR_002058
VAR_002058 disease phenotype-associated
VAR_002058 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002059 commonName VAR_002059
VAR_002059 disease phenotype-associated
VAR_002059 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002060 commonName VAR_002060
VAR_002060 disease phenotype-associated
VAR_002060 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002061 commonName VAR_002061
VAR_002061 disease phenotype-associated
VAR_002061 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002062 commonName VAR_002062
VAR_002062 disease phenotype-associated
VAR_002062 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002063 commonName VAR_002063
VAR_002063 disease phenotype-associated
VAR_002063 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002064 commonName VAR_002064
VAR_002064 disease phenotype-associated
VAR_002064 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002065 commonName VAR_002065
VAR_002065 disease phenotype-associated
VAR_002065 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002066 commonName VAR_002066
VAR_002066 disease phenotype-associated
VAR_002066 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002067 commonName VAR_002067
VAR_002067 disease phenotype-associated
VAR_002067 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002068 commonName VAR_002068
VAR_002068 disease phenotype-associated
VAR_002068 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002069 commonName VAR_002069
VAR_002069 disease phenotype-associated
VAR_002069 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002070 commonName VAR_002070
VAR_002070 disease phenotype-associated
VAR_002070 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002071 commonName VAR_002071
VAR_002071 disease phenotype-associated
VAR_002071 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002072 commonName VAR_002072
VAR_002072 disease phenotype-associated
VAR_002072 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002073 commonName VAR_002073
VAR_002073 disease phenotype-associated
VAR_002073 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002074 commonName VAR_002074
VAR_002074 disease phenotype-associated
VAR_002074 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002075 commonName VAR_002075
VAR_002075 disease phenotype-associated
VAR_002075 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002076 commonName VAR_002076
VAR_002076 disease phenotype-associated
VAR_002076 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002078 commonName VAR_002078
VAR_002078 disease phenotype-associated
VAR_002078 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002079 commonName VAR_002079
VAR_002079 disease phenotype-associated
VAR_002079 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002080 commonName VAR_002080
VAR_002080 disease phenotype-associated
VAR_002080 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002081 commonName VAR_002081
VAR_002081 disease phenotype-associated
VAR_002081 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002082 commonName VAR_002082
VAR_002082 disease phenotype-associated
VAR_002082 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002083 commonName VAR_002083
VAR_002083 disease phenotype-associated
VAR_002083 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002084 commonName VAR_002084
VAR_002084 disease phenotype-associated
VAR_002084 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002085 commonName VAR_002085
VAR_002085 disease phenotype-associated
VAR_002085 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002086 commonName VAR_002086
VAR_002086 disease phenotype-associated
VAR_002086 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002088 commonName VAR_002088
VAR_002088 disease phenotype-associated
VAR_002088 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002089 commonName VAR_002089
VAR_002089 disease phenotype-associated
VAR_002089 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002090 commonName VAR_002090
VAR_002090 disease phenotype-associated
VAR_002090 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002091 commonName VAR_002091
VAR_002091 disease phenotype-associated
VAR_002091 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002092 commonName VAR_002092
VAR_002092 disease phenotype-associated
VAR_002092 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002093 commonName VAR_002093
VAR_002093 disease phenotype-associated
VAR_002093 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002094 commonName VAR_002094
VAR_002094 disease phenotype-associated
VAR_002094 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002095 commonName VAR_002095
VAR_002095 disease phenotype-associated
VAR_002095 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002096 commonName VAR_002096
VAR_002096 disease phenotype-associated
VAR_002096 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002097 commonName VAR_002097
VAR_002097 disease phenotype-associated
VAR_002097 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002098 commonName VAR_002098
VAR_002098 disease phenotype-associated
VAR_002098 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002099 commonName VAR_002099
VAR_002099 disease phenotype-associated
VAR_002099 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002100 commonName VAR_002100
VAR_002100 disease phenotype-associated
VAR_002100 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002101 commonName VAR_002101
VAR_002101 disease phenotype-associated
VAR_002101 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002102 commonName VAR_002102
VAR_002102 disease phenotype-associated
VAR_002102 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002103 commonName VAR_002103
VAR_002104 commonName VAR_002104
VAR_002104 disease phenotype-associated
VAR_002104 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002105 commonName VAR_002105
VAR_002105 disease phenotype-associated
VAR_002105 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002106 commonName VAR_002106
VAR_002106 disease phenotype-associated
VAR_002106 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002107 commonName VAR_002107
VAR_002107 disease phenotype-associated
VAR_002107 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002108 commonName VAR_002108
VAR_002108 disease phenotype-associated
VAR_002108 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002109 commonName VAR_002109
VAR_002109 disease phenotype-associated
VAR_002109 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002110 commonName VAR_002110
VAR_002110 disease phenotype-associated
VAR_002110 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002111 commonName VAR_002111
VAR_002111 disease phenotype-associated
VAR_002111 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002112 commonName VAR_002112
VAR_002112 disease phenotype-associated
VAR_002112 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002114 commonName VAR_002114
VAR_002114 disease phenotype-associated
VAR_002114 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002115 commonName VAR_002115
VAR_002115 disease phenotype-associated
VAR_002115 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002116 commonName VAR_002116
VAR_002116 disease phenotype-associated
VAR_002116 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002117 commonName VAR_002117
VAR_002117 disease phenotype-associated
VAR_002117 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002119 commonName VAR_002119
VAR_002119 disease phenotype-associated
VAR_002119 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002120 commonName VAR_002120
VAR_002120 disease phenotype-associated
VAR_002120 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002121 commonName VAR_002121
VAR_002121 disease phenotype-associated
VAR_002121 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002122 commonName VAR_002122
VAR_002122 disease phenotype-associated
VAR_002122 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002123 commonName VAR_002123
VAR_002123 disease phenotype-associated
VAR_002123 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002124 commonName VAR_002124
VAR_002124 disease phenotype-associated
VAR_002124 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002125 commonName VAR_002125
VAR_002125 disease phenotype-associated
VAR_002125 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002126 commonName VAR_002126
VAR_002126 disease phenotype-associated
VAR_002126 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002127 commonName VAR_002127
VAR_002127 disease phenotype-associated
VAR_002127 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002129 commonName VAR_002129
VAR_002129 disease phenotype-associated
VAR_002129 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002130 commonName VAR_002130
VAR_002130 disease phenotype-associated
VAR_002130 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002131 commonName VAR_002131
VAR_002131 disease phenotype-associated
VAR_002131 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002132 commonName VAR_002132
VAR_002132 disease phenotype-associated
VAR_002132 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002133 commonName VAR_002133
VAR_002133 disease phenotype-associated
VAR_002133 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002134 commonName VAR_002134
VAR_002134 disease phenotype-associated
VAR_002134 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002135 commonName VAR_002135
VAR_002135 disease phenotype-associated
VAR_002135 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002136 commonName VAR_002136
VAR_002136 disease phenotype-associated
VAR_002136 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_002137 commonName VAR_002137
VAR_002137 disease not phenotype-associated
VAR_002138 commonName VAR_002138
VAR_002139 commonName VAR_002139
VAR_002139 disease phenotype-associated
VAR_002139 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_002140 commonName VAR_002140
VAR_002140 disease phenotype-associated
VAR_002140 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_002140 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]
VAR_002141 commonName VAR_002141
VAR_002141 disease phenotype-associated
VAR_002141 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_002142 commonName VAR_002142
VAR_002142 disease not phenotype-associated
VAR_002143 commonName VAR_002143
VAR_002143 disease phenotype-associated
VAR_002143 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_002144 commonName VAR_002144
VAR_002144 disease phenotype-associated
VAR_002144 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_002145 commonName VAR_002145
VAR_002145 disease phenotype-associated
VAR_002145 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_002146 commonName VAR_002146
VAR_002146 disease not phenotype-associated
VAR_002147 commonName VAR_002147
VAR_002147 disease phenotype-associated
VAR_002147 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_002148 commonName VAR_002148
VAR_002148 disease phenotype-associated
VAR_002148 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_002149 commonName VAR_002149
VAR_002149 disease phenotype-associated
VAR_002149 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_002150 commonName VAR_002150
VAR_002150 disease phenotype-associated
VAR_002150 phenoCommon Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644]
VAR_002152 commonName VAR_002152
VAR_002152 disease phenotype-associated
VAR_002152 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002153 commonName VAR_002153
VAR_002153 disease phenotype-associated
VAR_002153 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002154 commonName VAR_002154
VAR_002154 disease phenotype-associated
VAR_002154 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002155 commonName VAR_002155
VAR_002155 disease phenotype-associated
VAR_002155 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002156 commonName VAR_002156
VAR_002156 disease not phenotype-associated
VAR_002157 commonName VAR_002157
VAR_002157 disease phenotype-associated
VAR_002157 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002158 commonName VAR_002158
VAR_002158 disease not phenotype-associated
VAR_002159 commonName VAR_002159
VAR_002159 disease phenotype-associated
VAR_002159 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002160 commonName VAR_002160
VAR_002160 disease phenotype-associated
VAR_002160 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002162 commonName VAR_002162
VAR_002162 disease phenotype-associated
VAR_002162 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002163 commonName VAR_002163
VAR_002163 disease phenotype-associated
VAR_002163 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_002164 commonName VAR_002164
VAR_002165 commonName VAR_002165
VAR_002166 commonName VAR_002166
VAR_002170 commonName VAR_002170
VAR_002170 disease not phenotype-associated
VAR_002171 commonName VAR_002171
VAR_002171 disease phenotype-associated
VAR_002171 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002172 commonName VAR_002172
VAR_002172 disease phenotype-associated
VAR_002172 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002173 commonName VAR_002173
VAR_002173 disease phenotype-associated
VAR_002173 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002174 commonName VAR_002174
VAR_002174 disease phenotype-associated
VAR_002174 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002175 commonName VAR_002175
VAR_002175 disease phenotype-associated
VAR_002175 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002176 commonName VAR_002176
VAR_002176 disease phenotype-associated
VAR_002176 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002177 commonName VAR_002177
VAR_002177 disease phenotype-associated
VAR_002177 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002178 commonName VAR_002178
VAR_002178 disease phenotype-associated
VAR_002178 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002179 commonName VAR_002179
VAR_002179 disease phenotype-associated
VAR_002179 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002180 commonName VAR_002180
VAR_002180 disease phenotype-associated
VAR_002180 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002181 commonName VAR_002181
VAR_002181 disease phenotype-associated
VAR_002181 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002182 commonName VAR_002182
VAR_002182 disease phenotype-associated
VAR_002182 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002183 commonName VAR_002183
VAR_002183 disease phenotype-associated
VAR_002183 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002184 commonName VAR_002184
VAR_002184 disease phenotype-associated
VAR_002184 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002185 commonName VAR_002185
VAR_002185 disease phenotype-associated
VAR_002185 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002186 commonName VAR_002186
VAR_002186 disease phenotype-associated
VAR_002186 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002187 commonName VAR_002187
VAR_002187 disease phenotype-associated
VAR_002187 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002188 commonName VAR_002188
VAR_002188 disease phenotype-associated
VAR_002188 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002189 commonName VAR_002189
VAR_002189 disease phenotype-associated
VAR_002189 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002190 commonName VAR_002190
VAR_002190 disease phenotype-associated
VAR_002190 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002191 commonName VAR_002191
VAR_002191 disease phenotype-associated
VAR_002191 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002192 commonName VAR_002192
VAR_002192 disease phenotype-associated
VAR_002192 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_002196 commonName VAR_002196
VAR_002196 disease not phenotype-associated
VAR_002200 commonName VAR_002200
VAR_002200 disease phenotype-associated
VAR_002200 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_002201 commonName VAR_002201
VAR_002201 disease phenotype-associated
VAR_002201 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_002202 commonName VAR_002202
VAR_002202 disease phenotype-associated
VAR_002202 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_002203 commonName VAR_002203
VAR_002203 disease phenotype-associated
VAR_002203 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_002204 commonName VAR_002204
VAR_002206 commonName VAR_002206
VAR_002206 disease phenotype-associated
VAR_002206 phenoCommon Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]
VAR_002207 commonName VAR_002207
VAR_002207 disease phenotype-associated
VAR_002207 phenoCommon Amyloidosis type 6 (AMYL6) [MIM:105150]
VAR_002208 commonName VAR_002208
VAR_002208 disease not phenotype-associated
VAR_002209 commonName VAR_002209
VAR_002209 disease not phenotype-associated
VAR_002210 commonName VAR_002210
VAR_002210 disease phenotype-associated
VAR_002210 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002211 commonName VAR_002211
VAR_002211 disease phenotype-associated
VAR_002211 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002212 commonName VAR_002212
VAR_002212 disease phenotype-associated
VAR_002212 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002213 commonName VAR_002213
VAR_002213 disease phenotype-associated
VAR_002213 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002214 commonName VAR_002214
VAR_002214 disease not phenotype-associated
VAR_002215 commonName VAR_002215
VAR_002215 disease phenotype-associated
VAR_002215 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002216 commonName VAR_002216
VAR_002216 disease phenotype-associated
VAR_002216 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002217 commonName VAR_002217
VAR_002217 disease phenotype-associated
VAR_002217 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002218 commonName VAR_002218
VAR_002218 disease phenotype-associated
VAR_002218 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002219 commonName VAR_002219
VAR_002219 disease phenotype-associated
VAR_002219 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002220 commonName VAR_002220
VAR_002220 disease phenotype-associated
VAR_002220 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002221 commonName VAR_002221
VAR_002221 disease phenotype-associated
VAR_002221 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002222 comment A pancreatic ductal adenocarcinoma sample
VAR_002222 commonName VAR_002222
VAR_002223 commonName VAR_002223
VAR_002223 disease phenotype-associated
VAR_002223 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002224 commonName VAR_002224
VAR_002224 disease phenotype-associated
VAR_002224 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002225 commonName VAR_002225
VAR_002225 disease not phenotype-associated
VAR_002226 commonName VAR_002226
VAR_002226 disease phenotype-associated
VAR_002226 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002227 commonName VAR_002227
VAR_002227 disease phenotype-associated
VAR_002227 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002228 commonName VAR_002228
VAR_002228 disease phenotype-associated
VAR_002228 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002229 commonName VAR_002229
VAR_002229 disease phenotype-associated
VAR_002229 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002230 commonName VAR_002230
VAR_002230 disease phenotype-associated
VAR_002230 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002231 commonName VAR_002231
VAR_002231 disease phenotype-associated
VAR_002231 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002232 commonName VAR_002232
VAR_002232 disease phenotype-associated
VAR_002232 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002233 commonName VAR_002233
VAR_002233 disease phenotype-associated
VAR_002233 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002234 commonName VAR_002234
VAR_002234 disease phenotype-associated
VAR_002234 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002235 commonName VAR_002235
VAR_002235 disease not phenotype-associated
VAR_002236 commonName VAR_002236
VAR_002236 disease phenotype-associated
VAR_002236 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002237 commonName VAR_002237
VAR_002237 disease phenotype-associated
VAR_002237 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002238 commonName VAR_002238
VAR_002238 disease phenotype-associated
VAR_002238 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002239 commonName VAR_002239
VAR_002239 disease phenotype-associated
VAR_002239 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002240 commonName VAR_002240
VAR_002240 disease phenotype-associated
VAR_002240 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
VAR_002243 commonName VAR_002243
VAR_002243 disease not phenotype-associated
VAR_002244 commonName VAR_002244
VAR_002244 disease phenotype-associated
VAR_002244 phenoCommon Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
VAR_002245 commonName VAR_002245
VAR_002245 disease phenotype-associated
VAR_002245 phenoCommon Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
VAR_002248 commonName VAR_002248
VAR_002248 disease not phenotype-associated
VAR_002249 commonName VAR_002249
VAR_002249 disease phenotype-associated
VAR_002249 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_002250 commonName VAR_002250
VAR_002250 disease phenotype-associated
VAR_002250 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_002251 commonName VAR_002251
VAR_002251 disease phenotype-associated
VAR_002251 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_002252 commonName VAR_002252
VAR_002252 disease phenotype-associated
VAR_002252 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_002257 commonName VAR_002257
VAR_002257 disease not phenotype-associated
VAR_002258 commonName VAR_002258
VAR_002258 disease not phenotype-associated
VAR_002259 commonName VAR_002259
VAR_002259 disease not phenotype-associated
VAR_002260 commonName VAR_002260
VAR_002260 disease phenotype-associated
VAR_002260 phenoCommon Hyperprolinemia type 2 (HP-2) [MIM:239510]
VAR_002262 commonName VAR_002262
VAR_002264 commonName VAR_002264
VAR_002264 disease not phenotype-associated
VAR_002265 commonName VAR_002265
VAR_002265 disease not phenotype-associated
VAR_002266 commonName VAR_002266
VAR_002266 disease not phenotype-associated
VAR_002267 commonName VAR_002267
VAR_002267 disease phenotype-associated
VAR_002267 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
VAR_002268 commonName VAR_002268
VAR_002268 disease phenotype-associated
VAR_002268 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
VAR_002269 commonName VAR_002269
VAR_002269 disease phenotype-associated
VAR_002269 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
VAR_002270 commonName VAR_002270
VAR_002270 disease phenotype-associated
VAR_002270 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
VAR_002271 commonName VAR_002271
VAR_002271 disease phenotype-associated
VAR_002271 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
VAR_002272 commonName VAR_002272
VAR_002272 disease not phenotype-associated
VAR_002273 commonName VAR_002273
VAR_002273 disease phenotype-associated
VAR_002273 phenoCommon Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]
VAR_002273 phenoCommon Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]
VAR_002275 commonName VAR_002275
VAR_002275 disease not phenotype-associated
VAR_002349 commonName VAR_002349
VAR_002349 disease not phenotype-associated
VAR_002350 commonName VAR_002350
VAR_002350 disease phenotype-associated
VAR_002350 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_002351 commonName VAR_002351
VAR_002351 disease phenotype-associated
VAR_002351 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_002352 commonName VAR_002352
VAR_002352 disease not phenotype-associated
VAR_002353 commonName VAR_002353
VAR_002353 disease phenotype-associated
VAR_002353 phenoCommon Waardenburg syndrome type 4 (WS4B) [MIM:613265]
VAR_002354 commonName VAR_002354
VAR_002354 disease not phenotype-associated
VAR_002355 commonName VAR_002355
VAR_002355 disease not phenotype-associated
VAR_002356 commonName VAR_002356
VAR_002356 disease not phenotype-associated
VAR_002359 commonName VAR_002359
VAR_002359 disease not phenotype-associated
VAR_002360 commonName VAR_002360
VAR_002360 disease phenotype-associated
VAR_002360 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_002362 commonName VAR_002362
VAR_002362 disease phenotype-associated
VAR_002362 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_002364 commonName VAR_002364
VAR_002364 disease phenotype-associated
VAR_002364 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_002365 commonName VAR_002365
VAR_002365 disease not phenotype-associated
VAR_002366 commonName VAR_002366
VAR_002366 disease phenotype-associated
VAR_002366 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680]
VAR_002367 commonName VAR_002367
VAR_002367 disease phenotype-associated
VAR_002367 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680]
VAR_002368 commonName VAR_002368
VAR_002368 disease phenotype-associated
VAR_002368 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680]
VAR_002369 commonName VAR_002369
VAR_002369 disease phenotype-associated
VAR_002369 phenoCommon Glutaric aciduria type 2B (GA2B) [MIM:231680]
VAR_002370 commonName VAR_002370
VAR_002370 disease phenotype-associated
VAR_002370 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002371 commonName VAR_002371
VAR_002371 disease phenotype-associated
VAR_002371 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002372 commonName VAR_002372
VAR_002372 disease phenotype-associated
VAR_002372 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002373 commonName VAR_002373
VAR_002373 disease phenotype-associated
VAR_002373 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002374 commonName VAR_002374
VAR_002374 disease phenotype-associated
VAR_002374 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002375 commonName VAR_002375
VAR_002375 disease phenotype-associated
VAR_002375 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002376 commonName VAR_002376
VAR_002376 disease phenotype-associated
VAR_002376 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_002378 commonName VAR_002378
VAR_002378 disease phenotype-associated
VAR_002378 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_002379 commonName VAR_002379
VAR_002379 disease not phenotype-associated
VAR_002380 commonName VAR_002380
VAR_002380 disease phenotype-associated
VAR_002380 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
VAR_002381 commonName VAR_002381
VAR_002381 disease phenotype-associated
VAR_002381 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
VAR_002382 commonName VAR_002382
VAR_002382 disease not phenotype-associated
VAR_002383 commonName VAR_002383
VAR_002383 disease phenotype-associated
VAR_002383 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_002384 commonName VAR_002384
VAR_002384 disease phenotype-associated
VAR_002384 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_002385 commonName VAR_002385
VAR_002385 disease phenotype-associated
VAR_002385 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_002390 commonName VAR_002390
VAR_002391 commonName VAR_002391
VAR_002392 commonName VAR_002392
VAR_002392 disease not phenotype-associated
VAR_002393 commonName VAR_002393
VAR_002393 disease not phenotype-associated
VAR_002394 commonName VAR_002394
VAR_002395 commonName VAR_002395
VAR_002396 commonName VAR_002396
VAR_002397 commonName VAR_002397
VAR_002398 commonName VAR_002398
VAR_002398 disease not phenotype-associated
VAR_002399 commonName VAR_002399
VAR_002400 commonName VAR_002400
VAR_002401 commonName VAR_002401
VAR_002403 commonName VAR_002403
VAR_002404 commonName VAR_002404
VAR_002405 commonName VAR_002405
VAR_002406 commonName VAR_002406
VAR_002407 commonName VAR_002407
VAR_002409 commonName VAR_002409
VAR_002410 commonName VAR_002410
VAR_002411 commonName VAR_002411
VAR_002412 commonName VAR_002412
VAR_002413 commonName VAR_002413
VAR_002414 commonName VAR_002414
VAR_002416 commonName VAR_002416
VAR_002417 commonName VAR_002417
VAR_002418 commonName VAR_002418
VAR_002419 commonName VAR_002419
VAR_002421 commonName VAR_002421
VAR_002422 commonName VAR_002422
VAR_002423 commonName VAR_002423
VAR_002423 disease phenotype-associated
VAR_002423 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_002424 commonName VAR_002424
VAR_002424 disease phenotype-associated
VAR_002424 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_002425 commonName VAR_002425
VAR_002425 disease not phenotype-associated
VAR_002426 commonName VAR_002426
VAR_002426 disease not phenotype-associated
VAR_002427 commonName VAR_002427
VAR_002427 disease not phenotype-associated
VAR_002428 commonName VAR_002428
VAR_002428 disease phenotype-associated
VAR_002428 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_002429 commonName VAR_002429
VAR_002429 disease phenotype-associated
VAR_002429 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_002430 commonName VAR_002430
VAR_002430 disease phenotype-associated
VAR_002430 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_002431 commonName VAR_002431
VAR_002431 disease phenotype-associated
VAR_002431 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_002432 commonName VAR_002432
VAR_002432 disease phenotype-associated
VAR_002432 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002433 commonName VAR_002433
VAR_002433 disease phenotype-associated
VAR_002433 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002434 commonName VAR_002434
VAR_002434 disease phenotype-associated
VAR_002434 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002435 commonName VAR_002435
VAR_002435 disease phenotype-associated
VAR_002435 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002436 commonName VAR_002436
VAR_002436 disease phenotype-associated
VAR_002436 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002437 commonName VAR_002437
VAR_002437 disease phenotype-associated
VAR_002437 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_002442 commonName VAR_002442
VAR_002442 disease phenotype-associated
VAR_002442 phenoCommon Fucosidosis (FUCA1D) [MIM:230000]
VAR_002443 commonName VAR_002443
VAR_002443 disease phenotype-associated
VAR_002443 phenoCommon Fucosidosis (FUCA1D) [MIM:230000]
VAR_002444 commonName VAR_002444
VAR_002444 disease not phenotype-associated
VAR_002445 commonName VAR_002445
VAR_002445 disease phenotype-associated
VAR_002445 phenoCommon Fumarase deficiency (FHD) [MIM:606812]
VAR_002445 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_002446 commonName VAR_002446
VAR_002446 disease phenotype-associated
VAR_002446 phenoCommon Fumarase deficiency (FHD) [MIM:606812]
VAR_002447 commonName VAR_002447
VAR_002447 disease phenotype-associated
VAR_002447 phenoCommon Fumarase deficiency (FHD) [MIM:606812]
VAR_002448 commonName VAR_002448
VAR_002448 disease phenotype-associated
VAR_002448 phenoCommon Fumarase deficiency (FHD) [MIM:606812]
VAR_002450 commonName VAR_002450
VAR_002451 commonName VAR_002451
VAR_002453 commonName VAR_002453
VAR_002454 commonName VAR_002454
VAR_002455 commonName VAR_002455
VAR_002456 commonName VAR_002456
VAR_002456 disease not phenotype-associated
VAR_002457 commonName VAR_002457
VAR_002458 commonName VAR_002458
VAR_002459 commonName VAR_002459
VAR_002460 commonName VAR_002460
VAR_002461 commonName VAR_002461
VAR_002462 commonName VAR_002462
VAR_002462 disease not phenotype-associated
VAR_002463 commonName VAR_002463
VAR_002464 commonName VAR_002464
VAR_002465 commonName VAR_002465
VAR_002466 commonName VAR_002466
VAR_002467 commonName VAR_002467
VAR_002468 commonName VAR_002468
VAR_002469 commonName VAR_002469
VAR_002470 commonName VAR_002470
VAR_002471 commonName VAR_002471
VAR_002471 disease not phenotype-associated
VAR_002472 commonName VAR_002472
VAR_002473 commonName VAR_002473
VAR_002473 disease not phenotype-associated
VAR_002474 commonName VAR_002474
VAR_002475 commonName VAR_002475
VAR_002475 disease phenotype-associated
VAR_002475 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
VAR_002476 commonName VAR_002476
VAR_002477 commonName VAR_002477
VAR_002478 commonName VAR_002478
VAR_002479 commonName VAR_002479
VAR_002480 commonName VAR_002480
VAR_002482 commonName VAR_002482
VAR_002483 commonName VAR_002483
VAR_002484 commonName VAR_002484
VAR_002485 commonName VAR_002485
VAR_002486 commonName VAR_002486
VAR_002487 commonName VAR_002487
VAR_002488 commonName VAR_002488
VAR_002489 commonName VAR_002489
VAR_002490 commonName VAR_002490
VAR_002491 commonName VAR_002491
VAR_002491 disease not phenotype-associated
VAR_002492 commonName VAR_002492
VAR_002493 commonName VAR_002493
VAR_002494 commonName VAR_002494
VAR_002495 commonName VAR_002495
VAR_002496 commonName VAR_002496
VAR_002497 commonName VAR_002497
VAR_002498 commonName VAR_002498
VAR_002498 disease phenotype-associated
VAR_002498 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
VAR_002499 commonName VAR_002499
VAR_002500 commonName VAR_002500
VAR_002500 disease phenotype-associated
VAR_002500 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
VAR_002501 commonName VAR_002501
VAR_002502 commonName VAR_002502
VAR_002503 commonName VAR_002503
VAR_002504 commonName VAR_002504
VAR_002504 disease phenotype-associated
VAR_002504 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
VAR_002505 commonName VAR_002505
VAR_002506 commonName VAR_002506
VAR_002506 disease phenotype-associated
VAR_002506 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
VAR_002507 commonName VAR_002507
VAR_002508 commonName VAR_002508
VAR_002509 commonName VAR_002509
VAR_002510 commonName VAR_002510
VAR_002511 commonName VAR_002511
VAR_002512 commonName VAR_002512
VAR_002513 commonName VAR_002513
VAR_002514 commonName VAR_002514
VAR_002515 commonName VAR_002515
VAR_002516 commonName VAR_002516
VAR_002516 disease phenotype-associated
VAR_002516 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002517 commonName VAR_002517
VAR_002517 disease phenotype-associated
VAR_002517 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002518 commonName VAR_002518
VAR_002518 disease phenotype-associated
VAR_002518 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002519 commonName VAR_002519
VAR_002519 disease phenotype-associated
VAR_002519 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002520 commonName VAR_002520
VAR_002520 disease phenotype-associated
VAR_002520 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002521 commonName VAR_002521
VAR_002521 disease phenotype-associated
VAR_002521 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002522 commonName VAR_002522
VAR_002522 disease phenotype-associated
VAR_002522 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002523 commonName VAR_002523
VAR_002523 disease phenotype-associated
VAR_002523 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002524 commonName VAR_002524
VAR_002524 disease phenotype-associated
VAR_002524 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002525 commonName VAR_002525
VAR_002525 disease phenotype-associated
VAR_002525 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002526 commonName VAR_002526
VAR_002526 disease phenotype-associated
VAR_002526 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002527 commonName VAR_002527
VAR_002527 disease phenotype-associated
VAR_002527 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002528 commonName VAR_002528
VAR_002528 disease phenotype-associated
VAR_002528 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002529 commonName VAR_002529
VAR_002529 disease phenotype-associated
VAR_002529 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002530 commonName VAR_002530
VAR_002530 disease phenotype-associated
VAR_002530 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002531 commonName VAR_002531
VAR_002531 disease phenotype-associated
VAR_002531 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002532 commonName VAR_002532
VAR_002532 disease phenotype-associated
VAR_002532 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002533 commonName VAR_002533
VAR_002533 disease phenotype-associated
VAR_002533 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002534 commonName VAR_002534
VAR_002534 disease phenotype-associated
VAR_002534 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002535 commonName VAR_002535
VAR_002535 disease phenotype-associated
VAR_002535 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002536 commonName VAR_002536
VAR_002536 disease phenotype-associated
VAR_002536 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002537 commonName VAR_002537
VAR_002537 disease phenotype-associated
VAR_002537 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002538 commonName VAR_002538
VAR_002538 disease phenotype-associated
VAR_002538 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
VAR_002539 commonName VAR_002539
VAR_002539 disease phenotype-associated
VAR_002539 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_002540 commonName VAR_002540
VAR_002540 disease phenotype-associated
VAR_002540 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_002541 commonName VAR_002541
VAR_002541 disease phenotype-associated
VAR_002541 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_002542 commonName VAR_002542
VAR_002542 disease not phenotype-associated
VAR_002543 commonName VAR_002543
VAR_002543 disease phenotype-associated
VAR_002543 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_002544 commonName VAR_002544
VAR_002544 disease phenotype-associated
VAR_002544 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_002547 commonName VAR_002547
VAR_002547 disease phenotype-associated
VAR_002547 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_002548 commonName VAR_002548
VAR_002548 disease phenotype-associated
VAR_002548 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002549 commonName VAR_002549
VAR_002549 disease phenotype-associated
VAR_002549 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002550 commonName VAR_002550
VAR_002550 disease phenotype-associated
VAR_002550 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002551 commonName VAR_002551
VAR_002551 disease phenotype-associated
VAR_002551 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002552 commonName VAR_002552
VAR_002552 disease phenotype-associated
VAR_002552 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002553 commonName VAR_002553
VAR_002553 disease phenotype-associated
VAR_002553 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002554 commonName VAR_002554
VAR_002554 disease phenotype-associated
VAR_002554 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002555 commonName VAR_002555
VAR_002555 disease not phenotype-associated
VAR_002556 commonName VAR_002556
VAR_002556 disease phenotype-associated
VAR_002556 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002557 commonName VAR_002557
VAR_002557 disease phenotype-associated
VAR_002557 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002558 commonName VAR_002558
VAR_002558 disease phenotype-associated
VAR_002558 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002559 commonName VAR_002559
VAR_002559 disease phenotype-associated
VAR_002559 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002560 commonName VAR_002560
VAR_002560 disease phenotype-associated
VAR_002560 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002561 commonName VAR_002561
VAR_002561 disease phenotype-associated
VAR_002561 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002562 commonName VAR_002562
VAR_002562 disease phenotype-associated
VAR_002562 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002563 commonName VAR_002563
VAR_002563 disease phenotype-associated
VAR_002563 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002564 commonName VAR_002564
VAR_002564 disease phenotype-associated
VAR_002564 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002565 commonName VAR_002565
VAR_002565 disease phenotype-associated
VAR_002565 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002566 commonName VAR_002566
VAR_002566 disease phenotype-associated
VAR_002566 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002567 commonName VAR_002567
VAR_002567 disease phenotype-associated
VAR_002567 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002568 commonName VAR_002568
VAR_002568 disease phenotype-associated
VAR_002568 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002569 commonName VAR_002569
VAR_002569 disease phenotype-associated
VAR_002569 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002570 commonName VAR_002570
VAR_002570 disease phenotype-associated
VAR_002570 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002571 commonName VAR_002571
VAR_002571 disease phenotype-associated
VAR_002571 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002572 commonName VAR_002572
VAR_002572 disease phenotype-associated
VAR_002572 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002573 commonName VAR_002573
VAR_002573 disease phenotype-associated
VAR_002573 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002574 commonName VAR_002574
VAR_002574 disease phenotype-associated
VAR_002574 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002575 commonName VAR_002575
VAR_002575 disease phenotype-associated
VAR_002575 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002576 commonName VAR_002576
VAR_002576 disease phenotype-associated
VAR_002576 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002577 commonName VAR_002577
VAR_002577 disease phenotype-associated
VAR_002577 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002578 commonName VAR_002578
VAR_002578 disease phenotype-associated
VAR_002578 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002579 commonName VAR_002579
VAR_002579 disease phenotype-associated
VAR_002579 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002580 commonName VAR_002580
VAR_002580 disease phenotype-associated
VAR_002580 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002581 commonName VAR_002581
VAR_002581 disease phenotype-associated
VAR_002581 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002582 commonName VAR_002582
VAR_002582 disease phenotype-associated
VAR_002582 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002583 commonName VAR_002583
VAR_002583 disease phenotype-associated
VAR_002583 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002584 commonName VAR_002584
VAR_002584 disease phenotype-associated
VAR_002584 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002585 commonName VAR_002585
VAR_002585 disease phenotype-associated
VAR_002585 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002586 commonName VAR_002586
VAR_002586 disease phenotype-associated
VAR_002586 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002587 commonName VAR_002587
VAR_002587 disease phenotype-associated
VAR_002587 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002588 commonName VAR_002588
VAR_002588 disease phenotype-associated
VAR_002588 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002589 commonName VAR_002589
VAR_002589 disease phenotype-associated
VAR_002589 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002590 commonName VAR_002590
VAR_002590 disease phenotype-associated
VAR_002590 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002591 commonName VAR_002591
VAR_002591 disease phenotype-associated
VAR_002591 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002592 commonName VAR_002592
VAR_002592 disease phenotype-associated
VAR_002592 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002593 commonName VAR_002593
VAR_002593 disease phenotype-associated
VAR_002593 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002594 commonName VAR_002594
VAR_002594 disease phenotype-associated
VAR_002594 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002595 commonName VAR_002595
VAR_002595 disease phenotype-associated
VAR_002595 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002596 commonName VAR_002596
VAR_002596 disease phenotype-associated
VAR_002596 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002597 commonName VAR_002597
VAR_002597 disease phenotype-associated
VAR_002597 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002598 commonName VAR_002598
VAR_002598 disease phenotype-associated
VAR_002598 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002599 commonName VAR_002599
VAR_002599 disease phenotype-associated
VAR_002599 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002600 commonName VAR_002600
VAR_002600 disease phenotype-associated
VAR_002600 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002601 commonName VAR_002601
VAR_002601 disease phenotype-associated
VAR_002601 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002602 commonName VAR_002602
VAR_002602 disease phenotype-associated
VAR_002602 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002603 commonName VAR_002603
VAR_002603 disease phenotype-associated
VAR_002603 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002604 commonName VAR_002604
VAR_002604 disease phenotype-associated
VAR_002604 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002605 commonName VAR_002605
VAR_002605 disease phenotype-associated
VAR_002605 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002606 commonName VAR_002606
VAR_002606 disease phenotype-associated
VAR_002606 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002607 commonName VAR_002607
VAR_002607 disease phenotype-associated
VAR_002607 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002608 commonName VAR_002608
VAR_002608 disease phenotype-associated
VAR_002608 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002609 commonName VAR_002609
VAR_002609 disease phenotype-associated
VAR_002609 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002610 commonName VAR_002610
VAR_002610 disease phenotype-associated
VAR_002610 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002611 commonName VAR_002611
VAR_002611 disease phenotype-associated
VAR_002611 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002612 commonName VAR_002612
VAR_002612 disease phenotype-associated
VAR_002612 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002613 commonName VAR_002613
VAR_002613 disease not phenotype-associated
VAR_002614 commonName VAR_002614
VAR_002614 disease phenotype-associated
VAR_002614 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002615 commonName VAR_002615
VAR_002615 disease phenotype-associated
VAR_002615 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002616 commonName VAR_002616
VAR_002616 disease phenotype-associated
VAR_002616 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002617 commonName VAR_002617
VAR_002617 disease phenotype-associated
VAR_002617 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002618 commonName VAR_002618
VAR_002618 disease phenotype-associated
VAR_002618 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002619 commonName VAR_002619
VAR_002619 disease phenotype-associated
VAR_002619 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002620 commonName VAR_002620
VAR_002620 disease phenotype-associated
VAR_002620 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002621 commonName VAR_002621
VAR_002621 disease phenotype-associated
VAR_002621 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002622 commonName VAR_002622
VAR_002622 disease phenotype-associated
VAR_002622 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002623 commonName VAR_002623
VAR_002623 disease phenotype-associated
VAR_002623 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002624 commonName VAR_002624
VAR_002624 disease phenotype-associated
VAR_002624 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002625 commonName VAR_002625
VAR_002625 disease phenotype-associated
VAR_002625 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002626 commonName VAR_002626
VAR_002626 disease phenotype-associated
VAR_002626 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002627 commonName VAR_002627
VAR_002627 disease phenotype-associated
VAR_002627 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002628 commonName VAR_002628
VAR_002628 disease phenotype-associated
VAR_002628 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002629 commonName VAR_002629
VAR_002629 disease phenotype-associated
VAR_002629 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002630 commonName VAR_002630
VAR_002630 disease phenotype-associated
VAR_002630 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002631 commonName VAR_002631
VAR_002631 disease phenotype-associated
VAR_002631 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_002632 commonName VAR_002632
VAR_002633 commonName VAR_002633
VAR_002633 disease phenotype-associated
VAR_002633 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002634 commonName VAR_002634
VAR_002634 disease phenotype-associated
VAR_002634 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002635 commonName VAR_002635
VAR_002635 disease phenotype-associated
VAR_002635 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002636 commonName VAR_002636
VAR_002636 disease phenotype-associated
VAR_002636 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002637 commonName VAR_002637
VAR_002637 disease phenotype-associated
VAR_002637 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002638 commonName VAR_002638
VAR_002638 disease phenotype-associated
VAR_002638 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002639 commonName VAR_002639
VAR_002639 disease phenotype-associated
VAR_002639 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002640 commonName VAR_002640
VAR_002640 disease phenotype-associated
VAR_002640 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002641 commonName VAR_002641
VAR_002641 disease phenotype-associated
VAR_002641 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_002650 comment Basal cell carcinomas
VAR_002650 commonName VAR_002650
VAR_002651 comment Basal cell carcinomas
VAR_002651 commonName VAR_002651
VAR_002652 comment Basal cell carcinomas
VAR_002652 commonName VAR_002652
VAR_002653 commonName VAR_002653
VAR_002653 disease phenotype-associated
VAR_002653 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002654 commonName VAR_002654
VAR_002654 disease phenotype-associated
VAR_002654 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002655 commonName VAR_002655
VAR_002655 disease phenotype-associated
VAR_002655 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002657 commonName VAR_002657
VAR_002657 disease phenotype-associated
VAR_002657 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002658 commonName VAR_002658
VAR_002658 disease phenotype-associated
VAR_002658 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002659 commonName VAR_002659
VAR_002659 disease phenotype-associated
VAR_002659 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002659 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
VAR_002660 commonName VAR_002660
VAR_002660 disease phenotype-associated
VAR_002660 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002662 commonName VAR_002662
VAR_002662 disease phenotype-associated
VAR_002662 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002663 commonName VAR_002663
VAR_002663 disease phenotype-associated
VAR_002663 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002664 commonName VAR_002664
VAR_002664 disease phenotype-associated
VAR_002664 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002665 commonName VAR_002665
VAR_002665 disease phenotype-associated
VAR_002665 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002667 commonName VAR_002667
VAR_002667 disease phenotype-associated
VAR_002667 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_002668 commonName VAR_002668
VAR_002668 disease phenotype-associated
VAR_002668 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002669 commonName VAR_002669
VAR_002669 disease phenotype-associated
VAR_002669 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002670 commonName VAR_002670
VAR_002670 disease phenotype-associated
VAR_002670 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002671 commonName VAR_002671
VAR_002671 disease phenotype-associated
VAR_002671 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002672 commonName VAR_002672
VAR_002672 disease phenotype-associated
VAR_002672 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002673 commonName VAR_002673
VAR_002673 disease phenotype-associated
VAR_002673 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002674 commonName VAR_002674
VAR_002674 disease phenotype-associated
VAR_002674 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002675 commonName VAR_002675
VAR_002675 disease phenotype-associated
VAR_002675 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002676 commonName VAR_002676
VAR_002676 disease phenotype-associated
VAR_002676 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002677 commonName VAR_002677
VAR_002677 disease phenotype-associated
VAR_002677 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002678 commonName VAR_002678
VAR_002678 disease phenotype-associated
VAR_002678 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002679 commonName VAR_002679
VAR_002679 disease phenotype-associated
VAR_002679 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002680 commonName VAR_002680
VAR_002680 disease phenotype-associated
VAR_002680 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002681 commonName VAR_002681
VAR_002681 disease phenotype-associated
VAR_002681 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002682 commonName VAR_002682
VAR_002682 disease phenotype-associated
VAR_002682 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002683 commonName VAR_002683
VAR_002683 disease phenotype-associated
VAR_002683 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002684 commonName VAR_002684
VAR_002684 disease phenotype-associated
VAR_002684 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002685 commonName VAR_002685
VAR_002685 disease phenotype-associated
VAR_002685 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002686 commonName VAR_002686
VAR_002686 disease phenotype-associated
VAR_002686 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002687 commonName VAR_002687
VAR_002687 disease phenotype-associated
VAR_002687 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002688 commonName VAR_002688
VAR_002688 disease phenotype-associated
VAR_002688 phenoCommon X-linked combined immunodeficiency (XCID) [MIM:312863]
VAR_002689 commonName VAR_002689
VAR_002689 disease phenotype-associated
VAR_002689 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002690 commonName VAR_002690
VAR_002690 disease phenotype-associated
VAR_002690 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002691 commonName VAR_002691
VAR_002691 disease phenotype-associated
VAR_002691 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002692 commonName VAR_002692
VAR_002692 disease phenotype-associated
VAR_002692 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002693 commonName VAR_002693
VAR_002693 disease phenotype-associated
VAR_002693 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002694 commonName VAR_002694
VAR_002694 disease phenotype-associated
VAR_002694 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002695 commonName VAR_002695
VAR_002695 disease phenotype-associated
VAR_002695 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002697 commonName VAR_002697
VAR_002697 disease phenotype-associated
VAR_002697 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002698 commonName VAR_002698
VAR_002698 disease phenotype-associated
VAR_002698 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002699 commonName VAR_002699
VAR_002699 disease phenotype-associated
VAR_002699 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002701 commonName VAR_002701
VAR_002701 disease phenotype-associated
VAR_002701 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]
VAR_002702 commonName VAR_002702
VAR_002702 disease phenotype-associated
VAR_002702 phenoCommon X-linked combined immunodeficiency (XCID) [MIM:312863]
VAR_002703 commonName VAR_002703
VAR_002703 disease not phenotype-associated
VAR_002704 commonName VAR_002704
VAR_002704 disease not phenotype-associated
VAR_002705 commonName VAR_002705
VAR_002705 disease not phenotype-associated
VAR_002706 commonName VAR_002706
VAR_002706 disease not phenotype-associated
VAR_002707 commonName VAR_002707
VAR_002707 disease not phenotype-associated
VAR_002708 commonName VAR_002708
VAR_002708 disease phenotype-associated
VAR_002708 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271]
VAR_002709 commonName VAR_002709
VAR_002709 disease phenotype-associated
VAR_002709 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002710 commonName VAR_002710
VAR_002710 disease phenotype-associated
VAR_002710 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002711 commonName VAR_002711
VAR_002711 disease phenotype-associated
VAR_002711 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002712 commonName VAR_002712
VAR_002712 disease phenotype-associated
VAR_002712 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002713 commonName VAR_002713
VAR_002713 disease phenotype-associated
VAR_002713 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002714 commonName VAR_002714
VAR_002714 disease phenotype-associated
VAR_002714 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271]
VAR_002714 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002715 commonName VAR_002715
VAR_002715 disease phenotype-associated
VAR_002715 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_002716 commonName VAR_002716
VAR_002717 commonName VAR_002717
VAR_002717 disease not phenotype-associated
VAR_002718 commonName VAR_002718
VAR_002718 disease not phenotype-associated
VAR_002719 commonName VAR_002719
VAR_002720 commonName VAR_002720
VAR_002720 disease not phenotype-associated
VAR_002721 commonName VAR_002721
VAR_002721 disease not phenotype-associated
VAR_002722 commonName VAR_002722
VAR_002722 disease not phenotype-associated
VAR_002723 commonName VAR_002723
VAR_002723 disease not phenotype-associated
VAR_002724 commonName VAR_002724
VAR_002725 commonName VAR_002725
VAR_002725 disease not phenotype-associated
VAR_002726 commonName VAR_002726
VAR_002727 commonName VAR_002727
VAR_002728 commonName VAR_002728
VAR_002728 disease not phenotype-associated
VAR_002729 commonName VAR_002729
VAR_002730 commonName VAR_002730
VAR_002730 disease not phenotype-associated
VAR_002731 commonName VAR_002731
VAR_002731 disease not phenotype-associated
VAR_002732 commonName VAR_002732
VAR_002732 disease not phenotype-associated
VAR_002733 commonName VAR_002733
HbVar.674 commonName Hb A2-Coburg
VAR_002733 disease not phenotype-associated
VAR_002734 commonName VAR_002734
VAR_002734 disease not phenotype-associated
VAR_002735 commonName VAR_002735
VAR_002735 disease not phenotype-associated
VAR_002736 commonName VAR_002736
VAR_002736 disease not phenotype-associated
VAR_002737 commonName VAR_002737
VAR_002738 commonName VAR_002738
VAR_002738 disease not phenotype-associated
VAR_002739 commonName VAR_002739
VAR_002739 disease not phenotype-associated
VAR_002740 commonName VAR_002740
VAR_002740 disease not phenotype-associated
VAR_002741 commonName VAR_002741
VAR_002741 disease not phenotype-associated
VAR_002742 commonName VAR_002742
VAR_002742 disease not phenotype-associated
VAR_002743 commonName VAR_002743
VAR_002743 disease not phenotype-associated
VAR_002744 commonName VAR_002744
VAR_002744 disease not phenotype-associated
VAR_002745 commonName VAR_002745
VAR_002746 commonName VAR_002746
VAR_002747 commonName VAR_002747
VAR_002748 commonName VAR_002748
VAR_002749 commonName VAR_002749
VAR_002750 commonName VAR_002750
VAR_002751 commonName VAR_002751
VAR_002752 commonName VAR_002752
VAR_002753 commonName VAR_002753
VAR_002754 commonName VAR_002754
VAR_002756 commonName VAR_002756
VAR_002757 commonName VAR_002757
VAR_002758 commonName VAR_002758
VAR_002759 commonName VAR_002759
VAR_002759 disease not phenotype-associated
VAR_002760 commonName VAR_002760
VAR_002761 commonName VAR_002761
VAR_002762 commonName VAR_002762
VAR_002763 commonName VAR_002763
VAR_002764 commonName VAR_002764
VAR_002765 commonName VAR_002765
VAR_002766 commonName VAR_002766
VAR_002767 commonName VAR_002767
VAR_002768 commonName VAR_002768
VAR_002769 commonName VAR_002769
VAR_002770 commonName VAR_002770
VAR_002771 commonName VAR_002771
VAR_002772 commonName VAR_002772
VAR_002773 commonName VAR_002773
VAR_002774 commonName VAR_002774
VAR_002775 commonName VAR_002775
VAR_002776 commonName VAR_002776
VAR_002777 commonName VAR_002777
VAR_002778 commonName VAR_002778
VAR_002778 disease not phenotype-associated
VAR_002779 commonName VAR_002779
VAR_002780 commonName VAR_002780
VAR_002780 disease not phenotype-associated
VAR_002782 commonName VAR_002782
VAR_002783 commonName VAR_002783
VAR_002784 commonName VAR_002784
VAR_002785 commonName VAR_002785
VAR_002786 commonName VAR_002786
VAR_002787 commonName VAR_002787
VAR_002787 disease not phenotype-associated
VAR_002788 commonName VAR_002788
VAR_002789 commonName VAR_002789
VAR_002790 commonName VAR_002790
VAR_002791 commonName VAR_002791
VAR_002792 commonName VAR_002792
VAR_002793 commonName VAR_002793
VAR_002794 commonName VAR_002794
VAR_002795 commonName VAR_002795
VAR_002796 commonName VAR_002796
VAR_002797 commonName VAR_002797
VAR_002798 commonName VAR_002798
VAR_002799 commonName VAR_002799
VAR_002800 commonName VAR_002800
VAR_002801 commonName VAR_002801
VAR_002802 commonName VAR_002802
VAR_002803 commonName VAR_002803
VAR_002804 commonName VAR_002804
VAR_002805 commonName VAR_002805
VAR_002806 commonName VAR_002806
VAR_002807 commonName VAR_002807
VAR_002808 commonName VAR_002808
VAR_002809 commonName VAR_002809
VAR_002810 commonName VAR_002810
VAR_002811 commonName VAR_002811
VAR_002812 commonName VAR_002812
VAR_002812 disease not phenotype-associated
VAR_002813 commonName VAR_002813
VAR_002814 commonName VAR_002814
VAR_002815 commonName VAR_002815
VAR_002816 commonName VAR_002816
VAR_002817 commonName VAR_002817
VAR_002818 commonName VAR_002818
VAR_002819 commonName VAR_002819
VAR_002819 disease not phenotype-associated
VAR_002820 commonName VAR_002820
VAR_002821 commonName VAR_002821
VAR_002822 commonName VAR_002822
VAR_002823 commonName VAR_002823
VAR_002824 commonName VAR_002824
VAR_002825 commonName VAR_002825
VAR_002826 commonName VAR_002826
VAR_002827 commonName VAR_002827
VAR_002828 commonName VAR_002828
VAR_002829 commonName VAR_002829
VAR_002833 commonName VAR_002833
VAR_002834 commonName VAR_002834
VAR_002835 commonName VAR_002835
VAR_002836 commonName VAR_002836
VAR_002837 commonName VAR_002837
VAR_002838 commonName VAR_002838
VAR_002839 commonName VAR_002839
VAR_002840 commonName VAR_002840
VAR_002841 commonName VAR_002841
VAR_002842 commonName VAR_002842
VAR_002843 commonName VAR_002843
VAR_002844 commonName VAR_002844
VAR_002845 commonName VAR_002845
VAR_002846 commonName VAR_002846
VAR_002847 commonName VAR_002847
VAR_002848 commonName VAR_002848
VAR_002849 commonName VAR_002849
VAR_002850 commonName VAR_002850
VAR_002851 commonName VAR_002851
VAR_002852 commonName VAR_002852
VAR_002853 commonName VAR_002853
VAR_002854 commonName VAR_002854
VAR_002855 commonName VAR_002855
VAR_002856 commonName VAR_002856
VAR_002856 disease not phenotype-associated
VAR_002857 commonName VAR_002857
VAR_002857 disease not phenotype-associated
VAR_002858 commonName VAR_002858
VAR_002858 disease not phenotype-associated
VAR_002859 commonName VAR_002859
VAR_002859 disease not phenotype-associated
VAR_002860 commonName VAR_002860
VAR_002860 disease not phenotype-associated
VAR_002861 commonName VAR_002861
VAR_002861 disease not phenotype-associated
VAR_002862 commonName VAR_002862
VAR_002863 commonName VAR_002863
VAR_002863 disease not phenotype-associated
VAR_002864 commonName VAR_002864
VAR_002865 commonName VAR_002865
VAR_002865 disease not phenotype-associated
VAR_002866 commonName VAR_002866
VAR_002866 disease not phenotype-associated
VAR_002867 commonName VAR_002867
VAR_002867 disease not phenotype-associated
VAR_002868 commonName VAR_002868
VAR_002868 disease not phenotype-associated
VAR_002869 commonName VAR_002869
VAR_002869 disease not phenotype-associated
VAR_002870 commonName VAR_002870
VAR_002871 commonName VAR_002871
VAR_002871 disease not phenotype-associated
VAR_002872 commonName VAR_002872
VAR_002872 disease not phenotype-associated
VAR_002873 commonName VAR_002873
VAR_002873 disease not phenotype-associated
VAR_002874 commonName VAR_002874
VAR_002875 commonName VAR_002875
VAR_002875 disease not phenotype-associated
VAR_002876 commonName VAR_002876
VAR_002877 commonName VAR_002877
VAR_002877 disease not phenotype-associated
VAR_002878 commonName VAR_002878
VAR_002878 disease not phenotype-associated
VAR_002879 commonName VAR_002879
VAR_002879 disease not phenotype-associated
VAR_002880 commonName VAR_002880
VAR_002881 commonName VAR_002881
VAR_002882 commonName VAR_002882
VAR_002882 disease not phenotype-associated
VAR_002883 commonName VAR_002883
VAR_002883 disease not phenotype-associated
VAR_002884 commonName VAR_002884
VAR_002884 disease not phenotype-associated
VAR_002885 commonName VAR_002885
VAR_002885 disease not phenotype-associated
VAR_002886 commonName VAR_002886
VAR_002886 disease not phenotype-associated
VAR_002887 commonName VAR_002887
VAR_002888 commonName VAR_002888
VAR_002888 disease not phenotype-associated
VAR_002889 commonName VAR_002889
VAR_002889 disease not phenotype-associated
VAR_002890 commonName VAR_002890
VAR_002890 disease not phenotype-associated
VAR_002891 commonName VAR_002891
VAR_002892 commonName VAR_002892
VAR_002892 disease not phenotype-associated
VAR_002893 commonName VAR_002893
VAR_002894 commonName VAR_002894
VAR_002894 disease not phenotype-associated
VAR_002895 commonName VAR_002895
VAR_002896 commonName VAR_002896
VAR_002897 commonName VAR_002897
VAR_002898 commonName VAR_002898
VAR_002899 commonName VAR_002899
VAR_002900 commonName VAR_002900
VAR_002901 commonName VAR_002901
VAR_002902 commonName VAR_002902
VAR_002903 commonName VAR_002903
VAR_002904 commonName VAR_002904
VAR_002905 commonName VAR_002905
VAR_002906 commonName VAR_002906
VAR_002907 commonName VAR_002907
VAR_002908 commonName VAR_002908
VAR_002909 commonName VAR_002909
VAR_002910 commonName VAR_002910
VAR_002911 commonName VAR_002911
VAR_002912 commonName VAR_002912
VAR_002913 commonName VAR_002913
VAR_002914 commonName VAR_002914
VAR_002915 commonName VAR_002915
VAR_002916 commonName VAR_002916
VAR_002917 commonName VAR_002917
VAR_002918 commonName VAR_002918
VAR_002919 commonName VAR_002919
VAR_002920 commonName VAR_002920
VAR_002921 commonName VAR_002921
VAR_002922 commonName VAR_002922
VAR_002923 commonName VAR_002923
VAR_002924 commonName VAR_002924
VAR_002925 commonName VAR_002925
VAR_002926 commonName VAR_002926
VAR_002927 commonName VAR_002927
VAR_002928 commonName VAR_002928
VAR_002929 commonName VAR_002929
VAR_002930 commonName VAR_002930
VAR_002931 commonName VAR_002931
VAR_002932 commonName VAR_002932
VAR_002933 commonName VAR_002933
VAR_002934 commonName VAR_002934
VAR_002935 commonName VAR_002935
VAR_002936 commonName VAR_002936
VAR_002937 commonName VAR_002937
VAR_002938 commonName VAR_002938
VAR_002939 commonName VAR_002939
VAR_002940 commonName VAR_002940
VAR_002941 commonName VAR_002941
VAR_002942 commonName VAR_002942
VAR_002943 commonName VAR_002943
VAR_002944 commonName VAR_002944
VAR_002945 commonName VAR_002945
VAR_002946 commonName VAR_002946
VAR_002947 commonName VAR_002947
VAR_002948 commonName VAR_002948
VAR_002949 commonName VAR_002949
VAR_002950 commonName VAR_002950
VAR_002951 commonName VAR_002951
VAR_002952 commonName VAR_002952
VAR_002953 commonName VAR_002953
VAR_002954 commonName VAR_002954
VAR_002955 commonName VAR_002955
VAR_002956 commonName VAR_002956
VAR_002957 commonName VAR_002957
VAR_002958 commonName VAR_002958
VAR_002959 commonName VAR_002959
VAR_002960 commonName VAR_002960
VAR_002961 commonName VAR_002961
VAR_002962 commonName VAR_002962
VAR_002963 commonName VAR_002963
VAR_002964 commonName VAR_002964
VAR_002965 commonName VAR_002965
VAR_002966 commonName VAR_002966
VAR_002967 commonName VAR_002967
VAR_002968 commonName VAR_002968
VAR_002969 commonName VAR_002969
VAR_002970 commonName VAR_002970
VAR_002971 commonName VAR_002971
VAR_002972 commonName VAR_002972
VAR_002973 commonName VAR_002973
VAR_002974 commonName VAR_002974
VAR_002975 commonName VAR_002975
VAR_002976 commonName VAR_002976
VAR_002977 commonName VAR_002977
VAR_002978 commonName VAR_002978
VAR_002979 commonName VAR_002979
VAR_002980 commonName VAR_002980
VAR_002981 commonName VAR_002981
VAR_002982 commonName VAR_002982
VAR_002983 commonName VAR_002983
VAR_002984 commonName VAR_002984
VAR_002985 commonName VAR_002985
VAR_002986 commonName VAR_002986
VAR_002987 commonName VAR_002987
VAR_002988 commonName VAR_002988
VAR_002989 commonName VAR_002989
VAR_002990 commonName VAR_002990
VAR_002991 commonName VAR_002991
VAR_002992 commonName VAR_002992
VAR_002993 commonName VAR_002993
VAR_002994 commonName VAR_002994
VAR_002995 commonName VAR_002995
VAR_002996 commonName VAR_002996
VAR_002997 commonName VAR_002997
VAR_002998 commonName VAR_002998
VAR_002999 commonName VAR_002999
VAR_003000 commonName VAR_003000
VAR_003001 commonName VAR_003001
VAR_003002 commonName VAR_003002
VAR_003003 commonName VAR_003003
VAR_003004 commonName VAR_003004
VAR_003005 commonName VAR_003005
VAR_003006 commonName VAR_003006
VAR_003007 commonName VAR_003007
VAR_003008 commonName VAR_003008
VAR_003009 commonName VAR_003009
VAR_003010 commonName VAR_003010
VAR_003011 commonName VAR_003011
VAR_003012 commonName VAR_003012
VAR_003013 commonName VAR_003013
VAR_003014 commonName VAR_003014
VAR_003015 commonName VAR_003015
VAR_003016 commonName VAR_003016
VAR_003017 commonName VAR_003017
VAR_003018 commonName VAR_003018
VAR_003019 commonName VAR_003019
VAR_003020 commonName VAR_003020
VAR_003021 commonName VAR_003021
VAR_003022 commonName VAR_003022
VAR_003023 commonName VAR_003023
VAR_003024 commonName VAR_003024
VAR_003025 commonName VAR_003025
VAR_003026 commonName VAR_003026
VAR_003027 commonName VAR_003027
VAR_003028 commonName VAR_003028
VAR_003029 commonName VAR_003029
VAR_003030 commonName VAR_003030
VAR_003031 commonName VAR_003031
VAR_003032 commonName VAR_003032
VAR_003033 commonName VAR_003033
VAR_003034 commonName VAR_003034
VAR_003035 commonName VAR_003035
VAR_003036 commonName VAR_003036
VAR_003037 commonName VAR_003037
VAR_003038 commonName VAR_003038
VAR_003039 commonName VAR_003039
VAR_003040 commonName VAR_003040
VAR_003041 commonName VAR_003041
VAR_003042 commonName VAR_003042
VAR_003043 commonName VAR_003043
VAR_003044 commonName VAR_003044
VAR_003045 commonName VAR_003045
VAR_003046 commonName VAR_003046
VAR_003047 commonName VAR_003047
VAR_003048 commonName VAR_003048
VAR_003049 commonName VAR_003049
VAR_003050 commonName VAR_003050
VAR_003051 commonName VAR_003051
VAR_003052 commonName VAR_003052
VAR_003053 commonName VAR_003053
VAR_003054 commonName VAR_003054
VAR_003055 commonName VAR_003055
VAR_003056 commonName VAR_003056
VAR_003057 commonName VAR_003057
VAR_003058 commonName VAR_003058
VAR_003059 commonName VAR_003059
VAR_003060 commonName VAR_003060
VAR_003061 commonName VAR_003061
VAR_003062 commonName VAR_003062
VAR_003063 commonName VAR_003063
VAR_003064 commonName VAR_003064
VAR_003065 commonName VAR_003065
VAR_003066 commonName VAR_003066
VAR_003067 commonName VAR_003067
VAR_003068 commonName VAR_003068
VAR_003069 commonName VAR_003069
VAR_003070 commonName VAR_003070
VAR_003071 commonName VAR_003071
VAR_003072 commonName VAR_003072
VAR_003073 commonName VAR_003073
VAR_003074 commonName VAR_003074
VAR_003075 commonName VAR_003075
VAR_003076 commonName VAR_003076
VAR_003077 commonName VAR_003077
VAR_003078 commonName VAR_003078
VAR_003079 commonName VAR_003079
VAR_003080 commonName VAR_003080
VAR_003081 commonName VAR_003081
VAR_003082 commonName VAR_003082
VAR_003083 commonName VAR_003083
VAR_003084 commonName VAR_003084
VAR_003085 commonName VAR_003085
VAR_003086 commonName VAR_003086
VAR_003087 commonName VAR_003087
VAR_003088 commonName VAR_003088
VAR_003089 commonName VAR_003089
VAR_003090 commonName VAR_003090
VAR_003091 commonName VAR_003091
VAR_003092 commonName VAR_003092
VAR_003093 commonName VAR_003093
VAR_003094 commonName VAR_003094
VAR_003095 commonName VAR_003095
VAR_003096 commonName VAR_003096
VAR_003096 disease not phenotype-associated
VAR_003097 commonName VAR_003097
VAR_003097 disease not phenotype-associated
VAR_003098 commonName VAR_003098
VAR_003098 disease not phenotype-associated
VAR_003099 commonName VAR_003099
VAR_003099 disease not phenotype-associated
VAR_003100 commonName VAR_003100
VAR_003100 disease not phenotype-associated
VAR_003101 commonName VAR_003101
VAR_003101 disease not phenotype-associated
VAR_003102 commonName VAR_003102
VAR_003102 disease not phenotype-associated
VAR_003103 commonName VAR_003103
VAR_003103 disease not phenotype-associated
VAR_003104 commonName VAR_003104
VAR_003104 disease not phenotype-associated
VAR_003105 commonName VAR_003105
VAR_003105 disease not phenotype-associated
VAR_003106 commonName VAR_003106
VAR_003106 disease not phenotype-associated
VAR_003107 commonName VAR_003107
VAR_003107 disease not phenotype-associated
VAR_003108 commonName VAR_003108
VAR_003108 disease not phenotype-associated
VAR_003109 commonName VAR_003109
VAR_003109 disease not phenotype-associated
VAR_003110 commonName VAR_003110
VAR_003110 disease not phenotype-associated
VAR_003111 commonName VAR_003111
VAR_003111 disease not phenotype-associated
VAR_003112 commonName VAR_003112
VAR_003112 disease not phenotype-associated
VAR_003113 commonName VAR_003113
VAR_003113 disease not phenotype-associated
VAR_003114 commonName VAR_003114
VAR_003114 disease not phenotype-associated
VAR_003115 commonName VAR_003115
VAR_003115 disease not phenotype-associated
VAR_003116 commonName VAR_003116
VAR_003116 disease not phenotype-associated
VAR_003117 commonName VAR_003117
VAR_003117 disease not phenotype-associated
VAR_003118 commonName VAR_003118
VAR_003118 disease not phenotype-associated
VAR_003119 commonName VAR_003119
VAR_003119 disease not phenotype-associated
VAR_003120 commonName VAR_003120
VAR_003121 commonName VAR_003121
VAR_003122 commonName VAR_003122
VAR_003123 commonName VAR_003123
VAR_003124 commonName VAR_003124
VAR_003124 disease not phenotype-associated
VAR_003125 commonName VAR_003125
VAR_003125 disease not phenotype-associated
VAR_003126 commonName VAR_003126
VAR_003127 commonName VAR_003127
VAR_003127 disease not phenotype-associated
VAR_003128 commonName VAR_003128
VAR_003128 disease not phenotype-associated
VAR_003129 commonName VAR_003129
VAR_003130 commonName VAR_003130
VAR_003130 disease not phenotype-associated
VAR_003131 commonName VAR_003131
VAR_003132 commonName VAR_003132
VAR_003133 commonName VAR_003133
VAR_003134 commonName VAR_003134
VAR_003135 commonName VAR_003135
VAR_003135 disease not phenotype-associated
VAR_003136 commonName VAR_003136
VAR_003137 commonName VAR_003137
VAR_003138 commonName VAR_003138
VAR_003138 disease not phenotype-associated
VAR_003139 commonName VAR_003139
VAR_003140 commonName VAR_003140
VAR_003141 commonName VAR_003141
VAR_003141 disease not phenotype-associated
VAR_003142 commonName VAR_003142
VAR_003142 disease not phenotype-associated
VAR_003143 commonName VAR_003143
VAR_003143 disease not phenotype-associated
VAR_003144 commonName VAR_003144
VAR_003145 commonName VAR_003145
VAR_003145 disease not phenotype-associated
VAR_003146 commonName VAR_003146
VAR_003146 disease phenotype-associated
VAR_003146 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977]
VAR_003147 commonName VAR_003147
VAR_003147 disease not phenotype-associated
VAR_003148 commonName VAR_003148
VAR_003149 commonName VAR_003149
VAR_003149 disease not phenotype-associated
VAR_003150 commonName VAR_003150
VAR_003151 commonName VAR_003151
VAR_003152 commonName VAR_003152
VAR_003153 commonName VAR_003153
VAR_003153 disease not phenotype-associated
VAR_003154 commonName VAR_003154
VAR_003154 disease phenotype-associated
VAR_003154 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977]
VAR_003155 commonName VAR_003155
VAR_003156 commonName VAR_003156
VAR_003157 commonName VAR_003157
VAR_003158 commonName VAR_003158
VAR_003159 commonName VAR_003159
VAR_003160 commonName VAR_003160
VAR_003161 commonName VAR_003161
VAR_003161 disease not phenotype-associated
VAR_003162 commonName VAR_003162
VAR_003163 commonName VAR_003163
VAR_003164 commonName VAR_003164
VAR_003165 commonName VAR_003165
VAR_003166 commonName VAR_003166
VAR_003166 disease phenotype-associated
VAR_003166 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977]
VAR_003167 commonName VAR_003167
VAR_003168 commonName VAR_003168
VAR_003169 commonName VAR_003169
VAR_003170 commonName VAR_003170
VAR_003171 commonName VAR_003171
VAR_003172 commonName VAR_003172
VAR_003172 disease not phenotype-associated
VAR_003173 commonName VAR_003173
VAR_003174 commonName VAR_003174
VAR_003175 commonName VAR_003175
VAR_003176 commonName VAR_003176
VAR_003177 commonName VAR_003177
VAR_003179 commonName VAR_003179
VAR_003179 disease not phenotype-associated
VAR_003180 commonName VAR_003180
VAR_003180 disease not phenotype-associated
VAR_003181 commonName VAR_003181
VAR_003181 disease not phenotype-associated
VAR_003182 commonName VAR_003182
VAR_003182 disease not phenotype-associated
VAR_003183 commonName VAR_003183
VAR_003183 disease not phenotype-associated
VAR_003184 commonName VAR_003184
VAR_003184 disease phenotype-associated
VAR_003184 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_003185 commonName VAR_003185
VAR_003185 disease phenotype-associated
VAR_003185 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_003188 commonName VAR_003188
VAR_003188 disease not phenotype-associated
VAR_003189 commonName VAR_003189
VAR_003189 disease phenotype-associated
VAR_003189 phenoCommon Hypogonadism LHB-related (HGON-LHB) [MIM:152780]
VAR_003192 commonName VAR_003192
VAR_003192 disease not phenotype-associated
VAR_003193 commonName VAR_003193
VAR_003194 commonName VAR_003194
VAR_003195 commonName VAR_003195
VAR_003196 commonName VAR_003196
VAR_003196 disease phenotype-associated
VAR_003196 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003197 commonName VAR_003197
VAR_003197 disease phenotype-associated
VAR_003197 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003198 commonName VAR_003198
VAR_003198 disease phenotype-associated
VAR_003198 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003199 commonName VAR_003199
VAR_003199 disease phenotype-associated
VAR_003199 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003200 commonName VAR_003200
VAR_003200 disease phenotype-associated
VAR_003200 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003201 commonName VAR_003201
VAR_003201 disease phenotype-associated
VAR_003201 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_003202 commonName VAR_003202
VAR_003202 disease phenotype-associated
VAR_003202 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003203 commonName VAR_003203
VAR_003203 disease phenotype-associated
VAR_003203 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003204 commonName VAR_003204
VAR_003204 disease phenotype-associated
VAR_003204 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003205 commonName VAR_003205
VAR_003205 disease phenotype-associated
VAR_003205 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003206 commonName VAR_003206
VAR_003206 disease phenotype-associated
VAR_003206 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003207 commonName VAR_003207
VAR_003207 disease phenotype-associated
VAR_003207 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003208 commonName VAR_003208
VAR_003208 disease phenotype-associated
VAR_003208 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003209 commonName VAR_003209
VAR_003209 disease phenotype-associated
VAR_003209 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003210 commonName VAR_003210
VAR_003210 disease phenotype-associated
VAR_003210 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003211 commonName VAR_003211
VAR_003211 disease phenotype-associated
VAR_003211 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003212 commonName VAR_003212
VAR_003212 disease phenotype-associated
VAR_003212 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003213 commonName VAR_003213
VAR_003213 disease phenotype-associated
VAR_003213 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003214 commonName VAR_003214
VAR_003214 disease phenotype-associated
VAR_003214 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003215 commonName VAR_003215
VAR_003215 disease phenotype-associated
VAR_003215 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003216 commonName VAR_003216
VAR_003216 disease phenotype-associated
VAR_003216 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003217 commonName VAR_003217
VAR_003217 disease phenotype-associated
VAR_003217 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003218 commonName VAR_003218
VAR_003218 disease phenotype-associated
VAR_003218 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003219 commonName VAR_003219
VAR_003220 commonName VAR_003220
VAR_003221 commonName VAR_003221
VAR_003221 disease phenotype-associated
VAR_003221 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003222 commonName VAR_003222
VAR_003222 disease phenotype-associated
VAR_003222 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003223 commonName VAR_003223
VAR_003223 disease phenotype-associated
VAR_003223 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003224 commonName VAR_003224
VAR_003224 disease phenotype-associated
VAR_003224 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003225 commonName VAR_003225
VAR_003225 disease phenotype-associated
VAR_003225 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003226 commonName VAR_003226
VAR_003226 disease phenotype-associated
VAR_003226 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003227 commonName VAR_003227
VAR_003227 disease phenotype-associated
VAR_003227 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003230 commonName VAR_003230
VAR_003230 disease phenotype-associated
VAR_003230 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_003247 commonName VAR_003247
VAR_003247 disease phenotype-associated
VAR_003247 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]
VAR_003248 commonName VAR_003248
VAR_003248 disease not phenotype-associated
VAR_003249 commonName VAR_003249
VAR_003249 disease not phenotype-associated
VAR_003250 commonName VAR_003250
VAR_003250 disease phenotype-associated
VAR_003250 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]
VAR_003255 commonName VAR_003255
VAR_003255 disease phenotype-associated
VAR_003255 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003256 commonName VAR_003256
VAR_003256 disease phenotype-associated
VAR_003256 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003257 commonName VAR_003257
VAR_003257 disease phenotype-associated
VAR_003257 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003258 commonName VAR_003258
VAR_003258 disease phenotype-associated
VAR_003258 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003259 commonName VAR_003259
VAR_003259 disease phenotype-associated
VAR_003259 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003260 commonName VAR_003260
VAR_003260 disease phenotype-associated
VAR_003260 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003261 commonName VAR_003261
VAR_003261 disease phenotype-associated
VAR_003261 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003262 commonName VAR_003262
VAR_003262 disease phenotype-associated
VAR_003262 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003263 commonName VAR_003263
VAR_003263 disease phenotype-associated
VAR_003263 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003264 commonName VAR_003264
VAR_003264 disease phenotype-associated
VAR_003264 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003265 commonName VAR_003265
VAR_003265 disease phenotype-associated
VAR_003265 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003266 commonName VAR_003266
VAR_003266 disease phenotype-associated
VAR_003266 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003267 commonName VAR_003267
VAR_003267 disease phenotype-associated
VAR_003267 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003268 commonName VAR_003268
VAR_003268 disease phenotype-associated
VAR_003268 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003269 commonName VAR_003269
VAR_003269 disease phenotype-associated
VAR_003269 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003270 commonName VAR_003270
VAR_003270 disease phenotype-associated
VAR_003270 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003271 commonName VAR_003271
VAR_003271 disease phenotype-associated
VAR_003271 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003272 commonName VAR_003272
VAR_003272 disease phenotype-associated
VAR_003272 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003273 commonName VAR_003273
VAR_003273 disease phenotype-associated
VAR_003273 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003274 commonName VAR_003274
VAR_003274 disease phenotype-associated
VAR_003274 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003275 commonName VAR_003275
VAR_003275 disease phenotype-associated
VAR_003275 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003276 commonName VAR_003276
VAR_003276 disease phenotype-associated
VAR_003276 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_003277 commonName VAR_003277
VAR_003277 disease phenotype-associated
VAR_003277 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003278 commonName VAR_003278
VAR_003278 disease phenotype-associated
VAR_003278 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003279 commonName VAR_003279
VAR_003279 disease phenotype-associated
VAR_003279 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003280 commonName VAR_003280
VAR_003280 disease phenotype-associated
VAR_003280 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003281 commonName VAR_003281
VAR_003281 disease phenotype-associated
VAR_003281 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003282 commonName VAR_003282
VAR_003282 disease phenotype-associated
VAR_003282 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003283 commonName VAR_003283
VAR_003283 disease phenotype-associated
VAR_003283 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003284 commonName VAR_003284
VAR_003284 disease phenotype-associated
VAR_003284 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003285 commonName VAR_003285
VAR_003285 disease phenotype-associated
VAR_003285 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003286 commonName VAR_003286
VAR_003286 disease phenotype-associated
VAR_003286 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003287 commonName VAR_003287
VAR_003287 disease phenotype-associated
VAR_003287 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003288 commonName VAR_003288
VAR_003288 disease phenotype-associated
VAR_003288 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003289 commonName VAR_003289
VAR_003289 disease phenotype-associated
VAR_003289 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003290 commonName VAR_003290
VAR_003290 disease phenotype-associated
VAR_003290 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003291 commonName VAR_003291
VAR_003291 disease phenotype-associated
VAR_003291 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003292 commonName VAR_003292
VAR_003292 disease phenotype-associated
VAR_003292 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003293 commonName VAR_003293
VAR_003293 disease phenotype-associated
VAR_003293 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003294 commonName VAR_003294
VAR_003294 disease phenotype-associated
VAR_003294 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003295 commonName VAR_003295
VAR_003295 disease phenotype-associated
VAR_003295 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003296 commonName VAR_003296
VAR_003296 disease phenotype-associated
VAR_003296 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003297 commonName VAR_003297
VAR_003297 disease phenotype-associated
VAR_003297 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003298 commonName VAR_003298
VAR_003298 disease phenotype-associated
VAR_003298 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003299 commonName VAR_003299
VAR_003299 disease phenotype-associated
VAR_003299 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003300 commonName VAR_003300
VAR_003300 disease phenotype-associated
VAR_003300 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003301 commonName VAR_003301
VAR_003301 disease phenotype-associated
VAR_003301 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003302 commonName VAR_003302
VAR_003302 disease phenotype-associated
VAR_003302 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_003303 commonName VAR_003303
VAR_003303 disease phenotype-associated
VAR_003303 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003304 commonName VAR_003304
VAR_003304 disease phenotype-associated
VAR_003304 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003305 commonName VAR_003305
VAR_003305 disease phenotype-associated
VAR_003305 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003306 commonName VAR_003306
VAR_003306 disease phenotype-associated
VAR_003306 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003307 commonName VAR_003307
VAR_003307 disease phenotype-associated
VAR_003307 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003308 commonName VAR_003308
VAR_003308 disease phenotype-associated
VAR_003308 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003309 commonName VAR_003309
VAR_003309 disease phenotype-associated
VAR_003309 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003310 commonName VAR_003310
VAR_003310 disease phenotype-associated
VAR_003310 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003311 commonName VAR_003311
VAR_003311 disease phenotype-associated
VAR_003311 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_003312 commonName VAR_003312
VAR_003312 disease phenotype-associated
VAR_003312 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003313 commonName VAR_003313
VAR_003313 disease phenotype-associated
VAR_003313 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003314 commonName VAR_003314
VAR_003314 disease phenotype-associated
VAR_003314 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_003329 commonName VAR_003329
VAR_003329 disease phenotype-associated
VAR_003329 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_003330 commonName VAR_003330
VAR_003330 disease phenotype-associated
VAR_003330 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_003331 commonName VAR_003331
VAR_003331 disease phenotype-associated
VAR_003331 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_003332 commonName VAR_003332
VAR_003332 disease phenotype-associated
VAR_003332 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_003332 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_003333 commonName VAR_003333
VAR_003333 disease phenotype-associated
VAR_003333 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_003334 commonName VAR_003334
VAR_003334 disease phenotype-associated
VAR_003334 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_003335 commonName VAR_003335
VAR_003335 disease phenotype-associated
VAR_003335 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_003336 commonName VAR_003336
VAR_003336 disease phenotype-associated
VAR_003336 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_003336 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_003337 commonName VAR_003337
VAR_003337 disease phenotype-associated
VAR_003337 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_003338 commonName VAR_003338
VAR_003338 disease phenotype-associated
VAR_003338 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003339 commonName VAR_003339
VAR_003339 disease not phenotype-associated
VAR_003340 commonName VAR_003340
VAR_003340 disease not phenotype-associated
VAR_003341 commonName VAR_003341
VAR_003341 disease not phenotype-associated
VAR_003342 commonName VAR_003342
VAR_003342 disease phenotype-associated
VAR_003342 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003343 commonName VAR_003343
VAR_003343 disease phenotype-associated
VAR_003343 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003344 commonName VAR_003344
VAR_003345 commonName VAR_003345
VAR_003345 disease not phenotype-associated
VAR_003346 commonName VAR_003346
VAR_003346 disease phenotype-associated
VAR_003346 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003347 commonName VAR_003347
VAR_003347 disease phenotype-associated
VAR_003347 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003348 commonName VAR_003348
VAR_003348 disease phenotype-associated
VAR_003348 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_003350 commonName VAR_003350
VAR_003350 disease not phenotype-associated
VAR_003351 commonName VAR_003351
VAR_003351 disease phenotype-associated
VAR_003351 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003352 commonName VAR_003352
VAR_003352 disease phenotype-associated
VAR_003352 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003353 commonName VAR_003353
VAR_003353 disease phenotype-associated
VAR_003353 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003354 commonName VAR_003354
VAR_003354 disease phenotype-associated
VAR_003354 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_003355 commonName VAR_003355
VAR_003355 disease phenotype-associated
VAR_003355 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_003356 commonName VAR_003356
VAR_003356 disease not phenotype-associated
VAR_003357 commonName VAR_003357
VAR_003357 disease not phenotype-associated
VAR_003358 commonName VAR_003358
VAR_003358 disease phenotype-associated
VAR_003358 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003359 commonName VAR_003359
VAR_003359 disease not phenotype-associated
VAR_003360 commonName VAR_003360
VAR_003361 commonName VAR_003361
VAR_003361 disease phenotype-associated
VAR_003361 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003361 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003362 commonName VAR_003362
VAR_003362 disease phenotype-associated
VAR_003362 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003364 commonName VAR_003364
VAR_003364 disease not phenotype-associated
VAR_003365 commonName VAR_003365
VAR_003365 disease phenotype-associated
VAR_003365 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003366 commonName VAR_003366
VAR_003366 disease phenotype-associated
VAR_003366 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003367 commonName VAR_003367
VAR_003367 disease phenotype-associated
VAR_003367 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_003368 commonName VAR_003368
VAR_003368 disease phenotype-associated
VAR_003368 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003370 commonName VAR_003370
VAR_003370 disease phenotype-associated
VAR_003370 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003372 commonName VAR_003372
VAR_003372 disease not phenotype-associated
VAR_003373 commonName VAR_003373
VAR_003373 disease phenotype-associated
VAR_003373 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003374 commonName VAR_003374
VAR_003374 disease phenotype-associated
VAR_003374 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003374 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_003375 commonName VAR_003375
VAR_003375 disease phenotype-associated
VAR_003375 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_003376 commonName VAR_003376
VAR_003376 disease phenotype-associated
VAR_003376 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003377 commonName VAR_003377
VAR_003377 disease phenotype-associated
VAR_003377 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003378 commonName VAR_003378
VAR_003378 disease phenotype-associated
VAR_003378 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_003378 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003379 commonName VAR_003379
VAR_003379 disease phenotype-associated
VAR_003379 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_003380 commonName VAR_003380
VAR_003380 disease phenotype-associated
VAR_003380 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003381 commonName VAR_003381
VAR_003381 disease phenotype-associated
VAR_003381 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003382 commonName VAR_003382
VAR_003382 disease phenotype-associated
VAR_003382 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003383 commonName VAR_003383
VAR_003383 disease phenotype-associated
VAR_003383 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003384 commonName VAR_003384
VAR_003384 disease phenotype-associated
VAR_003384 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003385 commonName VAR_003385
VAR_003385 disease phenotype-associated
VAR_003385 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003386 commonName VAR_003386
VAR_003386 disease not phenotype-associated
VAR_003387 commonName VAR_003387
VAR_003387 disease phenotype-associated
VAR_003387 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003388 commonName VAR_003388
VAR_003388 disease phenotype-associated
VAR_003388 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003389 commonName VAR_003389
VAR_003389 disease phenotype-associated
VAR_003389 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003390 commonName VAR_003390
VAR_003390 disease phenotype-associated
VAR_003390 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003391 commonName VAR_003391
VAR_003391 disease phenotype-associated
VAR_003391 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003392 commonName VAR_003392
VAR_003392 disease phenotype-associated
VAR_003392 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003393 commonName VAR_003393
VAR_003393 disease phenotype-associated
VAR_003393 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003394 commonName VAR_003394
VAR_003394 disease phenotype-associated
VAR_003394 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003395 commonName VAR_003395
VAR_003395 disease phenotype-associated
VAR_003395 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_003409 commonName VAR_003409
VAR_003409 disease not phenotype-associated
VAR_003410 commonName VAR_003410
VAR_003410 disease not phenotype-associated
VAR_003415 commonName VAR_003415
VAR_003415 disease phenotype-associated
VAR_003415 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]
VAR_003416 commonName VAR_003416
VAR_003416 disease phenotype-associated
VAR_003416 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]
VAR_003417 commonName VAR_003417
VAR_003418 commonName VAR_003418
VAR_003419 commonName VAR_003419
VAR_003420 commonName VAR_003420
VAR_003421 commonName VAR_003421
VAR_003422 commonName VAR_003422
VAR_003422 disease not phenotype-associated
VAR_003423 commonName VAR_003423
VAR_003423 disease not phenotype-associated
VAR_003424 commonName VAR_003424
VAR_003424 disease not phenotype-associated
VAR_003425 commonName VAR_003425
VAR_003425 disease not phenotype-associated
VAR_003426 commonName VAR_003426
VAR_003426 disease not phenotype-associated
VAR_003427 commonName VAR_003427
VAR_003427 disease not phenotype-associated
VAR_003428 commonName VAR_003428
VAR_003428 disease not phenotype-associated
VAR_003429 commonName VAR_003429
VAR_003430 commonName VAR_003430
VAR_003430 disease not phenotype-associated
VAR_003431 commonName VAR_003431
VAR_003431 disease phenotype-associated
VAR_003431 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_003432 commonName VAR_003432
VAR_003432 disease phenotype-associated
VAR_003432 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_003433 commonName VAR_003433
VAR_003433 disease phenotype-associated
VAR_003433 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_003434 commonName VAR_003434
VAR_003434 disease phenotype-associated
VAR_003434 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_003435 commonName VAR_003435
VAR_003435 disease phenotype-associated
VAR_003435 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_003436 commonName VAR_003436
VAR_003436 disease phenotype-associated
VAR_003436 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777]
VAR_003437 commonName VAR_003437
VAR_003437 disease phenotype-associated
VAR_003437 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777]
VAR_003439 commonName VAR_003439
VAR_003439 disease phenotype-associated
VAR_003439 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_003440 commonName VAR_003440
VAR_003440 disease phenotype-associated
VAR_003440 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_003441 commonName VAR_003441
VAR_003441 disease phenotype-associated
VAR_003441 phenoCommon ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]
VAR_003441 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800]
VAR_003442 commonName VAR_003442
VAR_003442 disease phenotype-associated
VAR_003442 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800]
VAR_003443 commonName VAR_003443
VAR_003446 commonName VAR_003446
VAR_003446 disease not phenotype-associated
VAR_003448 commonName VAR_003448
VAR_003448 disease not phenotype-associated
VAR_003449 commonName VAR_003449
VAR_003449 disease not phenotype-associated
VAR_003450 commonName VAR_003450
VAR_003450 disease not phenotype-associated
VAR_003452 commonName VAR_003452
VAR_003452 disease not phenotype-associated
VAR_003453 commonName VAR_003453
VAR_003453 disease not phenotype-associated
VAR_003454 commonName VAR_003454
VAR_003454 disease not phenotype-associated
VAR_003455 commonName VAR_003455
VAR_003455 disease not phenotype-associated
VAR_003456 commonName VAR_003456
VAR_003456 disease not phenotype-associated
VAR_003457 commonName VAR_003457
VAR_003457 disease not phenotype-associated
VAR_003458 commonName VAR_003458
VAR_003458 disease not phenotype-associated
VAR_003459 commonName VAR_003459
VAR_003459 disease not phenotype-associated
VAR_003460 commonName VAR_003460
VAR_003460 disease not phenotype-associated
VAR_003461 commonName VAR_003461
VAR_003461 disease not phenotype-associated
VAR_003463 commonName VAR_003463
VAR_003463 disease not phenotype-associated
VAR_003464 commonName VAR_003464
VAR_003464 disease not phenotype-associated
VAR_003467 commonName VAR_003467
VAR_003467 disease not phenotype-associated
VAR_003468 commonName VAR_003468
VAR_003468 disease not phenotype-associated
VAR_003469 commonName VAR_003469
VAR_003469 disease not phenotype-associated
VAR_003470 commonName VAR_003470
VAR_003470 disease phenotype-associated
VAR_003470 phenoCommon Waardenburg syndrome type 4A (WS4A) [MIM:277580]
VAR_003471 commonName VAR_003471
VAR_003471 disease phenotype-associated
VAR_003471 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155]
VAR_003472 commonName VAR_003472
VAR_003472 disease phenotype-associated
VAR_003472 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155]
VAR_003473 commonName VAR_003473
VAR_003473 disease phenotype-associated
VAR_003473 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155]
VAR_003474 commonName VAR_003474
VAR_003474 disease phenotype-associated
VAR_003474 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155]
VAR_003475 commonName VAR_003475
VAR_003475 disease phenotype-associated
VAR_003475 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155]
VAR_003476 commonName VAR_003476
VAR_003476 disease not phenotype-associated
VAR_003477 commonName VAR_003477
VAR_003477 disease not phenotype-associated
VAR_003478 commonName VAR_003478
VAR_003478 disease not phenotype-associated
VAR_003479 commonName VAR_003479
VAR_003479 disease not phenotype-associated
VAR_003480 commonName VAR_003480
VAR_003480 disease not phenotype-associated
VAR_003481 commonName VAR_003481
VAR_003482 commonName VAR_003482
VAR_003482 disease not phenotype-associated
VAR_003483 commonName VAR_003483
VAR_003484 commonName VAR_003484
VAR_003485 commonName VAR_003485
VAR_003486 commonName VAR_003486
VAR_003487 commonName VAR_003487
VAR_003488 commonName VAR_003488
VAR_003489 commonName VAR_003489
VAR_003490 commonName VAR_003490
VAR_003491 commonName VAR_003491
VAR_003492 commonName VAR_003492
VAR_003493 commonName VAR_003493
VAR_003494 commonName VAR_003494
VAR_003495 commonName VAR_003495
VAR_003496 commonName VAR_003496
VAR_003497 commonName VAR_003497
VAR_003498 commonName VAR_003498
VAR_003499 commonName VAR_003499
VAR_003500 commonName VAR_003500
VAR_003501 commonName VAR_003501
VAR_003502 commonName VAR_003502
VAR_003503 commonName VAR_003503
VAR_003503 disease not phenotype-associated
VAR_003504 commonName VAR_003504
VAR_003504 disease not phenotype-associated
VAR_003505 commonName VAR_003505
VAR_003506 commonName VAR_003506
VAR_003507 commonName VAR_003507
VAR_003507 disease not phenotype-associated
VAR_003508 commonName VAR_003508
VAR_003508 disease not phenotype-associated
VAR_003509 commonName VAR_003509
VAR_003509 disease not phenotype-associated
VAR_003510 commonName VAR_003510
VAR_003510 disease phenotype-associated
VAR_003510 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_003511 commonName VAR_003511
VAR_003511 disease phenotype-associated
VAR_003511 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_003512 commonName VAR_003512
VAR_003512 disease phenotype-associated
VAR_003512 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_003513 commonName VAR_003513
VAR_003513 disease phenotype-associated
VAR_003513 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_003514 commonName VAR_003514
VAR_003514 disease not phenotype-associated
VAR_003515 commonName VAR_003515
VAR_003515 disease phenotype-associated
VAR_003515 phenoCommon Bleeding disorder platelet-type 13 (BDPLT13) [MIM:614009]
VAR_003516 commonName VAR_003516
VAR_003516 disease not phenotype-associated
VAR_003517 commonName VAR_003517
VAR_003517 disease phenotype-associated
VAR_003517 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003519 commonName VAR_003519
VAR_003519 disease not phenotype-associated
VAR_003520 commonName VAR_003520
VAR_003520 disease phenotype-associated
VAR_003520 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003521 commonName VAR_003521
VAR_003521 disease phenotype-associated
VAR_003521 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003522 commonName VAR_003522
VAR_003522 disease phenotype-associated
VAR_003522 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003523 commonName VAR_003523
VAR_003523 disease phenotype-associated
VAR_003523 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003524 commonName VAR_003524
VAR_003524 disease phenotype-associated
VAR_003524 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003525 commonName VAR_003525
VAR_003525 disease phenotype-associated
VAR_003525 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003526 commonName VAR_003526
VAR_003526 disease phenotype-associated
VAR_003526 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003527 commonName VAR_003527
VAR_003527 disease phenotype-associated
VAR_003527 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003528 commonName VAR_003528
VAR_003528 disease phenotype-associated
VAR_003528 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003529 commonName VAR_003529
VAR_003529 disease phenotype-associated
VAR_003529 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003530 commonName VAR_003530
VAR_003530 disease not phenotype-associated
VAR_003531 commonName VAR_003531
VAR_003531 disease phenotype-associated
VAR_003531 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003532 commonName VAR_003532
VAR_003532 disease phenotype-associated
VAR_003532 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003533 commonName VAR_003533
VAR_003533 disease phenotype-associated
VAR_003533 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003534 commonName VAR_003534
VAR_003534 disease phenotype-associated
VAR_003534 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003535 commonName VAR_003535
VAR_003535 disease phenotype-associated
VAR_003535 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003536 commonName VAR_003536
VAR_003536 disease phenotype-associated
VAR_003536 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003537 commonName VAR_003537
VAR_003537 disease phenotype-associated
VAR_003537 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003538 commonName VAR_003538
VAR_003538 disease phenotype-associated
VAR_003538 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003541 commonName VAR_003541
VAR_003541 disease phenotype-associated
VAR_003541 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003542 commonName VAR_003542
VAR_003543 commonName VAR_003543
VAR_003543 disease phenotype-associated
VAR_003543 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003544 commonName VAR_003544
VAR_003544 disease phenotype-associated
VAR_003544 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003545 commonName VAR_003545
VAR_003545 disease phenotype-associated
VAR_003545 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003546 commonName VAR_003546
VAR_003546 disease phenotype-associated
VAR_003546 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003547 commonName VAR_003547
VAR_003547 disease phenotype-associated
VAR_003547 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003548 commonName VAR_003548
VAR_003548 disease phenotype-associated
VAR_003548 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_003550 commonName VAR_003550
VAR_003550 disease not phenotype-associated
VAR_003551 commonName VAR_003551
VAR_003551 disease not phenotype-associated
VAR_003552 commonName VAR_003552
VAR_003552 disease phenotype-associated
VAR_003552 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_003553 commonName VAR_003553
VAR_003553 disease phenotype-associated
VAR_003553 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003554 commonName VAR_003554
VAR_003554 disease phenotype-associated
VAR_003554 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003555 commonName VAR_003555
VAR_003555 disease phenotype-associated
VAR_003555 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003556 commonName VAR_003556
VAR_003556 disease phenotype-associated
VAR_003556 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003557 commonName VAR_003557
VAR_003557 disease phenotype-associated
VAR_003557 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003558 commonName VAR_003558
VAR_003558 disease phenotype-associated
VAR_003558 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003559 commonName VAR_003559
VAR_003559 disease phenotype-associated
VAR_003559 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_003560 commonName VAR_003560
VAR_003560 disease phenotype-associated
VAR_003560 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_003562 commonName VAR_003562
VAR_003562 disease phenotype-associated
VAR_003562 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_003563 commonName VAR_003563
VAR_003563 disease phenotype-associated
VAR_003563 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_003564 commonName VAR_003564
VAR_003565 commonName VAR_003565
VAR_003565 disease not phenotype-associated
VAR_003566 commonName VAR_003566
VAR_003566 disease phenotype-associated
VAR_003566 phenoCommon Familial gestational hyperthyroidism (HTFG) [MIM:603373]
VAR_003567 comment Papillary cancer
VAR_003567 commonName VAR_003567
VAR_003568 comment Papillary cancer
VAR_003568 commonName VAR_003568
VAR_003569 commonName VAR_003569
VAR_003570 commonName VAR_003570
VAR_003570 disease phenotype-associated
VAR_003570 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_003571 commonName VAR_003571
VAR_003571 disease phenotype-associated
VAR_003571 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_003572 commonName VAR_003572
VAR_003572 disease not phenotype-associated
VAR_003573 commonName VAR_003573
VAR_003574 commonName VAR_003574
VAR_003575 commonName VAR_003575
VAR_003575 disease phenotype-associated
VAR_003575 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_003576 comment Papillary cancer
VAR_003576 commonName VAR_003576
VAR_003577 comment Papillary cancer
VAR_003577 commonName VAR_003577
VAR_003578 commonName VAR_003578
VAR_003578 disease not phenotype-associated
VAR_003579 commonName VAR_003579
VAR_003579 disease not phenotype-associated
VAR_003581 commonName VAR_003581
VAR_003581 disease not phenotype-associated
VAR_003582 commonName VAR_003582
VAR_003582 disease phenotype-associated
VAR_003582 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]
VAR_003583 commonName VAR_003583
VAR_003583 disease phenotype-associated
VAR_003583 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]
VAR_003584 commonName VAR_003584
VAR_003584 disease not phenotype-associated
VAR_003585 commonName VAR_003585
VAR_003585 disease phenotype-associated
VAR_003585 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003586 commonName VAR_003586
VAR_003586 disease phenotype-associated
VAR_003586 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003586 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
VAR_003587 commonName VAR_003587
VAR_003587 disease phenotype-associated
VAR_003587 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003588 commonName VAR_003588
VAR_003588 disease phenotype-associated
VAR_003588 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_003589 commonName VAR_003589
VAR_003590 commonName VAR_003590
VAR_003590 disease phenotype-associated
VAR_003590 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003591 commonName VAR_003591
VAR_003591 disease phenotype-associated
VAR_003591 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003592 commonName VAR_003592
VAR_003592 disease phenotype-associated
VAR_003592 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003593 commonName VAR_003593
VAR_003593 disease phenotype-associated
VAR_003593 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003594 commonName VAR_003594
VAR_003594 disease phenotype-associated
VAR_003594 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
VAR_003595 commonName VAR_003595
VAR_003595 disease phenotype-associated
VAR_003595 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003596 commonName VAR_003596
VAR_003596 disease phenotype-associated
VAR_003596 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003596 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
VAR_003597 commonName VAR_003597
VAR_003597 disease phenotype-associated
VAR_003597 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
VAR_003598 commonName VAR_003598
VAR_003598 disease phenotype-associated
VAR_003598 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_003599 commonName VAR_003599
VAR_003599 disease phenotype-associated
VAR_003599 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_003600 commonName VAR_003600
VAR_003600 disease phenotype-associated
VAR_003600 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_003601 commonName VAR_003601
VAR_003601 disease not phenotype-associated
VAR_003602 commonName VAR_003602
VAR_003602 disease phenotype-associated
VAR_003602 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003603 commonName VAR_003603
VAR_003603 disease phenotype-associated
VAR_003603 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003604 commonName VAR_003604
VAR_003604 disease phenotype-associated
VAR_003604 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003605 commonName VAR_003605
VAR_003605 disease phenotype-associated
VAR_003605 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003606 commonName VAR_003606
VAR_003606 disease phenotype-associated
VAR_003606 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003607 commonName VAR_003607
VAR_003607 disease phenotype-associated
VAR_003607 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003608 commonName VAR_003608
VAR_003608 disease phenotype-associated
VAR_003608 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003609 commonName VAR_003609
VAR_003609 disease phenotype-associated
VAR_003609 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003610 commonName VAR_003610
VAR_003610 disease phenotype-associated
VAR_003610 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003611 commonName VAR_003611
VAR_003611 disease phenotype-associated
VAR_003611 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003612 commonName VAR_003612
VAR_003612 disease phenotype-associated
VAR_003612 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
VAR_003615 commonName VAR_003615
VAR_003616 commonName VAR_003616
VAR_003616 disease not phenotype-associated
VAR_003617 commonName VAR_003617
VAR_003617 disease not phenotype-associated
VAR_003618 commonName VAR_003618
VAR_003618 disease not phenotype-associated
VAR_003619 commonName VAR_003619
VAR_003619 disease phenotype-associated
VAR_003619 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_003620 commonName VAR_003620
VAR_003620 disease phenotype-associated
VAR_003620 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_003621 commonName VAR_003621
VAR_003621 disease phenotype-associated
VAR_003621 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_003622 commonName VAR_003622
VAR_003622 disease phenotype-associated
VAR_003622 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_003622 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_003623 commonName VAR_003623
VAR_003623 disease phenotype-associated
VAR_003623 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_003623 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_003625 commonName VAR_003625
VAR_003625 disease phenotype-associated
VAR_003625 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_003626 commonName VAR_003626
VAR_003626 disease phenotype-associated
VAR_003626 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_003626 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_003627 commonName VAR_003627
VAR_003627 disease phenotype-associated
VAR_003627 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_003628 commonName VAR_003628
VAR_003632 commonName VAR_003632
VAR_003632 disease phenotype-associated
VAR_003632 phenoCommon Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]
VAR_003633 commonName VAR_003633
VAR_003633 disease not phenotype-associated
VAR_003634 commonName VAR_003634
VAR_003634 disease phenotype-associated
VAR_003634 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740]
VAR_003635 commonName VAR_003635
VAR_003635 disease phenotype-associated
VAR_003635 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740]
VAR_003636 commonName VAR_003636
VAR_003636 disease phenotype-associated
VAR_003636 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740]
VAR_003637 commonName VAR_003637
VAR_003637 disease phenotype-associated
VAR_003637 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740]
VAR_003638 commonName VAR_003638
VAR_003638 disease phenotype-associated
VAR_003638 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003639 commonName VAR_003639
VAR_003639 disease phenotype-associated
VAR_003639 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003640 commonName VAR_003640
VAR_003640 disease phenotype-associated
VAR_003640 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003641 commonName VAR_003641
VAR_003641 disease phenotype-associated
VAR_003641 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003642 commonName VAR_003642
VAR_003642 disease phenotype-associated
VAR_003642 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003643 commonName VAR_003643
VAR_003643 disease phenotype-associated
VAR_003643 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003644 commonName VAR_003644
VAR_003644 disease phenotype-associated
VAR_003644 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003645 commonName VAR_003645
VAR_003645 disease phenotype-associated
VAR_003645 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003646 commonName VAR_003646
VAR_003646 disease phenotype-associated
VAR_003646 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003647 commonName VAR_003647
VAR_003647 disease phenotype-associated
VAR_003647 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003648 commonName VAR_003648
VAR_003648 disease phenotype-associated
VAR_003648 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003649 commonName VAR_003649
VAR_003649 disease phenotype-associated
VAR_003649 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003650 commonName VAR_003650
VAR_003650 disease phenotype-associated
VAR_003650 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003651 commonName VAR_003651
VAR_003651 disease phenotype-associated
VAR_003651 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003652 commonName VAR_003652
VAR_003652 disease phenotype-associated
VAR_003652 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003653 commonName VAR_003653
VAR_003653 disease phenotype-associated
VAR_003653 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003654 commonName VAR_003654
VAR_003654 disease phenotype-associated
VAR_003654 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003655 commonName VAR_003655
VAR_003655 disease phenotype-associated
VAR_003655 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003656 commonName VAR_003656
VAR_003656 disease phenotype-associated
VAR_003656 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003657 commonName VAR_003657
VAR_003657 disease phenotype-associated
VAR_003657 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003658 commonName VAR_003658
VAR_003658 disease phenotype-associated
VAR_003658 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003659 commonName VAR_003659
VAR_003659 disease phenotype-associated
VAR_003659 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003660 commonName VAR_003660
VAR_003660 disease phenotype-associated
VAR_003660 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003661 commonName VAR_003661
VAR_003661 disease phenotype-associated
VAR_003661 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003662 commonName VAR_003662
VAR_003662 disease phenotype-associated
VAR_003662 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003663 commonName VAR_003663
VAR_003663 disease phenotype-associated
VAR_003663 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003664 commonName VAR_003664
VAR_003664 disease phenotype-associated
VAR_003664 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003665 commonName VAR_003665
VAR_003665 disease phenotype-associated
VAR_003665 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003666 commonName VAR_003666
VAR_003666 disease phenotype-associated
VAR_003666 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003667 commonName VAR_003667
VAR_003667 disease phenotype-associated
VAR_003667 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003668 commonName VAR_003668
VAR_003668 disease phenotype-associated
VAR_003668 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003669 commonName VAR_003669
VAR_003669 disease phenotype-associated
VAR_003669 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003670 commonName VAR_003670
VAR_003670 disease phenotype-associated
VAR_003670 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003671 commonName VAR_003671
VAR_003671 disease phenotype-associated
VAR_003671 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003672 commonName VAR_003672
VAR_003672 disease phenotype-associated
VAR_003672 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003673 commonName VAR_003673
VAR_003673 disease phenotype-associated
VAR_003673 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_003674 commonName VAR_003674
VAR_003674 disease phenotype-associated
VAR_003674 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003675 commonName VAR_003675
VAR_003675 disease phenotype-associated
VAR_003675 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003676 commonName VAR_003676
VAR_003676 disease phenotype-associated
VAR_003676 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003677 commonName VAR_003677
VAR_003677 disease phenotype-associated
VAR_003677 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003678 commonName VAR_003678
VAR_003678 disease phenotype-associated
VAR_003678 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003679 commonName VAR_003679
VAR_003679 disease phenotype-associated
VAR_003679 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003680 commonName VAR_003680
VAR_003680 disease phenotype-associated
VAR_003680 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003681 commonName VAR_003681
VAR_003681 disease phenotype-associated
VAR_003681 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003682 commonName VAR_003682
VAR_003682 disease phenotype-associated
VAR_003682 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003683 commonName VAR_003683
VAR_003683 disease phenotype-associated
VAR_003683 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003684 commonName VAR_003684
VAR_003684 disease phenotype-associated
VAR_003684 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003685 commonName VAR_003685
VAR_003685 disease phenotype-associated
VAR_003685 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_003686 commonName VAR_003686
VAR_003686 disease phenotype-associated
VAR_003686 phenoCommon Variegate porphyria (VP) [MIM:176200]
VAR_003687 commonName VAR_003687
VAR_003687 disease phenotype-associated
VAR_003687 phenoCommon Variegate porphyria (VP) [MIM:176200]
VAR_003688 commonName VAR_003688
VAR_003688 disease not phenotype-associated
VAR_003689 commonName VAR_003689
VAR_003689 disease phenotype-associated
VAR_003689 phenoCommon Variegate porphyria (VP) [MIM:176200]
VAR_003690 commonName VAR_003690
VAR_003690 disease not phenotype-associated
VAR_003691 commonName VAR_003691
VAR_003691 disease not phenotype-associated
VAR_003692 commonName VAR_003692
VAR_003692 disease not phenotype-associated
VAR_003693 commonName VAR_003693
VAR_003693 disease phenotype-associated
VAR_003693 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003694 commonName VAR_003694
VAR_003694 disease phenotype-associated
VAR_003694 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003695 commonName VAR_003695
VAR_003695 disease phenotype-associated
VAR_003695 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003696 commonName VAR_003696
VAR_003696 disease not phenotype-associated
VAR_003697 commonName VAR_003697
VAR_003697 disease phenotype-associated
VAR_003697 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003698 commonName VAR_003698
VAR_003698 disease phenotype-associated
VAR_003698 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003699 commonName VAR_003699
VAR_003699 disease phenotype-associated
VAR_003699 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003700 commonName VAR_003700
VAR_003700 disease phenotype-associated
VAR_003700 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003701 commonName VAR_003701
VAR_003701 disease phenotype-associated
VAR_003701 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003702 commonName VAR_003702
VAR_003702 disease phenotype-associated
VAR_003702 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003703 commonName VAR_003703
VAR_003703 disease phenotype-associated
VAR_003703 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003704 commonName VAR_003704
VAR_003704 disease phenotype-associated
VAR_003704 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003705 commonName VAR_003705
VAR_003705 disease phenotype-associated
VAR_003705 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003706 commonName VAR_003706
VAR_003706 disease phenotype-associated
VAR_003706 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003707 commonName VAR_003707
VAR_003707 disease phenotype-associated
VAR_003707 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003708 commonName VAR_003708
VAR_003708 disease phenotype-associated
VAR_003708 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003709 commonName VAR_003709
VAR_003709 disease phenotype-associated
VAR_003709 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003710 commonName VAR_003710
VAR_003710 disease phenotype-associated
VAR_003710 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003711 commonName VAR_003711
VAR_003711 disease phenotype-associated
VAR_003711 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003712 commonName VAR_003712
VAR_003712 disease phenotype-associated
VAR_003712 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003713 commonName VAR_003713
VAR_003713 disease phenotype-associated
VAR_003713 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003714 commonName VAR_003714
VAR_003714 disease phenotype-associated
VAR_003714 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_003715 commonName VAR_003715
VAR_003715 disease phenotype-associated
VAR_003715 phenoCommon Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485]
VAR_003716 commonName VAR_003716
VAR_003717 commonName VAR_003717
VAR_003717 disease phenotype-associated
VAR_003717 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003718 commonName VAR_003718
VAR_003718 disease phenotype-associated
VAR_003718 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003719 commonName VAR_003719
VAR_003719 disease phenotype-associated
VAR_003719 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003720 commonName VAR_003720
VAR_003720 disease phenotype-associated
VAR_003720 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003721 commonName VAR_003721
VAR_003721 disease phenotype-associated
VAR_003721 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003722 commonName VAR_003722
VAR_003722 disease phenotype-associated
VAR_003722 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003723 commonName VAR_003723
VAR_003723 disease phenotype-associated
VAR_003723 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003724 commonName VAR_003724
VAR_003724 disease phenotype-associated
VAR_003724 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003725 commonName VAR_003725
VAR_003725 disease phenotype-associated
VAR_003725 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003726 commonName VAR_003726
VAR_003726 disease phenotype-associated
VAR_003726 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003727 commonName VAR_003727
VAR_003727 disease phenotype-associated
VAR_003727 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003728 commonName VAR_003728
VAR_003728 disease phenotype-associated
VAR_003728 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003729 commonName VAR_003729
VAR_003729 disease phenotype-associated
VAR_003729 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003730 commonName VAR_003730
VAR_003730 disease phenotype-associated
VAR_003730 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003731 commonName VAR_003731
VAR_003731 disease phenotype-associated
VAR_003731 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003732 commonName VAR_003732
VAR_003732 disease phenotype-associated
VAR_003732 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003733 commonName VAR_003733
VAR_003733 disease phenotype-associated
VAR_003733 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003734 commonName VAR_003734
VAR_003734 disease phenotype-associated
VAR_003734 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_003735 commonName VAR_003735
VAR_003735 disease phenotype-associated
VAR_003735 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003736 commonName VAR_003736
VAR_003736 disease phenotype-associated
VAR_003736 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003737 commonName VAR_003737
VAR_003737 disease phenotype-associated
VAR_003737 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003738 commonName VAR_003738
VAR_003738 disease phenotype-associated
VAR_003738 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003739 commonName VAR_003739
VAR_003739 disease phenotype-associated
VAR_003739 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003740 commonName VAR_003740
VAR_003740 disease phenotype-associated
VAR_003740 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003741 commonName VAR_003741
VAR_003741 disease phenotype-associated
VAR_003741 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_003744 commonName VAR_003744
VAR_003744 disease phenotype-associated
VAR_003744 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_003745 commonName VAR_003745
VAR_003745 disease phenotype-associated
VAR_003745 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_003746 commonName VAR_003746
VAR_003746 disease phenotype-associated
VAR_003746 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_003747 commonName VAR_003747
VAR_003747 disease phenotype-associated
VAR_003747 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_003748 commonName VAR_003748
VAR_003748 disease phenotype-associated
VAR_003748 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_003750 commonName VAR_003750
VAR_003750 disease phenotype-associated
VAR_003750 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
VAR_003751 commonName VAR_003751
VAR_003751 disease phenotype-associated
VAR_003751 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
VAR_003752 commonName VAR_003752
VAR_003752 disease phenotype-associated
VAR_003752 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_003753 commonName VAR_003753
VAR_003753 disease not phenotype-associated
VAR_003754 commonName VAR_003754
VAR_003754 disease phenotype-associated
VAR_003754 phenoCommon Tooth agenesis selective type 1 (STHAG1) [MIM:106600]
VAR_003755 commonName VAR_003755
VAR_003755 disease phenotype-associated
VAR_003755 phenoCommon Craniosynostosis type 2 (CRS2) [MIM:604757]
VAR_003756 commonName VAR_003756
VAR_003756 disease phenotype-associated
VAR_003756 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_003757 commonName VAR_003757
VAR_003757 disease phenotype-associated
VAR_003757 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_003758 commonName VAR_003758
VAR_003758 disease phenotype-associated
VAR_003758 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_003759 commonName VAR_003759
VAR_003759 disease phenotype-associated
VAR_003759 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]
VAR_003759 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_003760 commonName VAR_003760
VAR_003760 disease phenotype-associated
VAR_003760 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_003762 commonName VAR_003762
VAR_003762 disease phenotype-associated
VAR_003762 phenoCommon Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]
VAR_003763 commonName VAR_003763
VAR_003763 disease phenotype-associated
VAR_003763 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_003764 commonName VAR_003764
VAR_003764 disease phenotype-associated
VAR_003764 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_003765 commonName VAR_003765
VAR_003765 disease phenotype-associated
VAR_003765 phenoCommon Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]
VAR_003766 commonName VAR_003766
VAR_003766 disease phenotype-associated
VAR_003766 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_003767 commonName VAR_003767
VAR_003767 disease phenotype-associated
VAR_003767 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_003768 commonName VAR_003768
VAR_003768 disease phenotype-associated
VAR_003768 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_003769 commonName VAR_003769
VAR_003769 disease phenotype-associated
VAR_003769 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_003770 commonName VAR_003770
VAR_003770 disease phenotype-associated
VAR_003770 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_003771 commonName VAR_003771
VAR_003771 disease phenotype-associated
VAR_003771 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_003772 commonName VAR_003772
VAR_003772 disease phenotype-associated
VAR_003772 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_003773 commonName VAR_003773
VAR_003773 disease phenotype-associated
VAR_003773 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_003776 commonName VAR_003776
VAR_003776 disease not phenotype-associated
VAR_003777 commonName VAR_003777
VAR_003777 disease phenotype-associated
VAR_003777 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_003778 commonName VAR_003778
VAR_003778 disease phenotype-associated
VAR_003778 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_003779 commonName VAR_003779
VAR_003779 disease phenotype-associated
VAR_003779 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_003780 commonName VAR_003780
VAR_003780 disease not phenotype-associated
VAR_003781 commonName VAR_003781
VAR_003781 disease phenotype-associated
VAR_003781 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_003782 commonName VAR_003782
VAR_003782 disease phenotype-associated
VAR_003782 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400]
VAR_003783 commonName VAR_003783
VAR_003783 disease phenotype-associated
VAR_003783 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400]
VAR_003784 commonName VAR_003784
VAR_003784 disease phenotype-associated
VAR_003784 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400]
VAR_003785 commonName VAR_003785
VAR_003785 disease phenotype-associated
VAR_003785 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400]
VAR_003786 commonName VAR_003786
VAR_003786 disease phenotype-associated
VAR_003786 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400]
VAR_003787 commonName VAR_003787
VAR_003789 commonName VAR_003789
VAR_003789 disease phenotype-associated
VAR_003789 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_003790 commonName VAR_003790
VAR_003790 disease phenotype-associated
VAR_003790 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003791 commonName VAR_003791
VAR_003791 disease phenotype-associated
VAR_003791 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820]
VAR_003792 commonName VAR_003792
VAR_003792 disease phenotype-associated
VAR_003792 phenoCommon Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]
VAR_003793 commonName VAR_003793
VAR_003793 disease phenotype-associated
VAR_003793 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003794 commonName VAR_003794
VAR_003794 disease phenotype-associated
VAR_003794 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003795 commonName VAR_003795
VAR_003795 disease phenotype-associated
VAR_003795 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003796 commonName VAR_003796
VAR_003796 disease phenotype-associated
VAR_003796 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003797 commonName VAR_003797
VAR_003797 disease phenotype-associated
VAR_003797 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003798 commonName VAR_003798
VAR_003798 disease phenotype-associated
VAR_003798 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003800 commonName VAR_003800
VAR_003800 disease phenotype-associated
VAR_003800 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003801 commonName VAR_003801
VAR_003801 disease phenotype-associated
VAR_003801 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820]
VAR_003802 commonName VAR_003802
VAR_003802 disease phenotype-associated
VAR_003802 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003803 commonName VAR_003803
VAR_003803 disease phenotype-associated
VAR_003803 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003804 commonName VAR_003804
VAR_003804 disease phenotype-associated
VAR_003804 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003805 commonName VAR_003805
VAR_003805 disease phenotype-associated
VAR_003805 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003806 commonName VAR_003806
VAR_003806 disease phenotype-associated
VAR_003806 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_003807 commonName VAR_003807
VAR_003807 disease not phenotype-associated
VAR_003808 commonName VAR_003808
VAR_003808 disease phenotype-associated
VAR_003808 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003809 commonName VAR_003809
VAR_003809 disease phenotype-associated
VAR_003809 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003810 commonName VAR_003810
VAR_003810 disease phenotype-associated
VAR_003810 phenoCommon Peters anomaly (PAN) [MIM:604229]
VAR_003811 commonName VAR_003811
VAR_003811 disease phenotype-associated
VAR_003811 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003812 commonName VAR_003812
VAR_003812 disease phenotype-associated
VAR_003812 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003813 commonName VAR_003813
VAR_003813 disease phenotype-associated
VAR_003813 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003814 commonName VAR_003814
VAR_003814 disease phenotype-associated
VAR_003814 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520]
VAR_003815 commonName VAR_003815
VAR_003815 disease phenotype-associated
VAR_003815 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003816 commonName VAR_003816
VAR_003816 disease phenotype-associated
VAR_003816 phenoCommon Aniridia (AN) [MIM:106210]
VAR_003819 commonName VAR_003819
VAR_003819 disease phenotype-associated
VAR_003819 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_003821 commonName VAR_003821
VAR_003821 disease not phenotype-associated
VAR_003822 commonName VAR_003822
VAR_003822 disease phenotype-associated
VAR_003822 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_003823 commonName VAR_003823
VAR_003823 disease phenotype-associated
VAR_003823 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_003824 commonName VAR_003824
VAR_003824 disease phenotype-associated
VAR_003824 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_003825 commonName VAR_003825
VAR_003825 disease phenotype-associated
VAR_003825 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_003826 commonName VAR_003826
VAR_003826 disease phenotype-associated
VAR_003826 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003827 commonName VAR_003827
VAR_003827 disease phenotype-associated
VAR_003827 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003828 commonName VAR_003828
VAR_003828 disease phenotype-associated
VAR_003828 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003829 commonName VAR_003829
VAR_003829 disease phenotype-associated
VAR_003829 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003830 commonName VAR_003830
VAR_003830 disease phenotype-associated
VAR_003830 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003831 commonName VAR_003831
VAR_003831 disease phenotype-associated
VAR_003831 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003832 commonName VAR_003832
VAR_003832 disease phenotype-associated
VAR_003832 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003833 commonName VAR_003833
VAR_003833 disease phenotype-associated
VAR_003833 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003834 commonName VAR_003834
VAR_003834 disease phenotype-associated
VAR_003834 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_003835 commonName VAR_003835
VAR_003835 disease phenotype-associated
VAR_003835 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_003836 commonName VAR_003836
VAR_003836 disease phenotype-associated
VAR_003836 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900]
VAR_003837 commonName VAR_003837
VAR_003837 disease phenotype-associated
VAR_003837 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_003838 commonName VAR_003838
VAR_003838 disease phenotype-associated
VAR_003838 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_003839 commonName VAR_003839
VAR_003839 disease phenotype-associated
VAR_003839 phenoCommon Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]
VAR_003840 commonName VAR_003840
VAR_003840 disease phenotype-associated
VAR_003840 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_003841 commonName VAR_003841
VAR_003841 disease phenotype-associated
VAR_003841 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_003843 commonName VAR_003843
VAR_003843 disease phenotype-associated
VAR_003843 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_003844 commonName VAR_003844
VAR_003844 disease phenotype-associated
VAR_003844 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_003845 commonName VAR_003845
VAR_003845 disease phenotype-associated
VAR_003845 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_003846 commonName VAR_003846
VAR_003846 disease phenotype-associated
VAR_003846 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_003847 commonName VAR_003847
VAR_003847 disease phenotype-associated
VAR_003847 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_003848 commonName VAR_003848
VAR_003848 disease phenotype-associated
VAR_003848 phenoCommon Steatocystoma multiplex (SM) [MIM:184500]
VAR_003849 commonName VAR_003849
VAR_003849 disease phenotype-associated
VAR_003849 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_003850 commonName VAR_003850
VAR_003850 disease phenotype-associated
VAR_003850 phenoCommon Steatocystoma multiplex (SM) [MIM:184500]
VAR_003851 commonName VAR_003851
VAR_003851 disease phenotype-associated
VAR_003851 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_003852 commonName VAR_003852
VAR_003852 disease phenotype-associated
VAR_003852 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_003853 commonName VAR_003853
VAR_003853 disease phenotype-associated
VAR_003853 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003854 commonName VAR_003854
VAR_003854 disease phenotype-associated
VAR_003854 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003855 commonName VAR_003855
VAR_003855 disease phenotype-associated
VAR_003855 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003856 commonName VAR_003856
VAR_003856 disease phenotype-associated
VAR_003856 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003857 commonName VAR_003857
VAR_003857 disease phenotype-associated
VAR_003857 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003858 commonName VAR_003858
VAR_003858 disease not phenotype-associated
VAR_003859 commonName VAR_003859
VAR_003859 disease not phenotype-associated
VAR_003860 commonName VAR_003860
VAR_003860 disease not phenotype-associated
VAR_003861 commonName VAR_003861
VAR_003861 disease phenotype-associated
VAR_003861 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_003862 commonName VAR_003862
VAR_003862 disease not phenotype-associated
VAR_003863 commonName VAR_003863
VAR_003863 disease not phenotype-associated
VAR_003865 commonName VAR_003865
VAR_003865 disease phenotype-associated
VAR_003865 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_003866 commonName VAR_003866
VAR_003866 disease phenotype-associated
VAR_003866 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_003867 commonName VAR_003867
VAR_003867 disease phenotype-associated
VAR_003867 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_003868 commonName VAR_003868
VAR_003868 disease phenotype-associated
VAR_003868 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_003871 commonName VAR_003871
VAR_003871 disease not phenotype-associated
VAR_003872 commonName VAR_003872
VAR_003872 disease phenotype-associated
VAR_003872 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_003873 commonName VAR_003873
VAR_003873 disease phenotype-associated
VAR_003873 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_003873 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_003874 commonName VAR_003874
VAR_003874 disease phenotype-associated
VAR_003874 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_003875 commonName VAR_003875
VAR_003875 disease phenotype-associated
VAR_003875 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_003876 commonName VAR_003876
VAR_003876 disease phenotype-associated
VAR_003876 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_003877 commonName VAR_003877
VAR_003877 disease phenotype-associated
VAR_003877 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_003885 commonName VAR_003885
VAR_003885 disease not phenotype-associated
VAR_003886 commonName VAR_003886
VAR_003887 commonName VAR_003887
VAR_003888 commonName VAR_003888
VAR_003905 commonName VAR_003905
VAR_003905 disease not phenotype-associated
VAR_003906 commonName VAR_003906
VAR_003906 disease not phenotype-associated
VAR_003907 commonName VAR_003907
VAR_003907 disease not phenotype-associated
VAR_003908 commonName VAR_003908
VAR_003908 disease not phenotype-associated
VAR_003909 comment A esophageal carcinoma
VAR_003909 commonName VAR_003909
VAR_003910 commonName VAR_003910
VAR_003910 disease not phenotype-associated
VAR_003912 commonName VAR_003912
VAR_003913 commonName VAR_003913
VAR_003914 commonName VAR_003914
VAR_003914 disease not phenotype-associated
VAR_003915 commonName VAR_003915
VAR_003915 disease not phenotype-associated
VAR_003916 commonName VAR_003916
VAR_003916 disease not phenotype-associated
VAR_003920 commonName VAR_003920
VAR_003920 disease not phenotype-associated
VAR_003921 commonName VAR_003921
VAR_003921 disease phenotype-associated
VAR_003921 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003922 commonName VAR_003922
VAR_003922 disease phenotype-associated
VAR_003922 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003923 commonName VAR_003923
VAR_003923 disease phenotype-associated
VAR_003923 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003923 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003923 phenoCommon Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]
VAR_003924 commonName VAR_003924
VAR_003924 disease phenotype-associated
VAR_003924 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003925 commonName VAR_003925
VAR_003925 disease phenotype-associated
VAR_003925 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003926 commonName VAR_003926
VAR_003926 disease phenotype-associated
VAR_003926 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003927 commonName VAR_003927
VAR_003927 disease phenotype-associated
VAR_003927 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003928 commonName VAR_003928
VAR_003928 disease phenotype-associated
VAR_003928 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003928 phenoCommon Partial agenesis of the corpus callosum (ACCPX) [MIM:304100]
VAR_003929 commonName VAR_003929
VAR_003929 disease phenotype-associated
VAR_003929 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003930 commonName VAR_003930
VAR_003930 disease phenotype-associated
VAR_003930 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003931 commonName VAR_003931
VAR_003931 disease phenotype-associated
VAR_003931 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003931 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003932 commonName VAR_003932
VAR_003932 disease phenotype-associated
VAR_003932 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003932 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003932 phenoCommon Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]
VAR_003933 commonName VAR_003933
VAR_003933 disease phenotype-associated
VAR_003933 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003935 commonName VAR_003935
VAR_003935 disease phenotype-associated
VAR_003935 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003936 commonName VAR_003936
VAR_003936 disease phenotype-associated
VAR_003936 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003936 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003937 commonName VAR_003937
VAR_003937 disease phenotype-associated
VAR_003937 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003938 commonName VAR_003938
VAR_003938 disease phenotype-associated
VAR_003938 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003939 commonName VAR_003939
VAR_003939 disease phenotype-associated
VAR_003939 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003940 commonName VAR_003940
VAR_003940 disease phenotype-associated
VAR_003940 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003940 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003941 commonName VAR_003941
VAR_003941 disease phenotype-associated
VAR_003941 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003942 commonName VAR_003942
VAR_003942 disease phenotype-associated
VAR_003942 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003943 commonName VAR_003943
VAR_003943 disease phenotype-associated
VAR_003943 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003945 commonName VAR_003945
VAR_003945 disease phenotype-associated
VAR_003945 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003945 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003946 commonName VAR_003946
VAR_003946 disease phenotype-associated
VAR_003946 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003947 commonName VAR_003947
VAR_003947 disease phenotype-associated
VAR_003947 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003947 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_003948 commonName VAR_003948
VAR_003948 disease phenotype-associated
VAR_003948 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_003952 commonName VAR_003952
VAR_003952 disease not phenotype-associated
VAR_003955 commonName VAR_003955
VAR_003955 disease not phenotype-associated
VAR_003956 commonName VAR_003956
VAR_003956 disease not phenotype-associated
VAR_003957 commonName VAR_003957
VAR_003957 disease not phenotype-associated
VAR_003960 commonName VAR_003960
VAR_003960 disease not phenotype-associated
VAR_003963 commonName VAR_003963
VAR_003963 disease not phenotype-associated
VAR_003964 commonName VAR_003964
VAR_003964 disease not phenotype-associated
VAR_003969 commonName VAR_003969
VAR_003969 disease not phenotype-associated
VAR_003970 commonName VAR_003970
VAR_003970 disease not phenotype-associated
VAR_003971 commonName VAR_003971
VAR_003971 disease phenotype-associated
VAR_003971 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730]
VAR_003972 commonName VAR_003972
VAR_003973 commonName VAR_003973
VAR_003974 commonName VAR_003974
VAR_003974 disease phenotype-associated
VAR_003974 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730]
VAR_003975 commonName VAR_003975
VAR_003975 disease phenotype-associated
VAR_003975 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730]
VAR_003976 commonName VAR_003976
VAR_003977 commonName VAR_003977
VAR_003977 disease not phenotype-associated
VAR_003978 commonName VAR_003978
VAR_003978 disease not phenotype-associated
VAR_003979 commonName VAR_003979
VAR_003979 disease phenotype-associated
VAR_003979 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_003980 commonName VAR_003980
VAR_003980 disease phenotype-associated
VAR_003980 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_003981 commonName VAR_003981
VAR_003981 disease phenotype-associated
VAR_003981 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_003982 commonName VAR_003982
VAR_003982 disease phenotype-associated
VAR_003982 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_003983 commonName VAR_003983
VAR_003983 disease not phenotype-associated
VAR_003984 commonName VAR_003984
VAR_003984 disease phenotype-associated
VAR_003984 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003985 commonName VAR_003985
VAR_003985 disease phenotype-associated
VAR_003985 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003986 commonName VAR_003986
VAR_003986 disease phenotype-associated
VAR_003986 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003987 commonName VAR_003987
VAR_003987 disease phenotype-associated
VAR_003987 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003988 commonName VAR_003988
VAR_003988 disease phenotype-associated
VAR_003988 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003989 commonName VAR_003989
VAR_003989 disease phenotype-associated
VAR_003989 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003990 commonName VAR_003990
VAR_003990 disease phenotype-associated
VAR_003990 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003991 commonName VAR_003991
VAR_003991 disease phenotype-associated
VAR_003991 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003992 commonName VAR_003992
VAR_003992 disease phenotype-associated
VAR_003992 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_003993 commonName VAR_003993
VAR_003993 disease not phenotype-associated
VAR_003994 commonName VAR_003994
VAR_003994 disease not phenotype-associated
VAR_003995 commonName VAR_003995
VAR_003996 commonName VAR_003996
VAR_003996 disease not phenotype-associated
VAR_003997 commonName VAR_003997
VAR_003998 commonName VAR_003998
VAR_003998 disease phenotype-associated
VAR_003998 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_003999 commonName VAR_003999
VAR_003999 disease phenotype-associated
VAR_003999 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004000 commonName VAR_004000
VAR_004000 disease phenotype-associated
VAR_004000 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004001 commonName VAR_004001
VAR_004001 disease phenotype-associated
VAR_004001 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004002 commonName VAR_004002
VAR_004002 disease phenotype-associated
VAR_004002 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004003 commonName VAR_004003
VAR_004003 disease phenotype-associated
VAR_004003 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004004 commonName VAR_004004
VAR_004004 disease phenotype-associated
VAR_004004 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004005 commonName VAR_004005
VAR_004005 disease phenotype-associated
VAR_004005 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_004006 commonName VAR_004006
VAR_004006 disease phenotype-associated
VAR_004006 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004007 commonName VAR_004007
VAR_004007 disease phenotype-associated
VAR_004007 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004008 commonName VAR_004008
VAR_004008 disease phenotype-associated
VAR_004008 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004009 commonName VAR_004009
VAR_004009 disease phenotype-associated
VAR_004009 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004010 commonName VAR_004010
VAR_004010 disease phenotype-associated
VAR_004010 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004011 commonName VAR_004011
VAR_004011 disease phenotype-associated
VAR_004011 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_004016 commonName VAR_004016
VAR_004017 commonName VAR_004017
VAR_004017 disease not phenotype-associated
VAR_004018 commonName VAR_004018
VAR_004018 disease not phenotype-associated
VAR_004019 commonName VAR_004019
VAR_004019 disease not phenotype-associated
VAR_004020 commonName VAR_004020
VAR_004020 disease not phenotype-associated
VAR_004021 commonName VAR_004021
VAR_004021 disease phenotype-associated
VAR_004021 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
VAR_004022 commonName VAR_004022
VAR_004022 disease phenotype-associated
VAR_004022 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_004022 phenoCommon Mevalonic aciduria (MEVA) [MIM:610377]
VAR_004023 commonName VAR_004023
VAR_004023 disease phenotype-associated
VAR_004023 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_004028 commonName VAR_004028
VAR_004028 disease phenotype-associated
VAR_004028 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004030 commonName VAR_004030
VAR_004030 disease phenotype-associated
VAR_004030 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004031 commonName VAR_004031
VAR_004031 disease phenotype-associated
VAR_004031 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004032 commonName VAR_004032
VAR_004032 disease phenotype-associated
VAR_004032 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004033 commonName VAR_004033
VAR_004033 disease phenotype-associated
VAR_004033 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004035 commonName VAR_004035
VAR_004035 disease phenotype-associated
VAR_004035 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004036 commonName VAR_004036
VAR_004036 disease phenotype-associated
VAR_004036 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004037 commonName VAR_004037
VAR_004037 disease phenotype-associated
VAR_004037 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004038 commonName VAR_004038
VAR_004038 disease phenotype-associated
VAR_004038 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004039 commonName VAR_004039
VAR_004039 disease phenotype-associated
VAR_004039 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004040 commonName VAR_004040
VAR_004040 disease phenotype-associated
VAR_004040 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004041 commonName VAR_004041
VAR_004041 disease phenotype-associated
VAR_004041 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004042 commonName VAR_004042
VAR_004042 disease phenotype-associated
VAR_004042 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004043 commonName VAR_004043
VAR_004043 disease phenotype-associated
VAR_004043 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004044 commonName VAR_004044
VAR_004044 disease phenotype-associated
VAR_004044 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004045 commonName VAR_004045
VAR_004045 disease phenotype-associated
VAR_004045 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004047 commonName VAR_004047
VAR_004047 disease phenotype-associated
VAR_004047 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004048 commonName VAR_004048
VAR_004048 disease phenotype-associated
VAR_004048 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004049 commonName VAR_004049
VAR_004049 disease phenotype-associated
VAR_004049 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004050 commonName VAR_004050
VAR_004050 disease phenotype-associated
VAR_004050 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004051 commonName VAR_004051
VAR_004051 disease phenotype-associated
VAR_004051 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004052 commonName VAR_004052
VAR_004052 disease phenotype-associated
VAR_004052 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004053 commonName VAR_004053
VAR_004053 disease phenotype-associated
VAR_004053 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004054 commonName VAR_004054
VAR_004054 disease phenotype-associated
VAR_004054 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004055 commonName VAR_004055
VAR_004055 disease phenotype-associated
VAR_004055 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004057 commonName VAR_004057
VAR_004057 disease phenotype-associated
VAR_004057 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004058 commonName VAR_004058
VAR_004058 disease phenotype-associated
VAR_004058 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004059 commonName VAR_004059
VAR_004059 disease phenotype-associated
VAR_004059 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004060 commonName VAR_004060
VAR_004060 disease phenotype-associated
VAR_004060 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004061 commonName VAR_004061
VAR_004061 disease phenotype-associated
VAR_004061 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004062 commonName VAR_004062
VAR_004062 disease phenotype-associated
VAR_004062 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004063 commonName VAR_004063
VAR_004063 disease phenotype-associated
VAR_004063 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004064 commonName VAR_004064
VAR_004064 disease phenotype-associated
VAR_004064 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004065 commonName VAR_004065
VAR_004065 disease phenotype-associated
VAR_004065 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004066 commonName VAR_004066
VAR_004066 disease phenotype-associated
VAR_004066 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004067 commonName VAR_004067
VAR_004067 disease phenotype-associated
VAR_004067 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004068 commonName VAR_004068
VAR_004068 disease phenotype-associated
VAR_004068 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004069 commonName VAR_004069
VAR_004069 disease phenotype-associated
VAR_004069 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004070 commonName VAR_004070
VAR_004070 disease phenotype-associated
VAR_004070 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004071 commonName VAR_004071
VAR_004071 disease phenotype-associated
VAR_004071 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004072 commonName VAR_004072
VAR_004072 disease phenotype-associated
VAR_004072 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004073 commonName VAR_004073
VAR_004073 disease phenotype-associated
VAR_004073 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004074 commonName VAR_004074
VAR_004074 disease phenotype-associated
VAR_004074 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004075 commonName VAR_004075
VAR_004075 disease phenotype-associated
VAR_004075 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004076 commonName VAR_004076
VAR_004076 disease phenotype-associated
VAR_004076 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_004077 commonName VAR_004077
VAR_004077 disease not phenotype-associated
VAR_004078 commonName VAR_004078
VAR_004078 disease not phenotype-associated
VAR_004079 commonName VAR_004079
VAR_004079 disease phenotype-associated
VAR_004079 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190]
VAR_004080 commonName VAR_004080
VAR_004080 disease phenotype-associated
VAR_004080 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004081 commonName VAR_004081
VAR_004081 disease phenotype-associated
VAR_004081 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004082 commonName VAR_004082
VAR_004082 disease phenotype-associated
VAR_004082 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004083 commonName VAR_004083
VAR_004084 commonName VAR_004084
VAR_004084 disease phenotype-associated
VAR_004084 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004085 commonName VAR_004085
VAR_004085 disease phenotype-associated
VAR_004085 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004086 commonName VAR_004086
VAR_004086 disease phenotype-associated
VAR_004086 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004087 commonName VAR_004087
VAR_004087 disease phenotype-associated
VAR_004087 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_004088 commonName VAR_004088
VAR_004088 disease phenotype-associated
VAR_004088 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_004089 commonName VAR_004089
VAR_004089 disease phenotype-associated
VAR_004089 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_004103 commonName VAR_004103
VAR_004103 disease phenotype-associated
VAR_004103 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_004104 commonName VAR_004104
VAR_004104 disease phenotype-associated
VAR_004104 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_004105 commonName VAR_004105
VAR_004105 disease phenotype-associated
VAR_004105 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_004106 commonName VAR_004106
VAR_004106 disease phenotype-associated
VAR_004106 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_004107 commonName VAR_004107
VAR_004107 disease phenotype-associated
VAR_004107 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_004108 commonName VAR_004108
VAR_004108 disease phenotype-associated
VAR_004108 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_004109 comment Mast cell leukemia
VAR_004109 commonName VAR_004109
VAR_004111 commonName VAR_004111
VAR_004111 disease phenotype-associated
VAR_004111 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004112 commonName VAR_004112
VAR_004112 disease phenotype-associated
VAR_004112 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004113 commonName VAR_004113
VAR_004113 disease phenotype-associated
VAR_004113 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004114 commonName VAR_004114
VAR_004114 disease phenotype-associated
VAR_004114 phenoCommon Apert syndrome (APRS) [MIM:101200]
VAR_004115 commonName VAR_004115
VAR_004115 disease phenotype-associated
VAR_004115 phenoCommon Apert syndrome (APRS) [MIM:101200]
VAR_004115 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004117 commonName VAR_004117
VAR_004117 disease phenotype-associated
VAR_004117 phenoCommon Apert syndrome (APRS) [MIM:101200]
VAR_004118 commonName VAR_004118
VAR_004118 disease phenotype-associated
VAR_004118 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004120 commonName VAR_004120
VAR_004120 disease phenotype-associated
VAR_004120 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004121 commonName VAR_004121
VAR_004121 disease phenotype-associated
VAR_004121 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004121 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150]
VAR_004121 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004123 commonName VAR_004123
VAR_004123 disease phenotype-associated
VAR_004123 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004123 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150]
VAR_004124 commonName VAR_004124
VAR_004124 disease phenotype-associated
VAR_004124 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004125 commonName VAR_004125
VAR_004125 disease phenotype-associated
VAR_004125 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004126 commonName VAR_004126
VAR_004126 disease phenotype-associated
VAR_004126 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004127 commonName VAR_004127
VAR_004127 disease phenotype-associated
VAR_004127 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004128 commonName VAR_004128
VAR_004129 commonName VAR_004129
VAR_004129 disease phenotype-associated
VAR_004129 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004130 commonName VAR_004130
VAR_004130 disease phenotype-associated
VAR_004130 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004131 commonName VAR_004131
VAR_004131 disease phenotype-associated
VAR_004131 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004133 commonName VAR_004133
VAR_004133 disease phenotype-associated
VAR_004133 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004134 commonName VAR_004134
VAR_004134 disease phenotype-associated
VAR_004134 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004135 commonName VAR_004135
VAR_004135 disease phenotype-associated
VAR_004135 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004135 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004136 commonName VAR_004136
VAR_004136 disease phenotype-associated
VAR_004136 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004137 commonName VAR_004137
VAR_004137 disease phenotype-associated
VAR_004137 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
VAR_004137 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004137 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150]
VAR_004137 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004138 commonName VAR_004138
VAR_004138 disease phenotype-associated
VAR_004138 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
VAR_004138 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004138 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150]
VAR_004138 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004139 commonName VAR_004139
VAR_004139 disease phenotype-associated
VAR_004139 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004139 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004140 commonName VAR_004140
VAR_004140 disease phenotype-associated
VAR_004140 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004140 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150]
VAR_004141 commonName VAR_004141
VAR_004141 disease phenotype-associated
VAR_004141 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004141 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004142 commonName VAR_004142
VAR_004142 disease phenotype-associated
VAR_004142 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004143 commonName VAR_004143
VAR_004143 disease phenotype-associated
VAR_004143 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
VAR_004143 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004143 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004144 commonName VAR_004144
VAR_004144 disease phenotype-associated
VAR_004144 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004146 commonName VAR_004146
VAR_004146 disease phenotype-associated
VAR_004146 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004146 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_004147 commonName VAR_004147
VAR_004147 disease phenotype-associated
VAR_004147 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_004148 commonName VAR_004148
VAR_004148 disease phenotype-associated
VAR_004148 phenoCommon Bladder cancer (BLC) [MIM:109800]
VAR_004148 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
VAR_004148 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004148 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004149 commonName VAR_004149
VAR_004149 disease phenotype-associated
VAR_004149 phenoCommon Bladder cancer (BLC) [MIM:109800]
VAR_004149 phenoCommon Cervical cancer (CERCA) [MIM:603956]
VAR_004149 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004149 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004150 commonName VAR_004150
VAR_004150 disease phenotype-associated
VAR_004150 phenoCommon Muenke syndrome (MNKS) [MIM:602849]
VAR_004151 commonName VAR_004151
VAR_004151 disease phenotype-associated
VAR_004151 phenoCommon Bladder cancer (BLC) [MIM:109800]
VAR_004151 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
VAR_004151 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004151 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004152 commonName VAR_004152
VAR_004152 disease phenotype-associated
VAR_004152 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004152 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004153 commonName VAR_004153
VAR_004153 disease phenotype-associated
VAR_004153 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004153 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004154 commonName VAR_004154
VAR_004154 disease phenotype-associated
VAR_004154 phenoCommon Achondroplasia (ACH) [MIM:100800]
VAR_004155 commonName VAR_004155
VAR_004155 disease phenotype-associated
VAR_004155 phenoCommon Achondroplasia (ACH) [MIM:100800]
VAR_004155 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
VAR_004156 commonName VAR_004156
VAR_004156 disease phenotype-associated
VAR_004156 phenoCommon Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]
VAR_004157 commonName VAR_004157
VAR_004157 disease phenotype-associated
VAR_004157 phenoCommon Hypochondroplasia (HCH) [MIM:146000]
VAR_004158 commonName VAR_004158
VAR_004158 disease phenotype-associated
VAR_004158 phenoCommon Hypochondroplasia (HCH) [MIM:146000]
VAR_004159 commonName VAR_004159
VAR_004159 disease phenotype-associated
VAR_004159 phenoCommon Hypochondroplasia (HCH) [MIM:146000]
VAR_004160 commonName VAR_004160
VAR_004160 disease phenotype-associated
VAR_004160 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004160 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300]
VAR_004160 phenoCommon Thanatophoric dysplasia type 2 (TD2) [MIM:187601]
VAR_004161 commonName VAR_004161
VAR_004161 disease phenotype-associated
VAR_004161 phenoCommon Achondroplasia (ACH) [MIM:100800]
VAR_004161 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_004161 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
VAR_004163 commonName VAR_004163
VAR_004163 disease phenotype-associated
VAR_004163 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_004164 commonName VAR_004164
VAR_004164 disease phenotype-associated
VAR_004164 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_004165 commonName VAR_004165
VAR_004165 disease not phenotype-associated
VAR_004166 commonName VAR_004166
VAR_004166 disease not phenotype-associated
VAR_004167 commonName VAR_004167
VAR_004167 disease not phenotype-associated
VAR_004168 commonName VAR_004168
VAR_004168 disease not phenotype-associated
VAR_004169 commonName VAR_004169
VAR_004169 disease not phenotype-associated
VAR_004170 commonName VAR_004170
VAR_004170 disease phenotype-associated
VAR_004170 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_004171 commonName VAR_004171
VAR_004171 disease phenotype-associated
VAR_004171 phenoCommon Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]
VAR_004172 commonName VAR_004172
VAR_004172 disease phenotype-associated
VAR_004172 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
VAR_004173 commonName VAR_004173
VAR_004174 commonName VAR_004174
VAR_004175 commonName VAR_004175
VAR_004176 commonName VAR_004176
VAR_004177 commonName VAR_004177
VAR_004178 commonName VAR_004178
VAR_004179 commonName VAR_004179
VAR_004180 commonName VAR_004180
VAR_004180 disease not phenotype-associated
VAR_004181 commonName VAR_004181
VAR_004181 disease not phenotype-associated
VAR_004182 commonName VAR_004182
VAR_004182 disease not phenotype-associated
VAR_004183 commonName VAR_004183
VAR_004183 disease not phenotype-associated
VAR_004184 commonName VAR_004184
VAR_004184 disease not phenotype-associated
VAR_004189 commonName VAR_004189
VAR_004189 disease not phenotype-associated
VAR_004190 commonName VAR_004190
VAR_004190 disease not phenotype-associated
VAR_004191 commonName VAR_004191
VAR_004191 disease not phenotype-associated
VAR_004197 commonName VAR_004197
VAR_004197 disease not phenotype-associated
VAR_004198 commonName VAR_004198
VAR_004198 disease phenotype-associated
VAR_004198 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004199 commonName VAR_004199
VAR_004199 disease phenotype-associated
VAR_004199 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004200 commonName VAR_004200
VAR_004200 disease phenotype-associated
VAR_004200 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004201 commonName VAR_004201
VAR_004201 disease phenotype-associated
VAR_004201 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004202 commonName VAR_004202
VAR_004202 disease phenotype-associated
VAR_004202 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004203 commonName VAR_004203
VAR_004203 disease phenotype-associated
VAR_004203 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004204 commonName VAR_004204
VAR_004204 disease phenotype-associated
VAR_004204 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004205 commonName VAR_004205
VAR_004205 disease phenotype-associated
VAR_004205 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_004206 commonName VAR_004206
VAR_004206 disease not phenotype-associated
VAR_004208 commonName VAR_004208
VAR_004208 disease not phenotype-associated
VAR_004209 commonName VAR_004209
VAR_004209 disease phenotype-associated
VAR_004209 phenoCommon Hepatic lipase deficiency (HL deficiency) [MIM:614025]
VAR_004210 commonName VAR_004210
VAR_004210 disease phenotype-associated
VAR_004210 phenoCommon Hepatic lipase deficiency (HL deficiency) [MIM:614025]
VAR_004211 commonName VAR_004211
VAR_004211 disease phenotype-associated
VAR_004211 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004212 commonName VAR_004212
VAR_004212 disease phenotype-associated
VAR_004212 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004213 commonName VAR_004213
VAR_004213 disease phenotype-associated
VAR_004213 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004214 commonName VAR_004214
VAR_004214 disease phenotype-associated
VAR_004214 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004215 commonName VAR_004215
VAR_004215 disease phenotype-associated
VAR_004215 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004216 commonName VAR_004216
VAR_004216 disease phenotype-associated
VAR_004216 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004217 commonName VAR_004217
VAR_004217 disease phenotype-associated
VAR_004217 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004218 commonName VAR_004218
VAR_004218 disease phenotype-associated
VAR_004218 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004219 commonName VAR_004219
VAR_004219 disease phenotype-associated
VAR_004219 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004220 commonName VAR_004220
VAR_004220 disease phenotype-associated
VAR_004220 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004221 commonName VAR_004221
VAR_004221 disease phenotype-associated
VAR_004221 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004222 commonName VAR_004222
VAR_004222 disease phenotype-associated
VAR_004222 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004223 commonName VAR_004223
VAR_004223 disease phenotype-associated
VAR_004223 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004224 commonName VAR_004224
VAR_004224 disease phenotype-associated
VAR_004224 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004225 commonName VAR_004225
VAR_004225 disease phenotype-associated
VAR_004225 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004226 commonName VAR_004226
VAR_004226 disease phenotype-associated
VAR_004226 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004227 commonName VAR_004227
VAR_004227 disease phenotype-associated
VAR_004227 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004228 commonName VAR_004228
VAR_004228 disease phenotype-associated
VAR_004228 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004229 commonName VAR_004229
VAR_004229 disease phenotype-associated
VAR_004229 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004230 commonName VAR_004230
VAR_004230 disease phenotype-associated
VAR_004230 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004231 commonName VAR_004231
VAR_004231 disease phenotype-associated
VAR_004231 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004232 commonName VAR_004232
VAR_004232 disease phenotype-associated
VAR_004232 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004233 commonName VAR_004233
VAR_004233 disease phenotype-associated
VAR_004233 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004234 commonName VAR_004234
VAR_004234 disease phenotype-associated
VAR_004234 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004235 commonName VAR_004235
VAR_004235 disease phenotype-associated
VAR_004235 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004236 commonName VAR_004236
VAR_004236 disease phenotype-associated
VAR_004236 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004237 commonName VAR_004237
VAR_004237 disease phenotype-associated
VAR_004237 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004238 commonName VAR_004238
VAR_004238 disease phenotype-associated
VAR_004238 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004239 commonName VAR_004239
VAR_004239 disease phenotype-associated
VAR_004239 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004240 commonName VAR_004240
VAR_004240 disease phenotype-associated
VAR_004240 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004241 commonName VAR_004241
VAR_004241 disease phenotype-associated
VAR_004241 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004242 commonName VAR_004242
VAR_004242 disease phenotype-associated
VAR_004242 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004243 commonName VAR_004243
VAR_004243 disease phenotype-associated
VAR_004243 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004245 commonName VAR_004245
VAR_004245 disease phenotype-associated
VAR_004245 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004246 commonName VAR_004246
VAR_004246 disease phenotype-associated
VAR_004246 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_004247 commonName VAR_004247
VAR_004247 disease not phenotype-associated
VAR_004248 commonName VAR_004248
VAR_004248 disease phenotype-associated
VAR_004248 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000]
VAR_004249 commonName VAR_004249
VAR_004249 disease phenotype-associated
VAR_004249 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000]
VAR_004250 commonName VAR_004250
VAR_004250 disease phenotype-associated
VAR_004250 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000]
VAR_004250 phenoCommon Wolman disease (WOD) [MIM:278000]
VAR_004252 commonName VAR_004252
VAR_004252 disease phenotype-associated
VAR_004252 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_004253 commonName VAR_004253
VAR_004253 disease phenotype-associated
VAR_004253 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004254 commonName VAR_004254
VAR_004254 disease phenotype-associated
VAR_004254 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004255 commonName VAR_004255
VAR_004255 disease phenotype-associated
VAR_004255 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004256 commonName VAR_004256
VAR_004256 disease phenotype-associated
VAR_004256 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_004257 commonName VAR_004257
VAR_004257 disease phenotype-associated
VAR_004257 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004258 commonName VAR_004258
VAR_004258 disease phenotype-associated
VAR_004258 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004259 commonName VAR_004259
VAR_004259 disease phenotype-associated
VAR_004259 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004260 commonName VAR_004260
VAR_004260 disease phenotype-associated
VAR_004260 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004261 commonName VAR_004261
VAR_004261 disease not phenotype-associated
VAR_004262 commonName VAR_004262
VAR_004262 disease phenotype-associated
VAR_004262 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004263 commonName VAR_004263
VAR_004263 disease phenotype-associated
VAR_004263 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004264 commonName VAR_004264
VAR_004264 disease phenotype-associated
VAR_004264 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_004265 commonName VAR_004265
VAR_004265 disease phenotype-associated
VAR_004265 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004266 commonName VAR_004266
VAR_004266 disease phenotype-associated
VAR_004266 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_004267 commonName VAR_004267
VAR_004267 disease phenotype-associated
VAR_004267 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_004268 commonName VAR_004268
VAR_004268 disease phenotype-associated
VAR_004268 phenoCommon Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]
VAR_004273 commonName VAR_004273
VAR_004273 disease not phenotype-associated
VAR_004279 commonName VAR_004279
VAR_004279 disease not phenotype-associated
VAR_004280 commonName VAR_004280
VAR_004280 disease phenotype-associated
VAR_004280 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200]
VAR_004281 commonName VAR_004281
VAR_004281 disease phenotype-associated
VAR_004281 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200]
VAR_004282 commonName VAR_004282
VAR_004282 disease not phenotype-associated
VAR_004283 commonName VAR_004283
VAR_004283 disease not phenotype-associated
VAR_004284 commonName VAR_004284
VAR_004284 disease not phenotype-associated
VAR_004285 commonName VAR_004285
VAR_004285 disease not phenotype-associated
VAR_004286 commonName VAR_004286
VAR_004286 disease not phenotype-associated
VAR_004287 commonName VAR_004287
VAR_004287 disease not phenotype-associated
VAR_004288 commonName VAR_004288
VAR_004288 disease phenotype-associated
VAR_004288 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004289 commonName VAR_004289
VAR_004289 disease phenotype-associated
VAR_004289 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004290 commonName VAR_004290
VAR_004290 disease phenotype-associated
VAR_004290 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004291 commonName VAR_004291
VAR_004291 disease phenotype-associated
VAR_004291 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004292 commonName VAR_004292
VAR_004292 disease phenotype-associated
VAR_004292 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004293 commonName VAR_004293
VAR_004293 disease phenotype-associated
VAR_004293 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004294 commonName VAR_004294
VAR_004294 disease phenotype-associated
VAR_004294 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004295 commonName VAR_004295
VAR_004295 disease phenotype-associated
VAR_004295 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004296 commonName VAR_004296
VAR_004296 disease phenotype-associated
VAR_004296 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004297 commonName VAR_004297
VAR_004297 disease phenotype-associated
VAR_004297 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004298 commonName VAR_004298
VAR_004298 disease phenotype-associated
VAR_004298 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004299 commonName VAR_004299
VAR_004299 disease not phenotype-associated
VAR_004300 commonName VAR_004300
VAR_004300 disease not phenotype-associated
VAR_004301 commonName VAR_004301
VAR_004301 disease phenotype-associated
VAR_004301 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004302 commonName VAR_004302
VAR_004302 disease phenotype-associated
VAR_004302 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004303 commonName VAR_004303
VAR_004303 disease phenotype-associated
VAR_004303 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004304 commonName VAR_004304
VAR_004304 disease phenotype-associated
VAR_004304 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004305 commonName VAR_004305
VAR_004305 disease phenotype-associated
VAR_004305 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004306 commonName VAR_004306
VAR_004306 disease phenotype-associated
VAR_004306 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004307 commonName VAR_004307
VAR_004307 disease phenotype-associated
VAR_004307 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004308 commonName VAR_004308
VAR_004308 disease phenotype-associated
VAR_004308 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004309 commonName VAR_004309
VAR_004309 disease not phenotype-associated
VAR_004310 commonName VAR_004310
VAR_004310 disease phenotype-associated
VAR_004310 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004311 commonName VAR_004311
VAR_004311 disease not phenotype-associated
VAR_004312 commonName VAR_004312
VAR_004312 disease phenotype-associated
VAR_004312 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004313 commonName VAR_004313
VAR_004313 disease not phenotype-associated
VAR_004314 commonName VAR_004314
VAR_004314 disease not phenotype-associated
VAR_004317 commonName VAR_004317
VAR_004317 disease not phenotype-associated
VAR_004318 commonName VAR_004318
VAR_004318 disease phenotype-associated
VAR_004318 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_004319 commonName VAR_004319
VAR_004319 disease phenotype-associated
VAR_004319 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004320 commonName VAR_004320
VAR_004320 disease phenotype-associated
VAR_004320 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004321 commonName VAR_004321
VAR_004321 disease phenotype-associated
VAR_004321 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004322 commonName VAR_004322
VAR_004322 disease phenotype-associated
VAR_004322 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004323 commonName VAR_004323
VAR_004323 disease phenotype-associated
VAR_004323 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004324 commonName VAR_004324
VAR_004324 disease phenotype-associated
VAR_004324 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004325 commonName VAR_004325
VAR_004325 disease phenotype-associated
VAR_004325 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_004326 commonName VAR_004326
VAR_004326 disease not phenotype-associated
VAR_004327 commonName VAR_004327
VAR_004327 disease not phenotype-associated
VAR_004396 commonName VAR_004396
VAR_004396 disease not phenotype-associated
VAR_004397 commonName VAR_004397
VAR_004397 disease phenotype-associated
VAR_004397 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_004398 commonName VAR_004398
VAR_004398 disease phenotype-associated
VAR_004398 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_004400 commonName VAR_004400
VAR_004400 disease not phenotype-associated
VAR_004401 commonName VAR_004401
VAR_004401 disease phenotype-associated
VAR_004401 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_004402 commonName VAR_004402
VAR_004402 disease phenotype-associated
VAR_004402 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_004403 commonName VAR_004403
VAR_004403 disease phenotype-associated
VAR_004403 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_004404 commonName VAR_004404
VAR_004404 disease phenotype-associated
VAR_004404 phenoCommon Prolidase deficiency (PD) [MIM:170100]
VAR_004405 commonName VAR_004405
VAR_004405 disease phenotype-associated
VAR_004405 phenoCommon Prolidase deficiency (PD) [MIM:170100]
VAR_004407 commonName VAR_004407
VAR_004407 disease not phenotype-associated
VAR_004408 commonName VAR_004408
VAR_004408 disease phenotype-associated
VAR_004408 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_004409 commonName VAR_004409
VAR_004409 disease phenotype-associated
VAR_004409 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004410 commonName VAR_004410
VAR_004410 disease phenotype-associated
VAR_004410 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004411 commonName VAR_004411
VAR_004411 disease phenotype-associated
VAR_004411 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004412 commonName VAR_004412
VAR_004412 disease phenotype-associated
VAR_004412 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004413 commonName VAR_004413
VAR_004413 disease phenotype-associated
VAR_004413 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004414 commonName VAR_004414
VAR_004414 disease phenotype-associated
VAR_004414 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004416 commonName VAR_004416
VAR_004416 disease phenotype-associated
VAR_004416 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004417 commonName VAR_004417
VAR_004417 disease phenotype-associated
VAR_004417 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004418 commonName VAR_004418
VAR_004418 disease phenotype-associated
VAR_004418 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004419 commonName VAR_004419
VAR_004419 disease not phenotype-associated
VAR_004420 commonName VAR_004420
VAR_004420 disease phenotype-associated
VAR_004420 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004421 commonName VAR_004421
VAR_004421 disease phenotype-associated
VAR_004421 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004422 commonName VAR_004422
VAR_004422 disease phenotype-associated
VAR_004422 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004423 commonName VAR_004423
VAR_004423 disease phenotype-associated
VAR_004423 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004424 commonName VAR_004424
VAR_004424 disease phenotype-associated
VAR_004424 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004425 commonName VAR_004425
VAR_004425 disease phenotype-associated
VAR_004425 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004426 commonName VAR_004426
VAR_004426 disease not phenotype-associated
VAR_004427 commonName VAR_004427
VAR_004427 disease phenotype-associated
VAR_004427 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004429 commonName VAR_004429
VAR_004429 disease phenotype-associated
VAR_004429 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004430 commonName VAR_004430
VAR_004430 disease phenotype-associated
VAR_004430 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004431 commonName VAR_004431
VAR_004431 disease phenotype-associated
VAR_004431 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004432 commonName VAR_004432
VAR_004432 disease phenotype-associated
VAR_004432 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_004433 commonName VAR_004433
VAR_004433 disease phenotype-associated
VAR_004433 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004434 commonName VAR_004434
VAR_004434 disease phenotype-associated
VAR_004434 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004436 commonName VAR_004436
VAR_004436 disease phenotype-associated
VAR_004436 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004437 commonName VAR_004437
VAR_004437 disease phenotype-associated
VAR_004437 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004438 commonName VAR_004438
VAR_004438 disease phenotype-associated
VAR_004438 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004439 commonName VAR_004439
VAR_004439 disease phenotype-associated
VAR_004439 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004440 commonName VAR_004440
VAR_004440 disease phenotype-associated
VAR_004440 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004441 commonName VAR_004441
VAR_004441 disease phenotype-associated
VAR_004441 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004442 commonName VAR_004442
VAR_004442 disease phenotype-associated
VAR_004442 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004443 commonName VAR_004443
VAR_004443 disease not phenotype-associated
VAR_004444 commonName VAR_004444
VAR_004444 disease phenotype-associated
VAR_004444 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004445 commonName VAR_004445
VAR_004445 disease phenotype-associated
VAR_004445 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004446 commonName VAR_004446
VAR_004446 disease phenotype-associated
VAR_004446 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004447 commonName VAR_004447
VAR_004447 disease phenotype-associated
VAR_004447 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004448 commonName VAR_004448
VAR_004448 disease phenotype-associated
VAR_004448 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004449 commonName VAR_004449
VAR_004450 commonName VAR_004450
VAR_004450 disease not phenotype-associated
VAR_004451 commonName VAR_004451
VAR_004451 disease phenotype-associated
VAR_004451 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004453 commonName VAR_004453
VAR_004453 disease phenotype-associated
VAR_004453 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004454 commonName VAR_004454
VAR_004455 commonName VAR_004455
VAR_004455 disease phenotype-associated
VAR_004455 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004456 commonName VAR_004456
VAR_004456 disease phenotype-associated
VAR_004456 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004457 commonName VAR_004457
VAR_004457 disease phenotype-associated
VAR_004457 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004458 commonName VAR_004458
VAR_004458 disease phenotype-associated
VAR_004458 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004459 commonName VAR_004459
VAR_004459 disease phenotype-associated
VAR_004459 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004460 commonName VAR_004460
VAR_004460 disease phenotype-associated
VAR_004460 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004462 commonName VAR_004462
VAR_004462 disease not phenotype-associated
VAR_004463 commonName VAR_004463
VAR_004463 disease phenotype-associated
VAR_004463 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004465 commonName VAR_004465
VAR_004465 disease phenotype-associated
VAR_004465 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_004466 commonName VAR_004466
VAR_004469 commonName VAR_004469
VAR_004469 disease not phenotype-associated
VAR_004470 commonName VAR_004470
VAR_004470 disease phenotype-associated
VAR_004470 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004471 commonName VAR_004471
VAR_004471 disease not phenotype-associated
VAR_004472 commonName VAR_004472
VAR_004472 disease phenotype-associated
VAR_004472 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004473 commonName VAR_004473
VAR_004473 disease phenotype-associated
VAR_004473 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004474 commonName VAR_004474
VAR_004474 disease phenotype-associated
VAR_004474 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004476 commonName VAR_004476
VAR_004476 disease phenotype-associated
VAR_004476 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004477 commonName VAR_004477
VAR_004477 disease not phenotype-associated
VAR_004478 commonName VAR_004478
VAR_004479 commonName VAR_004479
VAR_004479 disease phenotype-associated
VAR_004479 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004480 commonName VAR_004480
VAR_004480 disease phenotype-associated
VAR_004480 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004482 commonName VAR_004482
VAR_004482 disease phenotype-associated
VAR_004482 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004483 commonName VAR_004483
VAR_004483 disease phenotype-associated
VAR_004483 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004484 commonName VAR_004484
VAR_004484 disease not phenotype-associated
VAR_004485 commonName VAR_004485
VAR_004485 disease phenotype-associated
VAR_004485 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004486 commonName VAR_004486
VAR_004486 disease phenotype-associated
VAR_004486 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_004490 commonName VAR_004490
VAR_004490 disease not phenotype-associated
VAR_004493 commonName VAR_004493
VAR_004493 disease phenotype-associated
VAR_004493 phenoCommon Centronuclear myopathy type 3 (CNM3) [MIM:614408]
VAR_004494 commonName VAR_004494
VAR_004494 disease phenotype-associated
VAR_004494 phenoCommon Centronuclear myopathy type 3 (CNM3) [MIM:614408]
VAR_004495 commonName VAR_004495
VAR_004495 disease phenotype-associated
VAR_004495 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400]
VAR_004496 commonName VAR_004496
VAR_004496 disease phenotype-associated
VAR_004496 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400]
VAR_004499 commonName VAR_004499
VAR_004499 disease phenotype-associated
VAR_004499 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_004500 commonName VAR_004500
VAR_004500 disease phenotype-associated
VAR_004500 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004501 commonName VAR_004501
VAR_004501 disease phenotype-associated
VAR_004501 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004502 commonName VAR_004502
VAR_004502 disease phenotype-associated
VAR_004502 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004503 commonName VAR_004503
VAR_004503 disease phenotype-associated
VAR_004503 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004503 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_004504 commonName VAR_004504
VAR_004504 disease phenotype-associated
VAR_004504 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004505 commonName VAR_004505
VAR_004505 disease phenotype-associated
VAR_004505 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004506 commonName VAR_004506
VAR_004506 disease phenotype-associated
VAR_004506 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004508 commonName VAR_004508
VAR_004508 disease phenotype-associated
VAR_004508 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004509 commonName VAR_004509
VAR_004509 disease phenotype-associated
VAR_004509 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004511 commonName VAR_004511
VAR_004511 disease phenotype-associated
VAR_004511 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004512 commonName VAR_004512
VAR_004512 disease phenotype-associated
VAR_004512 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004513 commonName VAR_004513
VAR_004513 disease phenotype-associated
VAR_004513 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004514 commonName VAR_004514
VAR_004514 disease phenotype-associated
VAR_004514 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004514 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004515 commonName VAR_004515
VAR_004515 disease phenotype-associated
VAR_004515 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004516 commonName VAR_004516
VAR_004516 disease phenotype-associated
VAR_004516 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004517 commonName VAR_004517
VAR_004517 disease phenotype-associated
VAR_004517 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004518 commonName VAR_004518
VAR_004518 disease phenotype-associated
VAR_004518 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004519 commonName VAR_004519
VAR_004519 disease phenotype-associated
VAR_004519 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004520 commonName VAR_004520
VAR_004520 disease phenotype-associated
VAR_004520 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004521 commonName VAR_004521
VAR_004521 disease phenotype-associated
VAR_004521 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004522 commonName VAR_004522
VAR_004522 disease phenotype-associated
VAR_004522 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004523 commonName VAR_004523
VAR_004523 disease phenotype-associated
VAR_004523 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004524 commonName VAR_004524
VAR_004524 disease phenotype-associated
VAR_004524 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004525 commonName VAR_004525
VAR_004525 disease phenotype-associated
VAR_004525 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004526 commonName VAR_004526
VAR_004526 disease phenotype-associated
VAR_004526 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004528 commonName VAR_004528
VAR_004528 disease phenotype-associated
VAR_004528 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004529 commonName VAR_004529
VAR_004529 disease phenotype-associated
VAR_004529 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004529 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]
VAR_004531 commonName VAR_004531
VAR_004531 disease phenotype-associated
VAR_004531 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004532 commonName VAR_004532
VAR_004532 disease phenotype-associated
VAR_004532 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004533 commonName VAR_004533
VAR_004533 disease phenotype-associated
VAR_004533 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004534 commonName VAR_004534
VAR_004534 disease phenotype-associated
VAR_004534 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004534 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004535 commonName VAR_004535
VAR_004535 disease phenotype-associated
VAR_004535 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004536 commonName VAR_004536
VAR_004536 disease phenotype-associated
VAR_004536 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004537 commonName VAR_004537
VAR_004537 disease phenotype-associated
VAR_004537 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004538 commonName VAR_004538
VAR_004538 disease phenotype-associated
VAR_004538 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004538 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004539 commonName VAR_004539
VAR_004539 disease phenotype-associated
VAR_004539 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004540 commonName VAR_004540
VAR_004540 disease phenotype-associated
VAR_004540 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004541 commonName VAR_004541
VAR_004541 disease phenotype-associated
VAR_004541 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004542 commonName VAR_004542
VAR_004542 disease phenotype-associated
VAR_004542 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004543 commonName VAR_004543
VAR_004543 disease phenotype-associated
VAR_004543 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_004543 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004544 commonName VAR_004544
VAR_004544 disease phenotype-associated
VAR_004544 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_004545 commonName VAR_004545
VAR_004545 disease not phenotype-associated
VAR_004546 commonName VAR_004546
VAR_004546 disease phenotype-associated
VAR_004546 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_004547 commonName VAR_004547
VAR_004547 disease phenotype-associated
VAR_004547 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_004548 commonName VAR_004548
VAR_004548 disease phenotype-associated
VAR_004548 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_004551 commonName VAR_004551
VAR_004551 disease phenotype-associated
VAR_004551 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]
VAR_004552 commonName VAR_004552
VAR_004552 disease phenotype-associated
VAR_004552 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_004553 commonName VAR_004553
VAR_004553 disease phenotype-associated
VAR_004553 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_004566 commonName VAR_004566
VAR_004566 disease phenotype-associated
VAR_004566 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004567 commonName VAR_004567
VAR_004567 disease phenotype-associated
VAR_004567 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004568 commonName VAR_004568
VAR_004568 disease phenotype-associated
VAR_004568 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004569 commonName VAR_004569
VAR_004569 disease phenotype-associated
VAR_004569 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004570 commonName VAR_004570
VAR_004570 disease phenotype-associated
VAR_004570 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004571 commonName VAR_004571
VAR_004571 disease phenotype-associated
VAR_004571 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004572 commonName VAR_004572
VAR_004572 disease phenotype-associated
VAR_004572 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004573 commonName VAR_004573
VAR_004573 disease phenotype-associated
VAR_004573 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004574 commonName VAR_004574
VAR_004574 disease phenotype-associated
VAR_004574 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004575 commonName VAR_004575
VAR_004575 disease phenotype-associated
VAR_004575 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004576 commonName VAR_004576
VAR_004576 disease phenotype-associated
VAR_004576 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004577 commonName VAR_004577
VAR_004577 disease phenotype-associated
VAR_004577 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004578 commonName VAR_004578
VAR_004578 disease phenotype-associated
VAR_004578 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004579 commonName VAR_004579
VAR_004579 disease phenotype-associated
VAR_004579 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004580 commonName VAR_004580
VAR_004580 disease phenotype-associated
VAR_004580 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004581 commonName VAR_004581
VAR_004581 disease phenotype-associated
VAR_004581 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004582 commonName VAR_004582
VAR_004582 disease phenotype-associated
VAR_004582 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004583 commonName VAR_004583
VAR_004583 disease phenotype-associated
VAR_004583 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004584 commonName VAR_004584
VAR_004584 disease phenotype-associated
VAR_004584 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004585 commonName VAR_004585
VAR_004585 disease phenotype-associated
VAR_004585 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004586 commonName VAR_004586
VAR_004586 disease phenotype-associated
VAR_004586 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004587 commonName VAR_004587
VAR_004587 disease phenotype-associated
VAR_004587 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004588 commonName VAR_004588
VAR_004588 disease phenotype-associated
VAR_004588 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004589 commonName VAR_004589
VAR_004589 disease phenotype-associated
VAR_004589 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004590 commonName VAR_004590
VAR_004590 disease phenotype-associated
VAR_004590 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004591 commonName VAR_004591
VAR_004591 disease phenotype-associated
VAR_004591 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004592 commonName VAR_004592
VAR_004592 disease phenotype-associated
VAR_004592 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004593 commonName VAR_004593
VAR_004593 disease phenotype-associated
VAR_004593 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004594 commonName VAR_004594
VAR_004594 disease phenotype-associated
VAR_004594 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004595 commonName VAR_004595
VAR_004595 disease phenotype-associated
VAR_004595 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004597 commonName VAR_004597
VAR_004597 disease phenotype-associated
VAR_004597 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004598 commonName VAR_004598
VAR_004598 disease phenotype-associated
VAR_004598 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_004599 commonName VAR_004599
VAR_004599 disease phenotype-associated
VAR_004599 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]
VAR_004600 commonName VAR_004600
VAR_004600 disease phenotype-associated
VAR_004600 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]
VAR_004601 commonName VAR_004601
VAR_004601 disease phenotype-associated
VAR_004601 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]
VAR_004602 commonName VAR_004602
VAR_004602 disease phenotype-associated
VAR_004602 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]
VAR_004603 commonName VAR_004603
VAR_004603 disease phenotype-associated
VAR_004603 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]
VAR_004604 commonName VAR_004604
VAR_004604 disease phenotype-associated
VAR_004604 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]
VAR_004605 commonName VAR_004605
VAR_004605 disease phenotype-associated
VAR_004605 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758]
VAR_004606 commonName VAR_004606
VAR_004606 disease not phenotype-associated
VAR_004607 commonName VAR_004607
VAR_004607 disease not phenotype-associated
VAR_004613 commonName VAR_004613
VAR_004613 disease not phenotype-associated
VAR_004614 commonName VAR_004614
VAR_004614 disease phenotype-associated
VAR_004614 phenoCommon Primary bile acid malabsorption (PBAM) [MIM:613291]
VAR_004615 commonName VAR_004615
VAR_004615 disease phenotype-associated
VAR_004615 phenoCommon Primary bile acid malabsorption (PBAM) [MIM:613291]
VAR_004616 commonName VAR_004616
VAR_004616 disease not phenotype-associated
VAR_004619 commonName VAR_004619
VAR_004619 disease phenotype-associated
VAR_004619 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_004620 commonName VAR_004620
VAR_004620 disease phenotype-associated
VAR_004620 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_004621 commonName VAR_004621
VAR_004621 disease phenotype-associated
VAR_004621 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_004622 commonName VAR_004622
VAR_004622 disease phenotype-associated
VAR_004622 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_004624 commonName VAR_004624
VAR_004624 disease not phenotype-associated
VAR_004625 commonName VAR_004625
VAR_004626 commonName VAR_004626
VAR_004626 disease not phenotype-associated
VAR_004629 commonName VAR_004629
VAR_004629 disease not phenotype-associated
VAR_004630 commonName VAR_004630
VAR_004630 disease not phenotype-associated
VAR_004632 commonName VAR_004632
VAR_004632 disease phenotype-associated
VAR_004632 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004633 commonName VAR_004633
VAR_004633 disease phenotype-associated
VAR_004633 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004634 commonName VAR_004634
VAR_004634 disease phenotype-associated
VAR_004634 phenoCommon Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
VAR_004635 commonName VAR_004635
VAR_004635 disease phenotype-associated
VAR_004635 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004636 commonName VAR_004636
VAR_004636 disease phenotype-associated
VAR_004636 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004637 commonName VAR_004637
VAR_004637 disease phenotype-associated
VAR_004637 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004638 commonName VAR_004638
VAR_004638 disease phenotype-associated
VAR_004638 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004640 commonName VAR_004640
VAR_004640 disease phenotype-associated
VAR_004640 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004641 commonName VAR_004641
VAR_004641 disease phenotype-associated
VAR_004641 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004642 commonName VAR_004642
VAR_004642 disease phenotype-associated
VAR_004642 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004643 commonName VAR_004643
VAR_004643 disease phenotype-associated
VAR_004643 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004644 commonName VAR_004644
VAR_004644 disease phenotype-associated
VAR_004644 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004645 commonName VAR_004645
VAR_004645 disease phenotype-associated
VAR_004645 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004646 commonName VAR_004646
VAR_004646 disease phenotype-associated
VAR_004646 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004647 commonName VAR_004647
VAR_004647 disease phenotype-associated
VAR_004647 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004648 commonName VAR_004648
VAR_004648 disease phenotype-associated
VAR_004648 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004649 commonName VAR_004649
VAR_004649 disease phenotype-associated
VAR_004649 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004650 commonName VAR_004650
VAR_004650 disease phenotype-associated
VAR_004650 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004651 commonName VAR_004651
VAR_004651 disease phenotype-associated
VAR_004651 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004652 commonName VAR_004652
VAR_004652 disease phenotype-associated
VAR_004652 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004653 commonName VAR_004653
VAR_004653 disease phenotype-associated
VAR_004653 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004654 commonName VAR_004654
VAR_004654 disease phenotype-associated
VAR_004654 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004655 commonName VAR_004655
VAR_004655 disease phenotype-associated
VAR_004655 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_004656 commonName VAR_004656
VAR_004656 disease phenotype-associated
VAR_004656 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004657 commonName VAR_004657
VAR_004657 disease phenotype-associated
VAR_004657 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004658 commonName VAR_004658
VAR_004658 disease phenotype-associated
VAR_004658 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004659 commonName VAR_004659
VAR_004659 disease phenotype-associated
VAR_004659 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004660 commonName VAR_004660
VAR_004660 disease phenotype-associated
VAR_004660 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004661 commonName VAR_004661
VAR_004661 disease phenotype-associated
VAR_004661 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004662 commonName VAR_004662
VAR_004662 disease phenotype-associated
VAR_004662 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004663 commonName VAR_004663
VAR_004663 disease phenotype-associated
VAR_004663 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004664 commonName VAR_004664
VAR_004664 disease phenotype-associated
VAR_004664 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004665 commonName VAR_004665
VAR_004665 disease phenotype-associated
VAR_004665 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004666 commonName VAR_004666
VAR_004666 disease phenotype-associated
VAR_004666 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004667 commonName VAR_004667
VAR_004667 disease phenotype-associated
VAR_004667 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]
VAR_004668 commonName VAR_004668
VAR_004668 disease phenotype-associated
VAR_004668 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]
VAR_004669 commonName VAR_004669
VAR_004669 disease not phenotype-associated
VAR_004670 commonName VAR_004670
VAR_004670 disease phenotype-associated
VAR_004670 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]
VAR_004671 commonName VAR_004671
VAR_004671 disease not phenotype-associated
VAR_004672 commonName VAR_004672
VAR_004673 commonName VAR_004673
VAR_004675 commonName VAR_004675
VAR_004675 disease not phenotype-associated
VAR_004737 commonName VAR_004737
VAR_004737 disease phenotype-associated
VAR_004737 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_004738 commonName VAR_004738
VAR_004738 disease phenotype-associated
VAR_004738 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004740 commonName VAR_004740
VAR_004740 disease phenotype-associated
VAR_004740 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004741 commonName VAR_004741
VAR_004741 disease phenotype-associated
VAR_004741 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004742 commonName VAR_004742
VAR_004742 disease phenotype-associated
VAR_004742 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004743 commonName VAR_004743
VAR_004743 disease phenotype-associated
VAR_004743 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004744 commonName VAR_004744
VAR_004744 disease phenotype-associated
VAR_004744 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004745 commonName VAR_004745
VAR_004745 disease phenotype-associated
VAR_004745 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004746 commonName VAR_004746
VAR_004746 disease phenotype-associated
VAR_004746 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_004765 commonName VAR_004765
VAR_004765 disease phenotype-associated
VAR_004765 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004766 commonName VAR_004766
VAR_004766 disease phenotype-associated
VAR_004766 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004767 commonName VAR_004767
VAR_004767 disease phenotype-associated
VAR_004767 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004768 commonName VAR_004768
VAR_004768 disease phenotype-associated
VAR_004768 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004769 commonName VAR_004769
VAR_004769 disease phenotype-associated
VAR_004769 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004770 commonName VAR_004770
VAR_004770 disease phenotype-associated
VAR_004770 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004771 commonName VAR_004771
VAR_004771 disease phenotype-associated
VAR_004771 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004772 commonName VAR_004772
VAR_004772 disease phenotype-associated
VAR_004772 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004773 commonName VAR_004773
VAR_004773 disease phenotype-associated
VAR_004773 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004774 commonName VAR_004774
VAR_004774 disease phenotype-associated
VAR_004774 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004775 commonName VAR_004775
VAR_004775 disease not phenotype-associated
VAR_004776 commonName VAR_004776
VAR_004776 disease phenotype-associated
VAR_004776 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004777 commonName VAR_004777
VAR_004777 disease phenotype-associated
VAR_004777 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004778 commonName VAR_004778
VAR_004778 disease phenotype-associated
VAR_004778 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004779 commonName VAR_004779
VAR_004779 disease phenotype-associated
VAR_004779 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004781 commonName VAR_004781
VAR_004781 disease phenotype-associated
VAR_004781 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004782 commonName VAR_004782
VAR_004782 disease phenotype-associated
VAR_004782 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004783 commonName VAR_004783
VAR_004783 disease phenotype-associated
VAR_004783 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]
VAR_004784 commonName VAR_004784
VAR_004784 disease phenotype-associated
VAR_004784 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]
VAR_004785 commonName VAR_004785
VAR_004785 disease not phenotype-associated
VAR_004786 commonName VAR_004786
VAR_004786 disease phenotype-associated
VAR_004786 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004787 commonName VAR_004787
VAR_004787 disease phenotype-associated
VAR_004787 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004788 commonName VAR_004788
VAR_004788 disease phenotype-associated
VAR_004788 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004789 commonName VAR_004789
VAR_004789 disease phenotype-associated
VAR_004789 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004790 commonName VAR_004790
VAR_004790 disease phenotype-associated
VAR_004790 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004791 commonName VAR_004791
VAR_004791 disease phenotype-associated
VAR_004791 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004792 commonName VAR_004792
VAR_004792 disease phenotype-associated
VAR_004792 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004793 commonName VAR_004793
VAR_004793 disease phenotype-associated
VAR_004793 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004794 commonName VAR_004794
VAR_004794 disease phenotype-associated
VAR_004794 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004795 commonName VAR_004795
VAR_004795 disease phenotype-associated
VAR_004795 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004796 commonName VAR_004796
VAR_004796 disease phenotype-associated
VAR_004796 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004797 commonName VAR_004797
VAR_004797 disease phenotype-associated
VAR_004797 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004798 commonName VAR_004798
VAR_004798 disease phenotype-associated
VAR_004798 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004799 commonName VAR_004799
VAR_004799 disease phenotype-associated
VAR_004799 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004800 commonName VAR_004800
VAR_004800 disease phenotype-associated
VAR_004800 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004801 commonName VAR_004801
VAR_004801 disease phenotype-associated
VAR_004801 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004802 commonName VAR_004802
VAR_004802 disease phenotype-associated
VAR_004802 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004803 commonName VAR_004803
VAR_004803 disease phenotype-associated
VAR_004803 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004804 commonName VAR_004804
VAR_004804 disease phenotype-associated
VAR_004804 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004805 commonName VAR_004805
VAR_004805 disease phenotype-associated
VAR_004805 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004806 commonName VAR_004806
VAR_004806 disease phenotype-associated
VAR_004806 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004807 commonName VAR_004807
VAR_004807 disease phenotype-associated
VAR_004807 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004808 commonName VAR_004808
VAR_004808 disease phenotype-associated
VAR_004808 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004809 commonName VAR_004809
VAR_004809 disease phenotype-associated
VAR_004809 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004810 commonName VAR_004810
VAR_004810 disease phenotype-associated
VAR_004810 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004811 commonName VAR_004811
VAR_004811 disease phenotype-associated
VAR_004811 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004812 commonName VAR_004812
VAR_004812 disease phenotype-associated
VAR_004812 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004813 commonName VAR_004813
VAR_004813 disease phenotype-associated
VAR_004813 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004814 commonName VAR_004814
VAR_004814 disease phenotype-associated
VAR_004814 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004815 commonName VAR_004815
VAR_004815 disease phenotype-associated
VAR_004815 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004816 commonName VAR_004816
VAR_004816 disease phenotype-associated
VAR_004816 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004817 commonName VAR_004817
VAR_004818 commonName VAR_004818
VAR_004818 disease phenotype-associated
VAR_004818 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004819 commonName VAR_004819
VAR_004819 disease phenotype-associated
VAR_004819 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004820 commonName VAR_004820
VAR_004820 disease phenotype-associated
VAR_004820 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004821 commonName VAR_004821
VAR_004821 disease phenotype-associated
VAR_004821 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004822 commonName VAR_004822
VAR_004822 disease phenotype-associated
VAR_004822 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004825 commonName VAR_004825
VAR_004825 disease phenotype-associated
VAR_004825 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004826 commonName VAR_004826
VAR_004826 disease phenotype-associated
VAR_004826 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004827 commonName VAR_004827
VAR_004827 disease phenotype-associated
VAR_004827 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]
VAR_004828 commonName VAR_004828
VAR_004828 disease phenotype-associated
VAR_004828 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004829 commonName VAR_004829
VAR_004829 disease phenotype-associated
VAR_004829 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004830 commonName VAR_004830
VAR_004830 disease phenotype-associated
VAR_004830 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004831 commonName VAR_004831
VAR_004831 disease phenotype-associated
VAR_004831 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004832 commonName VAR_004832
VAR_004832 disease phenotype-associated
VAR_004832 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004833 commonName VAR_004833
VAR_004833 disease phenotype-associated
VAR_004833 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004834 commonName VAR_004834
VAR_004834 disease phenotype-associated
VAR_004834 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004835 commonName VAR_004835
VAR_004835 disease phenotype-associated
VAR_004835 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004836 commonName VAR_004836
VAR_004836 disease phenotype-associated
VAR_004836 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004837 commonName VAR_004837
VAR_004837 disease phenotype-associated
VAR_004837 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_004838 commonName VAR_004838
VAR_004838 disease phenotype-associated
VAR_004838 phenoCommon Tritan color blindness (CBT) [MIM:190900]
VAR_004839 commonName VAR_004839
VAR_004839 disease phenotype-associated
VAR_004839 phenoCommon Tritan color blindness (CBT) [MIM:190900]
VAR_004840 commonName VAR_004840
VAR_004840 disease phenotype-associated
VAR_004840 phenoCommon Tritan color blindness (CBT) [MIM:190900]
VAR_004841 commonName VAR_004841
VAR_004841 disease phenotype-associated
VAR_004841 phenoCommon Blue cone monochromacy (BCM) [MIM:303700]
VAR_004841 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800]
VAR_004842 commonName VAR_004842
VAR_004842 disease not phenotype-associated
VAR_004843 commonName VAR_004843
VAR_004843 disease phenotype-associated
VAR_004843 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004844 commonName VAR_004844
VAR_004844 disease phenotype-associated
VAR_004844 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004845 commonName VAR_004845
VAR_004845 disease phenotype-associated
VAR_004845 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004846 commonName VAR_004846
VAR_004846 disease phenotype-associated
VAR_004846 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004847 commonName VAR_004847
VAR_004847 disease not phenotype-associated
VAR_004848 commonName VAR_004848
VAR_004848 disease phenotype-associated
VAR_004848 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004849 commonName VAR_004849
VAR_004849 disease phenotype-associated
VAR_004849 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004850 commonName VAR_004850
VAR_004850 disease phenotype-associated
VAR_004850 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004851 commonName VAR_004851
VAR_004851 disease not phenotype-associated
VAR_004852 commonName VAR_004852
VAR_004852 disease phenotype-associated
VAR_004852 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004853 commonName VAR_004853
VAR_004853 disease phenotype-associated
VAR_004853 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004854 commonName VAR_004854
VAR_004854 disease phenotype-associated
VAR_004854 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004855 commonName VAR_004855
VAR_004855 disease phenotype-associated
VAR_004855 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004856 commonName VAR_004856
VAR_004856 disease phenotype-associated
VAR_004856 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004857 commonName VAR_004857
VAR_004857 disease phenotype-associated
VAR_004857 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004858 commonName VAR_004858
VAR_004858 disease phenotype-associated
VAR_004858 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004860 commonName VAR_004860
VAR_004860 disease phenotype-associated
VAR_004860 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004861 commonName VAR_004861
VAR_004861 disease phenotype-associated
VAR_004861 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004862 commonName VAR_004862
VAR_004862 disease phenotype-associated
VAR_004862 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004863 commonName VAR_004863
VAR_004863 disease phenotype-associated
VAR_004863 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004864 commonName VAR_004864
VAR_004864 disease phenotype-associated
VAR_004864 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004865 commonName VAR_004865
VAR_004865 disease phenotype-associated
VAR_004865 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004866 commonName VAR_004866
VAR_004866 disease phenotype-associated
VAR_004866 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004867 commonName VAR_004867
VAR_004867 disease phenotype-associated
VAR_004867 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004868 commonName VAR_004868
VAR_004868 disease phenotype-associated
VAR_004868 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004869 commonName VAR_004869
VAR_004869 disease not phenotype-associated
VAR_004870 commonName VAR_004870
VAR_004870 disease phenotype-associated
VAR_004870 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004871 commonName VAR_004871
VAR_004871 disease not phenotype-associated
VAR_004872 commonName VAR_004872
VAR_004872 disease phenotype-associated
VAR_004872 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004873 commonName VAR_004873
VAR_004873 disease phenotype-associated
VAR_004873 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004874 commonName VAR_004874
VAR_004874 disease phenotype-associated
VAR_004874 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004875 commonName VAR_004875
VAR_004875 disease phenotype-associated
VAR_004875 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004876 commonName VAR_004876
VAR_004876 disease phenotype-associated
VAR_004876 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004877 commonName VAR_004877
VAR_004877 disease phenotype-associated
VAR_004877 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004878 commonName VAR_004878
VAR_004878 disease phenotype-associated
VAR_004878 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004879 commonName VAR_004879
VAR_004879 disease phenotype-associated
VAR_004879 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004880 commonName VAR_004880
VAR_004880 disease phenotype-associated
VAR_004880 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004881 commonName VAR_004881
VAR_004881 disease phenotype-associated
VAR_004881 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004882 commonName VAR_004882
VAR_004882 disease phenotype-associated
VAR_004882 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004883 commonName VAR_004883
VAR_004883 disease phenotype-associated
VAR_004883 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004884 commonName VAR_004884
VAR_004884 disease phenotype-associated
VAR_004884 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004885 commonName VAR_004885
VAR_004885 disease phenotype-associated
VAR_004885 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004886 commonName VAR_004886
VAR_004886 disease phenotype-associated
VAR_004886 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004887 commonName VAR_004887
VAR_004887 disease phenotype-associated
VAR_004887 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004888 commonName VAR_004888
VAR_004888 disease phenotype-associated
VAR_004888 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004889 commonName VAR_004889
VAR_004889 disease phenotype-associated
VAR_004889 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004890 commonName VAR_004890
VAR_004890 disease phenotype-associated
VAR_004890 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004892 commonName VAR_004892
VAR_004892 disease phenotype-associated
VAR_004892 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004893 commonName VAR_004893
VAR_004893 disease phenotype-associated
VAR_004893 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004894 commonName VAR_004894
VAR_004894 disease phenotype-associated
VAR_004894 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004895 commonName VAR_004895
VAR_004895 disease phenotype-associated
VAR_004895 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004896 commonName VAR_004896
VAR_004896 disease phenotype-associated
VAR_004896 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004897 commonName VAR_004897
VAR_004897 disease phenotype-associated
VAR_004897 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004898 commonName VAR_004898
VAR_004898 disease phenotype-associated
VAR_004898 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004899 commonName VAR_004899
VAR_004899 disease phenotype-associated
VAR_004899 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004900 commonName VAR_004900
VAR_004900 disease phenotype-associated
VAR_004900 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004901 commonName VAR_004901
VAR_004901 disease phenotype-associated
VAR_004901 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004902 commonName VAR_004902
VAR_004902 disease phenotype-associated
VAR_004902 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004903 commonName VAR_004903
VAR_004903 disease phenotype-associated
VAR_004903 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004904 commonName VAR_004904
VAR_004904 disease phenotype-associated
VAR_004904 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004905 commonName VAR_004905
VAR_004905 disease phenotype-associated
VAR_004905 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004906 commonName VAR_004906
VAR_004906 disease phenotype-associated
VAR_004906 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004907 commonName VAR_004907
VAR_004907 disease phenotype-associated
VAR_004907 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004908 commonName VAR_004908
VAR_004908 disease phenotype-associated
VAR_004908 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004909 commonName VAR_004909
VAR_004909 disease phenotype-associated
VAR_004909 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004910 commonName VAR_004910
VAR_004910 disease phenotype-associated
VAR_004910 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004911 commonName VAR_004911
VAR_004911 disease phenotype-associated
VAR_004911 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004912 commonName VAR_004912
VAR_004912 disease phenotype-associated
VAR_004912 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004913 commonName VAR_004913
VAR_004913 disease phenotype-associated
VAR_004913 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004914 commonName VAR_004914
VAR_004914 disease phenotype-associated
VAR_004914 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004915 commonName VAR_004915
VAR_004915 disease phenotype-associated
VAR_004915 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004916 commonName VAR_004916
VAR_004916 disease phenotype-associated
VAR_004916 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004917 commonName VAR_004917
VAR_004917 disease phenotype-associated
VAR_004917 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004918 commonName VAR_004918
VAR_004918 disease phenotype-associated
VAR_004918 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004919 commonName VAR_004919
VAR_004919 disease phenotype-associated
VAR_004919 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004920 commonName VAR_004920
VAR_004920 disease phenotype-associated
VAR_004920 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004921 commonName VAR_004921
VAR_004921 disease phenotype-associated
VAR_004921 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004922 commonName VAR_004922
VAR_004922 disease phenotype-associated
VAR_004922 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004923 commonName VAR_004923
VAR_004923 disease phenotype-associated
HbVar.674 ethnic Sicilian
VAR_004923 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004924 commonName VAR_004924
VAR_004924 disease phenotype-associated
VAR_004924 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004925 commonName VAR_004925
VAR_004925 disease phenotype-associated
VAR_004925 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004926 commonName VAR_004926
VAR_004926 disease phenotype-associated
VAR_004926 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004927 commonName VAR_004927
VAR_004927 disease not phenotype-associated
VAR_004929 commonName VAR_004929
VAR_004929 disease phenotype-associated
VAR_004929 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004930 commonName VAR_004930
VAR_004930 disease phenotype-associated
VAR_004930 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004931 commonName VAR_004931
VAR_004931 disease phenotype-associated
VAR_004931 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004932 commonName VAR_004932
VAR_004932 disease phenotype-associated
VAR_004932 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004933 commonName VAR_004933
VAR_004933 disease phenotype-associated
VAR_004933 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004934 commonName VAR_004934
VAR_004934 disease phenotype-associated
VAR_004934 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004935 commonName VAR_004935
VAR_004935 disease phenotype-associated
VAR_004935 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004936 commonName VAR_004936
VAR_004936 disease phenotype-associated
VAR_004936 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004938 commonName VAR_004938
VAR_004938 disease phenotype-associated
VAR_004938 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004939 commonName VAR_004939
VAR_004939 disease phenotype-associated
VAR_004939 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004940 commonName VAR_004940
VAR_004940 disease phenotype-associated
VAR_004940 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004941 commonName VAR_004941
VAR_004941 disease phenotype-associated
VAR_004941 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004942 commonName VAR_004942
VAR_004942 disease phenotype-associated
VAR_004942 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004943 commonName VAR_004943
VAR_004943 disease phenotype-associated
VAR_004943 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004944 commonName VAR_004944
VAR_004944 disease phenotype-associated
VAR_004944 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004946 commonName VAR_004946
VAR_004946 disease phenotype-associated
VAR_004946 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004947 commonName VAR_004947
VAR_004947 disease phenotype-associated
VAR_004947 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004948 commonName VAR_004948
VAR_004948 disease phenotype-associated
VAR_004948 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_004949 commonName VAR_004949
VAR_004949 disease phenotype-associated
VAR_004949 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004950 commonName VAR_004950
VAR_004950 disease phenotype-associated
VAR_004950 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004951 commonName VAR_004951
VAR_004951 disease phenotype-associated
VAR_004951 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004952 commonName VAR_004952
VAR_004952 disease phenotype-associated
VAR_004952 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004953 commonName VAR_004953
VAR_004953 disease phenotype-associated
VAR_004953 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004954 commonName VAR_004954
VAR_004954 disease phenotype-associated
VAR_004954 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930]
VAR_004955 commonName VAR_004955
VAR_004955 disease phenotype-associated
VAR_004955 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004956 commonName VAR_004956
VAR_004956 disease phenotype-associated
VAR_004956 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004957 commonName VAR_004957
VAR_004957 disease phenotype-associated
VAR_004957 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004958 commonName VAR_004958
VAR_004958 disease phenotype-associated
VAR_004958 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930]
VAR_004959 commonName VAR_004959
VAR_004959 disease phenotype-associated
VAR_004959 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004959 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930]
VAR_004960 commonName VAR_004960
VAR_004960 disease phenotype-associated
VAR_004960 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004961 commonName VAR_004961
VAR_004961 disease phenotype-associated
VAR_004961 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004962 commonName VAR_004962
VAR_004962 disease phenotype-associated
VAR_004962 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004963 commonName VAR_004963
VAR_004963 disease phenotype-associated
VAR_004963 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_004966 commonName VAR_004966
VAR_004966 disease phenotype-associated
VAR_004966 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930]
VAR_004967 commonName VAR_004967
VAR_004967 disease not phenotype-associated
VAR_004968 commonName VAR_004968
VAR_004968 disease phenotype-associated
VAR_004968 phenoCommon Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
VAR_004969 commonName VAR_004969
VAR_004969 disease phenotype-associated
VAR_004969 phenoCommon Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
VAR_004974 commonName VAR_004974
VAR_004974 disease phenotype-associated
VAR_004974 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
VAR_004976 commonName VAR_004976
VAR_004976 disease not phenotype-associated
VAR_004978 commonName VAR_004978
VAR_004978 disease phenotype-associated
VAR_004978 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
VAR_004979 commonName VAR_004979
VAR_004979 disease phenotype-associated
VAR_004979 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_004980 commonName VAR_004980
VAR_004980 disease phenotype-associated
VAR_004980 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004981 commonName VAR_004981
VAR_004981 disease phenotype-associated
VAR_004981 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004982 commonName VAR_004982
VAR_004982 disease phenotype-associated
VAR_004982 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004983 commonName VAR_004983
VAR_004983 disease phenotype-associated
VAR_004983 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004984 commonName VAR_004984
VAR_004984 disease phenotype-associated
VAR_004984 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004985 commonName VAR_004985
VAR_004985 disease phenotype-associated
VAR_004985 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004986 commonName VAR_004986
VAR_004986 disease phenotype-associated
VAR_004986 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004988 commonName VAR_004988
VAR_004988 disease phenotype-associated
VAR_004988 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004989 commonName VAR_004989
VAR_004989 disease phenotype-associated
VAR_004989 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004990 commonName VAR_004990
VAR_004990 disease phenotype-associated
VAR_004990 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004991 commonName VAR_004991
VAR_004991 disease phenotype-associated
VAR_004991 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004992 commonName VAR_004992
VAR_004992 disease phenotype-associated
VAR_004992 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004993 commonName VAR_004993
VAR_004993 disease phenotype-associated
VAR_004993 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004994 commonName VAR_004994
VAR_004994 disease phenotype-associated
VAR_004994 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_004995 commonName VAR_004995
VAR_004995 disease phenotype-associated
VAR_004995 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_004996 commonName VAR_004996
VAR_004996 disease phenotype-associated
VAR_004996 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_004998 commonName VAR_004998
VAR_004998 disease phenotype-associated
VAR_004998 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_004999 commonName VAR_004999
VAR_004999 disease phenotype-associated
VAR_004999 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_005000 commonName VAR_005000
VAR_005000 disease phenotype-associated
VAR_005000 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_005001 commonName VAR_005001
VAR_005001 disease phenotype-associated
VAR_005001 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_005002 commonName VAR_005002
VAR_005002 disease phenotype-associated
VAR_005002 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_005003 commonName VAR_005003
VAR_005003 disease not phenotype-associated
VAR_005004 commonName VAR_005004
VAR_005004 disease phenotype-associated
VAR_005004 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_005005 commonName VAR_005005
VAR_005005 disease phenotype-associated
VAR_005005 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_005006 commonName VAR_005006
VAR_005006 disease not phenotype-associated
VAR_005007 commonName VAR_005007
VAR_005007 disease phenotype-associated
VAR_005007 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005008 commonName VAR_005008
VAR_005008 disease phenotype-associated
VAR_005008 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005009 commonName VAR_005009
VAR_005009 disease phenotype-associated
VAR_005009 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005010 commonName VAR_005010
VAR_005010 disease phenotype-associated
VAR_005010 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005011 commonName VAR_005011
VAR_005011 disease phenotype-associated
VAR_005011 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005012 commonName VAR_005012
VAR_005012 disease phenotype-associated
VAR_005012 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005013 commonName VAR_005013
VAR_005013 disease phenotype-associated
VAR_005013 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005014 commonName VAR_005014
VAR_005014 disease phenotype-associated
VAR_005014 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005015 commonName VAR_005015
VAR_005015 disease phenotype-associated
VAR_005015 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_005032 commonName VAR_005032
VAR_005032 disease phenotype-associated
VAR_005032 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005033 commonName VAR_005033
VAR_005033 disease phenotype-associated
VAR_005033 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005034 commonName VAR_005034
VAR_005034 disease phenotype-associated
VAR_005034 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005035 commonName VAR_005035
VAR_005035 disease phenotype-associated
VAR_005035 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005036 comment Colorectal carcinoma
VAR_005036 commonName VAR_005036
VAR_005036 disease phenotype-associated
VAR_005036 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005037 comment Colorectal tumor
VAR_005037 commonName VAR_005037
VAR_005038 commonName VAR_005038
VAR_005038 disease phenotype-associated
VAR_005038 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005039 commonName VAR_005039
VAR_005039 disease phenotype-associated
VAR_005039 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005040 comment Colorectal tumor
VAR_005040 commonName VAR_005040
VAR_005041 commonName VAR_005041
VAR_005041 disease not phenotype-associated
VAR_005042 commonName VAR_005042
VAR_005042 disease phenotype-associated
VAR_005042 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005043 commonName VAR_005043
VAR_005043 disease phenotype-associated
VAR_005043 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005044 commonName VAR_005044
VAR_005044 disease phenotype-associated
VAR_005044 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005045 commonName VAR_005045
VAR_005045 disease phenotype-associated
VAR_005045 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005046 commonName VAR_005046
VAR_005046 disease phenotype-associated
VAR_005046 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005047 commonName VAR_005047
VAR_005047 disease not phenotype-associated
VAR_005048 commonName VAR_005048
VAR_005048 disease not phenotype-associated
VAR_005049 commonName VAR_005049
VAR_005049 disease not phenotype-associated
VAR_005050 commonName VAR_005050
VAR_005050 disease phenotype-associated
VAR_005050 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005051 commonName VAR_005051
VAR_005051 disease phenotype-associated
VAR_005051 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005052 commonName VAR_005052
VAR_005052 disease phenotype-associated
VAR_005052 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_005053 commonName VAR_005053
VAR_005053 disease phenotype-associated
VAR_005053 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_005054 comment Colorectal tumor
VAR_005054 commonName VAR_005054
VAR_005069 commonName VAR_005069
VAR_005069 disease phenotype-associated
VAR_005069 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005070 commonName VAR_005070
VAR_005070 disease phenotype-associated
VAR_005070 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005071 commonName VAR_005071
VAR_005071 disease phenotype-associated
VAR_005071 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005072 commonName VAR_005072
VAR_005072 disease phenotype-associated
VAR_005072 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005073 commonName VAR_005073
VAR_005073 disease phenotype-associated
VAR_005073 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005074 commonName VAR_005074
VAR_005074 disease phenotype-associated
VAR_005074 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005075 commonName VAR_005075
VAR_005075 disease phenotype-associated
VAR_005075 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_005076 commonName VAR_005076
VAR_005076 disease phenotype-associated
VAR_005076 phenoCommon Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]
VAR_005077 commonName VAR_005077
VAR_005077 disease phenotype-associated
VAR_005077 phenoCommon Avellino corneal dystrophy (ACD) [MIM:607541]
VAR_005078 commonName VAR_005078
VAR_005078 disease phenotype-associated
VAR_005078 phenoCommon Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]
VAR_005079 commonName VAR_005079
VAR_005079 disease phenotype-associated
VAR_005079 phenoCommon Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]
VAR_005084 commonName VAR_005084
VAR_005084 disease phenotype-associated
VAR_005084 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_005085 commonName VAR_005085
VAR_005085 disease phenotype-associated
VAR_005085 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005086 commonName VAR_005086
VAR_005086 disease phenotype-associated
VAR_005086 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005087 commonName VAR_005087
VAR_005088 commonName VAR_005088
VAR_005088 disease phenotype-associated
VAR_005088 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005089 commonName VAR_005089
VAR_005089 disease phenotype-associated
VAR_005089 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005090 commonName VAR_005090
VAR_005090 disease phenotype-associated
VAR_005090 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005091 commonName VAR_005091
VAR_005091 disease phenotype-associated
VAR_005091 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005092 commonName VAR_005092
VAR_005092 disease not phenotype-associated
VAR_005093 comment Lung cancer
VAR_005093 commonName VAR_005093
VAR_005094 commonName VAR_005094
VAR_005094 disease not phenotype-associated
VAR_005095 commonName VAR_005095
VAR_005095 disease phenotype-associated
VAR_005095 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005096 comment Ovarian cancer
VAR_005096 commonName VAR_005096
VAR_005097 commonName VAR_005097
VAR_005097 disease phenotype-associated
VAR_005097 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005098 commonName VAR_005098
VAR_005098 disease not phenotype-associated
VAR_005099 commonName VAR_005099
VAR_005099 disease not phenotype-associated
VAR_005101 comment Bladder cancer
VAR_005101 commonName VAR_005101
VAR_005102 commonName VAR_005102
VAR_005102 disease not phenotype-associated
VAR_005103 commonName VAR_005103
VAR_005103 disease not phenotype-associated
VAR_005104 commonName VAR_005104
VAR_005104 disease not phenotype-associated
VAR_005105 commonName VAR_005105
VAR_005105 disease phenotype-associated
VAR_005105 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005106 commonName VAR_005106
VAR_005106 disease phenotype-associated
VAR_005106 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005107 commonName VAR_005107
VAR_005107 disease phenotype-associated
VAR_005107 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005108 commonName VAR_005108
VAR_005109 comment Melanoma
VAR_005109 commonName VAR_005109
VAR_005110 commonName VAR_005110
VAR_005110 disease phenotype-associated
VAR_005110 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005111 commonName VAR_005111
VAR_005111 disease phenotype-associated
VAR_005111 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_005112 commonName VAR_005112
VAR_005112 disease not phenotype-associated
VAR_005113 commonName VAR_005113
VAR_005113 disease phenotype-associated
VAR_005113 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005114 commonName VAR_005114
VAR_005114 disease phenotype-associated
VAR_005114 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005115 commonName VAR_005115
VAR_005115 disease phenotype-associated
VAR_005115 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005116 commonName VAR_005116
VAR_005116 disease phenotype-associated
VAR_005116 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005117 commonName VAR_005117
VAR_005117 disease phenotype-associated
VAR_005117 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005118 commonName VAR_005118
VAR_005118 disease phenotype-associated
VAR_005118 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005119 commonName VAR_005119
VAR_005119 disease phenotype-associated
VAR_005119 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260]
VAR_005122 commonName VAR_005122
VAR_005122 disease not phenotype-associated
VAR_005123 commonName VAR_005123
VAR_005123 disease phenotype-associated
VAR_005123 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_005124 commonName VAR_005124
VAR_005124 disease phenotype-associated
VAR_005124 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_005125 commonName VAR_005125
VAR_005125 disease phenotype-associated
VAR_005125 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_005128 commonName VAR_005128
VAR_005128 disease not phenotype-associated
VAR_005131 commonName VAR_005131
VAR_005131 disease phenotype-associated
VAR_005131 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
VAR_005132 commonName VAR_005132
VAR_005132 disease phenotype-associated
VAR_005132 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
VAR_005137 commonName VAR_005137
VAR_005137 disease phenotype-associated
VAR_005137 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_005138 commonName VAR_005138
VAR_005138 disease not phenotype-associated
VAR_005139 commonName VAR_005139
VAR_005139 disease not phenotype-associated
VAR_005140 commonName VAR_005140
VAR_005140 disease phenotype-associated
VAR_005140 phenoCommon Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]
VAR_005141 comment A colorectal cancer sample
VAR_005141 commonName VAR_005141
VAR_005142 comment A colorectal cancer sample
VAR_005142 commonName VAR_005142
VAR_005143 comment A colorectal cancer sample
VAR_005143 commonName VAR_005143
VAR_005144 comment Colorectal cancer samples
VAR_005144 commonName VAR_005144
VAR_005145 comment Colorectal cancer samples
VAR_005145 commonName VAR_005145
VAR_005147 commonName VAR_005147
VAR_005147 disease phenotype-associated
VAR_005147 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200]
VAR_005148 commonName VAR_005148
VAR_005148 disease not phenotype-associated
VAR_005149 commonName VAR_005149
VAR_005149 disease phenotype-associated
VAR_005149 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376]
VAR_005150 commonName VAR_005150
VAR_005150 disease phenotype-associated
VAR_005150 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376]
VAR_005151 commonName VAR_005151
VAR_005151 disease not phenotype-associated
VAR_005153 commonName VAR_005153
VAR_005153 disease not phenotype-associated
VAR_005154 commonName VAR_005154
VAR_005154 disease phenotype-associated
VAR_005154 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200]
VAR_005155 commonName VAR_005155
VAR_005155 disease not phenotype-associated
VAR_005156 commonName VAR_005156
VAR_005156 disease not phenotype-associated
VAR_005157 commonName VAR_005157
VAR_005157 disease not phenotype-associated
VAR_005158 commonName VAR_005158
VAR_005158 disease not phenotype-associated
VAR_005159 commonName VAR_005159
VAR_005159 disease not phenotype-associated
VAR_005160 commonName VAR_005160
VAR_005160 disease not phenotype-associated
VAR_005161 commonName VAR_005161
VAR_005161 disease not phenotype-associated
VAR_005162 commonName VAR_005162
VAR_005162 disease not phenotype-associated
VAR_005163 commonName VAR_005163
VAR_005163 disease not phenotype-associated
VAR_005164 commonName VAR_005164
VAR_005164 disease not phenotype-associated
VAR_005165 commonName VAR_005165
VAR_005165 disease not phenotype-associated
VAR_005173 commonName VAR_005173
VAR_005173 disease not phenotype-associated
VAR_005174 commonName VAR_005174
VAR_005174 disease not phenotype-associated
VAR_005175 commonName VAR_005175
VAR_005175 disease not phenotype-associated
VAR_005176 commonName VAR_005176
VAR_005176 disease not phenotype-associated
VAR_005177 commonName VAR_005177
VAR_005177 disease not phenotype-associated
VAR_005178 commonName VAR_005178
VAR_005178 disease not phenotype-associated
VAR_005179 commonName VAR_005179
VAR_005179 disease phenotype-associated
VAR_005179 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005180 commonName VAR_005180
VAR_005180 disease phenotype-associated
VAR_005180 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005181 commonName VAR_005181
VAR_005181 disease phenotype-associated
VAR_005181 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005182 commonName VAR_005182
VAR_005182 disease phenotype-associated
VAR_005182 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005183 commonName VAR_005183
VAR_005183 disease phenotype-associated
VAR_005183 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005184 commonName VAR_005184
VAR_005184 disease phenotype-associated
VAR_005184 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005185 commonName VAR_005185
VAR_005185 disease phenotype-associated
VAR_005185 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005186 commonName VAR_005186
VAR_005186 disease phenotype-associated
VAR_005186 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005187 commonName VAR_005187
VAR_005187 disease phenotype-associated
VAR_005187 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005188 commonName VAR_005188
VAR_005188 disease phenotype-associated
VAR_005188 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005189 commonName VAR_005189
VAR_005189 disease phenotype-associated
VAR_005189 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005190 commonName VAR_005190
VAR_005190 disease phenotype-associated
VAR_005190 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005191 commonName VAR_005191
VAR_005191 disease phenotype-associated
VAR_005191 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_005192 commonName VAR_005192
VAR_005192 disease not phenotype-associated
VAR_005193 commonName VAR_005193
VAR_005193 disease phenotype-associated
VAR_005193 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_005194 commonName VAR_005194
VAR_005194 disease phenotype-associated
VAR_005194 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_005195 commonName VAR_005195
VAR_005195 disease phenotype-associated
VAR_005195 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_005197 commonName VAR_005197
VAR_005197 disease phenotype-associated
VAR_005197 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_005198 commonName VAR_005198
VAR_005198 disease phenotype-associated
VAR_005198 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
VAR_005199 commonName VAR_005199
VAR_005199 disease phenotype-associated
VAR_005199 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
VAR_005200 commonName VAR_005200
VAR_005200 disease phenotype-associated
VAR_005200 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
VAR_005202 commonName VAR_005202
VAR_005202 disease not phenotype-associated
VAR_005203 commonName VAR_005203
VAR_005203 disease phenotype-associated
VAR_005203 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_005204 commonName VAR_005204
VAR_005204 disease phenotype-associated
VAR_005204 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_005205 commonName VAR_005205
VAR_005205 disease phenotype-associated
VAR_005205 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005206 commonName VAR_005206
VAR_005206 disease phenotype-associated
VAR_005206 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005207 commonName VAR_005207
VAR_005207 disease phenotype-associated
VAR_005207 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005208 commonName VAR_005208
VAR_005208 disease phenotype-associated
VAR_005208 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005209 commonName VAR_005209
VAR_005209 disease phenotype-associated
VAR_005209 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005210 commonName VAR_005210
VAR_005210 disease phenotype-associated
VAR_005210 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005211 commonName VAR_005211
VAR_005211 disease phenotype-associated
VAR_005211 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005212 commonName VAR_005212
VAR_005212 disease phenotype-associated
VAR_005212 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005213 commonName VAR_005213
VAR_005213 disease phenotype-associated
VAR_005213 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005214 commonName VAR_005214
VAR_005214 disease phenotype-associated
VAR_005214 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005215 commonName VAR_005215
VAR_005215 disease phenotype-associated
VAR_005215 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005216 commonName VAR_005216
VAR_005216 disease phenotype-associated
VAR_005216 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005217 commonName VAR_005217
VAR_005217 disease phenotype-associated
VAR_005217 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005218 commonName VAR_005218
VAR_005218 disease phenotype-associated
VAR_005218 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005219 commonName VAR_005219
VAR_005219 disease phenotype-associated
VAR_005219 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005220 commonName VAR_005220
VAR_005220 disease phenotype-associated
VAR_005220 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_005225 commonName VAR_005225
VAR_005225 disease not phenotype-associated
VAR_005226 commonName VAR_005226
VAR_005226 disease not phenotype-associated
VAR_005227 commonName VAR_005227
VAR_005227 disease not phenotype-associated
VAR_005228 commonName VAR_005228
VAR_005228 disease not phenotype-associated
VAR_005229 commonName VAR_005229
VAR_005229 disease not phenotype-associated
VAR_005230 commonName VAR_005230
VAR_005230 disease not phenotype-associated
VAR_005231 commonName VAR_005231
VAR_005231 disease not phenotype-associated
VAR_005234 commonName VAR_005234
VAR_005234 disease phenotype-associated
VAR_005234 phenoCommon Fragile X syndrome (FRAX) [MIM:300624]
VAR_005235 commonName VAR_005235
VAR_005235 disease not phenotype-associated
VAR_005237 commonName VAR_005237
VAR_005237 disease phenotype-associated
VAR_005237 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005238 commonName VAR_005238
VAR_005238 disease phenotype-associated
VAR_005238 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005239 commonName VAR_005239
VAR_005239 disease phenotype-associated
VAR_005239 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005240 commonName VAR_005240
VAR_005240 disease phenotype-associated
VAR_005240 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005241 commonName VAR_005241
VAR_005241 disease phenotype-associated
VAR_005241 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005242 commonName VAR_005242
VAR_005242 disease phenotype-associated
VAR_005242 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005243 commonName VAR_005243
VAR_005243 disease phenotype-associated
VAR_005243 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005244 commonName VAR_005244
VAR_005244 disease phenotype-associated
VAR_005244 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005245 commonName VAR_005245
VAR_005245 disease phenotype-associated
VAR_005245 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005246 commonName VAR_005246
VAR_005246 disease phenotype-associated
VAR_005246 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005247 commonName VAR_005247
VAR_005247 disease phenotype-associated
VAR_005247 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005248 commonName VAR_005248
VAR_005248 disease phenotype-associated
VAR_005248 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005249 commonName VAR_005249
VAR_005249 disease phenotype-associated
VAR_005249 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005250 commonName VAR_005250
VAR_005250 disease phenotype-associated
VAR_005250 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005251 commonName VAR_005251
VAR_005251 disease phenotype-associated
VAR_005251 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005253 commonName VAR_005253
VAR_005253 disease phenotype-associated
VAR_005253 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005254 commonName VAR_005254
VAR_005254 disease phenotype-associated
VAR_005254 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_005263 commonName VAR_005263
VAR_005263 disease phenotype-associated
VAR_005263 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_005264 commonName VAR_005264
VAR_005264 disease phenotype-associated
VAR_005264 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_005265 commonName VAR_005265
VAR_005265 disease not phenotype-associated
VAR_005266 commonName VAR_005266
VAR_005266 disease phenotype-associated
VAR_005266 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655]
VAR_005267 commonName VAR_005267
VAR_005267 disease phenotype-associated
VAR_005267 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655]
VAR_005269 commonName VAR_005269
VAR_005269 disease not phenotype-associated
VAR_005272 commonName VAR_005272
VAR_005272 disease phenotype-associated
VAR_005272 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005273 commonName VAR_005273
VAR_005273 disease phenotype-associated
VAR_005273 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005274 commonName VAR_005274
VAR_005274 disease phenotype-associated
VAR_005274 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005275 commonName VAR_005275
VAR_005275 disease phenotype-associated
VAR_005275 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005276 commonName VAR_005276
VAR_005276 disease phenotype-associated
VAR_005276 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005277 commonName VAR_005277
VAR_005277 disease phenotype-associated
VAR_005277 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005278 commonName VAR_005278
VAR_005278 disease phenotype-associated
VAR_005278 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005279 commonName VAR_005279
VAR_005279 disease phenotype-associated
VAR_005279 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005280 commonName VAR_005280
VAR_005280 disease phenotype-associated
VAR_005280 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005281 commonName VAR_005281
VAR_005281 disease phenotype-associated
VAR_005281 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005282 commonName VAR_005282
VAR_005282 disease phenotype-associated
VAR_005282 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005283 commonName VAR_005283
VAR_005283 disease phenotype-associated
VAR_005283 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005284 commonName VAR_005284
VAR_005284 disease phenotype-associated
VAR_005284 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005285 commonName VAR_005285
VAR_005285 disease phenotype-associated
VAR_005285 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005286 commonName VAR_005286
VAR_005286 disease phenotype-associated
VAR_005286 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_005288 commonName VAR_005288
VAR_005288 disease not phenotype-associated
VAR_005290 commonName VAR_005290
VAR_005290 disease not phenotype-associated
VAR_005291 commonName VAR_005291
VAR_005291 disease not phenotype-associated
VAR_005292 commonName VAR_005292
VAR_005292 disease not phenotype-associated
VAR_005293 commonName VAR_005293
VAR_005293 disease not phenotype-associated
VAR_005294 commonName VAR_005294
VAR_005294 disease not phenotype-associated
VAR_005295 commonName VAR_005295
VAR_005295 disease not phenotype-associated
VAR_005296 commonName VAR_005296
VAR_005296 disease not phenotype-associated
VAR_005297 commonName VAR_005297
VAR_005297 disease not phenotype-associated
VAR_005299 commonName VAR_005299
VAR_005299 disease not phenotype-associated
VAR_005300 commonName VAR_005300
VAR_005300 disease not phenotype-associated
VAR_005302 commonName VAR_005302
VAR_005302 disease phenotype-associated
VAR_005302 phenoCommon The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_005303 commonName VAR_005303
VAR_005303 disease phenotype-associated
VAR_005303 phenoCommon The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_005304 commonName VAR_005304
VAR_005306 commonName VAR_005306
VAR_005307 commonName VAR_005307
VAR_005307 disease phenotype-associated
VAR_005307 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005308 commonName VAR_005308
VAR_005308 disease phenotype-associated
VAR_005308 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005309 commonName VAR_005309
VAR_005309 disease phenotype-associated
VAR_005309 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005310 commonName VAR_005310
VAR_005311 commonName VAR_005311
VAR_005311 disease phenotype-associated
VAR_005311 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005312 commonName VAR_005312
VAR_005312 disease phenotype-associated
VAR_005312 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005313 commonName VAR_005313
VAR_005313 disease phenotype-associated
VAR_005313 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005314 commonName VAR_005314
VAR_005314 disease phenotype-associated
VAR_005314 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005315 commonName VAR_005315
VAR_005315 disease phenotype-associated
VAR_005315 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005316 commonName VAR_005316
VAR_005317 commonName VAR_005317
VAR_005317 disease phenotype-associated
VAR_005317 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005318 commonName VAR_005318
VAR_005318 disease phenotype-associated
VAR_005318 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005319 commonName VAR_005319
VAR_005320 commonName VAR_005320
VAR_005320 disease phenotype-associated
VAR_005320 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005321 commonName VAR_005321
VAR_005321 disease phenotype-associated
VAR_005321 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005322 commonName VAR_005322
VAR_005322 disease phenotype-associated
VAR_005322 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005323 commonName VAR_005323
VAR_005323 disease phenotype-associated
VAR_005323 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005324 commonName VAR_005324
VAR_005325 commonName VAR_005325
VAR_005325 disease phenotype-associated
VAR_005325 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005326 commonName VAR_005326
VAR_005326 disease phenotype-associated
VAR_005326 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005327 commonName VAR_005327
VAR_005327 disease phenotype-associated
VAR_005327 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005328 commonName VAR_005328
VAR_005329 commonName VAR_005329
VAR_005330 commonName VAR_005330
VAR_005330 disease phenotype-associated
VAR_005330 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005332 commonName VAR_005332
VAR_005332 disease phenotype-associated
VAR_005332 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005333 commonName VAR_005333
VAR_005333 disease phenotype-associated
VAR_005333 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005334 commonName VAR_005334
VAR_005335 commonName VAR_005335
VAR_005336 commonName VAR_005336
VAR_005336 disease phenotype-associated
VAR_005336 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005337 commonName VAR_005337
VAR_005338 commonName VAR_005338
VAR_005338 disease phenotype-associated
VAR_005338 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005340 commonName VAR_005340
VAR_005341 commonName VAR_005341
VAR_005341 disease phenotype-associated
VAR_005341 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005342 commonName VAR_005342
VAR_005342 disease phenotype-associated
VAR_005342 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005343 commonName VAR_005343
VAR_005344 commonName VAR_005344
VAR_005345 commonName VAR_005345
VAR_005345 disease phenotype-associated
VAR_005345 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005346 commonName VAR_005346
VAR_005347 commonName VAR_005347
VAR_005348 commonName VAR_005348
VAR_005349 commonName VAR_005349
VAR_005349 disease phenotype-associated
VAR_005349 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005350 commonName VAR_005350
VAR_005350 disease phenotype-associated
VAR_005350 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005351 commonName VAR_005351
VAR_005352 commonName VAR_005352
VAR_005352 disease phenotype-associated
VAR_005352 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005353 commonName VAR_005353
VAR_005353 disease phenotype-associated
VAR_005353 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005354 commonName VAR_005354
VAR_005354 disease phenotype-associated
VAR_005354 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005355 commonName VAR_005355
VAR_005356 commonName VAR_005356
VAR_005357 commonName VAR_005357
VAR_005357 disease not phenotype-associated
VAR_005358 commonName VAR_005358
VAR_005358 disease phenotype-associated
VAR_005358 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005359 commonName VAR_005359
VAR_005360 commonName VAR_005360
VAR_005360 disease phenotype-associated
VAR_005360 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005361 commonName VAR_005361
VAR_005361 disease phenotype-associated
VAR_005361 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005362 commonName VAR_005362
VAR_005362 disease phenotype-associated
VAR_005362 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005363 commonName VAR_005363
VAR_005364 commonName VAR_005364
VAR_005364 disease phenotype-associated
VAR_005364 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005365 commonName VAR_005365
VAR_005366 commonName VAR_005366
VAR_005366 disease phenotype-associated
VAR_005366 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005367 commonName VAR_005367
VAR_005368 commonName VAR_005368
VAR_005368 disease phenotype-associated
VAR_005368 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005369 commonName VAR_005369
VAR_005370 commonName VAR_005370
VAR_005371 commonName VAR_005371
VAR_005372 commonName VAR_005372
VAR_005373 commonName VAR_005373
VAR_005374 commonName VAR_005374
VAR_005374 disease phenotype-associated
VAR_005374 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005375 commonName VAR_005375
VAR_005376 commonName VAR_005376
VAR_005376 disease phenotype-associated
VAR_005376 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005377 commonName VAR_005377
VAR_005378 commonName VAR_005378
VAR_005379 commonName VAR_005379
VAR_005379 disease phenotype-associated
VAR_005379 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005380 commonName VAR_005380
VAR_005380 disease phenotype-associated
VAR_005380 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005381 commonName VAR_005381
VAR_005381 disease phenotype-associated
VAR_005381 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005382 commonName VAR_005382
VAR_005382 disease phenotype-associated
VAR_005382 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005383 commonName VAR_005383
VAR_005383 disease phenotype-associated
VAR_005383 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005384 commonName VAR_005384
VAR_005384 disease phenotype-associated
VAR_005384 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005385 commonName VAR_005385
VAR_005385 disease phenotype-associated
VAR_005385 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005386 commonName VAR_005386
VAR_005387 commonName VAR_005387
VAR_005388 commonName VAR_005388
VAR_005389 commonName VAR_005389
VAR_005390 commonName VAR_005390
VAR_005391 commonName VAR_005391
VAR_005391 disease phenotype-associated
VAR_005391 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005392 commonName VAR_005392
VAR_005392 disease phenotype-associated
VAR_005392 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005394 commonName VAR_005394
VAR_005395 commonName VAR_005395
VAR_005395 disease not phenotype-associated
VAR_005396 commonName VAR_005396
VAR_005397 commonName VAR_005397
VAR_005397 disease not phenotype-associated
VAR_005398 commonName VAR_005398
VAR_005398 disease not phenotype-associated
VAR_005399 commonName VAR_005399
VAR_005399 disease phenotype-associated
VAR_005399 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005400 commonName VAR_005400
VAR_005400 disease phenotype-associated
VAR_005400 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005401 commonName VAR_005401
VAR_005401 disease not phenotype-associated
VAR_005402 commonName VAR_005402
VAR_005402 disease phenotype-associated
VAR_005402 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005403 commonName VAR_005403
VAR_005403 disease phenotype-associated
VAR_005403 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_005421 commonName VAR_005421
VAR_005421 disease not phenotype-associated
VAR_005422 commonName VAR_005422
VAR_005422 disease not phenotype-associated
VAR_005423 commonName VAR_005423
VAR_005423 disease not phenotype-associated
VAR_005424 commonName VAR_005424
VAR_005424 disease not phenotype-associated
VAR_005425 commonName VAR_005425
VAR_005425 disease phenotype-associated
VAR_005425 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005426 commonName VAR_005426
VAR_005426 disease phenotype-associated
VAR_005426 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005427 commonName VAR_005427
VAR_005427 disease phenotype-associated
VAR_005427 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005428 commonName VAR_005428
VAR_005428 disease phenotype-associated
VAR_005428 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005429 commonName VAR_005429
VAR_005429 disease phenotype-associated
VAR_005429 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005430 commonName VAR_005430
VAR_005430 disease phenotype-associated
VAR_005430 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005432 commonName VAR_005432
VAR_005432 disease phenotype-associated
VAR_005432 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005433 commonName VAR_005433
VAR_005433 disease phenotype-associated
VAR_005433 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005434 commonName VAR_005434
VAR_005434 disease phenotype-associated
VAR_005434 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005436 commonName VAR_005436
VAR_005436 disease phenotype-associated
VAR_005436 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005437 commonName VAR_005437
VAR_005437 disease phenotype-associated
VAR_005437 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005438 commonName VAR_005438
VAR_005438 disease phenotype-associated
VAR_005438 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005440 commonName VAR_005440
VAR_005440 disease not phenotype-associated
VAR_005441 commonName VAR_005441
VAR_005441 disease phenotype-associated
VAR_005441 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005442 commonName VAR_005442
VAR_005442 disease phenotype-associated
VAR_005442 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005443 commonName VAR_005443
VAR_005443 disease phenotype-associated
VAR_005443 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005444 commonName VAR_005444
VAR_005444 disease phenotype-associated
VAR_005444 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005445 commonName VAR_005445
VAR_005445 disease phenotype-associated
VAR_005445 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_005446 commonName VAR_005446
VAR_005446 disease phenotype-associated
VAR_005446 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005447 commonName VAR_005447
VAR_005447 disease phenotype-associated
VAR_005447 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005448 commonName VAR_005448
VAR_005448 disease phenotype-associated
VAR_005448 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_005449 commonName VAR_005449
VAR_005449 disease phenotype-associated
VAR_005449 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005450 commonName VAR_005450
VAR_005450 disease phenotype-associated
VAR_005450 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_005451 commonName VAR_005451
VAR_005451 disease phenotype-associated
VAR_005451 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005452 commonName VAR_005452
VAR_005452 disease phenotype-associated
VAR_005452 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005453 commonName VAR_005453
VAR_005453 disease phenotype-associated
VAR_005453 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005454 commonName VAR_005454
VAR_005454 disease phenotype-associated
VAR_005454 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005455 commonName VAR_005455
VAR_005455 disease phenotype-associated
VAR_005455 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005456 commonName VAR_005456
VAR_005456 disease phenotype-associated
VAR_005456 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005457 commonName VAR_005457
VAR_005457 disease phenotype-associated
VAR_005457 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005458 commonName VAR_005458
VAR_005458 disease phenotype-associated
VAR_005458 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005460 commonName VAR_005460
VAR_005460 disease phenotype-associated
VAR_005460 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005461 commonName VAR_005461
VAR_005461 disease phenotype-associated
VAR_005461 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005464 commonName VAR_005464
VAR_005464 disease phenotype-associated
VAR_005464 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005465 commonName VAR_005465
VAR_005465 disease phenotype-associated
VAR_005465 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005466 commonName VAR_005466
VAR_005466 disease not phenotype-associated
VAR_005467 commonName VAR_005467
VAR_005467 disease phenotype-associated
VAR_005467 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_005468 commonName VAR_005468
VAR_005468 disease phenotype-associated
VAR_005468 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005469 commonName VAR_005469
VAR_005469 disease phenotype-associated
VAR_005469 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005470 commonName VAR_005470
VAR_005470 disease phenotype-associated
VAR_005470 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005471 commonName VAR_005471
VAR_005471 disease phenotype-associated
VAR_005471 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005472 commonName VAR_005472
VAR_005472 disease phenotype-associated
VAR_005472 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005473 commonName VAR_005473
VAR_005473 disease phenotype-associated
VAR_005473 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005474 commonName VAR_005474
VAR_005474 disease phenotype-associated
VAR_005474 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005475 commonName VAR_005475
VAR_005475 disease phenotype-associated
VAR_005475 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005476 commonName VAR_005476
VAR_005476 disease phenotype-associated
VAR_005476 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005477 commonName VAR_005477
VAR_005477 disease phenotype-associated
VAR_005477 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_005478 commonName VAR_005478
VAR_005478 disease phenotype-associated
VAR_005478 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005479 commonName VAR_005479
VAR_005479 disease phenotype-associated
VAR_005479 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005480 commonName VAR_005480
VAR_005480 disease phenotype-associated
VAR_005480 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005481 commonName VAR_005481
VAR_005481 disease phenotype-associated
VAR_005481 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005482 commonName VAR_005482
VAR_005482 disease phenotype-associated
VAR_005482 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005483 commonName VAR_005483
VAR_005483 disease phenotype-associated
VAR_005483 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005483 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005484 commonName VAR_005484
VAR_005484 disease phenotype-associated
VAR_005484 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005485 commonName VAR_005485
VAR_005485 disease phenotype-associated
VAR_005485 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005486 commonName VAR_005486
VAR_005486 disease phenotype-associated
VAR_005486 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005487 commonName VAR_005487
VAR_005487 disease phenotype-associated
VAR_005487 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005488 commonName VAR_005488
VAR_005488 disease phenotype-associated
VAR_005488 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005489 commonName VAR_005489
VAR_005489 disease phenotype-associated
VAR_005489 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005490 commonName VAR_005490
VAR_005490 disease phenotype-associated
VAR_005490 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005491 commonName VAR_005491
VAR_005491 disease phenotype-associated
VAR_005491 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005492 commonName VAR_005492
VAR_005492 disease phenotype-associated
VAR_005492 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005494 commonName VAR_005494
VAR_005494 disease phenotype-associated
VAR_005494 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005496 commonName VAR_005496
VAR_005496 disease phenotype-associated
VAR_005496 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005497 commonName VAR_005497
VAR_005497 disease phenotype-associated
VAR_005497 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005498 commonName VAR_005498
VAR_005498 disease phenotype-associated
VAR_005498 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005499 commonName VAR_005499
VAR_005499 disease phenotype-associated
VAR_005499 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005500 commonName VAR_005500
VAR_005500 disease phenotype-associated
VAR_005500 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005501 commonName VAR_005501
VAR_005501 disease phenotype-associated
VAR_005501 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005501 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005502 commonName VAR_005502
VAR_005502 disease phenotype-associated
VAR_005502 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005502 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005504 commonName VAR_005504
VAR_005504 disease phenotype-associated
VAR_005504 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_005505 commonName VAR_005505
VAR_005505 disease phenotype-associated
VAR_005505 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_005506 commonName VAR_005506
VAR_005506 disease not phenotype-associated
VAR_005507 commonName VAR_005507
VAR_005507 disease phenotype-associated
VAR_005507 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005508 commonName VAR_005508
VAR_005508 disease phenotype-associated
VAR_005508 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005509 commonName VAR_005509
VAR_005509 disease phenotype-associated
VAR_005509 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005510 commonName VAR_005510
VAR_005510 disease phenotype-associated
VAR_005510 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005511 commonName VAR_005511
VAR_005511 disease phenotype-associated
VAR_005511 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005513 commonName VAR_005513
VAR_005513 disease phenotype-associated
VAR_005513 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005514 commonName VAR_005514
VAR_005514 disease phenotype-associated
VAR_005514 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005515 commonName VAR_005515
VAR_005515 disease phenotype-associated
VAR_005515 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005516 commonName VAR_005516
VAR_005516 disease phenotype-associated
VAR_005516 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005517 commonName VAR_005517
VAR_005517 disease phenotype-associated
VAR_005517 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005518 commonName VAR_005518
VAR_005518 disease phenotype-associated
VAR_005518 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005520 commonName VAR_005520
VAR_005520 disease phenotype-associated
VAR_005520 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_005521 commonName VAR_005521
VAR_005521 disease not phenotype-associated
VAR_005522 commonName VAR_005522
VAR_005522 disease not phenotype-associated
VAR_005524 commonName VAR_005524
VAR_005524 disease not phenotype-associated
VAR_005527 commonName VAR_005527
VAR_005528 commonName VAR_005528
VAR_005528 disease phenotype-associated
VAR_005528 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
VAR_005529 commonName VAR_005529
VAR_005529 disease phenotype-associated
VAR_005529 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
VAR_005530 commonName VAR_005530
VAR_005530 disease phenotype-associated
VAR_005530 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
VAR_005531 commonName VAR_005531
VAR_005531 disease phenotype-associated
VAR_005531 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_005532 commonName VAR_005532
VAR_005532 disease phenotype-associated
VAR_005532 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_005533 commonName VAR_005533
VAR_005533 disease not phenotype-associated
VAR_005535 commonName VAR_005535
VAR_005535 disease phenotype-associated
VAR_005535 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005536 commonName VAR_005536
VAR_005536 disease not phenotype-associated
VAR_005537 commonName VAR_005537
VAR_005538 commonName VAR_005538
VAR_005538 disease phenotype-associated
VAR_005538 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005539 commonName VAR_005539
VAR_005539 disease phenotype-associated
VAR_005539 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005541 commonName VAR_005541
VAR_005541 disease phenotype-associated
VAR_005541 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005542 commonName VAR_005542
VAR_005542 disease phenotype-associated
VAR_005542 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005543 commonName VAR_005543
VAR_005543 disease phenotype-associated
VAR_005543 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005545 commonName VAR_005545
VAR_005545 disease phenotype-associated
VAR_005545 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_005546 commonName VAR_005546
VAR_005546 disease not phenotype-associated
VAR_005547 commonName VAR_005547
VAR_005547 disease not phenotype-associated
VAR_005548 commonName VAR_005548
VAR_005548 disease phenotype-associated
VAR_005548 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005549 commonName VAR_005549
VAR_005549 disease phenotype-associated
VAR_005549 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005550 commonName VAR_005550
VAR_005550 disease phenotype-associated
VAR_005550 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005551 commonName VAR_005551
VAR_005551 disease phenotype-associated
VAR_005551 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005552 commonName VAR_005552
VAR_005552 disease phenotype-associated
VAR_005552 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005553 commonName VAR_005553
VAR_005553 disease phenotype-associated
VAR_005553 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005554 commonName VAR_005554
VAR_005554 disease not phenotype-associated
VAR_005555 commonName VAR_005555
VAR_005555 disease phenotype-associated
VAR_005555 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005556 commonName VAR_005556
VAR_005556 disease phenotype-associated
VAR_005556 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005557 commonName VAR_005557
VAR_005557 disease phenotype-associated
VAR_005557 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005558 commonName VAR_005558
VAR_005558 disease phenotype-associated
VAR_005558 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005559 commonName VAR_005559
VAR_005559 disease phenotype-associated
VAR_005559 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005560 commonName VAR_005560
VAR_005560 disease phenotype-associated
VAR_005560 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_005563 commonName VAR_005563
VAR_005563 disease not phenotype-associated
VAR_005564 commonName VAR_005564
VAR_005564 disease not phenotype-associated
VAR_005565 commonName VAR_005565
VAR_005565 disease not phenotype-associated
VAR_005566 commonName VAR_005566
VAR_005566 disease phenotype-associated
VAR_005566 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_005567 commonName VAR_005567
VAR_005567 disease phenotype-associated
VAR_005567 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_005568 commonName VAR_005568
VAR_005569 commonName VAR_005569
VAR_005569 disease not phenotype-associated
VAR_005570 commonName VAR_005570
VAR_005570 disease phenotype-associated
VAR_005570 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_005571 commonName VAR_005571
VAR_005571 disease phenotype-associated
VAR_005571 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_005572 commonName VAR_005572
VAR_005572 disease phenotype-associated
VAR_005572 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005573 commonName VAR_005573
VAR_005573 disease phenotype-associated
VAR_005573 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005574 commonName VAR_005574
VAR_005574 disease phenotype-associated
VAR_005574 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005575 commonName VAR_005575
VAR_005575 disease phenotype-associated
VAR_005575 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005576 commonName VAR_005576
VAR_005576 disease phenotype-associated
VAR_005576 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005578 commonName VAR_005578
VAR_005578 disease phenotype-associated
VAR_005578 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005579 commonName VAR_005579
VAR_005579 disease phenotype-associated
VAR_005579 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005580 commonName VAR_005580
VAR_005580 disease phenotype-associated
VAR_005580 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005581 commonName VAR_005581
VAR_005581 disease phenotype-associated
VAR_005581 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005582 commonName VAR_005582
VAR_005582 disease phenotype-associated
VAR_005582 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005583 commonName VAR_005583
VAR_005583 disease phenotype-associated
VAR_005583 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005584 commonName VAR_005584
VAR_005584 disease phenotype-associated
VAR_005584 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005585 commonName VAR_005585
VAR_005585 disease phenotype-associated
VAR_005585 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005586 commonName VAR_005586
VAR_005586 disease phenotype-associated
VAR_005586 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005587 commonName VAR_005587
VAR_005587 disease phenotype-associated
VAR_005587 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005588 commonName VAR_005588
VAR_005588 disease phenotype-associated
VAR_005588 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_005589 commonName VAR_005589
VAR_005589 disease phenotype-associated
VAR_005589 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005590 commonName VAR_005590
VAR_005590 disease phenotype-associated
VAR_005590 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005590 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005591 commonName VAR_005591
VAR_005592 commonName VAR_005592
VAR_005592 disease phenotype-associated
VAR_005592 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005593 commonName VAR_005593
VAR_005593 disease phenotype-associated
VAR_005593 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005593 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005594 commonName VAR_005594
VAR_005594 disease not phenotype-associated
VAR_005595 commonName VAR_005595
VAR_005595 disease phenotype-associated
VAR_005595 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005595 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005596 commonName VAR_005596
VAR_005596 disease phenotype-associated
VAR_005596 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005597 commonName VAR_005597
VAR_005597 disease phenotype-associated
VAR_005597 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005597 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005598 commonName VAR_005598
VAR_005598 disease phenotype-associated
VAR_005598 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005599 commonName VAR_005599
VAR_005599 disease not phenotype-associated
VAR_005600 commonName VAR_005600
VAR_005600 disease not phenotype-associated
VAR_005601 commonName VAR_005601
VAR_005601 disease phenotype-associated
VAR_005601 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005602 commonName VAR_005602
VAR_005602 disease phenotype-associated
VAR_005602 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005602 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005603 commonName VAR_005603
VAR_005603 disease phenotype-associated
VAR_005603 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005603 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005604 commonName VAR_005604
VAR_005604 disease phenotype-associated
VAR_005604 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005605 commonName VAR_005605
VAR_005605 disease phenotype-associated
VAR_005605 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005606 commonName VAR_005606
VAR_005606 disease phenotype-associated
VAR_005606 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_005606 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_005609 commonName VAR_005609
VAR_005609 disease phenotype-associated
VAR_005609 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_005610 commonName VAR_005610
VAR_005610 disease not phenotype-associated
VAR_005612 commonName VAR_005612
VAR_005612 disease phenotype-associated
VAR_005612 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_005613 commonName VAR_005613
VAR_005613 disease phenotype-associated
VAR_005613 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_005614 commonName VAR_005614
VAR_005614 disease phenotype-associated
VAR_005614 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_005615 commonName VAR_005615
VAR_005615 disease phenotype-associated
VAR_005615 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]
VAR_005615 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_005616 commonName VAR_005616
VAR_005616 disease phenotype-associated
VAR_005616 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_005617 commonName VAR_005617
VAR_005617 disease phenotype-associated
VAR_005617 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]
VAR_005618 commonName VAR_005618
VAR_005618 disease phenotype-associated
VAR_005618 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]
VAR_005618 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_005619 commonName VAR_005619
VAR_005619 disease phenotype-associated
VAR_005619 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_005620 commonName VAR_005620
VAR_005620 disease phenotype-associated
VAR_005620 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]
VAR_005621 commonName VAR_005621
VAR_005621 disease not phenotype-associated
VAR_005622 commonName VAR_005622
VAR_005623 commonName VAR_005623
VAR_005623 disease not phenotype-associated
VAR_005625 commonName VAR_005625
VAR_005625 disease not phenotype-associated
VAR_005626 commonName VAR_005626
VAR_005626 disease not phenotype-associated
VAR_005627 commonName VAR_005627
VAR_005627 disease phenotype-associated
VAR_005627 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_005628 commonName VAR_005628
VAR_005628 disease not phenotype-associated
VAR_005629 commonName VAR_005629
VAR_005629 disease not phenotype-associated
VAR_005630 commonName VAR_005630
VAR_005630 disease phenotype-associated
VAR_005630 phenoCommon Treacher Collins syndrome type 1 (TCS1) [MIM:154500]
VAR_005631 commonName VAR_005631
VAR_005631 disease not phenotype-associated
VAR_005632 commonName VAR_005632
VAR_005632 disease not phenotype-associated
VAR_005633 commonName VAR_005633
VAR_005633 disease not phenotype-associated
VAR_005634 commonName VAR_005634
VAR_005634 disease not phenotype-associated
VAR_005635 commonName VAR_005635
VAR_005635 disease not phenotype-associated
VAR_005636 commonName VAR_005636
VAR_005636 disease not phenotype-associated
VAR_005637 commonName VAR_005637
VAR_005637 disease phenotype-associated
VAR_005637 phenoCommon Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]
VAR_005638 commonName VAR_005638
VAR_005638 disease phenotype-associated
VAR_005638 phenoCommon Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]
VAR_005639 commonName VAR_005639
VAR_005639 disease not phenotype-associated
VAR_005642 commonName VAR_005642
VAR_005642 disease not phenotype-associated
VAR_005646 commonName VAR_005646
VAR_005646 disease phenotype-associated
VAR_005646 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005647 commonName VAR_005647
VAR_005647 disease phenotype-associated
VAR_005647 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005648 commonName VAR_005648
VAR_005648 disease phenotype-associated
VAR_005648 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005649 commonName VAR_005649
VAR_005649 disease not phenotype-associated
VAR_005650 commonName VAR_005650
VAR_005650 disease phenotype-associated
VAR_005650 phenoCommon Lymphangioleiomyomatosis (LAM) [MIM:606690]
VAR_005650 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005651 commonName VAR_005651
VAR_005651 disease phenotype-associated
VAR_005651 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005652 commonName VAR_005652
VAR_005652 disease phenotype-associated
VAR_005652 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005653 commonName VAR_005653
VAR_005653 disease phenotype-associated
VAR_005653 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005654 commonName VAR_005654
VAR_005654 disease phenotype-associated
VAR_005654 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005655 commonName VAR_005655
VAR_005655 disease phenotype-associated
VAR_005655 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005656 commonName VAR_005656
VAR_005656 disease phenotype-associated
VAR_005656 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005657 commonName VAR_005657
VAR_005657 disease phenotype-associated
VAR_005657 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005658 commonName VAR_005658
VAR_005658 disease phenotype-associated
VAR_005658 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005659 commonName VAR_005659
VAR_005659 disease phenotype-associated
VAR_005659 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005661 commonName VAR_005661
VAR_005661 disease phenotype-associated
VAR_005661 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005663 commonName VAR_005663
VAR_005663 disease phenotype-associated
VAR_005663 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005664 commonName VAR_005664
VAR_005664 disease phenotype-associated
VAR_005664 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005665 commonName VAR_005665
VAR_005665 disease phenotype-associated
VAR_005665 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005666 commonName VAR_005666
VAR_005666 disease phenotype-associated
VAR_005666 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005667 commonName VAR_005667
VAR_005667 disease phenotype-associated
VAR_005667 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_005668 commonName VAR_005668
VAR_005668 disease phenotype-associated
VAR_005668 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_005670 commonName VAR_005670
VAR_005670 disease phenotype-associated
VAR_005670 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005671 commonName VAR_005671
VAR_005671 disease phenotype-associated
VAR_005671 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005672 commonName VAR_005672
VAR_005672 disease phenotype-associated
VAR_005672 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005673 commonName VAR_005673
VAR_005673 disease phenotype-associated
VAR_005673 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005675 commonName VAR_005675
VAR_005675 disease phenotype-associated
VAR_005675 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005675 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005676 commonName VAR_005676
VAR_005676 disease phenotype-associated
VAR_005676 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005677 commonName VAR_005677
VAR_005677 disease phenotype-associated
VAR_005677 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005679 commonName VAR_005679
VAR_005679 disease phenotype-associated
VAR_005679 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005680 commonName VAR_005680
VAR_005680 disease phenotype-associated
VAR_005680 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005681 commonName VAR_005681
VAR_005681 disease phenotype-associated
VAR_005681 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005682 commonName VAR_005682
VAR_005682 disease phenotype-associated
VAR_005682 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005683 commonName VAR_005683
VAR_005683 disease phenotype-associated
VAR_005683 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005684 commonName VAR_005684
VAR_005684 disease phenotype-associated
VAR_005684 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005685 commonName VAR_005685
VAR_005685 disease phenotype-associated
VAR_005685 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005686 commonName VAR_005686
VAR_005686 disease phenotype-associated
VAR_005686 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005687 commonName VAR_005687
VAR_005687 disease phenotype-associated
VAR_005687 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005688 commonName VAR_005688
VAR_005688 disease phenotype-associated
VAR_005688 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005688 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005689 commonName VAR_005689
VAR_005689 disease phenotype-associated
VAR_005689 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005690 commonName VAR_005690
VAR_005690 disease phenotype-associated
VAR_005690 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005692 commonName VAR_005692
VAR_005692 disease phenotype-associated
VAR_005692 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005693 commonName VAR_005693
VAR_005693 disease phenotype-associated
VAR_005693 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005694 commonName VAR_005694
VAR_005694 disease phenotype-associated
VAR_005694 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005695 commonName VAR_005695
VAR_005695 disease phenotype-associated
VAR_005695 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005696 commonName VAR_005696
VAR_005696 disease phenotype-associated
VAR_005696 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005697 commonName VAR_005697
VAR_005697 disease phenotype-associated
VAR_005697 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005698 commonName VAR_005698
VAR_005698 disease phenotype-associated
VAR_005698 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005699 comment Lung cancer
VAR_005699 commonName VAR_005699
VAR_005700 commonName VAR_005700
VAR_005700 disease phenotype-associated
VAR_005700 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005701 commonName VAR_005701
VAR_005703 commonName VAR_005703
VAR_005703 disease phenotype-associated
VAR_005703 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005703 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005704 commonName VAR_005704
VAR_005704 disease phenotype-associated
VAR_005704 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005705 commonName VAR_005705
VAR_005705 disease phenotype-associated
VAR_005705 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005705 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005706 commonName VAR_005706
VAR_005706 disease phenotype-associated
VAR_005706 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005707 commonName VAR_005707
VAR_005707 disease phenotype-associated
VAR_005707 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005707 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005708 commonName VAR_005708
VAR_005708 disease phenotype-associated
VAR_005708 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005709 commonName VAR_005709
VAR_005709 disease phenotype-associated
VAR_005709 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005710 commonName VAR_005710
VAR_005711 commonName VAR_005711
VAR_005711 disease phenotype-associated
VAR_005711 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005712 comment Lung cancer
VAR_005712 commonName VAR_005712
VAR_005713 commonName VAR_005713
VAR_005713 disease phenotype-associated
VAR_005713 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005714 commonName VAR_005714
VAR_005714 disease phenotype-associated
VAR_005714 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005715 commonName VAR_005715
VAR_005715 disease phenotype-associated
VAR_005715 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005716 commonName VAR_005716
VAR_005716 disease phenotype-associated
VAR_005716 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005717 commonName VAR_005717
VAR_005717 disease phenotype-associated
VAR_005717 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005718 commonName VAR_005718
VAR_005718 disease phenotype-associated
VAR_005718 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005719 commonName VAR_005719
VAR_005719 disease phenotype-associated
VAR_005719 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005720 commonName VAR_005720
VAR_005720 disease phenotype-associated
VAR_005720 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005722 commonName VAR_005722
VAR_005722 disease phenotype-associated
VAR_005722 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005723 commonName VAR_005723
VAR_005723 disease phenotype-associated
VAR_005723 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005724 commonName VAR_005724
VAR_005724 disease phenotype-associated
VAR_005724 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005725 commonName VAR_005725
VAR_005725 disease phenotype-associated
VAR_005725 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005726 commonName VAR_005726
VAR_005726 disease phenotype-associated
VAR_005726 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005727 commonName VAR_005727
VAR_005727 disease phenotype-associated
VAR_005727 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005728 commonName VAR_005728
VAR_005728 disease phenotype-associated
VAR_005728 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005728 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005729 commonName VAR_005729
VAR_005729 disease phenotype-associated
VAR_005729 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005730 commonName VAR_005730
VAR_005730 disease phenotype-associated
VAR_005730 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005731 commonName VAR_005731
VAR_005731 disease phenotype-associated
VAR_005731 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005733 commonName VAR_005733
VAR_005733 disease phenotype-associated
VAR_005733 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_005733 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005734 commonName VAR_005734
VAR_005734 disease phenotype-associated
VAR_005734 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005735 commonName VAR_005735
VAR_005735 disease phenotype-associated
VAR_005735 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005736 commonName VAR_005736
VAR_005736 disease phenotype-associated
VAR_005736 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005737 commonName VAR_005737
VAR_005737 disease phenotype-associated
VAR_005737 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005737 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005738 commonName VAR_005738
VAR_005738 disease phenotype-associated
VAR_005738 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005740 commonName VAR_005740
VAR_005740 disease phenotype-associated
VAR_005740 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005741 commonName VAR_005741
VAR_005741 disease phenotype-associated
VAR_005741 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005742 commonName VAR_005742
VAR_005742 disease phenotype-associated
VAR_005742 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005743 commonName VAR_005743
VAR_005743 disease phenotype-associated
VAR_005743 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005743 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005744 commonName VAR_005744
VAR_005744 disease phenotype-associated
VAR_005744 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005746 commonName VAR_005746
VAR_005746 disease phenotype-associated
VAR_005746 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005748 commonName VAR_005748
VAR_005748 disease phenotype-associated
VAR_005748 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005749 commonName VAR_005749
VAR_005749 disease phenotype-associated
VAR_005749 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005750 commonName VAR_005750
VAR_005750 disease phenotype-associated
VAR_005750 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005751 commonName VAR_005751
VAR_005751 disease phenotype-associated
VAR_005751 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005751 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005752 commonName VAR_005752
VAR_005752 disease phenotype-associated
VAR_005752 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005752 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005753 commonName VAR_005753
VAR_005753 disease phenotype-associated
VAR_005753 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005754 commonName VAR_005754
VAR_005754 disease phenotype-associated
VAR_005754 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005755 commonName VAR_005755
VAR_005755 disease phenotype-associated
VAR_005755 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005756 commonName VAR_005756
VAR_005756 disease phenotype-associated
VAR_005756 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005757 commonName VAR_005757
VAR_005757 disease phenotype-associated
VAR_005757 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005758 commonName VAR_005758
VAR_005758 disease phenotype-associated
VAR_005758 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005759 commonName VAR_005759
VAR_005759 disease phenotype-associated
VAR_005759 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005760 commonName VAR_005760
VAR_005760 disease phenotype-associated
VAR_005760 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005761 commonName VAR_005761
VAR_005761 disease phenotype-associated
VAR_005761 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005761 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005762 commonName VAR_005762
VAR_005762 disease phenotype-associated
VAR_005762 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005762 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005763 commonName VAR_005763
VAR_005763 disease phenotype-associated
VAR_005763 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005764 commonName VAR_005764
VAR_005764 disease phenotype-associated
VAR_005764 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005765 commonName VAR_005765
VAR_005765 disease phenotype-associated
VAR_005765 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005766 commonName VAR_005766
VAR_005766 disease phenotype-associated
VAR_005766 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005768 commonName VAR_005768
VAR_005768 disease phenotype-associated
VAR_005768 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005769 commonName VAR_005769
VAR_005769 disease phenotype-associated
VAR_005769 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005770 commonName VAR_005770
VAR_005770 disease phenotype-associated
VAR_005770 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005771 commonName VAR_005771
VAR_005771 disease phenotype-associated
VAR_005771 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005772 commonName VAR_005772
VAR_005772 disease phenotype-associated
VAR_005772 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005773 commonName VAR_005773
VAR_005773 disease phenotype-associated
VAR_005773 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005775 commonName VAR_005775
VAR_005775 disease phenotype-associated
VAR_005775 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005776 commonName VAR_005776
VAR_005776 disease phenotype-associated
VAR_005776 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005777 commonName VAR_005777
VAR_005777 disease phenotype-associated
VAR_005777 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_005777 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_005777 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005778 commonName VAR_005778
VAR_005778 disease phenotype-associated
VAR_005778 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005779 commonName VAR_005779
VAR_005779 disease phenotype-associated
VAR_005779 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_005779 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_005780 commonName VAR_005780
VAR_005780 disease not phenotype-associated
VAR_005781 commonName VAR_005781
VAR_005781 disease phenotype-associated
VAR_005781 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]
VAR_005782 commonName VAR_005782
VAR_005782 disease phenotype-associated
VAR_005782 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_005783 commonName VAR_005783
VAR_005783 disease phenotype-associated
VAR_005783 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005784 commonName VAR_005784
VAR_005784 disease phenotype-associated
VAR_005784 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005785 commonName VAR_005785
VAR_005785 disease not phenotype-associated
VAR_005786 commonName VAR_005786
VAR_005786 disease phenotype-associated
VAR_005786 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005787 commonName VAR_005787
VAR_005787 disease phenotype-associated
VAR_005787 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005788 commonName VAR_005788
VAR_005788 disease not phenotype-associated
VAR_005789 commonName VAR_005789
VAR_005789 disease phenotype-associated
VAR_005789 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005790 commonName VAR_005790
VAR_005790 disease not phenotype-associated
VAR_005791 commonName VAR_005791
VAR_005791 disease phenotype-associated
VAR_005791 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005792 commonName VAR_005792
VAR_005792 disease phenotype-associated
VAR_005792 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005793 commonName VAR_005793
VAR_005793 disease phenotype-associated
VAR_005793 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005794 commonName VAR_005794
VAR_005794 disease phenotype-associated
VAR_005794 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005795 commonName VAR_005795
VAR_005795 disease phenotype-associated
VAR_005795 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005796 commonName VAR_005796
VAR_005796 disease phenotype-associated
VAR_005796 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005797 commonName VAR_005797
VAR_005797 disease phenotype-associated
VAR_005797 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005798 commonName VAR_005798
VAR_005798 disease phenotype-associated
VAR_005798 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005799 commonName VAR_005799
VAR_005799 disease phenotype-associated
VAR_005799 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005800 commonName VAR_005800
VAR_005800 disease phenotype-associated
VAR_005800 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005801 commonName VAR_005801
VAR_005801 disease phenotype-associated
VAR_005801 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005802 commonName VAR_005802
VAR_005802 disease phenotype-associated
VAR_005802 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005803 commonName VAR_005803
VAR_005803 disease phenotype-associated
VAR_005803 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005804 commonName VAR_005804
VAR_005804 disease not phenotype-associated
VAR_005805 commonName VAR_005805
VAR_005805 disease not phenotype-associated
VAR_005806 commonName VAR_005806
VAR_005806 disease phenotype-associated
VAR_005806 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005807 commonName VAR_005807
VAR_005807 disease phenotype-associated
VAR_005807 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005808 commonName VAR_005808
VAR_005808 disease phenotype-associated
VAR_005808 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005809 commonName VAR_005809
VAR_005809 disease phenotype-associated
VAR_005809 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005810 commonName VAR_005810
VAR_005810 disease not phenotype-associated
VAR_005811 commonName VAR_005811
VAR_005811 disease phenotype-associated
VAR_005811 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005812 commonName VAR_005812
VAR_005812 disease phenotype-associated
VAR_005812 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005813 commonName VAR_005813
VAR_005813 disease phenotype-associated
VAR_005813 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005814 commonName VAR_005814
VAR_005814 disease phenotype-associated
VAR_005814 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005815 commonName VAR_005815
VAR_005815 disease phenotype-associated
VAR_005815 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005816 commonName VAR_005816
VAR_005816 disease phenotype-associated
VAR_005816 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005817 commonName VAR_005817
VAR_005817 disease phenotype-associated
VAR_005817 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005818 commonName VAR_005818
VAR_005818 disease phenotype-associated
VAR_005818 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005819 commonName VAR_005819
VAR_005819 disease phenotype-associated
VAR_005819 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005820 commonName VAR_005820
VAR_005820 disease phenotype-associated
VAR_005820 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005821 commonName VAR_005821
VAR_005821 disease phenotype-associated
VAR_005821 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_005822 commonName VAR_005822
VAR_005822 disease phenotype-associated
VAR_005822 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_005823 commonName VAR_005823
VAR_005823 disease phenotype-associated
VAR_005823 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005825 commonName VAR_005825
VAR_005825 disease phenotype-associated
VAR_005825 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005826 commonName VAR_005826
VAR_005826 disease phenotype-associated
VAR_005826 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005827 commonName VAR_005827
VAR_005827 disease phenotype-associated
VAR_005827 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005828 commonName VAR_005828
VAR_005828 disease phenotype-associated
VAR_005828 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005829 commonName VAR_005829
VAR_005829 disease phenotype-associated
VAR_005829 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005830 commonName VAR_005830
VAR_005830 disease phenotype-associated
VAR_005830 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005831 commonName VAR_005831
VAR_005831 disease phenotype-associated
VAR_005831 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005832 commonName VAR_005832
VAR_005832 disease phenotype-associated
VAR_005832 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005833 commonName VAR_005833
VAR_005833 disease phenotype-associated
VAR_005833 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005834 commonName VAR_005834
VAR_005834 disease phenotype-associated
VAR_005834 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005835 commonName VAR_005835
VAR_005835 disease phenotype-associated
VAR_005835 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005836 commonName VAR_005836
VAR_005836 disease phenotype-associated
VAR_005836 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005837 commonName VAR_005837
VAR_005837 disease phenotype-associated
VAR_005837 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005838 commonName VAR_005838
VAR_005838 disease phenotype-associated
VAR_005838 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_005839 commonName VAR_005839
VAR_005839 disease phenotype-associated
VAR_005839 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_005840 commonName VAR_005840
VAR_005840 disease not phenotype-associated
VAR_005841 commonName VAR_005841
VAR_005841 disease not phenotype-associated
VAR_005842 commonName VAR_005842
VAR_005842 disease phenotype-associated
VAR_005842 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_005843 commonName VAR_005843
VAR_005843 disease not phenotype-associated
VAR_005844 commonName VAR_005844
VAR_005844 disease phenotype-associated
VAR_005844 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_005846 commonName VAR_005846
VAR_005846 disease phenotype-associated
VAR_005846 phenoCommon Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]
VAR_005851 comment A sporadic cancer
VAR_005851 commonName VAR_005851
VAR_005852 comment Sporadic cancers
VAR_005852 commonName VAR_005852
VAR_005853 comment A sporadic cancer
VAR_005853 commonName VAR_005853
VAR_005854 comment Sporadic cancers
VAR_005854 commonName VAR_005854
VAR_005855 comment A sporadic cancer
VAR_005855 commonName VAR_005855
VAR_005856 commonName VAR_005856
VAR_005856 disease not phenotype-associated
VAR_005857 comment A sporadic cancer
VAR_005857 commonName VAR_005857
VAR_005858 comment Sporadic cancers
VAR_005858 commonName VAR_005858
VAR_005859 comment Sporadic cancers
VAR_005859 commonName VAR_005859
VAR_005860 comment Sporadic cancers
VAR_005860 commonName VAR_005860
VAR_005861 comment A familial cancer not matching LFS
VAR_005861 commonName VAR_005861
VAR_005862 comment Sporadic cancers
VAR_005862 commonName VAR_005862
VAR_005863 comment Sporadic cancers
VAR_005863 commonName VAR_005863
VAR_005864 comment Sporadic cancers
VAR_005864 commonName VAR_005864
VAR_005865 comment Sporadic cancers
VAR_005865 commonName VAR_005865
VAR_005866 comment Sporadic cancers
VAR_005866 commonName VAR_005866
VAR_005867 comment Sporadic cancers
VAR_005867 commonName VAR_005867
VAR_005868 comment Sporadic cancers
VAR_005868 commonName VAR_005868
VAR_005869 comment Sporadic cancers
VAR_005869 commonName VAR_005869
VAR_005870 comment Sporadic cancers
VAR_005870 commonName VAR_005870
VAR_005871 comment Sporadic cancers
VAR_005871 commonName VAR_005871
VAR_005872 comment Sporadic cancers
VAR_005872 commonName VAR_005872
VAR_005873 comment Sporadic cancers
VAR_005873 commonName VAR_005873
VAR_005874 comment Sporadic cancers
VAR_005874 commonName VAR_005874
VAR_005875 commonName VAR_005875
VAR_005875 disease phenotype-associated
VAR_005875 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005876 comment Sporadic cancers
VAR_005876 commonName VAR_005876
VAR_005877 comment Sporadic cancers
VAR_005877 commonName VAR_005877
VAR_005878 comment Sporadic cancers
VAR_005878 commonName VAR_005878
VAR_005879 comment A sporadic cancer
VAR_005879 commonName VAR_005879
VAR_005880 comment Sporadic cancers
VAR_005880 commonName VAR_005880
VAR_005881 commonName VAR_005881
VAR_005881 disease phenotype-associated
VAR_005881 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005882 comment Sporadic cancers
VAR_005882 commonName VAR_005882
VAR_005884 comment Sporadic cancers
VAR_005884 commonName VAR_005884
VAR_005885 comment Sporadic cancers
VAR_005885 commonName VAR_005885
VAR_005886 commonName VAR_005886
VAR_005886 disease phenotype-associated
VAR_005886 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005887 comment Sporadic cancers
VAR_005887 commonName VAR_005887
VAR_005888 comment Sporadic cancers
VAR_005888 commonName VAR_005888
VAR_005889 comment Sporadic cancers
VAR_005889 commonName VAR_005889
VAR_005890 comment Sporadic cancers
VAR_005890 commonName VAR_005890
VAR_005891 comment Sporadic cancers
VAR_005891 commonName VAR_005891
VAR_005892 comment Sporadic cancers
VAR_005892 commonName VAR_005892
VAR_005893 comment Sporadic cancers
VAR_005893 commonName VAR_005893
VAR_005894 comment Sporadic cancers
VAR_005894 commonName VAR_005894
VAR_005895 commonName VAR_005895
VAR_005895 disease phenotype-associated
VAR_005895 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005896 commonName VAR_005896
VAR_005896 disease phenotype-associated
VAR_005896 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005897 commonName VAR_005897
VAR_005897 disease phenotype-associated
VAR_005897 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005898 comment Sporadic cancers
VAR_005898 commonName VAR_005898
VAR_005899 comment Sporadic cancers
VAR_005899 commonName VAR_005899
VAR_005900 comment A brain tumor with no family history
VAR_005900 commonName VAR_005900
VAR_005901 comment Sporadic cancers
VAR_005901 commonName VAR_005901
VAR_005902 comment Sporadic cancers
VAR_005902 commonName VAR_005902
VAR_005903 comment Sporadic cancers
VAR_005903 commonName VAR_005903
VAR_005904 comment Sporadic cancers
VAR_005904 commonName VAR_005904
VAR_005905 comment Sporadic cancers
VAR_005905 commonName VAR_005905
VAR_005906 commonName VAR_005906
VAR_005906 disease phenotype-associated
VAR_005906 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005907 commonName VAR_005907
VAR_005907 disease phenotype-associated
VAR_005907 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005908 comment Sporadic cancers
VAR_005908 commonName VAR_005908
VAR_005909 comment Sporadic cancers
VAR_005909 commonName VAR_005909
VAR_005910 comment Sporadic cancers
VAR_005910 commonName VAR_005910
VAR_005911 comment Sporadic cancers
VAR_005911 commonName VAR_005911
VAR_005912 comment Sporadic cancers
VAR_005912 commonName VAR_005912
VAR_005913 comment Sporadic cancers
VAR_005913 commonName VAR_005913
VAR_005914 comment Sporadic cancers
VAR_005914 commonName VAR_005914
VAR_005915 comment Sporadic cancers
VAR_005915 commonName VAR_005915
VAR_005916 comment Sporadic cancers
VAR_005916 commonName VAR_005916
VAR_005917 comment Sporadic cancers
VAR_005917 commonName VAR_005917
VAR_005918 comment Sporadic cancers
VAR_005918 commonName VAR_005918
VAR_005919 comment Sporadic cancers
VAR_005919 commonName VAR_005919
VAR_005920 comment Sporadic cancers
VAR_005920 commonName VAR_005920
VAR_005921 comment Sporadic cancers
VAR_005921 commonName VAR_005921
VAR_005922 comment Sporadic cancers
VAR_005922 commonName VAR_005922
VAR_005923 comment Sporadic cancers
VAR_005923 commonName VAR_005923
VAR_005924 comment Sporadic cancers
VAR_005924 commonName VAR_005924
VAR_005925 comment Sporadic cancers
VAR_005925 commonName VAR_005925
VAR_005926 commonName VAR_005926
VAR_005926 disease phenotype-associated
VAR_005926 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005927 comment Sporadic cancers
VAR_005927 commonName VAR_005927
VAR_005928 comment Sporadic cancers
VAR_005928 commonName VAR_005928
VAR_005929 commonName VAR_005929
VAR_005929 disease phenotype-associated
VAR_005929 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005930 commonName VAR_005930
VAR_005930 disease phenotype-associated
VAR_005930 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005931 comment Sporadic cancers
VAR_005931 commonName VAR_005931
VAR_005932 commonName VAR_005932
VAR_005932 disease phenotype-associated
VAR_005932 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005933 comment Sporadic cancers
VAR_005933 commonName VAR_005933
VAR_005934 comment Sporadic cancers
VAR_005934 commonName VAR_005934
VAR_005935 comment Sporadic cancers
VAR_005935 commonName VAR_005935
VAR_005937 comment A familial cancer not matching LFS
VAR_005937 commonName VAR_005937
VAR_005938 comment Sporadic cancers
VAR_005938 commonName VAR_005938
VAR_005939 comment Sporadic cancers
VAR_005939 commonName VAR_005939
VAR_005940 comment A sporadic cancer
VAR_005940 commonName VAR_005940
VAR_005941 comment Sporadic cancers
VAR_005941 commonName VAR_005941
VAR_005942 comment Sporadic cancers
VAR_005942 commonName VAR_005942
VAR_005943 comment Sporadic cancers
VAR_005943 commonName VAR_005943
VAR_005944 comment Sporadic cancers
VAR_005944 commonName VAR_005944
VAR_005945 comment Sporadic cancers
VAR_005945 commonName VAR_005945
VAR_005946 comment Sporadic cancers
VAR_005946 commonName VAR_005946
VAR_005947 comment Sporadic cancers
VAR_005947 commonName VAR_005947
VAR_005948 commonName VAR_005948
VAR_005948 disease phenotype-associated
VAR_005948 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005949 comment Sporadic cancers
VAR_005949 commonName VAR_005949
VAR_005950 comment Sporadic cancers
VAR_005950 commonName VAR_005950
VAR_005951 comment Sporadic cancers
VAR_005951 commonName VAR_005951
VAR_005952 comment Sporadic cancers
VAR_005952 commonName VAR_005952
VAR_005953 comment Sporadic cancers
VAR_005953 commonName VAR_005953
VAR_005954 comment Sporadic cancers
VAR_005954 commonName VAR_005954
VAR_005955 commonName VAR_005955
VAR_005955 disease phenotype-associated
VAR_005955 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005956 comment Sporadic cancers
VAR_005956 commonName VAR_005956
VAR_005957 commonName VAR_005957
VAR_005957 disease phenotype-associated
VAR_005957 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005958 comment Sporadic cancers
VAR_005958 commonName VAR_005958
VAR_005959 comment A brain tumor with no family history
VAR_005959 commonName VAR_005959
VAR_005960 comment Sporadic cancers
VAR_005960 commonName VAR_005960
VAR_005961 comment Sporadic cancers
VAR_005961 commonName VAR_005961
VAR_005962 comment Sporadic cancers
VAR_005962 commonName VAR_005962
VAR_005963 commonName VAR_005963
VAR_005963 disease phenotype-associated
VAR_005963 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005964 comment Sporadic cancers
VAR_005964 commonName VAR_005964
VAR_005965 commonName VAR_005965
VAR_005965 disease phenotype-associated
VAR_005965 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005966 comment Sporadic cancers
VAR_005966 commonName VAR_005966
VAR_005967 comment A familial cancer not matching LFS
VAR_005967 commonName VAR_005967
VAR_005968 comment Sporadic cancers
VAR_005968 commonName VAR_005968
VAR_005969 commonName VAR_005969
VAR_005969 disease phenotype-associated
VAR_005969 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005970 comment Sporadic cancers
VAR_005970 commonName VAR_005970
VAR_005971 comment Sporadic cancers
VAR_005971 commonName VAR_005971
VAR_005972 commonName VAR_005972
VAR_005972 disease phenotype-associated
VAR_005972 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005973 commonName VAR_005973
VAR_005973 disease phenotype-associated
VAR_005973 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005974 commonName VAR_005974
VAR_005974 disease phenotype-associated
VAR_005974 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005975 commonName VAR_005975
VAR_005975 disease phenotype-associated
VAR_005975 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005976 comment Sporadic cancers
VAR_005976 commonName VAR_005976
VAR_005977 comment Sporadic cancers
VAR_005977 commonName VAR_005977
VAR_005978 commonName VAR_005978
VAR_005978 disease phenotype-associated
VAR_005978 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005980 comment Sporadic cancers
VAR_005980 commonName VAR_005980
VAR_005981 comment Sporadic cancers
VAR_005981 commonName VAR_005981
VAR_005982 comment Sporadic cancers
VAR_005982 commonName VAR_005982
VAR_005983 commonName VAR_005983
VAR_005983 disease phenotype-associated
VAR_005983 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005984 commonName VAR_005984
VAR_005984 disease phenotype-associated
VAR_005984 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005985 comment Sporadic cancers
VAR_005985 commonName VAR_005985
VAR_005986 comment Sporadic cancers
VAR_005986 commonName VAR_005986
VAR_005987 comment Sporadic cancers
VAR_005987 commonName VAR_005987
VAR_005988 commonName VAR_005988
VAR_005988 disease phenotype-associated
VAR_005988 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005989 comment Sporadic cancers
VAR_005989 commonName VAR_005989
VAR_005990 comment Sporadic cancers
VAR_005990 commonName VAR_005990
VAR_005991 commonName VAR_005991
VAR_005991 disease phenotype-associated
VAR_005991 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005992 commonName VAR_005992
VAR_005992 disease phenotype-associated
VAR_005992 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005993 commonName VAR_005993
VAR_005993 disease phenotype-associated
VAR_005993 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005994 commonName VAR_005994
VAR_005994 disease phenotype-associated
VAR_005994 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005995 commonName VAR_005995
VAR_005995 disease phenotype-associated
VAR_005995 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005997 comment Sporadic cancers
VAR_005997 commonName VAR_005997
VAR_005998 commonName VAR_005998
VAR_005998 disease phenotype-associated
VAR_005998 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_005999 comment Sporadic cancers
VAR_005999 commonName VAR_005999
VAR_006000 comment Sporadic cancers
VAR_006000 commonName VAR_006000
VAR_006001 comment Sporadic cancers
VAR_006001 commonName VAR_006001
VAR_006002 comment Sporadic cancers
VAR_006002 commonName VAR_006002
VAR_006003 commonName VAR_006003
VAR_006003 disease phenotype-associated
VAR_006003 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006004 commonName VAR_006004
VAR_006004 disease phenotype-associated
VAR_006004 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006005 commonName VAR_006005
VAR_006005 disease phenotype-associated
VAR_006005 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006006 comment Sporadic cancers
VAR_006006 commonName VAR_006006
VAR_006007 comment A familial cancer not matching LFS
VAR_006007 commonName VAR_006007
VAR_006008 comment Sporadic cancers
VAR_006008 commonName VAR_006008
VAR_006009 comment Sporadic cancers
VAR_006009 commonName VAR_006009
VAR_006010 comment Sporadic cancers
VAR_006010 commonName VAR_006010
VAR_006011 comment Sporadic cancers
VAR_006011 commonName VAR_006011
VAR_006012 comment A brain tumor with no family history
VAR_006012 commonName VAR_006012
VAR_006013 comment Sporadic cancers
VAR_006013 commonName VAR_006013
VAR_006014 comment A familial cancer not matching LFS
VAR_006014 commonName VAR_006014
VAR_006015 comment Sporadic cancers
VAR_006015 commonName VAR_006015
VAR_006016 commonName VAR_006016
VAR_006016 disease phenotype-associated
VAR_006016 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006017 commonName VAR_006017
VAR_006017 disease phenotype-associated
VAR_006017 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006018 comment Sporadic cancers
VAR_006018 commonName VAR_006018
VAR_006019 comment A brain tumor with no family history
VAR_006019 commonName VAR_006019
VAR_006020 comment Sporadic cancers
VAR_006020 commonName VAR_006020
VAR_006021 comment Sporadic cancers
VAR_006021 commonName VAR_006021
VAR_006022 comment Sporadic cancers
VAR_006022 commonName VAR_006022
VAR_006023 comment Sporadic cancers
VAR_006023 commonName VAR_006023
VAR_006024 commonName VAR_006024
VAR_006024 disease phenotype-associated
VAR_006024 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006025 comment Sporadic cancers
VAR_006025 commonName VAR_006025
VAR_006026 commonName VAR_006026
VAR_006026 disease phenotype-associated
VAR_006026 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006027 comment Sporadic cancers
VAR_006027 commonName VAR_006027
VAR_006028 comment Sporadic cancers
VAR_006028 commonName VAR_006028
VAR_006029 comment Sporadic cancers
VAR_006029 commonName VAR_006029
VAR_006030 comment Sporadic cancers
VAR_006030 commonName VAR_006030
VAR_006031 comment A sporadic cancer
VAR_006031 commonName VAR_006031
VAR_006032 comment A sporadic cancer
VAR_006032 commonName VAR_006032
VAR_006033 comment Sporadic cancers
VAR_006033 commonName VAR_006033
VAR_006034 comment Sporadic cancers
VAR_006034 commonName VAR_006034
VAR_006035 comment A sporadic cancer
VAR_006035 commonName VAR_006035
VAR_006036 comment Sporadic cancers
VAR_006036 commonName VAR_006036
VAR_006037 comment Sporadic cancers
VAR_006037 commonName VAR_006037
VAR_006038 commonName VAR_006038
VAR_006038 disease phenotype-associated
VAR_006038 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006039 commonName VAR_006039
VAR_006039 disease phenotype-associated
VAR_006039 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006040 comment Sporadic cancers
VAR_006040 commonName VAR_006040
VAR_006041 commonName VAR_006041
VAR_006041 disease phenotype-associated
VAR_006041 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_006042 commonName VAR_006042
VAR_006042 disease not phenotype-associated
VAR_006043 commonName VAR_006043
VAR_006043 disease not phenotype-associated
VAR_006044 commonName VAR_006044
VAR_006044 disease not phenotype-associated
VAR_006047 commonName VAR_006047
VAR_006047 disease phenotype-associated
VAR_006047 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_006048 commonName VAR_006048
VAR_006048 disease not phenotype-associated
VAR_006049 commonName VAR_006049
VAR_006049 disease phenotype-associated
VAR_006049 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810]
VAR_006050 commonName VAR_006050
VAR_006050 disease phenotype-associated
VAR_006050 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_006051 commonName VAR_006051
VAR_006051 disease phenotype-associated
VAR_006051 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_006052 commonName VAR_006052
VAR_006052 disease phenotype-associated
VAR_006052 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_006054 commonName VAR_006054
VAR_006054 disease not phenotype-associated
VAR_006055 commonName VAR_006055
VAR_006055 disease not phenotype-associated
VAR_006056 commonName VAR_006056
VAR_006056 disease not phenotype-associated
VAR_006057 commonName VAR_006057
VAR_006057 disease not phenotype-associated
VAR_006058 commonName VAR_006058
VAR_006058 disease not phenotype-associated
VAR_006059 commonName VAR_006059
VAR_006059 disease not phenotype-associated
VAR_006060 commonName VAR_006060
VAR_006060 disease phenotype-associated
VAR_006060 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_006061 commonName VAR_006061
VAR_006061 disease not phenotype-associated
VAR_006062 commonName VAR_006062
VAR_006062 disease phenotype-associated
VAR_006062 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_006063 commonName VAR_006063
VAR_006063 disease phenotype-associated
VAR_006063 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800]
VAR_006064 commonName VAR_006064
VAR_006064 disease phenotype-associated
VAR_006064 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800]
VAR_006065 commonName VAR_006065
VAR_006065 disease phenotype-associated
VAR_006065 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800]
VAR_006066 commonName VAR_006066
VAR_006066 disease phenotype-associated
VAR_006066 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800]
VAR_006070 commonName VAR_006070
VAR_006070 disease not phenotype-associated
VAR_006071 commonName VAR_006071
VAR_006071 disease not phenotype-associated
VAR_006072 commonName VAR_006072
VAR_006072 disease phenotype-associated
VAR_006072 phenoCommon Fructosuria (FRUCT) [MIM:229800]
VAR_006073 commonName VAR_006073
VAR_006073 disease phenotype-associated
VAR_006073 phenoCommon Fructosuria (FRUCT) [MIM:229800]
VAR_006074 commonName VAR_006074
VAR_006074 disease not phenotype-associated
VAR_006075 commonName VAR_006075
VAR_006075 disease not phenotype-associated
VAR_006076 commonName VAR_006076
VAR_006076 disease phenotype-associated
VAR_006076 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006077 commonName VAR_006077
VAR_006077 disease phenotype-associated
VAR_006077 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006078 commonName VAR_006078
VAR_006078 disease phenotype-associated
VAR_006078 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006080 commonName VAR_006080
VAR_006080 disease phenotype-associated
VAR_006080 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006081 commonName VAR_006081
VAR_006081 disease phenotype-associated
VAR_006081 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006082 commonName VAR_006082
VAR_006082 disease phenotype-associated
VAR_006082 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006083 commonName VAR_006083
VAR_006084 commonName VAR_006084
VAR_006084 disease phenotype-associated
VAR_006084 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006085 commonName VAR_006085
VAR_006085 disease phenotype-associated
VAR_006085 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006086 commonName VAR_006086
VAR_006086 disease phenotype-associated
VAR_006086 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
VAR_006087 commonName VAR_006087
VAR_006087 disease not phenotype-associated
VAR_006088 commonName VAR_006088
VAR_006088 disease phenotype-associated
VAR_006088 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670]
VAR_006089 commonName VAR_006089
VAR_006089 disease phenotype-associated
VAR_006089 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670]
VAR_006090 commonName VAR_006090
VAR_006090 disease not phenotype-associated
VAR_006091 commonName VAR_006091
VAR_006091 disease not phenotype-associated
VAR_006093 commonName VAR_006093
VAR_006093 disease phenotype-associated
VAR_006093 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006094 commonName VAR_006094
VAR_006094 disease phenotype-associated
VAR_006094 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006095 commonName VAR_006095
VAR_006095 disease phenotype-associated
VAR_006095 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006096 commonName VAR_006096
VAR_006096 disease phenotype-associated
VAR_006096 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006097 commonName VAR_006097
VAR_006097 disease phenotype-associated
VAR_006097 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006098 commonName VAR_006098
VAR_006098 disease phenotype-associated
VAR_006098 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006099 commonName VAR_006099
VAR_006099 disease phenotype-associated
VAR_006099 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006100 commonName VAR_006100
VAR_006100 disease phenotype-associated
VAR_006100 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006101 commonName VAR_006101
VAR_006101 disease phenotype-associated
VAR_006101 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006102 commonName VAR_006102
VAR_006102 disease phenotype-associated
VAR_006102 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006103 commonName VAR_006103
VAR_006103 disease phenotype-associated
VAR_006103 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006104 commonName VAR_006104
VAR_006104 disease phenotype-associated
VAR_006104 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006105 commonName VAR_006105
VAR_006105 disease phenotype-associated
VAR_006105 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006106 commonName VAR_006106
VAR_006106 disease phenotype-associated
VAR_006106 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006107 commonName VAR_006107
VAR_006107 disease phenotype-associated
VAR_006107 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006108 commonName VAR_006108
VAR_006108 disease phenotype-associated
VAR_006108 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006109 commonName VAR_006109
VAR_006109 disease phenotype-associated
VAR_006109 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006110 commonName VAR_006110
VAR_006110 disease phenotype-associated
VAR_006110 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006111 commonName VAR_006111
VAR_006111 disease phenotype-associated
VAR_006111 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006112 commonName VAR_006112
VAR_006112 disease phenotype-associated
VAR_006112 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006113 commonName VAR_006113
VAR_006113 disease phenotype-associated
VAR_006113 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006114 commonName VAR_006114
VAR_006114 disease phenotype-associated
VAR_006114 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006115 commonName VAR_006115
VAR_006115 disease phenotype-associated
VAR_006115 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006116 commonName VAR_006116
VAR_006116 disease phenotype-associated
VAR_006116 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_006117 commonName VAR_006117
VAR_006117 disease phenotype-associated
VAR_006117 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006118 commonName VAR_006118
VAR_006118 disease phenotype-associated
VAR_006118 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006119 commonName VAR_006119
VAR_006119 disease phenotype-associated
VAR_006119 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006121 commonName VAR_006121
VAR_006121 disease not phenotype-associated
VAR_006123 commonName VAR_006123
VAR_006123 disease not phenotype-associated
VAR_006124 commonName VAR_006124
VAR_006124 disease phenotype-associated
VAR_006124 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006125 commonName VAR_006125
VAR_006125 disease phenotype-associated
VAR_006125 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006126 commonName VAR_006126
VAR_006126 disease phenotype-associated
VAR_006126 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006127 commonName VAR_006127
VAR_006127 disease phenotype-associated
VAR_006127 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006128 commonName VAR_006128
VAR_006128 disease not phenotype-associated
VAR_006129 commonName VAR_006129
VAR_006129 disease phenotype-associated
VAR_006129 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006131 commonName VAR_006131
VAR_006131 disease not phenotype-associated
VAR_006132 commonName VAR_006132
VAR_006132 disease phenotype-associated
VAR_006132 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006133 commonName VAR_006133
VAR_006133 disease phenotype-associated
VAR_006133 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006134 commonName VAR_006134
VAR_006134 disease phenotype-associated
VAR_006134 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006135 commonName VAR_006135
VAR_006135 disease phenotype-associated
VAR_006135 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006136 commonName VAR_006136
VAR_006136 disease phenotype-associated
VAR_006136 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006137 commonName VAR_006137
VAR_006137 disease phenotype-associated
VAR_006137 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006138 commonName VAR_006138
VAR_006138 disease phenotype-associated
VAR_006138 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006139 commonName VAR_006139
VAR_006139 disease not phenotype-associated
VAR_006140 commonName VAR_006140
VAR_006140 disease phenotype-associated
VAR_006140 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006141 commonName VAR_006141
VAR_006141 disease phenotype-associated
VAR_006141 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006142 commonName VAR_006142
VAR_006142 disease not phenotype-associated
VAR_006143 commonName VAR_006143
VAR_006143 disease phenotype-associated
VAR_006143 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006144 commonName VAR_006144
VAR_006144 disease phenotype-associated
VAR_006144 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006145 commonName VAR_006145
VAR_006145 disease phenotype-associated
VAR_006145 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006146 commonName VAR_006146
VAR_006146 disease phenotype-associated
VAR_006146 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_006147 commonName VAR_006147
VAR_006147 disease phenotype-associated
VAR_006147 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006148 commonName VAR_006148
VAR_006148 disease phenotype-associated
VAR_006148 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006149 commonName VAR_006149
VAR_006149 disease phenotype-associated
VAR_006149 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006150 commonName VAR_006150
VAR_006150 disease phenotype-associated
VAR_006150 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006151 commonName VAR_006151
VAR_006151 disease phenotype-associated
VAR_006151 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006152 commonName VAR_006152
VAR_006152 disease phenotype-associated
VAR_006152 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006153 commonName VAR_006153
VAR_006153 disease phenotype-associated
VAR_006153 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006154 commonName VAR_006154
VAR_006154 disease phenotype-associated
VAR_006154 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006155 commonName VAR_006155
VAR_006155 disease phenotype-associated
VAR_006155 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006156 commonName VAR_006156
VAR_006156 disease phenotype-associated
VAR_006156 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006157 commonName VAR_006157
VAR_006157 disease phenotype-associated
VAR_006157 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006158 commonName VAR_006158
VAR_006158 disease phenotype-associated
VAR_006158 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006159 commonName VAR_006159
VAR_006159 disease phenotype-associated
VAR_006159 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006160 commonName VAR_006160
VAR_006160 disease phenotype-associated
VAR_006160 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006161 commonName VAR_006161
VAR_006161 disease not phenotype-associated
VAR_006162 commonName VAR_006162
VAR_006162 disease phenotype-associated
VAR_006162 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006163 commonName VAR_006163
VAR_006163 disease phenotype-associated
VAR_006163 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006164 commonName VAR_006164
VAR_006164 disease phenotype-associated
VAR_006164 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006165 commonName VAR_006165
VAR_006165 disease phenotype-associated
VAR_006165 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006166 commonName VAR_006166
VAR_006166 disease phenotype-associated
VAR_006166 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006167 commonName VAR_006167
VAR_006167 disease phenotype-associated
VAR_006167 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006168 commonName VAR_006168
VAR_006168 disease phenotype-associated
VAR_006168 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006169 commonName VAR_006169
VAR_006169 disease phenotype-associated
VAR_006169 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006170 commonName VAR_006170
VAR_006170 disease phenotype-associated
VAR_006170 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_006171 commonName VAR_006171
VAR_006171 disease not phenotype-associated
VAR_006173 commonName VAR_006173
VAR_006173 disease not phenotype-associated
VAR_006175 commonName VAR_006175
VAR_006175 disease not phenotype-associated
VAR_006176 commonName VAR_006176
VAR_006176 disease not phenotype-associated
VAR_006177 commonName VAR_006177
VAR_006177 disease phenotype-associated
VAR_006177 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006178 commonName VAR_006178
VAR_006178 disease phenotype-associated
VAR_006178 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006180 commonName VAR_006180
VAR_006180 disease phenotype-associated
VAR_006180 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006181 commonName VAR_006181
VAR_006181 disease phenotype-associated
VAR_006181 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006183 commonName VAR_006183
VAR_006183 disease phenotype-associated
VAR_006183 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006185 commonName VAR_006185
VAR_006185 disease phenotype-associated
VAR_006185 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006186 commonName VAR_006186
VAR_006186 disease phenotype-associated
VAR_006186 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_006187 commonName VAR_006187
VAR_006187 disease not phenotype-associated
VAR_006188 commonName VAR_006188
VAR_006188 disease not phenotype-associated
VAR_006189 commonName VAR_006189
VAR_006189 disease phenotype-associated
VAR_006189 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006190 commonName VAR_006190
VAR_006190 disease phenotype-associated
VAR_006190 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006191 commonName VAR_006191
VAR_006191 disease phenotype-associated
VAR_006191 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006192 commonName VAR_006192
VAR_006192 disease phenotype-associated
VAR_006192 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006193 commonName VAR_006193
VAR_006193 disease phenotype-associated
VAR_006193 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006194 commonName VAR_006194
VAR_006194 disease phenotype-associated
VAR_006194 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006195 commonName VAR_006195
VAR_006195 disease phenotype-associated
VAR_006195 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006196 commonName VAR_006196
VAR_006196 disease phenotype-associated
VAR_006196 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_006200 commonName VAR_006200
VAR_006200 disease phenotype-associated
VAR_006200 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
VAR_006201 commonName VAR_006201
VAR_006201 disease phenotype-associated
VAR_006201 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
VAR_006202 commonName VAR_006202
VAR_006202 disease phenotype-associated
VAR_006202 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_006204 commonName VAR_006204
VAR_006204 disease phenotype-associated
VAR_006204 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006205 commonName VAR_006205
VAR_006205 disease phenotype-associated
VAR_006205 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006206 commonName VAR_006206
VAR_006206 disease phenotype-associated
VAR_006206 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006207 commonName VAR_006207
VAR_006207 disease phenotype-associated
VAR_006207 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006208 commonName VAR_006208
VAR_006208 disease phenotype-associated
VAR_006208 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006210 commonName VAR_006210
VAR_006210 disease phenotype-associated
VAR_006210 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006211 commonName VAR_006211
VAR_006211 disease phenotype-associated
VAR_006211 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006212 commonName VAR_006212
VAR_006212 disease phenotype-associated
VAR_006212 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006213 commonName VAR_006213
VAR_006213 disease phenotype-associated
VAR_006213 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006214 commonName VAR_006214
VAR_006214 disease phenotype-associated
VAR_006214 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_006215 commonName VAR_006215
VAR_006215 disease phenotype-associated
VAR_006215 phenoCommon Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]
VAR_006216 commonName VAR_006216
VAR_006216 disease phenotype-associated
VAR_006216 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006217 commonName VAR_006217
VAR_006217 disease phenotype-associated
VAR_006217 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006218 commonName VAR_006218
VAR_006218 disease phenotype-associated
VAR_006218 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006219 commonName VAR_006219
VAR_006219 disease phenotype-associated
VAR_006219 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006220 commonName VAR_006220
VAR_006220 disease phenotype-associated
VAR_006220 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006221 commonName VAR_006221
VAR_006221 disease phenotype-associated
VAR_006221 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006222 commonName VAR_006222
VAR_006222 disease phenotype-associated
VAR_006222 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006223 commonName VAR_006223
VAR_006223 disease phenotype-associated
VAR_006223 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006225 commonName VAR_006225
VAR_006225 disease phenotype-associated
VAR_006225 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006227 commonName VAR_006227
VAR_006227 disease phenotype-associated
VAR_006227 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006228 commonName VAR_006228
VAR_006228 disease phenotype-associated
VAR_006228 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006230 commonName VAR_006230
VAR_006230 disease phenotype-associated
VAR_006230 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006231 commonName VAR_006231
VAR_006231 disease phenotype-associated
VAR_006231 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006232 commonName VAR_006232
VAR_006232 disease phenotype-associated
VAR_006232 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006233 commonName VAR_006233
VAR_006233 disease phenotype-associated
VAR_006233 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006234 commonName VAR_006234
VAR_006234 disease phenotype-associated
VAR_006234 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006235 commonName VAR_006235
VAR_006235 disease phenotype-associated
VAR_006235 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006236 commonName VAR_006236
VAR_006236 disease phenotype-associated
VAR_006236 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006237 commonName VAR_006237
VAR_006237 disease phenotype-associated
VAR_006237 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006238 commonName VAR_006238
VAR_006238 disease phenotype-associated
VAR_006238 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006239 commonName VAR_006239
VAR_006239 disease phenotype-associated
VAR_006239 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006240 commonName VAR_006240
VAR_006240 disease phenotype-associated
VAR_006240 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006241 commonName VAR_006241
VAR_006241 disease phenotype-associated
VAR_006241 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006242 commonName VAR_006242
VAR_006242 disease phenotype-associated
VAR_006242 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006243 commonName VAR_006243
VAR_006243 disease phenotype-associated
VAR_006243 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006244 commonName VAR_006244
VAR_006244 disease phenotype-associated
VAR_006244 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006245 commonName VAR_006245
VAR_006245 disease phenotype-associated
VAR_006245 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006246 commonName VAR_006246
VAR_006246 disease phenotype-associated
VAR_006246 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006247 commonName VAR_006247
VAR_006247 disease phenotype-associated
VAR_006247 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006248 commonName VAR_006248
VAR_006248 disease phenotype-associated
VAR_006248 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006249 commonName VAR_006249
VAR_006249 disease phenotype-associated
VAR_006249 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006251 commonName VAR_006251
VAR_006251 disease phenotype-associated
VAR_006251 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006252 commonName VAR_006252
VAR_006252 disease phenotype-associated
VAR_006252 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006253 commonName VAR_006253
VAR_006253 disease phenotype-associated
VAR_006253 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006254 commonName VAR_006254
VAR_006254 disease phenotype-associated
VAR_006254 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006255 commonName VAR_006255
VAR_006255 disease phenotype-associated
VAR_006255 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006256 commonName VAR_006256
VAR_006256 disease phenotype-associated
VAR_006256 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_006282 commonName VAR_006282
VAR_006282 disease not phenotype-associated
VAR_006283 commonName VAR_006283
VAR_006283 disease not phenotype-associated
VAR_006284 commonName VAR_006284
VAR_006284 disease phenotype-associated
VAR_006284 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_006285 commonName VAR_006285
VAR_006285 disease not phenotype-associated
VAR_006295 commonName VAR_006295
VAR_006295 disease phenotype-associated
VAR_006295 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006296 commonName VAR_006296
VAR_006296 disease phenotype-associated
VAR_006296 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006297 commonName VAR_006297
VAR_006298 commonName VAR_006298
VAR_006298 disease phenotype-associated
VAR_006298 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006299 commonName VAR_006299
VAR_006299 disease phenotype-associated
VAR_006299 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006300 commonName VAR_006300
VAR_006300 disease phenotype-associated
VAR_006300 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006301 commonName VAR_006301
VAR_006301 disease phenotype-associated
VAR_006301 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006302 commonName VAR_006302
VAR_006302 disease phenotype-associated
VAR_006302 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006303 commonName VAR_006303
VAR_006303 disease phenotype-associated
VAR_006303 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006304 commonName VAR_006304
VAR_006304 disease phenotype-associated
VAR_006304 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006305 commonName VAR_006305
VAR_006305 disease phenotype-associated
VAR_006305 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006306 commonName VAR_006306
VAR_006306 disease phenotype-associated
VAR_006306 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006306 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006306 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006307 commonName VAR_006307
VAR_006307 disease phenotype-associated
VAR_006307 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006308 commonName VAR_006308
VAR_006308 disease phenotype-associated
VAR_006308 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006308 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006309 commonName VAR_006309
VAR_006309 disease phenotype-associated
VAR_006309 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006310 commonName VAR_006310
VAR_006310 disease phenotype-associated
VAR_006310 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006311 commonName VAR_006311
VAR_006311 disease phenotype-associated
VAR_006311 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006311 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006311 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006312 commonName VAR_006312
VAR_006312 disease phenotype-associated
VAR_006312 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006312 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006313 commonName VAR_006313
VAR_006313 disease phenotype-associated
VAR_006313 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006313 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006313 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006314 commonName VAR_006314
VAR_006314 disease phenotype-associated
VAR_006314 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006314 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006315 commonName VAR_006315
VAR_006315 disease phenotype-associated
VAR_006315 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006315 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006316 commonName VAR_006316
VAR_006316 disease phenotype-associated
VAR_006316 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006316 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006316 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006317 commonName VAR_006317
VAR_006317 disease phenotype-associated
VAR_006317 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006317 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006318 commonName VAR_006318
VAR_006318 disease phenotype-associated
VAR_006318 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006318 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006319 commonName VAR_006319
VAR_006319 disease phenotype-associated
VAR_006319 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006320 commonName VAR_006320
VAR_006320 disease phenotype-associated
VAR_006320 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006320 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006321 comment Thyroid carcinoma
VAR_006321 commonName VAR_006321
VAR_006323 commonName VAR_006323
VAR_006323 disease phenotype-associated
VAR_006323 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006323 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006324 commonName VAR_006324
VAR_006324 disease phenotype-associated
VAR_006324 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006324 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006325 commonName VAR_006325
VAR_006325 disease phenotype-associated
VAR_006325 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006325 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006325 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006326 commonName VAR_006326
VAR_006326 disease phenotype-associated
VAR_006326 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006326 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006326 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006327 commonName VAR_006327
VAR_006327 disease phenotype-associated
VAR_006327 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006327 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006327 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006328 commonName VAR_006328
VAR_006328 disease phenotype-associated
VAR_006328 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006328 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_006328 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_006331 commonName VAR_006331
VAR_006331 disease phenotype-associated
VAR_006331 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006332 commonName VAR_006332
VAR_006332 disease not phenotype-associated
VAR_006334 commonName VAR_006334
VAR_006334 disease phenotype-associated
VAR_006334 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006335 commonName VAR_006335
VAR_006335 disease phenotype-associated
VAR_006335 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006336 commonName VAR_006336
VAR_006336 disease phenotype-associated
VAR_006336 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006337 commonName VAR_006337
VAR_006337 disease phenotype-associated
VAR_006337 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006338 commonName VAR_006338
VAR_006338 disease phenotype-associated
VAR_006338 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006339 commonName VAR_006339
VAR_006339 disease phenotype-associated
VAR_006339 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006340 commonName VAR_006340
VAR_006340 disease phenotype-associated
VAR_006340 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006341 commonName VAR_006341
VAR_006341 disease phenotype-associated
VAR_006341 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006342 commonName VAR_006342
VAR_006342 disease phenotype-associated
VAR_006342 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006342 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300]
VAR_006342 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_006343 commonName VAR_006343
VAR_006343 disease phenotype-associated
VAR_006343 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006345 commonName VAR_006345
VAR_006345 disease phenotype-associated
VAR_006345 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_006345 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300]
VAR_006346 commonName VAR_006346
VAR_006346 disease phenotype-associated
VAR_006346 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006347 commonName VAR_006347
VAR_006347 disease phenotype-associated
VAR_006347 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006348 commonName VAR_006348
VAR_006348 disease phenotype-associated
VAR_006348 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_006349 commonName VAR_006349
VAR_006349 disease not phenotype-associated
VAR_006350 commonName VAR_006350
VAR_006350 disease not phenotype-associated
VAR_006355 commonName VAR_006355
VAR_006355 disease phenotype-associated
VAR_006355 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]
VAR_006356 commonName VAR_006356
VAR_006356 disease phenotype-associated
VAR_006356 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]
VAR_006357 commonName VAR_006357
VAR_006357 disease phenotype-associated
VAR_006357 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]
VAR_006358 commonName VAR_006358
VAR_006358 disease phenotype-associated
VAR_006358 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]
VAR_006359 commonName VAR_006359
VAR_006359 disease phenotype-associated
VAR_006359 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006360 commonName VAR_006360
VAR_006360 disease phenotype-associated
VAR_006360 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006360 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006361 commonName VAR_006361
VAR_006361 disease phenotype-associated
VAR_006361 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006362 commonName VAR_006362
VAR_006362 disease phenotype-associated
VAR_006362 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006363 commonName VAR_006363
VAR_006363 disease phenotype-associated
VAR_006363 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006363 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006364 commonName VAR_006364
VAR_006364 disease phenotype-associated
VAR_006364 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006365 commonName VAR_006365
VAR_006365 disease phenotype-associated
VAR_006365 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006366 commonName VAR_006366
VAR_006366 disease phenotype-associated
VAR_006366 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006367 commonName VAR_006367
VAR_006367 disease phenotype-associated
VAR_006367 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006368 commonName VAR_006368
VAR_006368 disease phenotype-associated
VAR_006368 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006369 commonName VAR_006369
VAR_006369 disease phenotype-associated
VAR_006369 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006371 commonName VAR_006371
VAR_006371 disease phenotype-associated
VAR_006371 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006372 commonName VAR_006372
VAR_006372 disease phenotype-associated
VAR_006372 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006373 commonName VAR_006373
VAR_006373 disease phenotype-associated
VAR_006373 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006373 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006374 commonName VAR_006374
VAR_006374 disease phenotype-associated
VAR_006374 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006375 commonName VAR_006375
VAR_006375 disease phenotype-associated
VAR_006375 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006376 commonName VAR_006376
VAR_006376 disease not phenotype-associated
VAR_006377 commonName VAR_006377
VAR_006377 disease phenotype-associated
VAR_006377 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_006378 commonName VAR_006378
VAR_006378 disease phenotype-associated
VAR_006378 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006379 commonName VAR_006379
VAR_006379 disease phenotype-associated
VAR_006379 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_006380 commonName VAR_006380
VAR_006380 disease not phenotype-associated
VAR_006382 commonName VAR_006382
VAR_006382 disease not phenotype-associated
VAR_006384 comment A lung cancer patient
VAR_006384 commonName VAR_006384
VAR_006385 comment Colon cancer
VAR_006385 commonName VAR_006385
VAR_006387 commonName VAR_006387
VAR_006387 disease phenotype-associated
VAR_006387 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006388 commonName VAR_006388
VAR_006388 disease phenotype-associated
VAR_006388 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006389 commonName VAR_006389
VAR_006389 disease phenotype-associated
VAR_006389 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006390 commonName VAR_006390
VAR_006390 disease phenotype-associated
VAR_006390 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006391 commonName VAR_006391
VAR_006391 disease phenotype-associated
VAR_006391 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006392 commonName VAR_006392
VAR_006392 disease phenotype-associated
VAR_006392 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006393 commonName VAR_006393
VAR_006393 disease phenotype-associated
VAR_006393 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006394 commonName VAR_006394
VAR_006394 disease phenotype-associated
VAR_006394 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006395 commonName VAR_006395
VAR_006395 disease phenotype-associated
VAR_006395 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006396 commonName VAR_006396
VAR_006396 disease phenotype-associated
VAR_006396 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006397 commonName VAR_006397
VAR_006397 disease phenotype-associated
VAR_006397 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006398 commonName VAR_006398
VAR_006398 disease phenotype-associated
VAR_006398 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006399 commonName VAR_006399
VAR_006399 disease phenotype-associated
VAR_006399 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006400 commonName VAR_006400
VAR_006400 disease phenotype-associated
VAR_006400 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006401 commonName VAR_006401
VAR_006401 disease phenotype-associated
VAR_006401 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006402 commonName VAR_006402
VAR_006402 disease phenotype-associated
VAR_006402 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006403 commonName VAR_006403
VAR_006403 disease phenotype-associated
VAR_006403 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006404 commonName VAR_006404
VAR_006404 disease phenotype-associated
VAR_006404 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006406 commonName VAR_006406
VAR_006406 disease phenotype-associated
VAR_006406 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006407 commonName VAR_006407
VAR_006407 disease phenotype-associated
VAR_006407 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006408 commonName VAR_006408
VAR_006408 disease phenotype-associated
VAR_006408 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_006411 commonName VAR_006411
VAR_006411 disease not phenotype-associated
VAR_006412 commonName VAR_006412
VAR_006412 disease not phenotype-associated
VAR_006413 commonName VAR_006413
VAR_006413 disease phenotype-associated
VAR_006413 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006414 commonName VAR_006414
VAR_006414 disease phenotype-associated
VAR_006414 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006415 commonName VAR_006415
VAR_006415 disease phenotype-associated
VAR_006415 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006416 commonName VAR_006416
VAR_006416 disease phenotype-associated
VAR_006416 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006417 commonName VAR_006417
VAR_006417 disease phenotype-associated
VAR_006417 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006418 commonName VAR_006418
VAR_006418 disease phenotype-associated
VAR_006418 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006419 commonName VAR_006419
VAR_006419 disease phenotype-associated
VAR_006419 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006420 commonName VAR_006420
VAR_006420 disease phenotype-associated
VAR_006420 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006421 commonName VAR_006421
VAR_006421 disease phenotype-associated
VAR_006421 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006422 commonName VAR_006422
VAR_006422 disease phenotype-associated
VAR_006422 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006423 commonName VAR_006423
VAR_006423 disease phenotype-associated
VAR_006423 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006424 commonName VAR_006424
VAR_006424 disease phenotype-associated
VAR_006424 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006425 commonName VAR_006425
VAR_006425 disease phenotype-associated
VAR_006425 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006426 commonName VAR_006426
VAR_006426 disease phenotype-associated
VAR_006426 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006427 commonName VAR_006427
VAR_006427 disease phenotype-associated
VAR_006427 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006428 commonName VAR_006428
VAR_006428 disease phenotype-associated
VAR_006428 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006429 commonName VAR_006429
VAR_006429 disease phenotype-associated
VAR_006429 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006430 commonName VAR_006430
VAR_006430 disease phenotype-associated
VAR_006430 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006431 commonName VAR_006431
VAR_006431 disease phenotype-associated
VAR_006431 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006432 commonName VAR_006432
VAR_006432 disease phenotype-associated
VAR_006432 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006433 commonName VAR_006433
VAR_006433 disease phenotype-associated
VAR_006433 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006434 commonName VAR_006434
VAR_006434 disease phenotype-associated
VAR_006434 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006435 commonName VAR_006435
VAR_006435 disease phenotype-associated
VAR_006435 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006436 commonName VAR_006436
VAR_006436 disease phenotype-associated
VAR_006436 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006437 commonName VAR_006437
VAR_006437 disease phenotype-associated
VAR_006437 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006438 commonName VAR_006438
VAR_006439 commonName VAR_006439
VAR_006439 disease phenotype-associated
VAR_006439 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006440 commonName VAR_006440
VAR_006440 disease phenotype-associated
VAR_006440 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006441 commonName VAR_006441
VAR_006441 disease phenotype-associated
VAR_006441 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006442 commonName VAR_006442
VAR_006442 disease phenotype-associated
VAR_006442 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006443 commonName VAR_006443
VAR_006443 disease phenotype-associated
VAR_006443 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006444 commonName VAR_006444
VAR_006444 disease phenotype-associated
VAR_006444 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006445 commonName VAR_006445
VAR_006445 disease phenotype-associated
VAR_006445 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006446 commonName VAR_006446
VAR_006446 disease phenotype-associated
VAR_006446 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006447 commonName VAR_006447
VAR_006447 disease phenotype-associated
VAR_006447 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006448 commonName VAR_006448
VAR_006448 disease phenotype-associated
VAR_006448 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006449 commonName VAR_006449
VAR_006449 disease phenotype-associated
VAR_006449 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006450 commonName VAR_006450
VAR_006450 disease phenotype-associated
VAR_006450 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006451 commonName VAR_006451
VAR_006451 disease phenotype-associated
VAR_006451 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006452 commonName VAR_006452
VAR_006452 disease phenotype-associated
VAR_006452 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006453 commonName VAR_006453
VAR_006453 disease phenotype-associated
VAR_006453 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006454 commonName VAR_006454
VAR_006454 disease not phenotype-associated
VAR_006455 commonName VAR_006455
VAR_006455 disease phenotype-associated
VAR_006455 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006456 commonName VAR_006456
VAR_006456 disease phenotype-associated
VAR_006456 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006457 commonName VAR_006457
VAR_006457 disease phenotype-associated
VAR_006457 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006458 commonName VAR_006458
VAR_006458 disease phenotype-associated
VAR_006458 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006459 commonName VAR_006459
VAR_006459 disease phenotype-associated
VAR_006459 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006460 commonName VAR_006460
VAR_006460 disease phenotype-associated
VAR_006460 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_006461 commonName VAR_006461
VAR_006461 disease phenotype-associated
VAR_006461 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_006462 commonName VAR_006462
VAR_006462 disease phenotype-associated
VAR_006462 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_006463 commonName VAR_006463
VAR_006463 disease phenotype-associated
VAR_006463 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_006464 commonName VAR_006464
VAR_006464 disease phenotype-associated
VAR_006464 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_006465 commonName VAR_006465
VAR_006465 disease phenotype-associated
VAR_006465 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_006466 commonName VAR_006466
VAR_006467 commonName VAR_006467
VAR_006467 disease not phenotype-associated
VAR_006468 commonName VAR_006468
VAR_006468 disease not phenotype-associated
VAR_006469 commonName VAR_006469
VAR_006469 disease phenotype-associated
VAR_006469 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_006469 phenoCommon Fatal familial insomnia (FFI) [MIM:600072]
VAR_006469 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_006470 commonName VAR_006470
VAR_006470 disease phenotype-associated
VAR_006470 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_006470 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_006471 commonName VAR_006471
VAR_006472 commonName VAR_006472
VAR_006472 disease phenotype-associated
VAR_006472 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_006473 commonName VAR_006473
VAR_006473 disease phenotype-associated
VAR_006473 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_006473 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_006474 commonName VAR_006474
VAR_006474 disease phenotype-associated
VAR_006474 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_006474 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_006475 commonName VAR_006475
VAR_006475 disease phenotype-associated
VAR_006475 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_006475 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_006476 commonName VAR_006476
VAR_006476 disease phenotype-associated
VAR_006476 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_006477 commonName VAR_006477
VAR_006477 disease not phenotype-associated
VAR_006479 comment A breast cancer sample
VAR_006479 commonName VAR_006479
VAR_006480 comment A breast cancer sample
VAR_006480 commonName VAR_006480
VAR_006490 commonName VAR_006490
VAR_006491 commonName VAR_006491
VAR_006491 disease not phenotype-associated
VAR_006497 commonName VAR_006497
VAR_006497 disease phenotype-associated
VAR_006497 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006498 commonName VAR_006498
VAR_006498 disease phenotype-associated
VAR_006498 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006499 commonName VAR_006499
VAR_006499 disease phenotype-associated
VAR_006499 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006500 commonName VAR_006500
VAR_006500 disease phenotype-associated
VAR_006500 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006501 commonName VAR_006501
VAR_006501 disease phenotype-associated
VAR_006501 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006502 commonName VAR_006502
VAR_006502 disease phenotype-associated
VAR_006502 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006503 commonName VAR_006503
VAR_006503 disease phenotype-associated
VAR_006503 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006504 commonName VAR_006504
VAR_006504 disease phenotype-associated
VAR_006504 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006505 commonName VAR_006505
VAR_006505 disease phenotype-associated
VAR_006505 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006506 commonName VAR_006506
VAR_006506 disease phenotype-associated
VAR_006506 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006507 commonName VAR_006507
VAR_006507 disease phenotype-associated
VAR_006507 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006508 commonName VAR_006508
VAR_006508 disease phenotype-associated
VAR_006508 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006509 commonName VAR_006509
VAR_006509 disease phenotype-associated
VAR_006509 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006510 commonName VAR_006510
VAR_006510 disease phenotype-associated
VAR_006510 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006511 commonName VAR_006511
VAR_006511 disease phenotype-associated
VAR_006511 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006512 commonName VAR_006512
VAR_006512 disease phenotype-associated
VAR_006512 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006513 commonName VAR_006513
VAR_006513 disease phenotype-associated
VAR_006513 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006514 commonName VAR_006514
VAR_006514 disease phenotype-associated
VAR_006514 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006515 commonName VAR_006515
VAR_006515 disease phenotype-associated
VAR_006515 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006516 commonName VAR_006516
VAR_006516 disease phenotype-associated
VAR_006516 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006517 commonName VAR_006517
VAR_006517 disease phenotype-associated
VAR_006517 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006518 commonName VAR_006518
VAR_006518 disease not phenotype-associated
VAR_006519 commonName VAR_006519
VAR_006519 disease phenotype-associated
VAR_006519 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_006520 commonName VAR_006520
VAR_006520 disease not phenotype-associated
VAR_006521 commonName VAR_006521
VAR_006521 disease phenotype-associated
VAR_006521 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006522 commonName VAR_006522
VAR_006522 disease phenotype-associated
VAR_006522 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006523 commonName VAR_006523
VAR_006523 disease phenotype-associated
VAR_006523 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006524 commonName VAR_006524
VAR_006524 disease phenotype-associated
VAR_006524 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006525 commonName VAR_006525
VAR_006525 disease phenotype-associated
VAR_006525 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006526 commonName VAR_006526
VAR_006526 disease phenotype-associated
VAR_006526 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006527 commonName VAR_006527
VAR_006527 disease phenotype-associated
VAR_006527 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006528 commonName VAR_006528
VAR_006528 disease phenotype-associated
VAR_006528 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006529 commonName VAR_006529
VAR_006529 disease phenotype-associated
VAR_006529 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006530 commonName VAR_006530
VAR_006530 disease phenotype-associated
VAR_006530 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006531 commonName VAR_006531
VAR_006531 disease phenotype-associated
VAR_006531 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006532 commonName VAR_006532
VAR_006532 disease phenotype-associated
VAR_006532 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006533 commonName VAR_006533
VAR_006533 disease phenotype-associated
VAR_006533 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006534 commonName VAR_006534
VAR_006534 disease phenotype-associated
VAR_006534 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006535 commonName VAR_006535
VAR_006535 disease phenotype-associated
VAR_006535 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006536 commonName VAR_006536
VAR_006536 disease phenotype-associated
VAR_006536 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006538 commonName VAR_006538
VAR_006538 disease phenotype-associated
VAR_006538 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006539 commonName VAR_006539
VAR_006539 disease phenotype-associated
VAR_006539 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006540 commonName VAR_006540
VAR_006540 disease phenotype-associated
VAR_006540 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006541 commonName VAR_006541
VAR_006541 disease phenotype-associated
VAR_006541 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006542 commonName VAR_006542
VAR_006542 disease phenotype-associated
VAR_006542 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006543 commonName VAR_006543
VAR_006543 disease phenotype-associated
VAR_006543 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006544 commonName VAR_006544
VAR_006544 disease phenotype-associated
VAR_006544 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006545 commonName VAR_006545
VAR_006545 disease phenotype-associated
VAR_006545 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006546 commonName VAR_006546
VAR_006546 disease phenotype-associated
VAR_006546 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006547 commonName VAR_006547
VAR_006547 disease phenotype-associated
VAR_006547 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006548 commonName VAR_006548
VAR_006548 disease phenotype-associated
VAR_006548 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006549 commonName VAR_006549
VAR_006549 disease phenotype-associated
VAR_006549 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006550 commonName VAR_006550
VAR_006550 disease phenotype-associated
VAR_006550 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006551 commonName VAR_006551
VAR_006551 disease phenotype-associated
VAR_006551 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006552 commonName VAR_006552
VAR_006552 disease phenotype-associated
VAR_006552 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006553 commonName VAR_006553
VAR_006553 disease phenotype-associated
VAR_006553 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006554 commonName VAR_006554
VAR_006554 disease phenotype-associated
VAR_006554 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006555 commonName VAR_006555
VAR_006555 disease phenotype-associated
VAR_006555 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006556 commonName VAR_006556
VAR_006556 disease phenotype-associated
VAR_006556 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006557 commonName VAR_006557
VAR_006557 disease phenotype-associated
VAR_006557 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006558 commonName VAR_006558
VAR_006558 disease phenotype-associated
VAR_006558 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006560 commonName VAR_006560
VAR_006560 disease phenotype-associated
VAR_006560 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006561 commonName VAR_006561
VAR_006561 disease phenotype-associated
VAR_006561 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006562 commonName VAR_006562
VAR_006562 disease phenotype-associated
VAR_006562 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006563 commonName VAR_006563
VAR_006563 disease phenotype-associated
VAR_006563 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006564 commonName VAR_006564
VAR_006564 disease phenotype-associated
VAR_006564 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006565 commonName VAR_006565
VAR_006565 disease phenotype-associated
VAR_006565 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006566 commonName VAR_006566
VAR_006566 disease phenotype-associated
VAR_006566 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006567 commonName VAR_006567
VAR_006567 disease phenotype-associated
VAR_006567 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006568 commonName VAR_006568
VAR_006568 disease phenotype-associated
VAR_006568 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006569 commonName VAR_006569
VAR_006569 disease phenotype-associated
VAR_006569 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006570 commonName VAR_006570
VAR_006570 disease phenotype-associated
VAR_006570 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006571 commonName VAR_006571
VAR_006571 disease phenotype-associated
VAR_006571 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006572 commonName VAR_006572
VAR_006572 disease phenotype-associated
VAR_006572 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006573 commonName VAR_006573
VAR_006573 disease phenotype-associated
VAR_006573 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006574 commonName VAR_006574
VAR_006574 disease phenotype-associated
VAR_006574 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006575 commonName VAR_006575
VAR_006575 disease phenotype-associated
VAR_006575 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006576 commonName VAR_006576
VAR_006576 disease phenotype-associated
VAR_006576 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006577 commonName VAR_006577
VAR_006577 disease phenotype-associated
VAR_006577 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006578 commonName VAR_006578
VAR_006578 disease phenotype-associated
VAR_006578 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006579 commonName VAR_006579
VAR_006579 disease phenotype-associated
VAR_006579 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006580 commonName VAR_006580
VAR_006580 disease phenotype-associated
VAR_006580 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006582 commonName VAR_006582
VAR_006582 disease phenotype-associated
VAR_006582 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006583 commonName VAR_006583
VAR_006583 disease phenotype-associated
VAR_006583 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006584 commonName VAR_006584
VAR_006584 disease phenotype-associated
VAR_006584 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006585 commonName VAR_006585
VAR_006585 disease phenotype-associated
VAR_006585 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006586 commonName VAR_006586
VAR_006586 disease phenotype-associated
VAR_006586 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006587 commonName VAR_006587
VAR_006587 disease phenotype-associated
VAR_006587 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006588 commonName VAR_006588
VAR_006588 disease phenotype-associated
VAR_006588 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006589 commonName VAR_006589
VAR_006589 disease phenotype-associated
VAR_006589 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006590 commonName VAR_006590
VAR_006590 disease phenotype-associated
VAR_006590 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006591 commonName VAR_006591
VAR_006591 disease phenotype-associated
VAR_006591 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006592 commonName VAR_006592
VAR_006592 disease phenotype-associated
VAR_006592 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006593 commonName VAR_006593
VAR_006593 disease phenotype-associated
VAR_006593 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006594 commonName VAR_006594
VAR_006594 disease phenotype-associated
VAR_006594 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006595 commonName VAR_006595
VAR_006595 disease phenotype-associated
VAR_006595 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006596 commonName VAR_006596
VAR_006596 disease phenotype-associated
VAR_006596 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006597 commonName VAR_006597
VAR_006597 disease phenotype-associated
VAR_006597 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006598 commonName VAR_006598
VAR_006598 disease phenotype-associated
VAR_006598 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006599 commonName VAR_006599
VAR_006599 disease phenotype-associated
VAR_006599 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006600 commonName VAR_006600
VAR_006600 disease phenotype-associated
VAR_006600 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006601 commonName VAR_006601
VAR_006601 disease phenotype-associated
VAR_006601 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006602 commonName VAR_006602
VAR_006602 disease phenotype-associated
VAR_006602 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006603 commonName VAR_006603
VAR_006603 disease phenotype-associated
VAR_006603 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006604 commonName VAR_006604
VAR_006604 disease phenotype-associated
VAR_006604 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006605 commonName VAR_006605
VAR_006605 disease phenotype-associated
VAR_006605 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006606 commonName VAR_006606
VAR_006606 disease phenotype-associated
VAR_006606 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006607 commonName VAR_006607
VAR_006607 disease phenotype-associated
VAR_006607 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006608 commonName VAR_006608
VAR_006608 disease phenotype-associated
VAR_006608 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006609 commonName VAR_006609
VAR_006609 disease phenotype-associated
VAR_006609 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006610 commonName VAR_006610
VAR_006610 disease phenotype-associated
VAR_006610 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006611 commonName VAR_006611
VAR_006611 disease phenotype-associated
VAR_006611 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006612 commonName VAR_006612
VAR_006612 disease phenotype-associated
VAR_006612 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006613 commonName VAR_006613
VAR_006613 disease phenotype-associated
VAR_006613 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006614 commonName VAR_006614
VAR_006614 disease phenotype-associated
VAR_006614 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006615 commonName VAR_006615
VAR_006615 disease phenotype-associated
VAR_006615 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006616 commonName VAR_006616
VAR_006616 disease phenotype-associated
VAR_006616 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006618 commonName VAR_006618
VAR_006618 disease phenotype-associated
VAR_006618 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006619 commonName VAR_006619
VAR_006619 disease phenotype-associated
VAR_006619 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006620 commonName VAR_006620
VAR_006620 disease phenotype-associated
VAR_006620 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006621 commonName VAR_006621
VAR_006621 disease phenotype-associated
VAR_006621 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_006622 commonName VAR_006622
VAR_006622 disease phenotype-associated
VAR_006622 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_006623 commonName VAR_006623
VAR_006623 disease phenotype-associated
VAR_006623 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_006624 commonName VAR_006624
VAR_006624 disease phenotype-associated
VAR_006624 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_006625 commonName VAR_006625
VAR_006625 disease not phenotype-associated
VAR_006626 commonName VAR_006626
VAR_006626 disease not phenotype-associated
VAR_006627 commonName VAR_006627
VAR_006627 disease phenotype-associated
VAR_006627 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_006628 commonName VAR_006628
VAR_006628 disease phenotype-associated
VAR_006628 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_006629 commonName VAR_006629
VAR_006629 disease phenotype-associated
VAR_006629 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_006630 commonName VAR_006630
VAR_006630 disease phenotype-associated
VAR_006630 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_006631 commonName VAR_006631
VAR_006631 disease not phenotype-associated
VAR_006632 commonName VAR_006632
VAR_006632 disease not phenotype-associated
VAR_006634 commonName VAR_006634
VAR_006635 commonName VAR_006635
VAR_006635 disease phenotype-associated
VAR_006635 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006636 commonName VAR_006636
VAR_006637 commonName VAR_006637
VAR_006638 commonName VAR_006638
VAR_006639 commonName VAR_006639
VAR_006639 disease not phenotype-associated
VAR_006640 commonName VAR_006640
VAR_006641 commonName VAR_006641
VAR_006642 commonName VAR_006642
VAR_006642 disease phenotype-associated
VAR_006642 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006643 commonName VAR_006643
VAR_006644 commonName VAR_006644
VAR_006645 commonName VAR_006645
VAR_006645 disease phenotype-associated
VAR_006645 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006646 commonName VAR_006646
VAR_006646 disease phenotype-associated
VAR_006646 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006647 commonName VAR_006647
VAR_006648 commonName VAR_006648
VAR_006649 commonName VAR_006649
VAR_006651 commonName VAR_006651
VAR_006651 disease phenotype-associated
VAR_006651 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006652 commonName VAR_006652
VAR_006656 commonName VAR_006656
VAR_006656 disease phenotype-associated
VAR_006656 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006657 commonName VAR_006657
VAR_006658 commonName VAR_006658
VAR_006659 commonName VAR_006659
VAR_006660 commonName VAR_006660
VAR_006660 disease phenotype-associated
VAR_006660 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006661 commonName VAR_006661
VAR_006662 commonName VAR_006662
VAR_006663 commonName VAR_006663
VAR_006664 commonName VAR_006664
VAR_006664 disease phenotype-associated
VAR_006664 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006665 commonName VAR_006665
VAR_006665 disease phenotype-associated
VAR_006665 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006666 commonName VAR_006666
VAR_006666 disease not phenotype-associated
VAR_006667 commonName VAR_006667
VAR_006668 commonName VAR_006668
VAR_006668 disease phenotype-associated
VAR_006668 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006669 commonName VAR_006669
VAR_006669 disease phenotype-associated
VAR_006669 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006670 commonName VAR_006670
VAR_006671 commonName VAR_006671
VAR_006671 disease phenotype-associated
VAR_006671 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006672 commonName VAR_006672
VAR_006673 commonName VAR_006673
VAR_006674 commonName VAR_006674
VAR_006675 commonName VAR_006675
VAR_006676 commonName VAR_006676
VAR_006677 commonName VAR_006677
VAR_006677 disease phenotype-associated
VAR_006677 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006679 commonName VAR_006679
VAR_006679 disease phenotype-associated
VAR_006679 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006680 commonName VAR_006680
VAR_006681 commonName VAR_006681
VAR_006682 commonName VAR_006682
VAR_006683 commonName VAR_006683
VAR_006684 commonName VAR_006684
VAR_006685 commonName VAR_006685
VAR_006686 commonName VAR_006686
VAR_006687 commonName VAR_006687
VAR_006687 disease phenotype-associated
VAR_006687 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006688 commonName VAR_006688
VAR_006688 disease phenotype-associated
VAR_006688 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006689 commonName VAR_006689
VAR_006689 disease phenotype-associated
VAR_006689 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006690 commonName VAR_006690
VAR_006690 disease phenotype-associated
VAR_006690 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006691 commonName VAR_006691
VAR_006691 disease phenotype-associated
VAR_006691 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006692 commonName VAR_006692
VAR_006692 disease phenotype-associated
VAR_006692 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006693 commonName VAR_006693
VAR_006695 commonName VAR_006695
VAR_006695 disease phenotype-associated
VAR_006695 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006696 commonName VAR_006696
VAR_006696 disease phenotype-associated
VAR_006696 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006697 commonName VAR_006697
VAR_006698 commonName VAR_006698
VAR_006699 commonName VAR_006699
VAR_006700 commonName VAR_006700
VAR_006700 disease phenotype-associated
VAR_006700 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006701 commonName VAR_006701
VAR_006702 commonName VAR_006702
VAR_006702 disease phenotype-associated
VAR_006702 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006703 commonName VAR_006703
VAR_006703 disease phenotype-associated
VAR_006703 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
VAR_006704 commonName VAR_006704
VAR_006704 disease phenotype-associated
VAR_006704 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006705 commonName VAR_006705
VAR_006705 disease phenotype-associated
VAR_006705 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006706 commonName VAR_006706
VAR_006707 commonName VAR_006707
VAR_006707 disease phenotype-associated
VAR_006707 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006708 commonName VAR_006708
VAR_006708 disease phenotype-associated
VAR_006708 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006709 commonName VAR_006709
VAR_006709 disease phenotype-associated
VAR_006709 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_006710 commonName VAR_006710
VAR_006711 commonName VAR_006711
VAR_006711 disease phenotype-associated
VAR_006711 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006712 commonName VAR_006712
VAR_006712 disease phenotype-associated
VAR_006712 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006713 commonName VAR_006713
VAR_006713 disease phenotype-associated
VAR_006713 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006714 commonName VAR_006714
VAR_006714 disease phenotype-associated
VAR_006714 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006715 commonName VAR_006715
VAR_006715 disease phenotype-associated
VAR_006715 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006716 commonName VAR_006716
VAR_006716 disease phenotype-associated
VAR_006716 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006717 commonName VAR_006717
VAR_006717 disease phenotype-associated
VAR_006717 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006718 commonName VAR_006718
VAR_006718 disease phenotype-associated
VAR_006718 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006719 commonName VAR_006719
VAR_006719 disease phenotype-associated
VAR_006719 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_006720 commonName VAR_006720
VAR_006720 disease phenotype-associated
VAR_006720 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_006721 commonName VAR_006721
VAR_006721 disease phenotype-associated
VAR_006721 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_006722 commonName VAR_006722
VAR_006722 disease not phenotype-associated
VAR_006724 commonName VAR_006724
VAR_006724 disease not phenotype-associated
VAR_006725 commonName VAR_006725
VAR_006725 disease phenotype-associated
VAR_006725 phenoCommon Pycnodysostosis (PKND) [MIM:265800]
VAR_006726 commonName VAR_006726
VAR_006726 disease phenotype-associated
VAR_006726 phenoCommon Pycnodysostosis (PKND) [MIM:265800]
VAR_006727 commonName VAR_006727
VAR_006727 disease not phenotype-associated
VAR_006728 commonName VAR_006728
VAR_006728 disease not phenotype-associated
VAR_006729 commonName VAR_006729
VAR_006729 disease not phenotype-associated
VAR_006730 commonName VAR_006730
VAR_006730 disease not phenotype-associated
VAR_006731 commonName VAR_006731
VAR_006732 commonName VAR_006732
VAR_006732 disease not phenotype-associated
VAR_006733 commonName VAR_006733
VAR_006733 disease not phenotype-associated
VAR_006734 commonName VAR_006734
VAR_006735 commonName VAR_006735
VAR_006736 commonName VAR_006736
VAR_006737 commonName VAR_006737
VAR_006737 disease not phenotype-associated
VAR_006738 commonName VAR_006738
VAR_006738 disease phenotype-associated
VAR_006738 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006739 commonName VAR_006739
VAR_006739 disease phenotype-associated
VAR_006739 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006740 commonName VAR_006740
VAR_006740 disease phenotype-associated
VAR_006740 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006741 commonName VAR_006741
VAR_006741 disease phenotype-associated
VAR_006741 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006742 commonName VAR_006742
VAR_006742 disease phenotype-associated
VAR_006742 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006743 commonName VAR_006743
VAR_006743 disease phenotype-associated
VAR_006743 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006744 commonName VAR_006744
VAR_006744 disease phenotype-associated
VAR_006744 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006745 commonName VAR_006745
VAR_006745 disease phenotype-associated
VAR_006745 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006746 commonName VAR_006746
VAR_006746 disease phenotype-associated
VAR_006746 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_006747 commonName VAR_006747
VAR_006747 disease phenotype-associated
VAR_006747 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
VAR_006748 commonName VAR_006748
VAR_006748 disease phenotype-associated
VAR_006748 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
VAR_006749 commonName VAR_006749
VAR_006749 disease phenotype-associated
VAR_006749 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
VAR_006750 commonName VAR_006750
VAR_006750 disease phenotype-associated
VAR_006750 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006751 commonName VAR_006751
VAR_006751 disease phenotype-associated
VAR_006751 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006752 commonName VAR_006752
VAR_006752 disease phenotype-associated
VAR_006752 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006753 commonName VAR_006753
VAR_006753 disease phenotype-associated
VAR_006753 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006754 commonName VAR_006754
VAR_006754 disease phenotype-associated
VAR_006754 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006755 commonName VAR_006755
VAR_006755 disease phenotype-associated
VAR_006755 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006756 commonName VAR_006756
VAR_006756 disease phenotype-associated
VAR_006756 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006757 commonName VAR_006757
VAR_006757 disease phenotype-associated
VAR_006757 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006758 commonName VAR_006758
VAR_006758 disease phenotype-associated
VAR_006758 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006760 commonName VAR_006760
VAR_006760 disease phenotype-associated
VAR_006760 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006761 commonName VAR_006761
VAR_006761 disease phenotype-associated
VAR_006761 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006762 commonName VAR_006762
VAR_006762 disease phenotype-associated
VAR_006762 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006763 commonName VAR_006763
VAR_006763 disease phenotype-associated
VAR_006763 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006764 commonName VAR_006764
VAR_006764 disease phenotype-associated
VAR_006764 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006765 commonName VAR_006765
VAR_006765 disease phenotype-associated
VAR_006765 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006766 commonName VAR_006766
VAR_006767 commonName VAR_006767
VAR_006767 disease phenotype-associated
VAR_006767 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006768 commonName VAR_006768
VAR_006768 disease phenotype-associated
VAR_006768 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006769 commonName VAR_006769
VAR_006769 disease phenotype-associated
VAR_006769 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006770 commonName VAR_006770
VAR_006770 disease phenotype-associated
VAR_006770 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006771 commonName VAR_006771
VAR_006771 disease phenotype-associated
VAR_006771 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006772 commonName VAR_006772
VAR_006773 commonName VAR_006773
VAR_006773 disease phenotype-associated
VAR_006773 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006774 commonName VAR_006774
VAR_006774 disease phenotype-associated
VAR_006774 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006775 commonName VAR_006775
VAR_006775 disease phenotype-associated
VAR_006775 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006776 commonName VAR_006776
VAR_006776 disease phenotype-associated
VAR_006776 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006777 commonName VAR_006777
VAR_006777 disease phenotype-associated
VAR_006777 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006778 commonName VAR_006778
VAR_006778 disease phenotype-associated
VAR_006778 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006779 commonName VAR_006779
VAR_006779 disease phenotype-associated
VAR_006779 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006780 commonName VAR_006780
VAR_006780 disease phenotype-associated
VAR_006780 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006781 commonName VAR_006781
VAR_006781 disease phenotype-associated
VAR_006781 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006782 commonName VAR_006782
VAR_006782 disease phenotype-associated
VAR_006782 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006783 commonName VAR_006783
VAR_006783 disease phenotype-associated
VAR_006783 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006784 commonName VAR_006784
VAR_006784 disease phenotype-associated
VAR_006784 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006785 commonName VAR_006785
VAR_006785 disease phenotype-associated
VAR_006785 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006787 commonName VAR_006787
VAR_006787 disease phenotype-associated
VAR_006787 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006788 commonName VAR_006788
VAR_006788 disease phenotype-associated
VAR_006788 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006789 commonName VAR_006789
VAR_006789 disease phenotype-associated
VAR_006789 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006790 commonName VAR_006790
VAR_006790 disease phenotype-associated
VAR_006790 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006791 commonName VAR_006791
VAR_006791 disease phenotype-associated
VAR_006791 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006792 commonName VAR_006792
VAR_006792 disease phenotype-associated
VAR_006792 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006795 commonName VAR_006795
VAR_006796 commonName VAR_006796
VAR_006796 disease phenotype-associated
VAR_006796 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006797 commonName VAR_006797
VAR_006797 disease phenotype-associated
VAR_006797 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006798 commonName VAR_006798
VAR_006798 disease phenotype-associated
VAR_006798 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006799 commonName VAR_006799
VAR_006799 disease phenotype-associated
VAR_006799 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006800 commonName VAR_006800
VAR_006800 disease phenotype-associated
VAR_006800 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006801 commonName VAR_006801
VAR_006801 disease phenotype-associated
VAR_006801 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006802 commonName VAR_006802
VAR_006802 disease phenotype-associated
VAR_006802 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323]
VAR_006803 commonName VAR_006803
VAR_006803 disease phenotype-associated
VAR_006803 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006804 commonName VAR_006804
VAR_006804 disease phenotype-associated
VAR_006804 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006805 commonName VAR_006805
VAR_006805 disease phenotype-associated
VAR_006805 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006806 commonName VAR_006806
VAR_006806 disease phenotype-associated
VAR_006806 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322]
VAR_006807 commonName VAR_006807
VAR_006807 disease phenotype-associated
VAR_006807 phenoCommon Orotic aciduria type 1 (ORAC1) [MIM:258900]
VAR_006808 commonName VAR_006808
VAR_006808 disease phenotype-associated
VAR_006808 phenoCommon Orotic aciduria type 1 (ORAC1) [MIM:258900]
VAR_006809 commonName VAR_006809
VAR_006809 disease not phenotype-associated
VAR_006811 commonName VAR_006811
VAR_006811 disease phenotype-associated
VAR_006811 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_006813 commonName VAR_006813
VAR_006813 disease phenotype-associated
VAR_006813 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_006814 commonName VAR_006814
VAR_006814 disease phenotype-associated
VAR_006814 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_006815 commonName VAR_006815
VAR_006815 disease phenotype-associated
VAR_006815 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_006816 commonName VAR_006816
VAR_006816 disease phenotype-associated
VAR_006816 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006817 commonName VAR_006817
VAR_006817 disease phenotype-associated
VAR_006817 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006818 commonName VAR_006818
VAR_006818 disease phenotype-associated
VAR_006818 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006819 commonName VAR_006819
VAR_006819 disease phenotype-associated
VAR_006819 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006820 commonName VAR_006820
VAR_006820 disease phenotype-associated
VAR_006820 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006821 commonName VAR_006821
VAR_006821 disease phenotype-associated
VAR_006821 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006822 commonName VAR_006822
VAR_006822 disease phenotype-associated
VAR_006822 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006824 commonName VAR_006824
VAR_006824 disease phenotype-associated
VAR_006824 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006825 commonName VAR_006825
VAR_006825 disease phenotype-associated
VAR_006825 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006826 commonName VAR_006826
VAR_006826 disease phenotype-associated
VAR_006826 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006827 commonName VAR_006827
VAR_006827 disease phenotype-associated
VAR_006827 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006828 commonName VAR_006828
VAR_006828 disease phenotype-associated
VAR_006828 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006829 commonName VAR_006829
VAR_006829 disease phenotype-associated
VAR_006829 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006830 commonName VAR_006830
VAR_006830 disease phenotype-associated
VAR_006830 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006831 commonName VAR_006831
VAR_006831 disease phenotype-associated
VAR_006831 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006832 commonName VAR_006832
VAR_006832 disease phenotype-associated
VAR_006832 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006833 commonName VAR_006833
VAR_006833 disease phenotype-associated
VAR_006833 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_006834 commonName VAR_006834
VAR_006834 disease not phenotype-associated
VAR_006835 commonName VAR_006835
VAR_006835 disease phenotype-associated
VAR_006835 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_006836 commonName VAR_006836
VAR_006836 disease phenotype-associated
VAR_006836 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
VAR_006836 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_006837 commonName VAR_006837
VAR_006837 disease phenotype-associated
VAR_006837 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
VAR_006837 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_006837 phenoCommon Oral squamous cell carcinoma (OSCC)
VAR_006838 comment Melanoma
VAR_006838 commonName VAR_006838
VAR_006839 comment Lung carcinoma
VAR_006839 commonName VAR_006839
VAR_006840 comment Lung carcinoma
VAR_006840 commonName VAR_006840
VAR_006840 disease phenotype-associated
VAR_006840 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_006841 comment Lung carcinoma
VAR_006841 commonName VAR_006841
VAR_006845 comment Colorectal cancer
VAR_006845 commonName VAR_006845
VAR_006846 commonName VAR_006846
VAR_006847 comment Lung carcinoma cell
VAR_006847 commonName VAR_006847
VAR_006848 comment An ovarian cancer sample
VAR_006848 commonName VAR_006848
VAR_006849 commonName VAR_006849
VAR_006849 disease not phenotype-associated
VAR_006853 commonName VAR_006853
VAR_006853 disease phenotype-associated
VAR_006853 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006854 commonName VAR_006854
VAR_006855 commonName VAR_006855
VAR_006855 disease phenotype-associated
VAR_006855 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006857 commonName VAR_006857
VAR_006857 disease phenotype-associated
VAR_006857 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006859 commonName VAR_006859
VAR_006859 disease phenotype-associated
VAR_006859 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006860 commonName VAR_006860
VAR_006860 disease phenotype-associated
VAR_006860 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006861 commonName VAR_006861
VAR_006861 disease phenotype-associated
VAR_006861 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006863 commonName VAR_006863
VAR_006863 disease phenotype-associated
VAR_006863 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006864 commonName VAR_006864
VAR_006864 disease phenotype-associated
VAR_006864 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006865 commonName VAR_006865
VAR_006865 disease phenotype-associated
VAR_006865 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006866 commonName VAR_006866
VAR_006866 disease phenotype-associated
VAR_006866 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006867 commonName VAR_006867
VAR_006868 commonName VAR_006868
VAR_006869 commonName VAR_006869
VAR_006869 disease phenotype-associated
VAR_006869 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006870 commonName VAR_006870
VAR_006871 commonName VAR_006871
VAR_006871 disease phenotype-associated
VAR_006871 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006873 commonName VAR_006873
VAR_006873 disease phenotype-associated
VAR_006873 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006874 commonName VAR_006874
VAR_006874 disease phenotype-associated
VAR_006874 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006874 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006875 commonName VAR_006875
VAR_006875 disease phenotype-associated
VAR_006875 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006876 commonName VAR_006876
VAR_006876 disease phenotype-associated
VAR_006876 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006877 commonName VAR_006877
VAR_006877 disease phenotype-associated
VAR_006877 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006878 commonName VAR_006878
VAR_006878 disease phenotype-associated
VAR_006878 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_006879 commonName VAR_006879
VAR_006879 disease phenotype-associated
VAR_006879 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006880 commonName VAR_006880
VAR_006880 disease phenotype-associated
VAR_006880 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006881 commonName VAR_006881
VAR_006881 disease phenotype-associated
VAR_006881 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006882 commonName VAR_006882
VAR_006882 disease phenotype-associated
VAR_006882 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006883 commonName VAR_006883
VAR_006885 commonName VAR_006885
VAR_006885 disease phenotype-associated
VAR_006885 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006886 commonName VAR_006886
VAR_006886 disease phenotype-associated
VAR_006886 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_006887 commonName VAR_006887
VAR_006887 disease phenotype-associated
VAR_006887 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006888 commonName VAR_006888
VAR_006889 commonName VAR_006889
VAR_006889 disease phenotype-associated
VAR_006889 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133]
VAR_006890 commonName VAR_006890
VAR_006890 disease phenotype-associated
VAR_006890 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_006891 commonName VAR_006891
VAR_006891 disease not phenotype-associated
VAR_006892 commonName VAR_006892
VAR_006892 disease phenotype-associated
VAR_006892 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_006893 commonName VAR_006893
VAR_006893 disease not phenotype-associated
VAR_006894 commonName VAR_006894
VAR_006894 disease not phenotype-associated
VAR_006895 commonName VAR_006895
VAR_006895 disease not phenotype-associated
VAR_006896 commonName VAR_006896
VAR_006896 disease not phenotype-associated
VAR_006897 commonName VAR_006897
VAR_006897 disease not phenotype-associated
VAR_006898 commonName VAR_006898
VAR_006898 disease not phenotype-associated
VAR_006899 commonName VAR_006899
VAR_006899 disease not phenotype-associated
VAR_006900 commonName VAR_006900
VAR_006900 disease not phenotype-associated
VAR_006901 commonName VAR_006901
VAR_006901 disease phenotype-associated
VAR_006901 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_006902 commonName VAR_006902
VAR_006902 disease phenotype-associated
VAR_006902 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_006903 commonName VAR_006903
VAR_006903 disease phenotype-associated
VAR_006903 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_006904 commonName VAR_006904
VAR_006904 disease not phenotype-associated
VAR_006905 commonName VAR_006905
VAR_006905 disease not phenotype-associated
VAR_006907 commonName VAR_006907
VAR_006911 commonName VAR_006911
VAR_006912 commonName VAR_006912
VAR_006913 commonName VAR_006913
VAR_006914 commonName VAR_006914
VAR_006914 disease not phenotype-associated
VAR_006915 commonName VAR_006915
VAR_006915 disease not phenotype-associated
VAR_006916 commonName VAR_006916
VAR_006916 disease not phenotype-associated
VAR_006917 commonName VAR_006917
VAR_006917 disease not phenotype-associated
VAR_006918 commonName VAR_006918
VAR_006918 disease not phenotype-associated
VAR_006919 commonName VAR_006919
VAR_006920 commonName VAR_006920
VAR_006920 disease not phenotype-associated
VAR_006921 commonName VAR_006921
VAR_006921 disease phenotype-associated
VAR_006921 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
VAR_006922 commonName VAR_006922
VAR_006922 disease not phenotype-associated
VAR_006924 commonName VAR_006924
VAR_006924 disease phenotype-associated
VAR_006924 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_006934 commonName VAR_006934
VAR_006934 disease not phenotype-associated
VAR_006935 commonName VAR_006935
VAR_006935 disease phenotype-associated
VAR_006935 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006936 commonName VAR_006936
VAR_006936 disease phenotype-associated
VAR_006936 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006937 commonName VAR_006937
VAR_006937 disease phenotype-associated
VAR_006937 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006938 commonName VAR_006938
VAR_006938 disease phenotype-associated
VAR_006938 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006939 commonName VAR_006939
VAR_006939 disease phenotype-associated
VAR_006939 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006940 commonName VAR_006940
VAR_006940 disease phenotype-associated
VAR_006940 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006941 commonName VAR_006941
VAR_006941 disease phenotype-associated
VAR_006941 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006942 commonName VAR_006942
VAR_006942 disease phenotype-associated
VAR_006942 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_006943 commonName VAR_006943
VAR_006943 disease phenotype-associated
VAR_006943 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
VAR_006944 commonName VAR_006944
VAR_006944 disease phenotype-associated
VAR_006944 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
VAR_006945 commonName VAR_006945
VAR_006945 disease phenotype-associated
VAR_006945 phenoCommon Atypical Gaucher disease (AGD) [MIM:610539]
VAR_006947 commonName VAR_006947
VAR_006947 disease phenotype-associated
VAR_006947 phenoCommon GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]
VAR_006951 commonName VAR_006951
VAR_006951 disease not phenotype-associated
VAR_006952 commonName VAR_006952
VAR_006952 disease not phenotype-associated
VAR_006953 commonName VAR_006953
VAR_006953 disease phenotype-associated
VAR_006953 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_006954 commonName VAR_006954
VAR_006954 disease phenotype-associated
VAR_006954 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_006955 commonName VAR_006955
VAR_006955 disease phenotype-associated
VAR_006955 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_006956 commonName VAR_006956
VAR_006956 disease phenotype-associated
VAR_006956 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_006957 commonName VAR_006957
VAR_006957 disease phenotype-associated
VAR_006957 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_006958 commonName VAR_006958
VAR_006958 disease phenotype-associated
VAR_006958 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_006959 commonName VAR_006959
VAR_006959 disease phenotype-associated
VAR_006959 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_006960 commonName VAR_006960
VAR_006960 disease phenotype-associated
VAR_006960 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006961 commonName VAR_006961
VAR_006961 disease phenotype-associated
VAR_006961 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006962 commonName VAR_006962
VAR_006962 disease phenotype-associated
VAR_006962 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006963 commonName VAR_006963
VAR_006963 disease phenotype-associated
VAR_006963 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006965 commonName VAR_006965
VAR_006965 disease phenotype-associated
VAR_006965 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006966 commonName VAR_006966
VAR_006966 disease phenotype-associated
VAR_006966 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006967 commonName VAR_006967
VAR_006967 disease phenotype-associated
VAR_006967 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006968 commonName VAR_006968
VAR_006968 disease phenotype-associated
VAR_006968 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006969 commonName VAR_006969
VAR_006969 disease phenotype-associated
VAR_006969 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006970 commonName VAR_006970
VAR_006970 disease phenotype-associated
VAR_006970 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_006973 commonName VAR_006973
VAR_006973 disease not phenotype-associated
VAR_006974 commonName VAR_006974
VAR_006974 disease not phenotype-associated
VAR_006975 commonName VAR_006975
VAR_006975 disease not phenotype-associated
VAR_006976 commonName VAR_006976
VAR_006976 disease not phenotype-associated
VAR_006977 commonName VAR_006977
VAR_006978 commonName VAR_006978
VAR_006979 commonName VAR_006979
VAR_006980 commonName VAR_006980
VAR_006981 commonName VAR_006981
VAR_006981 disease not phenotype-associated
VAR_006982 commonName VAR_006982
VAR_006982 disease not phenotype-associated
VAR_006983 commonName VAR_006983
VAR_006985 commonName VAR_006985
VAR_006985 disease not phenotype-associated
VAR_006986 commonName VAR_006986
VAR_006987 commonName VAR_006987
VAR_006987 disease not phenotype-associated
VAR_006988 commonName VAR_006988
VAR_006989 commonName VAR_006989
VAR_006990 commonName VAR_006990
VAR_006990 disease not phenotype-associated
VAR_006991 commonName VAR_006991
VAR_006991 disease not phenotype-associated
VAR_006992 commonName VAR_006992
VAR_006992 disease not phenotype-associated
VAR_006993 commonName VAR_006993
VAR_006994 commonName VAR_006994
VAR_006995 commonName VAR_006995
VAR_006996 commonName VAR_006996
VAR_006997 commonName VAR_006997
VAR_006997 disease not phenotype-associated
VAR_006998 commonName VAR_006998
VAR_006998 disease not phenotype-associated
VAR_006999 commonName VAR_006999
VAR_006999 disease not phenotype-associated
VAR_007000 commonName VAR_007000
VAR_007000 disease not phenotype-associated
VAR_007001 commonName VAR_007001
VAR_007002 commonName VAR_007002
VAR_007002 disease not phenotype-associated
VAR_007003 commonName VAR_007003
VAR_007004 commonName VAR_007004
VAR_007004 disease not phenotype-associated
VAR_007005 commonName VAR_007005
VAR_007006 commonName VAR_007006
VAR_007007 commonName VAR_007007
VAR_007008 commonName VAR_007008
VAR_007009 commonName VAR_007009
VAR_007010 commonName VAR_007010
VAR_007010 disease not phenotype-associated
VAR_007011 commonName VAR_007011
VAR_007013 commonName VAR_007013
VAR_007013 disease phenotype-associated
VAR_007013 phenoCommon Hereditary angioedema (HAE) [MIM:106100]
VAR_007032 commonName VAR_007032
VAR_007032 disease not phenotype-associated
VAR_007033 commonName VAR_007033
VAR_007033 disease phenotype-associated
VAR_007033 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007034 commonName VAR_007034
VAR_007035 commonName VAR_007035
VAR_007035 disease phenotype-associated
VAR_007035 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007036 commonName VAR_007036
VAR_007036 disease phenotype-associated
VAR_007036 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007037 commonName VAR_007037
VAR_007037 disease phenotype-associated
VAR_007037 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007038 commonName VAR_007038
VAR_007038 disease phenotype-associated
VAR_007038 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007039 commonName VAR_007039
VAR_007039 disease phenotype-associated
VAR_007039 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007041 commonName VAR_007041
VAR_007041 disease phenotype-associated
VAR_007041 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007042 commonName VAR_007042
VAR_007042 disease phenotype-associated
VAR_007042 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007044 commonName VAR_007044
VAR_007044 disease phenotype-associated
VAR_007044 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007045 commonName VAR_007045
VAR_007045 disease phenotype-associated
VAR_007045 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007046 commonName VAR_007046
VAR_007046 disease phenotype-associated
VAR_007046 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007047 commonName VAR_007047
VAR_007047 disease phenotype-associated
VAR_007047 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007049 commonName VAR_007049
VAR_007049 disease phenotype-associated
VAR_007049 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007050 commonName VAR_007050
VAR_007050 disease phenotype-associated
VAR_007050 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007051 commonName VAR_007051
VAR_007051 disease phenotype-associated
VAR_007051 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007053 commonName VAR_007053
VAR_007053 disease phenotype-associated
VAR_007053 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007054 commonName VAR_007054
VAR_007054 disease phenotype-associated
VAR_007054 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007055 commonName VAR_007055
VAR_007055 disease not phenotype-associated
VAR_007056 commonName VAR_007056
VAR_007056 disease phenotype-associated
VAR_007056 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007057 commonName VAR_007057
VAR_007057 disease phenotype-associated
VAR_007057 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007058 commonName VAR_007058
VAR_007058 disease phenotype-associated
VAR_007058 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007059 commonName VAR_007059
VAR_007059 disease phenotype-associated
VAR_007059 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007060 commonName VAR_007060
VAR_007060 disease phenotype-associated
VAR_007060 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007062 commonName VAR_007062
VAR_007062 disease phenotype-associated
VAR_007062 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007063 commonName VAR_007063
VAR_007063 disease phenotype-associated
VAR_007063 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007064 commonName VAR_007064
VAR_007064 disease phenotype-associated
VAR_007064 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007065 commonName VAR_007065
VAR_007065 disease phenotype-associated
VAR_007065 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007067 commonName VAR_007067
VAR_007067 disease phenotype-associated
VAR_007067 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007068 commonName VAR_007068
VAR_007068 disease not phenotype-associated
VAR_007069 commonName VAR_007069
VAR_007069 disease phenotype-associated
VAR_007069 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007070 commonName VAR_007070
VAR_007070 disease phenotype-associated
VAR_007070 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007071 commonName VAR_007071
VAR_007071 disease phenotype-associated
VAR_007071 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007072 commonName VAR_007072
VAR_007072 disease phenotype-associated
VAR_007072 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007073 commonName VAR_007073
VAR_007073 disease phenotype-associated
VAR_007073 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007074 commonName VAR_007074
VAR_007074 disease phenotype-associated
VAR_007074 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007075 commonName VAR_007075
VAR_007075 disease phenotype-associated
VAR_007075 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007076 commonName VAR_007076
VAR_007076 disease phenotype-associated
VAR_007076 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007077 commonName VAR_007077
VAR_007077 disease phenotype-associated
VAR_007077 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007078 commonName VAR_007078
VAR_007078 disease phenotype-associated
VAR_007078 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007079 commonName VAR_007079
VAR_007079 disease phenotype-associated
VAR_007079 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007080 commonName VAR_007080
VAR_007080 disease phenotype-associated
VAR_007080 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007081 commonName VAR_007081
VAR_007081 disease phenotype-associated
VAR_007081 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007082 commonName VAR_007082
VAR_007082 disease phenotype-associated
VAR_007082 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007083 commonName VAR_007083
VAR_007083 disease phenotype-associated
VAR_007083 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007084 commonName VAR_007084
VAR_007084 disease phenotype-associated
VAR_007084 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007085 commonName VAR_007085
VAR_007085 disease phenotype-associated
VAR_007085 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007086 commonName VAR_007086
VAR_007086 disease phenotype-associated
VAR_007086 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007087 commonName VAR_007087
VAR_007087 disease phenotype-associated
VAR_007087 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007088 commonName VAR_007088
VAR_007088 disease phenotype-associated
VAR_007088 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007090 commonName VAR_007090
VAR_007090 disease phenotype-associated
VAR_007090 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007091 commonName VAR_007091
VAR_007091 disease phenotype-associated
VAR_007091 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007092 commonName VAR_007092
VAR_007092 disease phenotype-associated
VAR_007092 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_007093 commonName VAR_007093
VAR_007093 disease not phenotype-associated
VAR_007094 commonName VAR_007094
VAR_007095 commonName VAR_007095
VAR_007095 disease not phenotype-associated
VAR_007096 commonName VAR_007096
VAR_007096 disease not phenotype-associated
VAR_007097 commonName VAR_007097
VAR_007097 disease not phenotype-associated
VAR_007099 commonName VAR_007099
VAR_007099 disease not phenotype-associated
VAR_007100 commonName VAR_007100
VAR_007100 disease not phenotype-associated
VAR_007101 commonName VAR_007101
VAR_007101 disease not phenotype-associated
VAR_007102 commonName VAR_007102
VAR_007102 disease phenotype-associated
VAR_007102 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]
VAR_007103 commonName VAR_007103
VAR_007103 disease phenotype-associated
VAR_007103 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]
VAR_007104 commonName VAR_007104
VAR_007104 disease phenotype-associated
VAR_007104 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]
VAR_007105 commonName VAR_007105
VAR_007105 disease not phenotype-associated
VAR_007106 commonName VAR_007106
VAR_007106 disease not phenotype-associated
VAR_007107 commonName VAR_007107
VAR_007107 disease phenotype-associated
VAR_007107 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]
VAR_007111 commonName VAR_007111
VAR_007111 disease phenotype-associated
VAR_007111 phenoCommon Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]
VAR_007112 commonName VAR_007112
VAR_007112 disease phenotype-associated
VAR_007112 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
VAR_007113 commonName VAR_007113
VAR_007113 disease phenotype-associated
VAR_007113 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007114 commonName VAR_007114
VAR_007114 disease phenotype-associated
VAR_007114 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007115 commonName VAR_007115
VAR_007115 disease phenotype-associated
VAR_007115 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007116 commonName VAR_007116
VAR_007116 disease phenotype-associated
VAR_007116 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007117 commonName VAR_007117
VAR_007117 disease phenotype-associated
VAR_007117 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007119 commonName VAR_007119
VAR_007119 disease phenotype-associated
VAR_007119 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007120 commonName VAR_007120
VAR_007120 disease phenotype-associated
VAR_007120 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007121 commonName VAR_007121
VAR_007121 disease phenotype-associated
VAR_007121 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007122 commonName VAR_007122
VAR_007122 disease phenotype-associated
VAR_007122 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007123 commonName VAR_007123
VAR_007123 disease not phenotype-associated
VAR_007124 commonName VAR_007124
VAR_007124 disease phenotype-associated
VAR_007124 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007125 commonName VAR_007125
VAR_007125 disease phenotype-associated
VAR_007125 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007126 commonName VAR_007126
VAR_007126 disease phenotype-associated
VAR_007126 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_007127 commonName VAR_007127
VAR_007127 disease phenotype-associated
VAR_007127 phenoCommon Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]
VAR_007128 commonName VAR_007128
VAR_007128 disease phenotype-associated
VAR_007128 phenoCommon Liddle syndrome (LIDDS) [MIM:177200]
VAR_007129 commonName VAR_007129
VAR_007129 disease phenotype-associated
VAR_007129 phenoCommon Liddle syndrome (LIDDS) [MIM:177200]
VAR_007130 commonName VAR_007130
VAR_007130 disease phenotype-associated
VAR_007130 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007131 commonName VAR_007131
VAR_007131 disease phenotype-associated
VAR_007131 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007132 commonName VAR_007132
VAR_007132 disease phenotype-associated
VAR_007132 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007133 commonName VAR_007133
VAR_007133 disease phenotype-associated
VAR_007133 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007134 commonName VAR_007134
VAR_007134 disease phenotype-associated
VAR_007134 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007135 commonName VAR_007135
VAR_007135 disease phenotype-associated
VAR_007135 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007136 commonName VAR_007136
VAR_007136 disease phenotype-associated
VAR_007136 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007137 commonName VAR_007137
VAR_007137 disease phenotype-associated
VAR_007137 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007138 commonName VAR_007138
VAR_007138 disease phenotype-associated
VAR_007138 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007139 commonName VAR_007139
VAR_007139 disease phenotype-associated
VAR_007139 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007140 commonName VAR_007140
VAR_007140 disease phenotype-associated
VAR_007140 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007141 commonName VAR_007141
VAR_007141 disease phenotype-associated
VAR_007141 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007142 commonName VAR_007142
VAR_007142 disease phenotype-associated
VAR_007142 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007143 commonName VAR_007143
VAR_007143 disease phenotype-associated
VAR_007143 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007144 commonName VAR_007144
VAR_007144 disease phenotype-associated
VAR_007144 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007145 commonName VAR_007145
VAR_007145 disease phenotype-associated
VAR_007145 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007146 commonName VAR_007146
VAR_007146 disease phenotype-associated
VAR_007146 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007147 commonName VAR_007147
VAR_007147 disease phenotype-associated
VAR_007147 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007148 commonName VAR_007148
VAR_007148 disease phenotype-associated
VAR_007148 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007149 commonName VAR_007149
VAR_007149 disease phenotype-associated
VAR_007149 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007150 commonName VAR_007150
VAR_007150 disease phenotype-associated
VAR_007150 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007151 commonName VAR_007151
VAR_007151 disease phenotype-associated
VAR_007151 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007152 commonName VAR_007152
VAR_007152 disease phenotype-associated
VAR_007152 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007153 commonName VAR_007153
VAR_007153 disease phenotype-associated
VAR_007153 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007154 commonName VAR_007154
VAR_007154 disease phenotype-associated
VAR_007154 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007155 commonName VAR_007155
VAR_007155 disease phenotype-associated
VAR_007155 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007156 commonName VAR_007156
VAR_007156 disease phenotype-associated
VAR_007156 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007157 commonName VAR_007157
VAR_007157 disease phenotype-associated
VAR_007157 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007158 commonName VAR_007158
VAR_007158 disease phenotype-associated
VAR_007158 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007159 commonName VAR_007159
VAR_007159 disease phenotype-associated
VAR_007159 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007160 commonName VAR_007160
VAR_007160 disease phenotype-associated
VAR_007160 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007161 commonName VAR_007161
VAR_007161 disease phenotype-associated
VAR_007161 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007162 commonName VAR_007162
VAR_007162 disease phenotype-associated
VAR_007162 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007163 commonName VAR_007163
VAR_007163 disease phenotype-associated
VAR_007163 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007164 commonName VAR_007164
VAR_007164 disease phenotype-associated
VAR_007164 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_007165 commonName VAR_007165
VAR_007165 disease not phenotype-associated
VAR_007166 commonName VAR_007166
VAR_007166 disease not phenotype-associated
VAR_007168 commonName VAR_007168
VAR_007168 disease phenotype-associated
VAR_007168 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
VAR_007169 commonName VAR_007169
VAR_007169 disease not phenotype-associated
VAR_007170 commonName VAR_007170
VAR_007170 disease phenotype-associated
VAR_007170 phenoCommon Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_007171 commonName VAR_007171
VAR_007171 disease not phenotype-associated
VAR_007172 commonName VAR_007172
VAR_007172 disease phenotype-associated
VAR_007172 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007173 commonName VAR_007173
VAR_007173 disease phenotype-associated
VAR_007173 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007174 commonName VAR_007174
VAR_007174 disease not phenotype-associated
VAR_007175 commonName VAR_007175
VAR_007175 disease phenotype-associated
VAR_007175 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007177 commonName VAR_007177
VAR_007177 disease phenotype-associated
VAR_007177 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007178 commonName VAR_007178
VAR_007178 disease phenotype-associated
VAR_007178 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007179 commonName VAR_007179
VAR_007179 disease phenotype-associated
VAR_007179 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007180 commonName VAR_007180
VAR_007180 disease phenotype-associated
VAR_007180 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007181 commonName VAR_007181
VAR_007181 disease phenotype-associated
VAR_007181 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007182 commonName VAR_007182
VAR_007182 disease phenotype-associated
VAR_007182 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007183 commonName VAR_007183
VAR_007183 disease phenotype-associated
VAR_007183 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007184 commonName VAR_007184
VAR_007184 disease phenotype-associated
VAR_007184 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007185 commonName VAR_007185
VAR_007185 disease phenotype-associated
VAR_007185 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007186 commonName VAR_007186
VAR_007186 disease phenotype-associated
VAR_007186 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007187 commonName VAR_007187
VAR_007187 disease phenotype-associated
VAR_007187 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007188 commonName VAR_007188
VAR_007188 disease phenotype-associated
VAR_007188 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007189 commonName VAR_007189
VAR_007189 disease phenotype-associated
VAR_007189 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007190 commonName VAR_007190
VAR_007190 disease phenotype-associated
VAR_007190 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007191 commonName VAR_007191
VAR_007191 disease phenotype-associated
VAR_007191 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007192 commonName VAR_007192
VAR_007192 disease phenotype-associated
VAR_007192 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007193 commonName VAR_007193
VAR_007193 disease phenotype-associated
VAR_007193 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007194 commonName VAR_007194
VAR_007194 disease phenotype-associated
VAR_007194 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007195 commonName VAR_007195
VAR_007195 disease phenotype-associated
VAR_007195 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007196 commonName VAR_007196
VAR_007196 disease phenotype-associated
VAR_007196 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007197 commonName VAR_007197
VAR_007197 disease phenotype-associated
VAR_007197 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007198 commonName VAR_007198
VAR_007198 disease not phenotype-associated
VAR_007199 commonName VAR_007199
VAR_007199 disease phenotype-associated
VAR_007199 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007200 commonName VAR_007200
VAR_007200 disease phenotype-associated
VAR_007200 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007201 commonName VAR_007201
VAR_007201 disease phenotype-associated
VAR_007201 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007202 commonName VAR_007202
VAR_007202 disease not phenotype-associated
VAR_007203 commonName VAR_007203
VAR_007203 disease phenotype-associated
VAR_007203 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007204 commonName VAR_007204
VAR_007204 disease phenotype-associated
VAR_007204 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007205 commonName VAR_007205
VAR_007205 disease not phenotype-associated
VAR_007206 commonName VAR_007206
VAR_007206 disease phenotype-associated
VAR_007206 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007207 commonName VAR_007207
VAR_007207 disease phenotype-associated
VAR_007207 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007208 commonName VAR_007208
VAR_007208 disease phenotype-associated
VAR_007208 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007210 commonName VAR_007210
VAR_007210 disease phenotype-associated
VAR_007210 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007211 commonName VAR_007211
VAR_007211 disease phenotype-associated
VAR_007211 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007212 commonName VAR_007212
VAR_007212 disease phenotype-associated
VAR_007212 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007213 commonName VAR_007213
VAR_007213 disease phenotype-associated
VAR_007213 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007214 commonName VAR_007214
VAR_007214 disease phenotype-associated
VAR_007214 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007215 commonName VAR_007215
VAR_007215 disease phenotype-associated
VAR_007215 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007216 commonName VAR_007216
VAR_007216 disease phenotype-associated
VAR_007216 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007217 commonName VAR_007217
VAR_007217 disease phenotype-associated
VAR_007217 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007218 commonName VAR_007218
VAR_007218 disease phenotype-associated
VAR_007218 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007219 commonName VAR_007219
VAR_007219 disease phenotype-associated
VAR_007219 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007221 commonName VAR_007221
VAR_007221 disease phenotype-associated
VAR_007221 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007222 commonName VAR_007222
VAR_007222 disease phenotype-associated
VAR_007222 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007223 commonName VAR_007223
VAR_007223 disease phenotype-associated
VAR_007223 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007224 commonName VAR_007224
VAR_007224 disease phenotype-associated
VAR_007224 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007225 commonName VAR_007225
VAR_007225 disease phenotype-associated
VAR_007225 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007226 commonName VAR_007226
VAR_007226 disease phenotype-associated
VAR_007226 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007227 commonName VAR_007227
VAR_007227 disease phenotype-associated
VAR_007227 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007228 commonName VAR_007228
VAR_007228 disease phenotype-associated
VAR_007228 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007229 commonName VAR_007229
VAR_007229 disease phenotype-associated
VAR_007229 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007230 commonName VAR_007230
VAR_007230 disease not phenotype-associated
VAR_007231 commonName VAR_007231
VAR_007231 disease phenotype-associated
VAR_007231 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007232 commonName VAR_007232
VAR_007232 disease phenotype-associated
VAR_007232 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007233 commonName VAR_007233
VAR_007233 disease phenotype-associated
VAR_007233 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007234 commonName VAR_007234
VAR_007234 disease phenotype-associated
VAR_007234 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007235 commonName VAR_007235
VAR_007235 disease phenotype-associated
VAR_007235 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007236 commonName VAR_007236
VAR_007236 disease not phenotype-associated
VAR_007237 commonName VAR_007237
VAR_007237 disease phenotype-associated
VAR_007237 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007238 commonName VAR_007238
VAR_007238 disease not phenotype-associated
VAR_007239 commonName VAR_007239
VAR_007239 disease phenotype-associated
VAR_007239 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_007240 commonName VAR_007240
VAR_007240 disease phenotype-associated
VAR_007240 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_007241 commonName VAR_007241
VAR_007241 disease phenotype-associated
VAR_007241 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_007242 commonName VAR_007242
VAR_007242 disease phenotype-associated
VAR_007242 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_007243 commonName VAR_007243
VAR_007243 disease not phenotype-associated
VAR_007244 commonName VAR_007244
VAR_007244 disease phenotype-associated
VAR_007244 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007245 commonName VAR_007245
VAR_007245 disease phenotype-associated
VAR_007245 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007246 commonName VAR_007246
VAR_007246 disease phenotype-associated
VAR_007246 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007247 commonName VAR_007247
VAR_007247 disease phenotype-associated
VAR_007247 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007248 commonName VAR_007248
VAR_007248 disease phenotype-associated
VAR_007248 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007249 commonName VAR_007249
VAR_007249 disease phenotype-associated
VAR_007249 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007250 commonName VAR_007250
VAR_007250 disease phenotype-associated
VAR_007250 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007251 commonName VAR_007251
VAR_007251 disease phenotype-associated
VAR_007251 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007252 commonName VAR_007252
VAR_007252 disease phenotype-associated
VAR_007252 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007253 commonName VAR_007253
VAR_007253 disease phenotype-associated
VAR_007253 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007254 commonName VAR_007254
VAR_007254 disease phenotype-associated
VAR_007254 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007255 commonName VAR_007255
VAR_007255 disease phenotype-associated
VAR_007255 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007256 commonName VAR_007256
VAR_007256 disease phenotype-associated
VAR_007256 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007257 commonName VAR_007257
VAR_007257 disease phenotype-associated
VAR_007257 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007258 commonName VAR_007258
VAR_007258 disease phenotype-associated
VAR_007258 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007259 commonName VAR_007259
VAR_007259 disease phenotype-associated
VAR_007259 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007260 commonName VAR_007260
VAR_007260 disease phenotype-associated
VAR_007260 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007261 commonName VAR_007261
VAR_007261 disease phenotype-associated
VAR_007261 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007262 commonName VAR_007262
VAR_007262 disease not phenotype-associated
VAR_007263 commonName VAR_007263
VAR_007263 disease phenotype-associated
VAR_007263 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007264 commonName VAR_007264
VAR_007264 disease phenotype-associated
VAR_007264 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007265 commonName VAR_007265
VAR_007265 disease phenotype-associated
VAR_007265 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007266 commonName VAR_007266
VAR_007266 disease phenotype-associated
VAR_007266 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007267 commonName VAR_007267
VAR_007267 disease phenotype-associated
VAR_007267 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007268 commonName VAR_007268
VAR_007268 disease phenotype-associated
VAR_007268 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007269 commonName VAR_007269
VAR_007269 disease phenotype-associated
VAR_007269 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007270 commonName VAR_007270
VAR_007270 disease phenotype-associated
VAR_007270 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007271 commonName VAR_007271
VAR_007271 disease phenotype-associated
VAR_007271 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007272 commonName VAR_007272
VAR_007272 disease phenotype-associated
VAR_007272 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007273 commonName VAR_007273
VAR_007273 disease phenotype-associated
VAR_007273 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007274 commonName VAR_007274
VAR_007274 disease phenotype-associated
VAR_007274 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007275 commonName VAR_007275
VAR_007275 disease phenotype-associated
VAR_007275 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007276 commonName VAR_007276
VAR_007276 disease phenotype-associated
VAR_007276 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007277 commonName VAR_007277
VAR_007277 disease phenotype-associated
VAR_007277 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007278 commonName VAR_007278
VAR_007278 disease not phenotype-associated
VAR_007279 commonName VAR_007279
VAR_007279 disease phenotype-associated
VAR_007279 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007280 commonName VAR_007280
VAR_007280 disease phenotype-associated
VAR_007280 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007281 commonName VAR_007281
VAR_007281 disease phenotype-associated
VAR_007281 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007282 commonName VAR_007282
VAR_007282 disease phenotype-associated
VAR_007282 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007283 commonName VAR_007283
VAR_007283 disease phenotype-associated
VAR_007283 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007284 commonName VAR_007284
VAR_007284 disease phenotype-associated
VAR_007284 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007285 commonName VAR_007285
VAR_007285 disease phenotype-associated
VAR_007285 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007286 commonName VAR_007286
VAR_007286 disease phenotype-associated
VAR_007286 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007287 commonName VAR_007287
VAR_007287 disease not phenotype-associated
VAR_007288 commonName VAR_007288
VAR_007288 disease phenotype-associated
VAR_007288 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_007294 commonName VAR_007294
VAR_007294 disease phenotype-associated
VAR_007294 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007295 commonName VAR_007295
VAR_007295 disease phenotype-associated
VAR_007295 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007296 commonName VAR_007296
VAR_007296 disease phenotype-associated
VAR_007296 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007297 commonName VAR_007297
VAR_007297 disease phenotype-associated
VAR_007297 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007298 commonName VAR_007298
VAR_007298 disease phenotype-associated
VAR_007298 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007299 commonName VAR_007299
VAR_007299 disease phenotype-associated
VAR_007299 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007300 commonName VAR_007300
VAR_007300 disease phenotype-associated
VAR_007300 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007301 commonName VAR_007301
VAR_007301 disease phenotype-associated
VAR_007301 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007302 commonName VAR_007302
VAR_007302 disease phenotype-associated
VAR_007302 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007303 commonName VAR_007303
VAR_007303 disease not phenotype-associated
VAR_007304 commonName VAR_007304
VAR_007304 disease phenotype-associated
VAR_007304 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007305 commonName VAR_007305
VAR_007305 disease phenotype-associated
VAR_007305 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007306 commonName VAR_007306
VAR_007306 disease phenotype-associated
VAR_007306 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_007307 commonName VAR_007307
VAR_007307 disease phenotype-associated
VAR_007307 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007308 commonName VAR_007308
VAR_007308 disease phenotype-associated
VAR_007308 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007309 commonName VAR_007309
VAR_007309 disease phenotype-associated
VAR_007309 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007310 commonName VAR_007310
VAR_007310 disease phenotype-associated
VAR_007310 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007311 commonName VAR_007311
VAR_007311 disease phenotype-associated
VAR_007311 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007312 commonName VAR_007312
VAR_007312 disease phenotype-associated
VAR_007312 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_007313 commonName VAR_007313
VAR_007313 disease phenotype-associated
VAR_007313 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007314 commonName VAR_007314
VAR_007314 disease phenotype-associated
VAR_007314 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007315 commonName VAR_007315
VAR_007315 disease phenotype-associated
VAR_007315 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007316 commonName VAR_007316
VAR_007316 disease phenotype-associated
VAR_007316 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007317 commonName VAR_007317
VAR_007317 disease phenotype-associated
VAR_007317 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007318 commonName VAR_007318
VAR_007318 disease phenotype-associated
VAR_007318 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007319 commonName VAR_007319
VAR_007319 disease phenotype-associated
VAR_007319 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007320 commonName VAR_007320
VAR_007320 disease phenotype-associated
VAR_007320 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007321 commonName VAR_007321
VAR_007321 disease phenotype-associated
VAR_007321 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007322 commonName VAR_007322
VAR_007322 disease phenotype-associated
VAR_007322 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007323 commonName VAR_007323
VAR_007323 disease phenotype-associated
VAR_007323 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007324 commonName VAR_007324
VAR_007324 disease phenotype-associated
VAR_007324 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007325 commonName VAR_007325
VAR_007325 disease phenotype-associated
VAR_007325 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007326 commonName VAR_007326
VAR_007326 disease phenotype-associated
VAR_007326 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007327 commonName VAR_007327
VAR_007327 disease phenotype-associated
VAR_007327 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007328 commonName VAR_007328
VAR_007328 disease phenotype-associated
VAR_007328 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007329 commonName VAR_007329
VAR_007329 disease phenotype-associated
VAR_007329 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007330 commonName VAR_007330
VAR_007330 disease phenotype-associated
VAR_007330 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007331 commonName VAR_007331
VAR_007331 disease phenotype-associated
VAR_007331 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007332 commonName VAR_007332
VAR_007332 disease phenotype-associated
VAR_007332 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007333 commonName VAR_007333
VAR_007333 disease phenotype-associated
VAR_007333 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007334 commonName VAR_007334
VAR_007334 disease phenotype-associated
VAR_007334 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007335 commonName VAR_007335
VAR_007335 disease phenotype-associated
VAR_007335 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007336 commonName VAR_007336
VAR_007336 disease phenotype-associated
VAR_007336 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007337 commonName VAR_007337
VAR_007337 disease phenotype-associated
VAR_007337 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007338 commonName VAR_007338
VAR_007338 disease phenotype-associated
VAR_007338 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007339 commonName VAR_007339
VAR_007339 disease phenotype-associated
VAR_007339 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007340 commonName VAR_007340
VAR_007340 disease phenotype-associated
VAR_007340 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007341 commonName VAR_007341
VAR_007341 disease phenotype-associated
VAR_007341 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007342 commonName VAR_007342
VAR_007342 disease phenotype-associated
VAR_007342 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007344 commonName VAR_007344
VAR_007344 disease phenotype-associated
VAR_007344 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007345 commonName VAR_007345
VAR_007345 disease phenotype-associated
VAR_007345 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007346 commonName VAR_007346
VAR_007346 disease phenotype-associated
VAR_007346 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007347 commonName VAR_007347
VAR_007347 disease phenotype-associated
VAR_007347 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007348 commonName VAR_007348
VAR_007348 disease phenotype-associated
VAR_007348 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007349 commonName VAR_007349
VAR_007349 disease phenotype-associated
VAR_007349 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007350 commonName VAR_007350
VAR_007350 disease phenotype-associated
VAR_007350 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007351 commonName VAR_007351
VAR_007351 disease phenotype-associated
VAR_007351 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007352 commonName VAR_007352
VAR_007352 disease phenotype-associated
VAR_007352 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007353 commonName VAR_007353
VAR_007353 disease phenotype-associated
VAR_007353 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007354 commonName VAR_007354
VAR_007354 disease phenotype-associated
VAR_007354 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007355 commonName VAR_007355
VAR_007355 disease phenotype-associated
VAR_007355 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007356 commonName VAR_007356
VAR_007356 disease phenotype-associated
VAR_007356 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007357 commonName VAR_007357
VAR_007357 disease phenotype-associated
VAR_007357 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007358 commonName VAR_007358
VAR_007358 disease phenotype-associated
VAR_007358 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007359 commonName VAR_007359
VAR_007359 disease phenotype-associated
VAR_007359 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007360 commonName VAR_007360
VAR_007360 disease phenotype-associated
VAR_007360 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007361 commonName VAR_007361
VAR_007361 disease phenotype-associated
VAR_007361 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007362 commonName VAR_007362
VAR_007362 disease phenotype-associated
VAR_007362 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_007388 commonName VAR_007388
VAR_007388 disease phenotype-associated
VAR_007388 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007389 commonName VAR_007389
VAR_007389 disease phenotype-associated
VAR_007389 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007390 commonName VAR_007390
VAR_007390 disease phenotype-associated
VAR_007390 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007391 commonName VAR_007391
VAR_007391 disease phenotype-associated
VAR_007391 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007392 commonName VAR_007392
VAR_007392 disease phenotype-associated
VAR_007392 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007393 commonName VAR_007393
VAR_007393 disease phenotype-associated
VAR_007393 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007395 commonName VAR_007395
VAR_007395 disease phenotype-associated
VAR_007395 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007396 commonName VAR_007396
VAR_007396 disease phenotype-associated
VAR_007396 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007397 commonName VAR_007397
VAR_007397 disease phenotype-associated
VAR_007397 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007398 commonName VAR_007398
VAR_007398 disease phenotype-associated
VAR_007398 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007399 commonName VAR_007399
VAR_007399 disease phenotype-associated
VAR_007399 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007400 commonName VAR_007400
VAR_007400 disease phenotype-associated
VAR_007400 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007401 commonName VAR_007401
VAR_007401 disease phenotype-associated
VAR_007401 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007402 commonName VAR_007402
VAR_007402 disease phenotype-associated
VAR_007402 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007403 commonName VAR_007403
VAR_007403 disease phenotype-associated
VAR_007403 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007404 commonName VAR_007404
VAR_007404 disease phenotype-associated
VAR_007404 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007405 commonName VAR_007405
VAR_007405 disease phenotype-associated
VAR_007405 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007406 commonName VAR_007406
VAR_007406 disease phenotype-associated
VAR_007406 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007407 commonName VAR_007407
VAR_007407 disease not phenotype-associated
VAR_007408 commonName VAR_007408
VAR_007408 disease phenotype-associated
VAR_007408 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007409 commonName VAR_007409
VAR_007409 disease phenotype-associated
VAR_007409 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007410 commonName VAR_007410
VAR_007410 disease phenotype-associated
VAR_007410 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007411 commonName VAR_007411
VAR_007411 disease phenotype-associated
VAR_007411 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007412 commonName VAR_007412
VAR_007412 disease phenotype-associated
VAR_007412 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_007425 commonName VAR_007425
VAR_007425 disease not phenotype-associated
VAR_007426 commonName VAR_007426
VAR_007426 disease not phenotype-associated
VAR_007427 commonName VAR_007427
VAR_007427 disease not phenotype-associated
VAR_007428 commonName VAR_007428
VAR_007428 disease phenotype-associated
VAR_007428 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_007429 commonName VAR_007429
VAR_007429 disease phenotype-associated
VAR_007429 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_007430 commonName VAR_007430
VAR_007430 disease phenotype-associated
VAR_007430 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_007431 commonName VAR_007431
VAR_007431 disease not phenotype-associated
VAR_007434 commonName VAR_007434
VAR_007434 disease phenotype-associated
VAR_007434 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050]
VAR_007435 commonName VAR_007435
VAR_007435 disease phenotype-associated
VAR_007435 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050]
VAR_007435 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]
VAR_007437 commonName VAR_007437
VAR_007437 disease phenotype-associated
VAR_007437 phenoCommon Achondrogenesis type 1B (ACG1B) [MIM:600972]
VAR_007438 commonName VAR_007438
VAR_007438 disease phenotype-associated
VAR_007438 phenoCommon Achondrogenesis type 1B (ACG1B) [MIM:600972]
VAR_007439 commonName VAR_007439
VAR_007439 disease phenotype-associated
VAR_007439 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050]
VAR_007439 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]
VAR_007440 commonName VAR_007440
VAR_007440 disease phenotype-associated
VAR_007440 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007440 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007441 commonName VAR_007441
VAR_007441 disease phenotype-associated
VAR_007441 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007441 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007442 commonName VAR_007442
VAR_007442 disease phenotype-associated
VAR_007442 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007443 commonName VAR_007443
VAR_007443 disease phenotype-associated
VAR_007443 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007444 commonName VAR_007444
VAR_007444 disease phenotype-associated
VAR_007444 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007445 commonName VAR_007445
VAR_007445 disease phenotype-associated
VAR_007445 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007445 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007446 commonName VAR_007446
VAR_007446 disease phenotype-associated
VAR_007446 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007447 commonName VAR_007447
VAR_007447 disease phenotype-associated
VAR_007447 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007448 commonName VAR_007448
VAR_007448 disease phenotype-associated
VAR_007448 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007448 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007449 commonName VAR_007449
VAR_007449 disease phenotype-associated
VAR_007449 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_007449 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_007450 commonName VAR_007450
VAR_007450 disease phenotype-associated
VAR_007450 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_007451 commonName VAR_007451
VAR_007451 disease not phenotype-associated
VAR_007452 commonName VAR_007452
VAR_007452 disease phenotype-associated
VAR_007452 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_007454 commonName VAR_007454
VAR_007454 disease phenotype-associated
VAR_007454 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601]
VAR_007455 commonName VAR_007455
VAR_007455 disease not phenotype-associated
VAR_007456 commonName VAR_007456
VAR_007456 disease phenotype-associated
VAR_007456 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900]
VAR_007457 comment Glioma
VAR_007457 commonName VAR_007457
VAR_007458 comment Glioma
VAR_007458 commonName VAR_007458
VAR_007459 comment Glioma
VAR_007459 commonName VAR_007459
VAR_007460 comment Glioma
VAR_007460 commonName VAR_007460
VAR_007461 commonName VAR_007461
VAR_007461 disease phenotype-associated
VAR_007461 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007462 commonName VAR_007462
VAR_007462 disease phenotype-associated
VAR_007462 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_007462 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007463 commonName VAR_007463
VAR_007463 disease phenotype-associated
VAR_007463 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007464 commonName VAR_007464
VAR_007464 disease phenotype-associated
VAR_007464 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007465 commonName VAR_007465
VAR_007465 disease phenotype-associated
VAR_007465 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007466 comment Glioblastoma
VAR_007466 commonName VAR_007466
VAR_007467 commonName VAR_007467
VAR_007467 disease phenotype-associated
VAR_007467 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007468 commonName VAR_007468
VAR_007468 disease phenotype-associated
VAR_007468 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007469 commonName VAR_007469
VAR_007469 disease phenotype-associated
VAR_007469 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_007470 commonName VAR_007470
VAR_007470 disease phenotype-associated
VAR_007470 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_007471 commonName VAR_007471
VAR_007471 disease not phenotype-associated
VAR_007472 commonName VAR_007472
VAR_007472 disease not phenotype-associated
VAR_007473 commonName VAR_007473
VAR_007473 disease not phenotype-associated
VAR_007474 commonName VAR_007474
VAR_007474 disease phenotype-associated
VAR_007474 phenoCommon Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
VAR_007475 commonName VAR_007475
VAR_007475 disease phenotype-associated
VAR_007475 phenoCommon Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
VAR_007476 commonName VAR_007476
VAR_007476 disease phenotype-associated
VAR_007476 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_007477 commonName VAR_007477
VAR_007477 disease phenotype-associated
VAR_007477 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_007477 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_007478 commonName VAR_007478
VAR_007478 disease phenotype-associated
VAR_007478 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_007479 commonName VAR_007479
VAR_007479 disease phenotype-associated
VAR_007479 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_007480 commonName VAR_007480
VAR_007480 disease phenotype-associated
VAR_007480 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_007480 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_007481 commonName VAR_007481
VAR_007481 disease phenotype-associated
VAR_007481 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_007482 commonName VAR_007482
VAR_007482 disease phenotype-associated
VAR_007482 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690]
VAR_007483 commonName VAR_007483
VAR_007483 disease phenotype-associated
VAR_007483 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007484 commonName VAR_007484
VAR_007484 disease not phenotype-associated
VAR_007485 commonName VAR_007485
VAR_007485 disease phenotype-associated
VAR_007485 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007486 commonName VAR_007486
VAR_007486 disease phenotype-associated
VAR_007486 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007487 commonName VAR_007487
VAR_007487 disease phenotype-associated
VAR_007487 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007488 commonName VAR_007488
VAR_007488 disease phenotype-associated
VAR_007488 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007489 commonName VAR_007489
VAR_007489 disease not phenotype-associated
VAR_007490 commonName VAR_007490
VAR_007490 disease phenotype-associated
VAR_007490 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007491 commonName VAR_007491
VAR_007491 disease not phenotype-associated
VAR_007492 commonName VAR_007492
VAR_007492 disease phenotype-associated
VAR_007492 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_007493 commonName VAR_007493
VAR_007493 disease phenotype-associated
VAR_007493 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_007494 commonName VAR_007494
VAR_007494 disease phenotype-associated
VAR_007494 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_007495 commonName VAR_007495
VAR_007495 disease phenotype-associated
VAR_007495 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_007496 commonName VAR_007496
VAR_007496 disease not phenotype-associated
VAR_007498 commonName VAR_007498
VAR_007498 disease phenotype-associated
VAR_007498 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007499 commonName VAR_007499
VAR_007499 disease phenotype-associated
VAR_007499 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007500 commonName VAR_007500
VAR_007500 disease phenotype-associated
VAR_007500 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007501 commonName VAR_007501
VAR_007501 disease phenotype-associated
VAR_007501 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007502 commonName VAR_007502
VAR_007502 disease phenotype-associated
VAR_007502 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007503 commonName VAR_007503
VAR_007503 disease phenotype-associated
VAR_007503 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007504 commonName VAR_007504
VAR_007504 disease phenotype-associated
VAR_007504 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007505 commonName VAR_007505
VAR_007505 disease phenotype-associated
VAR_007505 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007506 commonName VAR_007506
VAR_007506 disease phenotype-associated
VAR_007506 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007507 commonName VAR_007507
VAR_007507 disease phenotype-associated
VAR_007507 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750]
VAR_007508 commonName VAR_007508
VAR_007508 disease phenotype-associated
VAR_007508 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900]
VAR_007509 commonName VAR_007509
VAR_007509 disease phenotype-associated
VAR_007509 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900]
VAR_007510 commonName VAR_007510
VAR_007510 disease phenotype-associated
VAR_007510 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900]
VAR_007513 commonName VAR_007513
VAR_007513 disease phenotype-associated
VAR_007513 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007514 commonName VAR_007514
VAR_007514 disease phenotype-associated
VAR_007514 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007515 commonName VAR_007515
VAR_007515 disease phenotype-associated
VAR_007515 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007517 commonName VAR_007517
VAR_007517 disease phenotype-associated
VAR_007517 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007518 commonName VAR_007518
VAR_007518 disease phenotype-associated
VAR_007518 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007519 commonName VAR_007519
VAR_007519 disease phenotype-associated
VAR_007519 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007520 commonName VAR_007520
VAR_007520 disease phenotype-associated
VAR_007520 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007521 commonName VAR_007521
VAR_007521 disease phenotype-associated
VAR_007521 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007522 commonName VAR_007522
VAR_007522 disease phenotype-associated
VAR_007522 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007523 commonName VAR_007523
VAR_007523 disease not phenotype-associated
VAR_007524 commonName VAR_007524
VAR_007524 disease phenotype-associated
VAR_007524 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007526 commonName VAR_007526
VAR_007526 disease phenotype-associated
VAR_007526 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007527 commonName VAR_007527
VAR_007527 disease phenotype-associated
VAR_007527 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007528 commonName VAR_007528
VAR_007528 disease phenotype-associated
VAR_007528 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_007530 comment CPT-resistant leukemia
VAR_007530 commonName VAR_007530
VAR_007531 comment CPT-resistant lung cancer
VAR_007531 commonName VAR_007531
VAR_007532 commonName VAR_007532
VAR_007533 commonName VAR_007533
VAR_007534 commonName VAR_007534
VAR_007534 disease phenotype-associated
VAR_007534 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]
VAR_007535 commonName VAR_007535
VAR_007535 disease phenotype-associated
VAR_007535 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]
VAR_007536 commonName VAR_007536
VAR_007536 disease phenotype-associated
VAR_007536 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]
VAR_007537 commonName VAR_007537
VAR_007542 commonName VAR_007542
VAR_007542 disease not phenotype-associated
VAR_007543 commonName VAR_007543
VAR_007543 disease phenotype-associated
VAR_007543 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_007544 commonName VAR_007544
VAR_007544 disease not phenotype-associated
VAR_007545 commonName VAR_007545
VAR_007545 disease not phenotype-associated
VAR_007546 commonName VAR_007546
VAR_007546 disease not phenotype-associated
VAR_007547 commonName VAR_007547
VAR_007547 disease phenotype-associated
VAR_007547 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007548 commonName VAR_007548
VAR_007548 disease phenotype-associated
VAR_007548 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007549 commonName VAR_007549
VAR_007549 disease phenotype-associated
VAR_007549 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007550 commonName VAR_007550
VAR_007550 disease phenotype-associated
VAR_007550 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007551 commonName VAR_007551
VAR_007551 disease phenotype-associated
VAR_007551 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007552 commonName VAR_007552
VAR_007552 disease phenotype-associated
VAR_007552 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007553 commonName VAR_007553
VAR_007553 disease phenotype-associated
VAR_007553 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007554 commonName VAR_007554
VAR_007554 disease phenotype-associated
VAR_007554 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007555 commonName VAR_007555
VAR_007555 disease phenotype-associated
VAR_007555 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007556 commonName VAR_007556
VAR_007556 disease phenotype-associated
VAR_007556 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007557 commonName VAR_007557
VAR_007557 disease phenotype-associated
VAR_007557 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007558 commonName VAR_007558
VAR_007558 disease phenotype-associated
VAR_007558 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007559 commonName VAR_007559
VAR_007559 disease phenotype-associated
VAR_007559 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007560 commonName VAR_007560
VAR_007560 disease phenotype-associated
VAR_007560 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007561 commonName VAR_007561
VAR_007561 disease phenotype-associated
VAR_007561 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007562 commonName VAR_007562
VAR_007562 disease phenotype-associated
VAR_007562 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007563 commonName VAR_007563
VAR_007563 disease phenotype-associated
VAR_007563 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007564 commonName VAR_007564
VAR_007564 disease phenotype-associated
VAR_007564 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007565 commonName VAR_007565
VAR_007565 disease phenotype-associated
VAR_007565 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007566 commonName VAR_007566
VAR_007566 disease phenotype-associated
VAR_007566 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007567 commonName VAR_007567
VAR_007567 disease phenotype-associated
VAR_007567 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007568 commonName VAR_007568
VAR_007568 disease phenotype-associated
VAR_007568 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007569 commonName VAR_007569
VAR_007569 disease phenotype-associated
VAR_007569 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007570 commonName VAR_007570
VAR_007570 disease phenotype-associated
VAR_007570 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007571 commonName VAR_007571
VAR_007571 disease phenotype-associated
VAR_007571 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007572 commonName VAR_007572
VAR_007572 disease phenotype-associated
VAR_007572 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007573 commonName VAR_007573
VAR_007573 disease phenotype-associated
VAR_007573 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007574 commonName VAR_007574
VAR_007574 disease phenotype-associated
VAR_007574 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007575 commonName VAR_007575
VAR_007575 disease phenotype-associated
VAR_007575 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007576 commonName VAR_007576
VAR_007576 disease phenotype-associated
VAR_007576 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007577 commonName VAR_007577
VAR_007577 disease phenotype-associated
VAR_007577 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007578 commonName VAR_007578
VAR_007578 disease phenotype-associated
VAR_007578 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007579 commonName VAR_007579
VAR_007579 disease phenotype-associated
VAR_007579 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007580 commonName VAR_007580
VAR_007580 disease phenotype-associated
VAR_007580 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007581 commonName VAR_007581
VAR_007581 disease not phenotype-associated
VAR_007582 commonName VAR_007582
VAR_007582 disease phenotype-associated
VAR_007582 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007583 commonName VAR_007583
VAR_007583 disease phenotype-associated
VAR_007583 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007584 commonName VAR_007584
VAR_007584 disease phenotype-associated
VAR_007584 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007585 commonName VAR_007585
VAR_007585 disease phenotype-associated
VAR_007585 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007586 commonName VAR_007586
VAR_007586 disease not phenotype-associated
VAR_007587 commonName VAR_007587
VAR_007587 disease phenotype-associated
VAR_007587 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007588 commonName VAR_007588
VAR_007588 disease phenotype-associated
VAR_007588 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007589 commonName VAR_007589
VAR_007589 disease not phenotype-associated
VAR_007590 commonName VAR_007590
VAR_007590 disease not phenotype-associated
VAR_007591 commonName VAR_007591
VAR_007591 disease not phenotype-associated
VAR_007592 commonName VAR_007592
VAR_007592 disease phenotype-associated
VAR_007592 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007593 commonName VAR_007593
VAR_007593 disease phenotype-associated
VAR_007593 phenoCommon Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]
VAR_007594 commonName VAR_007594
VAR_007594 disease phenotype-associated
VAR_007594 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007595 commonName VAR_007595
VAR_007595 disease phenotype-associated
VAR_007595 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007596 commonName VAR_007596
VAR_007596 disease phenotype-associated
VAR_007596 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007597 commonName VAR_007597
VAR_007598 commonName VAR_007598
VAR_007598 disease phenotype-associated
VAR_007598 phenoCommon Carpal tunnel syndrome type 1 (CTS1) [MIM:115430]
VAR_007599 commonName VAR_007599
VAR_007599 disease not phenotype-associated
VAR_007600 commonName VAR_007600
VAR_007600 disease phenotype-associated
VAR_007600 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_007601 commonName VAR_007601
VAR_007601 disease phenotype-associated
VAR_007601 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196]
VAR_007602 commonName VAR_007602
VAR_007602 disease phenotype-associated
VAR_007602 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196]
VAR_007603 commonName VAR_007603
VAR_007603 disease phenotype-associated
VAR_007603 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_007604 commonName VAR_007604
VAR_007604 disease phenotype-associated
VAR_007604 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_007614 commonName VAR_007614
VAR_007614 disease phenotype-associated
VAR_007614 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007615 commonName VAR_007615
VAR_007615 disease phenotype-associated
VAR_007615 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007616 commonName VAR_007616
VAR_007616 disease phenotype-associated
VAR_007616 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007617 commonName VAR_007617
VAR_007617 disease phenotype-associated
VAR_007617 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007618 commonName VAR_007618
VAR_007618 disease phenotype-associated
VAR_007618 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007619 commonName VAR_007619
VAR_007619 disease phenotype-associated
VAR_007619 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007620 commonName VAR_007620
VAR_007620 disease phenotype-associated
VAR_007620 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007622 commonName VAR_007622
VAR_007622 disease phenotype-associated
VAR_007622 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007625 commonName VAR_007625
VAR_007625 disease phenotype-associated
VAR_007625 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007627 commonName VAR_007627
VAR_007627 disease phenotype-associated
VAR_007627 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007628 commonName VAR_007628
VAR_007628 disease phenotype-associated
VAR_007628 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007629 commonName VAR_007629
VAR_007629 disease phenotype-associated
VAR_007629 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007630 commonName VAR_007630
VAR_007630 disease phenotype-associated
VAR_007630 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007632 commonName VAR_007632
VAR_007632 disease phenotype-associated
VAR_007632 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007634 commonName VAR_007634
VAR_007634 disease phenotype-associated
VAR_007634 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007635 commonName VAR_007635
VAR_007635 disease phenotype-associated
VAR_007635 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007637 commonName VAR_007637
VAR_007637 disease phenotype-associated
VAR_007637 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007639 commonName VAR_007639
VAR_007639 disease phenotype-associated
VAR_007639 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007640 commonName VAR_007640
VAR_007640 disease phenotype-associated
VAR_007640 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007641 commonName VAR_007641
VAR_007641 disease phenotype-associated
VAR_007641 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007642 commonName VAR_007642
VAR_007642 disease phenotype-associated
VAR_007642 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_007642 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_007643 commonName VAR_007643
VAR_007643 disease phenotype-associated
VAR_007643 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]
VAR_007644 commonName VAR_007644
VAR_007644 disease phenotype-associated
VAR_007644 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]
VAR_007645 commonName VAR_007645
VAR_007645 disease phenotype-associated
VAR_007645 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]
VAR_007646 commonName VAR_007646
VAR_007646 disease phenotype-associated
VAR_007646 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]
VAR_007648 commonName VAR_007648
VAR_007648 disease not phenotype-associated
VAR_007649 commonName VAR_007649
VAR_007649 disease phenotype-associated
VAR_007649 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007650 commonName VAR_007650
VAR_007650 disease phenotype-associated
VAR_007650 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007651 commonName VAR_007651
VAR_007651 disease phenotype-associated
VAR_007651 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007652 commonName VAR_007652
VAR_007652 disease phenotype-associated
VAR_007652 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007653 commonName VAR_007653
VAR_007654 commonName VAR_007654
VAR_007654 disease phenotype-associated
VAR_007654 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007655 commonName VAR_007655
VAR_007655 disease phenotype-associated
VAR_007655 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007656 commonName VAR_007656
VAR_007656 disease phenotype-associated
VAR_007656 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007657 commonName VAR_007657
VAR_007657 disease phenotype-associated
VAR_007657 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007658 commonName VAR_007658
VAR_007658 disease phenotype-associated
VAR_007658 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007659 commonName VAR_007659
VAR_007659 disease phenotype-associated
VAR_007659 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007660 commonName VAR_007660
VAR_007660 disease phenotype-associated
VAR_007660 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007661 commonName VAR_007661
VAR_007661 disease phenotype-associated
VAR_007661 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007662 commonName VAR_007662
VAR_007662 disease not phenotype-associated
VAR_007663 commonName VAR_007663
VAR_007663 disease phenotype-associated
VAR_007663 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007664 commonName VAR_007664
VAR_007664 disease phenotype-associated
VAR_007664 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007665 commonName VAR_007665
VAR_007665 disease phenotype-associated
VAR_007665 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007666 commonName VAR_007666
VAR_007666 disease phenotype-associated
VAR_007666 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007667 commonName VAR_007667
VAR_007667 disease phenotype-associated
VAR_007667 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007668 commonName VAR_007668
VAR_007668 disease phenotype-associated
VAR_007668 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007669 commonName VAR_007669
VAR_007669 disease phenotype-associated
VAR_007669 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007670 commonName VAR_007670
VAR_007670 disease phenotype-associated
VAR_007670 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007671 commonName VAR_007671
VAR_007671 disease phenotype-associated
VAR_007671 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007672 commonName VAR_007672
VAR_007672 disease phenotype-associated
VAR_007672 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007673 commonName VAR_007673
VAR_007674 commonName VAR_007674
VAR_007675 commonName VAR_007675
VAR_007675 disease phenotype-associated
VAR_007675 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007676 commonName VAR_007676
VAR_007676 disease phenotype-associated
VAR_007676 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007677 commonName VAR_007677
VAR_007678 commonName VAR_007678
VAR_007678 disease phenotype-associated
VAR_007678 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007679 commonName VAR_007679
VAR_007679 disease phenotype-associated
VAR_007679 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007680 commonName VAR_007680
VAR_007680 disease phenotype-associated
VAR_007680 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007681 commonName VAR_007681
VAR_007681 disease phenotype-associated
VAR_007681 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007682 commonName VAR_007682
VAR_007682 disease phenotype-associated
VAR_007682 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007683 commonName VAR_007683
VAR_007683 disease phenotype-associated
VAR_007683 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007684 commonName VAR_007684
VAR_007684 disease phenotype-associated
VAR_007684 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007685 commonName VAR_007685
VAR_007685 disease phenotype-associated
VAR_007685 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007686 commonName VAR_007686
VAR_007686 disease not phenotype-associated
VAR_007687 commonName VAR_007687
VAR_007687 disease phenotype-associated
VAR_007687 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007687 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007688 commonName VAR_007688
VAR_007689 commonName VAR_007689
VAR_007689 disease phenotype-associated
VAR_007689 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007689 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007690 commonName VAR_007690
VAR_007690 disease phenotype-associated
VAR_007690 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007691 commonName VAR_007691
VAR_007691 disease phenotype-associated
VAR_007691 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007691 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007692 commonName VAR_007692
VAR_007692 disease phenotype-associated
VAR_007692 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007693 commonName VAR_007693
VAR_007693 disease phenotype-associated
VAR_007693 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007694 commonName VAR_007694
VAR_007694 disease not phenotype-associated
VAR_007697 commonName VAR_007697
VAR_007697 disease phenotype-associated
VAR_007697 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007698 commonName VAR_007698
VAR_007698 disease phenotype-associated
VAR_007698 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_007699 commonName VAR_007699
VAR_007699 disease phenotype-associated
VAR_007699 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007700 commonName VAR_007700
VAR_007700 disease phenotype-associated
VAR_007700 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007701 commonName VAR_007701
VAR_007701 disease phenotype-associated
VAR_007701 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007702 commonName VAR_007702
VAR_007702 disease phenotype-associated
VAR_007702 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_007703 commonName VAR_007703
VAR_007703 disease phenotype-associated
VAR_007703 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007704 commonName VAR_007704
VAR_007704 disease phenotype-associated
VAR_007704 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007705 commonName VAR_007705
VAR_007705 disease phenotype-associated
VAR_007705 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007706 commonName VAR_007706
VAR_007706 disease phenotype-associated
VAR_007706 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007707 commonName VAR_007707
VAR_007707 disease phenotype-associated
VAR_007707 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007708 commonName VAR_007708
VAR_007708 disease phenotype-associated
VAR_007708 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007709 commonName VAR_007709
VAR_007709 disease phenotype-associated
VAR_007709 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_007709 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_007709 phenoCommon Transient familial neonatal hyperbilirubinemia (TNHBB) [MIM:237900]
VAR_007710 commonName VAR_007710
VAR_007710 disease phenotype-associated
VAR_007710 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_007711 commonName VAR_007711
VAR_007711 disease phenotype-associated
VAR_007711 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_007713 commonName VAR_007713
VAR_007713 disease not phenotype-associated
VAR_007714 commonName VAR_007714
VAR_007714 disease phenotype-associated
VAR_007714 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007714 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_007715 commonName VAR_007715
VAR_007715 disease phenotype-associated
VAR_007715 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_007716 commonName VAR_007716
VAR_007716 disease phenotype-associated
VAR_007716 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007717 commonName VAR_007717
VAR_007717 disease phenotype-associated
VAR_007717 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_007718 commonName VAR_007718
VAR_007718 disease phenotype-associated
VAR_007718 phenoCommon Amyloidosis type 5 (AMYL5) [MIM:105120]
VAR_007719 commonName VAR_007719
VAR_007719 disease phenotype-associated
VAR_007719 phenoCommon Amyloidosis type 5 (AMYL5) [MIM:105120]
VAR_007720 commonName VAR_007720
VAR_007720 disease phenotype-associated
VAR_007720 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_007721 commonName VAR_007721
VAR_007721 disease not phenotype-associated
VAR_007724 commonName VAR_007724
VAR_007724 disease phenotype-associated
VAR_007724 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432]
VAR_007725 commonName VAR_007725
VAR_007726 commonName VAR_007726
VAR_007726 disease phenotype-associated
VAR_007726 phenoCommon Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]
VAR_007727 commonName VAR_007727
VAR_007727 disease phenotype-associated
VAR_007727 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
VAR_007728 commonName VAR_007728
VAR_007728 disease phenotype-associated
VAR_007728 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
VAR_007729 commonName VAR_007729
VAR_007729 disease phenotype-associated
VAR_007729 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
VAR_007730 commonName VAR_007730
VAR_007730 disease phenotype-associated
VAR_007730 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
VAR_007731 commonName VAR_007731
VAR_007731 disease phenotype-associated
VAR_007731 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]
VAR_007732 commonName VAR_007732
VAR_007732 disease not phenotype-associated
VAR_007735 commonName VAR_007735
VAR_007735 disease phenotype-associated
VAR_007735 phenoCommon Congenital hypomyelination neuropathy (CHN) [MIM:605253]
VAR_007736 commonName VAR_007736
VAR_007736 disease phenotype-associated
VAR_007736 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_007738 commonName VAR_007738
VAR_007738 disease phenotype-associated
VAR_007738 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_007753 commonName VAR_007753
VAR_007753 disease phenotype-associated
VAR_007753 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]
VAR_007754 commonName VAR_007754
VAR_007755 commonName VAR_007755
VAR_007756 commonName VAR_007756
VAR_007756 disease phenotype-associated
VAR_007756 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007757 commonName VAR_007757
VAR_007757 disease phenotype-associated
VAR_007757 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007757 phenoCommon Ovarian cancer (OC) [MIM:167000]
VAR_007758 commonName VAR_007758
VAR_007758 disease phenotype-associated
VAR_007758 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007759 commonName VAR_007759
VAR_007759 disease not phenotype-associated
VAR_007760 commonName VAR_007760
VAR_007760 disease not phenotype-associated
VAR_007761 commonName VAR_007761
VAR_007761 disease phenotype-associated
VAR_007761 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007762 commonName VAR_007762
VAR_007762 disease not phenotype-associated
VAR_007764 commonName VAR_007764
VAR_007764 disease not phenotype-associated
VAR_007765 commonName VAR_007765
VAR_007765 disease phenotype-associated
VAR_007765 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007766 commonName VAR_007766
VAR_007766 disease phenotype-associated
VAR_007766 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007767 commonName VAR_007767
VAR_007768 commonName VAR_007768
VAR_007768 disease phenotype-associated
VAR_007768 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007769 commonName VAR_007769
VAR_007769 disease not phenotype-associated
VAR_007770 commonName VAR_007770
VAR_007770 disease not phenotype-associated
VAR_007771 commonName VAR_007771
VAR_007771 disease not phenotype-associated
VAR_007772 commonName VAR_007772
VAR_007772 disease phenotype-associated
VAR_007772 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007773 commonName VAR_007773
VAR_007774 commonName VAR_007774
VAR_007774 disease not phenotype-associated
VAR_007775 commonName VAR_007775
VAR_007775 disease phenotype-associated
VAR_007775 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007776 commonName VAR_007776
VAR_007776 disease phenotype-associated
VAR_007776 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007777 commonName VAR_007777
VAR_007777 disease not phenotype-associated
VAR_007778 commonName VAR_007778
VAR_007778 disease phenotype-associated
VAR_007778 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007779 commonName VAR_007779
VAR_007779 disease not phenotype-associated
VAR_007780 commonName VAR_007780
VAR_007780 disease not phenotype-associated
VAR_007781 commonName VAR_007781
VAR_007781 disease phenotype-associated
VAR_007781 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_007800 commonName VAR_007800
VAR_007800 disease not phenotype-associated
VAR_007801 commonName VAR_007801
VAR_007801 disease not phenotype-associated
VAR_007802 commonName VAR_007802
VAR_007802 disease not phenotype-associated
VAR_007803 commonName VAR_007803
VAR_007803 disease phenotype-associated
VAR_007803 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_007804 commonName VAR_007804
VAR_007804 disease phenotype-associated
VAR_007804 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_007805 commonName VAR_007805
VAR_007805 disease phenotype-associated
VAR_007805 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_007806 commonName VAR_007806
VAR_007806 disease not phenotype-associated
VAR_007807 commonName VAR_007807
VAR_007807 disease phenotype-associated
VAR_007807 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007807 phenoCommon Lhermitte-Duclos disease (LDD) [MIM:158350]
VAR_007808 commonName VAR_007808
VAR_007808 disease phenotype-associated
VAR_007808 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_007809 comment A T-cell acute lymphoblastic leukemia cell line
VAR_007809 commonName VAR_007809
VAR_007810 commonName VAR_007810
VAR_007810 disease not phenotype-associated
VAR_007811 commonName VAR_007811
VAR_007811 disease not phenotype-associated
VAR_007812 commonName VAR_007812
VAR_007812 disease not phenotype-associated
VAR_007813 commonName VAR_007813
VAR_007813 disease not phenotype-associated
VAR_007814 commonName VAR_007814
VAR_007814 disease not phenotype-associated
VAR_007815 commonName VAR_007815
VAR_007815 disease phenotype-associated
VAR_007815 phenoCommon Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]
VAR_007815 phenoCommon Peters anomaly (PAN) [MIM:604229]
VAR_007816 commonName VAR_007816
VAR_007817 commonName VAR_007817
VAR_007818 commonName VAR_007818
VAR_007818 disease not phenotype-associated
VAR_007819 commonName VAR_007819
VAR_007819 disease phenotype-associated
VAR_007819 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007820 commonName VAR_007820
VAR_007820 disease phenotype-associated
VAR_007820 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007820 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007821 commonName VAR_007821
VAR_007821 disease phenotype-associated
VAR_007821 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007821 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007822 commonName VAR_007822
VAR_007822 disease phenotype-associated
VAR_007822 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007823 commonName VAR_007823
VAR_007823 disease phenotype-associated
VAR_007823 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007823 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007824 commonName VAR_007824
VAR_007824 disease phenotype-associated
VAR_007824 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007825 commonName VAR_007825
VAR_007825 disease phenotype-associated
VAR_007825 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007826 commonName VAR_007826
VAR_007826 disease phenotype-associated
VAR_007826 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007826 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007827 commonName VAR_007827
VAR_007827 disease phenotype-associated
VAR_007827 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007828 commonName VAR_007828
VAR_007828 disease phenotype-associated
VAR_007828 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007828 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007829 commonName VAR_007829
VAR_007829 disease phenotype-associated
VAR_007829 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007830 commonName VAR_007830
VAR_007830 disease phenotype-associated
VAR_007830 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007831 commonName VAR_007831
VAR_007831 disease phenotype-associated
VAR_007831 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007832 commonName VAR_007832
VAR_007832 disease phenotype-associated
VAR_007832 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007833 commonName VAR_007833
VAR_007833 disease phenotype-associated
VAR_007833 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007833 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007834 commonName VAR_007834
VAR_007834 disease phenotype-associated
VAR_007834 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007835 commonName VAR_007835
VAR_007835 disease phenotype-associated
VAR_007835 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_007835 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007836 commonName VAR_007836
VAR_007836 disease phenotype-associated
VAR_007836 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007837 commonName VAR_007837
VAR_007837 disease phenotype-associated
VAR_007837 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007838 commonName VAR_007838
VAR_007838 disease phenotype-associated
VAR_007838 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007839 commonName VAR_007839
VAR_007839 disease phenotype-associated
VAR_007839 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007840 commonName VAR_007840
VAR_007840 disease phenotype-associated
VAR_007840 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007841 commonName VAR_007841
VAR_007841 disease phenotype-associated
VAR_007841 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007842 commonName VAR_007842
VAR_007842 disease phenotype-associated
VAR_007842 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_007843 commonName VAR_007843
VAR_007843 disease phenotype-associated
VAR_007843 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_007844 commonName VAR_007844
VAR_007844 disease phenotype-associated
VAR_007844 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_007847 commonName VAR_007847
VAR_007847 disease phenotype-associated
VAR_007847 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_007847 phenoCommon Sporadic basal cell carcinoma (BCC) [MIM:605462]
VAR_007848 comment Basal cell carcinoma samples
VAR_007848 commonName VAR_007848
VAR_007849 comment Basal cell carcinoma samples
VAR_007849 commonName VAR_007849
VAR_007850 commonName VAR_007850
VAR_007850 disease phenotype-associated
VAR_007850 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_007851 commonName VAR_007851
VAR_007851 disease not phenotype-associated
VAR_007852 commonName VAR_007852
VAR_007852 disease not phenotype-associated
VAR_007853 commonName VAR_007853
VAR_007853 disease not phenotype-associated
VAR_007854 commonName VAR_007854
VAR_007854 disease phenotype-associated
VAR_007854 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_007855 commonName VAR_007855
VAR_007855 disease not phenotype-associated
VAR_007856 commonName VAR_007856
VAR_007856 disease not phenotype-associated
VAR_007858 commonName VAR_007858
VAR_007858 disease phenotype-associated
VAR_007858 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_007859 commonName VAR_007859
VAR_007860 commonName VAR_007860
VAR_007860 disease phenotype-associated
VAR_007860 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007861 commonName VAR_007861
VAR_007861 disease phenotype-associated
VAR_007861 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007862 commonName VAR_007862
VAR_007862 disease phenotype-associated
VAR_007862 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007863 commonName VAR_007863
VAR_007863 disease phenotype-associated
VAR_007863 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007864 commonName VAR_007864
VAR_007864 disease phenotype-associated
VAR_007864 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007865 commonName VAR_007865
VAR_007865 disease phenotype-associated
VAR_007865 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600]
VAR_007866 commonName VAR_007866
VAR_007866 disease phenotype-associated
VAR_007866 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
VAR_007867 commonName VAR_007867
VAR_007867 disease phenotype-associated
VAR_007867 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
VAR_007868 commonName VAR_007868
VAR_007868 disease phenotype-associated
VAR_007868 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
VAR_007873 commonName VAR_007873
VAR_007873 disease phenotype-associated
VAR_007873 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007874 commonName VAR_007874
VAR_007874 disease phenotype-associated
VAR_007874 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007875 commonName VAR_007875
VAR_007875 disease phenotype-associated
VAR_007875 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007876 commonName VAR_007876
VAR_007876 disease phenotype-associated
VAR_007876 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007877 commonName VAR_007877
VAR_007877 disease phenotype-associated
VAR_007877 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007878 commonName VAR_007878
VAR_007878 disease phenotype-associated
VAR_007878 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007880 commonName VAR_007880
VAR_007880 disease phenotype-associated
VAR_007880 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007881 commonName VAR_007881
VAR_007881 disease phenotype-associated
VAR_007881 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007882 commonName VAR_007882
VAR_007882 disease phenotype-associated
VAR_007882 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007883 commonName VAR_007883
VAR_007883 disease phenotype-associated
VAR_007883 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007884 commonName VAR_007884
VAR_007884 disease phenotype-associated
VAR_007884 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_007899 commonName VAR_007899
VAR_007899 disease phenotype-associated
VAR_007899 phenoCommon Myopathy myofibrillar type 2 (MFM2) [MIM:608810]
VAR_007900 commonName VAR_007900
VAR_007900 disease phenotype-associated
VAR_007900 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_007901 commonName VAR_007901
VAR_007901 disease phenotype-associated
VAR_007901 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_007902 commonName VAR_007902
VAR_007902 disease phenotype-associated
VAR_007902 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_007904 commonName VAR_007904
VAR_007904 disease not phenotype-associated
VAR_007905 commonName VAR_007905
VAR_007905 disease not phenotype-associated
VAR_007906 commonName VAR_007906
VAR_007906 disease not phenotype-associated
VAR_007907 commonName VAR_007907
VAR_007907 disease not phenotype-associated
VAR_007908 commonName VAR_007908
VAR_007908 disease phenotype-associated
VAR_007908 phenoCommon Glycogen storage disease type 6 (GSD6) [MIM:232700]
VAR_007909 commonName VAR_007909
VAR_007909 disease phenotype-associated
VAR_007909 phenoCommon Glycogen storage disease type 6 (GSD6) [MIM:232700]
VAR_007910 commonName VAR_007910
VAR_007910 disease phenotype-associated
VAR_007910 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_007911 commonName VAR_007911
VAR_007911 disease phenotype-associated
VAR_007911 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007912 commonName VAR_007912
VAR_007912 disease phenotype-associated
VAR_007912 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007913 commonName VAR_007913
VAR_007913 disease phenotype-associated
VAR_007913 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007914 commonName VAR_007914
VAR_007914 disease phenotype-associated
VAR_007914 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007915 commonName VAR_007915
VAR_007915 disease phenotype-associated
VAR_007915 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007916 commonName VAR_007916
VAR_007916 disease phenotype-associated
VAR_007916 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007917 commonName VAR_007917
VAR_007917 disease phenotype-associated
VAR_007917 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_007918 commonName VAR_007918
VAR_007918 disease phenotype-associated
VAR_007918 phenoCommon Zellweger syndrome (ZWS) [MIM:214100]
VAR_007919 commonName VAR_007919
VAR_007919 disease phenotype-associated
VAR_007919 phenoCommon Zellweger syndrome (ZWS) [MIM:214100]
VAR_007921 commonName VAR_007921
VAR_007921 disease phenotype-associated
VAR_007921 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_007922 commonName VAR_007922
VAR_007922 disease phenotype-associated
VAR_007922 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_007925 commonName VAR_007925
VAR_007925 disease phenotype-associated
VAR_007925 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007927 commonName VAR_007927
VAR_007927 disease phenotype-associated
VAR_007927 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007928 commonName VAR_007928
VAR_007928 disease phenotype-associated
VAR_007928 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007928 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007929 commonName VAR_007929
VAR_007929 disease phenotype-associated
VAR_007929 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007930 commonName VAR_007930
VAR_007930 disease phenotype-associated
VAR_007930 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007931 commonName VAR_007931
VAR_007931 disease phenotype-associated
VAR_007931 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007932 commonName VAR_007932
VAR_007932 disease phenotype-associated
VAR_007932 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007933 commonName VAR_007933
VAR_007933 disease phenotype-associated
VAR_007933 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007934 commonName VAR_007934
VAR_007934 disease phenotype-associated
VAR_007934 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007935 commonName VAR_007935
VAR_007935 disease phenotype-associated
VAR_007935 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007936 commonName VAR_007936
VAR_007936 disease phenotype-associated
VAR_007936 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007937 commonName VAR_007937
VAR_007937 disease phenotype-associated
VAR_007937 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]
VAR_007938 commonName VAR_007938
VAR_007938 disease phenotype-associated
VAR_007938 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_007939 commonName VAR_007939
VAR_007939 disease not phenotype-associated
VAR_007940 commonName VAR_007940
VAR_007940 disease phenotype-associated
VAR_007940 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_007941 commonName VAR_007941
VAR_007941 disease phenotype-associated
VAR_007941 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_007942 commonName VAR_007942
VAR_007942 disease phenotype-associated
VAR_007942 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_007944 commonName VAR_007944
VAR_007945 commonName VAR_007945
VAR_007946 commonName VAR_007946
VAR_007946 disease phenotype-associated
VAR_007946 phenoCommon Retinitis pigmentosa (RP) [MIM:268000]
VAR_007948 commonName VAR_007948
VAR_007948 disease not phenotype-associated
VAR_007949 commonName VAR_007949
VAR_007949 disease phenotype-associated
VAR_007949 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
VAR_007951 commonName VAR_007951
VAR_007951 disease phenotype-associated
VAR_007951 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_007952 commonName VAR_007952
VAR_007952 disease phenotype-associated
VAR_007952 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_007953 commonName VAR_007953
VAR_007953 disease phenotype-associated
VAR_007953 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_007954 commonName VAR_007954
VAR_007954 disease phenotype-associated
VAR_007954 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_007957 commonName VAR_007957
VAR_007957 disease phenotype-associated
VAR_007957 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601]
VAR_007958 commonName VAR_007958
VAR_007958 disease phenotype-associated
VAR_007958 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_007959 commonName VAR_007959
VAR_007959 disease not phenotype-associated
VAR_007960 commonName VAR_007960
VAR_007960 disease not phenotype-associated
VAR_007961 commonName VAR_007961
VAR_007962 commonName VAR_007962
VAR_007962 disease not phenotype-associated
VAR_007963 commonName VAR_007963
VAR_007963 disease not phenotype-associated
VAR_007964 commonName VAR_007964
VAR_007964 disease not phenotype-associated
VAR_007966 commonName VAR_007966
VAR_007966 disease phenotype-associated
VAR_007966 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007967 commonName VAR_007967
VAR_007967 disease phenotype-associated
VAR_007967 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007968 commonName VAR_007968
VAR_007968 disease phenotype-associated
VAR_007968 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007969 commonName VAR_007969
VAR_007969 disease phenotype-associated
VAR_007969 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007970 commonName VAR_007970
VAR_007970 disease phenotype-associated
VAR_007970 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007971 commonName VAR_007971
VAR_007971 disease phenotype-associated
VAR_007971 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_007972 commonName VAR_007972
VAR_007972 disease phenotype-associated
VAR_007972 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007973 commonName VAR_007973
VAR_007973 disease phenotype-associated
VAR_007973 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007974 commonName VAR_007974
VAR_007974 disease phenotype-associated
VAR_007974 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007975 commonName VAR_007975
VAR_007975 disease phenotype-associated
VAR_007975 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007976 commonName VAR_007976
VAR_007976 disease phenotype-associated
VAR_007976 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007977 commonName VAR_007977
VAR_007977 disease phenotype-associated
VAR_007977 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007978 commonName VAR_007978
VAR_007978 disease phenotype-associated
VAR_007978 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_007979 commonName VAR_007979
VAR_007979 disease phenotype-associated
VAR_007979 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007980 commonName VAR_007980
VAR_007980 disease phenotype-associated
VAR_007980 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007981 commonName VAR_007981
VAR_007981 disease phenotype-associated
VAR_007981 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007982 commonName VAR_007982
VAR_007982 disease phenotype-associated
VAR_007982 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007983 commonName VAR_007983
VAR_007983 disease phenotype-associated
VAR_007983 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007984 commonName VAR_007984
VAR_007984 disease phenotype-associated
VAR_007984 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007985 commonName VAR_007985
VAR_007985 disease phenotype-associated
VAR_007985 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007986 commonName VAR_007986
VAR_007986 disease phenotype-associated
VAR_007986 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007987 commonName VAR_007987
VAR_007987 disease phenotype-associated
VAR_007987 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007988 commonName VAR_007988
VAR_007988 disease phenotype-associated
VAR_007988 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_007990 commonName VAR_007990
VAR_007990 disease phenotype-associated
VAR_007990 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]
VAR_007990 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_008017 commonName VAR_008017
VAR_008017 disease phenotype-associated
VAR_008017 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_008018 commonName VAR_008018
VAR_008018 disease phenotype-associated
VAR_008018 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_008019 commonName VAR_008019
VAR_008019 disease not phenotype-associated
VAR_008020 commonName VAR_008020
VAR_008020 disease phenotype-associated
VAR_008020 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008021 commonName VAR_008021
VAR_008021 disease phenotype-associated
VAR_008021 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008022 commonName VAR_008022
VAR_008022 disease phenotype-associated
VAR_008022 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008023 commonName VAR_008023
VAR_008023 disease not phenotype-associated
VAR_008024 commonName VAR_008024
VAR_008024 disease not phenotype-associated
VAR_008025 commonName VAR_008025
VAR_008025 disease not phenotype-associated
VAR_008026 commonName VAR_008026
VAR_008026 disease phenotype-associated
VAR_008026 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008027 commonName VAR_008027
VAR_008027 disease phenotype-associated
VAR_008027 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008028 commonName VAR_008028
VAR_008028 disease phenotype-associated
VAR_008028 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008029 commonName VAR_008029
VAR_008029 disease phenotype-associated
VAR_008029 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008030 commonName VAR_008030
VAR_008030 disease phenotype-associated
VAR_008030 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008031 commonName VAR_008031
VAR_008031 disease phenotype-associated
VAR_008031 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008032 commonName VAR_008032
VAR_008032 disease phenotype-associated
VAR_008032 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008033 commonName VAR_008033
VAR_008033 disease phenotype-associated
VAR_008033 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_008034 commonName VAR_008034
VAR_008034 disease not phenotype-associated
VAR_008035 commonName VAR_008035
VAR_008035 disease not phenotype-associated
VAR_008036 commonName VAR_008036
VAR_008036 disease phenotype-associated
VAR_008036 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008037 commonName VAR_008037
VAR_008037 disease not phenotype-associated
VAR_008039 commonName VAR_008039
VAR_008039 disease phenotype-associated
VAR_008039 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_008040 commonName VAR_008040
VAR_008040 disease phenotype-associated
VAR_008040 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_008041 commonName VAR_008041
VAR_008041 disease phenotype-associated
VAR_008041 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_008042 commonName VAR_008042
VAR_008042 disease phenotype-associated
VAR_008042 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008043 commonName VAR_008043
VAR_008043 disease phenotype-associated
VAR_008043 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008044 commonName VAR_008044
VAR_008044 disease phenotype-associated
VAR_008044 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008045 commonName VAR_008045
VAR_008045 disease phenotype-associated
VAR_008045 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008047 commonName VAR_008047
VAR_008047 disease phenotype-associated
VAR_008047 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008048 commonName VAR_008048
VAR_008048 disease phenotype-associated
VAR_008048 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_008049 commonName VAR_008049
VAR_008049 disease phenotype-associated
VAR_008049 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008050 commonName VAR_008050
VAR_008050 disease phenotype-associated
VAR_008050 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008051 commonName VAR_008051
VAR_008051 disease phenotype-associated
VAR_008051 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008052 commonName VAR_008052
VAR_008052 disease phenotype-associated
VAR_008052 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008053 commonName VAR_008053
VAR_008053 disease phenotype-associated
VAR_008053 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008054 commonName VAR_008054
VAR_008054 disease phenotype-associated
VAR_008054 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008055 commonName VAR_008055
VAR_008055 disease phenotype-associated
VAR_008055 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008056 commonName VAR_008056
VAR_008056 disease phenotype-associated
VAR_008056 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008057 commonName VAR_008057
VAR_008057 disease phenotype-associated
VAR_008057 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008058 commonName VAR_008058
VAR_008058 disease phenotype-associated
VAR_008058 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008059 commonName VAR_008059
VAR_008059 disease phenotype-associated
VAR_008059 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008060 commonName VAR_008060
VAR_008060 disease phenotype-associated
VAR_008060 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008061 commonName VAR_008061
VAR_008061 disease phenotype-associated
VAR_008061 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008062 commonName VAR_008062
VAR_008062 disease phenotype-associated
VAR_008062 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008064 commonName VAR_008064
VAR_008064 disease phenotype-associated
VAR_008064 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008065 commonName VAR_008065
VAR_008065 disease phenotype-associated
VAR_008065 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008066 commonName VAR_008066
VAR_008066 disease phenotype-associated
VAR_008066 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008067 commonName VAR_008067
VAR_008067 disease phenotype-associated
VAR_008067 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008068 commonName VAR_008068
VAR_008068 disease phenotype-associated
VAR_008068 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008069 commonName VAR_008069
VAR_008069 disease phenotype-associated
VAR_008069 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008070 commonName VAR_008070
VAR_008070 disease phenotype-associated
VAR_008070 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008071 commonName VAR_008071
VAR_008071 disease phenotype-associated
VAR_008071 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008072 commonName VAR_008072
VAR_008072 disease phenotype-associated
VAR_008072 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008073 commonName VAR_008073
VAR_008073 disease phenotype-associated
VAR_008073 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008074 commonName VAR_008074
VAR_008074 disease phenotype-associated
VAR_008074 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008076 commonName VAR_008076
VAR_008076 disease phenotype-associated
VAR_008076 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008077 commonName VAR_008077
VAR_008077 disease phenotype-associated
VAR_008077 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008078 commonName VAR_008078
VAR_008078 disease phenotype-associated
VAR_008078 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008079 commonName VAR_008079
VAR_008079 disease phenotype-associated
VAR_008079 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008080 commonName VAR_008080
VAR_008080 disease phenotype-associated
VAR_008080 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008081 commonName VAR_008081
VAR_008081 disease phenotype-associated
VAR_008081 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008082 commonName VAR_008082
VAR_008082 disease phenotype-associated
VAR_008082 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008083 commonName VAR_008083
VAR_008083 disease phenotype-associated
VAR_008083 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008084 commonName VAR_008084
VAR_008084 disease phenotype-associated
VAR_008084 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008085 commonName VAR_008085
VAR_008085 disease phenotype-associated
VAR_008085 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008086 commonName VAR_008086
VAR_008086 disease phenotype-associated
VAR_008086 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008087 commonName VAR_008087
VAR_008087 disease phenotype-associated
VAR_008087 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008088 commonName VAR_008088
VAR_008088 disease phenotype-associated
VAR_008088 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008089 commonName VAR_008089
VAR_008089 disease phenotype-associated
VAR_008089 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008090 commonName VAR_008090
VAR_008090 disease phenotype-associated
VAR_008090 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_008094 commonName VAR_008094
VAR_008095 commonName VAR_008095
VAR_008095 disease phenotype-associated
VAR_008095 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_008096 commonName VAR_008096
VAR_008096 disease phenotype-associated
VAR_008096 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_008097 commonName VAR_008097
VAR_008097 disease phenotype-associated
VAR_008097 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008098 commonName VAR_008098
VAR_008098 disease phenotype-associated
VAR_008098 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008099 commonName VAR_008099
VAR_008099 disease phenotype-associated
VAR_008099 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008100 commonName VAR_008100
VAR_008100 disease phenotype-associated
VAR_008100 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008101 commonName VAR_008101
VAR_008101 disease phenotype-associated
VAR_008101 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008102 commonName VAR_008102
VAR_008102 disease phenotype-associated
VAR_008102 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008103 commonName VAR_008103
VAR_008103 disease phenotype-associated
VAR_008103 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008104 commonName VAR_008104
VAR_008104 disease phenotype-associated
VAR_008104 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_008105 commonName VAR_008105
VAR_008105 disease phenotype-associated
VAR_008105 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_008106 commonName VAR_008106
VAR_008106 disease phenotype-associated
VAR_008106 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_008106 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_008107 commonName VAR_008107
VAR_008107 disease phenotype-associated
VAR_008107 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_008108 commonName VAR_008108
VAR_008108 disease phenotype-associated
VAR_008108 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_008109 commonName VAR_008109
VAR_008109 disease phenotype-associated
VAR_008109 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_008110 commonName VAR_008110
VAR_008110 disease phenotype-associated
VAR_008110 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_008111 commonName VAR_008111
VAR_008111 disease not phenotype-associated
VAR_008112 commonName VAR_008112
VAR_008112 disease not phenotype-associated
VAR_008113 commonName VAR_008113
VAR_008113 disease phenotype-associated
VAR_008113 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_008114 commonName VAR_008114
VAR_008114 disease phenotype-associated
VAR_008114 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_008118 commonName VAR_008118
VAR_008118 disease phenotype-associated
VAR_008118 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_008118 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_008119 commonName VAR_008119
VAR_008119 disease phenotype-associated
VAR_008119 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_008120 commonName VAR_008120
VAR_008120 disease phenotype-associated
VAR_008120 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_008121 commonName VAR_008121
VAR_008121 disease phenotype-associated
VAR_008121 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_008122 commonName VAR_008122
VAR_008122 disease phenotype-associated
VAR_008122 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_008123 commonName VAR_008123
VAR_008123 disease phenotype-associated
VAR_008123 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_008124 commonName VAR_008124
VAR_008124 disease phenotype-associated
VAR_008124 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008125 commonName VAR_008125
VAR_008125 disease phenotype-associated
VAR_008125 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008126 commonName VAR_008126
VAR_008126 disease phenotype-associated
VAR_008126 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008127 commonName VAR_008127
VAR_008127 disease phenotype-associated
VAR_008127 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008129 commonName VAR_008129
VAR_008129 disease phenotype-associated
VAR_008129 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_008130 commonName VAR_008130
VAR_008130 disease phenotype-associated
VAR_008130 phenoCommon Mental retardation X-linked type 41 (MRX41) [MIM:300849]
VAR_008131 commonName VAR_008131
VAR_008131 disease phenotype-associated
VAR_008131 phenoCommon Mental retardation X-linked type 41 (MRX41) [MIM:300849]
VAR_008132 commonName VAR_008132
VAR_008132 disease phenotype-associated
VAR_008132 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_008137 commonName VAR_008137
VAR_008137 disease phenotype-associated
VAR_008137 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_008138 commonName VAR_008138
VAR_008138 disease phenotype-associated
VAR_008138 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_008139 commonName VAR_008139
VAR_008139 disease phenotype-associated
VAR_008139 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_008140 commonName VAR_008140
VAR_008140 disease phenotype-associated
VAR_008140 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_008141 commonName VAR_008141
VAR_008141 disease phenotype-associated
VAR_008141 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_008142 commonName VAR_008142
VAR_008142 disease not phenotype-associated
VAR_008143 commonName VAR_008143
VAR_008143 disease not phenotype-associated
VAR_008145 commonName VAR_008145
VAR_008145 disease phenotype-associated
VAR_008145 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_008146 commonName VAR_008146
VAR_008146 disease phenotype-associated
VAR_008146 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_008147 commonName VAR_008147
VAR_008147 disease phenotype-associated
VAR_008147 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_008149 commonName VAR_008149
VAR_008149 disease not phenotype-associated
VAR_008150 commonName VAR_008150
VAR_008150 disease not phenotype-associated
VAR_008151 commonName VAR_008151
VAR_008151 disease not phenotype-associated
VAR_008152 commonName VAR_008152
VAR_008152 disease not phenotype-associated
VAR_008153 commonName VAR_008153
VAR_008153 disease phenotype-associated
VAR_008153 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_008154 commonName VAR_008154
VAR_008154 disease not phenotype-associated
VAR_008155 commonName VAR_008155
VAR_008155 disease phenotype-associated
VAR_008155 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_008169 commonName VAR_008169
VAR_008169 disease not phenotype-associated
VAR_008170 commonName VAR_008170
VAR_008170 disease not phenotype-associated
VAR_008171 commonName VAR_008171
VAR_008171 disease not phenotype-associated
VAR_008172 commonName VAR_008172
VAR_008172 disease phenotype-associated
VAR_008172 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008173 commonName VAR_008173
VAR_008173 disease phenotype-associated
VAR_008173 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008174 commonName VAR_008174
VAR_008174 disease phenotype-associated
VAR_008174 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008175 commonName VAR_008175
VAR_008175 disease phenotype-associated
VAR_008175 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008176 commonName VAR_008176
VAR_008176 disease phenotype-associated
VAR_008176 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008177 commonName VAR_008177
VAR_008177 disease phenotype-associated
VAR_008177 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008178 commonName VAR_008178
VAR_008178 disease phenotype-associated
VAR_008178 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008179 commonName VAR_008179
VAR_008179 disease phenotype-associated
VAR_008179 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_008180 commonName VAR_008180
VAR_008180 disease phenotype-associated
VAR_008180 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008181 commonName VAR_008181
VAR_008181 disease phenotype-associated
VAR_008181 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008182 commonName VAR_008182
VAR_008182 disease phenotype-associated
VAR_008182 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008183 commonName VAR_008183
VAR_008183 disease phenotype-associated
VAR_008183 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008184 commonName VAR_008184
VAR_008184 disease phenotype-associated
VAR_008184 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008185 commonName VAR_008185
VAR_008185 disease phenotype-associated
VAR_008185 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008186 commonName VAR_008186
VAR_008186 disease phenotype-associated
VAR_008186 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_008187 commonName VAR_008187
VAR_008187 disease phenotype-associated
VAR_008187 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008188 commonName VAR_008188
VAR_008188 disease phenotype-associated
VAR_008188 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008189 commonName VAR_008189
VAR_008189 disease phenotype-associated
VAR_008189 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_008191 commonName VAR_008191
VAR_008191 disease phenotype-associated
VAR_008191 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008192 commonName VAR_008192
VAR_008192 disease phenotype-associated
VAR_008192 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008193 commonName VAR_008193
VAR_008193 disease phenotype-associated
VAR_008193 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]
VAR_008193 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008194 commonName VAR_008194
VAR_008194 disease phenotype-associated
VAR_008194 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_008195 commonName VAR_008195
VAR_008195 disease phenotype-associated
VAR_008195 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_008196 commonName VAR_008196
VAR_008196 disease phenotype-associated
VAR_008196 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_008197 commonName VAR_008197
VAR_008197 disease phenotype-associated
VAR_008197 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008198 commonName VAR_008198
VAR_008198 disease phenotype-associated
VAR_008198 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_008200 commonName VAR_008200
VAR_008200 disease phenotype-associated
VAR_008200 phenoCommon Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
VAR_008201 commonName VAR_008201
VAR_008201 disease phenotype-associated
VAR_008201 phenoCommon Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
VAR_008209 commonName VAR_008209
VAR_008209 disease phenotype-associated
VAR_008209 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008210 commonName VAR_008210
VAR_008210 disease phenotype-associated
VAR_008210 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008211 commonName VAR_008211
VAR_008211 disease phenotype-associated
VAR_008211 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008212 commonName VAR_008212
VAR_008212 disease phenotype-associated
VAR_008212 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008213 commonName VAR_008213
VAR_008213 disease phenotype-associated
VAR_008213 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008214 commonName VAR_008214
VAR_008214 disease phenotype-associated
VAR_008214 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008215 commonName VAR_008215
VAR_008215 disease phenotype-associated
VAR_008215 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008216 commonName VAR_008216
VAR_008216 disease phenotype-associated
VAR_008216 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008217 commonName VAR_008217
VAR_008217 disease phenotype-associated
VAR_008217 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008218 commonName VAR_008218
VAR_008218 disease phenotype-associated
VAR_008218 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008219 commonName VAR_008219
VAR_008219 disease phenotype-associated
VAR_008219 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008220 commonName VAR_008220
VAR_008220 disease phenotype-associated
VAR_008220 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008221 commonName VAR_008221
VAR_008221 disease phenotype-associated
VAR_008221 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008222 commonName VAR_008222
VAR_008222 disease phenotype-associated
VAR_008222 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008223 commonName VAR_008223
VAR_008223 disease phenotype-associated
VAR_008223 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008224 commonName VAR_008224
VAR_008224 disease phenotype-associated
VAR_008224 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008225 commonName VAR_008225
VAR_008225 disease phenotype-associated
VAR_008225 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008226 commonName VAR_008226
VAR_008226 disease phenotype-associated
VAR_008226 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008227 commonName VAR_008227
VAR_008227 disease phenotype-associated
VAR_008227 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008228 commonName VAR_008228
VAR_008228 disease phenotype-associated
VAR_008228 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008229 commonName VAR_008229
VAR_008229 disease phenotype-associated
VAR_008229 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008230 commonName VAR_008230
VAR_008230 disease phenotype-associated
VAR_008230 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008231 commonName VAR_008231
VAR_008231 disease phenotype-associated
VAR_008231 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008232 commonName VAR_008232
VAR_008232 disease phenotype-associated
VAR_008232 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008233 commonName VAR_008233
VAR_008233 disease phenotype-associated
VAR_008233 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008234 commonName VAR_008234
VAR_008234 disease phenotype-associated
VAR_008234 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008235 commonName VAR_008235
VAR_008235 disease phenotype-associated
VAR_008235 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008236 commonName VAR_008236
VAR_008236 disease phenotype-associated
VAR_008236 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008237 commonName VAR_008237
VAR_008237 disease phenotype-associated
VAR_008237 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008238 commonName VAR_008238
VAR_008238 disease phenotype-associated
VAR_008238 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008239 commonName VAR_008239
VAR_008239 disease not phenotype-associated
VAR_008240 commonName VAR_008240
VAR_008240 disease phenotype-associated
VAR_008240 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008241 commonName VAR_008241
VAR_008241 disease phenotype-associated
VAR_008241 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008242 commonName VAR_008242
VAR_008242 disease phenotype-associated
VAR_008242 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008243 commonName VAR_008243
VAR_008243 disease phenotype-associated
VAR_008243 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008244 commonName VAR_008244
VAR_008244 disease phenotype-associated
VAR_008244 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008245 commonName VAR_008245
VAR_008245 disease phenotype-associated
VAR_008245 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008246 commonName VAR_008246
VAR_008246 disease phenotype-associated
VAR_008246 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008247 commonName VAR_008247
VAR_008247 disease phenotype-associated
VAR_008247 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008248 commonName VAR_008248
VAR_008248 disease phenotype-associated
VAR_008248 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008249 commonName VAR_008249
VAR_008249 disease phenotype-associated
VAR_008249 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008251 commonName VAR_008251
VAR_008251 disease phenotype-associated
VAR_008251 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008252 commonName VAR_008252
VAR_008252 disease phenotype-associated
VAR_008252 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008253 commonName VAR_008253
VAR_008253 disease phenotype-associated
VAR_008253 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008254 commonName VAR_008254
VAR_008254 disease phenotype-associated
VAR_008254 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008255 commonName VAR_008255
VAR_008255 disease phenotype-associated
VAR_008255 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008256 commonName VAR_008256
VAR_008256 disease phenotype-associated
VAR_008256 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008257 commonName VAR_008257
VAR_008257 disease phenotype-associated
VAR_008257 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008258 commonName VAR_008258
VAR_008258 disease phenotype-associated
VAR_008258 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008259 commonName VAR_008259
VAR_008259 disease phenotype-associated
VAR_008259 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008260 commonName VAR_008260
VAR_008260 disease phenotype-associated
VAR_008260 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008261 commonName VAR_008261
VAR_008261 disease phenotype-associated
VAR_008261 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008262 commonName VAR_008262
VAR_008262 disease phenotype-associated
VAR_008262 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_008263 commonName VAR_008263
VAR_008263 disease not phenotype-associated
VAR_008264 commonName VAR_008264
VAR_008264 disease not phenotype-associated
VAR_008265 commonName VAR_008265
VAR_008265 disease not phenotype-associated
VAR_008269 commonName VAR_008269
VAR_008269 disease not phenotype-associated
VAR_008270 commonName VAR_008270
VAR_008270 disease not phenotype-associated
VAR_008271 commonName VAR_008271
VAR_008271 disease not phenotype-associated
VAR_008272 commonName VAR_008272
VAR_008272 disease not phenotype-associated
VAR_008273 commonName VAR_008273
VAR_008273 disease phenotype-associated
VAR_008273 phenoCommon Choroideremia (CHM) [MIM:303100]
VAR_008274 commonName VAR_008274
VAR_008274 disease not phenotype-associated
VAR_008275 commonName VAR_008275
VAR_008275 disease phenotype-associated
VAR_008275 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_008276 commonName VAR_008276
VAR_008276 disease not phenotype-associated
VAR_008277 commonName VAR_008277
VAR_008277 disease phenotype-associated
VAR_008277 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_008278 commonName VAR_008278
VAR_008278 disease phenotype-associated
VAR_008278 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_008279 commonName VAR_008279
VAR_008279 disease phenotype-associated
VAR_008279 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_008282 commonName VAR_008282
VAR_008282 disease phenotype-associated
VAR_008282 phenoCommon Retinitis pigmentosa (RP) [MIM:268000]
VAR_008283 commonName VAR_008283
VAR_008283 disease not phenotype-associated
VAR_008284 commonName VAR_008284
VAR_008284 disease not phenotype-associated
VAR_008285 commonName VAR_008285
VAR_008285 disease not phenotype-associated
VAR_008286 commonName VAR_008286
VAR_008286 disease not phenotype-associated
VAR_008287 commonName VAR_008287
VAR_008287 disease not phenotype-associated
VAR_008288 commonName VAR_008288
VAR_008288 disease not phenotype-associated
VAR_008289 commonName VAR_008289
VAR_008289 disease not phenotype-associated
VAR_008290 commonName VAR_008290
VAR_008290 disease phenotype-associated
VAR_008290 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900]
VAR_008291 commonName VAR_008291
VAR_008291 disease phenotype-associated
VAR_008291 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008292 commonName VAR_008292
VAR_008292 disease phenotype-associated
VAR_008292 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008293 commonName VAR_008293
VAR_008293 disease phenotype-associated
VAR_008293 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008294 commonName VAR_008294
VAR_008294 disease phenotype-associated
VAR_008294 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008295 commonName VAR_008295
VAR_008295 disease phenotype-associated
VAR_008295 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008296 commonName VAR_008296
VAR_008296 disease phenotype-associated
VAR_008296 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008297 commonName VAR_008297
VAR_008297 disease phenotype-associated
VAR_008297 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008298 commonName VAR_008298
VAR_008298 disease phenotype-associated
VAR_008298 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008299 commonName VAR_008299
VAR_008299 disease phenotype-associated
VAR_008299 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008300 commonName VAR_008300
VAR_008300 disease phenotype-associated
VAR_008300 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008301 commonName VAR_008301
VAR_008301 disease phenotype-associated
VAR_008301 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008302 commonName VAR_008302
VAR_008302 disease phenotype-associated
VAR_008302 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008303 commonName VAR_008303
VAR_008303 disease phenotype-associated
VAR_008303 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008304 commonName VAR_008304
VAR_008304 disease phenotype-associated
VAR_008304 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008305 commonName VAR_008305
VAR_008305 disease phenotype-associated
VAR_008305 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008306 commonName VAR_008306
VAR_008306 disease phenotype-associated
VAR_008306 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008307 commonName VAR_008307
VAR_008307 disease phenotype-associated
VAR_008307 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008308 commonName VAR_008308
VAR_008308 disease phenotype-associated
VAR_008308 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008309 commonName VAR_008309
VAR_008309 disease phenotype-associated
VAR_008309 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008310 commonName VAR_008310
VAR_008310 disease phenotype-associated
VAR_008310 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008311 commonName VAR_008311
VAR_008311 disease phenotype-associated
VAR_008311 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008312 commonName VAR_008312
VAR_008312 disease phenotype-associated
VAR_008312 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008313 commonName VAR_008313
VAR_008313 disease phenotype-associated
VAR_008313 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008314 commonName VAR_008314
VAR_008314 disease phenotype-associated
VAR_008314 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008315 commonName VAR_008315
VAR_008315 disease phenotype-associated
VAR_008315 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008316 commonName VAR_008316
VAR_008316 disease phenotype-associated
VAR_008316 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008317 commonName VAR_008317
VAR_008317 disease phenotype-associated
VAR_008317 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008318 commonName VAR_008318
VAR_008318 disease phenotype-associated
VAR_008318 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008319 commonName VAR_008319
VAR_008319 disease phenotype-associated
VAR_008319 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008320 commonName VAR_008320
VAR_008320 disease phenotype-associated
VAR_008320 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008321 commonName VAR_008321
VAR_008321 disease phenotype-associated
VAR_008321 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008322 commonName VAR_008322
VAR_008322 disease phenotype-associated
VAR_008322 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008323 commonName VAR_008323
VAR_008323 disease phenotype-associated
VAR_008323 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008342 commonName VAR_008342
VAR_008342 disease not phenotype-associated
VAR_008343 commonName VAR_008343
VAR_008343 disease not phenotype-associated
VAR_008344 commonName VAR_008344
VAR_008344 disease not phenotype-associated
VAR_008345 commonName VAR_008345
VAR_008345 disease not phenotype-associated
VAR_008346 commonName VAR_008346
VAR_008346 disease not phenotype-associated
VAR_008350 commonName VAR_008350
VAR_008350 disease phenotype-associated
VAR_008350 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_008351 commonName VAR_008351
VAR_008351 disease not phenotype-associated
VAR_008352 commonName VAR_008352
VAR_008352 disease phenotype-associated
VAR_008352 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_008352 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_008353 commonName VAR_008353
VAR_008353 disease phenotype-associated
VAR_008353 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_008354 commonName VAR_008354
VAR_008354 disease phenotype-associated
VAR_008354 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_008355 commonName VAR_008355
VAR_008355 disease not phenotype-associated
VAR_008356 commonName VAR_008356
VAR_008356 disease not phenotype-associated
VAR_008357 commonName VAR_008357
VAR_008357 disease not phenotype-associated
VAR_008358 commonName VAR_008358
VAR_008358 disease not phenotype-associated
VAR_008359 commonName VAR_008359
VAR_008359 disease not phenotype-associated
VAR_008360 commonName VAR_008360
VAR_008360 disease not phenotype-associated
VAR_008361 commonName VAR_008361
VAR_008361 disease not phenotype-associated
VAR_008363 commonName VAR_008363
VAR_008363 disease not phenotype-associated
VAR_008364 commonName VAR_008364
VAR_008364 disease not phenotype-associated
VAR_008365 commonName VAR_008365
VAR_008365 disease not phenotype-associated
VAR_008375 commonName VAR_008375
VAR_008375 disease not phenotype-associated
VAR_008376 commonName VAR_008376
VAR_008376 disease phenotype-associated
VAR_008376 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_008377 commonName VAR_008377
VAR_008377 disease phenotype-associated
VAR_008377 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_008378 commonName VAR_008378
VAR_008378 disease phenotype-associated
VAR_008378 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_008384 commonName VAR_008384
VAR_008384 disease not phenotype-associated
VAR_008398 commonName VAR_008398
VAR_008398 disease phenotype-associated
VAR_008398 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008399 commonName VAR_008399
VAR_008399 disease phenotype-associated
VAR_008399 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008400 commonName VAR_008400
VAR_008400 disease phenotype-associated
VAR_008400 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008401 commonName VAR_008401
VAR_008401 disease phenotype-associated
VAR_008401 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008401 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008402 commonName VAR_008402
VAR_008402 disease phenotype-associated
VAR_008402 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008403 commonName VAR_008403
VAR_008403 disease phenotype-associated
VAR_008403 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008404 commonName VAR_008404
VAR_008404 disease phenotype-associated
VAR_008404 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008405 commonName VAR_008405
VAR_008405 disease phenotype-associated
VAR_008405 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008406 commonName VAR_008406
VAR_008406 disease phenotype-associated
VAR_008406 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008406 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008407 commonName VAR_008407
VAR_008407 disease phenotype-associated
VAR_008407 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008408 commonName VAR_008408
VAR_008408 disease phenotype-associated
VAR_008408 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008409 commonName VAR_008409
VAR_008409 disease phenotype-associated
VAR_008409 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008410 commonName VAR_008410
VAR_008410 disease phenotype-associated
VAR_008410 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008411 commonName VAR_008411
VAR_008411 disease phenotype-associated
VAR_008411 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008411 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008412 commonName VAR_008412
VAR_008412 disease phenotype-associated
VAR_008412 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008413 commonName VAR_008413
VAR_008413 disease phenotype-associated
VAR_008413 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008413 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008414 commonName VAR_008414
VAR_008414 disease phenotype-associated
VAR_008414 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008415 commonName VAR_008415
VAR_008415 disease phenotype-associated
VAR_008415 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008415 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008415 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008416 commonName VAR_008416
VAR_008416 disease phenotype-associated
VAR_008416 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008417 commonName VAR_008417
VAR_008417 disease phenotype-associated
VAR_008417 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008418 commonName VAR_008418
VAR_008418 disease phenotype-associated
VAR_008418 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008419 commonName VAR_008419
VAR_008419 disease phenotype-associated
VAR_008419 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008420 commonName VAR_008420
VAR_008420 disease not phenotype-associated
VAR_008421 commonName VAR_008421
VAR_008421 disease phenotype-associated
VAR_008421 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008422 commonName VAR_008422
VAR_008422 disease phenotype-associated
VAR_008422 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008422 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008423 commonName VAR_008423
VAR_008423 disease phenotype-associated
VAR_008423 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008424 commonName VAR_008424
VAR_008424 disease phenotype-associated
VAR_008424 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008425 commonName VAR_008425
VAR_008425 disease phenotype-associated
VAR_008425 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008425 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008425 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008426 commonName VAR_008426
VAR_008426 disease not phenotype-associated
VAR_008427 commonName VAR_008427
VAR_008427 disease phenotype-associated
VAR_008427 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008428 commonName VAR_008428
VAR_008428 disease not phenotype-associated
VAR_008429 commonName VAR_008429
VAR_008429 disease phenotype-associated
VAR_008429 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008430 commonName VAR_008430
VAR_008430 disease phenotype-associated
VAR_008430 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008431 commonName VAR_008431
VAR_008431 disease phenotype-associated
VAR_008431 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008432 commonName VAR_008432
VAR_008432 disease phenotype-associated
VAR_008432 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008433 commonName VAR_008433
VAR_008433 disease phenotype-associated
VAR_008433 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008433 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008433 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008434 commonName VAR_008434
VAR_008434 disease phenotype-associated
VAR_008434 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008435 commonName VAR_008435
VAR_008435 disease phenotype-associated
VAR_008435 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008436 commonName VAR_008436
VAR_008436 disease phenotype-associated
VAR_008436 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008437 commonName VAR_008437
VAR_008437 disease phenotype-associated
VAR_008437 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008438 commonName VAR_008438
HbVar.674 phenoCommon Hemoglobin variant
VAR_008438 disease phenotype-associated
VAR_008438 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008438 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008439 commonName VAR_008439
VAR_008439 disease phenotype-associated
VAR_008439 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008439 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008440 commonName VAR_008440
VAR_008440 disease phenotype-associated
VAR_008440 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008441 commonName VAR_008441
VAR_008441 disease phenotype-associated
VAR_008441 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008442 commonName VAR_008442
VAR_008442 disease not phenotype-associated
VAR_008443 commonName VAR_008443
VAR_008443 disease phenotype-associated
VAR_008443 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008444 commonName VAR_008444
VAR_008444 disease phenotype-associated
VAR_008444 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008445 commonName VAR_008445
VAR_008445 disease phenotype-associated
VAR_008445 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008446 commonName VAR_008446
VAR_008446 disease phenotype-associated
VAR_008446 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008447 commonName VAR_008447
VAR_008447 disease phenotype-associated
VAR_008447 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008448 commonName VAR_008448
VAR_008448 disease phenotype-associated
VAR_008448 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008449 commonName VAR_008449
VAR_008449 disease phenotype-associated
VAR_008449 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008450 commonName VAR_008450
VAR_008450 disease phenotype-associated
VAR_008450 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008451 commonName VAR_008451
VAR_008451 disease phenotype-associated
VAR_008451 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008452 commonName VAR_008452
VAR_008452 disease phenotype-associated
VAR_008452 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008453 commonName VAR_008453
VAR_008453 disease phenotype-associated
VAR_008453 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008453 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008454 commonName VAR_008454
VAR_008454 disease phenotype-associated
VAR_008454 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008454 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008455 commonName VAR_008455
VAR_008455 disease phenotype-associated
VAR_008455 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008456 commonName VAR_008456
VAR_008456 disease phenotype-associated
VAR_008456 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008457 commonName VAR_008457
VAR_008457 disease phenotype-associated
VAR_008457 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008458 commonName VAR_008458
VAR_008458 disease phenotype-associated
VAR_008458 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008458 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008458 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008458 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008459 commonName VAR_008459
VAR_008459 disease phenotype-associated
VAR_008459 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008460 commonName VAR_008460
VAR_008460 disease phenotype-associated
VAR_008460 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008461 commonName VAR_008461
VAR_008461 disease phenotype-associated
VAR_008461 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008461 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008462 commonName VAR_008462
VAR_008462 disease phenotype-associated
VAR_008462 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008463 commonName VAR_008463
VAR_008463 disease phenotype-associated
VAR_008463 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008464 commonName VAR_008464
VAR_008464 disease phenotype-associated
VAR_008464 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008465 commonName VAR_008465
VAR_008465 disease phenotype-associated
VAR_008465 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008466 commonName VAR_008466
VAR_008466 disease phenotype-associated
VAR_008466 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008467 commonName VAR_008467
VAR_008467 disease phenotype-associated
VAR_008467 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008468 commonName VAR_008468
VAR_008468 disease phenotype-associated
VAR_008468 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008469 commonName VAR_008469
VAR_008469 disease phenotype-associated
VAR_008469 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008470 commonName VAR_008470
VAR_008470 disease not phenotype-associated
VAR_008471 commonName VAR_008471
VAR_008471 disease phenotype-associated
VAR_008471 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008473 commonName VAR_008473
VAR_008473 disease phenotype-associated
VAR_008473 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008473 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008474 commonName VAR_008474
VAR_008474 disease not phenotype-associated
VAR_008475 commonName VAR_008475
VAR_008475 disease phenotype-associated
VAR_008475 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008475 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008476 commonName VAR_008476
VAR_008476 disease phenotype-associated
VAR_008476 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008476 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008477 commonName VAR_008477
VAR_008477 disease phenotype-associated
VAR_008477 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_008477 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008478 commonName VAR_008478
VAR_008478 disease phenotype-associated
VAR_008478 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008478 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008480 commonName VAR_008480
VAR_008480 disease phenotype-associated
VAR_008480 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008480 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008481 commonName VAR_008481
VAR_008481 disease phenotype-associated
VAR_008481 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008482 commonName VAR_008482
VAR_008482 disease phenotype-associated
VAR_008482 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008483 commonName VAR_008483
VAR_008483 disease phenotype-associated
VAR_008483 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008484 commonName VAR_008484
VAR_008484 disease phenotype-associated
VAR_008484 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_008484 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008485 commonName VAR_008485
VAR_008485 disease phenotype-associated
VAR_008485 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008486 commonName VAR_008486
VAR_008486 disease phenotype-associated
VAR_008486 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008487 commonName VAR_008487
VAR_008487 disease phenotype-associated
VAR_008487 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008488 commonName VAR_008488
VAR_008488 disease phenotype-associated
VAR_008488 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008489 commonName VAR_008489
VAR_008489 disease phenotype-associated
VAR_008489 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_008489 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008490 commonName VAR_008490
VAR_008490 disease phenotype-associated
VAR_008490 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008491 commonName VAR_008491
VAR_008491 disease not phenotype-associated
VAR_008492 commonName VAR_008492
VAR_008492 disease phenotype-associated
VAR_008492 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008493 commonName VAR_008493
VAR_008493 disease not phenotype-associated
VAR_008494 commonName VAR_008494
VAR_008494 disease not phenotype-associated
VAR_008495 commonName VAR_008495
VAR_008495 disease phenotype-associated
VAR_008495 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_008498 commonName VAR_008498
VAR_008498 disease phenotype-associated
VAR_008498 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_008499 commonName VAR_008499
VAR_008499 disease phenotype-associated
VAR_008499 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_008500 commonName VAR_008500
VAR_008500 disease phenotype-associated
VAR_008500 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_008513 commonName VAR_008513
VAR_008513 disease phenotype-associated
VAR_008513 phenoCommon Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]
VAR_008514 commonName VAR_008514
VAR_008514 disease phenotype-associated
VAR_008514 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_008516 commonName VAR_008516
VAR_008516 disease not phenotype-associated
VAR_008517 commonName VAR_008517
VAR_008517 disease not phenotype-associated
VAR_008518 commonName VAR_008518
VAR_008518 disease not phenotype-associated
VAR_008519 commonName VAR_008519
VAR_008519 disease not phenotype-associated
VAR_008520 commonName VAR_008520
VAR_008520 disease phenotype-associated
VAR_008520 phenoCommon Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]
VAR_008521 commonName VAR_008521
VAR_008521 disease phenotype-associated
VAR_008521 phenoCommon Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]
VAR_008522 commonName VAR_008522
VAR_008522 disease not phenotype-associated
VAR_008523 commonName VAR_008523
VAR_008523 disease not phenotype-associated
VAR_008524 commonName VAR_008524
VAR_008524 disease not phenotype-associated
VAR_008525 commonName VAR_008525
VAR_008525 disease phenotype-associated
VAR_008525 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_008526 commonName VAR_008526
VAR_008526 disease phenotype-associated
VAR_008526 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_008527 commonName VAR_008527
VAR_008527 disease phenotype-associated
VAR_008527 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_008528 commonName VAR_008528
VAR_008528 disease phenotype-associated
VAR_008528 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_008529 commonName VAR_008529
VAR_008529 disease phenotype-associated
VAR_008529 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_008530 commonName VAR_008530
VAR_008530 disease phenotype-associated
VAR_008530 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_008531 commonName VAR_008531
VAR_008531 disease phenotype-associated
VAR_008531 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_008532 commonName VAR_008532
VAR_008532 disease phenotype-associated
VAR_008532 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_008533 commonName VAR_008533
VAR_008533 disease phenotype-associated
VAR_008533 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_008534 commonName VAR_008534
VAR_008534 disease phenotype-associated
VAR_008534 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_008535 commonName VAR_008535
VAR_008535 disease phenotype-associated
VAR_008535 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_008536 commonName VAR_008536
VAR_008536 disease phenotype-associated
VAR_008536 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_008537 commonName VAR_008537
VAR_008537 disease phenotype-associated
VAR_008537 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008539 commonName VAR_008539
VAR_008539 disease phenotype-associated
VAR_008539 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008540 commonName VAR_008540
VAR_008540 disease phenotype-associated
VAR_008540 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008541 commonName VAR_008541
VAR_008541 disease phenotype-associated
VAR_008541 phenoCommon Complement component C1q deficiency (C1QD) [MIM:613652]
VAR_008542 commonName VAR_008542
VAR_008542 disease phenotype-associated
VAR_008542 phenoCommon Complement component C1q deficiency (C1QD) [MIM:613652]
VAR_008543 commonName VAR_008543
VAR_008543 disease not phenotype-associated
VAR_008547 commonName VAR_008547
VAR_008547 disease not phenotype-associated
VAR_008548 commonName VAR_008548
VAR_008548 disease not phenotype-associated
VAR_008549 commonName VAR_008549
VAR_008549 disease not phenotype-associated
VAR_008554 comment Colon cancer
VAR_008554 commonName VAR_008554
VAR_008554 disease phenotype-associated
VAR_008554 phenoCommon Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]
VAR_008555 commonName VAR_008555
VAR_008555 disease not phenotype-associated
VAR_008578 commonName VAR_008578
VAR_008578 disease phenotype-associated
VAR_008578 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008579 commonName VAR_008579
VAR_008579 disease phenotype-associated
VAR_008579 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008580 commonName VAR_008580
VAR_008580 disease phenotype-associated
VAR_008580 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008581 commonName VAR_008581
VAR_008581 disease phenotype-associated
VAR_008581 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008582 commonName VAR_008582
VAR_008582 disease phenotype-associated
VAR_008582 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008583 commonName VAR_008583
VAR_008583 disease phenotype-associated
VAR_008583 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008584 commonName VAR_008584
VAR_008584 disease phenotype-associated
VAR_008584 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008608 commonName VAR_008608
VAR_008608 disease phenotype-associated
VAR_008608 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008609 commonName VAR_008609
VAR_008609 disease phenotype-associated
VAR_008609 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008611 commonName VAR_008611
VAR_008611 disease phenotype-associated
VAR_008611 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008612 commonName VAR_008612
VAR_008612 disease phenotype-associated
VAR_008612 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008613 commonName VAR_008613
VAR_008613 disease phenotype-associated
VAR_008613 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008614 commonName VAR_008614
VAR_008614 disease phenotype-associated
VAR_008614 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008615 commonName VAR_008615
VAR_008615 disease phenotype-associated
VAR_008615 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008616 commonName VAR_008616
VAR_008616 disease phenotype-associated
VAR_008616 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008617 commonName VAR_008617
VAR_008617 disease phenotype-associated
VAR_008617 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008618 commonName VAR_008618
VAR_008618 disease phenotype-associated
VAR_008618 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008619 commonName VAR_008619
VAR_008619 disease phenotype-associated
VAR_008619 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008620 commonName VAR_008620
VAR_008620 disease phenotype-associated
VAR_008620 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008621 commonName VAR_008621
VAR_008621 disease phenotype-associated
VAR_008621 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008622 commonName VAR_008622
VAR_008622 disease phenotype-associated
VAR_008622 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008623 commonName VAR_008623
VAR_008623 disease phenotype-associated
VAR_008623 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008624 commonName VAR_008624
VAR_008624 disease phenotype-associated
VAR_008624 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008625 commonName VAR_008625
VAR_008625 disease phenotype-associated
VAR_008625 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008626 commonName VAR_008626
VAR_008626 disease phenotype-associated
VAR_008626 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008627 commonName VAR_008627
VAR_008627 disease phenotype-associated
VAR_008627 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008629 commonName VAR_008629
VAR_008629 disease phenotype-associated
VAR_008629 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008630 commonName VAR_008630
VAR_008630 disease phenotype-associated
VAR_008630 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008631 commonName VAR_008631
VAR_008631 disease phenotype-associated
VAR_008631 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008632 commonName VAR_008632
VAR_008632 disease phenotype-associated
VAR_008632 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008633 commonName VAR_008633
VAR_008633 disease phenotype-associated
VAR_008633 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008634 commonName VAR_008634
VAR_008634 disease phenotype-associated
VAR_008634 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008635 commonName VAR_008635
VAR_008635 disease phenotype-associated
VAR_008635 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008636 commonName VAR_008636
VAR_008636 disease phenotype-associated
VAR_008636 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008637 commonName VAR_008637
VAR_008637 disease phenotype-associated
VAR_008637 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008638 commonName VAR_008638
VAR_008638 disease phenotype-associated
VAR_008638 phenoCommon Darier disease (DD) [MIM:124200]
VAR_008639 commonName VAR_008639
VAR_008639 disease phenotype-associated
VAR_008639 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008640 commonName VAR_008640
VAR_008640 disease phenotype-associated
VAR_008640 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008641 commonName VAR_008641
VAR_008641 disease phenotype-associated
VAR_008641 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008642 commonName VAR_008642
VAR_008642 disease phenotype-associated
VAR_008642 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008643 commonName VAR_008643
VAR_008643 disease not phenotype-associated
VAR_008644 commonName VAR_008644
VAR_008644 disease phenotype-associated
VAR_008644 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008645 commonName VAR_008645
VAR_008645 disease not phenotype-associated
VAR_008646 commonName VAR_008646
VAR_008646 disease phenotype-associated
VAR_008646 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008647 commonName VAR_008647
VAR_008647 disease not phenotype-associated
VAR_008648 commonName VAR_008648
VAR_008648 disease not phenotype-associated
VAR_008649 commonName VAR_008649
VAR_008649 disease phenotype-associated
VAR_008649 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008650 commonName VAR_008650
VAR_008650 disease phenotype-associated
VAR_008650 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008651 commonName VAR_008651
VAR_008651 disease not phenotype-associated
VAR_008652 commonName VAR_008652
VAR_008652 disease not phenotype-associated
VAR_008653 commonName VAR_008653
VAR_008653 disease phenotype-associated
VAR_008653 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008654 commonName VAR_008654
VAR_008654 disease phenotype-associated
VAR_008654 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008655 commonName VAR_008655
VAR_008655 disease phenotype-associated
VAR_008655 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008656 commonName VAR_008656
VAR_008656 disease phenotype-associated
VAR_008656 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_008658 commonName VAR_008658
VAR_008658 disease not phenotype-associated
VAR_008671 commonName VAR_008671
VAR_008671 disease phenotype-associated
VAR_008671 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008672 commonName VAR_008672
VAR_008672 disease phenotype-associated
VAR_008672 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008673 commonName VAR_008673
VAR_008673 disease phenotype-associated
VAR_008673 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_008674 commonName VAR_008674
VAR_008674 disease phenotype-associated
VAR_008674 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_008675 commonName VAR_008675
VAR_008675 disease phenotype-associated
VAR_008675 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008676 commonName VAR_008676
VAR_008676 disease phenotype-associated
VAR_008676 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008677 commonName VAR_008677
VAR_008677 disease phenotype-associated
VAR_008677 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008678 commonName VAR_008678
VAR_008678 disease phenotype-associated
VAR_008678 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_008679 commonName VAR_008679
VAR_008679 disease phenotype-associated
VAR_008679 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008680 commonName VAR_008680
VAR_008681 commonName VAR_008681
VAR_008681 disease not phenotype-associated
VAR_008682 commonName VAR_008682
VAR_008682 disease phenotype-associated
VAR_008682 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008683 commonName VAR_008683
VAR_008683 disease phenotype-associated
VAR_008683 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_008684 commonName VAR_008684
VAR_008684 disease phenotype-associated
VAR_008684 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008685 commonName VAR_008685
VAR_008685 disease phenotype-associated
VAR_008685 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_008686 commonName VAR_008686
VAR_008686 disease phenotype-associated
VAR_008686 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_008687 commonName VAR_008687
VAR_008687 disease not phenotype-associated
VAR_008689 commonName VAR_008689
VAR_008689 disease phenotype-associated
VAR_008689 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_008690 commonName VAR_008690
VAR_008690 disease phenotype-associated
VAR_008690 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_008694 commonName VAR_008694
VAR_008694 disease phenotype-associated
VAR_008694 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008695 commonName VAR_008695
VAR_008695 disease phenotype-associated
VAR_008695 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008697 commonName VAR_008697
VAR_008697 disease phenotype-associated
VAR_008697 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008698 commonName VAR_008698
VAR_008698 disease phenotype-associated
VAR_008698 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008699 commonName VAR_008699
VAR_008699 disease phenotype-associated
VAR_008699 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008700 commonName VAR_008700
VAR_008700 disease phenotype-associated
VAR_008700 phenoCommon Peters anomaly (PAN) [MIM:604229]
VAR_008701 commonName VAR_008701
VAR_008701 disease phenotype-associated
VAR_008701 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008702 commonName VAR_008702
VAR_008702 disease phenotype-associated
VAR_008702 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520]
VAR_008703 commonName VAR_008703
VAR_008703 disease phenotype-associated
VAR_008703 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008704 commonName VAR_008704
VAR_008704 disease phenotype-associated
VAR_008704 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008705 commonName VAR_008705
VAR_008705 disease phenotype-associated
VAR_008705 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008706 commonName VAR_008706
VAR_008706 disease phenotype-associated
VAR_008706 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008707 commonName VAR_008707
VAR_008707 disease phenotype-associated
VAR_008707 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008708 commonName VAR_008708
VAR_008708 disease phenotype-associated
VAR_008708 phenoCommon Aniridia (AN) [MIM:106210]
VAR_008709 commonName VAR_008709
VAR_008709 disease phenotype-associated
VAR_008709 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_008710 commonName VAR_008710
VAR_008710 disease phenotype-associated
VAR_008710 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]
VAR_008710 phenoCommon Vohwinkel syndrome (VS) [MIM:124500]
VAR_008711 commonName VAR_008711
VAR_008711 disease phenotype-associated
VAR_008711 phenoCommon Deafness autosomal dominant type 3B (DFNA3B) [MIM:612643]
VAR_008712 commonName VAR_008712
VAR_008712 disease phenotype-associated
VAR_008712 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
VAR_008713 commonName VAR_008713
VAR_008713 disease phenotype-associated
VAR_008713 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
VAR_008714 commonName VAR_008714
VAR_008714 disease phenotype-associated
VAR_008714 phenoCommon Leber congenital amaurosis type 7 (LCA7) [MIM:613829]
VAR_008717 commonName VAR_008717
VAR_008717 disease phenotype-associated
VAR_008717 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008718 commonName VAR_008718
VAR_008718 disease phenotype-associated
VAR_008718 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008719 commonName VAR_008719
VAR_008719 disease phenotype-associated
VAR_008719 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008720 commonName VAR_008720
VAR_008720 disease phenotype-associated
VAR_008720 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008722 commonName VAR_008722
VAR_008722 disease phenotype-associated
VAR_008722 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008724 commonName VAR_008724
VAR_008724 disease phenotype-associated
VAR_008724 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008725 commonName VAR_008725
VAR_008725 disease phenotype-associated
VAR_008725 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_008726 commonName VAR_008726
VAR_008726 disease phenotype-associated
VAR_008726 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_008727 commonName VAR_008727
VAR_008727 disease phenotype-associated
VAR_008727 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_008728 commonName VAR_008728
VAR_008728 disease phenotype-associated
VAR_008728 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_008729 commonName VAR_008729
VAR_008729 disease phenotype-associated
VAR_008729 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_008730 commonName VAR_008730
VAR_008730 disease phenotype-associated
VAR_008730 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_008731 commonName VAR_008731
VAR_008731 disease not phenotype-associated
VAR_008734 commonName VAR_008734
VAR_008734 disease phenotype-associated
VAR_008734 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_008735 commonName VAR_008735
VAR_008735 disease phenotype-associated
VAR_008735 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_008736 commonName VAR_008736
VAR_008736 disease phenotype-associated
VAR_008736 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_008738 commonName VAR_008738
VAR_008738 disease phenotype-associated
VAR_008738 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008739 commonName VAR_008739
VAR_008739 disease phenotype-associated
VAR_008739 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008740 commonName VAR_008740
VAR_008740 disease phenotype-associated
VAR_008740 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_008740 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008741 commonName VAR_008741
VAR_008741 disease phenotype-associated
VAR_008741 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008742 commonName VAR_008742
VAR_008742 disease phenotype-associated
VAR_008742 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008743 commonName VAR_008743
VAR_008743 disease phenotype-associated
VAR_008743 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_008746 commonName VAR_008746
VAR_008746 disease phenotype-associated
VAR_008746 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_008747 commonName VAR_008747
VAR_008747 disease not phenotype-associated
VAR_008748 commonName VAR_008748
VAR_008749 commonName VAR_008749
VAR_008749 disease phenotype-associated
VAR_008749 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_008749 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_008750 commonName VAR_008750
VAR_008750 disease phenotype-associated
VAR_008750 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_008751 commonName VAR_008751
VAR_008751 disease phenotype-associated
VAR_008751 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_008751 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_008752 commonName VAR_008752
VAR_008752 disease phenotype-associated
VAR_008752 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400]
VAR_008752 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
VAR_008753 commonName VAR_008753
VAR_008753 disease phenotype-associated
VAR_008753 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_008755 commonName VAR_008755
VAR_008755 disease not phenotype-associated
VAR_008756 commonName VAR_008756
VAR_008756 disease not phenotype-associated
VAR_008757 commonName VAR_008757
VAR_008757 disease not phenotype-associated
VAR_008758 commonName VAR_008758
VAR_008758 disease not phenotype-associated
VAR_008759 commonName VAR_008759
VAR_008760 commonName VAR_008760
VAR_008766 commonName VAR_008766
VAR_008766 disease not phenotype-associated
VAR_008767 commonName VAR_008767
VAR_008768 commonName VAR_008768
VAR_008768 disease not phenotype-associated
VAR_008769 commonName VAR_008769
VAR_008769 disease not phenotype-associated
VAR_008770 commonName VAR_008770
VAR_008770 disease not phenotype-associated
VAR_008771 commonName VAR_008771
VAR_008771 disease not phenotype-associated
VAR_008772 commonName VAR_008772
VAR_008774 commonName VAR_008774
VAR_008774 disease not phenotype-associated
VAR_008775 commonName VAR_008775
VAR_008775 disease not phenotype-associated
VAR_008776 commonName VAR_008776
VAR_008776 disease not phenotype-associated
VAR_008777 commonName VAR_008777
VAR_008777 disease not phenotype-associated
VAR_008778 commonName VAR_008778
VAR_008778 disease not phenotype-associated
VAR_008779 commonName VAR_008779
VAR_008780 commonName VAR_008780
VAR_008780 disease not phenotype-associated
VAR_008781 commonName VAR_008781
VAR_008781 disease not phenotype-associated
VAR_008782 commonName VAR_008782
VAR_008782 disease not phenotype-associated
VAR_008783 commonName VAR_008783
VAR_008783 disease phenotype-associated
VAR_008783 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_008784 commonName VAR_008784
VAR_008784 disease not phenotype-associated
VAR_008785 commonName VAR_008785
VAR_008785 disease not phenotype-associated
VAR_008786 commonName VAR_008786
VAR_008786 disease not phenotype-associated
VAR_008787 commonName VAR_008787
VAR_008787 disease not phenotype-associated
VAR_008788 commonName VAR_008788
VAR_008789 commonName VAR_008789
VAR_008790 comment Ovarian cancer
VAR_008790 commonName VAR_008790
VAR_008791 commonName VAR_008791
VAR_008791 disease not phenotype-associated
VAR_008792 commonName VAR_008792
VAR_008792 disease not phenotype-associated
VAR_008793 commonName VAR_008793
VAR_008793 disease not phenotype-associated
VAR_008794 commonName VAR_008794
VAR_008795 commonName VAR_008795
VAR_008795 disease not phenotype-associated
VAR_008796 commonName VAR_008796
VAR_008796 disease not phenotype-associated
VAR_008797 commonName VAR_008797
VAR_008797 disease not phenotype-associated
VAR_008798 commonName VAR_008798
VAR_008798 disease not phenotype-associated
VAR_008799 commonName VAR_008799
VAR_008799 disease not phenotype-associated
VAR_008800 commonName VAR_008800
VAR_008800 disease not phenotype-associated
VAR_008802 commonName VAR_008802
VAR_008802 disease not phenotype-associated
VAR_008803 commonName VAR_008803
VAR_008803 disease phenotype-associated
VAR_008803 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_008804 commonName VAR_008804
VAR_008804 disease phenotype-associated
VAR_008804 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_008809 commonName VAR_008809
VAR_008809 disease phenotype-associated
VAR_008809 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_008810 commonName VAR_008810
VAR_008810 disease phenotype-associated
VAR_008810 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_008812 commonName VAR_008812
VAR_008812 disease phenotype-associated
VAR_008812 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_008812 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_008813 commonName VAR_008813
VAR_008813 disease phenotype-associated
VAR_008813 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_008813 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_008815 commonName VAR_008815
VAR_008815 disease phenotype-associated
VAR_008815 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_008816 commonName VAR_008816
VAR_008816 disease not phenotype-associated
VAR_008817 commonName VAR_008817
VAR_008817 disease phenotype-associated
VAR_008817 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_008818 commonName VAR_008818
VAR_008818 disease not phenotype-associated
VAR_008819 commonName VAR_008819
VAR_008819 disease not phenotype-associated
VAR_008820 commonName VAR_008820
VAR_008820 disease phenotype-associated
VAR_008820 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_008821 commonName VAR_008821
VAR_008821 disease phenotype-associated
VAR_008821 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_008822 commonName VAR_008822
VAR_008822 disease phenotype-associated
VAR_008822 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_008823 commonName VAR_008823
VAR_008823 disease not phenotype-associated
VAR_008824 commonName VAR_008824
VAR_008824 disease not phenotype-associated
VAR_008845 commonName VAR_008845
VAR_008845 disease phenotype-associated
VAR_008845 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_008846 commonName VAR_008846
VAR_008846 disease phenotype-associated
VAR_008846 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_008848 commonName VAR_008848
VAR_008848 disease phenotype-associated
VAR_008848 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_008849 comment Colorectal cancer
VAR_008849 commonName VAR_008849
VAR_008850 comment Colorectal cancer
VAR_008850 commonName VAR_008850
VAR_008851 comment Colorectal cancer
VAR_008851 commonName VAR_008851
VAR_008852 comment A colorectal cancer cell line
VAR_008852 commonName VAR_008852
VAR_008853 commonName VAR_008853
VAR_008853 disease not phenotype-associated
VAR_008855 commonName VAR_008855
VAR_008855 disease not phenotype-associated
VAR_008857 commonName VAR_008857
VAR_008857 disease phenotype-associated
VAR_008857 phenoCommon Bamforth-Lazarus syndrome (BLS) [MIM:241850]
VAR_008858 commonName VAR_008858
VAR_008859 commonName VAR_008859
VAR_008859 disease not phenotype-associated
VAR_008860 commonName VAR_008860
VAR_008860 disease not phenotype-associated
VAR_008861 commonName VAR_008861
VAR_008861 disease not phenotype-associated
VAR_008862 commonName VAR_008862
VAR_008862 disease phenotype-associated
VAR_008862 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_008873 commonName VAR_008873
VAR_008873 disease not phenotype-associated
VAR_008874 commonName VAR_008874
VAR_008874 disease phenotype-associated
VAR_008874 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]
VAR_008875 commonName VAR_008875
VAR_008875 disease phenotype-associated
VAR_008875 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]
VAR_008876 commonName VAR_008876
VAR_008876 disease phenotype-associated
VAR_008876 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_008877 commonName VAR_008877
VAR_008877 disease phenotype-associated
VAR_008877 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_008877 phenoCommon Infantile Refsum disease (IRD) [MIM:266510]
VAR_008878 commonName VAR_008878
VAR_008878 disease phenotype-associated
VAR_008878 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_008882 commonName VAR_008882
VAR_008882 disease not phenotype-associated
VAR_008883 commonName VAR_008883
VAR_008883 disease phenotype-associated
VAR_008883 phenoCommon GABA transaminase deficiency (GABATD) [MIM:613163]
VAR_008884 commonName VAR_008884
VAR_008884 disease not phenotype-associated
VAR_008885 commonName VAR_008885
VAR_008885 disease not phenotype-associated
VAR_008886 commonName VAR_008886
VAR_008886 disease phenotype-associated
VAR_008886 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008887 commonName VAR_008887
VAR_008887 disease phenotype-associated
VAR_008887 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008888 commonName VAR_008888
VAR_008888 disease phenotype-associated
VAR_008888 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008889 commonName VAR_008889
VAR_008889 disease phenotype-associated
VAR_008889 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008890 commonName VAR_008890
VAR_008890 disease phenotype-associated
VAR_008890 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008891 commonName VAR_008891
VAR_008891 disease phenotype-associated
VAR_008891 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_008891 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008892 commonName VAR_008892
VAR_008892 disease not phenotype-associated
VAR_008893 commonName VAR_008893
VAR_008893 disease phenotype-associated
VAR_008893 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008894 commonName VAR_008894
VAR_008894 disease phenotype-associated
VAR_008894 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008895 commonName VAR_008895
VAR_008895 disease phenotype-associated
VAR_008895 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008896 commonName VAR_008896
VAR_008896 disease phenotype-associated
VAR_008896 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_008897 commonName VAR_008897
VAR_008897 disease phenotype-associated
VAR_008897 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]
VAR_008898 commonName VAR_008898
VAR_008898 disease phenotype-associated
VAR_008898 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]
VAR_008899 commonName VAR_008899
VAR_008899 disease phenotype-associated
VAR_008899 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]
VAR_008900 commonName VAR_008900
VAR_008900 disease phenotype-associated
VAR_008900 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_008901 commonName VAR_008901
VAR_008901 disease phenotype-associated
VAR_008901 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]
VAR_008901 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_008902 commonName VAR_008902
VAR_008902 disease not phenotype-associated
VAR_008903 commonName VAR_008903
VAR_008903 disease phenotype-associated
VAR_008903 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_008904 commonName VAR_008904
VAR_008904 disease phenotype-associated
VAR_008904 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_008905 commonName VAR_008905
VAR_008905 disease not phenotype-associated
VAR_008906 commonName VAR_008906
VAR_008906 disease not phenotype-associated
VAR_008907 commonName VAR_008907
VAR_008907 disease phenotype-associated
VAR_008907 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008908 commonName VAR_008908
VAR_008908 disease phenotype-associated
VAR_008908 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008909 commonName VAR_008909
VAR_008909 disease phenotype-associated
VAR_008909 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008910 commonName VAR_008910
VAR_008910 disease phenotype-associated
VAR_008910 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008911 commonName VAR_008911
VAR_008911 disease phenotype-associated
VAR_008911 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008912 commonName VAR_008912
VAR_008912 disease phenotype-associated
VAR_008912 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008913 commonName VAR_008913
VAR_008913 disease phenotype-associated
VAR_008913 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008914 commonName VAR_008914
VAR_008914 disease phenotype-associated
HbVar.675 protEffect HBD 117(G18) Arg>Cys
VAR_008914 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008915 commonName VAR_008915
VAR_008915 disease phenotype-associated
VAR_008915 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008916 commonName VAR_008916
VAR_008916 disease phenotype-associated
VAR_008916 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008917 commonName VAR_008917
VAR_008917 disease phenotype-associated
VAR_008917 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008918 commonName VAR_008918
VAR_008918 disease phenotype-associated
VAR_008918 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008919 commonName VAR_008919
VAR_008919 disease phenotype-associated
VAR_008919 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008920 commonName VAR_008920
VAR_008920 disease phenotype-associated
VAR_008920 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008921 commonName VAR_008921
VAR_008921 disease phenotype-associated
VAR_008921 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008922 commonName VAR_008922
VAR_008922 disease phenotype-associated
VAR_008922 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008923 commonName VAR_008923
VAR_008923 disease phenotype-associated
VAR_008923 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008924 commonName VAR_008924
VAR_008924 disease phenotype-associated
VAR_008924 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008925 commonName VAR_008925
VAR_008925 disease phenotype-associated
VAR_008925 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008926 commonName VAR_008926
VAR_008926 disease phenotype-associated
VAR_008926 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008927 commonName VAR_008927
VAR_008927 disease phenotype-associated
VAR_008927 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008928 commonName VAR_008928
VAR_008928 disease phenotype-associated
VAR_008928 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008929 commonName VAR_008929
VAR_008929 disease phenotype-associated
VAR_008929 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008930 commonName VAR_008930
VAR_008930 disease phenotype-associated
VAR_008930 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008931 commonName VAR_008931
VAR_008931 disease phenotype-associated
VAR_008931 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008932 commonName VAR_008932
VAR_008932 disease phenotype-associated
VAR_008932 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008933 commonName VAR_008933
VAR_008933 disease phenotype-associated
VAR_008933 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008934 commonName VAR_008934
VAR_008934 disease phenotype-associated
VAR_008934 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008935 commonName VAR_008935
VAR_008935 disease phenotype-associated
VAR_008935 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008936 commonName VAR_008936
VAR_008936 disease phenotype-associated
VAR_008936 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008937 commonName VAR_008937
VAR_008937 disease phenotype-associated
VAR_008937 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008938 commonName VAR_008938
VAR_008938 disease phenotype-associated
VAR_008938 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_008939 commonName VAR_008939
VAR_008939 disease phenotype-associated
VAR_008939 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008940 commonName VAR_008940
VAR_008940 disease phenotype-associated
VAR_008940 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008941 commonName VAR_008941
VAR_008941 disease phenotype-associated
VAR_008941 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]
VAR_008942 commonName VAR_008942
VAR_008942 disease phenotype-associated
VAR_008942 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008943 commonName VAR_008943
VAR_008943 disease phenotype-associated
VAR_008943 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008944 commonName VAR_008944
VAR_008944 disease phenotype-associated
VAR_008944 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]
VAR_008945 commonName VAR_008945
VAR_008945 disease phenotype-associated
VAR_008945 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008946 commonName VAR_008946
VAR_008946 disease phenotype-associated
VAR_008946 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008947 commonName VAR_008947
VAR_008947 disease phenotype-associated
VAR_008947 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008948 commonName VAR_008948
VAR_008948 disease phenotype-associated
VAR_008948 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_008955 commonName VAR_008955
VAR_008955 disease not phenotype-associated
VAR_008956 commonName VAR_008956
VAR_008956 disease phenotype-associated
VAR_008956 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_008957 commonName VAR_008957
VAR_008957 disease not phenotype-associated
VAR_008958 commonName VAR_008958
VAR_008958 disease phenotype-associated
VAR_008958 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_008959 commonName VAR_008959
VAR_008959 disease phenotype-associated
VAR_008959 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_008959 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_008960 commonName VAR_008960
VAR_008960 disease phenotype-associated
VAR_008960 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008961 commonName VAR_008961
VAR_008961 disease phenotype-associated
VAR_008961 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008962 commonName VAR_008962
VAR_008962 disease phenotype-associated
VAR_008962 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755]
VAR_008966 commonName VAR_008966
VAR_008966 disease not phenotype-associated
VAR_008967 commonName VAR_008967
VAR_008967 disease phenotype-associated
VAR_008967 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_008968 commonName VAR_008968
VAR_008968 disease phenotype-associated
VAR_008968 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_008969 commonName VAR_008969
VAR_008969 disease phenotype-associated
VAR_008969 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_008970 commonName VAR_008970
VAR_008970 disease phenotype-associated
VAR_008970 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_008971 commonName VAR_008971
VAR_008971 disease phenotype-associated
VAR_008971 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008972 commonName VAR_008972
VAR_008972 disease phenotype-associated
VAR_008972 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008973 commonName VAR_008973
VAR_008973 disease phenotype-associated
VAR_008973 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008974 commonName VAR_008974
VAR_008974 disease phenotype-associated
VAR_008974 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008975 commonName VAR_008975
VAR_008975 disease phenotype-associated
VAR_008975 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008976 commonName VAR_008976
VAR_008976 disease phenotype-associated
VAR_008976 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_008976 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008977 commonName VAR_008977
VAR_008977 disease phenotype-associated
VAR_008977 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008978 commonName VAR_008978
VAR_008978 disease phenotype-associated
VAR_008978 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_008979 commonName VAR_008979
VAR_008979 disease phenotype-associated
VAR_008979 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008980 commonName VAR_008980
VAR_008980 disease phenotype-associated
VAR_008980 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008982 commonName VAR_008982
VAR_008982 disease phenotype-associated
VAR_008982 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008983 commonName VAR_008983
VAR_008983 disease phenotype-associated
VAR_008983 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008984 commonName VAR_008984
VAR_008984 disease phenotype-associated
VAR_008984 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008985 commonName VAR_008985
VAR_008985 disease phenotype-associated
VAR_008985 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008986 commonName VAR_008986
VAR_008986 disease phenotype-associated
VAR_008986 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008987 commonName VAR_008987
VAR_008987 disease phenotype-associated
VAR_008987 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008988 commonName VAR_008988
VAR_008988 disease phenotype-associated
VAR_008988 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008989 commonName VAR_008989
VAR_008989 disease phenotype-associated
VAR_008989 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008990 commonName VAR_008990
VAR_008990 disease phenotype-associated
VAR_008990 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_008991 commonName VAR_008991
VAR_008991 disease not phenotype-associated
VAR_008992 commonName VAR_008992
VAR_008992 disease not phenotype-associated
VAR_008993 commonName VAR_008993
VAR_008993 disease not phenotype-associated
VAR_008995 commonName VAR_008995
VAR_008995 disease phenotype-associated
VAR_008995 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_008996 commonName VAR_008996
VAR_008996 disease phenotype-associated
VAR_008996 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_008998 commonName VAR_008998
VAR_008998 disease phenotype-associated
VAR_008998 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_008999 commonName VAR_008999
VAR_008999 disease phenotype-associated
VAR_008999 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_009001 commonName VAR_009001
VAR_009001 disease phenotype-associated
VAR_009001 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_009002 commonName VAR_009002
VAR_009002 disease phenotype-associated
VAR_009002 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_009004 commonName VAR_009004
VAR_009004 disease phenotype-associated
VAR_009004 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_009006 commonName VAR_009006
VAR_009006 disease phenotype-associated
VAR_009006 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_009007 commonName VAR_009007
VAR_009007 disease phenotype-associated
VAR_009007 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_009033 commonName VAR_009033
VAR_009033 disease phenotype-associated
VAR_009033 phenoCommon Gaucher disease type 2 (GD2) [MIM:230900]
VAR_009034 commonName VAR_009034
VAR_009034 disease phenotype-associated
VAR_009034 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009035 commonName VAR_009035
VAR_009035 disease phenotype-associated
VAR_009035 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_009035 phenoCommon Gaucher disease type 2 (GD2) [MIM:230900]
VAR_009036 commonName VAR_009036
VAR_009036 disease phenotype-associated
VAR_009036 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009037 commonName VAR_009037
VAR_009037 disease phenotype-associated
VAR_009037 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009038 commonName VAR_009038
VAR_009038 disease phenotype-associated
VAR_009038 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009039 commonName VAR_009039
VAR_009039 disease phenotype-associated
VAR_009039 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009040 commonName VAR_009040
VAR_009040 disease phenotype-associated
VAR_009040 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_009041 commonName VAR_009041
VAR_009041 disease phenotype-associated
VAR_009041 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009042 commonName VAR_009042
VAR_009042 disease phenotype-associated
VAR_009042 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009043 commonName VAR_009043
VAR_009043 disease phenotype-associated
VAR_009043 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009044 commonName VAR_009044
VAR_009045 commonName VAR_009045
VAR_009045 disease phenotype-associated
VAR_009045 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009046 commonName VAR_009046
VAR_009046 disease phenotype-associated
VAR_009046 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009047 commonName VAR_009047
VAR_009047 disease phenotype-associated
VAR_009047 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_009048 commonName VAR_009048
VAR_009051 commonName VAR_009051
VAR_009051 disease phenotype-associated
VAR_009051 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]
VAR_009051 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009052 commonName VAR_009052
VAR_009052 disease phenotype-associated
VAR_009052 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009053 commonName VAR_009053
VAR_009053 disease not phenotype-associated
VAR_009054 commonName VAR_009054
VAR_009054 disease phenotype-associated
VAR_009054 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009055 commonName VAR_009055
VAR_009055 disease phenotype-associated
VAR_009055 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009056 commonName VAR_009056
VAR_009056 disease phenotype-associated
VAR_009056 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009057 commonName VAR_009057
VAR_009057 disease phenotype-associated
VAR_009057 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009059 commonName VAR_009059
VAR_009059 disease phenotype-associated
VAR_009059 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009061 commonName VAR_009061
VAR_009061 disease phenotype-associated
VAR_009061 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]
VAR_009061 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009062 commonName VAR_009062
VAR_009062 disease phenotype-associated
VAR_009062 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]
VAR_009062 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009064 commonName VAR_009064
VAR_009064 disease phenotype-associated
VAR_009064 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009065 commonName VAR_009065
VAR_009065 disease phenotype-associated
VAR_009065 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009066 commonName VAR_009066
VAR_009067 commonName VAR_009067
VAR_009067 disease phenotype-associated
VAR_009067 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_009069 commonName VAR_009069
VAR_009069 disease not phenotype-associated
VAR_009070 commonName VAR_009070
VAR_009070 disease not phenotype-associated
VAR_009071 commonName VAR_009071
VAR_009071 disease not phenotype-associated
VAR_009072 commonName VAR_009072
VAR_009072 disease not phenotype-associated
VAR_009073 commonName VAR_009073
VAR_009073 disease not phenotype-associated
VAR_009074 commonName VAR_009074
VAR_009074 disease not phenotype-associated
VAR_009078 commonName VAR_009078
VAR_009078 disease phenotype-associated
VAR_009078 phenoCommon Hirschsprung disease type 4 (HSCR4) [MIM:613712]
VAR_009079 commonName VAR_009079
VAR_009079 disease phenotype-associated
VAR_009079 phenoCommon Hirschsprung disease type 4 (HSCR4) [MIM:613712]
VAR_009080 commonName VAR_009080
VAR_009080 disease phenotype-associated
VAR_009080 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009082 commonName VAR_009082
VAR_009082 disease phenotype-associated
VAR_009082 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009083 commonName VAR_009083
VAR_009083 disease phenotype-associated
VAR_009083 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009084 commonName VAR_009084
VAR_009084 disease phenotype-associated
VAR_009084 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009085 commonName VAR_009085
VAR_009085 disease phenotype-associated
VAR_009085 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009086 commonName VAR_009086
VAR_009086 disease phenotype-associated
VAR_009086 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_009087 commonName VAR_009087
VAR_009087 disease phenotype-associated
VAR_009087 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009088 commonName VAR_009088
VAR_009088 disease phenotype-associated
VAR_009088 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009089 commonName VAR_009089
VAR_009089 disease phenotype-associated
VAR_009089 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009090 commonName VAR_009090
VAR_009090 disease phenotype-associated
VAR_009090 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009091 commonName VAR_009091
VAR_009091 disease phenotype-associated
VAR_009091 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009092 commonName VAR_009092
VAR_009092 disease phenotype-associated
VAR_009092 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009093 commonName VAR_009093
VAR_009093 disease phenotype-associated
VAR_009093 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009094 commonName VAR_009094
VAR_009094 disease phenotype-associated
VAR_009094 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009095 commonName VAR_009095
VAR_009095 disease phenotype-associated
VAR_009095 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009096 commonName VAR_009096
VAR_009096 disease phenotype-associated
VAR_009096 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009097 commonName VAR_009097
VAR_009097 disease phenotype-associated
VAR_009097 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009098 commonName VAR_009098
VAR_009098 disease not phenotype-associated
VAR_009099 commonName VAR_009099
VAR_009099 disease phenotype-associated
VAR_009099 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009100 commonName VAR_009100
VAR_009100 disease phenotype-associated
VAR_009100 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009101 commonName VAR_009101
VAR_009101 disease phenotype-associated
VAR_009101 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_009103 commonName VAR_009103
VAR_009103 disease phenotype-associated
VAR_009103 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_009104 commonName VAR_009104
VAR_009104 disease phenotype-associated
VAR_009104 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_009104 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_009105 commonName VAR_009105
VAR_009105 disease phenotype-associated
VAR_009105 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_009106 commonName VAR_009106
VAR_009106 disease phenotype-associated
VAR_009106 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_009107 commonName VAR_009107
VAR_009107 disease phenotype-associated
VAR_009107 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_009108 commonName VAR_009108
VAR_009108 disease phenotype-associated
VAR_009108 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_009109 commonName VAR_009109
VAR_009109 disease phenotype-associated
VAR_009109 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009110 commonName VAR_009110
VAR_009110 disease phenotype-associated
VAR_009110 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009111 commonName VAR_009111
VAR_009111 disease phenotype-associated
VAR_009111 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009114 commonName VAR_009114
VAR_009114 disease phenotype-associated
VAR_009114 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009116 commonName VAR_009116
VAR_009116 disease phenotype-associated
VAR_009116 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009117 commonName VAR_009117
VAR_009117 disease phenotype-associated
VAR_009117 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_009120 commonName VAR_009120
VAR_009120 disease phenotype-associated
VAR_009120 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_009121 commonName VAR_009121
VAR_009121 disease phenotype-associated
VAR_009121 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_009122 commonName VAR_009122
VAR_009122 disease not phenotype-associated
VAR_009123 commonName VAR_009123
VAR_009123 disease phenotype-associated
VAR_009123 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_009124 commonName VAR_009124
VAR_009124 disease not phenotype-associated
VAR_009125 commonName VAR_009125
VAR_009125 disease not phenotype-associated
VAR_009126 commonName VAR_009126
VAR_009126 disease not phenotype-associated
VAR_009127 commonName VAR_009127
VAR_009127 disease not phenotype-associated
VAR_009129 commonName VAR_009129
VAR_009129 disease phenotype-associated
VAR_009129 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_009130 commonName VAR_009130
VAR_009130 disease phenotype-associated
VAR_009130 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_009131 commonName VAR_009131
VAR_009131 disease phenotype-associated
VAR_009131 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_009132 commonName VAR_009132
VAR_009132 disease not phenotype-associated
VAR_009133 commonName VAR_009133
VAR_009133 disease not phenotype-associated
VAR_009134 commonName VAR_009134
VAR_009134 disease phenotype-associated
VAR_009134 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_009135 commonName VAR_009135
VAR_009135 disease phenotype-associated
VAR_009135 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_009136 commonName VAR_009136
VAR_009136 disease not phenotype-associated
VAR_009137 commonName VAR_009137
VAR_009137 disease not phenotype-associated
VAR_009138 commonName VAR_009138
VAR_009138 disease phenotype-associated
VAR_009138 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_009139 commonName VAR_009139
VAR_009139 disease phenotype-associated
VAR_009139 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_009140 commonName VAR_009140
VAR_009140 disease phenotype-associated
VAR_009140 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_009141 commonName VAR_009141
VAR_009141 disease phenotype-associated
VAR_009141 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_009142 commonName VAR_009142
VAR_009142 disease phenotype-associated
VAR_009142 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_009143 commonName VAR_009143
VAR_009143 disease phenotype-associated
VAR_009143 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_009144 commonName VAR_009144
VAR_009144 disease phenotype-associated
VAR_009144 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_009145 commonName VAR_009145
VAR_009145 disease not phenotype-associated
VAR_009146 commonName VAR_009146
VAR_009146 disease phenotype-associated
VAR_009146 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009147 commonName VAR_009147
VAR_009147 disease phenotype-associated
VAR_009147 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009148 commonName VAR_009148
VAR_009148 disease phenotype-associated
VAR_009148 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009150 commonName VAR_009150
VAR_009150 disease phenotype-associated
VAR_009150 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009151 commonName VAR_009151
VAR_009151 disease phenotype-associated
VAR_009151 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009152 commonName VAR_009152
VAR_009152 disease phenotype-associated
VAR_009152 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009153 commonName VAR_009153
VAR_009153 disease phenotype-associated
VAR_009153 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009154 commonName VAR_009154
VAR_009154 disease phenotype-associated
VAR_009154 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009155 commonName VAR_009155
VAR_009155 disease phenotype-associated
VAR_009155 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_009156 commonName VAR_009156
VAR_009156 disease phenotype-associated
VAR_009156 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
VAR_009157 commonName VAR_009157
VAR_009157 disease not phenotype-associated
VAR_009158 commonName VAR_009158
VAR_009158 disease phenotype-associated
VAR_009158 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]
VAR_009159 commonName VAR_009159
VAR_009159 disease not phenotype-associated
VAR_009160 commonName VAR_009160
VAR_009160 disease not phenotype-associated
VAR_009161 commonName VAR_009161
VAR_009161 disease not phenotype-associated
VAR_009162 commonName VAR_009162
VAR_009162 disease not phenotype-associated
VAR_009163 commonName VAR_009163
VAR_009163 disease phenotype-associated
VAR_009163 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009164 commonName VAR_009164
VAR_009164 disease phenotype-associated
VAR_009164 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009165 commonName VAR_009165
VAR_009165 disease phenotype-associated
VAR_009165 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009166 commonName VAR_009166
VAR_009166 disease phenotype-associated
VAR_009166 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009167 commonName VAR_009167
VAR_009167 disease phenotype-associated
VAR_009167 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009168 commonName VAR_009168
VAR_009168 disease phenotype-associated
VAR_009168 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009169 commonName VAR_009169
VAR_009169 disease phenotype-associated
VAR_009169 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009170 commonName VAR_009170
VAR_009170 disease phenotype-associated
VAR_009170 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009172 commonName VAR_009172
VAR_009172 disease phenotype-associated
VAR_009172 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_009179 commonName VAR_009179
VAR_009179 disease phenotype-associated
VAR_009179 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009180 commonName VAR_009180
VAR_009180 disease phenotype-associated
VAR_009180 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009182 commonName VAR_009182
VAR_009182 disease phenotype-associated
VAR_009182 phenoCommon Incontinentia pigmenti (IP) [MIM:308300]
VAR_009183 commonName VAR_009183
VAR_009183 disease phenotype-associated
VAR_009183 phenoCommon Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]
VAR_009184 commonName VAR_009184
VAR_009184 disease phenotype-associated
VAR_009184 phenoCommon Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]
VAR_009185 commonName VAR_009185
VAR_009185 disease phenotype-associated
VAR_009185 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_009186 commonName VAR_009186
VAR_009186 disease phenotype-associated
VAR_009186 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_009187 commonName VAR_009187
VAR_009187 disease phenotype-associated
VAR_009187 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_009189 commonName VAR_009189
VAR_009189 disease phenotype-associated
VAR_009189 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_009190 commonName VAR_009190
VAR_009190 disease not phenotype-associated
VAR_009191 commonName VAR_009191
VAR_009191 disease not phenotype-associated
VAR_009192 commonName VAR_009192
VAR_009192 disease not phenotype-associated
VAR_009195 commonName VAR_009195
VAR_009195 disease phenotype-associated
VAR_009195 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_009196 commonName VAR_009196
VAR_009196 disease phenotype-associated
VAR_009196 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_009197 commonName VAR_009197
VAR_009197 disease phenotype-associated
VAR_009197 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_009202 commonName VAR_009202
VAR_009202 disease phenotype-associated
VAR_009202 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009203 commonName VAR_009203
VAR_009203 disease phenotype-associated
VAR_009203 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009204 commonName VAR_009204
VAR_009204 disease phenotype-associated
VAR_009204 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009205 commonName VAR_009205
VAR_009205 disease phenotype-associated
VAR_009205 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009206 commonName VAR_009206
VAR_009206 disease phenotype-associated
VAR_009206 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009207 commonName VAR_009207
VAR_009207 disease phenotype-associated
VAR_009207 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_009208 commonName VAR_009208
VAR_009208 disease phenotype-associated
VAR_009208 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009209 commonName VAR_009209
VAR_009209 disease phenotype-associated
VAR_009209 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009210 commonName VAR_009210
VAR_009210 disease phenotype-associated
VAR_009210 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009211 commonName VAR_009211
VAR_009211 disease phenotype-associated
VAR_009211 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009212 commonName VAR_009212
VAR_009212 disease phenotype-associated
VAR_009212 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009213 commonName VAR_009213
VAR_009213 disease phenotype-associated
VAR_009213 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_009214 commonName VAR_009214
VAR_009214 disease phenotype-associated
VAR_009214 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_009215 commonName VAR_009215
VAR_009215 disease phenotype-associated
VAR_009215 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889]
VAR_009217 commonName VAR_009217
VAR_009217 disease phenotype-associated
VAR_009217 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_009218 commonName VAR_009218
VAR_009218 disease phenotype-associated
VAR_009218 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_009219 commonName VAR_009219
VAR_009219 disease phenotype-associated
VAR_009219 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_009230 commonName VAR_009230
VAR_009230 disease not phenotype-associated
VAR_009231 commonName VAR_009231
VAR_009231 disease phenotype-associated
VAR_009231 phenoCommon Glycogen storage disease type 3 (GSD3) [MIM:232400]
VAR_009232 commonName VAR_009232
VAR_009232 disease phenotype-associated
VAR_009232 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_009233 commonName VAR_009233
VAR_009233 disease phenotype-associated
VAR_009233 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_009234 commonName VAR_009234
VAR_009234 disease phenotype-associated
VAR_009234 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_009235 commonName VAR_009235
VAR_009235 disease phenotype-associated
VAR_009235 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_009237 commonName VAR_009237
VAR_009237 disease phenotype-associated
VAR_009237 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_009238 commonName VAR_009238
VAR_009238 disease phenotype-associated
VAR_009238 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_009239 commonName VAR_009239
VAR_009239 disease phenotype-associated
VAR_009239 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_009240 commonName VAR_009240
VAR_009240 disease phenotype-associated
VAR_009240 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009241 commonName VAR_009241
VAR_009241 disease phenotype-associated
VAR_009241 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_009242 commonName VAR_009242
VAR_009242 disease phenotype-associated
VAR_009242 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009243 commonName VAR_009243
VAR_009243 disease phenotype-associated
VAR_009243 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009244 commonName VAR_009244
VAR_009244 disease phenotype-associated
VAR_009244 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009245 commonName VAR_009245
VAR_009245 disease phenotype-associated
VAR_009245 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009246 commonName VAR_009246
VAR_009246 disease phenotype-associated
VAR_009246 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009247 commonName VAR_009247
VAR_009247 disease phenotype-associated
VAR_009247 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009248 commonName VAR_009248
VAR_009248 disease phenotype-associated
VAR_009248 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009249 commonName VAR_009249
VAR_009249 disease phenotype-associated
VAR_009249 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_009250 commonName VAR_009250
VAR_009250 disease phenotype-associated
VAR_009250 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_009251 commonName VAR_009251
VAR_009251 disease phenotype-associated
VAR_009251 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_009252 commonName VAR_009252
VAR_009252 disease phenotype-associated
VAR_009252 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009253 commonName VAR_009253
VAR_009253 disease phenotype-associated
VAR_009253 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009254 commonName VAR_009254
VAR_009254 disease phenotype-associated
VAR_009254 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009255 commonName VAR_009255
VAR_009255 disease phenotype-associated
VAR_009255 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009256 commonName VAR_009256
VAR_009256 disease phenotype-associated
VAR_009256 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009257 commonName VAR_009257
VAR_009257 disease phenotype-associated
VAR_009257 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_009258 commonName VAR_009258
VAR_009258 disease phenotype-associated
VAR_009258 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_009259 commonName VAR_009259
VAR_009259 disease phenotype-associated
VAR_009259 phenoCommon Mental retardation X-linked type 58 (MRX58) [MIM:300210]
VAR_009260 commonName VAR_009260
VAR_009260 disease not phenotype-associated
VAR_009261 commonName VAR_009261
VAR_009261 disease not phenotype-associated
VAR_009262 commonName VAR_009262
VAR_009262 disease not phenotype-associated
VAR_009263 commonName VAR_009263
VAR_009263 disease not phenotype-associated
VAR_009264 commonName VAR_009264
VAR_009264 disease phenotype-associated
VAR_009264 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_009264 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
VAR_009266 commonName VAR_009266
VAR_009266 disease phenotype-associated
VAR_009266 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_009267 commonName VAR_009267
VAR_009267 disease phenotype-associated
VAR_009267 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_009268 commonName VAR_009268
VAR_009268 disease phenotype-associated
VAR_009268 phenoCommon Retinitis pigmentosa type 27 (RP27) [MIM:613750]
VAR_009270 commonName VAR_009270
VAR_009270 disease phenotype-associated
VAR_009270 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_009271 commonName VAR_009271
VAR_009271 disease phenotype-associated
VAR_009271 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_009272 commonName VAR_009272
VAR_009272 disease not phenotype-associated
VAR_009273 commonName VAR_009273
VAR_009273 disease phenotype-associated
VAR_009273 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_009275 commonName VAR_009275
VAR_009275 disease phenotype-associated
VAR_009275 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_009276 commonName VAR_009276
VAR_009276 disease phenotype-associated
VAR_009276 phenoCommon Retinol-binding protein deficiency (RBP deficiency) [MIM:180250]
VAR_009277 commonName VAR_009277
VAR_009277 disease phenotype-associated
VAR_009277 phenoCommon Retinol-binding protein deficiency (RBP deficiency) [MIM:180250]
VAR_009279 commonName VAR_009279
VAR_009279 disease phenotype-associated
VAR_009279 phenoCommon Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]
VAR_009280 commonName VAR_009280
VAR_009280 disease not phenotype-associated
VAR_009281 commonName VAR_009281
VAR_009281 disease not phenotype-associated
VAR_009282 commonName VAR_009282
VAR_009282 disease not phenotype-associated
VAR_009283 commonName VAR_009283
VAR_009283 disease phenotype-associated
VAR_009283 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009284 commonName VAR_009284
VAR_009284 disease not phenotype-associated
VAR_009285 commonName VAR_009285
VAR_009285 disease not phenotype-associated
VAR_009286 commonName VAR_009286
VAR_009286 disease phenotype-associated
VAR_009286 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009287 commonName VAR_009287
VAR_009287 disease phenotype-associated
VAR_009287 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009288 commonName VAR_009288
VAR_009288 disease not phenotype-associated
VAR_009289 commonName VAR_009289
VAR_009289 disease phenotype-associated
VAR_009289 phenoCommon Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]
VAR_009290 commonName VAR_009290
VAR_009290 disease phenotype-associated
VAR_009290 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009291 commonName VAR_009291
VAR_009291 disease phenotype-associated
VAR_009291 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009292 commonName VAR_009292
VAR_009292 disease phenotype-associated
VAR_009292 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009293 commonName VAR_009293
VAR_009293 disease phenotype-associated
VAR_009293 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_009294 commonName VAR_009294
VAR_009294 disease not phenotype-associated
VAR_009295 commonName VAR_009295
VAR_009295 disease not phenotype-associated
VAR_009296 commonName VAR_009296
VAR_009296 disease not phenotype-associated
VAR_009297 commonName VAR_009297
VAR_009297 disease phenotype-associated
VAR_009297 phenoCommon Retinitis pigmentosa type 49 (RP49) [MIM:613756]
VAR_009298 commonName VAR_009298
VAR_009298 disease phenotype-associated
VAR_009298 phenoCommon Blue cone monochromacy (BCM) [MIM:303700]
VAR_009299 commonName VAR_009299
VAR_009299 disease phenotype-associated
VAR_009299 phenoCommon Blue cone monochromacy (BCM) [MIM:303700]
VAR_009300 commonName VAR_009300
VAR_009300 disease not phenotype-associated
VAR_009301 commonName VAR_009301
VAR_009301 disease not phenotype-associated
VAR_009302 commonName VAR_009302
VAR_009302 disease not phenotype-associated
VAR_009303 commonName VAR_009303
VAR_009303 disease not phenotype-associated
VAR_009304 commonName VAR_009304
VAR_009304 disease phenotype-associated
VAR_009304 phenoCommon Zellweger syndrome (ZWS) [MIM:214100]
VAR_009305 commonName VAR_009305
VAR_009305 disease not phenotype-associated
VAR_009306 commonName VAR_009306
VAR_009306 disease phenotype-associated
VAR_009306 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_009307 commonName VAR_009307
VAR_009307 disease not phenotype-associated
VAR_009309 commonName VAR_009309
VAR_009309 disease phenotype-associated
VAR_009309 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]
VAR_009310 commonName VAR_009310
VAR_009310 disease phenotype-associated
VAR_009310 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]
VAR_009311 commonName VAR_009311
VAR_009312 commonName VAR_009312
VAR_009312 disease phenotype-associated
VAR_009312 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]
VAR_009314 commonName VAR_009314
VAR_009314 disease not phenotype-associated
VAR_009315 commonName VAR_009315
VAR_009315 disease phenotype-associated
VAR_009315 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009316 commonName VAR_009316
VAR_009316 disease phenotype-associated
VAR_009316 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009317 commonName VAR_009317
VAR_009317 disease not phenotype-associated
VAR_009318 commonName VAR_009318
VAR_009318 disease phenotype-associated
VAR_009318 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009319 commonName VAR_009319
VAR_009319 disease phenotype-associated
VAR_009319 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009320 commonName VAR_009320
VAR_009320 disease phenotype-associated
VAR_009320 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009322 commonName VAR_009322
VAR_009322 disease phenotype-associated
VAR_009322 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009323 commonName VAR_009323
VAR_009323 disease phenotype-associated
VAR_009323 phenoCommon Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]
VAR_009324 commonName VAR_009324
VAR_009325 commonName VAR_009325
VAR_009325 disease phenotype-associated
VAR_009325 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009326 commonName VAR_009326
VAR_009326 disease phenotype-associated
VAR_009326 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009328 commonName VAR_009328
VAR_009328 disease phenotype-associated
VAR_009328 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009329 commonName VAR_009329
VAR_009329 disease not phenotype-associated
VAR_009330 commonName VAR_009330
VAR_009330 disease phenotype-associated
VAR_009330 phenoCommon Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]
VAR_009331 commonName VAR_009331
VAR_009331 disease phenotype-associated
VAR_009331 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009332 commonName VAR_009332
VAR_009332 disease phenotype-associated
VAR_009332 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009334 commonName VAR_009334
VAR_009334 disease phenotype-associated
VAR_009334 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009335 commonName VAR_009335
VAR_009335 disease phenotype-associated
VAR_009335 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009336 commonName VAR_009336
VAR_009336 disease phenotype-associated
VAR_009336 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009337 commonName VAR_009337
VAR_009337 disease phenotype-associated
VAR_009337 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009338 commonName VAR_009338
VAR_009338 disease phenotype-associated
VAR_009338 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009339 commonName VAR_009339
VAR_009339 disease phenotype-associated
VAR_009339 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009340 commonName VAR_009340
VAR_009340 disease phenotype-associated
VAR_009340 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009341 commonName VAR_009341
VAR_009341 disease phenotype-associated
VAR_009341 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009343 commonName VAR_009343
VAR_009343 disease not phenotype-associated
VAR_009344 commonName VAR_009344
VAR_009345 commonName VAR_009345
VAR_009345 disease not phenotype-associated
VAR_009346 commonName VAR_009346
VAR_009346 disease not phenotype-associated
VAR_009347 commonName VAR_009347
VAR_009347 disease phenotype-associated
VAR_009347 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009348 commonName VAR_009348
VAR_009348 disease phenotype-associated
VAR_009348 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_009349 commonName VAR_009349
VAR_009349 disease phenotype-associated
VAR_009349 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009350 commonName VAR_009350
VAR_009350 disease phenotype-associated
VAR_009350 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009351 commonName VAR_009351
VAR_009351 disease phenotype-associated
VAR_009351 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009352 commonName VAR_009352
VAR_009352 disease phenotype-associated
VAR_009352 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009353 commonName VAR_009353
VAR_009353 disease phenotype-associated
VAR_009353 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009354 commonName VAR_009354
VAR_009354 disease phenotype-associated
VAR_009354 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009355 commonName VAR_009355
VAR_009355 disease phenotype-associated
VAR_009355 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009356 commonName VAR_009356
VAR_009356 disease phenotype-associated
VAR_009356 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009357 commonName VAR_009357
VAR_009357 disease phenotype-associated
VAR_009357 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009358 commonName VAR_009358
VAR_009358 disease phenotype-associated
VAR_009358 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009359 commonName VAR_009359
VAR_009359 disease phenotype-associated
VAR_009359 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009360 commonName VAR_009360
VAR_009360 disease phenotype-associated
VAR_009360 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009361 commonName VAR_009361
VAR_009361 disease phenotype-associated
VAR_009361 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009362 commonName VAR_009362
VAR_009362 disease phenotype-associated
VAR_009362 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009363 commonName VAR_009363
VAR_009363 disease phenotype-associated
VAR_009363 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009364 commonName VAR_009364
VAR_009364 disease phenotype-associated
VAR_009364 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009365 commonName VAR_009365
VAR_009365 disease phenotype-associated
VAR_009365 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009366 commonName VAR_009366
VAR_009366 disease phenotype-associated
VAR_009366 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009367 commonName VAR_009367
VAR_009367 disease phenotype-associated
VAR_009367 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009368 commonName VAR_009368
VAR_009368 disease phenotype-associated
VAR_009368 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009369 commonName VAR_009369
VAR_009369 disease phenotype-associated
VAR_009369 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009370 commonName VAR_009370
VAR_009370 disease phenotype-associated
VAR_009370 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009371 commonName VAR_009371
VAR_009371 disease phenotype-associated
VAR_009371 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009372 commonName VAR_009372
VAR_009372 disease phenotype-associated
VAR_009372 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009373 commonName VAR_009373
VAR_009373 disease phenotype-associated
VAR_009373 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009374 commonName VAR_009374
VAR_009374 disease phenotype-associated
VAR_009374 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009375 commonName VAR_009375
VAR_009375 disease phenotype-associated
VAR_009375 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009376 commonName VAR_009376
VAR_009376 disease phenotype-associated
VAR_009376 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009377 commonName VAR_009377
VAR_009377 disease phenotype-associated
VAR_009377 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009378 commonName VAR_009378
VAR_009378 disease phenotype-associated
VAR_009378 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009379 commonName VAR_009379
VAR_009379 disease phenotype-associated
VAR_009379 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009380 commonName VAR_009380
VAR_009380 disease phenotype-associated
VAR_009380 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009381 commonName VAR_009381
VAR_009381 disease phenotype-associated
VAR_009381 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009382 commonName VAR_009382
VAR_009382 disease phenotype-associated
VAR_009382 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009383 commonName VAR_009383
VAR_009383 disease phenotype-associated
VAR_009383 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009384 commonName VAR_009384
VAR_009384 disease phenotype-associated
VAR_009384 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009385 commonName VAR_009385
VAR_009385 disease phenotype-associated
VAR_009385 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009386 commonName VAR_009386
VAR_009386 disease phenotype-associated
VAR_009386 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009387 commonName VAR_009387
VAR_009387 disease phenotype-associated
VAR_009387 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009388 commonName VAR_009388
VAR_009388 disease phenotype-associated
VAR_009388 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009389 commonName VAR_009389
VAR_009389 disease phenotype-associated
VAR_009389 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009390 commonName VAR_009390
VAR_009390 disease phenotype-associated
VAR_009390 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009391 commonName VAR_009391
VAR_009391 disease phenotype-associated
VAR_009391 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009392 commonName VAR_009392
VAR_009392 disease phenotype-associated
VAR_009392 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009393 commonName VAR_009393
VAR_009393 disease phenotype-associated
VAR_009393 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_009394 commonName VAR_009394
VAR_009394 disease not phenotype-associated
VAR_009395 commonName VAR_009395
VAR_009395 disease not phenotype-associated
VAR_009397 commonName VAR_009397
VAR_009398 commonName VAR_009398
VAR_009398 disease not phenotype-associated
VAR_009399 commonName VAR_009399
VAR_009401 commonName VAR_009401
VAR_009402 commonName VAR_009402
VAR_009402 disease not phenotype-associated
VAR_009403 commonName VAR_009403
VAR_009404 commonName VAR_009404
VAR_009404 disease not phenotype-associated
VAR_009406 commonName VAR_009406
VAR_009406 disease not phenotype-associated
VAR_009407 commonName VAR_009407
VAR_009407 disease phenotype-associated
VAR_009407 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100]
VAR_009408 commonName VAR_009408
VAR_009408 disease phenotype-associated
VAR_009408 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100]
VAR_009409 commonName VAR_009409
VAR_009410 commonName VAR_009410
VAR_009410 disease not phenotype-associated
VAR_009411 commonName VAR_009411
VAR_009411 disease not phenotype-associated
VAR_009412 commonName VAR_009412
VAR_009412 disease phenotype-associated
VAR_009412 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100]
VAR_009413 commonName VAR_009413
VAR_009413 disease not phenotype-associated
VAR_009414 commonName VAR_009414
VAR_009414 disease not phenotype-associated
VAR_009415 commonName VAR_009415
VAR_009416 commonName VAR_009416
VAR_009416 disease not phenotype-associated
VAR_009417 commonName VAR_009417
VAR_009417 disease phenotype-associated
VAR_009417 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009418 commonName VAR_009418
VAR_009418 disease phenotype-associated
VAR_009418 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009419 commonName VAR_009419
VAR_009419 disease not phenotype-associated
VAR_009420 commonName VAR_009420
VAR_009420 disease not phenotype-associated
VAR_009421 commonName VAR_009421
VAR_009421 disease not phenotype-associated
VAR_009422 commonName VAR_009422
VAR_009422 disease phenotype-associated
VAR_009422 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009424 commonName VAR_009424
VAR_009424 disease not phenotype-associated
VAR_009425 commonName VAR_009425
VAR_009425 disease not phenotype-associated
VAR_009426 commonName VAR_009426
VAR_009426 disease phenotype-associated
VAR_009426 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009428 commonName VAR_009428
VAR_009428 disease not phenotype-associated
VAR_009429 commonName VAR_009429
VAR_009429 disease not phenotype-associated
VAR_009430 commonName VAR_009430
VAR_009430 disease not phenotype-associated
VAR_009431 commonName VAR_009431
VAR_009431 disease not phenotype-associated
VAR_009432 commonName VAR_009432
VAR_009432 disease phenotype-associated
VAR_009432 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009433 commonName VAR_009433
VAR_009433 disease not phenotype-associated
VAR_009434 commonName VAR_009434
VAR_009434 disease not phenotype-associated
VAR_009435 commonName VAR_009435
VAR_009435 disease phenotype-associated
VAR_009435 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009436 commonName VAR_009436
VAR_009436 disease phenotype-associated
VAR_009436 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009437 commonName VAR_009437
VAR_009439 commonName VAR_009439
VAR_009439 disease phenotype-associated
VAR_009439 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009440 commonName VAR_009440
VAR_009440 disease phenotype-associated
VAR_009440 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009441 commonName VAR_009441
VAR_009442 commonName VAR_009442
VAR_009442 disease phenotype-associated
VAR_009442 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009443 commonName VAR_009443
VAR_009444 commonName VAR_009444
VAR_009444 disease not phenotype-associated
VAR_009445 commonName VAR_009445
VAR_009445 disease phenotype-associated
VAR_009445 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009446 commonName VAR_009446
VAR_009446 disease phenotype-associated
VAR_009446 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009447 commonName VAR_009447
VAR_009448 commonName VAR_009448
VAR_009448 disease phenotype-associated
VAR_009448 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009449 commonName VAR_009449
VAR_009449 disease phenotype-associated
VAR_009449 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009450 commonName VAR_009450
VAR_009450 disease phenotype-associated
VAR_009450 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009451 commonName VAR_009451
VAR_009451 disease phenotype-associated
VAR_009451 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009452 commonName VAR_009452
VAR_009452 disease phenotype-associated
VAR_009452 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009453 commonName VAR_009453
VAR_009453 disease phenotype-associated
VAR_009453 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009454 commonName VAR_009454
VAR_009454 disease phenotype-associated
VAR_009454 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009455 commonName VAR_009455
VAR_009455 disease phenotype-associated
VAR_009455 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_009457 commonName VAR_009457
VAR_009457 disease not phenotype-associated
VAR_009458 commonName VAR_009458
VAR_009458 disease not phenotype-associated
VAR_009459 commonName VAR_009459
VAR_009459 disease phenotype-associated
VAR_009459 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009460 commonName VAR_009460
VAR_009460 disease phenotype-associated
VAR_009460 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009461 commonName VAR_009461
VAR_009462 commonName VAR_009462
VAR_009462 disease phenotype-associated
VAR_009462 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009463 commonName VAR_009463
VAR_009463 disease phenotype-associated
VAR_009463 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009464 commonName VAR_009464
VAR_009464 disease phenotype-associated
VAR_009464 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009465 commonName VAR_009465
VAR_009465 disease phenotype-associated
VAR_009465 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009466 commonName VAR_009466
VAR_009467 commonName VAR_009467
VAR_009467 disease phenotype-associated
VAR_009467 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009468 commonName VAR_009468
VAR_009468 disease phenotype-associated
VAR_009468 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009470 commonName VAR_009470
VAR_009470 disease phenotype-associated
VAR_009470 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009471 commonName VAR_009471
VAR_009471 disease phenotype-associated
VAR_009471 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009472 commonName VAR_009472
VAR_009472 disease phenotype-associated
VAR_009472 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009473 commonName VAR_009473
VAR_009473 disease phenotype-associated
VAR_009473 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009474 commonName VAR_009474
VAR_009474 disease phenotype-associated
VAR_009474 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009475 commonName VAR_009475
VAR_009475 disease phenotype-associated
VAR_009475 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009475 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009476 commonName VAR_009476
VAR_009476 disease phenotype-associated
VAR_009476 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009477 commonName VAR_009477
VAR_009477 disease phenotype-associated
VAR_009477 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009478 commonName VAR_009478
VAR_009478 disease phenotype-associated
VAR_009478 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009480 commonName VAR_009480
VAR_009480 disease phenotype-associated
VAR_009480 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009481 commonName VAR_009481
VAR_009481 disease phenotype-associated
VAR_009481 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009482 commonName VAR_009482
VAR_009482 disease phenotype-associated
VAR_009482 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009482 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009483 commonName VAR_009483
VAR_009483 disease phenotype-associated
VAR_009483 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009483 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009483 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400]
VAR_009483 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_009484 commonName VAR_009484
VAR_009484 disease phenotype-associated
VAR_009484 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009485 commonName VAR_009485
VAR_009485 disease phenotype-associated
VAR_009485 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300]
VAR_009486 commonName VAR_009486
VAR_009486 disease phenotype-associated
VAR_009486 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_009487 commonName VAR_009487
VAR_009487 disease not phenotype-associated
VAR_009488 commonName VAR_009488
VAR_009488 disease not phenotype-associated
VAR_009490 commonName VAR_009490
VAR_009490 disease phenotype-associated
VAR_009490 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009491 commonName VAR_009491
VAR_009491 disease phenotype-associated
VAR_009491 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009492 commonName VAR_009492
VAR_009492 disease phenotype-associated
VAR_009492 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009493 commonName VAR_009493
VAR_009493 disease phenotype-associated
VAR_009493 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_009494 commonName VAR_009494
VAR_009495 commonName VAR_009495
VAR_009496 commonName VAR_009496
VAR_009497 commonName VAR_009497
VAR_009497 disease phenotype-associated
VAR_009497 phenoCommon Hirschsprung disease type 3 (HSCR3) [MIM:613711]
VAR_009498 commonName VAR_009498
VAR_009499 commonName VAR_009499
VAR_009501 commonName VAR_009501
VAR_009501 disease not phenotype-associated
VAR_009502 commonName VAR_009502
VAR_009503 commonName VAR_009503
VAR_009503 disease not phenotype-associated
VAR_009504 commonName VAR_009504
VAR_009504 disease phenotype-associated
VAR_009504 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_009504 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_009504 phenoCommon Transient familial neonatal hyperbilirubinemia (TNHBB) [MIM:237900]
VAR_009505 commonName VAR_009505
VAR_009505 disease phenotype-associated
VAR_009505 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_009505 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_009506 commonName VAR_009506
VAR_009506 disease phenotype-associated
VAR_009506 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_009507 commonName VAR_009507
VAR_009507 disease phenotype-associated
VAR_009507 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_009508 commonName VAR_009508
VAR_009508 disease phenotype-associated
VAR_009508 phenoCommon Darier disease (DD) [MIM:124200]
VAR_009509 commonName VAR_009509
VAR_009509 disease phenotype-associated
VAR_009509 phenoCommon Darier disease (DD) [MIM:124200]
VAR_009510 commonName VAR_009510
VAR_009510 disease not phenotype-associated
VAR_009512 commonName VAR_009512
VAR_009512 disease not phenotype-associated
VAR_009513 commonName VAR_009513
VAR_009513 disease phenotype-associated
VAR_009513 phenoCommon Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]
VAR_009514 commonName VAR_009514
VAR_009514 disease not phenotype-associated
VAR_009515 commonName VAR_009515
VAR_009515 disease not phenotype-associated
VAR_009517 commonName VAR_009517
VAR_009517 disease phenotype-associated
VAR_009517 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027]
VAR_009518 commonName VAR_009518
VAR_009518 disease phenotype-associated
VAR_009518 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027]
VAR_009519 commonName VAR_009519
VAR_009519 disease not phenotype-associated
VAR_009520 commonName VAR_009520
VAR_009520 disease not phenotype-associated
VAR_009521 commonName VAR_009521
VAR_009521 disease not phenotype-associated
VAR_009522 commonName VAR_009522
VAR_009522 disease not phenotype-associated
VAR_009523 commonName VAR_009523
VAR_009523 disease not phenotype-associated
VAR_009524 commonName VAR_009524
VAR_009524 disease not phenotype-associated
VAR_009525 commonName VAR_009525
VAR_009525 disease not phenotype-associated
VAR_009526 commonName VAR_009526
VAR_009526 disease not phenotype-associated
VAR_009527 commonName VAR_009527
VAR_009527 disease not phenotype-associated
VAR_009528 commonName VAR_009528
VAR_009528 disease not phenotype-associated
VAR_009529 commonName VAR_009529
VAR_009529 disease not phenotype-associated
VAR_009530 commonName VAR_009530
VAR_009530 disease phenotype-associated
VAR_009530 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009531 commonName VAR_009531
VAR_009531 disease phenotype-associated
VAR_009531 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009532 commonName VAR_009532
VAR_009532 disease phenotype-associated
VAR_009532 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009533 commonName VAR_009533
VAR_009533 disease phenotype-associated
VAR_009533 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009534 commonName VAR_009534
VAR_009534 disease phenotype-associated
VAR_009534 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009535 commonName VAR_009535
VAR_009535 disease phenotype-associated
VAR_009535 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009536 commonName VAR_009536
VAR_009536 disease phenotype-associated
VAR_009536 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009537 commonName VAR_009537
VAR_009537 disease phenotype-associated
VAR_009537 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
VAR_009538 commonName VAR_009538
VAR_009538 disease phenotype-associated
VAR_009538 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800]
VAR_009539 commonName VAR_009539
VAR_009539 disease phenotype-associated
VAR_009539 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800]
VAR_009540 commonName VAR_009540
VAR_009540 disease phenotype-associated
VAR_009540 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800]
VAR_009541 commonName VAR_009541
VAR_009541 disease phenotype-associated
VAR_009541 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_009542 commonName VAR_009542
VAR_009542 disease phenotype-associated
VAR_009542 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_009543 commonName VAR_009543
VAR_009543 disease phenotype-associated
VAR_009543 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_009544 commonName VAR_009544
VAR_009544 disease phenotype-associated
VAR_009544 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_009547 commonName VAR_009547
VAR_009547 disease not phenotype-associated
VAR_009548 commonName VAR_009548
VAR_009548 disease phenotype-associated
VAR_009548 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009549 commonName VAR_009549
VAR_009549 disease phenotype-associated
VAR_009549 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009550 commonName VAR_009550
VAR_009550 disease phenotype-associated
VAR_009550 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009551 commonName VAR_009551
VAR_009551 disease phenotype-associated
VAR_009551 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009553 commonName VAR_009553
VAR_009553 disease not phenotype-associated
VAR_009554 commonName VAR_009554
VAR_009554 disease phenotype-associated
VAR_009554 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009555 commonName VAR_009555
VAR_009555 disease phenotype-associated
VAR_009555 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009556 commonName VAR_009556
VAR_009556 disease phenotype-associated
VAR_009556 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009557 commonName VAR_009557
VAR_009557 disease phenotype-associated
VAR_009557 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009558 commonName VAR_009558
VAR_009558 disease phenotype-associated
VAR_009558 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009559 commonName VAR_009559
VAR_009559 disease phenotype-associated
VAR_009559 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009560 commonName VAR_009560
VAR_009560 disease phenotype-associated
VAR_009560 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009561 commonName VAR_009561
VAR_009561 disease phenotype-associated
VAR_009561 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009563 commonName VAR_009563
VAR_009563 disease phenotype-associated
VAR_009563 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009564 commonName VAR_009564
VAR_009564 disease phenotype-associated
VAR_009564 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009565 commonName VAR_009565
VAR_009565 disease phenotype-associated
VAR_009565 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009566 commonName VAR_009566
VAR_009566 disease phenotype-associated
VAR_009566 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009567 commonName VAR_009567
VAR_009567 disease not phenotype-associated
VAR_009569 commonName VAR_009569
VAR_009569 disease phenotype-associated
VAR_009569 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009570 commonName VAR_009570
VAR_009570 disease phenotype-associated
VAR_009570 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009571 commonName VAR_009571
VAR_009571 disease phenotype-associated
VAR_009571 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009572 commonName VAR_009572
VAR_009572 disease phenotype-associated
VAR_009572 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009573 commonName VAR_009573
VAR_009573 disease phenotype-associated
VAR_009573 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009574 commonName VAR_009574
VAR_009574 disease phenotype-associated
VAR_009574 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009575 commonName VAR_009575
VAR_009575 disease phenotype-associated
VAR_009575 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009576 commonName VAR_009576
VAR_009576 disease phenotype-associated
VAR_009576 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009577 commonName VAR_009577
VAR_009577 disease phenotype-associated
VAR_009577 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009578 commonName VAR_009578
VAR_009578 disease phenotype-associated
VAR_009578 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009579 commonName VAR_009579
VAR_009579 disease phenotype-associated
VAR_009579 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009580 commonName VAR_009580
VAR_009580 disease phenotype-associated
VAR_009580 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009581 commonName VAR_009581
VAR_009581 disease phenotype-associated
VAR_009581 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009582 commonName VAR_009582
VAR_009582 disease phenotype-associated
VAR_009582 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009583 commonName VAR_009583
VAR_009583 disease phenotype-associated
VAR_009583 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009584 commonName VAR_009584
VAR_009584 disease phenotype-associated
VAR_009584 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009585 commonName VAR_009585
VAR_009585 disease phenotype-associated
VAR_009585 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009586 commonName VAR_009586
VAR_009586 disease phenotype-associated
VAR_009586 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009587 commonName VAR_009587
VAR_009587 disease phenotype-associated
VAR_009587 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009588 commonName VAR_009588
VAR_009588 disease phenotype-associated
VAR_009588 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009589 commonName VAR_009589
VAR_009589 disease phenotype-associated
VAR_009589 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009590 commonName VAR_009590
VAR_009590 disease phenotype-associated
VAR_009590 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009591 commonName VAR_009591
VAR_009591 disease phenotype-associated
VAR_009591 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009592 commonName VAR_009592
VAR_009592 disease phenotype-associated
VAR_009592 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009593 commonName VAR_009593
VAR_009593 disease phenotype-associated
VAR_009593 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009594 commonName VAR_009594
VAR_009594 disease phenotype-associated
VAR_009594 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009595 commonName VAR_009595
VAR_009595 disease phenotype-associated
VAR_009595 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009596 commonName VAR_009596
VAR_009596 disease phenotype-associated
VAR_009596 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009597 commonName VAR_009597
VAR_009597 disease phenotype-associated
VAR_009597 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009598 commonName VAR_009598
VAR_009598 disease phenotype-associated
VAR_009598 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009599 commonName VAR_009599
VAR_009599 disease phenotype-associated
VAR_009599 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009600 commonName VAR_009600
VAR_009600 disease phenotype-associated
VAR_009600 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
VAR_009601 commonName VAR_009601
VAR_009601 disease phenotype-associated
VAR_009601 phenoCommon Ulnar-mammary syndrome (UMS) [MIM:181450]
VAR_009602 commonName VAR_009602
VAR_009602 disease phenotype-associated
VAR_009602 phenoCommon Ulnar-mammary syndrome (UMS) [MIM:181450]
VAR_009603 commonName VAR_009603
VAR_009603 disease phenotype-associated
VAR_009603 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_009604 commonName VAR_009604
VAR_009604 disease not phenotype-associated
VAR_009605 commonName VAR_009605
VAR_009605 disease phenotype-associated
VAR_009605 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_009606 commonName VAR_009606
VAR_009606 disease phenotype-associated
VAR_009606 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_009613 commonName VAR_009613
VAR_009613 disease phenotype-associated
VAR_009613 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_009614 commonName VAR_009614
VAR_009614 disease phenotype-associated
VAR_009614 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_009615 commonName VAR_009615
VAR_009616 commonName VAR_009616
VAR_009616 disease phenotype-associated
VAR_009616 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100]
VAR_009617 commonName VAR_009617
VAR_009617 disease not phenotype-associated
VAR_009618 commonName VAR_009618
VAR_009618 disease phenotype-associated
VAR_009618 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_009619 commonName VAR_009619
VAR_009619 disease phenotype-associated
VAR_009619 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_009620 commonName VAR_009620
VAR_009620 disease phenotype-associated
VAR_009620 phenoCommon Alkaptonuria (AKU) [MIM:203500]
VAR_009621 commonName VAR_009621
VAR_009621 disease not phenotype-associated
VAR_009622 commonName VAR_009622
VAR_009622 disease not phenotype-associated
VAR_009623 commonName VAR_009623
VAR_009623 disease not phenotype-associated
VAR_009624 commonName VAR_009624
VAR_009624 disease phenotype-associated
VAR_009624 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009625 commonName VAR_009625
VAR_009625 disease phenotype-associated
VAR_009625 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009626 commonName VAR_009626
VAR_009626 disease phenotype-associated
VAR_009626 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009627 commonName VAR_009627
VAR_009627 disease phenotype-associated
VAR_009627 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009628 commonName VAR_009628
VAR_009628 disease not phenotype-associated
VAR_009629 commonName VAR_009629
VAR_009629 disease not phenotype-associated
VAR_009630 commonName VAR_009630
VAR_009630 disease phenotype-associated
VAR_009630 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009631 commonName VAR_009631
VAR_009631 disease phenotype-associated
VAR_009631 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009632 commonName VAR_009632
VAR_009633 commonName VAR_009633
VAR_009633 disease phenotype-associated
VAR_009633 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009634 commonName VAR_009634
VAR_009634 disease phenotype-associated
VAR_009634 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009635 commonName VAR_009635
VAR_009635 disease phenotype-associated
VAR_009635 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_009636 commonName VAR_009636
VAR_009636 disease not phenotype-associated
VAR_009637 commonName VAR_009637
VAR_009637 disease not phenotype-associated
VAR_009638 commonName VAR_009638
VAR_009639 commonName VAR_009639
VAR_009639 disease phenotype-associated
VAR_009639 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009640 commonName VAR_009640
VAR_009640 disease phenotype-associated
VAR_009640 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009641 commonName VAR_009641
VAR_009641 disease phenotype-associated
VAR_009641 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009642 commonName VAR_009642
VAR_009642 disease phenotype-associated
VAR_009642 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009643 commonName VAR_009643
VAR_009643 disease phenotype-associated
VAR_009643 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009644 commonName VAR_009644
VAR_009644 disease not phenotype-associated
VAR_009645 commonName VAR_009645
VAR_009645 disease not phenotype-associated
VAR_009646 commonName VAR_009646
VAR_009646 disease not phenotype-associated
VAR_009647 commonName VAR_009647
VAR_009647 disease phenotype-associated
VAR_009647 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009648 commonName VAR_009648
VAR_009648 disease phenotype-associated
VAR_009648 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009649 commonName VAR_009649
VAR_009649 disease phenotype-associated
VAR_009649 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009650 commonName VAR_009650
VAR_009650 disease phenotype-associated
VAR_009650 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009651 commonName VAR_009651
VAR_009651 disease phenotype-associated
VAR_009651 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009652 commonName VAR_009652
VAR_009652 disease phenotype-associated
VAR_009652 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009653 commonName VAR_009653
VAR_009653 disease phenotype-associated
VAR_009653 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009655 commonName VAR_009655
VAR_009655 disease not phenotype-associated
VAR_009656 commonName VAR_009656
VAR_009656 disease phenotype-associated
VAR_009656 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009657 commonName VAR_009657
VAR_009657 disease not phenotype-associated
VAR_009658 commonName VAR_009658
VAR_009658 disease phenotype-associated
VAR_009658 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_009659 commonName VAR_009659
VAR_009659 disease phenotype-associated
VAR_009659 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
VAR_009660 commonName VAR_009660
VAR_009660 disease phenotype-associated
VAR_009660 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_009661 commonName VAR_009661
VAR_009661 disease phenotype-associated
VAR_009661 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]
VAR_009662 commonName VAR_009662
VAR_009662 disease phenotype-associated
VAR_009662 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_009663 commonName VAR_009663
VAR_009663 disease not phenotype-associated
VAR_009664 commonName VAR_009664
VAR_009664 disease phenotype-associated
VAR_009664 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_009665 commonName VAR_009665
VAR_009665 disease not phenotype-associated
VAR_009666 commonName VAR_009666
VAR_009666 disease not phenotype-associated
VAR_009667 commonName VAR_009667
VAR_009667 disease not phenotype-associated
VAR_009668 commonName VAR_009668
VAR_009668 disease not phenotype-associated
VAR_009669 commonName VAR_009669
VAR_009669 disease not phenotype-associated
VAR_009670 commonName VAR_009670
VAR_009670 disease not phenotype-associated
VAR_009671 commonName VAR_009671
VAR_009671 disease phenotype-associated
VAR_009671 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009672 commonName VAR_009672
VAR_009672 disease not phenotype-associated
VAR_009673 commonName VAR_009673
VAR_009673 disease not phenotype-associated
VAR_009674 commonName VAR_009674
VAR_009674 disease not phenotype-associated
VAR_009675 commonName VAR_009675
VAR_009675 disease phenotype-associated
VAR_009675 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009676 commonName VAR_009676
VAR_009676 disease phenotype-associated
VAR_009676 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009677 commonName VAR_009677
VAR_009677 disease not phenotype-associated
VAR_009678 commonName VAR_009678
VAR_009679 commonName VAR_009679
VAR_009680 commonName VAR_009680
VAR_009680 disease phenotype-associated
VAR_009680 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009681 commonName VAR_009681
VAR_009681 disease phenotype-associated
VAR_009681 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009682 commonName VAR_009682
VAR_009682 disease phenotype-associated
VAR_009682 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009683 commonName VAR_009683
VAR_009683 disease phenotype-associated
VAR_009683 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009684 commonName VAR_009684
VAR_009684 disease phenotype-associated
VAR_009684 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009685 commonName VAR_009685
VAR_009685 disease not phenotype-associated
VAR_009686 commonName VAR_009686
VAR_009686 disease not phenotype-associated
VAR_009687 commonName VAR_009687
VAR_009687 disease not phenotype-associated
VAR_009688 commonName VAR_009688
VAR_009688 disease phenotype-associated
VAR_009688 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009689 commonName VAR_009689
VAR_009689 disease phenotype-associated
VAR_009689 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009690 commonName VAR_009690
VAR_009690 disease not phenotype-associated
VAR_009691 commonName VAR_009691
VAR_009691 disease phenotype-associated
VAR_009691 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009692 commonName VAR_009692
VAR_009692 disease phenotype-associated
VAR_009692 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009693 commonName VAR_009693
VAR_009693 disease phenotype-associated
VAR_009693 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009694 commonName VAR_009694
VAR_009694 disease not phenotype-associated
VAR_009695 commonName VAR_009695
VAR_009695 disease phenotype-associated
VAR_009695 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009696 commonName VAR_009696
VAR_009696 disease phenotype-associated
VAR_009696 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009697 commonName VAR_009697
VAR_009697 disease phenotype-associated
VAR_009697 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009698 commonName VAR_009698
VAR_009698 disease not phenotype-associated
VAR_009699 commonName VAR_009699
VAR_009699 disease not phenotype-associated
VAR_009700 commonName VAR_009700
VAR_009700 disease phenotype-associated
VAR_009700 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_009701 commonName VAR_009701
VAR_009701 disease phenotype-associated
VAR_009701 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900]
VAR_009702 commonName VAR_009702
VAR_009702 disease phenotype-associated
VAR_009702 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900]
VAR_009703 commonName VAR_009703
VAR_009703 disease phenotype-associated
VAR_009703 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]
VAR_009704 commonName VAR_009704
VAR_009704 disease not phenotype-associated
VAR_009705 commonName VAR_009705
VAR_009705 disease not phenotype-associated
VAR_009706 commonName VAR_009706
VAR_009706 disease not phenotype-associated
VAR_009707 commonName VAR_009707
VAR_009707 disease not phenotype-associated
VAR_009708 commonName VAR_009708
VAR_009709 commonName VAR_009709
VAR_009709 disease not phenotype-associated
VAR_009710 commonName VAR_009710
VAR_009710 disease not phenotype-associated
VAR_009864 commonName VAR_009864
VAR_009864 disease phenotype-associated
VAR_009864 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_009864 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700]
VAR_009865 commonName VAR_009865
VAR_009865 disease not phenotype-associated
VAR_009866 commonName VAR_009866
VAR_009866 disease phenotype-associated
VAR_009866 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700]
VAR_009867 commonName VAR_009867
VAR_009867 disease phenotype-associated
VAR_009867 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_009867 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700]
VAR_009868 commonName VAR_009868
VAR_009868 disease not phenotype-associated
VAR_009869 commonName VAR_009869
VAR_009869 disease not phenotype-associated
VAR_009871 comment An hepatocellular carcinoma
VAR_009871 commonName VAR_009871
VAR_009873 commonName VAR_009873
VAR_009874 commonName VAR_009874
VAR_009874 disease phenotype-associated
VAR_009874 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_009874 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_009875 commonName VAR_009875
VAR_009875 disease phenotype-associated
VAR_009875 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_009876 commonName VAR_009876
VAR_009876 disease phenotype-associated
VAR_009876 phenoCommon Polydactyly postaxial type A1 (PAPA1) [MIM:174200]
VAR_009876 phenoCommon Polydactyly postaxial type B polydactyly (PAPB) [MIM:174200]
VAR_009877 commonName VAR_009877
VAR_009877 disease not phenotype-associated
VAR_009878 commonName VAR_009878
VAR_009878 disease phenotype-associated
VAR_009878 phenoCommon Hexokinase deficiency (HK deficiency) [MIM:235700]
VAR_009879 commonName VAR_009879
VAR_009879 disease not phenotype-associated
VAR_009880 commonName VAR_009880
VAR_009880 disease not phenotype-associated
VAR_009881 commonName VAR_009881
VAR_009881 disease phenotype-associated
VAR_009881 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_009882 commonName VAR_009882
VAR_009882 disease phenotype-associated
VAR_009882 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_009883 commonName VAR_009883
VAR_009883 disease phenotype-associated
VAR_009883 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_009884 commonName VAR_009884
VAR_009884 disease phenotype-associated
VAR_009884 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_009885 commonName VAR_009885
VAR_009885 disease phenotype-associated
HbVar.675 commonName Hb A2-Troodos
VAR_009885 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_009886 commonName VAR_009886
VAR_009886 disease phenotype-associated
VAR_009886 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_009887 commonName VAR_009887
VAR_009887 disease phenotype-associated
VAR_009887 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_009888 commonName VAR_009888
VAR_009888 disease phenotype-associated
VAR_009888 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_009889 commonName VAR_009889
VAR_009889 disease not phenotype-associated
VAR_009890 commonName VAR_009890
VAR_009890 disease not phenotype-associated
VAR_009891 commonName VAR_009891
VAR_009891 disease not phenotype-associated
VAR_009892 commonName VAR_009892
VAR_009892 disease not phenotype-associated
VAR_009894 commonName VAR_009894
VAR_009894 disease not phenotype-associated
VAR_009895 commonName VAR_009895
VAR_009895 disease not phenotype-associated
VAR_009896 commonName VAR_009896
VAR_009896 disease not phenotype-associated
VAR_009897 commonName VAR_009897
VAR_009897 disease not phenotype-associated
VAR_009898 commonName VAR_009898
VAR_009898 disease not phenotype-associated
VAR_009899 commonName VAR_009899
VAR_009899 disease not phenotype-associated
VAR_009900 commonName VAR_009900
VAR_009900 disease not phenotype-associated
VAR_009901 commonName VAR_009901
VAR_009901 disease not phenotype-associated
VAR_009902 commonName VAR_009902
VAR_009902 disease not phenotype-associated
VAR_009906 commonName VAR_009906
VAR_009907 commonName VAR_009907
VAR_009907 disease phenotype-associated
VAR_009907 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_009908 commonName VAR_009908
VAR_009908 disease phenotype-associated
VAR_009908 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_009909 commonName VAR_009909
VAR_009909 disease phenotype-associated
VAR_009909 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009910 commonName VAR_009910
VAR_009910 disease phenotype-associated
VAR_009910 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009911 commonName VAR_009911
VAR_009911 disease phenotype-associated
VAR_009911 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009912 commonName VAR_009912
VAR_009912 disease phenotype-associated
VAR_009912 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009913 commonName VAR_009913
VAR_009913 disease phenotype-associated
VAR_009913 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009914 commonName VAR_009914
VAR_009914 disease phenotype-associated
VAR_009914 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009915 commonName VAR_009915
VAR_009915 disease phenotype-associated
VAR_009915 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009916 commonName VAR_009916
VAR_009916 disease phenotype-associated
VAR_009916 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_009918 commonName VAR_009918
VAR_009918 disease phenotype-associated
VAR_009918 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009919 commonName VAR_009919
VAR_009919 disease phenotype-associated
VAR_009919 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009920 commonName VAR_009920
VAR_009920 disease phenotype-associated
VAR_009920 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009921 commonName VAR_009921
VAR_009921 disease phenotype-associated
VAR_009921 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009922 commonName VAR_009922
VAR_009922 disease phenotype-associated
VAR_009922 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009923 commonName VAR_009923
VAR_009923 disease phenotype-associated
VAR_009923 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009924 commonName VAR_009924
VAR_009924 disease phenotype-associated
VAR_009924 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009925 commonName VAR_009925
VAR_009925 disease phenotype-associated
VAR_009925 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009926 commonName VAR_009926
VAR_009926 disease phenotype-associated
VAR_009926 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009927 commonName VAR_009927
VAR_009927 disease phenotype-associated
VAR_009927 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009928 commonName VAR_009928
VAR_009928 disease phenotype-associated
VAR_009928 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009929 commonName VAR_009929
VAR_009929 disease phenotype-associated
VAR_009929 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_009935 commonName VAR_009935
VAR_009935 disease phenotype-associated
VAR_009935 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_009936 commonName VAR_009936
VAR_009936 disease phenotype-associated
VAR_009936 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_009937 commonName VAR_009937
VAR_009937 disease phenotype-associated
VAR_009937 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_009938 commonName VAR_009938
VAR_009938 disease phenotype-associated
VAR_009938 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_009941 commonName VAR_009941
VAR_009941 disease phenotype-associated
VAR_009941 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
VAR_009942 commonName VAR_009942
VAR_009942 disease not phenotype-associated
VAR_009943 commonName VAR_009943
VAR_009943 disease not phenotype-associated
VAR_009944 commonName VAR_009944
VAR_009944 disease phenotype-associated
VAR_009944 phenoCommon Acrofacial dysostosis Weyers type (WAD) [MIM:193530]
VAR_009945 commonName VAR_009945
VAR_009945 disease not phenotype-associated
VAR_009946 commonName VAR_009946
VAR_009946 disease phenotype-associated
VAR_009946 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500]
VAR_009947 commonName VAR_009947
VAR_009947 disease not phenotype-associated
VAR_009948 commonName VAR_009948
VAR_009948 disease not phenotype-associated
VAR_009949 commonName VAR_009949
VAR_009949 disease not phenotype-associated
VAR_009950 commonName VAR_009950
VAR_009950 disease not phenotype-associated
VAR_009952 commonName VAR_009952
VAR_009952 disease phenotype-associated
VAR_009952 phenoCommon Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]
VAR_009953 commonName VAR_009953
VAR_009953 disease not phenotype-associated
VAR_009954 commonName VAR_009954
VAR_009954 disease not phenotype-associated
VAR_009955 commonName VAR_009955
VAR_009955 disease not phenotype-associated
VAR_009958 commonName VAR_009958
VAR_009958 disease not phenotype-associated
VAR_009959 commonName VAR_009959
VAR_009959 disease not phenotype-associated
VAR_009960 commonName VAR_009960
VAR_009960 disease not phenotype-associated
VAR_009961 commonName VAR_009961
VAR_009961 disease phenotype-associated
VAR_009961 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946]
VAR_009962 commonName VAR_009962
VAR_009962 disease phenotype-associated
VAR_009962 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946]
VAR_009965 commonName VAR_009965
VAR_009965 disease phenotype-associated
VAR_009965 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]
VAR_009966 commonName VAR_009966
VAR_009966 disease not phenotype-associated
VAR_009967 commonName VAR_009967
VAR_009968 commonName VAR_009968
VAR_009968 disease not phenotype-associated
VAR_009969 commonName VAR_009969
VAR_009969 disease phenotype-associated
VAR_009969 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_009970 commonName VAR_009970
VAR_009970 disease not phenotype-associated
VAR_009971 commonName VAR_009971
VAR_009971 disease phenotype-associated
VAR_009971 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009972 commonName VAR_009972
VAR_009972 disease phenotype-associated
VAR_009972 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009972 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_009974 commonName VAR_009974
VAR_009974 disease phenotype-associated
VAR_009974 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009975 commonName VAR_009975
VAR_009975 disease phenotype-associated
VAR_009975 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_009977 commonName VAR_009977
VAR_009977 disease phenotype-associated
VAR_009977 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_009978 commonName VAR_009978
VAR_009978 disease phenotype-associated
VAR_009978 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_009979 commonName VAR_009979
VAR_009979 disease phenotype-associated
VAR_009979 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009980 commonName VAR_009980
VAR_009980 disease phenotype-associated
VAR_009980 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009982 commonName VAR_009982
VAR_009982 disease phenotype-associated
VAR_009982 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009983 commonName VAR_009983
VAR_009983 disease phenotype-associated
VAR_009983 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009984 commonName VAR_009984
VAR_009984 disease phenotype-associated
VAR_009984 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009985 commonName VAR_009985
VAR_009985 disease phenotype-associated
VAR_009985 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009985 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_009986 commonName VAR_009986
VAR_009986 disease phenotype-associated
VAR_009986 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009987 commonName VAR_009987
VAR_009987 disease phenotype-associated
VAR_009987 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009988 commonName VAR_009988
VAR_009988 disease phenotype-associated
VAR_009988 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009989 commonName VAR_009989
VAR_009989 disease phenotype-associated
VAR_009989 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009990 commonName VAR_009990
VAR_009990 disease phenotype-associated
VAR_009990 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009991 commonName VAR_009991
VAR_009991 disease phenotype-associated
VAR_009991 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009992 commonName VAR_009992
VAR_009992 disease phenotype-associated
VAR_009992 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009993 commonName VAR_009993
VAR_009993 disease phenotype-associated
VAR_009993 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009994 commonName VAR_009994
VAR_009994 disease phenotype-associated
VAR_009994 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009995 commonName VAR_009995
VAR_009995 disease phenotype-associated
VAR_009995 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009995 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009996 commonName VAR_009996
VAR_009996 disease phenotype-associated
VAR_009996 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009997 commonName VAR_009997
VAR_009997 disease phenotype-associated
VAR_009997 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_009998 commonName VAR_009998
VAR_009998 disease phenotype-associated
VAR_009998 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_009999 commonName VAR_009999
VAR_009999 disease phenotype-associated
VAR_009999 phenoCommon Occipital horn syndrome (OHS) [MIM:304150]
VAR_010000 commonName VAR_010000
VAR_010000 disease not phenotype-associated
VAR_010001 commonName VAR_010001
VAR_010001 disease phenotype-associated
VAR_010001 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010002 commonName VAR_010002
VAR_010002 disease phenotype-associated
VAR_010002 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010003 commonName VAR_010003
VAR_010003 disease phenotype-associated
VAR_010003 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010004 commonName VAR_010004
VAR_010004 disease phenotype-associated
VAR_010004 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010005 commonName VAR_010005
VAR_010005 disease phenotype-associated
VAR_010005 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010006 commonName VAR_010006
VAR_010006 disease phenotype-associated
VAR_010006 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010007 commonName VAR_010007
VAR_010007 disease phenotype-associated
VAR_010007 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010008 commonName VAR_010008
VAR_010008 disease phenotype-associated
VAR_010008 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_010010 commonName VAR_010010
VAR_010010 disease phenotype-associated
VAR_010010 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_010022 commonName VAR_010022
VAR_010022 disease phenotype-associated
VAR_010022 phenoCommon Orthostatic intolerance (OI) [MIM:604715]
VAR_010023 commonName VAR_010023
VAR_010023 disease not phenotype-associated
VAR_010025 commonName VAR_010025
VAR_010025 disease phenotype-associated
VAR_010025 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010026 commonName VAR_010026
VAR_010026 disease phenotype-associated
VAR_010026 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010027 commonName VAR_010027
VAR_010027 disease phenotype-associated
VAR_010027 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010028 commonName VAR_010028
VAR_010028 disease not phenotype-associated
VAR_010029 commonName VAR_010029
VAR_010029 disease not phenotype-associated
VAR_010030 commonName VAR_010030
VAR_010030 disease not phenotype-associated
VAR_010031 commonName VAR_010031
VAR_010031 disease phenotype-associated
VAR_010031 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010032 commonName VAR_010032
VAR_010032 disease not phenotype-associated
VAR_010033 commonName VAR_010033
VAR_010033 disease phenotype-associated
VAR_010033 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010034 commonName VAR_010034
VAR_010034 disease phenotype-associated
VAR_010034 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_010038 commonName VAR_010038
VAR_010038 disease phenotype-associated
VAR_010038 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_010038 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_010039 commonName VAR_010039
VAR_010039 disease phenotype-associated
VAR_010039 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_010039 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_010040 commonName VAR_010040
VAR_010040 disease phenotype-associated
VAR_010040 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_010041 commonName VAR_010041
VAR_010041 disease not phenotype-associated
VAR_010042 commonName VAR_010042
VAR_010042 disease not phenotype-associated
VAR_010043 commonName VAR_010043
VAR_010043 disease not phenotype-associated
VAR_010044 commonName VAR_010044
VAR_010044 disease not phenotype-associated
VAR_010045 commonName VAR_010045
VAR_010046 commonName VAR_010046
VAR_010046 disease phenotype-associated
VAR_010046 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_010048 commonName VAR_010048
VAR_010048 disease phenotype-associated
VAR_010048 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_010049 commonName VAR_010049
VAR_010049 disease phenotype-associated
VAR_010049 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_010050 commonName VAR_010050
VAR_010050 disease phenotype-associated
VAR_010050 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_010051 commonName VAR_010051
VAR_010051 disease phenotype-associated
VAR_010051 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_010052 commonName VAR_010052
VAR_010052 disease not phenotype-associated
VAR_010053 commonName VAR_010053
VAR_010053 disease phenotype-associated
VAR_010053 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_010054 commonName VAR_010054
VAR_010054 disease phenotype-associated
VAR_010054 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_010055 commonName VAR_010055
VAR_010055 disease phenotype-associated
VAR_010055 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_010056 commonName VAR_010056
VAR_010056 disease phenotype-associated
VAR_010056 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_010058 commonName VAR_010058
VAR_010058 disease phenotype-associated
VAR_010058 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_010059 commonName VAR_010059
VAR_010059 disease phenotype-associated
VAR_010059 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010060 commonName VAR_010060
VAR_010060 disease phenotype-associated
VAR_010060 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010061 commonName VAR_010061
VAR_010061 disease phenotype-associated
VAR_010061 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010062 commonName VAR_010062
VAR_010062 disease phenotype-associated
VAR_010062 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010063 commonName VAR_010063
VAR_010063 disease phenotype-associated
VAR_010063 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010064 commonName VAR_010064
VAR_010064 disease phenotype-associated
VAR_010064 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010065 commonName VAR_010065
VAR_010065 disease phenotype-associated
VAR_010065 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010066 commonName VAR_010066
VAR_010066 disease phenotype-associated
VAR_010066 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010067 commonName VAR_010067
VAR_010067 disease phenotype-associated
VAR_010067 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010068 commonName VAR_010068
VAR_010068 disease phenotype-associated
VAR_010068 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010069 commonName VAR_010069
VAR_010069 disease phenotype-associated
VAR_010069 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010070 commonName VAR_010070
VAR_010070 disease phenotype-associated
VAR_010070 phenoCommon Gaucher disease type 3 (GD3) [MIM:231000]
VAR_010071 commonName VAR_010071
VAR_010071 disease phenotype-associated
VAR_010071 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_010072 commonName VAR_010072
VAR_010072 disease phenotype-associated
VAR_010072 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_010076 commonName VAR_010076
VAR_010076 disease phenotype-associated
VAR_010076 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010077 commonName VAR_010077
VAR_010077 disease phenotype-associated
VAR_010077 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010078 commonName VAR_010078
VAR_010078 disease phenotype-associated
VAR_010078 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010079 commonName VAR_010079
VAR_010079 disease phenotype-associated
VAR_010079 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010080 commonName VAR_010080
VAR_010080 disease phenotype-associated
VAR_010080 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010081 commonName VAR_010081
VAR_010081 disease phenotype-associated
VAR_010081 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010082 commonName VAR_010082
VAR_010082 disease phenotype-associated
VAR_010082 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010083 commonName VAR_010083
VAR_010083 disease phenotype-associated
VAR_010083 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010084 commonName VAR_010084
VAR_010084 disease phenotype-associated
VAR_010084 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_010085 commonName VAR_010085
VAR_010085 disease phenotype-associated
VAR_010085 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010086 commonName VAR_010086
VAR_010086 disease phenotype-associated
VAR_010086 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010087 commonName VAR_010087
VAR_010087 disease not phenotype-associated
VAR_010088 commonName VAR_010088
VAR_010088 disease not phenotype-associated
VAR_010089 commonName VAR_010089
VAR_010089 disease phenotype-associated
VAR_010089 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010090 commonName VAR_010090
VAR_010090 disease phenotype-associated
VAR_010090 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010091 commonName VAR_010091
VAR_010091 disease phenotype-associated
VAR_010091 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010092 commonName VAR_010092
VAR_010093 commonName VAR_010093
VAR_010093 disease not phenotype-associated
VAR_010095 commonName VAR_010095
VAR_010095 disease not phenotype-associated
VAR_010096 commonName VAR_010096
VAR_010096 disease phenotype-associated
VAR_010096 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010097 commonName VAR_010097
VAR_010097 disease phenotype-associated
VAR_010097 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010098 commonName VAR_010098
VAR_010098 disease not phenotype-associated
VAR_010099 commonName VAR_010099
VAR_010099 disease phenotype-associated
VAR_010099 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010100 commonName VAR_010100
VAR_010100 disease phenotype-associated
VAR_010100 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_010101 commonName VAR_010101
VAR_010101 disease phenotype-associated
VAR_010101 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_010102 commonName VAR_010102
VAR_010102 disease phenotype-associated
VAR_010102 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_010103 commonName VAR_010103
VAR_010103 disease phenotype-associated
VAR_010103 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_010104 commonName VAR_010104
VAR_010104 disease phenotype-associated
VAR_010104 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_010105 commonName VAR_010105
VAR_010105 disease phenotype-associated
VAR_010105 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
VAR_010107 commonName VAR_010107
VAR_010108 commonName VAR_010108
VAR_010108 disease phenotype-associated
VAR_010108 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_010109 commonName VAR_010109
VAR_010109 disease phenotype-associated
VAR_010109 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_010110 commonName VAR_010110
VAR_010110 disease phenotype-associated
VAR_010110 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_010111 commonName VAR_010111
VAR_010111 disease phenotype-associated
VAR_010111 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_010111 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_010112 commonName VAR_010112
VAR_010112 disease phenotype-associated
VAR_010112 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_010113 commonName VAR_010113
VAR_010113 disease phenotype-associated
VAR_010113 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_010114 commonName VAR_010114
VAR_010114 disease phenotype-associated
VAR_010114 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]
VAR_010115 commonName VAR_010115
VAR_010115 disease phenotype-associated
VAR_010115 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
VAR_010116 commonName VAR_010116
VAR_010116 disease phenotype-associated
VAR_010116 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_010116 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]
VAR_010116 phenoCommon Hypoplastic left heart syndrome type 2 (HLHS2) [MIM:614435]
VAR_010116 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_010117 commonName VAR_010117
VAR_010117 disease phenotype-associated
VAR_010117 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_010118 commonName VAR_010118
VAR_010118 disease phenotype-associated
VAR_010118 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_010119 commonName VAR_010119
VAR_010119 disease phenotype-associated
VAR_010119 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_010120 commonName VAR_010120
VAR_010120 disease phenotype-associated
VAR_010120 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010121 commonName VAR_010121
VAR_010121 disease phenotype-associated
VAR_010121 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010122 commonName VAR_010122
VAR_010122 disease phenotype-associated
VAR_010122 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010123 commonName VAR_010123
VAR_010123 disease phenotype-associated
VAR_010123 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010124 commonName VAR_010124
VAR_010124 disease phenotype-associated
VAR_010124 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010125 commonName VAR_010125
VAR_010125 disease phenotype-associated
VAR_010125 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010126 commonName VAR_010126
VAR_010126 disease phenotype-associated
VAR_010126 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010127 commonName VAR_010127
VAR_010127 disease phenotype-associated
VAR_010127 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010128 commonName VAR_010128
VAR_010128 disease phenotype-associated
VAR_010128 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010129 commonName VAR_010129
VAR_010129 disease phenotype-associated
VAR_010129 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_010130 commonName VAR_010130
VAR_010130 disease phenotype-associated
VAR_010130 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_010131 commonName VAR_010131
VAR_010131 disease phenotype-associated
VAR_010131 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_010132 commonName VAR_010132
VAR_010132 disease phenotype-associated
VAR_010132 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_010133 commonName VAR_010133
VAR_010133 disease phenotype-associated
VAR_010133 phenoCommon Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
VAR_010139 commonName VAR_010139
VAR_010139 disease phenotype-associated
VAR_010139 phenoCommon Leber congenital amaurosis type 4 (LCA4) [MIM:604393]
VAR_010140 commonName VAR_010140
VAR_010140 disease not phenotype-associated
VAR_010141 commonName VAR_010141
VAR_010141 disease phenotype-associated
VAR_010141 phenoCommon Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
VAR_010142 commonName VAR_010142
VAR_010142 disease phenotype-associated
VAR_010142 phenoCommon Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
VAR_010144 commonName VAR_010144
VAR_010145 commonName VAR_010145
VAR_010148 commonName VAR_010148
VAR_010148 disease not phenotype-associated
VAR_010149 commonName VAR_010149
VAR_010149 disease not phenotype-associated
VAR_010154 commonName VAR_010154
VAR_010154 disease phenotype-associated
VAR_010154 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_010155 commonName VAR_010155
VAR_010155 disease phenotype-associated
VAR_010155 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_010156 commonName VAR_010156
VAR_010156 disease phenotype-associated
VAR_010156 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010157 commonName VAR_010157
VAR_010157 disease phenotype-associated
VAR_010157 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010158 commonName VAR_010158
VAR_010158 disease phenotype-associated
VAR_010158 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_010159 commonName VAR_010159
VAR_010159 disease phenotype-associated
VAR_010159 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010160 commonName VAR_010160
VAR_010160 disease phenotype-associated
VAR_010160 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010161 commonName VAR_010161
VAR_010161 disease phenotype-associated
VAR_010161 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010162 comment Leydig cell tumor
VAR_010162 commonName VAR_010162
VAR_010163 commonName VAR_010163
VAR_010163 disease phenotype-associated
VAR_010163 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010164 commonName VAR_010164
VAR_010164 disease phenotype-associated
VAR_010164 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_010165 commonName VAR_010165
VAR_010165 disease phenotype-associated
VAR_010165 phenoCommon Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]
VAR_010166 commonName VAR_010166
VAR_010167 commonName VAR_010167
VAR_010168 commonName VAR_010168
VAR_010169 commonName VAR_010169
VAR_010169 disease phenotype-associated
VAR_010169 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010170 commonName VAR_010170
VAR_010172 commonName VAR_010172
VAR_010172 disease phenotype-associated
VAR_010172 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010173 commonName VAR_010173
VAR_010173 disease phenotype-associated
VAR_010173 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010174 commonName VAR_010174
VAR_010174 disease phenotype-associated
VAR_010174 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010175 commonName VAR_010175
VAR_010175 disease phenotype-associated
VAR_010175 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010176 commonName VAR_010176
VAR_010176 disease phenotype-associated
VAR_010176 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010177 commonName VAR_010177
VAR_010177 disease phenotype-associated
VAR_010177 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010178 commonName VAR_010178
VAR_010178 disease phenotype-associated
VAR_010178 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010179 commonName VAR_010179
VAR_010179 disease phenotype-associated
VAR_010179 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010180 commonName VAR_010180
VAR_010180 disease phenotype-associated
VAR_010180 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010181 commonName VAR_010181
VAR_010181 disease phenotype-associated
VAR_010181 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010182 commonName VAR_010182
VAR_010182 disease phenotype-associated
VAR_010182 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010183 commonName VAR_010183
VAR_010183 disease phenotype-associated
VAR_010183 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010184 commonName VAR_010184
VAR_010184 disease phenotype-associated
VAR_010184 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010185 commonName VAR_010185
VAR_010185 disease phenotype-associated
VAR_010185 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010187 commonName VAR_010187
VAR_010187 disease phenotype-associated
VAR_010187 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_010188 commonName VAR_010188
VAR_010189 commonName VAR_010189
VAR_010190 commonName VAR_010190
VAR_010190 disease not phenotype-associated
VAR_010191 commonName VAR_010191
VAR_010191 disease not phenotype-associated
VAR_010192 commonName VAR_010192
VAR_010192 disease not phenotype-associated
VAR_010193 commonName VAR_010193
VAR_010193 disease not phenotype-associated
VAR_010194 commonName VAR_010194
VAR_010194 disease not phenotype-associated
VAR_010195 commonName VAR_010195
VAR_010195 disease phenotype-associated
VAR_010195 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_010196 commonName VAR_010196
VAR_010196 disease phenotype-associated
VAR_010196 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_010197 commonName VAR_010197
VAR_010197 disease phenotype-associated
VAR_010197 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_010198 commonName VAR_010198
VAR_010198 disease phenotype-associated
VAR_010198 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_010199 commonName VAR_010199
VAR_010199 disease phenotype-associated
VAR_010199 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_010201 commonName VAR_010201
VAR_010201 disease phenotype-associated
VAR_010201 phenoCommon Parietal foramina 1 (PFM1) [MIM:168500]
VAR_010202 commonName VAR_010202
VAR_010203 commonName VAR_010203
VAR_010203 disease phenotype-associated
VAR_010203 phenoCommon Subcortical band heterotopia (SBH) [MIM:607432]
VAR_010204 commonName VAR_010204
VAR_010204 disease not phenotype-associated
VAR_010206 commonName VAR_010206
VAR_010206 disease phenotype-associated
VAR_010206 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_010207 commonName VAR_010207
VAR_010207 disease phenotype-associated
VAR_010207 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
VAR_010208 commonName VAR_010208
VAR_010208 disease phenotype-associated
VAR_010208 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
VAR_010209 commonName VAR_010209
VAR_010209 disease not phenotype-associated
VAR_010210 commonName VAR_010210
VAR_010210 disease not phenotype-associated
VAR_010211 commonName VAR_010211
VAR_010211 disease not phenotype-associated
VAR_010212 commonName VAR_010212
VAR_010212 disease not phenotype-associated
VAR_010213 commonName VAR_010213
VAR_010213 disease not phenotype-associated
VAR_010214 commonName VAR_010214
VAR_010214 disease not phenotype-associated
VAR_010215 commonName VAR_010215
VAR_010215 disease not phenotype-associated
VAR_010216 commonName VAR_010216
VAR_010216 disease phenotype-associated
VAR_010216 phenoCommon Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
VAR_010217 commonName VAR_010217
VAR_010217 disease not phenotype-associated
VAR_010223 commonName VAR_010223
VAR_010223 disease phenotype-associated
VAR_010223 phenoCommon Bartter syndrome type 1 (BS1) [MIM:601678]
VAR_010224 commonName VAR_010224
VAR_010224 disease phenotype-associated
VAR_010224 phenoCommon Bartter syndrome type 1 (BS1) [MIM:601678]
VAR_010225 commonName VAR_010225
VAR_010225 disease phenotype-associated
VAR_010225 phenoCommon Septooptic dysplasia (SOD) [MIM:182230]
VAR_010226 commonName VAR_010226
VAR_010226 disease not phenotype-associated
VAR_010230 commonName VAR_010230
VAR_010230 disease not phenotype-associated
VAR_010231 commonName VAR_010231
VAR_010231 disease phenotype-associated
VAR_010231 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010232 commonName VAR_010232
VAR_010232 disease phenotype-associated
VAR_010232 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010233 commonName VAR_010233
VAR_010233 disease phenotype-associated
VAR_010233 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010234 commonName VAR_010234
VAR_010234 disease phenotype-associated
VAR_010234 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010235 commonName VAR_010235
VAR_010235 disease phenotype-associated
VAR_010235 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010236 commonName VAR_010236
VAR_010236 disease phenotype-associated
VAR_010236 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995]
VAR_010237 commonName VAR_010237
VAR_010237 disease phenotype-associated
VAR_010237 phenoCommon Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]
VAR_010238 commonName VAR_010238
VAR_010238 disease phenotype-associated
VAR_010238 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_010241 commonName VAR_010241
VAR_010241 disease not phenotype-associated
VAR_010242 commonName VAR_010242
VAR_010242 disease phenotype-associated
VAR_010242 phenoCommon Von Willebrand disease type 1 (VWD1) [MIM:193400]
VAR_010242 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480]
VAR_010248 commonName VAR_010248
VAR_010248 disease phenotype-associated
VAR_010248 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
VAR_010249 commonName VAR_010249
VAR_010249 disease phenotype-associated
VAR_010249 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
VAR_010250 commonName VAR_010250
VAR_010250 disease phenotype-associated
VAR_010250 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
VAR_010251 commonName VAR_010251
VAR_010251 disease not phenotype-associated
VAR_010252 commonName VAR_010252
VAR_010252 disease not phenotype-associated
VAR_010254 commonName VAR_010254
VAR_010254 disease not phenotype-associated
VAR_010255 commonName VAR_010255
VAR_010256 commonName VAR_010256
VAR_010256 disease phenotype-associated
VAR_010256 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_010257 commonName VAR_010257
VAR_010257 disease phenotype-associated
VAR_010257 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_010258 commonName VAR_010258
VAR_010258 disease phenotype-associated
VAR_010258 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_010259 commonName VAR_010259
VAR_010259 disease phenotype-associated
VAR_010259 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_010260 commonName VAR_010260
VAR_010260 disease phenotype-associated
VAR_010260 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_010261 commonName VAR_010261
VAR_010261 disease phenotype-associated
VAR_010261 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_010262 commonName VAR_010262
VAR_010262 disease phenotype-associated
VAR_010262 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_010263 commonName VAR_010263
VAR_010263 disease phenotype-associated
VAR_010263 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
VAR_010264 commonName VAR_010264
VAR_010264 disease not phenotype-associated
VAR_010265 commonName VAR_010265
VAR_010265 disease phenotype-associated
VAR_010265 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
VAR_010266 commonName VAR_010266
VAR_010266 disease phenotype-associated
VAR_010266 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
VAR_010267 commonName VAR_010267
VAR_010267 disease phenotype-associated
VAR_010267 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
VAR_010268 commonName VAR_010268
VAR_010269 commonName VAR_010269
VAR_010269 disease phenotype-associated
VAR_010269 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]
VAR_010270 commonName VAR_010270
VAR_010271 commonName VAR_010271
VAR_010271 disease phenotype-associated
VAR_010271 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
VAR_010271 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_010272 commonName VAR_010272
VAR_010272 disease phenotype-associated
VAR_010272 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010273 commonName VAR_010273
VAR_010273 disease phenotype-associated
VAR_010273 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010274 commonName VAR_010274
VAR_010274 disease phenotype-associated
VAR_010274 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010275 commonName VAR_010275
VAR_010275 disease phenotype-associated
VAR_010275 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010276 commonName VAR_010276
VAR_010276 disease phenotype-associated
VAR_010276 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010277 commonName VAR_010277
VAR_010277 disease phenotype-associated
VAR_010277 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010278 commonName VAR_010278
VAR_010278 disease phenotype-associated
VAR_010278 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010279 commonName VAR_010279
VAR_010279 disease phenotype-associated
VAR_010279 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_010280 commonName VAR_010280
VAR_010280 disease phenotype-associated
VAR_010280 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010281 commonName VAR_010281
VAR_010281 disease not phenotype-associated
VAR_010282 commonName VAR_010282
VAR_010282 disease phenotype-associated
VAR_010282 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_010283 commonName VAR_010283
VAR_010283 disease not phenotype-associated
VAR_010285 commonName VAR_010285
VAR_010285 disease not phenotype-associated
VAR_010286 commonName VAR_010286
VAR_010286 disease phenotype-associated
VAR_010286 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010289 commonName VAR_010289
VAR_010289 disease not phenotype-associated
VAR_010290 commonName VAR_010290
VAR_010290 disease not phenotype-associated
VAR_010291 commonName VAR_010291
VAR_010291 disease not phenotype-associated
VAR_010292 commonName VAR_010292
VAR_010292 disease not phenotype-associated
VAR_010293 commonName VAR_010293
VAR_010293 disease phenotype-associated
VAR_010293 phenoCommon Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]
VAR_010294 commonName VAR_010294
VAR_010294 disease phenotype-associated
VAR_010294 phenoCommon Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]
VAR_010295 commonName VAR_010295
VAR_010295 disease not phenotype-associated
VAR_010296 commonName VAR_010296
VAR_010296 disease not phenotype-associated
VAR_010303 commonName VAR_010303
VAR_010303 disease phenotype-associated
VAR_010303 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]
VAR_010304 commonName VAR_010304
VAR_010304 disease phenotype-associated
VAR_010304 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]
VAR_010305 commonName VAR_010305
VAR_010305 disease not phenotype-associated
VAR_010306 commonName VAR_010306
VAR_010306 disease phenotype-associated
VAR_010306 phenoCommon Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
VAR_010313 commonName VAR_010313
VAR_010313 disease not phenotype-associated
VAR_010314 commonName VAR_010314
VAR_010314 disease not phenotype-associated
VAR_010315 commonName VAR_010315
VAR_010315 disease not phenotype-associated
VAR_010316 commonName VAR_010316
VAR_010316 disease not phenotype-associated
VAR_010317 commonName VAR_010317
VAR_010317 disease not phenotype-associated
VAR_010319 commonName VAR_010319
VAR_010319 disease not phenotype-associated
VAR_010320 commonName VAR_010320
VAR_010320 disease not phenotype-associated
VAR_010321 commonName VAR_010321
VAR_010321 disease not phenotype-associated
VAR_010322 commonName VAR_010322
VAR_010322 disease not phenotype-associated
VAR_010323 commonName VAR_010323
VAR_010323 disease not phenotype-associated
VAR_010324 commonName VAR_010324
VAR_010324 disease not phenotype-associated
VAR_010325 commonName VAR_010325
VAR_010325 disease not phenotype-associated
VAR_010326 commonName VAR_010326
VAR_010326 disease not phenotype-associated
VAR_010327 commonName VAR_010327
VAR_010327 disease not phenotype-associated
VAR_010328 commonName VAR_010328
VAR_010328 disease not phenotype-associated
VAR_010329 commonName VAR_010329
VAR_010329 disease not phenotype-associated
VAR_010330 commonName VAR_010330
VAR_010330 disease not phenotype-associated
VAR_010336 commonName VAR_010336
VAR_010336 disease not phenotype-associated
VAR_010337 commonName VAR_010337
VAR_010337 disease phenotype-associated
VAR_010337 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_010338 commonName VAR_010338
VAR_010338 disease phenotype-associated
VAR_010338 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_010339 commonName VAR_010339
VAR_010339 disease phenotype-associated
VAR_010339 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_010354 commonName VAR_010354
VAR_010354 disease not phenotype-associated
VAR_010355 commonName VAR_010355
VAR_010355 disease not phenotype-associated
VAR_010356 commonName VAR_010356
VAR_010356 disease not phenotype-associated
VAR_010357 commonName VAR_010357
VAR_010357 disease not phenotype-associated
VAR_010358 comment An ovarian clear cell adenocarcinoma
VAR_010358 commonName VAR_010358
VAR_010359 commonName VAR_010359
VAR_010359 disease not phenotype-associated
VAR_010360 comment A breast cancer sample
VAR_010360 commonName VAR_010360
VAR_010361 comment An uterine cancer sample
VAR_010361 commonName VAR_010361
VAR_010376 commonName VAR_010376
VAR_010376 disease not phenotype-associated
VAR_010378 commonName VAR_010378
VAR_010378 disease phenotype-associated
VAR_010378 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
VAR_010379 commonName VAR_010379
VAR_010379 disease phenotype-associated
VAR_010379 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
VAR_010380 commonName VAR_010380
VAR_010380 disease phenotype-associated
VAR_010380 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
VAR_010381 commonName VAR_010381
VAR_010381 disease not phenotype-associated
VAR_010382 commonName VAR_010382
VAR_010382 disease not phenotype-associated
VAR_010383 commonName VAR_010383
VAR_010383 disease not phenotype-associated
VAR_010384 commonName VAR_010384
VAR_010384 disease not phenotype-associated
VAR_010385 commonName VAR_010385
VAR_010385 disease phenotype-associated
VAR_010385 phenoCommon Left-right axis malformations (LRAM) [MIM:601877]
VAR_010386 commonName VAR_010386
VAR_010386 disease not phenotype-associated
VAR_010387 commonName VAR_010387
VAR_010387 disease phenotype-associated
VAR_010387 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010388 commonName VAR_010388
VAR_010388 disease phenotype-associated
VAR_010388 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010389 commonName VAR_010389
VAR_010389 disease phenotype-associated
VAR_010389 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010390 commonName VAR_010390
VAR_010390 disease phenotype-associated
VAR_010390 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010391 commonName VAR_010391
VAR_010391 disease phenotype-associated
VAR_010391 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010392 commonName VAR_010392
VAR_010392 disease phenotype-associated
VAR_010392 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010393 commonName VAR_010393
VAR_010393 disease phenotype-associated
VAR_010393 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010394 commonName VAR_010394
VAR_010394 disease phenotype-associated
VAR_010394 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010395 commonName VAR_010395
VAR_010395 disease phenotype-associated
VAR_010395 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010396 commonName VAR_010396
VAR_010396 disease phenotype-associated
VAR_010396 phenoCommon Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]
VAR_010397 commonName VAR_010397
VAR_010397 disease not phenotype-associated
VAR_010398 commonName VAR_010398
VAR_010398 disease phenotype-associated
VAR_010398 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]
VAR_010399 commonName VAR_010399
VAR_010399 disease not phenotype-associated
VAR_010400 commonName VAR_010400
VAR_010400 disease not phenotype-associated
VAR_010401 commonName VAR_010401
VAR_010401 disease not phenotype-associated
VAR_010402 commonName VAR_010402
VAR_010402 disease phenotype-associated
VAR_010402 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010403 commonName VAR_010403
VAR_010403 disease phenotype-associated
VAR_010403 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010404 commonName VAR_010404
VAR_010404 disease phenotype-associated
VAR_010404 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010405 commonName VAR_010405
VAR_010405 disease phenotype-associated
VAR_010405 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010406 commonName VAR_010406
VAR_010406 disease phenotype-associated
VAR_010406 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010407 commonName VAR_010407
VAR_010407 disease phenotype-associated
VAR_010407 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010408 commonName VAR_010408
VAR_010408 disease phenotype-associated
VAR_010408 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010409 commonName VAR_010409
VAR_010409 disease phenotype-associated
VAR_010409 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010410 commonName VAR_010410
VAR_010410 disease phenotype-associated
VAR_010410 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010411 commonName VAR_010411
VAR_010411 disease phenotype-associated
VAR_010411 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010412 commonName VAR_010412
VAR_010412 disease phenotype-associated
VAR_010412 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010413 commonName VAR_010413
VAR_010413 disease phenotype-associated
VAR_010413 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010414 commonName VAR_010414
VAR_010414 disease phenotype-associated
VAR_010414 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010415 commonName VAR_010415
VAR_010415 disease phenotype-associated
VAR_010415 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010416 commonName VAR_010416
VAR_010416 disease phenotype-associated
VAR_010416 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010417 commonName VAR_010417
VAR_010417 disease phenotype-associated
VAR_010417 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010418 commonName VAR_010418
VAR_010418 disease phenotype-associated
VAR_010418 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010419 commonName VAR_010419
VAR_010419 disease phenotype-associated
VAR_010419 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010420 commonName VAR_010420
VAR_010420 disease phenotype-associated
VAR_010420 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010421 commonName VAR_010421
VAR_010422 commonName VAR_010422
VAR_010422 disease phenotype-associated
VAR_010422 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010423 commonName VAR_010423
VAR_010424 commonName VAR_010424
VAR_010424 disease phenotype-associated
VAR_010424 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010425 commonName VAR_010425
VAR_010426 commonName VAR_010426
VAR_010426 disease phenotype-associated
VAR_010426 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]
VAR_010427 commonName VAR_010427
VAR_010428 commonName VAR_010428
VAR_010429 commonName VAR_010429
VAR_010429 disease not phenotype-associated
VAR_010430 commonName VAR_010430
VAR_010430 disease phenotype-associated
VAR_010430 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]
VAR_010431 commonName VAR_010431
VAR_010431 disease phenotype-associated
VAR_010431 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010432 commonName VAR_010432
VAR_010432 disease phenotype-associated
VAR_010432 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010433 commonName VAR_010433
VAR_010433 disease phenotype-associated
VAR_010433 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_010434 commonName VAR_010434
VAR_010434 disease phenotype-associated
VAR_010434 phenoCommon Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
VAR_010435 commonName VAR_010435
VAR_010435 disease phenotype-associated
VAR_010435 phenoCommon Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
VAR_010436 commonName VAR_010436
VAR_010436 disease not phenotype-associated
VAR_010437 commonName VAR_010437
VAR_010437 disease not phenotype-associated
VAR_010438 commonName VAR_010438
VAR_010438 disease phenotype-associated
VAR_010438 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010439 commonName VAR_010439
VAR_010439 disease not phenotype-associated
VAR_010440 commonName VAR_010440
VAR_010440 disease phenotype-associated
VAR_010440 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010441 commonName VAR_010441
VAR_010441 disease phenotype-associated
VAR_010441 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010442 commonName VAR_010442
VAR_010442 disease phenotype-associated
VAR_010442 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010442 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010443 commonName VAR_010443
VAR_010443 disease phenotype-associated
VAR_010443 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010444 commonName VAR_010444
VAR_010444 disease phenotype-associated
VAR_010444 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010445 commonName VAR_010445
VAR_010445 disease phenotype-associated
VAR_010445 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010446 commonName VAR_010446
VAR_010446 disease phenotype-associated
VAR_010446 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010447 commonName VAR_010447
VAR_010447 disease phenotype-associated
VAR_010447 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010448 commonName VAR_010448
VAR_010448 disease phenotype-associated
VAR_010448 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010449 commonName VAR_010449
VAR_010449 disease phenotype-associated
VAR_010449 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010450 commonName VAR_010450
VAR_010450 disease phenotype-associated
VAR_010450 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010451 commonName VAR_010451
VAR_010451 disease phenotype-associated
VAR_010451 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010452 commonName VAR_010452
VAR_010452 disease phenotype-associated
VAR_010452 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010453 commonName VAR_010453
VAR_010453 disease phenotype-associated
VAR_010453 phenoCommon Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960]
VAR_010454 commonName VAR_010454
VAR_010454 disease phenotype-associated
VAR_010454 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010455 commonName VAR_010455
VAR_010455 disease phenotype-associated
VAR_010455 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010456 commonName VAR_010456
VAR_010456 disease phenotype-associated
VAR_010456 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010457 commonName VAR_010457
VAR_010457 disease phenotype-associated
VAR_010457 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010458 commonName VAR_010458
VAR_010458 disease phenotype-associated
VAR_010458 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010459 commonName VAR_010459
VAR_010459 disease phenotype-associated
VAR_010459 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010460 commonName VAR_010460
VAR_010460 disease phenotype-associated
VAR_010460 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010461 commonName VAR_010461
VAR_010461 disease phenotype-associated
VAR_010461 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_010462 commonName VAR_010462
VAR_010462 disease phenotype-associated
VAR_010462 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010463 commonName VAR_010463
VAR_010463 disease phenotype-associated
VAR_010463 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010464 commonName VAR_010464
VAR_010464 disease phenotype-associated
VAR_010464 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010465 commonName VAR_010465
VAR_010465 disease phenotype-associated
VAR_010465 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_010466 commonName VAR_010466
VAR_010466 disease phenotype-associated
VAR_010466 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010467 commonName VAR_010467
VAR_010467 disease phenotype-associated
VAR_010467 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_010468 commonName VAR_010468
VAR_010468 disease phenotype-associated
VAR_010468 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010469 commonName VAR_010469
VAR_010469 disease phenotype-associated
VAR_010469 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010470 commonName VAR_010470
VAR_010470 disease phenotype-associated
VAR_010470 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010471 commonName VAR_010471
VAR_010471 disease phenotype-associated
VAR_010471 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010472 commonName VAR_010472
VAR_010472 disease phenotype-associated
VAR_010472 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010473 commonName VAR_010473
VAR_010473 disease phenotype-associated
VAR_010473 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010474 commonName VAR_010474
VAR_010474 disease phenotype-associated
VAR_010474 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010475 commonName VAR_010475
VAR_010475 disease phenotype-associated
VAR_010475 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010476 commonName VAR_010476
VAR_010476 disease phenotype-associated
VAR_010476 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010477 commonName VAR_010477
VAR_010477 disease not phenotype-associated
VAR_010478 commonName VAR_010478
VAR_010478 disease phenotype-associated
VAR_010478 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010479 commonName VAR_010479
VAR_010479 disease phenotype-associated
VAR_010479 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_010480 commonName VAR_010480
VAR_010481 commonName VAR_010481
VAR_010481 disease phenotype-associated
VAR_010481 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010482 commonName VAR_010482
VAR_010482 disease phenotype-associated
VAR_010482 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010483 commonName VAR_010483
VAR_010483 disease phenotype-associated
VAR_010483 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010484 commonName VAR_010484
VAR_010484 disease phenotype-associated
VAR_010484 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010485 commonName VAR_010485
VAR_010485 disease phenotype-associated
VAR_010485 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010486 commonName VAR_010486
VAR_010486 disease phenotype-associated
VAR_010486 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010487 commonName VAR_010487
VAR_010487 disease phenotype-associated
VAR_010487 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_010492 commonName VAR_010492
VAR_010492 disease phenotype-associated
VAR_010492 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_010493 commonName VAR_010493
VAR_010493 disease phenotype-associated
VAR_010493 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_010494 commonName VAR_010494
VAR_010494 disease phenotype-associated
VAR_010494 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_010496 commonName VAR_010496
VAR_010496 disease not phenotype-associated
VAR_010497 commonName VAR_010497
VAR_010497 disease phenotype-associated
VAR_010497 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_010498 commonName VAR_010498
VAR_010498 disease phenotype-associated
VAR_010498 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_010499 commonName VAR_010499
VAR_010499 disease phenotype-associated
VAR_010499 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010500 commonName VAR_010500
VAR_010500 disease phenotype-associated
VAR_010500 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010501 commonName VAR_010501
VAR_010501 disease phenotype-associated
VAR_010501 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010502 commonName VAR_010502
VAR_010502 disease phenotype-associated
VAR_010502 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010503 commonName VAR_010503
VAR_010503 disease phenotype-associated
VAR_010503 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010504 commonName VAR_010504
VAR_010504 disease phenotype-associated
VAR_010504 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_010505 commonName VAR_010505
VAR_010505 disease not phenotype-associated
VAR_010506 commonName VAR_010506
VAR_010506 disease phenotype-associated
VAR_010506 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_010507 commonName VAR_010507
VAR_010508 commonName VAR_010508
VAR_010508 disease phenotype-associated
VAR_010508 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_010509 commonName VAR_010509
VAR_010509 disease phenotype-associated
VAR_010509 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_010510 commonName VAR_010510
VAR_010510 disease phenotype-associated
VAR_010510 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_010511 commonName VAR_010511
VAR_010511 disease phenotype-associated
VAR_010511 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602]
VAR_010512 commonName VAR_010512
VAR_010512 disease phenotype-associated
VAR_010512 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_010512 phenoCommon Steatocystoma multiplex (SM) [MIM:184500]
VAR_010513 commonName VAR_010513
VAR_010513 disease phenotype-associated
VAR_010513 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_010513 phenoCommon Steatocystoma multiplex (SM) [MIM:184500]
VAR_010514 commonName VAR_010514
VAR_010514 disease phenotype-associated
VAR_010514 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_010515 commonName VAR_010515
VAR_010515 disease phenotype-associated
VAR_010515 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_010516 commonName VAR_010516
VAR_010516 disease phenotype-associated
VAR_010516 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_010517 commonName VAR_010517
VAR_010517 disease phenotype-associated
VAR_010517 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010518 commonName VAR_010518
VAR_010518 disease phenotype-associated
VAR_010518 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010519 commonName VAR_010519
VAR_010519 disease phenotype-associated
VAR_010519 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010520 commonName VAR_010520
VAR_010520 disease phenotype-associated
VAR_010520 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010521 commonName VAR_010521
VAR_010521 disease phenotype-associated
VAR_010521 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010522 commonName VAR_010522
VAR_010522 disease phenotype-associated
VAR_010522 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010523 commonName VAR_010523
VAR_010523 disease phenotype-associated
VAR_010523 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010524 commonName VAR_010524
VAR_010524 disease phenotype-associated
VAR_010524 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010525 commonName VAR_010525
VAR_010525 disease phenotype-associated
VAR_010525 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010526 commonName VAR_010526
VAR_010526 disease phenotype-associated
VAR_010526 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010527 commonName VAR_010527
VAR_010527 disease phenotype-associated
VAR_010527 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010528 commonName VAR_010528
VAR_010528 disease phenotype-associated
VAR_010528 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010529 commonName VAR_010529
VAR_010529 disease phenotype-associated
VAR_010529 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010530 commonName VAR_010530
VAR_010530 disease phenotype-associated
VAR_010530 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010531 commonName VAR_010531
VAR_010531 disease phenotype-associated
VAR_010531 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010533 commonName VAR_010533
VAR_010533 disease phenotype-associated
VAR_010533 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010534 commonName VAR_010534
VAR_010534 disease phenotype-associated
VAR_010534 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010535 commonName VAR_010535
VAR_010535 disease phenotype-associated
VAR_010535 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_010536 commonName VAR_010536
VAR_010536 disease phenotype-associated
VAR_010536 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_010537 commonName VAR_010537
VAR_010537 disease phenotype-associated
VAR_010537 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010538 commonName VAR_010538
VAR_010538 disease phenotype-associated
VAR_010538 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010539 commonName VAR_010539
VAR_010539 disease phenotype-associated
VAR_010539 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]
VAR_010540 commonName VAR_010540
VAR_010540 disease not phenotype-associated
VAR_010541 commonName VAR_010541
VAR_010541 disease phenotype-associated
VAR_010541 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010542 commonName VAR_010542
VAR_010542 disease phenotype-associated
VAR_010542 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010543 commonName VAR_010543
VAR_010543 disease phenotype-associated
VAR_010543 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010544 commonName VAR_010544
VAR_010544 disease phenotype-associated
VAR_010544 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010545 commonName VAR_010545
VAR_010545 disease phenotype-associated
VAR_010545 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010546 commonName VAR_010546
VAR_010546 disease phenotype-associated
VAR_010546 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010547 commonName VAR_010547
VAR_010547 disease phenotype-associated
VAR_010547 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010548 commonName VAR_010548
VAR_010548 disease phenotype-associated
VAR_010548 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010549 commonName VAR_010549
VAR_010549 disease phenotype-associated
VAR_010549 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010550 commonName VAR_010550
VAR_010550 disease phenotype-associated
VAR_010550 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010551 commonName VAR_010551
VAR_010551 disease phenotype-associated
VAR_010551 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010552 commonName VAR_010552
VAR_010554 commonName VAR_010554
VAR_010554 disease phenotype-associated
VAR_010554 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010555 commonName VAR_010555
VAR_010555 disease phenotype-associated
VAR_010555 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010556 commonName VAR_010556
VAR_010556 disease phenotype-associated
VAR_010556 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010557 commonName VAR_010557
VAR_010557 disease phenotype-associated
VAR_010557 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]
VAR_010557 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010558 commonName VAR_010558
VAR_010558 disease not phenotype-associated
VAR_010559 commonName VAR_010559
VAR_010559 disease phenotype-associated
VAR_010559 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010560 commonName VAR_010560
VAR_010560 disease phenotype-associated
VAR_010560 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010561 commonName VAR_010561
VAR_010561 disease phenotype-associated
VAR_010561 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010562 commonName VAR_010562
VAR_010562 disease phenotype-associated
VAR_010562 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_010563 commonName VAR_010563
VAR_010564 commonName VAR_010564
VAR_010565 commonName VAR_010565
VAR_010565 disease phenotype-associated
VAR_010565 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]
VAR_010574 commonName VAR_010574
VAR_010574 disease phenotype-associated
VAR_010574 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_010575 commonName VAR_010575
VAR_010575 disease phenotype-associated
VAR_010575 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_010576 commonName VAR_010576
VAR_010576 disease phenotype-associated
VAR_010576 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_010577 commonName VAR_010577
VAR_010577 disease not phenotype-associated
VAR_010578 commonName VAR_010578
VAR_010578 disease not phenotype-associated
VAR_010579 commonName VAR_010579
VAR_010579 disease not phenotype-associated
VAR_010580 commonName VAR_010580
VAR_010580 disease not phenotype-associated
VAR_010581 commonName VAR_010581
VAR_010581 disease not phenotype-associated
VAR_010582 commonName VAR_010582
VAR_010582 disease not phenotype-associated
VAR_010583 commonName VAR_010583
VAR_010583 disease not phenotype-associated
VAR_010584 commonName VAR_010584
VAR_010584 disease phenotype-associated
VAR_010584 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010585 commonName VAR_010585
VAR_010585 disease phenotype-associated
VAR_010585 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010586 commonName VAR_010586
VAR_010586 disease phenotype-associated
VAR_010586 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010587 commonName VAR_010587
VAR_010587 disease phenotype-associated
VAR_010587 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010588 commonName VAR_010588
VAR_010588 disease phenotype-associated
VAR_010588 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010589 commonName VAR_010589
VAR_010589 disease phenotype-associated
VAR_010589 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010590 commonName VAR_010590
VAR_010590 disease phenotype-associated
VAR_010590 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010591 commonName VAR_010591
VAR_010591 disease phenotype-associated
VAR_010591 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010592 commonName VAR_010592
VAR_010592 disease phenotype-associated
VAR_010592 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010593 commonName VAR_010593
VAR_010593 disease phenotype-associated
VAR_010593 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010594 commonName VAR_010594
VAR_010594 disease phenotype-associated
VAR_010594 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010595 commonName VAR_010595
VAR_010595 disease phenotype-associated
VAR_010595 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010596 commonName VAR_010596
VAR_010596 disease phenotype-associated
VAR_010596 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010597 commonName VAR_010597
VAR_010597 disease phenotype-associated
VAR_010597 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010598 commonName VAR_010598
VAR_010598 disease phenotype-associated
VAR_010598 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010599 commonName VAR_010599
VAR_010599 disease phenotype-associated
VAR_010599 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_010600 commonName VAR_010600
VAR_010601 commonName VAR_010601
VAR_010601 disease phenotype-associated
VAR_010601 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]
VAR_010602 commonName VAR_010602
VAR_010602 disease not phenotype-associated
VAR_010603 commonName VAR_010603
VAR_010603 disease not phenotype-associated
VAR_010605 commonName VAR_010605
VAR_010605 disease phenotype-associated
VAR_010605 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010606 commonName VAR_010606
VAR_010606 disease phenotype-associated
VAR_010606 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010607 commonName VAR_010607
VAR_010607 disease phenotype-associated
VAR_010607 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010608 commonName VAR_010608
VAR_010608 disease phenotype-associated
VAR_010608 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010609 commonName VAR_010609
VAR_010609 disease phenotype-associated
VAR_010609 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010610 commonName VAR_010610
VAR_010610 disease phenotype-associated
VAR_010610 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_010611 commonName VAR_010611
VAR_010611 disease phenotype-associated
VAR_010611 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_010612 commonName VAR_010612
VAR_010612 disease phenotype-associated
VAR_010612 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_010613 commonName VAR_010613
VAR_010613 disease phenotype-associated
VAR_010613 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_010614 commonName VAR_010614
VAR_010614 disease phenotype-associated
VAR_010614 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_010615 commonName VAR_010615
VAR_010615 disease phenotype-associated
VAR_010615 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_010616 commonName VAR_010616
VAR_010616 disease phenotype-associated
VAR_010616 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010617 commonName VAR_010617
VAR_010617 disease phenotype-associated
VAR_010617 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010618 commonName VAR_010618
VAR_010618 disease phenotype-associated
VAR_010618 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010619 commonName VAR_010619
VAR_010619 disease phenotype-associated
VAR_010619 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010620 commonName VAR_010620
VAR_010620 disease phenotype-associated
VAR_010620 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010621 commonName VAR_010621
VAR_010621 disease phenotype-associated
VAR_010621 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010622 commonName VAR_010622
VAR_010622 disease phenotype-associated
VAR_010622 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010623 commonName VAR_010623
VAR_010623 disease phenotype-associated
VAR_010623 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010626 commonName VAR_010626
VAR_010626 disease phenotype-associated
VAR_010626 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010627 commonName VAR_010627
VAR_010627 disease phenotype-associated
VAR_010627 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010628 commonName VAR_010628
VAR_010628 disease phenotype-associated
VAR_010628 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010629 commonName VAR_010629
VAR_010629 disease phenotype-associated
VAR_010629 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010630 commonName VAR_010630
VAR_010630 disease phenotype-associated
VAR_010630 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010631 commonName VAR_010631
VAR_010631 disease phenotype-associated
VAR_010631 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
VAR_010640 commonName VAR_010640
VAR_010640 disease not phenotype-associated
VAR_010641 commonName VAR_010641
VAR_010641 disease not phenotype-associated
VAR_010642 commonName VAR_010642
VAR_010642 disease phenotype-associated
VAR_010642 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100]
VAR_010643 commonName VAR_010643
VAR_010643 disease phenotype-associated
VAR_010643 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100]
VAR_010644 commonName VAR_010644
VAR_010644 disease phenotype-associated
VAR_010644 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100]
VAR_010645 commonName VAR_010645
VAR_010645 disease not phenotype-associated
VAR_010646 commonName VAR_010646
VAR_010646 disease not phenotype-associated
VAR_010647 commonName VAR_010647
VAR_010647 disease not phenotype-associated
VAR_010648 commonName VAR_010648
VAR_010648 disease phenotype-associated
VAR_010648 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_010649 commonName VAR_010649
VAR_010649 disease phenotype-associated
VAR_010649 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_010651 commonName VAR_010651
VAR_010651 disease phenotype-associated
VAR_010651 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_010652 commonName VAR_010652
VAR_010652 disease phenotype-associated
VAR_010652 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_010654 commonName VAR_010654
VAR_010654 disease phenotype-associated
VAR_010654 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624]
VAR_010657 commonName VAR_010657
VAR_010657 disease not phenotype-associated
VAR_010658 commonName VAR_010658
VAR_010658 disease phenotype-associated
VAR_010658 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_010659 commonName VAR_010659
VAR_010659 disease phenotype-associated
VAR_010659 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_010660 commonName VAR_010660
VAR_010660 disease not phenotype-associated
VAR_010661 commonName VAR_010661
VAR_010661 disease phenotype-associated
VAR_010661 phenoCommon Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]
VAR_010661 phenoCommon Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
VAR_010662 commonName VAR_010662
VAR_010662 disease not phenotype-associated
VAR_010663 commonName VAR_010663
VAR_010663 disease not phenotype-associated
VAR_010664 commonName VAR_010664
VAR_010664 disease not phenotype-associated
VAR_010665 commonName VAR_010665
VAR_010665 disease phenotype-associated
VAR_010665 phenoCommon Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
VAR_010666 comment CPT-resistant leukemia
VAR_010666 commonName VAR_010666
VAR_010667 comment CPT-resistant leukemia
VAR_010667 commonName VAR_010667
VAR_010668 commonName VAR_010668
VAR_010668 disease not phenotype-associated
VAR_010669 commonName VAR_010669
VAR_010669 disease not phenotype-associated
VAR_010670 commonName VAR_010670
VAR_010670 disease not phenotype-associated
VAR_010671 commonName VAR_010671
VAR_010671 disease phenotype-associated
VAR_010671 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_010672 commonName VAR_010672
VAR_010672 disease phenotype-associated
VAR_010672 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_010677 commonName VAR_010677
VAR_010677 disease phenotype-associated
VAR_010677 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010678 commonName VAR_010678
VAR_010678 disease phenotype-associated
VAR_010678 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010680 commonName VAR_010680
VAR_010680 disease phenotype-associated
VAR_010680 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010681 commonName VAR_010681
VAR_010681 disease phenotype-associated
VAR_010681 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010682 commonName VAR_010682
VAR_010682 disease phenotype-associated
VAR_010682 phenoCommon Cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750]
VAR_010683 commonName VAR_010683
VAR_010683 disease phenotype-associated
VAR_010683 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_010699 commonName VAR_010699
VAR_010699 disease not phenotype-associated
VAR_010700 commonName VAR_010700
VAR_010700 disease not phenotype-associated
VAR_010701 commonName VAR_010701
VAR_010701 disease not phenotype-associated
VAR_010702 commonName VAR_010702
VAR_010702 disease phenotype-associated
VAR_010702 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_010703 commonName VAR_010703
VAR_010703 disease phenotype-associated
VAR_010703 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_010704 commonName VAR_010704
VAR_010704 disease phenotype-associated
VAR_010704 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010705 commonName VAR_010705
VAR_010705 disease phenotype-associated
VAR_010705 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010706 commonName VAR_010706
VAR_010706 disease phenotype-associated
VAR_010706 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010707 commonName VAR_010707
VAR_010707 disease not phenotype-associated
VAR_010708 commonName VAR_010708
VAR_010708 disease not phenotype-associated
VAR_010709 commonName VAR_010709
VAR_010709 disease phenotype-associated
VAR_010709 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010710 commonName VAR_010710
VAR_010710 disease not phenotype-associated
VAR_010711 commonName VAR_010711
VAR_010711 disease phenotype-associated
VAR_010711 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010712 commonName VAR_010712
VAR_010712 disease phenotype-associated
VAR_010712 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010713 commonName VAR_010713
VAR_010713 disease phenotype-associated
VAR_010713 phenoCommon Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]
VAR_010715 commonName VAR_010715
VAR_010715 disease not phenotype-associated
VAR_010716 commonName VAR_010716
VAR_010716 disease not phenotype-associated
VAR_010717 commonName VAR_010717
VAR_010717 disease phenotype-associated
VAR_010717 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
VAR_010718 commonName VAR_010718
VAR_010718 disease phenotype-associated
VAR_010718 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
VAR_010719 commonName VAR_010719
VAR_010719 disease phenotype-associated
VAR_010719 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
VAR_010720 commonName VAR_010720
VAR_010720 disease not phenotype-associated
VAR_010721 commonName VAR_010721
VAR_010721 disease not phenotype-associated
VAR_010722 commonName VAR_010722
VAR_010722 disease not phenotype-associated
VAR_010723 commonName VAR_010723
VAR_010723 disease not phenotype-associated
VAR_010724 commonName VAR_010724
VAR_010724 disease phenotype-associated
VAR_010724 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_010725 comment Colon cancer
VAR_010725 commonName VAR_010725
VAR_010726 comment Colon cancer
VAR_010726 commonName VAR_010726
VAR_010727 commonName VAR_010727
VAR_010728 commonName VAR_010728
VAR_010729 commonName VAR_010729
VAR_010729 disease not phenotype-associated
VAR_010730 commonName VAR_010730
VAR_010731 commonName VAR_010731
VAR_010731 disease phenotype-associated
VAR_010731 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200]
VAR_010732 commonName VAR_010732
VAR_010732 disease phenotype-associated
VAR_010732 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200]
VAR_010733 commonName VAR_010733
VAR_010733 disease phenotype-associated
VAR_010733 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_010734 commonName VAR_010734
VAR_010735 commonName VAR_010735
VAR_010735 disease phenotype-associated
VAR_010735 phenoCommon Cataract crystalline aculeiform (CACA) [MIM:115700]
VAR_010738 commonName VAR_010738
VAR_010738 disease phenotype-associated
VAR_010738 phenoCommon Deafness autosomal recessive type 29 (DFNB29) [MIM:614035]
VAR_010739 commonName VAR_010739
VAR_010739 disease phenotype-associated
VAR_010739 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_010740 commonName VAR_010740
VAR_010740 disease phenotype-associated
VAR_010740 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_010741 commonName VAR_010741
VAR_010741 disease phenotype-associated
VAR_010741 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_010742 commonName VAR_010742
VAR_010742 disease phenotype-associated
VAR_010742 phenoCommon HyperCKmia (HYPCK) [MIM:123320]
VAR_010743 commonName VAR_010743
VAR_010743 disease not phenotype-associated
VAR_010744 commonName VAR_010744
VAR_010744 disease phenotype-associated
VAR_010744 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010745 commonName VAR_010745
VAR_010745 disease phenotype-associated
VAR_010745 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010746 commonName VAR_010746
VAR_010746 disease phenotype-associated
VAR_010746 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010747 commonName VAR_010747
VAR_010747 disease phenotype-associated
VAR_010747 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010748 commonName VAR_010748
VAR_010748 disease phenotype-associated
VAR_010748 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010749 commonName VAR_010749
VAR_010749 disease phenotype-associated
VAR_010749 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010750 commonName VAR_010750
VAR_010750 disease phenotype-associated
VAR_010750 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_010751 commonName VAR_010751
VAR_010751 disease not phenotype-associated
VAR_010752 commonName VAR_010752
VAR_010752 disease phenotype-associated
VAR_010752 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_010753 commonName VAR_010753
VAR_010753 disease phenotype-associated
VAR_010753 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_010754 commonName VAR_010754
VAR_010754 disease phenotype-associated
VAR_010754 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
VAR_010756 commonName VAR_010756
VAR_010756 disease phenotype-associated
VAR_010756 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500]
VAR_010757 commonName VAR_010757
VAR_010757 disease phenotype-associated
VAR_010757 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010759 commonName VAR_010759
VAR_010759 disease phenotype-associated
VAR_010759 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010760 commonName VAR_010760
VAR_010760 disease phenotype-associated
VAR_010760 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010761 commonName VAR_010761
VAR_010761 disease phenotype-associated
VAR_010761 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010762 commonName VAR_010762
VAR_010762 disease phenotype-associated
VAR_010762 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010763 commonName VAR_010763
VAR_010763 disease phenotype-associated
VAR_010763 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010764 commonName VAR_010764
VAR_010764 disease phenotype-associated
VAR_010764 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010765 commonName VAR_010765
VAR_010765 disease phenotype-associated
VAR_010765 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010766 commonName VAR_010766
VAR_010766 disease phenotype-associated
VAR_010766 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010767 commonName VAR_010767
VAR_010767 disease phenotype-associated
VAR_010767 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_010768 commonName VAR_010768
VAR_010768 disease phenotype-associated
VAR_010768 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010769 commonName VAR_010769
VAR_010769 disease phenotype-associated
VAR_010769 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010770 commonName VAR_010770
VAR_010770 disease phenotype-associated
VAR_010770 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010771 commonName VAR_010771
VAR_010771 disease phenotype-associated
VAR_010771 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010772 commonName VAR_010772
VAR_010772 disease phenotype-associated
VAR_010772 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010773 commonName VAR_010773
VAR_010773 disease not phenotype-associated
VAR_010774 commonName VAR_010774
VAR_010774 disease phenotype-associated
VAR_010774 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]
VAR_010781 commonName VAR_010781
VAR_010781 disease not phenotype-associated
VAR_010783 commonName VAR_010783
VAR_010783 disease not phenotype-associated
VAR_010784 commonName VAR_010784
VAR_010784 disease not phenotype-associated
VAR_010785 commonName VAR_010785
VAR_010785 disease phenotype-associated
VAR_010785 phenoCommon Parietal foramina 2 (PFM2) [MIM:609597]
VAR_010786 commonName VAR_010786
VAR_010786 disease phenotype-associated
VAR_010786 phenoCommon Parietal foramina 1 (PFM1) [MIM:168500]
VAR_010787 commonName VAR_010787
VAR_010787 disease not phenotype-associated
VAR_010788 commonName VAR_010788
VAR_010788 disease not phenotype-associated
VAR_010790 commonName VAR_010790
VAR_010790 disease not phenotype-associated
VAR_010791 commonName VAR_010791
VAR_010791 disease phenotype-associated
VAR_010791 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_010792 commonName VAR_010792
VAR_010792 disease phenotype-associated
VAR_010792 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]
VAR_010792 phenoCommon Epstein syndrome (EPS) [MIM:153650]
VAR_010792 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_010792 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_010792 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_010793 commonName VAR_010793
VAR_010793 disease phenotype-associated
VAR_010793 phenoCommon Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]
VAR_010794 commonName VAR_010794
VAR_010794 disease phenotype-associated
VAR_010794 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_010794 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_010795 commonName VAR_010795
VAR_010795 disease phenotype-associated
VAR_010795 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_010795 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_010796 commonName VAR_010796
VAR_010796 disease phenotype-associated
VAR_010796 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_010796 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_010797 commonName VAR_010797
VAR_010797 disease phenotype-associated
VAR_010797 phenoCommon Epstein syndrome (EPS) [MIM:153650]
VAR_010797 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_010797 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_010797 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_010798 commonName VAR_010798
VAR_010798 disease not phenotype-associated
VAR_010799 commonName VAR_010799
VAR_010799 disease not phenotype-associated
VAR_010800 commonName VAR_010800
VAR_010800 disease not phenotype-associated
VAR_010801 commonName VAR_010801
VAR_010801 disease phenotype-associated
VAR_010801 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010802 commonName VAR_010802
VAR_010802 disease phenotype-associated
VAR_010802 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010803 commonName VAR_010803
VAR_010803 disease phenotype-associated
VAR_010803 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010804 commonName VAR_010804
VAR_010804 disease phenotype-associated
VAR_010804 phenoCommon B-cell chronic lymphocytic leukemia (BCLL)
VAR_010805 commonName VAR_010805
VAR_010805 disease phenotype-associated
VAR_010805 phenoCommon B-cell chronic lymphocytic leukemia (BCLL)
VAR_010806 commonName VAR_010806
VAR_010806 disease phenotype-associated
VAR_010806 phenoCommon B-cell chronic lymphocytic leukemia (BCLL)
VAR_010807 commonName VAR_010807
VAR_010807 disease not phenotype-associated
VAR_010808 commonName VAR_010808
VAR_010808 disease phenotype-associated
VAR_010808 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010810 commonName VAR_010810
VAR_010810 disease not phenotype-associated
VAR_010812 commonName VAR_010812
VAR_010812 disease phenotype-associated
VAR_010812 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010813 commonName VAR_010813
VAR_010813 disease phenotype-associated
VAR_010813 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010814 commonName VAR_010814
VAR_010814 disease not phenotype-associated
VAR_010815 commonName VAR_010815
VAR_010815 disease phenotype-associated
VAR_010815 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010816 commonName VAR_010816
VAR_010816 disease phenotype-associated
VAR_010816 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010817 comment B-cell non-Hodgkin lymphoma
VAR_010817 commonName VAR_010817
VAR_010818 commonName VAR_010818
VAR_010818 disease not phenotype-associated
VAR_010819 commonName VAR_010819
VAR_010819 disease phenotype-associated
VAR_010819 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010820 commonName VAR_010820
VAR_010820 disease phenotype-associated
VAR_010820 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010821 comment T-prolymphocytic leukemia
VAR_010821 commonName VAR_010821
VAR_010822 commonName VAR_010822
VAR_010822 disease not phenotype-associated
VAR_010823 commonName VAR_010823
VAR_010823 disease phenotype-associated
VAR_010823 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010824 commonName VAR_010824
VAR_010824 disease not phenotype-associated
VAR_010825 comment B-cell non-Hodgkin lymphoma
VAR_010825 commonName VAR_010825
VAR_010826 commonName VAR_010826
VAR_010826 disease phenotype-associated
VAR_010826 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010827 commonName VAR_010827
VAR_010827 disease phenotype-associated
VAR_010827 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010828 commonName VAR_010828
VAR_010828 disease not phenotype-associated
VAR_010829 comment T-prolymphocytic leukemia
VAR_010829 commonName VAR_010829
VAR_010830 commonName VAR_010830
VAR_010830 disease phenotype-associated
VAR_010830 phenoCommon Ataxia telangiectasia (AT) [MIM:208900]
VAR_010830 phenoCommon B-cell chronic lymphocytic leukemia (BCLL)
VAR_010896 commonName VAR_010896
VAR_010896 disease not phenotype-associated
VAR_010897 commonName VAR_010897
VAR_010897 disease phenotype-associated
VAR_010897 phenoCommon Parietal foramina 2 (PFM2) [MIM:609597]
VAR_010898 commonName VAR_010898
VAR_010898 disease not phenotype-associated
VAR_010899 commonName VAR_010899
VAR_010899 disease phenotype-associated
VAR_010899 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_010901 commonName VAR_010901
VAR_010901 disease phenotype-associated
VAR_010901 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900]
VAR_010902 commonName VAR_010902
VAR_010902 disease not phenotype-associated
VAR_010903 commonName VAR_010903
VAR_010903 disease phenotype-associated
VAR_010903 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010904 commonName VAR_010904
VAR_010904 disease phenotype-associated
VAR_010904 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010905 commonName VAR_010905
VAR_010905 disease phenotype-associated
VAR_010905 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010906 commonName VAR_010906
VAR_010906 disease phenotype-associated
VAR_010906 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010907 commonName VAR_010907
VAR_010907 disease phenotype-associated
VAR_010907 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010908 commonName VAR_010908
VAR_010908 disease phenotype-associated
VAR_010908 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010909 commonName VAR_010909
VAR_010909 disease phenotype-associated
VAR_010909 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010910 commonName VAR_010910
VAR_010910 disease phenotype-associated
VAR_010910 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_010911 commonName VAR_010911
VAR_010911 disease phenotype-associated
VAR_010911 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010912 commonName VAR_010912
VAR_010912 disease not phenotype-associated
VAR_010913 commonName VAR_010913
VAR_010913 disease not phenotype-associated
VAR_010914 commonName VAR_010914
VAR_010914 disease phenotype-associated
VAR_010914 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_010915 commonName VAR_010915
VAR_010915 disease not phenotype-associated
VAR_010916 commonName VAR_010916
VAR_010916 disease not phenotype-associated
VAR_010919 commonName VAR_010919
VAR_010919 disease not phenotype-associated
VAR_010920 commonName VAR_010920
VAR_010920 disease not phenotype-associated
VAR_010921 commonName VAR_010921
VAR_010921 disease not phenotype-associated
VAR_010922 commonName VAR_010922
VAR_010922 disease not phenotype-associated
VAR_010923 commonName VAR_010923
VAR_010923 disease not phenotype-associated
VAR_010924 commonName VAR_010924
VAR_010924 disease not phenotype-associated
VAR_010925 commonName VAR_010925
VAR_010925 disease not phenotype-associated
VAR_010927 commonName VAR_010927
VAR_010927 disease not phenotype-associated
VAR_010928 commonName VAR_010928
VAR_010928 disease not phenotype-associated
VAR_010929 commonName VAR_010929
VAR_010929 disease phenotype-associated
VAR_010929 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_010930 commonName VAR_010930
VAR_010930 disease phenotype-associated
VAR_010930 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_010931 commonName VAR_010931
VAR_010931 disease phenotype-associated
VAR_010931 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_010932 commonName VAR_010932
VAR_010932 disease not phenotype-associated
VAR_010933 commonName VAR_010933
VAR_010933 disease phenotype-associated
VAR_010933 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_010935 commonName VAR_010935
VAR_010935 disease phenotype-associated
VAR_010935 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201]
VAR_010936 commonName VAR_010936
VAR_010936 disease phenotype-associated
VAR_010936 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_010937 commonName VAR_010937
VAR_010937 disease phenotype-associated
VAR_010937 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_010938 commonName VAR_010938
VAR_010938 disease not phenotype-associated
VAR_010939 commonName VAR_010939
VAR_010939 disease not phenotype-associated
VAR_010940 commonName VAR_010940
VAR_010940 disease not phenotype-associated
VAR_010941 commonName VAR_010941
VAR_010941 disease not phenotype-associated
VAR_010942 commonName VAR_010942
VAR_010942 disease not phenotype-associated
VAR_010943 commonName VAR_010943
VAR_010943 disease not phenotype-associated
VAR_010956 commonName VAR_010956
VAR_010956 disease phenotype-associated
VAR_010956 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010957 commonName VAR_010957
VAR_010957 disease phenotype-associated
VAR_010957 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010958 commonName VAR_010958
VAR_010958 disease not phenotype-associated
VAR_010959 commonName VAR_010959
VAR_010959 disease phenotype-associated
VAR_010959 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010960 commonName VAR_010960
VAR_010960 disease phenotype-associated
VAR_010960 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010961 commonName VAR_010961
VAR_010961 disease phenotype-associated
VAR_010961 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010962 commonName VAR_010962
VAR_010962 disease phenotype-associated
VAR_010962 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_010969 commonName VAR_010969
VAR_010969 disease phenotype-associated
VAR_010969 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_010971 commonName VAR_010971
VAR_010971 disease phenotype-associated
VAR_010971 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_010972 commonName VAR_010972
VAR_010972 disease phenotype-associated
VAR_010972 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_010973 commonName VAR_010973
VAR_010973 disease phenotype-associated
VAR_010973 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_010974 commonName VAR_010974
VAR_010974 disease phenotype-associated
VAR_010974 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010975 commonName VAR_010975
VAR_010975 disease phenotype-associated
VAR_010975 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010976 commonName VAR_010976
VAR_010976 disease phenotype-associated
VAR_010976 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010978 comment Squamous cell carcinoma
VAR_010978 commonName VAR_010978
VAR_010979 commonName VAR_010979
VAR_010979 disease phenotype-associated
VAR_010979 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010980 commonName VAR_010980
VAR_010980 disease phenotype-associated
VAR_010980 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010981 commonName VAR_010981
VAR_010981 disease phenotype-associated
VAR_010981 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_010982 comment Squamous cell carcinoma
VAR_010982 commonName VAR_010982
VAR_010985 commonName VAR_010985
VAR_010985 disease phenotype-associated
VAR_010985 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_010986 commonName VAR_010986
VAR_010986 disease phenotype-associated
VAR_010986 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_010987 commonName VAR_010987
VAR_010987 disease phenotype-associated
VAR_010987 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_010988 commonName VAR_010988
VAR_010988 disease phenotype-associated
VAR_010988 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_010989 commonName VAR_010989
VAR_010989 disease phenotype-associated
VAR_010989 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010990 commonName VAR_010990
VAR_010990 disease phenotype-associated
VAR_010990 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010991 commonName VAR_010991
VAR_010991 disease phenotype-associated
VAR_010991 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010992 commonName VAR_010992
VAR_010992 disease phenotype-associated
VAR_010992 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010993 commonName VAR_010993
VAR_010993 disease phenotype-associated
VAR_010993 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010994 commonName VAR_010994
VAR_010994 disease phenotype-associated
VAR_010994 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010995 commonName VAR_010995
VAR_010995 disease phenotype-associated
VAR_010995 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010996 commonName VAR_010996
VAR_010996 disease phenotype-associated
VAR_010996 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010997 commonName VAR_010997
VAR_010997 disease phenotype-associated
VAR_010997 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010998 commonName VAR_010998
VAR_010998 disease phenotype-associated
VAR_010998 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_010999 commonName VAR_010999
VAR_010999 disease phenotype-associated
VAR_010999 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_011000 commonName VAR_011000
VAR_011000 disease phenotype-associated
VAR_011000 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_011001 commonName VAR_011001
VAR_011001 disease phenotype-associated
VAR_011001 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011002 commonName VAR_011002
VAR_011002 disease phenotype-associated
VAR_011002 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011003 commonName VAR_011003
VAR_011003 disease phenotype-associated
VAR_011003 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011004 commonName VAR_011004
VAR_011004 disease phenotype-associated
VAR_011004 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011005 commonName VAR_011005
VAR_011005 disease phenotype-associated
VAR_011005 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011006 commonName VAR_011006
VAR_011006 disease phenotype-associated
VAR_011006 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011007 commonName VAR_011007
VAR_011007 disease phenotype-associated
VAR_011007 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011008 commonName VAR_011008
VAR_011008 disease phenotype-associated
VAR_011008 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011009 commonName VAR_011009
VAR_011009 disease phenotype-associated
VAR_011009 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011010 commonName VAR_011010
VAR_011010 disease phenotype-associated
VAR_011010 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011011 commonName VAR_011011
VAR_011011 disease phenotype-associated
VAR_011011 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011012 commonName VAR_011012
VAR_011012 disease phenotype-associated
VAR_011012 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011013 commonName VAR_011013
VAR_011013 disease phenotype-associated
VAR_011013 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011014 commonName VAR_011014
VAR_011014 disease phenotype-associated
VAR_011014 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011015 commonName VAR_011015
VAR_011015 disease phenotype-associated
VAR_011015 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011016 commonName VAR_011016
VAR_011016 disease phenotype-associated
VAR_011016 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011017 commonName VAR_011017
VAR_011017 disease phenotype-associated
VAR_011017 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011018 commonName VAR_011018
VAR_011018 disease phenotype-associated
VAR_011018 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011020 commonName VAR_011020
VAR_011020 disease phenotype-associated
VAR_011020 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011021 commonName VAR_011021
VAR_011021 disease phenotype-associated
VAR_011021 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011022 commonName VAR_011022
VAR_011022 disease phenotype-associated
VAR_011022 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011023 commonName VAR_011023
VAR_011023 disease phenotype-associated
VAR_011023 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011024 commonName VAR_011024
VAR_011024 disease phenotype-associated
VAR_011024 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011025 commonName VAR_011025
VAR_011025 disease phenotype-associated
VAR_011025 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_011030 commonName VAR_011030
VAR_011030 disease phenotype-associated
VAR_011030 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011031 commonName VAR_011031
VAR_011031 disease phenotype-associated
VAR_011031 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011032 commonName VAR_011032
VAR_011032 disease phenotype-associated
VAR_011032 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011033 commonName VAR_011033
VAR_011033 disease phenotype-associated
VAR_011033 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011034 commonName VAR_011034
VAR_011034 disease phenotype-associated
VAR_011034 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011036 commonName VAR_011036
VAR_011036 disease not phenotype-associated
VAR_011038 commonName VAR_011038
VAR_011039 commonName VAR_011039
VAR_011040 commonName VAR_011040
VAR_011040 disease phenotype-associated
VAR_011040 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011041 commonName VAR_011041
VAR_011041 disease phenotype-associated
VAR_011041 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011042 commonName VAR_011042
VAR_011042 disease phenotype-associated
VAR_011042 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011044 commonName VAR_011044
VAR_011044 disease not phenotype-associated
VAR_011045 commonName VAR_011045
VAR_011045 disease not phenotype-associated
VAR_011046 commonName VAR_011046
VAR_011046 disease not phenotype-associated
VAR_011047 commonName VAR_011047
VAR_011047 disease not phenotype-associated
VAR_011048 commonName VAR_011048
VAR_011048 disease not phenotype-associated
VAR_011049 commonName VAR_011049
VAR_011049 disease phenotype-associated
VAR_011049 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011051 commonName VAR_011051
VAR_011051 disease not phenotype-associated
VAR_011052 commonName VAR_011052
VAR_011052 disease phenotype-associated
VAR_011052 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011053 commonName VAR_011053
VAR_011053 disease phenotype-associated
VAR_011053 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011054 commonName VAR_011054
VAR_011054 disease not phenotype-associated
VAR_011055 commonName VAR_011055
VAR_011055 disease phenotype-associated
VAR_011055 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011056 commonName VAR_011056
VAR_011056 disease phenotype-associated
VAR_011056 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011057 commonName VAR_011057
VAR_011057 disease phenotype-associated
VAR_011057 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011058 commonName VAR_011058
VAR_011058 disease not phenotype-associated
VAR_011059 commonName VAR_011059
VAR_011059 disease not phenotype-associated
VAR_011060 commonName VAR_011060
VAR_011060 disease phenotype-associated
VAR_011060 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011061 commonName VAR_011061
VAR_011061 disease not phenotype-associated
VAR_011063 commonName VAR_011063
VAR_011063 disease phenotype-associated
VAR_011063 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011064 commonName VAR_011064
VAR_011064 disease not phenotype-associated
VAR_011065 commonName VAR_011065
VAR_011065 disease not phenotype-associated
VAR_011066 commonName VAR_011066
VAR_011066 disease not phenotype-associated
VAR_011067 commonName VAR_011067
VAR_011067 disease phenotype-associated
VAR_011067 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011068 commonName VAR_011068
VAR_011068 disease phenotype-associated
VAR_011068 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011069 commonName VAR_011069
VAR_011069 disease phenotype-associated
VAR_011069 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011070 commonName VAR_011070
VAR_011070 disease phenotype-associated
VAR_011070 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_011072 commonName VAR_011072
VAR_011072 disease not phenotype-associated
VAR_011073 commonName VAR_011073
VAR_011073 disease phenotype-associated
VAR_011073 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_011077 commonName VAR_011077
VAR_011077 disease phenotype-associated
VAR_011077 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_011078 commonName VAR_011078
VAR_011078 disease phenotype-associated
VAR_011078 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_011079 commonName VAR_011079
VAR_011079 disease phenotype-associated
VAR_011079 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_011080 commonName VAR_011080
VAR_011080 disease phenotype-associated
VAR_011080 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_011081 commonName VAR_011081
VAR_011081 disease phenotype-associated
VAR_011081 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011082 commonName VAR_011082
VAR_011082 disease phenotype-associated
VAR_011082 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011083 commonName VAR_011083
VAR_011083 disease phenotype-associated
VAR_011083 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011084 commonName VAR_011084
VAR_011084 disease phenotype-associated
VAR_011084 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011085 commonName VAR_011085
VAR_011085 disease phenotype-associated
VAR_011085 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011086 commonName VAR_011086
VAR_011086 disease phenotype-associated
VAR_011086 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011087 commonName VAR_011087
VAR_011087 disease phenotype-associated
VAR_011087 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011088 commonName VAR_011088
VAR_011088 disease phenotype-associated
VAR_011088 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011089 commonName VAR_011089
VAR_011089 disease phenotype-associated
VAR_011089 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011090 commonName VAR_011090
VAR_011090 disease phenotype-associated
VAR_011090 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011091 commonName VAR_011091
VAR_011091 disease phenotype-associated
VAR_011091 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011092 commonName VAR_011092
VAR_011092 disease phenotype-associated
VAR_011092 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011093 commonName VAR_011093
VAR_011093 disease phenotype-associated
VAR_011093 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_011094 commonName VAR_011094
VAR_011094 disease not phenotype-associated
VAR_011095 commonName VAR_011095
VAR_011095 disease phenotype-associated
VAR_011095 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011096 commonName VAR_011096
VAR_011096 disease phenotype-associated
VAR_011096 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011097 commonName VAR_011097
VAR_011097 disease phenotype-associated
VAR_011097 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011098 commonName VAR_011098
VAR_011098 disease phenotype-associated
VAR_011098 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011099 commonName VAR_011099
VAR_011099 disease phenotype-associated
VAR_011099 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011100 commonName VAR_011100
VAR_011100 disease phenotype-associated
VAR_011100 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011101 commonName VAR_011101
VAR_011101 disease phenotype-associated
VAR_011101 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011102 commonName VAR_011102
VAR_011102 disease phenotype-associated
VAR_011102 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011103 commonName VAR_011103
VAR_011103 disease phenotype-associated
VAR_011103 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011104 commonName VAR_011104
VAR_011104 disease phenotype-associated
VAR_011104 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011105 commonName VAR_011105
VAR_011105 disease phenotype-associated
VAR_011105 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011106 commonName VAR_011106
VAR_011106 disease phenotype-associated
VAR_011106 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011107 commonName VAR_011107
VAR_011107 disease phenotype-associated
VAR_011107 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011108 commonName VAR_011108
VAR_011108 disease phenotype-associated
VAR_011108 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011109 commonName VAR_011109
VAR_011109 disease phenotype-associated
VAR_011109 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011110 commonName VAR_011110
VAR_011110 disease phenotype-associated
VAR_011110 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011111 commonName VAR_011111
VAR_011111 disease phenotype-associated
VAR_011111 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011112 commonName VAR_011112
VAR_011112 disease phenotype-associated
VAR_011112 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011113 commonName VAR_011113
VAR_011113 disease phenotype-associated
VAR_011113 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011114 commonName VAR_011114
VAR_011114 disease phenotype-associated
VAR_011114 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011115 commonName VAR_011115
VAR_011115 disease phenotype-associated
VAR_011115 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011116 commonName VAR_011116
VAR_011116 disease phenotype-associated
VAR_011116 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011117 commonName VAR_011117
VAR_011117 disease phenotype-associated
VAR_011117 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011118 commonName VAR_011118
VAR_011118 disease phenotype-associated
VAR_011118 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011119 commonName VAR_011119
VAR_011119 disease phenotype-associated
VAR_011119 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011120 commonName VAR_011120
VAR_011120 disease phenotype-associated
VAR_011120 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011121 commonName VAR_011121
VAR_011121 disease phenotype-associated
VAR_011121 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011122 commonName VAR_011122
VAR_011122 disease phenotype-associated
VAR_011122 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011123 commonName VAR_011123
VAR_011123 disease phenotype-associated
VAR_011123 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011124 commonName VAR_011124
VAR_011124 disease phenotype-associated
VAR_011124 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011125 commonName VAR_011125
VAR_011125 disease phenotype-associated
VAR_011125 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011126 commonName VAR_011126
VAR_011126 disease phenotype-associated
VAR_011126 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011127 commonName VAR_011127
VAR_011127 disease not phenotype-associated
VAR_011128 commonName VAR_011128
VAR_011128 disease phenotype-associated
VAR_011128 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011129 commonName VAR_011129
VAR_011129 disease phenotype-associated
VAR_011129 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011130 commonName VAR_011130
VAR_011130 disease phenotype-associated
VAR_011130 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011131 commonName VAR_011131
VAR_011131 disease phenotype-associated
VAR_011131 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011132 commonName VAR_011132
VAR_011132 disease phenotype-associated
VAR_011132 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011133 commonName VAR_011133
VAR_011133 disease phenotype-associated
VAR_011133 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011134 commonName VAR_011134
VAR_011134 disease phenotype-associated
VAR_011134 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011135 commonName VAR_011135
VAR_011135 disease phenotype-associated
VAR_011135 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011136 commonName VAR_011136
VAR_011136 disease phenotype-associated
VAR_011136 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011137 commonName VAR_011137
VAR_011137 disease phenotype-associated
VAR_011137 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011138 commonName VAR_011138
VAR_011138 disease phenotype-associated
VAR_011138 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011139 commonName VAR_011139
VAR_011139 disease phenotype-associated
VAR_011139 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011140 commonName VAR_011140
VAR_011140 disease phenotype-associated
VAR_011140 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011141 commonName VAR_011141
VAR_011141 disease phenotype-associated
VAR_011141 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011142 commonName VAR_011142
VAR_011142 disease phenotype-associated
VAR_011142 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011143 commonName VAR_011143
VAR_011143 disease phenotype-associated
VAR_011143 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011144 commonName VAR_011144
VAR_011144 disease phenotype-associated
VAR_011144 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011145 commonName VAR_011145
VAR_011145 disease phenotype-associated
VAR_011145 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011146 commonName VAR_011146
VAR_011146 disease phenotype-associated
VAR_011146 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011147 commonName VAR_011147
VAR_011147 disease phenotype-associated
VAR_011147 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011148 commonName VAR_011148
VAR_011148 disease phenotype-associated
VAR_011148 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011149 commonName VAR_011149
VAR_011149 disease phenotype-associated
VAR_011149 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011150 commonName VAR_011150
VAR_011150 disease phenotype-associated
VAR_011150 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011151 commonName VAR_011151
VAR_011151 disease phenotype-associated
VAR_011151 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011152 commonName VAR_011152
VAR_011152 disease phenotype-associated
VAR_011152 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011153 commonName VAR_011153
VAR_011153 disease phenotype-associated
VAR_011153 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011154 commonName VAR_011154
VAR_011154 disease phenotype-associated
VAR_011154 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011155 commonName VAR_011155
VAR_011155 disease phenotype-associated
VAR_011155 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011156 commonName VAR_011156
VAR_011156 disease phenotype-associated
VAR_011156 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011157 commonName VAR_011157
VAR_011157 disease phenotype-associated
VAR_011157 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011158 commonName VAR_011158
VAR_011158 disease phenotype-associated
VAR_011158 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011159 commonName VAR_011159
VAR_011159 disease phenotype-associated
VAR_011159 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_011160 commonName VAR_011160
VAR_011160 disease phenotype-associated
VAR_011160 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011161 commonName VAR_011161
VAR_011161 disease phenotype-associated
VAR_011161 phenoCommon Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
VAR_011162 commonName VAR_011162
VAR_011162 disease phenotype-associated
VAR_011162 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011163 commonName VAR_011163
VAR_011163 disease phenotype-associated
VAR_011163 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011164 commonName VAR_011164
VAR_011164 disease phenotype-associated
VAR_011164 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011165 commonName VAR_011165
VAR_011165 disease phenotype-associated
VAR_011165 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011166 commonName VAR_011166
VAR_011166 disease phenotype-associated
VAR_011166 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011167 commonName VAR_011167
VAR_011167 disease phenotype-associated
VAR_011167 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011168 commonName VAR_011168
VAR_011168 disease phenotype-associated
VAR_011168 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
VAR_011169 commonName VAR_011169
VAR_011169 disease phenotype-associated
VAR_011169 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011170 commonName VAR_011170
VAR_011170 disease phenotype-associated
VAR_011170 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011171 commonName VAR_011171
VAR_011171 disease phenotype-associated
VAR_011171 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011172 commonName VAR_011172
VAR_011172 disease phenotype-associated
VAR_011172 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
VAR_011173 commonName VAR_011173
VAR_011173 disease phenotype-associated
VAR_011173 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011174 commonName VAR_011174
VAR_011174 disease phenotype-associated
VAR_011174 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011175 commonName VAR_011175
VAR_011175 disease phenotype-associated
VAR_011175 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011176 commonName VAR_011176
VAR_011176 disease phenotype-associated
VAR_011176 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011176 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
VAR_011177 commonName VAR_011177
VAR_011177 disease phenotype-associated
VAR_011177 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011178 commonName VAR_011178
VAR_011178 disease phenotype-associated
VAR_011178 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011179 commonName VAR_011179
VAR_011179 disease phenotype-associated
VAR_011179 phenoCommon Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
VAR_011180 commonName VAR_011180
VAR_011180 disease phenotype-associated
VAR_011180 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011181 commonName VAR_011181
VAR_011181 disease phenotype-associated
VAR_011181 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011182 commonName VAR_011182
VAR_011182 disease phenotype-associated
VAR_011182 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011183 commonName VAR_011183
VAR_011183 disease phenotype-associated
VAR_011183 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011184 commonName VAR_011184
VAR_011184 disease phenotype-associated
VAR_011184 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011185 commonName VAR_011185
VAR_011185 disease phenotype-associated
VAR_011185 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011186 commonName VAR_011186
VAR_011186 disease phenotype-associated
VAR_011186 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011187 commonName VAR_011187
VAR_011187 disease phenotype-associated
VAR_011187 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011188 commonName VAR_011188
VAR_011188 disease phenotype-associated
VAR_011188 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011189 commonName VAR_011189
VAR_011189 disease phenotype-associated
VAR_011189 phenoCommon Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
VAR_011190 commonName VAR_011190
VAR_011190 disease phenotype-associated
VAR_011190 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011191 commonName VAR_011191
VAR_011191 disease not phenotype-associated
VAR_011192 commonName VAR_011192
VAR_011193 commonName VAR_011193
VAR_011194 commonName VAR_011194
VAR_011194 disease phenotype-associated
VAR_011194 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011195 commonName VAR_011195
VAR_011195 disease phenotype-associated
VAR_011195 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
VAR_011196 commonName VAR_011196
VAR_011196 disease phenotype-associated
VAR_011196 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011197 commonName VAR_011197
VAR_011197 disease phenotype-associated
VAR_011197 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011198 commonName VAR_011198
VAR_011198 disease phenotype-associated
VAR_011198 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
VAR_011199 commonName VAR_011199
VAR_011199 disease phenotype-associated
VAR_011199 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011200 commonName VAR_011200
VAR_011200 disease phenotype-associated
VAR_011200 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_011201 commonName VAR_011201
VAR_011201 disease phenotype-associated
VAR_011201 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_011202 commonName VAR_011202
VAR_011202 disease not phenotype-associated
VAR_011203 commonName VAR_011203
VAR_011203 disease not phenotype-associated
VAR_011204 commonName VAR_011204
VAR_011204 disease phenotype-associated
VAR_011204 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011205 commonName VAR_011205
VAR_011205 disease not phenotype-associated
VAR_011206 commonName VAR_011206
VAR_011206 disease phenotype-associated
VAR_011206 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011207 commonName VAR_011207
VAR_011207 disease not phenotype-associated
VAR_011208 commonName VAR_011208
VAR_011208 disease not phenotype-associated
VAR_011209 commonName VAR_011209
VAR_011209 disease not phenotype-associated
VAR_011210 commonName VAR_011210
VAR_011210 disease phenotype-associated
VAR_011210 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011211 commonName VAR_011211
VAR_011211 disease phenotype-associated
VAR_011211 phenoCommon Alport syndrome autosomal dominant (APSAD) [MIM:104200]
VAR_011212 commonName VAR_011212
VAR_011212 disease phenotype-associated
VAR_011212 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011213 commonName VAR_011213
VAR_011214 commonName VAR_011214
VAR_011214 disease not phenotype-associated
VAR_011215 commonName VAR_011215
VAR_011215 disease phenotype-associated
VAR_011215 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011216 commonName VAR_011216
VAR_011217 commonName VAR_011217
VAR_011217 disease phenotype-associated
VAR_011217 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011218 commonName VAR_011218
VAR_011219 commonName VAR_011219
VAR_011219 disease phenotype-associated
VAR_011219 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_011292 commonName VAR_011292
VAR_011292 disease not phenotype-associated
VAR_011293 commonName VAR_011293
VAR_011293 disease phenotype-associated
VAR_011293 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011294 commonName VAR_011294
VAR_011294 disease phenotype-associated
VAR_011294 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011295 commonName VAR_011295
VAR_011295 disease phenotype-associated
VAR_011295 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011296 commonName VAR_011296
VAR_011296 disease phenotype-associated
VAR_011296 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011297 commonName VAR_011297
VAR_011297 disease phenotype-associated
VAR_011297 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011298 commonName VAR_011298
VAR_011298 disease not phenotype-associated
VAR_011299 commonName VAR_011299
VAR_011299 disease phenotype-associated
VAR_011299 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_011300 commonName VAR_011300
VAR_011300 disease not phenotype-associated
VAR_011301 commonName VAR_011301
VAR_011301 disease phenotype-associated
VAR_011301 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
VAR_011302 commonName VAR_011302
VAR_011302 disease not phenotype-associated
VAR_011303 commonName VAR_011303
VAR_011303 disease not phenotype-associated
VAR_011304 commonName VAR_011304
VAR_011304 disease not phenotype-associated
VAR_011305 commonName VAR_011305
VAR_011305 disease phenotype-associated
VAR_011305 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_011306 commonName VAR_011306
VAR_011306 disease phenotype-associated
VAR_011306 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_011308 commonName VAR_011308
VAR_011308 disease phenotype-associated
VAR_011308 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_011309 commonName VAR_011309
VAR_011309 disease not phenotype-associated
VAR_011310 commonName VAR_011310
VAR_011310 disease phenotype-associated
VAR_011310 phenoCommon Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]
VAR_011311 commonName VAR_011311
VAR_011311 disease not phenotype-associated
VAR_011315 commonName VAR_011315
VAR_011315 disease not phenotype-associated
VAR_011316 commonName VAR_011316
VAR_011316 disease not phenotype-associated
VAR_011317 commonName VAR_011317
VAR_011317 disease not phenotype-associated
VAR_011318 commonName VAR_011318
VAR_011318 disease phenotype-associated
VAR_011318 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_011319 commonName VAR_011319
VAR_011319 disease phenotype-associated
VAR_011319 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_011320 commonName VAR_011320
VAR_011320 disease phenotype-associated
VAR_011320 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011321 commonName VAR_011321
VAR_011321 disease phenotype-associated
VAR_011321 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011322 commonName VAR_011322
VAR_011322 disease phenotype-associated
VAR_011322 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011323 commonName VAR_011323
VAR_011323 disease phenotype-associated
VAR_011323 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011324 commonName VAR_011324
VAR_011324 disease phenotype-associated
VAR_011324 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011325 commonName VAR_011325
VAR_011325 disease phenotype-associated
VAR_011325 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011326 commonName VAR_011326
VAR_011326 disease phenotype-associated
VAR_011326 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_011327 commonName VAR_011327
VAR_011327 disease phenotype-associated
VAR_011327 phenoCommon Hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900]
VAR_011328 commonName VAR_011328
VAR_011328 disease not phenotype-associated
VAR_011331 commonName VAR_011331
VAR_011331 disease phenotype-associated
VAR_011331 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
VAR_011332 commonName VAR_011332
VAR_011332 disease phenotype-associated
VAR_011332 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
VAR_011333 commonName VAR_011333
VAR_011333 disease phenotype-associated
VAR_011333 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
VAR_011334 commonName VAR_011334
VAR_011334 disease phenotype-associated
VAR_011334 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624]
VAR_011335 commonName VAR_011335
VAR_011335 disease phenotype-associated
VAR_011335 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624]
VAR_011360 commonName VAR_011360
VAR_011360 disease not phenotype-associated
VAR_011361 commonName VAR_011361
VAR_011361 disease phenotype-associated
VAR_011361 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011361 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
VAR_011362 commonName VAR_011362
VAR_011362 disease phenotype-associated
VAR_011362 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011363 commonName VAR_011363
VAR_011363 disease phenotype-associated
VAR_011363 phenoCommon Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500]
VAR_011364 commonName VAR_011364
VAR_011364 disease phenotype-associated
VAR_011364 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011365 commonName VAR_011365
VAR_011365 disease phenotype-associated
VAR_011365 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011365 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
VAR_011366 commonName VAR_011366
VAR_011366 disease phenotype-associated
VAR_011366 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011367 commonName VAR_011367
VAR_011367 disease phenotype-associated
VAR_011367 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_011368 commonName VAR_011368
VAR_011368 disease phenotype-associated
VAR_011368 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]
VAR_011369 commonName VAR_011369
VAR_011369 disease not phenotype-associated
VAR_011374 commonName VAR_011374
VAR_011374 disease not phenotype-associated
VAR_011375 comment A colorectal carcinoma sample
VAR_011375 commonName VAR_011375
VAR_011377 comment A colorectal carcinoma sample
VAR_011377 commonName VAR_011377
VAR_011378 comment A colorectal carcinoma sample
VAR_011378 commonName VAR_011378
VAR_011379 comment A colorectal carcinoma sample
VAR_011379 commonName VAR_011379
VAR_011381 comment Colorectal cancer
VAR_011381 commonName VAR_011381
VAR_011382 comment Colorectal cancer
VAR_011382 commonName VAR_011382
VAR_011383 commonName VAR_011383
VAR_011383 disease not phenotype-associated
VAR_011384 commonName VAR_011384
VAR_011384 disease not phenotype-associated
VAR_011385 commonName VAR_011385
VAR_011385 disease not phenotype-associated
VAR_011386 commonName VAR_011386
VAR_011386 disease not phenotype-associated
VAR_011389 commonName VAR_011389
VAR_011389 disease phenotype-associated
VAR_011389 phenoCommon Infantile Refsum disease (IRD) [MIM:266510]
VAR_011390 commonName VAR_011390
VAR_011390 disease not phenotype-associated
VAR_011392 commonName VAR_011392
VAR_011392 disease phenotype-associated
VAR_011392 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400]
VAR_011393 commonName VAR_011393
VAR_011393 disease phenotype-associated
VAR_011393 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400]
VAR_011394 commonName VAR_011394
VAR_011394 disease phenotype-associated
VAR_011394 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400]
VAR_011395 commonName VAR_011395
VAR_011395 disease phenotype-associated
VAR_011395 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011395 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]
VAR_011396 commonName VAR_011396
VAR_011396 disease phenotype-associated
VAR_011396 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011397 commonName VAR_011397
VAR_011397 disease phenotype-associated
VAR_011397 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011398 commonName VAR_011398
VAR_011398 disease phenotype-associated
VAR_011398 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011398 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]
VAR_011399 commonName VAR_011399
VAR_011399 disease phenotype-associated
VAR_011399 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011400 commonName VAR_011400
VAR_011400 disease phenotype-associated
VAR_011400 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011401 commonName VAR_011401
VAR_011401 disease phenotype-associated
VAR_011401 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011402 commonName VAR_011402
VAR_011402 disease phenotype-associated
VAR_011402 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011403 commonName VAR_011403
VAR_011403 disease phenotype-associated
VAR_011403 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_011404 commonName VAR_011404
VAR_011404 disease not phenotype-associated
VAR_011405 commonName VAR_011405
VAR_011405 disease not phenotype-associated
VAR_011406 commonName VAR_011406
VAR_011406 disease not phenotype-associated
VAR_011408 commonName VAR_011408
VAR_011408 disease phenotype-associated
VAR_011408 phenoCommon Wolcott-Rallison syndrome (WRS) [MIM:226980]
VAR_011409 commonName VAR_011409
VAR_011409 disease not phenotype-associated
VAR_011410 commonName VAR_011410
VAR_011410 disease not phenotype-associated
VAR_011411 commonName VAR_011411
VAR_011411 disease not phenotype-associated
VAR_011412 commonName VAR_011412
VAR_011412 disease not phenotype-associated
VAR_011413 commonName VAR_011413
VAR_011413 disease not phenotype-associated
VAR_011414 commonName VAR_011414
VAR_011414 disease not phenotype-associated
VAR_011415 commonName VAR_011415
VAR_011415 disease not phenotype-associated
VAR_011417 commonName VAR_011417
VAR_011417 disease not phenotype-associated
VAR_011418 commonName VAR_011418
VAR_011418 disease not phenotype-associated
VAR_011420 commonName VAR_011420
VAR_011420 disease phenotype-associated
VAR_011420 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_011421 commonName VAR_011421
VAR_011421 disease phenotype-associated
VAR_011421 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_011422 commonName VAR_011422
VAR_011422 disease phenotype-associated
VAR_011422 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_011423 commonName VAR_011423
VAR_011423 disease phenotype-associated
VAR_011423 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_011424 commonName VAR_011424
VAR_011424 disease phenotype-associated
VAR_011424 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_011435 commonName VAR_011435
VAR_011435 disease phenotype-associated
VAR_011435 phenoCommon Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]
VAR_011436 commonName VAR_011436
VAR_011436 disease phenotype-associated
VAR_011436 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011437 commonName VAR_011437
VAR_011437 disease phenotype-associated
VAR_011437 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011438 commonName VAR_011438
VAR_011438 disease phenotype-associated
VAR_011438 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011439 commonName VAR_011439
VAR_011439 disease phenotype-associated
VAR_011439 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011440 commonName VAR_011440
VAR_011440 disease phenotype-associated
VAR_011440 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011441 commonName VAR_011441
VAR_011441 disease phenotype-associated
VAR_011441 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011442 commonName VAR_011442
VAR_011442 disease phenotype-associated
VAR_011442 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011443 commonName VAR_011443
VAR_011443 disease phenotype-associated
VAR_011443 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011444 commonName VAR_011444
VAR_011444 disease phenotype-associated
VAR_011444 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011445 commonName VAR_011445
VAR_011445 disease phenotype-associated
VAR_011445 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011446 commonName VAR_011446
VAR_011446 disease phenotype-associated
VAR_011446 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011447 commonName VAR_011447
VAR_011447 disease phenotype-associated
VAR_011447 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011448 commonName VAR_011448
VAR_011448 disease phenotype-associated
VAR_011448 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011449 commonName VAR_011449
VAR_011449 disease phenotype-associated
VAR_011449 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011450 commonName VAR_011450
VAR_011450 disease phenotype-associated
VAR_011450 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011451 commonName VAR_011451
VAR_011451 disease phenotype-associated
VAR_011451 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011452 commonName VAR_011452
VAR_011452 disease phenotype-associated
VAR_011452 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011453 commonName VAR_011453
VAR_011453 disease phenotype-associated
VAR_011453 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011454 commonName VAR_011454
VAR_011454 disease phenotype-associated
VAR_011454 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011455 commonName VAR_011455
VAR_011455 disease phenotype-associated
VAR_011455 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011456 commonName VAR_011456
VAR_011456 disease phenotype-associated
VAR_011456 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011458 commonName VAR_011458
VAR_011458 disease phenotype-associated
VAR_011458 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011459 commonName VAR_011459
VAR_011459 disease phenotype-associated
VAR_011459 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011460 commonName VAR_011460
VAR_011460 disease phenotype-associated
VAR_011460 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011461 commonName VAR_011461
VAR_011461 disease phenotype-associated
VAR_011461 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011462 commonName VAR_011462
VAR_011462 disease phenotype-associated
VAR_011462 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011463 commonName VAR_011463
VAR_011463 disease phenotype-associated
VAR_011463 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011464 commonName VAR_011464
VAR_011464 disease phenotype-associated
VAR_011464 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011465 commonName VAR_011465
VAR_011465 disease phenotype-associated
VAR_011465 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011466 commonName VAR_011466
VAR_011466 disease phenotype-associated
VAR_011466 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011467 commonName VAR_011467
VAR_011467 disease phenotype-associated
VAR_011467 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011468 commonName VAR_011468
VAR_011468 disease phenotype-associated
VAR_011468 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011469 commonName VAR_011469
VAR_011469 disease phenotype-associated
VAR_011469 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011470 commonName VAR_011470
VAR_011470 disease phenotype-associated
VAR_011470 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011471 commonName VAR_011471
VAR_011471 disease phenotype-associated
VAR_011471 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011472 commonName VAR_011472
VAR_011472 disease phenotype-associated
VAR_011472 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011473 commonName VAR_011473
VAR_011473 disease phenotype-associated
VAR_011473 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011474 commonName VAR_011474
VAR_011474 disease phenotype-associated
VAR_011474 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011475 commonName VAR_011475
VAR_011475 disease phenotype-associated
VAR_011475 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011476 commonName VAR_011476
VAR_011476 disease phenotype-associated
VAR_011476 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011477 commonName VAR_011477
VAR_011477 disease phenotype-associated
VAR_011477 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011478 commonName VAR_011478
VAR_011478 disease phenotype-associated
VAR_011478 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011479 commonName VAR_011479
VAR_011479 disease phenotype-associated
VAR_011479 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011480 commonName VAR_011480
VAR_011480 disease phenotype-associated
VAR_011480 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011481 commonName VAR_011481
VAR_011481 disease phenotype-associated
VAR_011481 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011482 commonName VAR_011482
VAR_011482 disease phenotype-associated
VAR_011482 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_011483 commonName VAR_011483
VAR_011483 disease phenotype-associated
VAR_011483 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_011484 commonName VAR_011484
VAR_011484 disease phenotype-associated
VAR_011484 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_011486 commonName VAR_011486
VAR_011486 disease not phenotype-associated
VAR_011488 commonName VAR_011488
VAR_011488 disease not phenotype-associated
VAR_011489 commonName VAR_011489
VAR_011489 disease not phenotype-associated
VAR_011490 commonName VAR_011490
VAR_011490 disease not phenotype-associated
VAR_011491 commonName VAR_011491
VAR_011491 disease phenotype-associated
VAR_011491 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_011492 commonName VAR_011492
VAR_011492 disease phenotype-associated
VAR_011492 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_011493 commonName VAR_011493
VAR_011493 disease phenotype-associated
VAR_011493 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_011494 commonName VAR_011494
VAR_011494 disease not phenotype-associated
VAR_011495 commonName VAR_011495
VAR_011495 disease phenotype-associated
VAR_011495 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_011495 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_011496 commonName VAR_011496
VAR_011496 disease not phenotype-associated
VAR_011497 commonName VAR_011497
VAR_011497 disease phenotype-associated
VAR_011497 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_011498 commonName VAR_011498
VAR_011498 disease phenotype-associated
VAR_011498 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_011499 commonName VAR_011499
VAR_011499 disease phenotype-associated
VAR_011499 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011500 commonName VAR_011500
VAR_011500 disease phenotype-associated
VAR_011500 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011501 commonName VAR_011501
VAR_011501 disease phenotype-associated
VAR_011501 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011503 commonName VAR_011503
VAR_011503 disease phenotype-associated
VAR_011503 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011504 commonName VAR_011504
VAR_011504 disease phenotype-associated
VAR_011504 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011505 commonName VAR_011505
VAR_011505 disease phenotype-associated
VAR_011505 phenoCommon DMGDH deficiency (DMGDHD) [MIM:605850]
VAR_011506 commonName VAR_011506
VAR_011506 disease phenotype-associated
VAR_011506 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011507 commonName VAR_011507
VAR_011507 disease phenotype-associated
VAR_011507 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011508 commonName VAR_011508
VAR_011508 disease phenotype-associated
VAR_011508 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011509 commonName VAR_011509
VAR_011509 disease phenotype-associated
VAR_011509 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011510 commonName VAR_011510
VAR_011510 disease phenotype-associated
VAR_011510 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_011512 commonName VAR_011512
VAR_011512 disease phenotype-associated
VAR_011512 phenoCommon HyperCKmia (HYPCK) [MIM:123320]
VAR_011512 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_011512 phenoCommon Myopathy distal Tateyama type (MPDT) [MIM:614321]
VAR_011512 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_011513 commonName VAR_011513
VAR_011513 disease phenotype-associated
VAR_011513 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_011513 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_011514 commonName VAR_011514
VAR_011514 disease phenotype-associated
VAR_011514 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_011515 commonName VAR_011515
VAR_011515 disease phenotype-associated
VAR_011515 phenoCommon Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]
VAR_011518 commonName VAR_011518
VAR_011518 disease not phenotype-associated
VAR_011519 commonName VAR_011519
VAR_011519 disease phenotype-associated
VAR_011519 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011520 commonName VAR_011520
VAR_011520 disease phenotype-associated
VAR_011520 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011521 commonName VAR_011521
VAR_011521 disease phenotype-associated
VAR_011521 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011522 commonName VAR_011522
VAR_011522 disease phenotype-associated
VAR_011522 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011523 commonName VAR_011523
VAR_011524 commonName VAR_011524
VAR_011524 disease phenotype-associated
VAR_011524 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011525 commonName VAR_011525
VAR_011525 disease phenotype-associated
VAR_011525 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011526 commonName VAR_011526
VAR_011526 disease phenotype-associated
VAR_011526 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011527 commonName VAR_011527
VAR_011527 disease phenotype-associated
VAR_011527 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011528 commonName VAR_011528
VAR_011528 disease phenotype-associated
VAR_011528 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011529 commonName VAR_011529
VAR_011529 disease phenotype-associated
VAR_011529 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011530 commonName VAR_011530
VAR_011530 disease phenotype-associated
VAR_011530 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011531 commonName VAR_011531
VAR_011531 disease phenotype-associated
VAR_011531 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011532 commonName VAR_011532
VAR_011532 disease phenotype-associated
VAR_011532 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011533 commonName VAR_011533
VAR_011533 disease phenotype-associated
VAR_011533 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011534 commonName VAR_011534
VAR_011534 disease phenotype-associated
VAR_011534 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011535 commonName VAR_011535
VAR_011535 disease phenotype-associated
VAR_011535 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011536 commonName VAR_011536
VAR_011537 commonName VAR_011537
VAR_011537 disease phenotype-associated
VAR_011537 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011538 commonName VAR_011538
VAR_011538 disease phenotype-associated
VAR_011538 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_011539 commonName VAR_011539
VAR_011539 disease phenotype-associated
VAR_011539 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011540 commonName VAR_011540
VAR_011541 commonName VAR_011541
VAR_011541 disease not phenotype-associated
VAR_011542 commonName VAR_011542
VAR_011543 commonName VAR_011543
VAR_011544 commonName VAR_011544
VAR_011545 commonName VAR_011545
VAR_011545 disease phenotype-associated
VAR_011545 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011546 commonName VAR_011546
VAR_011546 disease phenotype-associated
VAR_011546 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011547 commonName VAR_011547
VAR_011547 disease phenotype-associated
VAR_011547 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011548 commonName VAR_011548
VAR_011549 commonName VAR_011549
VAR_011549 disease phenotype-associated
VAR_011549 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011550 commonName VAR_011550
VAR_011550 disease not phenotype-associated
VAR_011551 commonName VAR_011551
VAR_011552 commonName VAR_011552
VAR_011552 disease phenotype-associated
VAR_011552 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011553 commonName VAR_011553
VAR_011553 disease phenotype-associated
VAR_011553 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011554 commonName VAR_011554
VAR_011554 disease phenotype-associated
VAR_011554 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011556 commonName VAR_011556
VAR_011556 disease phenotype-associated
VAR_011556 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011557 commonName VAR_011557
VAR_011557 disease phenotype-associated
VAR_011557 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_011558 comment Thyroid carcinoma
VAR_011558 commonName VAR_011558
VAR_011559 commonName VAR_011559
VAR_011559 disease not phenotype-associated
VAR_011560 commonName VAR_011560
VAR_011560 disease not phenotype-associated
VAR_011566 commonName VAR_011566
VAR_011566 disease phenotype-associated
VAR_011566 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011567 commonName VAR_011567
VAR_011567 disease phenotype-associated
VAR_011567 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_011568 commonName VAR_011568
VAR_011568 disease phenotype-associated
VAR_011568 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011569 commonName VAR_011569
VAR_011569 disease phenotype-associated
VAR_011569 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_011570 commonName VAR_011570
VAR_011570 disease phenotype-associated
VAR_011570 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011571 commonName VAR_011571
VAR_011571 disease phenotype-associated
VAR_011571 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011572 commonName VAR_011572
VAR_011572 disease phenotype-associated
VAR_011572 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011573 commonName VAR_011573
VAR_011573 disease not phenotype-associated
VAR_011574 commonName VAR_011574
VAR_011574 disease phenotype-associated
VAR_011574 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011575 commonName VAR_011575
VAR_011575 disease phenotype-associated
VAR_011575 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011576 commonName VAR_011576
VAR_011576 disease phenotype-associated
VAR_011576 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_011577 commonName VAR_011577
VAR_011577 disease not phenotype-associated
VAR_011578 commonName VAR_011578
VAR_011578 disease not phenotype-associated
VAR_011579 commonName VAR_011579
VAR_011579 disease not phenotype-associated
VAR_011580 commonName VAR_011580
VAR_011580 disease phenotype-associated
VAR_011580 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_011581 commonName VAR_011581
VAR_011581 disease phenotype-associated
VAR_011581 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200]
VAR_011582 commonName VAR_011582
VAR_011582 disease phenotype-associated
VAR_011582 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_011583 commonName VAR_011583
VAR_011583 disease not phenotype-associated
VAR_011584 commonName VAR_011584
VAR_011584 disease not phenotype-associated
VAR_011585 commonName VAR_011585
VAR_011585 disease phenotype-associated
VAR_011585 phenoCommon Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]
VAR_011586 commonName VAR_011586
VAR_011586 disease not phenotype-associated
VAR_011587 commonName VAR_011587
VAR_011587 disease phenotype-associated
VAR_011587 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_011588 comment Multiple cancers
VAR_011588 commonName VAR_011588
VAR_011589 comment Multiple cancers
VAR_011589 commonName VAR_011589
VAR_011590 commonName VAR_011590
VAR_011590 disease not phenotype-associated
VAR_011591 commonName VAR_011591
VAR_011591 disease not phenotype-associated
VAR_011592 commonName VAR_011592
VAR_011592 disease not phenotype-associated
VAR_011594 commonName VAR_011594
VAR_011594 disease not phenotype-associated
VAR_011596 commonName VAR_011596
VAR_011596 disease phenotype-associated
VAR_011596 phenoCommon Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]
VAR_011597 commonName VAR_011597
VAR_011597 disease not phenotype-associated
VAR_011598 commonName VAR_011598
VAR_011598 disease not phenotype-associated
VAR_011599 commonName VAR_011599
VAR_011599 disease not phenotype-associated
VAR_011600 commonName VAR_011600
VAR_011600 disease not phenotype-associated
VAR_011601 commonName VAR_011601
VAR_011601 disease not phenotype-associated
VAR_011602 commonName VAR_011602
VAR_011602 disease not phenotype-associated
VAR_011603 commonName VAR_011603
VAR_011603 disease not phenotype-associated
VAR_011604 commonName VAR_011604
VAR_011604 disease not phenotype-associated
VAR_011605 commonName VAR_011605
VAR_011605 disease not phenotype-associated
VAR_011606 commonName VAR_011606
VAR_011606 disease not phenotype-associated
VAR_011607 commonName VAR_011607
VAR_011607 disease not phenotype-associated
VAR_011608 commonName VAR_011608
VAR_011608 disease not phenotype-associated
VAR_011609 commonName VAR_011609
VAR_011609 disease not phenotype-associated
VAR_011610 commonName VAR_011610
VAR_011610 disease not phenotype-associated
VAR_011611 commonName VAR_011611
VAR_011611 disease not phenotype-associated
VAR_011612 commonName VAR_011612
VAR_011612 disease not phenotype-associated
VAR_011613 commonName VAR_011613
VAR_011613 disease not phenotype-associated
VAR_011614 commonName VAR_011614
VAR_011614 disease phenotype-associated
VAR_011614 phenoCommon Prolidase deficiency (PD) [MIM:170100]
VAR_011615 commonName VAR_011615
VAR_011615 disease phenotype-associated
VAR_011615 phenoCommon Prolidase deficiency (PD) [MIM:170100]
VAR_011616 commonName VAR_011616
VAR_011616 disease not phenotype-associated
VAR_011617 commonName VAR_011617
VAR_011617 disease not phenotype-associated
VAR_011618 commonName VAR_011618
VAR_011618 disease phenotype-associated
VAR_011618 phenoCommon Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]
VAR_011619 commonName VAR_011619
VAR_011619 disease phenotype-associated
VAR_011619 phenoCommon Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]
VAR_011620 commonName VAR_011620
VAR_011621 commonName VAR_011621
VAR_011621 disease not phenotype-associated
VAR_011623 commonName VAR_011623
VAR_011623 disease phenotype-associated
VAR_011623 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_011624 commonName VAR_011624
VAR_011624 disease phenotype-associated
VAR_011624 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_011624 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_011625 comment Cancer
VAR_011625 commonName VAR_011625
VAR_011626 commonName VAR_011626
VAR_011626 disease not phenotype-associated
VAR_011627 comment Cancer
VAR_011627 commonName VAR_011627
VAR_011628 comment Cancer
VAR_011628 commonName VAR_011628
VAR_011630 commonName VAR_011630
VAR_011630 disease not phenotype-associated
VAR_011631 commonName VAR_011631
VAR_011631 disease not phenotype-associated
VAR_011632 commonName VAR_011632
VAR_011632 disease not phenotype-associated
VAR_011633 commonName VAR_011633
VAR_011633 disease phenotype-associated
VAR_011633 phenoCommon Narcolepsy type 1 (NRCLP1) [MIM:161400]
VAR_011634 commonName VAR_011634
VAR_011635 commonName VAR_011635
VAR_011636 commonName VAR_011636
VAR_011638 commonName VAR_011638
VAR_011639 commonName VAR_011639
VAR_011639 disease not phenotype-associated
VAR_011640 commonName VAR_011640
VAR_011640 disease not phenotype-associated
VAR_011641 commonName VAR_011641
VAR_011641 disease phenotype-associated
VAR_011641 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_011642 commonName VAR_011642
VAR_011642 disease phenotype-associated
VAR_011642 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_011643 commonName VAR_011643
VAR_011643 disease phenotype-associated
VAR_011643 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_011643 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_011644 commonName VAR_011644
VAR_011644 disease phenotype-associated
VAR_011644 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_011644 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_011650 commonName VAR_011650
VAR_011650 disease not phenotype-associated
VAR_011651 commonName VAR_011651
VAR_011651 disease not phenotype-associated
VAR_011652 commonName VAR_011652
VAR_011652 disease phenotype-associated
VAR_011652 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011653 commonName VAR_011653
VAR_011653 disease phenotype-associated
VAR_011653 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011654 commonName VAR_011654
VAR_011654 disease phenotype-associated
VAR_011654 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011655 commonName VAR_011655
VAR_011655 disease phenotype-associated
VAR_011655 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011656 commonName VAR_011656
VAR_011656 disease phenotype-associated
VAR_011656 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011657 commonName VAR_011657
VAR_011657 disease not phenotype-associated
VAR_011658 commonName VAR_011658
VAR_011658 disease not phenotype-associated
VAR_011659 commonName VAR_011659
VAR_011659 disease not phenotype-associated
VAR_011660 commonName VAR_011660
VAR_011660 disease not phenotype-associated
VAR_011661 commonName VAR_011661
VAR_011661 disease not phenotype-associated
VAR_011664 commonName VAR_011664
VAR_011664 disease not phenotype-associated
VAR_011665 commonName VAR_011665
VAR_011665 disease not phenotype-associated
VAR_011666 commonName VAR_011666
VAR_011666 disease phenotype-associated
VAR_011666 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011667 commonName VAR_011667
VAR_011667 disease phenotype-associated
VAR_011667 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011668 commonName VAR_011668
VAR_011668 disease phenotype-associated
VAR_011668 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011669 commonName VAR_011669
VAR_011669 disease phenotype-associated
VAR_011669 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011670 commonName VAR_011670
VAR_011670 disease phenotype-associated
VAR_011670 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011671 commonName VAR_011671
VAR_011671 disease phenotype-associated
VAR_011671 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011672 commonName VAR_011672
VAR_011672 disease phenotype-associated
VAR_011672 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011673 commonName VAR_011673
VAR_011673 disease phenotype-associated
VAR_011673 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011674 commonName VAR_011674
VAR_011674 disease phenotype-associated
VAR_011674 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_011675 commonName VAR_011675
VAR_011675 disease not phenotype-associated
VAR_011676 commonName VAR_011676
VAR_011676 disease not phenotype-associated
VAR_011677 commonName VAR_011677
VAR_011677 disease not phenotype-associated
VAR_011678 commonName VAR_011678
VAR_011680 commonName VAR_011680
VAR_011680 disease phenotype-associated
VAR_011680 phenoCommon Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
VAR_011681 commonName VAR_011681
VAR_011681 disease phenotype-associated
VAR_011681 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011682 commonName VAR_011682
VAR_011682 disease phenotype-associated
VAR_011682 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011683 commonName VAR_011683
VAR_011683 disease phenotype-associated
VAR_011683 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011684 commonName VAR_011684
VAR_011684 disease phenotype-associated
VAR_011684 phenoCommon Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
VAR_011685 commonName VAR_011685
VAR_011685 disease phenotype-associated
VAR_011685 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011686 commonName VAR_011686
VAR_011686 disease phenotype-associated
VAR_011686 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011687 commonName VAR_011687
VAR_011687 disease phenotype-associated
VAR_011687 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_011688 commonName VAR_011688
VAR_011688 disease phenotype-associated
VAR_011688 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011689 commonName VAR_011689
VAR_011689 disease phenotype-associated
VAR_011689 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011689 phenoCommon Tropical calcific pancreatitis (TCP) [MIM:608189]
VAR_011690 commonName VAR_011690
VAR_011690 disease not phenotype-associated
VAR_011691 commonName VAR_011691
VAR_011691 disease not phenotype-associated
VAR_011692 commonName VAR_011692
VAR_011692 disease not phenotype-associated
VAR_011693 commonName VAR_011693
VAR_011693 disease phenotype-associated
VAR_011693 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_011698 commonName VAR_011698
VAR_011698 disease phenotype-associated
VAR_011698 phenoCommon GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]
VAR_011699 commonName VAR_011699
VAR_011699 disease phenotype-associated
VAR_011699 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_011700 commonName VAR_011700
VAR_011700 disease phenotype-associated
VAR_011700 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_011701 commonName VAR_011701
VAR_011701 disease phenotype-associated
VAR_011701 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_011702 commonName VAR_011702
VAR_011702 disease phenotype-associated
VAR_011702 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_011703 commonName VAR_011703
VAR_011703 disease not phenotype-associated
VAR_011704 commonName VAR_011704
VAR_011704 disease phenotype-associated
VAR_011704 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]
VAR_011707 commonName VAR_011707
VAR_011707 disease not phenotype-associated
VAR_011708 commonName VAR_011708
VAR_011708 disease not phenotype-associated
VAR_011709 commonName VAR_011709
VAR_011709 disease not phenotype-associated
VAR_011713 commonName VAR_011713
VAR_011713 disease not phenotype-associated
VAR_011714 commonName VAR_011714
VAR_011714 disease not phenotype-associated
VAR_011715 commonName VAR_011715
VAR_011715 disease not phenotype-associated
VAR_011716 commonName VAR_011716
VAR_011716 disease not phenotype-associated
VAR_011717 commonName VAR_011717
VAR_011717 disease not phenotype-associated
VAR_011718 commonName VAR_011718
VAR_011718 disease not phenotype-associated
VAR_011719 commonName VAR_011719
VAR_011719 disease not phenotype-associated
VAR_011720 commonName VAR_011720
VAR_011720 disease not phenotype-associated
VAR_011721 commonName VAR_011721
VAR_011721 disease not phenotype-associated
VAR_011722 commonName VAR_011722
VAR_011722 disease not phenotype-associated
VAR_011723 commonName VAR_011723
VAR_011723 disease not phenotype-associated
VAR_011724 commonName VAR_011724
VAR_011724 disease not phenotype-associated
VAR_011725 commonName VAR_011725
VAR_011725 disease not phenotype-associated
VAR_011726 commonName VAR_011726
VAR_011726 disease not phenotype-associated
VAR_011727 commonName VAR_011727
VAR_011727 disease not phenotype-associated
VAR_011728 commonName VAR_011728
VAR_011728 disease not phenotype-associated
VAR_011729 commonName VAR_011729
VAR_011729 disease not phenotype-associated
VAR_011730 commonName VAR_011730
VAR_011730 disease not phenotype-associated
VAR_011731 commonName VAR_011731
VAR_011731 disease not phenotype-associated
VAR_011732 commonName VAR_011732
VAR_011732 disease not phenotype-associated
VAR_011733 commonName VAR_011733
VAR_011733 disease not phenotype-associated
VAR_011735 commonName VAR_011735
VAR_011735 disease not phenotype-associated
VAR_011736 commonName VAR_011736
VAR_011736 disease not phenotype-associated
VAR_011737 commonName VAR_011737
VAR_011737 disease not phenotype-associated
VAR_011738 commonName VAR_011738
VAR_011738 disease not phenotype-associated
VAR_011739 commonName VAR_011739
VAR_011739 disease not phenotype-associated
VAR_011740 commonName VAR_011740
VAR_011740 disease not phenotype-associated
VAR_011741 commonName VAR_011741
VAR_011741 disease not phenotype-associated
VAR_011742 commonName VAR_011742
VAR_011742 disease not phenotype-associated
VAR_011743 commonName VAR_011743
VAR_011743 disease not phenotype-associated
VAR_011744 commonName VAR_011744
VAR_011744 disease not phenotype-associated
VAR_011745 commonName VAR_011745
VAR_011745 disease not phenotype-associated
VAR_011746 commonName VAR_011746
VAR_011746 disease not phenotype-associated
VAR_011747 commonName VAR_011747
VAR_011747 disease not phenotype-associated
VAR_011748 commonName VAR_011748
VAR_011748 disease not phenotype-associated
VAR_011749 commonName VAR_011749
VAR_011749 disease not phenotype-associated
VAR_011750 commonName VAR_011750
VAR_011750 disease not phenotype-associated
VAR_011751 commonName VAR_011751
VAR_011751 disease not phenotype-associated
VAR_011752 commonName VAR_011752
VAR_011752 disease not phenotype-associated
VAR_011753 commonName VAR_011753
VAR_011753 disease not phenotype-associated
VAR_011754 commonName VAR_011754
VAR_011754 disease not phenotype-associated
VAR_011755 commonName VAR_011755
VAR_011755 disease not phenotype-associated
VAR_011756 commonName VAR_011756
VAR_011756 disease not phenotype-associated
VAR_011757 commonName VAR_011757
VAR_011757 disease not phenotype-associated
VAR_011758 commonName VAR_011758
VAR_011758 disease not phenotype-associated
VAR_011759 commonName VAR_011759
VAR_011759 disease not phenotype-associated
VAR_011760 commonName VAR_011760
VAR_011760 disease not phenotype-associated
VAR_011761 commonName VAR_011761
VAR_011761 disease not phenotype-associated
VAR_011762 commonName VAR_011762
VAR_011762 disease not phenotype-associated
VAR_011763 commonName VAR_011763
VAR_011763 disease not phenotype-associated
VAR_011764 commonName VAR_011764
VAR_011764 disease not phenotype-associated
VAR_011765 commonName VAR_011765
VAR_011765 disease not phenotype-associated
VAR_011766 commonName VAR_011766
VAR_011766 disease not phenotype-associated
VAR_011767 commonName VAR_011767
VAR_011767 disease not phenotype-associated
VAR_011768 commonName VAR_011768
VAR_011768 disease not phenotype-associated
VAR_011769 commonName VAR_011769
VAR_011769 disease not phenotype-associated
VAR_011770 commonName VAR_011770
VAR_011770 disease not phenotype-associated
VAR_011771 commonName VAR_011771
VAR_011771 disease not phenotype-associated
VAR_011773 commonName VAR_011773
VAR_011773 disease not phenotype-associated
VAR_011774 commonName VAR_011774
VAR_011774 disease not phenotype-associated
VAR_011775 commonName VAR_011775
VAR_011775 disease not phenotype-associated
VAR_011776 commonName VAR_011776
VAR_011776 disease not phenotype-associated
VAR_011777 commonName VAR_011777
VAR_011777 disease not phenotype-associated
VAR_011778 commonName VAR_011778
VAR_011778 disease not phenotype-associated
VAR_011779 commonName VAR_011779
VAR_011779 disease not phenotype-associated
VAR_011780 commonName VAR_011780
VAR_011780 disease not phenotype-associated
VAR_011781 commonName VAR_011781
VAR_011781 disease not phenotype-associated
VAR_011782 commonName VAR_011782
VAR_011782 disease not phenotype-associated
VAR_011783 commonName VAR_011783
VAR_011783 disease not phenotype-associated
VAR_011784 commonName VAR_011784
VAR_011784 disease not phenotype-associated
VAR_011785 commonName VAR_011785
VAR_011785 disease not phenotype-associated
VAR_011786 commonName VAR_011786
VAR_011786 disease not phenotype-associated
VAR_011788 commonName VAR_011788
VAR_011788 disease not phenotype-associated
VAR_011789 commonName VAR_011789
VAR_011789 disease not phenotype-associated
VAR_011790 commonName VAR_011790
VAR_011790 disease not phenotype-associated
VAR_011791 commonName VAR_011791
VAR_011791 disease not phenotype-associated
VAR_011792 commonName VAR_011792
VAR_011792 disease not phenotype-associated
VAR_011793 commonName VAR_011793
VAR_011793 disease not phenotype-associated
VAR_011794 commonName VAR_011794
VAR_011794 disease not phenotype-associated
VAR_011795 commonName VAR_011795
VAR_011795 disease not phenotype-associated
VAR_011796 commonName VAR_011796
VAR_011796 disease not phenotype-associated
VAR_011797 commonName VAR_011797
VAR_011797 disease not phenotype-associated
VAR_011798 commonName VAR_011798
VAR_011798 disease not phenotype-associated
VAR_011799 commonName VAR_011799
VAR_011799 disease not phenotype-associated
VAR_011800 commonName VAR_011800
VAR_011800 disease not phenotype-associated
VAR_011801 commonName VAR_011801
VAR_011801 disease not phenotype-associated
VAR_011802 commonName VAR_011802
VAR_011802 disease not phenotype-associated
VAR_011803 commonName VAR_011803
VAR_011803 disease not phenotype-associated
VAR_011804 commonName VAR_011804
VAR_011804 disease not phenotype-associated
VAR_011806 commonName VAR_011806
VAR_011806 disease not phenotype-associated
VAR_011807 commonName VAR_011807
VAR_011807 disease not phenotype-associated
VAR_011808 commonName VAR_011808
VAR_011808 disease not phenotype-associated
VAR_011809 commonName VAR_011809
VAR_011809 disease not phenotype-associated
VAR_011810 commonName VAR_011810
VAR_011810 disease not phenotype-associated
VAR_011811 commonName VAR_011811
VAR_011811 disease not phenotype-associated
VAR_011812 commonName VAR_011812
VAR_011812 disease not phenotype-associated
VAR_011813 commonName VAR_011813
VAR_011813 disease not phenotype-associated
VAR_011814 commonName VAR_011814
VAR_011814 disease not phenotype-associated
VAR_011815 commonName VAR_011815
VAR_011815 disease not phenotype-associated
VAR_011816 commonName VAR_011816
VAR_011816 disease not phenotype-associated
VAR_011817 commonName VAR_011817
VAR_011817 disease not phenotype-associated
VAR_011818 commonName VAR_011818
VAR_011818 disease not phenotype-associated
VAR_011820 commonName VAR_011820
VAR_011820 disease not phenotype-associated
VAR_011821 commonName VAR_011821
VAR_011821 disease not phenotype-associated
VAR_011823 commonName VAR_011823
VAR_011823 disease not phenotype-associated
VAR_011824 commonName VAR_011824
VAR_011824 disease not phenotype-associated
VAR_011825 commonName VAR_011825
VAR_011825 disease not phenotype-associated
VAR_011826 commonName VAR_011826
VAR_011826 disease not phenotype-associated
VAR_011827 commonName VAR_011827
VAR_011827 disease not phenotype-associated
VAR_011828 commonName VAR_011828
VAR_011828 disease not phenotype-associated
VAR_011829 commonName VAR_011829
VAR_011829 disease not phenotype-associated
VAR_011830 commonName VAR_011830
VAR_011830 disease not phenotype-associated
VAR_011831 commonName VAR_011831
VAR_011831 disease not phenotype-associated
VAR_011832 commonName VAR_011832
VAR_011832 disease not phenotype-associated
VAR_011833 commonName VAR_011833
VAR_011833 disease not phenotype-associated
VAR_011834 commonName VAR_011834
VAR_011834 disease not phenotype-associated
VAR_011835 commonName VAR_011835
VAR_011835 disease not phenotype-associated
VAR_011837 commonName VAR_011837
VAR_011837 disease not phenotype-associated
VAR_011839 commonName VAR_011839
VAR_011839 disease not phenotype-associated
VAR_011840 commonName VAR_011840
VAR_011840 disease not phenotype-associated
VAR_011841 commonName VAR_011841
VAR_011841 disease not phenotype-associated
VAR_011842 commonName VAR_011842
VAR_011842 disease not phenotype-associated
VAR_011843 commonName VAR_011843
VAR_011843 disease not phenotype-associated
VAR_011844 commonName VAR_011844
VAR_011844 disease not phenotype-associated
VAR_011845 commonName VAR_011845
VAR_011845 disease not phenotype-associated
VAR_011846 commonName VAR_011846
VAR_011846 disease not phenotype-associated
VAR_011847 commonName VAR_011847
VAR_011847 disease not phenotype-associated
VAR_011848 commonName VAR_011848
VAR_011848 disease not phenotype-associated
VAR_011849 commonName VAR_011849
VAR_011849 disease not phenotype-associated
VAR_011850 commonName VAR_011850
VAR_011850 disease not phenotype-associated
VAR_011851 commonName VAR_011851
VAR_011851 disease not phenotype-associated
VAR_011852 commonName VAR_011852
VAR_011852 disease not phenotype-associated
VAR_011853 commonName VAR_011853
VAR_011853 disease not phenotype-associated
VAR_011854 commonName VAR_011854
VAR_011854 disease not phenotype-associated
VAR_011855 commonName VAR_011855
VAR_011855 disease not phenotype-associated
VAR_011856 commonName VAR_011856
VAR_011856 disease not phenotype-associated
VAR_011857 commonName VAR_011857
VAR_011857 disease not phenotype-associated
VAR_011858 commonName VAR_011858
VAR_011858 disease not phenotype-associated
VAR_011859 commonName VAR_011859
VAR_011859 disease not phenotype-associated
VAR_011860 commonName VAR_011860
VAR_011860 disease not phenotype-associated
VAR_011861 commonName VAR_011861
VAR_011861 disease not phenotype-associated
VAR_011862 commonName VAR_011862
VAR_011862 disease not phenotype-associated
VAR_011863 commonName VAR_011863
VAR_011863 disease not phenotype-associated
VAR_011865 commonName VAR_011865
VAR_011865 disease not phenotype-associated
VAR_011866 commonName VAR_011866
VAR_011866 disease not phenotype-associated
VAR_011867 commonName VAR_011867
VAR_011867 disease not phenotype-associated
VAR_011868 commonName VAR_011868
VAR_011868 disease not phenotype-associated
VAR_011869 commonName VAR_011869
VAR_011869 disease not phenotype-associated
VAR_011870 commonName VAR_011870
VAR_011870 disease not phenotype-associated
VAR_011871 commonName VAR_011871
VAR_011871 disease not phenotype-associated
VAR_011872 commonName VAR_011872
VAR_011872 disease not phenotype-associated
VAR_011873 commonName VAR_011873
VAR_011873 disease not phenotype-associated
VAR_011876 commonName VAR_011876
VAR_011876 disease not phenotype-associated
VAR_011877 commonName VAR_011877
VAR_011877 disease not phenotype-associated
VAR_011878 commonName VAR_011878
VAR_011878 disease not phenotype-associated
VAR_011880 commonName VAR_011880
VAR_011880 disease not phenotype-associated
VAR_011881 commonName VAR_011881
VAR_011881 disease not phenotype-associated
VAR_011882 commonName VAR_011882
VAR_011882 disease not phenotype-associated
VAR_011883 commonName VAR_011883
VAR_011883 disease not phenotype-associated
VAR_011884 commonName VAR_011884
VAR_011884 disease not phenotype-associated
VAR_011885 commonName VAR_011885
VAR_011885 disease not phenotype-associated
VAR_011886 commonName VAR_011886
VAR_011886 disease not phenotype-associated
VAR_011887 commonName VAR_011887
VAR_011887 disease not phenotype-associated
VAR_011888 commonName VAR_011888
VAR_011888 disease not phenotype-associated
VAR_011889 commonName VAR_011889
VAR_011889 disease not phenotype-associated
VAR_011890 commonName VAR_011890
VAR_011890 disease not phenotype-associated
VAR_011891 commonName VAR_011891
VAR_011891 disease not phenotype-associated
VAR_011892 commonName VAR_011892
VAR_011892 disease not phenotype-associated
VAR_011893 commonName VAR_011893
VAR_011893 disease not phenotype-associated
VAR_011894 commonName VAR_011894
VAR_011894 disease not phenotype-associated
VAR_011895 commonName VAR_011895
VAR_011895 disease not phenotype-associated
VAR_011896 commonName VAR_011896
VAR_011896 disease not phenotype-associated
VAR_011897 commonName VAR_011897
VAR_011897 disease not phenotype-associated
VAR_011898 commonName VAR_011898
VAR_011898 disease not phenotype-associated
VAR_011899 commonName VAR_011899
VAR_011899 disease not phenotype-associated
VAR_011900 commonName VAR_011900
VAR_011900 disease not phenotype-associated
VAR_011901 commonName VAR_011901
VAR_011901 disease not phenotype-associated
VAR_011902 commonName VAR_011902
VAR_011902 disease not phenotype-associated
VAR_011903 commonName VAR_011903
VAR_011903 disease not phenotype-associated
VAR_011904 commonName VAR_011904
VAR_011904 disease not phenotype-associated
VAR_011905 commonName VAR_011905
VAR_011905 disease not phenotype-associated
VAR_011906 commonName VAR_011906
VAR_011906 disease not phenotype-associated
VAR_011907 commonName VAR_011907
VAR_011907 disease not phenotype-associated
VAR_011908 commonName VAR_011908
VAR_011908 disease not phenotype-associated
VAR_011911 commonName VAR_011911
VAR_011911 disease not phenotype-associated
VAR_011912 commonName VAR_011912
VAR_011912 disease not phenotype-associated
VAR_011913 commonName VAR_011913
VAR_011913 disease not phenotype-associated
VAR_011914 commonName VAR_011914
VAR_011914 disease not phenotype-associated
VAR_011915 commonName VAR_011915
VAR_011915 disease not phenotype-associated
VAR_011916 commonName VAR_011916
VAR_011916 disease not phenotype-associated
VAR_011917 commonName VAR_011917
VAR_011917 disease phenotype-associated
VAR_011917 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_011918 commonName VAR_011918
VAR_011918 disease not phenotype-associated
VAR_011919 commonName VAR_011919
VAR_011919 disease not phenotype-associated
VAR_011920 commonName VAR_011920
VAR_011920 disease not phenotype-associated
VAR_011921 commonName VAR_011921
VAR_011921 disease not phenotype-associated
VAR_011922 commonName VAR_011922
VAR_011922 disease not phenotype-associated
VAR_011923 commonName VAR_011923
VAR_011923 disease not phenotype-associated
VAR_011924 commonName VAR_011924
VAR_011924 disease not phenotype-associated
VAR_011925 commonName VAR_011925
VAR_011925 disease not phenotype-associated
VAR_011926 commonName VAR_011926
VAR_011926 disease not phenotype-associated
VAR_011928 commonName VAR_011928
VAR_011928 disease not phenotype-associated
VAR_011930 commonName VAR_011930
VAR_011930 disease not phenotype-associated
VAR_011931 commonName VAR_011931
VAR_011931 disease not phenotype-associated
VAR_011932 commonName VAR_011932
VAR_011932 disease not phenotype-associated
VAR_011933 commonName VAR_011933
VAR_011933 disease not phenotype-associated
VAR_011934 commonName VAR_011934
VAR_011934 disease not phenotype-associated
VAR_011935 commonName VAR_011935
VAR_011935 disease not phenotype-associated
VAR_011936 commonName VAR_011936
VAR_011936 disease not phenotype-associated
VAR_011937 commonName VAR_011937
VAR_011937 disease not phenotype-associated
VAR_011938 commonName VAR_011938
VAR_011938 disease not phenotype-associated
VAR_011939 commonName VAR_011939
VAR_011939 disease not phenotype-associated
VAR_011940 commonName VAR_011940
VAR_011940 disease not phenotype-associated
VAR_011941 commonName VAR_011941
VAR_011941 disease not phenotype-associated
VAR_011942 commonName VAR_011942
VAR_011942 disease not phenotype-associated
VAR_011943 commonName VAR_011943
VAR_011943 disease not phenotype-associated
VAR_011944 commonName VAR_011944
VAR_011944 disease not phenotype-associated
VAR_011945 commonName VAR_011945
VAR_011945 disease not phenotype-associated
VAR_011947 commonName VAR_011947
VAR_011947 disease not phenotype-associated
VAR_011948 commonName VAR_011948
VAR_011948 disease phenotype-associated
VAR_011948 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_011949 commonName VAR_011949
VAR_011949 disease not phenotype-associated
VAR_011950 commonName VAR_011950
VAR_011950 disease not phenotype-associated
VAR_011951 commonName VAR_011951
VAR_011951 disease not phenotype-associated
VAR_011952 commonName VAR_011952
VAR_011952 disease not phenotype-associated
VAR_011953 commonName VAR_011953
VAR_011953 disease not phenotype-associated
VAR_011954 commonName VAR_011954
VAR_011954 disease not phenotype-associated
VAR_011955 commonName VAR_011955
VAR_011955 disease not phenotype-associated
VAR_011958 commonName VAR_011958
VAR_011958 disease not phenotype-associated
VAR_011959 commonName VAR_011959
VAR_011959 disease not phenotype-associated
VAR_011960 commonName VAR_011960
VAR_011960 disease not phenotype-associated
VAR_011961 commonName VAR_011961
VAR_011961 disease not phenotype-associated
VAR_011962 commonName VAR_011962
VAR_011962 disease not phenotype-associated
VAR_011963 commonName VAR_011963
VAR_011963 disease not phenotype-associated
VAR_011964 commonName VAR_011964
VAR_011964 disease not phenotype-associated
VAR_011965 commonName VAR_011965
VAR_011965 disease not phenotype-associated
VAR_011966 commonName VAR_011966
VAR_011966 disease not phenotype-associated
VAR_011967 commonName VAR_011967
VAR_011967 disease not phenotype-associated
VAR_011968 commonName VAR_011968
VAR_011968 disease not phenotype-associated
VAR_011969 commonName VAR_011969
VAR_011969 disease not phenotype-associated
VAR_011970 commonName VAR_011970
VAR_011970 disease not phenotype-associated
VAR_011971 commonName VAR_011971
VAR_011971 disease not phenotype-associated
VAR_011972 commonName VAR_011972
VAR_011972 disease not phenotype-associated
VAR_011973 commonName VAR_011973
VAR_011973 disease not phenotype-associated
VAR_011974 commonName VAR_011974
VAR_011974 disease not phenotype-associated
VAR_011975 commonName VAR_011975
VAR_011975 disease not phenotype-associated
VAR_011976 commonName VAR_011976
VAR_011976 disease not phenotype-associated
VAR_011977 commonName VAR_011977
VAR_011977 disease not phenotype-associated
VAR_011978 commonName VAR_011978
VAR_011978 disease not phenotype-associated
VAR_011982 commonName VAR_011982
VAR_011982 disease not phenotype-associated
VAR_011983 commonName VAR_011983
VAR_011983 disease not phenotype-associated
VAR_011984 commonName VAR_011984
VAR_011984 disease not phenotype-associated
VAR_011985 commonName VAR_011985
VAR_011985 disease not phenotype-associated
VAR_011986 commonName VAR_011986
VAR_011986 disease not phenotype-associated
VAR_011987 commonName VAR_011987
VAR_011987 disease not phenotype-associated
VAR_011988 commonName VAR_011988
VAR_011988 disease not phenotype-associated
VAR_011989 commonName VAR_011989
VAR_011989 disease not phenotype-associated
VAR_011990 commonName VAR_011990
VAR_011990 disease not phenotype-associated
VAR_011992 commonName VAR_011992
VAR_011992 disease not phenotype-associated
VAR_011993 commonName VAR_011993
VAR_011993 disease not phenotype-associated
VAR_011994 commonName VAR_011994
VAR_011994 disease not phenotype-associated
VAR_011995 commonName VAR_011995
VAR_011995 disease not phenotype-associated
VAR_011996 commonName VAR_011996
VAR_011996 disease not phenotype-associated
VAR_011997 commonName VAR_011997
VAR_011997 disease not phenotype-associated
VAR_011998 commonName VAR_011998
VAR_011998 disease not phenotype-associated
VAR_011999 commonName VAR_011999
VAR_011999 disease not phenotype-associated
VAR_012002 commonName VAR_012002
VAR_012002 disease not phenotype-associated
VAR_012003 commonName VAR_012003
VAR_012003 disease not phenotype-associated
VAR_012004 commonName VAR_012004
VAR_012004 disease not phenotype-associated
VAR_012005 commonName VAR_012005
VAR_012005 disease not phenotype-associated
VAR_012006 commonName VAR_012006
VAR_012006 disease not phenotype-associated
VAR_012007 commonName VAR_012007
VAR_012007 disease not phenotype-associated
VAR_012008 commonName VAR_012008
VAR_012008 disease not phenotype-associated
VAR_012009 commonName VAR_012009
VAR_012009 disease not phenotype-associated
VAR_012010 commonName VAR_012010
VAR_012010 disease not phenotype-associated
VAR_012011 commonName VAR_012011
VAR_012011 disease not phenotype-associated
VAR_012012 commonName VAR_012012
VAR_012012 disease not phenotype-associated
VAR_012013 commonName VAR_012013
VAR_012013 disease not phenotype-associated
VAR_012014 commonName VAR_012014
VAR_012014 disease not phenotype-associated
VAR_012015 commonName VAR_012015
VAR_012015 disease not phenotype-associated
VAR_012016 commonName VAR_012016
VAR_012016 disease not phenotype-associated
VAR_012017 commonName VAR_012017
VAR_012017 disease not phenotype-associated
VAR_012018 commonName VAR_012018
VAR_012018 disease not phenotype-associated
VAR_012019 commonName VAR_012019
VAR_012019 disease not phenotype-associated
VAR_012020 commonName VAR_012020
VAR_012020 disease not phenotype-associated
VAR_012021 commonName VAR_012021
VAR_012021 disease not phenotype-associated
VAR_012022 commonName VAR_012022
VAR_012022 disease not phenotype-associated
VAR_012023 commonName VAR_012023
VAR_012023 disease not phenotype-associated
VAR_012024 commonName VAR_012024
VAR_012024 disease not phenotype-associated
VAR_012026 commonName VAR_012026
VAR_012026 disease not phenotype-associated
VAR_012027 commonName VAR_012027
VAR_012027 disease not phenotype-associated
VAR_012028 commonName VAR_012028
VAR_012028 disease not phenotype-associated
VAR_012029 commonName VAR_012029
VAR_012029 disease not phenotype-associated
VAR_012030 commonName VAR_012030
VAR_012030 disease not phenotype-associated
VAR_012031 commonName VAR_012031
VAR_012031 disease not phenotype-associated
VAR_012034 commonName VAR_012034
VAR_012034 disease not phenotype-associated
VAR_012035 commonName VAR_012035
VAR_012035 disease not phenotype-associated
VAR_012037 commonName VAR_012037
VAR_012037 disease not phenotype-associated
VAR_012038 commonName VAR_012038
VAR_012038 disease not phenotype-associated
VAR_012039 commonName VAR_012039
VAR_012039 disease not phenotype-associated
VAR_012041 commonName VAR_012041
VAR_012041 disease not phenotype-associated
VAR_012042 commonName VAR_012042
VAR_012042 disease not phenotype-associated
VAR_012043 commonName VAR_012043
VAR_012043 disease not phenotype-associated
VAR_012044 commonName VAR_012044
VAR_012044 disease not phenotype-associated
VAR_012045 commonName VAR_012045
VAR_012045 disease not phenotype-associated
VAR_012046 commonName VAR_012046
VAR_012046 disease not phenotype-associated
VAR_012047 commonName VAR_012047
VAR_012047 disease not phenotype-associated
VAR_012048 commonName VAR_012048
VAR_012048 disease not phenotype-associated
VAR_012050 commonName VAR_012050
VAR_012050 disease not phenotype-associated
VAR_012051 commonName VAR_012051
VAR_012051 disease not phenotype-associated
VAR_012052 commonName VAR_012052
VAR_012052 disease not phenotype-associated
VAR_012053 commonName VAR_012053
VAR_012053 disease not phenotype-associated
VAR_012054 commonName VAR_012054
VAR_012054 disease not phenotype-associated
VAR_012055 commonName VAR_012055
VAR_012055 disease not phenotype-associated
VAR_012056 commonName VAR_012056
VAR_012056 disease not phenotype-associated
VAR_012058 commonName VAR_012058
VAR_012058 disease not phenotype-associated
VAR_012059 commonName VAR_012059
VAR_012059 disease not phenotype-associated
VAR_012060 commonName VAR_012060
VAR_012060 disease not phenotype-associated
VAR_012061 commonName VAR_012061
VAR_012061 disease not phenotype-associated
VAR_012062 commonName VAR_012062
VAR_012062 disease not phenotype-associated
VAR_012063 commonName VAR_012063
VAR_012063 disease not phenotype-associated
VAR_012064 commonName VAR_012064
VAR_012064 disease not phenotype-associated
VAR_012065 commonName VAR_012065
VAR_012065 disease not phenotype-associated
VAR_012066 commonName VAR_012066
VAR_012066 disease not phenotype-associated
VAR_012067 commonName VAR_012067
VAR_012067 disease not phenotype-associated
VAR_012070 commonName VAR_012070
VAR_012070 disease not phenotype-associated
VAR_012071 commonName VAR_012071
VAR_012071 disease not phenotype-associated
VAR_012072 commonName VAR_012072
VAR_012072 disease not phenotype-associated
VAR_012073 commonName VAR_012073
VAR_012073 disease not phenotype-associated
VAR_012075 commonName VAR_012075
VAR_012075 disease not phenotype-associated
VAR_012076 commonName VAR_012076
VAR_012076 disease not phenotype-associated
VAR_012077 commonName VAR_012077
VAR_012077 disease not phenotype-associated
VAR_012078 commonName VAR_012078
VAR_012078 disease not phenotype-associated
VAR_012079 commonName VAR_012079
VAR_012079 disease not phenotype-associated
VAR_012080 commonName VAR_012080
VAR_012080 disease not phenotype-associated
VAR_012083 commonName VAR_012083
VAR_012083 disease not phenotype-associated
VAR_012084 commonName VAR_012084
VAR_012084 disease not phenotype-associated
VAR_012085 commonName VAR_012085
VAR_012085 disease phenotype-associated
VAR_012085 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012086 commonName VAR_012086
VAR_012086 disease phenotype-associated
VAR_012086 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012087 commonName VAR_012087
VAR_012087 disease phenotype-associated
VAR_012087 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012088 commonName VAR_012088
VAR_012088 disease phenotype-associated
VAR_012088 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012089 commonName VAR_012089
VAR_012089 disease phenotype-associated
VAR_012089 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012090 commonName VAR_012090
VAR_012090 disease phenotype-associated
VAR_012090 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012091 commonName VAR_012091
VAR_012091 disease phenotype-associated
VAR_012091 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012092 commonName VAR_012092
VAR_012092 disease phenotype-associated
VAR_012092 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012093 commonName VAR_012093
VAR_012093 disease phenotype-associated
VAR_012093 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012094 commonName VAR_012094
VAR_012094 disease phenotype-associated
VAR_012094 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012095 commonName VAR_012095
VAR_012095 disease phenotype-associated
VAR_012095 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012096 commonName VAR_012096
VAR_012096 disease phenotype-associated
VAR_012096 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_012097 commonName VAR_012097
VAR_012097 disease not phenotype-associated
VAR_012098 commonName VAR_012098
VAR_012098 disease not phenotype-associated
VAR_012099 commonName VAR_012099
VAR_012099 disease not phenotype-associated
VAR_012100 commonName VAR_012100
VAR_012100 disease not phenotype-associated
VAR_012101 commonName VAR_012101
VAR_012101 disease not phenotype-associated
VAR_012105 commonName VAR_012105
VAR_012105 disease phenotype-associated
VAR_012105 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
VAR_012106 commonName VAR_012106
VAR_012106 disease phenotype-associated
VAR_012106 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
VAR_012107 commonName VAR_012107
VAR_012107 disease phenotype-associated
VAR_012107 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
VAR_012108 commonName VAR_012108
VAR_012108 disease phenotype-associated
VAR_012108 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
VAR_012109 commonName VAR_012109
VAR_012109 disease phenotype-associated
VAR_012109 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_012111 commonName VAR_012111
VAR_012111 disease phenotype-associated
VAR_012111 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
VAR_012112 commonName VAR_012112
VAR_012112 disease phenotype-associated
VAR_012112 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
VAR_012113 commonName VAR_012113
VAR_012113 disease phenotype-associated
VAR_012113 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012115 commonName VAR_012115
VAR_012115 disease phenotype-associated
VAR_012115 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012116 commonName VAR_012116
VAR_012116 disease phenotype-associated
VAR_012116 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012117 commonName VAR_012117
VAR_012117 disease phenotype-associated
VAR_012117 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012118 commonName VAR_012118
VAR_012118 disease phenotype-associated
VAR_012118 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012119 commonName VAR_012119
VAR_012119 disease phenotype-associated
VAR_012119 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012120 commonName VAR_012120
VAR_012120 disease phenotype-associated
VAR_012120 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012121 commonName VAR_012121
VAR_012122 commonName VAR_012122
VAR_012122 disease phenotype-associated
VAR_012122 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012123 commonName VAR_012123
VAR_012123 disease phenotype-associated
VAR_012123 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012124 commonName VAR_012124
VAR_012124 disease phenotype-associated
VAR_012124 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012125 commonName VAR_012125
VAR_012125 disease phenotype-associated
VAR_012125 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012126 commonName VAR_012126
VAR_012126 disease phenotype-associated
VAR_012126 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_012127 commonName VAR_012127
VAR_012127 disease phenotype-associated
VAR_012127 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
VAR_012128 commonName VAR_012128
VAR_012128 disease phenotype-associated
VAR_012128 phenoCommon Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
VAR_012129 commonName VAR_012129
VAR_012129 disease phenotype-associated
VAR_012129 phenoCommon Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
VAR_012132 commonName VAR_012132
VAR_012132 disease phenotype-associated
VAR_012132 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012133 commonName VAR_012133
VAR_012133 disease phenotype-associated
VAR_012133 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012134 commonName VAR_012134
VAR_012134 disease phenotype-associated
VAR_012134 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012135 commonName VAR_012135
VAR_012135 disease phenotype-associated
VAR_012135 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012137 commonName VAR_012137
VAR_012137 disease phenotype-associated
VAR_012137 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012138 commonName VAR_012138
VAR_012138 disease phenotype-associated
VAR_012138 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012139 commonName VAR_012139
VAR_012139 disease phenotype-associated
VAR_012139 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012140 commonName VAR_012140
VAR_012140 disease phenotype-associated
VAR_012140 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012141 commonName VAR_012141
VAR_012141 disease phenotype-associated
VAR_012141 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012142 commonName VAR_012142
VAR_012142 disease phenotype-associated
VAR_012142 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012143 commonName VAR_012143
VAR_012143 disease phenotype-associated
VAR_012143 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012144 commonName VAR_012144
VAR_012144 disease phenotype-associated
VAR_012144 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012145 commonName VAR_012145
VAR_012145 disease phenotype-associated
VAR_012145 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012146 commonName VAR_012146
VAR_012146 disease phenotype-associated
VAR_012146 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012147 commonName VAR_012147
VAR_012147 disease phenotype-associated
VAR_012147 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012148 commonName VAR_012148
VAR_012148 disease phenotype-associated
VAR_012148 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012149 commonName VAR_012149
VAR_012149 disease phenotype-associated
VAR_012149 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_012150 commonName VAR_012150
VAR_012153 commonName VAR_012153
VAR_012153 disease phenotype-associated
VAR_012153 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_012154 commonName VAR_012154
VAR_012154 disease phenotype-associated
VAR_012154 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_012155 commonName VAR_012155
VAR_012155 disease phenotype-associated
VAR_012155 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_012155 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_012155 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_012156 commonName VAR_012156
VAR_012156 disease phenotype-associated
VAR_012156 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_012157 commonName VAR_012157
VAR_012157 disease not phenotype-associated
VAR_012158 commonName VAR_012158
VAR_012158 disease not phenotype-associated
VAR_012159 commonName VAR_012159
VAR_012159 disease not phenotype-associated
VAR_012160 commonName VAR_012160
VAR_012160 disease phenotype-associated
VAR_012160 phenoCommon Nephronophthisis type 1 (NPHP1) [MIM:256100]
VAR_012161 commonName VAR_012161
VAR_012161 disease not phenotype-associated
VAR_012162 commonName VAR_012162
VAR_012162 disease not phenotype-associated
VAR_012164 commonName VAR_012164
VAR_012164 disease phenotype-associated
VAR_012164 phenoCommon Cataract autosomal dominant multiple types 1 (ADC-MT1) [MIM:611597]
VAR_012166 commonName VAR_012166
VAR_012166 disease not phenotype-associated
VAR_012167 commonName VAR_012167
VAR_012167 disease not phenotype-associated
VAR_012168 commonName VAR_012168
VAR_012168 disease not phenotype-associated
VAR_012169 commonName VAR_012169
VAR_012169 disease phenotype-associated
VAR_012169 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012170 commonName VAR_012170
VAR_012170 disease not phenotype-associated
VAR_012172 commonName VAR_012172
VAR_012172 disease not phenotype-associated
VAR_012173 commonName VAR_012173
VAR_012173 disease not phenotype-associated
VAR_012174 commonName VAR_012174
VAR_012174 disease phenotype-associated
VAR_012174 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_012175 commonName VAR_012175
VAR_012175 disease not phenotype-associated
VAR_012176 commonName VAR_012176
VAR_012176 disease not phenotype-associated
VAR_012177 commonName VAR_012177
VAR_012177 disease not phenotype-associated
VAR_012178 commonName VAR_012178
VAR_012178 disease phenotype-associated
VAR_012178 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_012179 commonName VAR_012179
VAR_012179 disease not phenotype-associated
VAR_012180 commonName VAR_012180
VAR_012180 disease not phenotype-associated
VAR_012181 commonName VAR_012181
VAR_012181 disease not phenotype-associated
VAR_012182 commonName VAR_012182
VAR_012182 disease phenotype-associated
VAR_012182 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012183 commonName VAR_012183
VAR_012183 disease phenotype-associated
VAR_012183 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012184 commonName VAR_012184
VAR_012184 disease not phenotype-associated
VAR_012185 commonName VAR_012185
VAR_012185 disease not phenotype-associated
VAR_012186 commonName VAR_012186
VAR_012186 disease not phenotype-associated
VAR_012187 commonName VAR_012187
VAR_012187 disease phenotype-associated
VAR_012187 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012188 commonName VAR_012188
VAR_012188 disease phenotype-associated
VAR_012188 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012189 commonName VAR_012189
VAR_012189 disease phenotype-associated
VAR_012189 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_012190 commonName VAR_012190
VAR_012190 disease not phenotype-associated
VAR_012191 commonName VAR_012191
VAR_012191 disease not phenotype-associated
VAR_012192 commonName VAR_012192
VAR_012192 disease phenotype-associated
VAR_012192 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
VAR_012193 commonName VAR_012193
VAR_012193 disease phenotype-associated
VAR_012193 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
VAR_012198 commonName VAR_012198
VAR_012198 disease phenotype-associated
VAR_012198 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
VAR_012199 commonName VAR_012199
VAR_012200 commonName VAR_012200
VAR_012200 disease not phenotype-associated
VAR_012201 commonName VAR_012201
VAR_012201 disease not phenotype-associated
VAR_012202 commonName VAR_012202
VAR_012202 disease phenotype-associated
VAR_012202 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]
VAR_012203 commonName VAR_012203
VAR_012203 disease not phenotype-associated
VAR_012205 commonName VAR_012205
VAR_012205 disease not phenotype-associated
VAR_012206 commonName VAR_012206
VAR_012206 disease not phenotype-associated
VAR_012227 commonName VAR_012227
VAR_012227 disease not phenotype-associated
VAR_012228 commonName VAR_012228
VAR_012228 disease not phenotype-associated
VAR_012229 commonName VAR_012229
VAR_012229 disease not phenotype-associated
VAR_012230 commonName VAR_012230
VAR_012230 disease not phenotype-associated
VAR_012231 commonName VAR_012231
VAR_012231 disease not phenotype-associated
VAR_012234 commonName VAR_012234
VAR_012234 disease not phenotype-associated
VAR_012235 commonName VAR_012235
VAR_012236 commonName VAR_012236
VAR_012236 disease not phenotype-associated
VAR_012237 commonName VAR_012237
VAR_012237 disease not phenotype-associated
VAR_012238 commonName VAR_012238
VAR_012238 disease not phenotype-associated
VAR_012239 commonName VAR_012239
VAR_012239 disease not phenotype-associated
VAR_012240 commonName VAR_012240
VAR_012240 disease not phenotype-associated
VAR_012241 commonName VAR_012241
VAR_012241 disease phenotype-associated
VAR_012241 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902]
VAR_012243 commonName VAR_012243
VAR_012243 disease phenotype-associated
VAR_012243 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_012244 commonName VAR_012244
VAR_012244 disease phenotype-associated
VAR_012244 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012245 commonName VAR_012245
VAR_012245 disease phenotype-associated
VAR_012245 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012246 commonName VAR_012246
VAR_012246 disease phenotype-associated
VAR_012246 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012247 commonName VAR_012247
VAR_012247 disease phenotype-associated
VAR_012247 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012248 commonName VAR_012248
VAR_012248 disease phenotype-associated
VAR_012248 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012249 commonName VAR_012249
VAR_012249 disease not phenotype-associated
VAR_012250 commonName VAR_012250
VAR_012250 disease not phenotype-associated
VAR_012251 commonName VAR_012251
VAR_012251 disease not phenotype-associated
VAR_012252 commonName VAR_012252
VAR_012252 disease phenotype-associated
VAR_012252 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012253 commonName VAR_012253
VAR_012253 disease phenotype-associated
VAR_012253 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012254 commonName VAR_012254
VAR_012254 disease not phenotype-associated
VAR_012255 commonName VAR_012255
VAR_012255 disease not phenotype-associated
VAR_012256 commonName VAR_012256
VAR_012256 disease phenotype-associated
VAR_012256 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012257 commonName VAR_012257
VAR_012257 disease not phenotype-associated
VAR_012258 commonName VAR_012258
VAR_012258 disease phenotype-associated
VAR_012258 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012259 commonName VAR_012259
VAR_012259 disease phenotype-associated
VAR_012259 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012260 commonName VAR_012260
VAR_012260 disease phenotype-associated
VAR_012260 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012262 commonName VAR_012262
VAR_012262 disease phenotype-associated
VAR_012262 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012263 commonName VAR_012263
VAR_012263 disease phenotype-associated
VAR_012263 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012264 commonName VAR_012264
VAR_012264 disease phenotype-associated
VAR_012264 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012265 commonName VAR_012265
VAR_012265 disease not phenotype-associated
VAR_012266 commonName VAR_012266
VAR_012266 disease phenotype-associated
VAR_012266 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_012267 commonName VAR_012267
VAR_012267 disease not phenotype-associated
VAR_012268 commonName VAR_012268
VAR_012268 disease phenotype-associated
VAR_012268 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690]
VAR_012269 commonName VAR_012269
VAR_012269 disease phenotype-associated
VAR_012269 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012271 commonName VAR_012271
VAR_012271 disease phenotype-associated
VAR_012271 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012272 commonName VAR_012272
VAR_012272 disease phenotype-associated
VAR_012272 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012273 commonName VAR_012273
VAR_012273 disease phenotype-associated
VAR_012273 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012276 commonName VAR_012276
VAR_012276 disease phenotype-associated
VAR_012276 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012277 commonName VAR_012277
VAR_012277 disease phenotype-associated
VAR_012277 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_012279 commonName VAR_012279
VAR_012279 disease not phenotype-associated
VAR_012280 commonName VAR_012280
VAR_012280 disease phenotype-associated
VAR_012280 phenoCommon Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
VAR_012281 commonName VAR_012281
VAR_012281 disease phenotype-associated
VAR_012281 phenoCommon Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
VAR_012281 phenoCommon Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]
VAR_012282 commonName VAR_012282
VAR_012282 disease not phenotype-associated
VAR_012283 commonName VAR_012283
VAR_012283 disease phenotype-associated
VAR_012283 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_012284 commonName VAR_012284
VAR_012284 disease not phenotype-associated
HbVar.675 ethnic Cypriot
HbVar.675 phenoCommon Hemoglobin variant
HbVar.676 protEffect HBD 118(G19) Asn>Asp
HbVar.676 commonName Hb A2-Liangcheng
HbVar.676 ethnic Chinese
HbVar.676 phenoCommon Hemoglobin variant
VAR_012285 commonName VAR_012285
VAR_012285 disease phenotype-associated
VAR_012285 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_012286 commonName VAR_012286
VAR_012286 disease phenotype-associated
VAR_012286 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_012287 commonName VAR_012287
VAR_012287 disease phenotype-associated
VAR_012287 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_012288 commonName VAR_012288
VAR_012288 disease phenotype-associated
VAR_012288 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_012289 commonName VAR_012289
VAR_012289 disease phenotype-associated
VAR_012289 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012290 commonName VAR_012290
VAR_012290 disease phenotype-associated
VAR_012290 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012291 commonName VAR_012291
VAR_012291 disease phenotype-associated
VAR_012291 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012292 commonName VAR_012292
VAR_012292 disease phenotype-associated
VAR_012292 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012293 commonName VAR_012293
VAR_012293 disease phenotype-associated
VAR_012293 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012295 commonName VAR_012295
VAR_012295 disease not phenotype-associated
VAR_012296 commonName VAR_012296
VAR_012296 disease not phenotype-associated
VAR_012297 commonName VAR_012297
VAR_012297 disease not phenotype-associated
VAR_012298 commonName VAR_012298
VAR_012298 disease not phenotype-associated
VAR_012299 commonName VAR_012299
VAR_012299 disease not phenotype-associated
VAR_012300 commonName VAR_012300
VAR_012300 disease not phenotype-associated
VAR_012301 commonName VAR_012301
VAR_012301 disease not phenotype-associated
VAR_012302 commonName VAR_012302
VAR_012302 disease not phenotype-associated
VAR_012303 commonName VAR_012303
VAR_012303 disease not phenotype-associated
VAR_012304 commonName VAR_012304
VAR_012304 disease not phenotype-associated
VAR_012305 commonName VAR_012305
VAR_012305 disease not phenotype-associated
VAR_012306 commonName VAR_012306
VAR_012306 disease not phenotype-associated
VAR_012307 commonName VAR_012307
VAR_012307 disease not phenotype-associated
VAR_012308 commonName VAR_012308
VAR_012308 disease phenotype-associated
VAR_012308 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_012308 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_012309 commonName VAR_012309
VAR_012309 disease phenotype-associated
VAR_012309 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_012309 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_012310 commonName VAR_012310
VAR_012310 disease phenotype-associated
VAR_012310 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_012311 commonName VAR_012311
VAR_012311 disease phenotype-associated
VAR_012311 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_012311 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_012313 commonName VAR_012313
VAR_012313 disease phenotype-associated
VAR_012313 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_012316 commonName VAR_012316
VAR_012316 disease phenotype-associated
VAR_012316 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_012317 commonName VAR_012317
VAR_012317 disease phenotype-associated
VAR_012317 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_012318 commonName VAR_012318
VAR_012318 disease not phenotype-associated
VAR_012321 commonName VAR_012321
VAR_012321 disease phenotype-associated
VAR_012321 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012322 commonName VAR_012322
VAR_012322 disease phenotype-associated
VAR_012322 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012323 commonName VAR_012323
VAR_012323 disease phenotype-associated
VAR_012323 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012324 commonName VAR_012324
VAR_012324 disease phenotype-associated
VAR_012324 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012325 commonName VAR_012325
VAR_012325 disease phenotype-associated
VAR_012325 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012326 commonName VAR_012326
VAR_012326 disease phenotype-associated
VAR_012326 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012327 commonName VAR_012327
VAR_012327 disease phenotype-associated
VAR_012327 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012328 commonName VAR_012328
VAR_012328 disease phenotype-associated
VAR_012328 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012329 commonName VAR_012329
VAR_012329 disease phenotype-associated
VAR_012329 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012330 commonName VAR_012330
VAR_012330 disease phenotype-associated
VAR_012330 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012331 commonName VAR_012331
VAR_012331 disease phenotype-associated
VAR_012331 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_012334 commonName VAR_012334
VAR_012334 disease phenotype-associated
VAR_012334 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_012335 commonName VAR_012335
VAR_012335 disease phenotype-associated
VAR_012335 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_012336 commonName VAR_012336
VAR_012336 disease phenotype-associated
VAR_012336 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_012337 commonName VAR_012337
VAR_012337 disease phenotype-associated
VAR_012337 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_012338 commonName VAR_012338
VAR_012338 disease phenotype-associated
VAR_012338 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_012339 commonName VAR_012339
VAR_012339 disease phenotype-associated
VAR_012339 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_012340 commonName VAR_012340
VAR_012340 disease phenotype-associated
VAR_012340 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_012341 commonName VAR_012341
VAR_012341 disease phenotype-associated
VAR_012341 phenoCommon Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]
VAR_012342 commonName VAR_012342
VAR_012342 disease not phenotype-associated
VAR_012343 commonName VAR_012343
VAR_012343 disease phenotype-associated
VAR_012343 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]
VAR_012344 commonName VAR_012344
VAR_012344 disease phenotype-associated
VAR_012344 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_012345 commonName VAR_012345
VAR_012345 disease phenotype-associated
VAR_012345 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_012346 commonName VAR_012346
VAR_012346 disease phenotype-associated
VAR_012346 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
VAR_012347 commonName VAR_012347
VAR_012347 disease phenotype-associated
VAR_012347 phenoCommon Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]
VAR_012348 commonName VAR_012348
VAR_012348 disease phenotype-associated
VAR_012348 phenoCommon Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]
VAR_012349 commonName VAR_012349
VAR_012349 disease not phenotype-associated
VAR_012350 commonName VAR_012350
VAR_012350 disease phenotype-associated
VAR_012350 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_012351 commonName VAR_012351
VAR_012351 disease phenotype-associated
VAR_012351 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_012352 commonName VAR_012352
VAR_012352 disease phenotype-associated
VAR_012352 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_012353 commonName VAR_012353
VAR_012353 disease phenotype-associated
VAR_012353 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_012354 commonName VAR_012354
VAR_012354 disease phenotype-associated
VAR_012354 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]
VAR_012355 commonName VAR_012355
VAR_012355 disease not phenotype-associated
VAR_012357 commonName VAR_012357
VAR_012357 disease not phenotype-associated
VAR_012358 commonName VAR_012358
VAR_012358 disease phenotype-associated
VAR_012358 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
VAR_012359 commonName VAR_012359
VAR_012359 disease phenotype-associated
VAR_012359 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
VAR_012360 commonName VAR_012360
VAR_012360 disease phenotype-associated
VAR_012360 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
VAR_012361 commonName VAR_012361
VAR_012361 disease phenotype-associated
VAR_012361 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
VAR_012362 commonName VAR_012362
VAR_012362 disease phenotype-associated
VAR_012362 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012363 commonName VAR_012363
VAR_012363 disease phenotype-associated
VAR_012363 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012364 commonName VAR_012364
VAR_012364 disease phenotype-associated
VAR_012364 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012365 commonName VAR_012365
VAR_012365 disease phenotype-associated
VAR_012365 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012367 commonName VAR_012367
VAR_012367 disease phenotype-associated
VAR_012367 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012368 commonName VAR_012368
VAR_012368 disease phenotype-associated
VAR_012368 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012369 commonName VAR_012369
VAR_012369 disease phenotype-associated
VAR_012369 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012370 commonName VAR_012370
VAR_012370 disease phenotype-associated
VAR_012370 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012371 commonName VAR_012371
VAR_012371 disease phenotype-associated
VAR_012371 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012372 commonName VAR_012372
VAR_012372 disease phenotype-associated
VAR_012372 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012373 commonName VAR_012373
VAR_012373 disease phenotype-associated
VAR_012373 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012374 commonName VAR_012374
VAR_012374 disease phenotype-associated
VAR_012374 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012375 commonName VAR_012375
VAR_012375 disease phenotype-associated
VAR_012375 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012376 commonName VAR_012376
VAR_012376 disease phenotype-associated
VAR_012376 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012377 commonName VAR_012377
VAR_012377 disease phenotype-associated
VAR_012377 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012378 commonName VAR_012378
VAR_012378 disease phenotype-associated
VAR_012378 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012379 commonName VAR_012379
VAR_012379 disease phenotype-associated
VAR_012379 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012380 commonName VAR_012380
VAR_012380 disease phenotype-associated
VAR_012380 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012381 commonName VAR_012381
VAR_012381 disease phenotype-associated
VAR_012381 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012382 commonName VAR_012382
VAR_012382 disease phenotype-associated
VAR_012382 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012383 commonName VAR_012383
VAR_012383 disease phenotype-associated
VAR_012383 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012384 commonName VAR_012384
VAR_012384 disease phenotype-associated
VAR_012384 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012385 commonName VAR_012385
VAR_012385 disease phenotype-associated
VAR_012385 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012386 commonName VAR_012386
VAR_012386 disease phenotype-associated
VAR_012386 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012387 commonName VAR_012387
VAR_012387 disease phenotype-associated
VAR_012387 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012388 commonName VAR_012388
VAR_012388 disease phenotype-associated
VAR_012388 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012389 commonName VAR_012389
VAR_012389 disease phenotype-associated
VAR_012389 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012390 commonName VAR_012390
VAR_012390 disease phenotype-associated
VAR_012390 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012391 commonName VAR_012391
VAR_012391 disease phenotype-associated
VAR_012391 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012392 commonName VAR_012392
VAR_012392 disease phenotype-associated
VAR_012392 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012393 commonName VAR_012393
VAR_012393 disease phenotype-associated
VAR_012393 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012394 commonName VAR_012394
VAR_012394 disease phenotype-associated
VAR_012394 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012395 commonName VAR_012395
VAR_012395 disease phenotype-associated
VAR_012395 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012396 commonName VAR_012396
VAR_012396 disease phenotype-associated
VAR_012396 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012397 commonName VAR_012397
VAR_012397 disease phenotype-associated
VAR_012397 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012398 commonName VAR_012398
VAR_012398 disease phenotype-associated
VAR_012398 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012400 commonName VAR_012400
VAR_012400 disease phenotype-associated
VAR_012400 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012401 commonName VAR_012401
VAR_012401 disease phenotype-associated
VAR_012401 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012402 commonName VAR_012402
VAR_012402 disease phenotype-associated
VAR_012402 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012403 commonName VAR_012403
VAR_012403 disease phenotype-associated
VAR_012403 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012404 commonName VAR_012404
VAR_012404 disease phenotype-associated
VAR_012404 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012405 commonName VAR_012405
VAR_012405 disease phenotype-associated
VAR_012405 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012406 commonName VAR_012406
VAR_012406 disease phenotype-associated
VAR_012406 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012407 commonName VAR_012407
VAR_012407 disease phenotype-associated
VAR_012407 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012408 commonName VAR_012408
VAR_012408 disease phenotype-associated
VAR_012408 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012409 commonName VAR_012409
VAR_012409 disease phenotype-associated
VAR_012409 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012410 commonName VAR_012410
VAR_012410 disease phenotype-associated
VAR_012410 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012411 commonName VAR_012411
VAR_012411 disease phenotype-associated
VAR_012411 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012412 commonName VAR_012412
VAR_012412 disease phenotype-associated
VAR_012412 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012413 commonName VAR_012413
VAR_012413 disease phenotype-associated
VAR_012413 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012414 commonName VAR_012414
VAR_012414 disease phenotype-associated
VAR_012414 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012415 commonName VAR_012415
VAR_012415 disease phenotype-associated
VAR_012415 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012416 commonName VAR_012416
VAR_012416 disease phenotype-associated
VAR_012416 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012418 commonName VAR_012418
VAR_012418 disease phenotype-associated
VAR_012418 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012419 commonName VAR_012419
VAR_012419 disease phenotype-associated
VAR_012419 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012420 commonName VAR_012420
VAR_012420 disease phenotype-associated
VAR_012420 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012421 commonName VAR_012421
VAR_012421 disease phenotype-associated
VAR_012421 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012422 commonName VAR_012422
VAR_012422 disease phenotype-associated
VAR_012422 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012423 commonName VAR_012423
VAR_012423 disease phenotype-associated
VAR_012423 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012424 commonName VAR_012424
VAR_012424 disease phenotype-associated
VAR_012424 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012425 commonName VAR_012425
VAR_012425 disease phenotype-associated
VAR_012425 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012426 commonName VAR_012426
VAR_012426 disease phenotype-associated
VAR_012426 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012427 commonName VAR_012427
VAR_012427 disease phenotype-associated
VAR_012427 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012430 commonName VAR_012430
VAR_012430 disease phenotype-associated
VAR_012430 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012431 commonName VAR_012431
VAR_012431 disease phenotype-associated
VAR_012431 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012432 commonName VAR_012432
VAR_012432 disease phenotype-associated
VAR_012432 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012433 commonName VAR_012433
VAR_012433 disease phenotype-associated
VAR_012433 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012434 commonName VAR_012434
VAR_012434 disease phenotype-associated
VAR_012434 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012435 commonName VAR_012435
VAR_012435 disease phenotype-associated
VAR_012435 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012436 commonName VAR_012436
VAR_012436 disease phenotype-associated
VAR_012436 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012437 commonName VAR_012437
VAR_012437 disease phenotype-associated
VAR_012437 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012438 commonName VAR_012438
VAR_012438 disease phenotype-associated
VAR_012438 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012439 commonName VAR_012439
VAR_012439 disease phenotype-associated
VAR_012439 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012440 commonName VAR_012440
VAR_012440 disease phenotype-associated
VAR_012440 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012441 commonName VAR_012441
VAR_012441 disease phenotype-associated
VAR_012441 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_012443 commonName VAR_012443
VAR_012443 disease not phenotype-associated
VAR_012444 commonName VAR_012444
VAR_012444 disease phenotype-associated
VAR_012444 phenoCommon Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]
VAR_012451 commonName VAR_012451
VAR_012451 disease not phenotype-associated
VAR_012452 commonName VAR_012452
VAR_012452 disease not phenotype-associated
VAR_012453 commonName VAR_012453
VAR_012453 disease phenotype-associated
VAR_012453 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012454 commonName VAR_012454
VAR_012454 disease phenotype-associated
VAR_012454 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012455 commonName VAR_012455
VAR_012455 disease phenotype-associated
VAR_012455 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012456 commonName VAR_012456
VAR_012456 disease phenotype-associated
VAR_012456 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012457 commonName VAR_012457
VAR_012458 commonName VAR_012458
VAR_012458 disease not phenotype-associated
VAR_012460 commonName VAR_012460
VAR_012460 disease not phenotype-associated
VAR_012462 commonName VAR_012462
VAR_012462 disease phenotype-associated
VAR_012462 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012463 commonName VAR_012463
VAR_012464 commonName VAR_012464
VAR_012464 disease phenotype-associated
VAR_012464 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012465 commonName VAR_012465
VAR_012465 disease not phenotype-associated
VAR_012467 commonName VAR_012467
VAR_012467 disease phenotype-associated
VAR_012467 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012468 commonName VAR_012468
VAR_012468 disease phenotype-associated
VAR_012468 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012469 commonName VAR_012469
VAR_012469 disease phenotype-associated
VAR_012469 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012470 commonName VAR_012470
VAR_012470 disease not phenotype-associated
VAR_012471 commonName VAR_012471
VAR_012471 disease phenotype-associated
VAR_012471 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_012476 commonName VAR_012476
VAR_012476 disease phenotype-associated
VAR_012476 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]
VAR_012477 commonName VAR_012477
VAR_012477 disease not phenotype-associated
VAR_012478 commonName VAR_012478
VAR_012478 disease not phenotype-associated
VAR_012479 commonName VAR_012479
VAR_012479 disease not phenotype-associated
VAR_012480 commonName VAR_012480
VAR_012480 disease not phenotype-associated
VAR_012481 commonName VAR_012481
VAR_012482 commonName VAR_012482
VAR_012482 disease not phenotype-associated
VAR_012483 commonName VAR_012483
VAR_012483 disease phenotype-associated
VAR_012483 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_012484 commonName VAR_012484
VAR_012484 disease phenotype-associated
VAR_012484 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_012485 commonName VAR_012485
VAR_012485 disease phenotype-associated
VAR_012485 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_012487 commonName VAR_012487
VAR_012487 disease phenotype-associated
VAR_012487 phenoCommon Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]
VAR_012488 commonName VAR_012488
VAR_012488 disease not phenotype-associated
VAR_012489 commonName VAR_012489
VAR_012489 disease not phenotype-associated
VAR_012490 commonName VAR_012490
VAR_012490 disease not phenotype-associated
VAR_012491 commonName VAR_012491
VAR_012491 disease not phenotype-associated
VAR_012492 commonName VAR_012492
VAR_012492 disease not phenotype-associated
VAR_012493 commonName VAR_012493
VAR_012493 disease phenotype-associated
VAR_012493 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012495 commonName VAR_012495
VAR_012495 disease phenotype-associated
VAR_012495 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012496 commonName VAR_012496
VAR_012496 disease phenotype-associated
VAR_012496 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012497 commonName VAR_012497
VAR_012497 disease phenotype-associated
VAR_012497 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012498 commonName VAR_012498
VAR_012498 disease phenotype-associated
VAR_012498 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012499 commonName VAR_012499
VAR_012499 disease phenotype-associated
VAR_012499 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012500 commonName VAR_012500
VAR_012500 disease phenotype-associated
VAR_012500 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012501 commonName VAR_012501
VAR_012501 disease phenotype-associated
VAR_012501 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012502 commonName VAR_012502
VAR_012502 disease phenotype-associated
VAR_012502 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012503 commonName VAR_012503
VAR_012503 disease not phenotype-associated
VAR_012504 commonName VAR_012504
VAR_012504 disease phenotype-associated
VAR_012504 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012505 commonName VAR_012505
VAR_012505 disease phenotype-associated
VAR_012505 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012506 commonName VAR_012506
VAR_012506 disease phenotype-associated
VAR_012506 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012507 commonName VAR_012507
VAR_012507 disease not phenotype-associated
VAR_012508 commonName VAR_012508
VAR_012508 disease phenotype-associated
VAR_012508 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012509 commonName VAR_012509
VAR_012509 disease phenotype-associated
VAR_012509 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012510 commonName VAR_012510
VAR_012510 disease phenotype-associated
VAR_012510 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012511 commonName VAR_012511
VAR_012511 disease phenotype-associated
VAR_012511 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012512 commonName VAR_012512
VAR_012512 disease phenotype-associated
VAR_012512 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012513 commonName VAR_012513
VAR_012513 disease phenotype-associated
VAR_012513 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012514 commonName VAR_012514
VAR_012514 disease phenotype-associated
VAR_012514 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012515 commonName VAR_012515
VAR_012515 disease phenotype-associated
VAR_012515 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012516 commonName VAR_012516
VAR_012516 disease phenotype-associated
VAR_012516 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012517 commonName VAR_012517
VAR_012517 disease not phenotype-associated
VAR_012518 commonName VAR_012518
VAR_012518 disease phenotype-associated
VAR_012518 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012519 commonName VAR_012519
VAR_012519 disease phenotype-associated
VAR_012519 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012520 commonName VAR_012520
VAR_012520 disease phenotype-associated
VAR_012520 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012521 commonName VAR_012521
VAR_012521 disease phenotype-associated
VAR_012521 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012522 commonName VAR_012522
VAR_012522 disease not phenotype-associated
VAR_012523 commonName VAR_012523
VAR_012523 disease phenotype-associated
VAR_012523 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012524 commonName VAR_012524
VAR_012524 disease phenotype-associated
VAR_012524 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012525 commonName VAR_012525
VAR_012525 disease phenotype-associated
VAR_012525 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012526 commonName VAR_012526
VAR_012526 disease phenotype-associated
VAR_012526 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012527 commonName VAR_012527
VAR_012527 disease phenotype-associated
VAR_012527 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012528 commonName VAR_012528
VAR_012528 disease phenotype-associated
VAR_012528 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012529 commonName VAR_012529
VAR_012529 disease phenotype-associated
VAR_012529 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012530 commonName VAR_012530
VAR_012530 disease phenotype-associated
VAR_012530 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012531 commonName VAR_012531
VAR_012531 disease phenotype-associated
VAR_012531 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012532 commonName VAR_012532
VAR_012532 disease phenotype-associated
VAR_012532 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012533 commonName VAR_012533
VAR_012533 disease phenotype-associated
VAR_012533 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012534 commonName VAR_012534
VAR_012534 disease phenotype-associated
VAR_012534 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012535 commonName VAR_012535
VAR_012535 disease phenotype-associated
VAR_012535 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012536 commonName VAR_012536
VAR_012536 disease phenotype-associated
VAR_012536 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012537 commonName VAR_012537
VAR_012537 disease phenotype-associated
VAR_012537 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012538 commonName VAR_012538
VAR_012538 disease phenotype-associated
VAR_012538 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012539 commonName VAR_012539
VAR_012539 disease phenotype-associated
VAR_012539 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012541 commonName VAR_012541
VAR_012541 disease phenotype-associated
VAR_012541 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012542 commonName VAR_012542
VAR_012542 disease phenotype-associated
VAR_012542 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012543 commonName VAR_012543
VAR_012543 disease not phenotype-associated
VAR_012544 commonName VAR_012544
VAR_012544 disease phenotype-associated
VAR_012544 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012545 commonName VAR_012545
VAR_012545 disease phenotype-associated
VAR_012545 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012545 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012546 commonName VAR_012546
VAR_012546 disease phenotype-associated
VAR_012546 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012547 commonName VAR_012547
VAR_012547 disease phenotype-associated
VAR_012547 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012548 commonName VAR_012548
VAR_012548 disease phenotype-associated
VAR_012548 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012549 commonName VAR_012549
VAR_012549 disease phenotype-associated
VAR_012549 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012550 commonName VAR_012550
VAR_012550 disease phenotype-associated
VAR_012550 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012551 commonName VAR_012551
VAR_012551 disease phenotype-associated
VAR_012551 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012552 commonName VAR_012552
VAR_012552 disease phenotype-associated
VAR_012552 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012553 commonName VAR_012553
VAR_012553 disease phenotype-associated
VAR_012553 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012554 commonName VAR_012554
VAR_012554 disease phenotype-associated
VAR_012554 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012555 commonName VAR_012555
VAR_012555 disease phenotype-associated
VAR_012555 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012556 commonName VAR_012556
VAR_012556 disease phenotype-associated
VAR_012556 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012557 commonName VAR_012557
VAR_012557 disease phenotype-associated
VAR_012557 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012558 commonName VAR_012558
VAR_012558 disease phenotype-associated
VAR_012558 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012559 commonName VAR_012559
VAR_012559 disease phenotype-associated
VAR_012559 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012560 commonName VAR_012560
VAR_012560 disease phenotype-associated
VAR_012560 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012561 commonName VAR_012561
VAR_012561 disease phenotype-associated
VAR_012561 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012562 commonName VAR_012562
VAR_012562 disease phenotype-associated
VAR_012562 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012562 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012563 commonName VAR_012563
VAR_012563 disease phenotype-associated
VAR_012563 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012564 commonName VAR_012564
VAR_012564 disease phenotype-associated
VAR_012564 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012565 commonName VAR_012565
VAR_012565 disease phenotype-associated
VAR_012565 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012566 commonName VAR_012566
VAR_012566 disease not phenotype-associated
VAR_012567 commonName VAR_012567
VAR_012567 disease phenotype-associated
VAR_012567 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012568 commonName VAR_012568
VAR_012568 disease phenotype-associated
VAR_012568 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012569 commonName VAR_012569
VAR_012569 disease phenotype-associated
VAR_012569 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012570 commonName VAR_012570
VAR_012570 disease phenotype-associated
VAR_012570 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012571 commonName VAR_012571
VAR_012571 disease phenotype-associated
VAR_012571 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012572 commonName VAR_012572
VAR_012572 disease phenotype-associated
VAR_012572 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012573 commonName VAR_012573
VAR_012573 disease phenotype-associated
VAR_012573 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012574 commonName VAR_012574
VAR_012574 disease phenotype-associated
VAR_012574 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012575 commonName VAR_012575
VAR_012575 disease phenotype-associated
VAR_012575 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012576 commonName VAR_012576
VAR_012576 disease phenotype-associated
VAR_012576 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012577 commonName VAR_012577
VAR_012577 disease phenotype-associated
VAR_012577 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012578 commonName VAR_012578
VAR_012578 disease phenotype-associated
VAR_012578 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012579 commonName VAR_012579
VAR_012579 disease phenotype-associated
VAR_012579 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012580 commonName VAR_012580
HbVar.677 protEffect HBD 122(GH4) Glu>Val
VAR_012580 disease phenotype-associated
VAR_012580 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012581 commonName VAR_012581
VAR_012581 disease phenotype-associated
VAR_012581 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_012582 commonName VAR_012582
VAR_012582 disease not phenotype-associated
VAR_012583 commonName VAR_012583
VAR_012583 disease phenotype-associated
VAR_012583 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_012583 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012583 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012585 commonName VAR_012585
VAR_012585 disease phenotype-associated
VAR_012585 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012586 commonName VAR_012586
VAR_012586 disease phenotype-associated
VAR_012586 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012587 commonName VAR_012587
VAR_012587 disease phenotype-associated
VAR_012587 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012588 commonName VAR_012588
VAR_012588 disease phenotype-associated
VAR_012588 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012589 commonName VAR_012589
VAR_012589 disease phenotype-associated
VAR_012589 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012590 commonName VAR_012590
VAR_012590 disease phenotype-associated
VAR_012590 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012592 commonName VAR_012592
VAR_012592 disease phenotype-associated
VAR_012592 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012593 commonName VAR_012593
VAR_012593 disease phenotype-associated
VAR_012593 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012594 commonName VAR_012594
VAR_012594 disease phenotype-associated
VAR_012594 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012595 commonName VAR_012595
VAR_012595 disease phenotype-associated
VAR_012595 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012596 commonName VAR_012596
VAR_012596 disease phenotype-associated
VAR_012596 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012597 commonName VAR_012597
VAR_012597 disease not phenotype-associated
VAR_012598 commonName VAR_012598
VAR_012598 disease phenotype-associated
VAR_012598 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012599 commonName VAR_012599
VAR_012599 disease phenotype-associated
VAR_012599 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012600 commonName VAR_012600
VAR_012600 disease phenotype-associated
VAR_012600 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012601 commonName VAR_012601
VAR_012601 disease not phenotype-associated
VAR_012602 commonName VAR_012602
VAR_012602 disease phenotype-associated
VAR_012602 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012602 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012603 commonName VAR_012603
VAR_012603 disease phenotype-associated
VAR_012603 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200]
VAR_012604 commonName VAR_012604
VAR_012604 disease phenotype-associated
VAR_012604 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012605 commonName VAR_012605
VAR_012605 disease phenotype-associated
VAR_012605 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012606 commonName VAR_012606
VAR_012606 disease not phenotype-associated
VAR_012607 commonName VAR_012607
VAR_012607 disease phenotype-associated
VAR_012607 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_012608 commonName VAR_012608
VAR_012608 disease phenotype-associated
VAR_012608 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012609 commonName VAR_012609
VAR_012609 disease phenotype-associated
VAR_012609 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012610 commonName VAR_012610
VAR_012610 disease phenotype-associated
VAR_012610 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012611 commonName VAR_012611
VAR_012611 disease phenotype-associated
VAR_012611 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
VAR_012612 commonName VAR_012612
VAR_012612 disease phenotype-associated
VAR_012612 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012613 commonName VAR_012613
VAR_012613 disease phenotype-associated
VAR_012613 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012614 commonName VAR_012614
VAR_012614 disease not phenotype-associated
VAR_012615 commonName VAR_012615
VAR_012615 disease phenotype-associated
VAR_012615 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012616 commonName VAR_012616
VAR_012616 disease phenotype-associated
VAR_012616 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012617 commonName VAR_012617
VAR_012617 disease phenotype-associated
VAR_012617 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_012618 commonName VAR_012618
VAR_012618 disease not phenotype-associated
VAR_012619 commonName VAR_012619
VAR_012619 disease phenotype-associated
VAR_012619 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_012620 commonName VAR_012620
VAR_012620 disease phenotype-associated
VAR_012620 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_012621 commonName VAR_012621
VAR_012621 disease not phenotype-associated
VAR_012622 commonName VAR_012622
VAR_012622 disease not phenotype-associated
VAR_012623 commonName VAR_012623
VAR_012624 commonName VAR_012624
VAR_012624 disease not phenotype-associated
VAR_012625 commonName VAR_012625
VAR_012625 disease not phenotype-associated
VAR_012626 commonName VAR_012626
VAR_012626 disease phenotype-associated
VAR_012626 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_012627 commonName VAR_012627
VAR_012627 disease phenotype-associated
VAR_012627 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_012628 commonName VAR_012628
VAR_012628 disease phenotype-associated
VAR_012628 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_012629 commonName VAR_012629
VAR_012629 disease not phenotype-associated
VAR_012630 commonName VAR_012630
VAR_012630 disease phenotype-associated
VAR_012630 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_012631 commonName VAR_012631
VAR_012631 disease not phenotype-associated
VAR_012632 commonName VAR_012632
VAR_012633 commonName VAR_012633
VAR_012633 disease not phenotype-associated
VAR_012635 commonName VAR_012635
VAR_012635 disease phenotype-associated
VAR_012635 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_012636 commonName VAR_012636
VAR_012636 disease phenotype-associated
VAR_012636 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_012637 commonName VAR_012637
VAR_012637 disease not phenotype-associated
VAR_012638 commonName VAR_012638
VAR_012638 disease not phenotype-associated
VAR_012639 commonName VAR_012639
VAR_012639 disease not phenotype-associated
VAR_012640 commonName VAR_012640
VAR_012640 disease phenotype-associated
VAR_012640 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
VAR_012642 commonName VAR_012642
VAR_012642 disease not phenotype-associated
VAR_012643 commonName VAR_012643
VAR_012643 disease phenotype-associated
VAR_012643 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102]
VAR_012644 commonName VAR_012644
VAR_012644 disease phenotype-associated
VAR_012644 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102]
VAR_012645 commonName VAR_012645
VAR_012645 disease phenotype-associated
VAR_012645 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102]
VAR_012646 commonName VAR_012646
VAR_012646 disease phenotype-associated
VAR_012646 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102]
VAR_012647 commonName VAR_012647
VAR_012647 disease phenotype-associated
VAR_012647 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102]
VAR_012648 commonName VAR_012648
VAR_012648 disease phenotype-associated
VAR_012648 phenoCommon Complement component 9 deficiency (C9D) [MIM:613825]
VAR_012649 commonName VAR_012649
VAR_012649 disease phenotype-associated
VAR_012649 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_012651 commonName VAR_012651
VAR_012651 disease phenotype-associated
VAR_012651 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012652 commonName VAR_012652
VAR_012652 disease phenotype-associated
VAR_012652 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012653 commonName VAR_012653
VAR_012653 disease phenotype-associated
VAR_012653 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012654 commonName VAR_012654
VAR_012654 disease phenotype-associated
VAR_012654 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012655 commonName VAR_012655
VAR_012655 disease phenotype-associated
VAR_012655 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012656 commonName VAR_012656
VAR_012656 disease not phenotype-associated
VAR_012657 commonName VAR_012657
VAR_012657 disease phenotype-associated
VAR_012657 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
VAR_012658 commonName VAR_012658
VAR_012658 disease phenotype-associated
VAR_012658 phenoCommon Intervertebral disc disease (IDD) [MIM:603932]
VAR_012659 commonName VAR_012659
VAR_012659 disease not phenotype-associated
VAR_012662 commonName VAR_012662
VAR_012663 commonName VAR_012663
VAR_012664 commonName VAR_012664
VAR_012665 commonName VAR_012665
VAR_012665 disease not phenotype-associated
VAR_012666 commonName VAR_012666
VAR_012667 commonName VAR_012667
VAR_012667 disease not phenotype-associated
VAR_012668 commonName VAR_012668
VAR_012669 commonName VAR_012669
VAR_012670 commonName VAR_012670
VAR_012670 disease not phenotype-associated
VAR_012671 commonName VAR_012671
VAR_012671 disease not phenotype-associated
VAR_012672 commonName VAR_012672
VAR_012673 commonName VAR_012673
VAR_012674 commonName VAR_012674
VAR_012675 commonName VAR_012675
VAR_012676 commonName VAR_012676
VAR_012676 disease phenotype-associated
VAR_012676 phenoCommon Blau syndrome (BS) [MIM:186580]
VAR_012677 commonName VAR_012677
VAR_012677 disease phenotype-associated
VAR_012677 phenoCommon Blau syndrome (BS) [MIM:186580]
VAR_012678 commonName VAR_012678
VAR_012679 commonName VAR_012679
VAR_012679 disease not phenotype-associated
VAR_012680 commonName VAR_012680
VAR_012681 commonName VAR_012681
VAR_012682 commonName VAR_012682
VAR_012683 commonName VAR_012683
VAR_012683 disease not phenotype-associated
VAR_012684 commonName VAR_012684
VAR_012685 commonName VAR_012685
VAR_012685 disease phenotype-associated
VAR_012685 phenoCommon Blau syndrome (BS) [MIM:186580]
VAR_012686 commonName VAR_012686
VAR_012686 disease phenotype-associated
VAR_012686 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464]
VAR_012687 commonName VAR_012687
VAR_012688 commonName VAR_012688
VAR_012688 disease not phenotype-associated
VAR_012689 commonName VAR_012689
VAR_012689 disease not phenotype-associated
VAR_012690 commonName VAR_012690
VAR_012690 disease not phenotype-associated
VAR_012691 commonName VAR_012691
VAR_012692 commonName VAR_012692
VAR_012692 disease not phenotype-associated
VAR_012693 commonName VAR_012693
VAR_012694 commonName VAR_012694
VAR_012695 commonName VAR_012695
VAR_012696 commonName VAR_012696
VAR_012706 commonName VAR_012706
VAR_012706 disease phenotype-associated
VAR_012706 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
VAR_012707 commonName VAR_012707
VAR_012707 disease phenotype-associated
VAR_012707 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
VAR_012708 commonName VAR_012708
VAR_012708 disease not phenotype-associated
VAR_012710 commonName VAR_012710
VAR_012710 disease phenotype-associated
VAR_012710 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_012711 commonName VAR_012711
VAR_012711 disease phenotype-associated
VAR_012711 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_012712 commonName VAR_012712
VAR_012712 disease phenotype-associated
VAR_012712 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_012713 commonName VAR_012713
VAR_012713 disease phenotype-associated
VAR_012713 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_012714 commonName VAR_012714
VAR_012714 disease phenotype-associated
VAR_012714 phenoCommon Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]
VAR_012715 commonName VAR_012715
VAR_012715 disease phenotype-associated
VAR_012715 phenoCommon Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]
VAR_012716 commonName VAR_012716
VAR_012716 disease not phenotype-associated
VAR_012717 commonName VAR_012717
VAR_012717 disease phenotype-associated
VAR_012717 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012718 commonName VAR_012718
VAR_012718 disease phenotype-associated
VAR_012718 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012719 commonName VAR_012719
VAR_012719 disease phenotype-associated
VAR_012719 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012720 commonName VAR_012720
VAR_012720 disease phenotype-associated
VAR_012720 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012721 commonName VAR_012721
VAR_012721 disease phenotype-associated
VAR_012721 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012722 commonName VAR_012722
VAR_012722 disease phenotype-associated
VAR_012722 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012723 commonName VAR_012723
VAR_012723 disease phenotype-associated
VAR_012723 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012724 commonName VAR_012724
VAR_012724 disease phenotype-associated
VAR_012724 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012725 commonName VAR_012725
VAR_012725 disease phenotype-associated
VAR_012725 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012726 commonName VAR_012726
VAR_012726 disease phenotype-associated
VAR_012726 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012727 commonName VAR_012727
VAR_012727 disease phenotype-associated
VAR_012727 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012728 commonName VAR_012728
VAR_012728 disease phenotype-associated
VAR_012728 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012729 commonName VAR_012729
VAR_012729 disease phenotype-associated
VAR_012729 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012730 commonName VAR_012730
VAR_012730 disease phenotype-associated
VAR_012730 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_012731 commonName VAR_012731
VAR_012731 disease not phenotype-associated
VAR_012732 commonName VAR_012732
VAR_012732 disease phenotype-associated
VAR_012732 phenoCommon Desmosterolosis (DESMOS) [MIM:602398]
VAR_012733 commonName VAR_012733
VAR_012733 disease phenotype-associated
VAR_012733 phenoCommon Desmosterolosis (DESMOS) [MIM:602398]
VAR_012734 commonName VAR_012734
VAR_012734 disease phenotype-associated
VAR_012734 phenoCommon Desmosterolosis (DESMOS) [MIM:602398]
VAR_012735 commonName VAR_012735
VAR_012735 disease phenotype-associated
VAR_012735 phenoCommon Desmosterolosis (DESMOS) [MIM:602398]
VAR_012737 commonName VAR_012737
VAR_012737 disease not phenotype-associated
VAR_012738 commonName VAR_012738
VAR_012738 disease phenotype-associated
VAR_012738 phenoCommon Hemochromatosis type 3 (HFE3) [MIM:604250]
VAR_012739 commonName VAR_012739
VAR_012739 disease not phenotype-associated
VAR_012740 commonName VAR_012740
VAR_012740 disease not phenotype-associated
VAR_012741 commonName VAR_012741
VAR_012741 disease not phenotype-associated
VAR_012742 commonName VAR_012742
VAR_012742 disease phenotype-associated
VAR_012742 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_012743 commonName VAR_012743
VAR_012743 disease phenotype-associated
VAR_012743 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_012744 commonName VAR_012744
VAR_012744 disease phenotype-associated
VAR_012744 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_012745 commonName VAR_012745
VAR_012745 disease phenotype-associated
VAR_012745 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240]
VAR_012746 commonName VAR_012746
VAR_012746 disease phenotype-associated
VAR_012746 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_012748 commonName VAR_012748
VAR_012748 disease phenotype-associated
VAR_012748 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_012750 commonName VAR_012750
VAR_012750 disease not phenotype-associated
VAR_012751 commonName VAR_012751
VAR_012751 disease not phenotype-associated
VAR_012752 commonName VAR_012752
VAR_012752 disease not phenotype-associated
VAR_012753 commonName VAR_012753
VAR_012753 disease phenotype-associated
VAR_012753 phenoCommon The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]
VAR_012754 commonName VAR_012754
VAR_012754 disease phenotype-associated
VAR_012754 phenoCommon The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]
VAR_012755 commonName VAR_012755
VAR_012755 disease phenotype-associated
VAR_012755 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_012756 commonName VAR_012756
VAR_012756 disease not phenotype-associated
VAR_012757 commonName VAR_012757
VAR_012757 disease phenotype-associated
VAR_012757 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_012758 commonName VAR_012758
VAR_012758 disease phenotype-associated
VAR_012758 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_012759 commonName VAR_012759
VAR_012759 disease phenotype-associated
VAR_012759 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_012760 commonName VAR_012760
VAR_012760 disease phenotype-associated
VAR_012760 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_012762 commonName VAR_012762
VAR_012762 disease phenotype-associated
VAR_012762 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_012765 commonName VAR_012765
VAR_012765 disease phenotype-associated
VAR_012765 phenoCommon Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]
VAR_012766 commonName VAR_012766
VAR_012766 disease phenotype-associated
VAR_012766 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
VAR_012767 commonName VAR_012767
VAR_012767 disease phenotype-associated
VAR_012767 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
VAR_012768 commonName VAR_012768
VAR_012768 disease not phenotype-associated
VAR_012769 commonName VAR_012769
VAR_012769 disease phenotype-associated
VAR_012769 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]
VAR_012770 commonName VAR_012770
VAR_012770 disease phenotype-associated
VAR_012770 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]
VAR_012771 commonName VAR_012771
VAR_012771 disease phenotype-associated
VAR_012771 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]
VAR_012772 commonName VAR_012772
VAR_012772 disease phenotype-associated
VAR_012772 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]
VAR_012774 commonName VAR_012774
VAR_012774 disease phenotype-associated
VAR_012774 phenoCommon LIG4 syndrome (LIG4S) [MIM:606593]
VAR_012775 commonName VAR_012775
VAR_012775 disease phenotype-associated
VAR_012775 phenoCommon LIG4 syndrome (LIG4S) [MIM:606593]
VAR_012776 commonName VAR_012776
VAR_012776 disease not phenotype-associated
VAR_012777 commonName VAR_012777
VAR_012777 disease phenotype-associated
VAR_012777 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_012778 commonName VAR_012778
VAR_012778 disease phenotype-associated
VAR_012778 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_012779 commonName VAR_012779
VAR_012779 disease not phenotype-associated
VAR_012780 commonName VAR_012780
VAR_012780 disease not phenotype-associated
VAR_012781 commonName VAR_012781
VAR_012781 disease not phenotype-associated
VAR_012782 commonName VAR_012782
VAR_012782 disease not phenotype-associated
VAR_012783 commonName VAR_012783
VAR_012783 disease not phenotype-associated
VAR_012784 commonName VAR_012784
VAR_012784 disease not phenotype-associated
VAR_012785 commonName VAR_012785
VAR_012785 disease phenotype-associated
VAR_012785 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012786 commonName VAR_012786
VAR_012786 disease phenotype-associated
VAR_012786 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012787 commonName VAR_012787
VAR_012787 disease phenotype-associated
VAR_012787 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012788 commonName VAR_012788
VAR_012788 disease phenotype-associated
VAR_012788 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012789 commonName VAR_012789
VAR_012789 disease not phenotype-associated
VAR_012790 commonName VAR_012790
VAR_012790 disease phenotype-associated
VAR_012790 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012791 commonName VAR_012791
VAR_012791 disease phenotype-associated
VAR_012791 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_012792 commonName VAR_012792
VAR_012792 disease phenotype-associated
VAR_012792 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012793 commonName VAR_012793
VAR_012793 disease phenotype-associated
VAR_012793 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012794 commonName VAR_012794
VAR_012794 disease phenotype-associated
VAR_012794 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012795 commonName VAR_012795
VAR_012795 disease phenotype-associated
VAR_012795 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012796 commonName VAR_012796
VAR_012796 disease phenotype-associated
VAR_012796 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012797 commonName VAR_012797
VAR_012797 disease phenotype-associated
VAR_012797 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012798 commonName VAR_012798
VAR_012798 disease phenotype-associated
VAR_012798 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012799 commonName VAR_012799
VAR_012799 disease phenotype-associated
VAR_012799 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012800 commonName VAR_012800
VAR_012800 disease phenotype-associated
VAR_012800 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012801 commonName VAR_012801
VAR_012801 disease phenotype-associated
VAR_012801 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_012802 commonName VAR_012802
VAR_012802 disease phenotype-associated
VAR_012802 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695]
VAR_012803 commonName VAR_012803
VAR_012803 disease phenotype-associated
VAR_012803 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150]
VAR_012804 commonName VAR_012804
VAR_012804 disease phenotype-associated
VAR_012804 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
VAR_012805 commonName VAR_012805
VAR_012805 disease phenotype-associated
VAR_012805 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
VAR_012806 commonName VAR_012806
VAR_012806 disease phenotype-associated
VAR_012806 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
VAR_012807 commonName VAR_012807
VAR_012807 disease phenotype-associated
VAR_012807 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]
VAR_012808 commonName VAR_012808
VAR_012808 disease phenotype-associated
VAR_012808 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]
VAR_012809 commonName VAR_012809
VAR_012809 disease phenotype-associated
VAR_012809 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]
VAR_012810 commonName VAR_012810
VAR_012810 disease phenotype-associated
VAR_012810 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]
VAR_012811 commonName VAR_012811
VAR_012811 disease phenotype-associated
VAR_012811 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]
VAR_012812 commonName VAR_012812
VAR_012812 disease not phenotype-associated
VAR_012813 commonName VAR_012813
VAR_012813 disease not phenotype-associated
VAR_012814 commonName VAR_012814
VAR_012814 disease not phenotype-associated
VAR_012815 commonName VAR_012815
VAR_012815 disease phenotype-associated
VAR_012815 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_012816 commonName VAR_012816
VAR_012816 disease phenotype-associated
VAR_012816 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_012820 commonName VAR_012820
VAR_012820 disease phenotype-associated
VAR_012820 phenoCommon Chondrosarcoma (CHDSA) [MIM:215300]
VAR_012821 commonName VAR_012821
VAR_012821 disease phenotype-associated
VAR_012821 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_012822 commonName VAR_012822
VAR_012822 disease phenotype-associated
VAR_012822 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
VAR_012823 commonName VAR_012823
VAR_012823 disease phenotype-associated
VAR_012823 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012824 commonName VAR_012824
VAR_012824 disease phenotype-associated
VAR_012824 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012825 commonName VAR_012825
VAR_012825 disease phenotype-associated
VAR_012825 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012826 commonName VAR_012826
VAR_012826 disease phenotype-associated
VAR_012826 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012827 commonName VAR_012827
VAR_012827 disease phenotype-associated
VAR_012827 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012828 commonName VAR_012828
VAR_012828 disease phenotype-associated
VAR_012828 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
VAR_012829 commonName VAR_012829
VAR_012830 commonName VAR_012830
VAR_012830 disease not phenotype-associated
VAR_012831 commonName VAR_012831
VAR_012831 disease not phenotype-associated
VAR_012832 commonName VAR_012832
VAR_012832 disease not phenotype-associated
VAR_012833 commonName VAR_012833
VAR_012833 disease not phenotype-associated
VAR_012834 commonName VAR_012834
VAR_012834 disease phenotype-associated
VAR_012834 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_012835 commonName VAR_012835
VAR_012835 disease phenotype-associated
VAR_012835 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_012836 commonName VAR_012836
VAR_012836 disease not phenotype-associated
VAR_012838 commonName VAR_012838
VAR_012838 disease phenotype-associated
VAR_012838 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270]
VAR_012839 commonName VAR_012839
VAR_012839 disease phenotype-associated
VAR_012839 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270]
VAR_012840 commonName VAR_012840
VAR_012840 disease not phenotype-associated
VAR_012841 commonName VAR_012841
VAR_012841 disease phenotype-associated
VAR_012841 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270]
VAR_012842 commonName VAR_012842
VAR_012842 disease phenotype-associated
VAR_012842 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270]
VAR_012844 commonName VAR_012844
VAR_012844 disease not phenotype-associated
VAR_012846 commonName VAR_012846
VAR_012846 disease not phenotype-associated
VAR_012847 commonName VAR_012847
VAR_012847 disease not phenotype-associated
VAR_012848 commonName VAR_012848
VAR_012848 disease not phenotype-associated
VAR_012849 commonName VAR_012849
VAR_012849 disease not phenotype-associated
VAR_012850 commonName VAR_012850
VAR_012850 disease not phenotype-associated
VAR_012851 commonName VAR_012851
VAR_012851 disease not phenotype-associated
VAR_012852 commonName VAR_012852
VAR_012852 disease not phenotype-associated
VAR_012853 commonName VAR_012853
VAR_012853 disease not phenotype-associated
VAR_012855 commonName VAR_012855
VAR_012855 disease phenotype-associated
VAR_012855 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_012856 commonName VAR_012856
VAR_012856 disease phenotype-associated
VAR_012856 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_012857 commonName VAR_012857
VAR_012857 disease phenotype-associated
VAR_012857 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_012858 commonName VAR_012858
VAR_012858 disease phenotype-associated
VAR_012858 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_012859 commonName VAR_012859
VAR_012859 disease phenotype-associated
VAR_012859 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_012860 commonName VAR_012860
VAR_012860 disease phenotype-associated
VAR_012860 phenoCommon Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]
VAR_012861 commonName VAR_012861
VAR_012861 disease phenotype-associated
VAR_012861 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_012862 commonName VAR_012862
VAR_012862 disease phenotype-associated
VAR_012862 phenoCommon Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]
VAR_012863 commonName VAR_012863
VAR_012863 disease not phenotype-associated
VAR_012864 commonName VAR_012864
VAR_012864 disease not phenotype-associated
VAR_012865 commonName VAR_012865
VAR_012865 disease not phenotype-associated
VAR_012871 commonName VAR_012871
VAR_012871 disease phenotype-associated
VAR_012871 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012872 commonName VAR_012872
VAR_012872 disease phenotype-associated
VAR_012872 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012873 commonName VAR_012873
VAR_012873 disease phenotype-associated
VAR_012873 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012874 commonName VAR_012874
VAR_012874 disease phenotype-associated
VAR_012874 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012876 commonName VAR_012876
VAR_012876 disease phenotype-associated
VAR_012876 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012877 commonName VAR_012877
VAR_012877 disease phenotype-associated
VAR_012877 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012878 commonName VAR_012878
VAR_012878 disease phenotype-associated
VAR_012878 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012879 commonName VAR_012879
VAR_012879 disease phenotype-associated
VAR_012879 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012880 commonName VAR_012880
VAR_012880 disease phenotype-associated
VAR_012880 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012881 commonName VAR_012881
VAR_012881 disease not phenotype-associated
VAR_012882 commonName VAR_012882
VAR_012882 disease phenotype-associated
VAR_012882 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012883 commonName VAR_012883
VAR_012883 disease phenotype-associated
VAR_012883 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012884 commonName VAR_012884
VAR_012884 disease phenotype-associated
VAR_012884 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012885 commonName VAR_012885
VAR_012885 disease phenotype-associated
VAR_012885 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012886 commonName VAR_012886
VAR_012886 disease phenotype-associated
VAR_012886 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012887 commonName VAR_012887
VAR_012887 disease phenotype-associated
VAR_012887 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012888 commonName VAR_012888
VAR_012888 disease phenotype-associated
VAR_012888 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012889 commonName VAR_012889
VAR_012889 disease not phenotype-associated
VAR_012890 commonName VAR_012890
VAR_012890 disease phenotype-associated
VAR_012890 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012891 commonName VAR_012891
VAR_012891 disease phenotype-associated
VAR_012891 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012892 commonName VAR_012892
VAR_012892 disease phenotype-associated
VAR_012892 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012893 commonName VAR_012893
VAR_012893 disease phenotype-associated
VAR_012893 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012894 commonName VAR_012894
VAR_012894 disease phenotype-associated
VAR_012894 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012895 commonName VAR_012895
VAR_012895 disease phenotype-associated
VAR_012895 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012896 commonName VAR_012896
VAR_012896 disease phenotype-associated
VAR_012896 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012897 commonName VAR_012897
VAR_012897 disease not phenotype-associated
VAR_012898 commonName VAR_012898
VAR_012898 disease not phenotype-associated
VAR_012899 commonName VAR_012899
VAR_012899 disease phenotype-associated
VAR_012899 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012900 commonName VAR_012900
VAR_012900 disease phenotype-associated
VAR_012900 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_012902 commonName VAR_012902
VAR_012903 commonName VAR_012903
VAR_012903 disease phenotype-associated
VAR_012903 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012904 commonName VAR_012904
VAR_012905 commonName VAR_012905
VAR_012905 disease phenotype-associated
VAR_012905 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012906 commonName VAR_012906
VAR_012906 disease phenotype-associated
VAR_012906 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012907 commonName VAR_012907
VAR_012907 disease phenotype-associated
VAR_012907 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012908 commonName VAR_012908
VAR_012908 disease phenotype-associated
VAR_012908 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012909 commonName VAR_012909
VAR_012909 disease phenotype-associated
VAR_012909 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012910 commonName VAR_012910
VAR_012910 disease not phenotype-associated
VAR_012911 commonName VAR_012911
VAR_012911 disease phenotype-associated
VAR_012911 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012912 commonName VAR_012912
VAR_012914 commonName VAR_012914
VAR_012914 disease not phenotype-associated
VAR_012915 commonName VAR_012915
VAR_012916 commonName VAR_012916
VAR_012916 disease phenotype-associated
VAR_012916 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012917 commonName VAR_012917
VAR_012918 commonName VAR_012918
VAR_012918 disease phenotype-associated
VAR_012918 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012919 commonName VAR_012919
VAR_012919 disease not phenotype-associated
VAR_012920 commonName VAR_012920
VAR_012920 disease phenotype-associated
VAR_012920 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012921 commonName VAR_012921
VAR_012921 disease phenotype-associated
VAR_012921 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012922 commonName VAR_012922
VAR_012922 disease phenotype-associated
VAR_012922 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012923 commonName VAR_012923
VAR_012923 disease phenotype-associated
VAR_012923 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012924 commonName VAR_012924
VAR_012924 disease phenotype-associated
VAR_012924 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012925 commonName VAR_012925
VAR_012926 commonName VAR_012926
VAR_012927 commonName VAR_012927
VAR_012927 disease phenotype-associated
VAR_012927 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012928 commonName VAR_012928
VAR_012928 disease phenotype-associated
VAR_012928 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012929 commonName VAR_012929
VAR_012929 disease phenotype-associated
VAR_012929 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_012930 commonName VAR_012930
VAR_012931 commonName VAR_012931
VAR_012936 commonName VAR_012936
VAR_012936 disease phenotype-associated
VAR_012936 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_012937 comment Glioma
VAR_012937 commonName VAR_012937
VAR_012938 commonName VAR_012938
VAR_012939 commonName VAR_012939
VAR_012940 commonName VAR_012940
VAR_012941 commonName VAR_012941
VAR_012942 commonName VAR_012942
VAR_012943 commonName VAR_012943
VAR_012944 commonName VAR_012944
VAR_012944 disease phenotype-associated
VAR_012944 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_012945 commonName VAR_012945
VAR_012945 disease phenotype-associated
VAR_012945 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_012946 commonName VAR_012946
VAR_012946 disease phenotype-associated
VAR_012946 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012947 commonName VAR_012947
VAR_012947 disease phenotype-associated
VAR_012947 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012948 commonName VAR_012948
VAR_012948 disease phenotype-associated
VAR_012948 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012949 commonName VAR_012949
VAR_012949 disease phenotype-associated
VAR_012949 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012950 commonName VAR_012950
VAR_012950 disease phenotype-associated
VAR_012950 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012951 commonName VAR_012951
VAR_012951 disease phenotype-associated
VAR_012951 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012952 commonName VAR_012952
VAR_012952 disease phenotype-associated
VAR_012952 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012953 commonName VAR_012953
VAR_012953 disease phenotype-associated
VAR_012953 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012954 commonName VAR_012954
VAR_012954 disease phenotype-associated
VAR_012954 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]
VAR_012955 commonName VAR_012955
VAR_012955 disease not phenotype-associated
VAR_012956 commonName VAR_012956
VAR_012956 disease not phenotype-associated
VAR_012957 commonName VAR_012957
VAR_012958 commonName VAR_012958
VAR_012959 commonName VAR_012959
VAR_012960 commonName VAR_012960
VAR_012961 commonName VAR_012961
VAR_012961 disease not phenotype-associated
VAR_012962 commonName VAR_012962
VAR_012963 commonName VAR_012963
VAR_012964 comment Colorectal/endometrial cancer
VAR_012964 commonName VAR_012964
VAR_012965 commonName VAR_012965
VAR_012967 commonName VAR_012967
VAR_012967 disease not phenotype-associated
VAR_012968 commonName VAR_012968
VAR_012968 disease not phenotype-associated
VAR_012969 commonName VAR_012969
VAR_012969 disease not phenotype-associated
VAR_012970 commonName VAR_012970
VAR_012970 disease not phenotype-associated
VAR_012971 commonName VAR_012971
VAR_012971 disease not phenotype-associated
VAR_012975 comment Colorectal carcinoma
VAR_012975 commonName VAR_012975
VAR_012976 comment Colorectal carcinoma from a patient with MMRCS
VAR_012976 commonName VAR_012976
VAR_012977 comment Sporadic cancers
VAR_012977 commonName VAR_012977
VAR_012978 commonName VAR_012978
VAR_012978 disease not phenotype-associated
VAR_012979 commonName VAR_012979
VAR_012979 disease not phenotype-associated
VAR_012982 commonName VAR_012982
VAR_012982 disease not phenotype-associated
VAR_012983 commonName VAR_012983
VAR_012983 disease not phenotype-associated
VAR_012984 commonName VAR_012984
VAR_012984 disease not phenotype-associated
VAR_012985 commonName VAR_012985
VAR_012985 disease not phenotype-associated
VAR_012986 commonName VAR_012986
VAR_012986 disease not phenotype-associated
VAR_012987 commonName VAR_012987
VAR_012987 disease phenotype-associated
VAR_012987 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_012988 commonName VAR_012988
VAR_012988 disease not phenotype-associated
VAR_012989 commonName VAR_012989
VAR_012989 disease not phenotype-associated
VAR_012990 commonName VAR_012990
VAR_012990 disease not phenotype-associated
VAR_012991 commonName VAR_012991
VAR_012991 disease not phenotype-associated
VAR_012993 commonName VAR_012993
VAR_012993 disease not phenotype-associated
VAR_012995 commonName VAR_012995
VAR_012995 disease not phenotype-associated
VAR_012996 commonName VAR_012996
VAR_012996 disease not phenotype-associated
VAR_012997 commonName VAR_012997
VAR_012997 disease phenotype-associated
VAR_012997 phenoCommon Atransferrinemia (ATRAF) [MIM:209300]
VAR_013000 commonName VAR_013000
VAR_013000 disease not phenotype-associated
VAR_013002 commonName VAR_013002
VAR_013002 disease not phenotype-associated
VAR_013003 commonName VAR_013003
VAR_013003 disease not phenotype-associated
VAR_013005 commonName VAR_013005
VAR_013005 disease not phenotype-associated
VAR_013006 commonName VAR_013006
VAR_013006 disease not phenotype-associated
VAR_013007 commonName VAR_013007
VAR_013007 disease not phenotype-associated
VAR_013008 commonName VAR_013008
VAR_013008 disease not phenotype-associated
VAR_013009 commonName VAR_013009
VAR_013009 disease phenotype-associated
VAR_013009 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_013010 commonName VAR_013010
VAR_013010 disease phenotype-associated
VAR_013010 phenoCommon Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
VAR_013011 commonName VAR_013011
VAR_013011 disease phenotype-associated
VAR_013011 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
VAR_013012 commonName VAR_013012
VAR_013013 commonName VAR_013013
VAR_013013 disease phenotype-associated
VAR_013013 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
VAR_013014 commonName VAR_013014
VAR_013015 commonName VAR_013015
VAR_013016 commonName VAR_013016
VAR_013017 commonName VAR_013017
VAR_013020 commonName VAR_013020
VAR_013020 disease not phenotype-associated
VAR_013027 commonName VAR_013027
VAR_013027 disease not phenotype-associated
VAR_013029 commonName VAR_013029
VAR_013029 disease phenotype-associated
VAR_013029 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013030 commonName VAR_013030
VAR_013030 disease not phenotype-associated
VAR_013031 commonName VAR_013031
VAR_013031 disease phenotype-associated
VAR_013031 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013033 commonName VAR_013033
VAR_013033 disease phenotype-associated
VAR_013033 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013035 commonName VAR_013035
VAR_013035 disease phenotype-associated
VAR_013035 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013036 commonName VAR_013036
VAR_013036 disease phenotype-associated
VAR_013036 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013037 commonName VAR_013037
VAR_013037 disease phenotype-associated
VAR_013037 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013038 commonName VAR_013038
VAR_013038 disease phenotype-associated
VAR_013038 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013039 commonName VAR_013039
VAR_013039 disease phenotype-associated
VAR_013039 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013040 commonName VAR_013040
VAR_013040 disease phenotype-associated
VAR_013040 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013041 commonName VAR_013041
VAR_013042 commonName VAR_013042
VAR_013042 disease not phenotype-associated
VAR_013043 commonName VAR_013043
VAR_013043 disease phenotype-associated
VAR_013043 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013044 commonName VAR_013044
VAR_013044 disease phenotype-associated
VAR_013044 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013045 commonName VAR_013045
VAR_013045 disease phenotype-associated
VAR_013045 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013046 commonName VAR_013046
VAR_013046 disease phenotype-associated
VAR_013046 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013047 commonName VAR_013047
VAR_013047 disease phenotype-associated
VAR_013047 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013048 commonName VAR_013048
VAR_013048 disease phenotype-associated
VAR_013048 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013049 commonName VAR_013049
VAR_013049 disease phenotype-associated
VAR_013049 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013050 commonName VAR_013050
VAR_013050 disease phenotype-associated
VAR_013050 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013051 commonName VAR_013051
VAR_013051 disease phenotype-associated
VAR_013051 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013052 commonName VAR_013052
VAR_013052 disease phenotype-associated
VAR_013052 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013053 commonName VAR_013053
VAR_013053 disease phenotype-associated
VAR_013053 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013054 commonName VAR_013054
VAR_013054 disease not phenotype-associated
VAR_013055 commonName VAR_013055
VAR_013055 disease phenotype-associated
VAR_013055 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_013056 commonName VAR_013056
VAR_013056 disease not phenotype-associated
VAR_013057 commonName VAR_013057
VAR_013057 disease not phenotype-associated
VAR_013058 commonName VAR_013058
VAR_013058 disease not phenotype-associated
VAR_013059 commonName VAR_013059
VAR_013059 disease not phenotype-associated
VAR_013060 commonName VAR_013060
VAR_013060 disease not phenotype-associated
VAR_013061 commonName VAR_013061
VAR_013061 disease not phenotype-associated
VAR_013062 commonName VAR_013062
VAR_013062 disease not phenotype-associated
VAR_013063 commonName VAR_013063
VAR_013063 disease not phenotype-associated
VAR_013066 commonName VAR_013066
VAR_013066 disease not phenotype-associated
VAR_013067 commonName VAR_013067
VAR_013067 disease not phenotype-associated
VAR_013068 commonName VAR_013068
VAR_013068 disease not phenotype-associated
VAR_013069 commonName VAR_013069
VAR_013069 disease not phenotype-associated
VAR_013070 commonName VAR_013070
VAR_013070 disease not phenotype-associated
VAR_013071 commonName VAR_013071
VAR_013071 disease not phenotype-associated
VAR_013072 commonName VAR_013072
VAR_013072 disease not phenotype-associated
VAR_013073 commonName VAR_013073
VAR_013073 disease not phenotype-associated
VAR_013074 commonName VAR_013074
VAR_013074 disease not phenotype-associated
VAR_013075 commonName VAR_013075
VAR_013075 disease not phenotype-associated
VAR_013076 commonName VAR_013076
VAR_013076 disease not phenotype-associated
VAR_013077 commonName VAR_013077
VAR_013077 disease not phenotype-associated
VAR_013078 commonName VAR_013078
VAR_013078 disease not phenotype-associated
VAR_013079 commonName VAR_013079
VAR_013079 disease not phenotype-associated
VAR_013080 commonName VAR_013080
VAR_013080 disease not phenotype-associated
VAR_013081 commonName VAR_013081
VAR_013081 disease not phenotype-associated
VAR_013082 commonName VAR_013082
VAR_013082 disease not phenotype-associated
VAR_013083 commonName VAR_013083
VAR_013083 disease not phenotype-associated
VAR_013085 commonName VAR_013085
VAR_013085 disease not phenotype-associated
VAR_013086 commonName VAR_013086
VAR_013086 disease not phenotype-associated
VAR_013087 commonName VAR_013087
VAR_013087 disease not phenotype-associated
VAR_013088 commonName VAR_013088
VAR_013088 disease not phenotype-associated
VAR_013089 commonName VAR_013089
VAR_013089 disease not phenotype-associated
VAR_013090 commonName VAR_013090
VAR_013090 disease not phenotype-associated
VAR_013091 commonName VAR_013091
VAR_013091 disease not phenotype-associated
VAR_013092 commonName VAR_013092
VAR_013092 disease not phenotype-associated
VAR_013093 commonName VAR_013093
VAR_013093 disease not phenotype-associated
VAR_013094 commonName VAR_013094
VAR_013094 disease not phenotype-associated
VAR_013095 commonName VAR_013095
VAR_013095 disease not phenotype-associated
VAR_013096 commonName VAR_013096
VAR_013096 disease not phenotype-associated
VAR_013097 commonName VAR_013097
VAR_013097 disease not phenotype-associated
VAR_013098 commonName VAR_013098
VAR_013098 disease not phenotype-associated
VAR_013101 commonName VAR_013101
VAR_013101 disease not phenotype-associated
VAR_013102 commonName VAR_013102
VAR_013102 disease not phenotype-associated
VAR_013103 commonName VAR_013103
VAR_013103 disease phenotype-associated
VAR_013103 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670]
VAR_013104 commonName VAR_013104
VAR_013104 disease not phenotype-associated
VAR_013105 commonName VAR_013105
VAR_013105 disease phenotype-associated
VAR_013105 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013106 commonName VAR_013106
VAR_013106 disease phenotype-associated
VAR_013106 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013108 commonName VAR_013108
VAR_013108 disease phenotype-associated
VAR_013108 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013109 commonName VAR_013109
VAR_013109 disease phenotype-associated
VAR_013109 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013110 commonName VAR_013110
VAR_013110 disease phenotype-associated
VAR_013110 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013111 commonName VAR_013111
VAR_013111 disease phenotype-associated
VAR_013111 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013112 commonName VAR_013112
VAR_013112 disease phenotype-associated
VAR_013112 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013113 commonName VAR_013113
VAR_013113 disease phenotype-associated
VAR_013113 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013114 commonName VAR_013114
VAR_013114 disease not phenotype-associated
VAR_013115 commonName VAR_013115
VAR_013115 disease not phenotype-associated
VAR_013116 commonName VAR_013116
VAR_013116 disease not phenotype-associated
VAR_013117 commonName VAR_013117
VAR_013117 disease not phenotype-associated
VAR_013118 commonName VAR_013118
VAR_013118 disease not phenotype-associated
VAR_013121 commonName VAR_013121
VAR_013121 disease not phenotype-associated
VAR_013122 commonName VAR_013122
VAR_013122 disease not phenotype-associated
VAR_013123 commonName VAR_013123
VAR_013123 disease not phenotype-associated
VAR_013124 commonName VAR_013124
VAR_013124 disease not phenotype-associated
VAR_013125 commonName VAR_013125
VAR_013125 disease not phenotype-associated
VAR_013126 commonName VAR_013126
VAR_013126 disease phenotype-associated
VAR_013126 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_013127 commonName VAR_013127
VAR_013127 disease phenotype-associated
VAR_013127 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_013128 commonName VAR_013128
VAR_013128 disease not phenotype-associated
VAR_013130 commonName VAR_013130
VAR_013130 disease phenotype-associated
VAR_013130 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013131 commonName VAR_013131
VAR_013131 disease not phenotype-associated
VAR_013132 commonName VAR_013132
VAR_013132 disease phenotype-associated
VAR_013132 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013133 commonName VAR_013133
VAR_013133 disease phenotype-associated
VAR_013133 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013134 commonName VAR_013134
VAR_013134 disease phenotype-associated
VAR_013134 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_013135 commonName VAR_013135
VAR_013135 disease phenotype-associated
VAR_013135 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196]
VAR_013137 commonName VAR_013137
VAR_013137 disease not phenotype-associated
VAR_013138 commonName VAR_013138
VAR_013138 disease phenotype-associated
VAR_013138 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_013139 commonName VAR_013139
VAR_013139 disease phenotype-associated
VAR_013139 phenoCommon Properdin deficiency (PFD) [MIM:312060]
VAR_013140 commonName VAR_013140
VAR_013140 disease not phenotype-associated
VAR_013141 comment A Wilms' tumor
VAR_013141 commonName VAR_013141
VAR_013142 comment A breast tumor
VAR_013142 commonName VAR_013142
VAR_013143 comment A prostate tumor
VAR_013143 commonName VAR_013143
VAR_013146 commonName VAR_013146
VAR_013146 disease phenotype-associated
VAR_013146 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013147 commonName VAR_013147
VAR_013147 disease phenotype-associated
VAR_013147 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_013148 commonName VAR_013148
VAR_013148 disease not phenotype-associated
VAR_013149 commonName VAR_013149
VAR_013149 disease not phenotype-associated
VAR_013150 commonName VAR_013150
VAR_013157 commonName VAR_013157
VAR_013157 disease not phenotype-associated
VAR_013160 commonName VAR_013160
VAR_013160 disease not phenotype-associated
VAR_013161 commonName VAR_013161
VAR_013161 disease phenotype-associated
VAR_013161 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_013162 commonName VAR_013162
VAR_013162 disease phenotype-associated
VAR_013162 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013163 commonName VAR_013163
VAR_013163 disease phenotype-associated
VAR_013163 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013164 commonName VAR_013164
VAR_013164 disease phenotype-associated
VAR_013164 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013165 commonName VAR_013165
VAR_013165 disease not phenotype-associated
VAR_013166 commonName VAR_013166
VAR_013166 disease phenotype-associated
VAR_013166 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013167 commonName VAR_013167
VAR_013167 disease phenotype-associated
VAR_013167 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013168 commonName VAR_013168
VAR_013168 disease phenotype-associated
VAR_013168 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013169 commonName VAR_013169
VAR_013169 disease phenotype-associated
VAR_013169 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_013170 commonName VAR_013170
VAR_013170 disease phenotype-associated
VAR_013170 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
VAR_013171 commonName VAR_013171
VAR_013171 disease not phenotype-associated
VAR_013174 commonName VAR_013174
VAR_013174 disease phenotype-associated
VAR_013174 phenoCommon Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003]
VAR_013175 commonName VAR_013175
VAR_013175 disease not phenotype-associated
VAR_013176 commonName VAR_013176
VAR_013176 disease not phenotype-associated
VAR_013179 commonName VAR_013179
VAR_013179 disease not phenotype-associated
VAR_013181 commonName VAR_013181
VAR_013181 disease phenotype-associated
VAR_013181 phenoCommon Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]
VAR_013182 commonName VAR_013182
VAR_013182 disease phenotype-associated
VAR_013182 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013183 commonName VAR_013183
VAR_013183 disease phenotype-associated
VAR_013183 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013184 commonName VAR_013184
VAR_013184 disease phenotype-associated
VAR_013184 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013185 commonName VAR_013185
VAR_013185 disease phenotype-associated
VAR_013185 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013186 commonName VAR_013186
VAR_013186 disease phenotype-associated
VAR_013186 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013187 commonName VAR_013187
VAR_013187 disease phenotype-associated
VAR_013187 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013188 commonName VAR_013188
VAR_013188 disease phenotype-associated
VAR_013188 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013189 commonName VAR_013189
VAR_013189 disease phenotype-associated
VAR_013189 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013190 commonName VAR_013190
VAR_013190 disease phenotype-associated
VAR_013190 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013191 commonName VAR_013191
VAR_013191 disease phenotype-associated
VAR_013191 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013192 commonName VAR_013192
VAR_013192 disease phenotype-associated
VAR_013192 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013193 commonName VAR_013193
VAR_013193 disease phenotype-associated
VAR_013193 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013194 commonName VAR_013194
VAR_013194 disease phenotype-associated
VAR_013194 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013195 commonName VAR_013195
VAR_013195 disease phenotype-associated
VAR_013195 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013196 commonName VAR_013196
VAR_013196 disease phenotype-associated
VAR_013196 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013197 commonName VAR_013197
VAR_013197 disease phenotype-associated
VAR_013197 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013198 commonName VAR_013198
VAR_013198 disease phenotype-associated
VAR_013198 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013199 commonName VAR_013199
VAR_013199 disease phenotype-associated
VAR_013199 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013200 commonName VAR_013200
VAR_013200 disease phenotype-associated
VAR_013200 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_013201 commonName VAR_013201
VAR_013201 disease phenotype-associated
VAR_013201 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013202 commonName VAR_013202
VAR_013202 disease phenotype-associated
VAR_013202 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013203 commonName VAR_013203
VAR_013203 disease phenotype-associated
VAR_013203 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013204 commonName VAR_013204
VAR_013204 disease phenotype-associated
VAR_013204 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013205 commonName VAR_013205
VAR_013205 disease phenotype-associated
VAR_013205 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013206 commonName VAR_013206
VAR_013206 disease phenotype-associated
VAR_013206 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013207 commonName VAR_013207
VAR_013207 disease phenotype-associated
VAR_013207 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_013208 comment MALT lymphoma
VAR_013208 commonName VAR_013208
VAR_013209 comment MALT lymphoma
VAR_013209 commonName VAR_013209
VAR_013210 comment MALT lymphoma
VAR_013210 commonName VAR_013210
VAR_013211 commonName VAR_013211
VAR_013212 commonName VAR_013212
VAR_013213 comment MALT lymphoma
VAR_013213 commonName VAR_013213
VAR_013214 comment Germ cell tumor
VAR_013214 commonName VAR_013214
VAR_013215 commonName VAR_013215
VAR_013216 comment MALT lymphoma
VAR_013216 commonName VAR_013216
VAR_013217 commonName VAR_013217
VAR_013218 comment MALT lymphoma
VAR_013218 commonName VAR_013218
VAR_013219 comment MALT lymphoma
VAR_013219 commonName VAR_013219
VAR_013220 commonName VAR_013220
VAR_013221 comment MALT lymphoma
VAR_013221 commonName VAR_013221
VAR_013222 comment MALT lymphoma
VAR_013222 commonName VAR_013222
VAR_013224 comment MALT lymphoma
VAR_013224 commonName VAR_013224
VAR_013225 comment Germ cell tumor
VAR_013225 commonName VAR_013225
VAR_013226 comment MALT lymphoma
VAR_013226 commonName VAR_013226
VAR_013227 commonName VAR_013227
VAR_013227 disease phenotype-associated
VAR_013227 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_013227 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_013228 commonName VAR_013228
VAR_013228 disease phenotype-associated
VAR_013228 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_013229 commonName VAR_013229
VAR_013229 disease phenotype-associated
VAR_013229 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_013230 commonName VAR_013230
VAR_013230 disease phenotype-associated
VAR_013230 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_013231 commonName VAR_013231
VAR_013231 disease not phenotype-associated
VAR_013232 commonName VAR_013232
VAR_013232 disease not phenotype-associated
VAR_013233 commonName VAR_013233
VAR_013233 disease not phenotype-associated
VAR_013234 commonName VAR_013234
VAR_013234 disease not phenotype-associated
VAR_013235 commonName VAR_013235
VAR_013235 disease phenotype-associated
VAR_013235 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050]
VAR_013236 commonName VAR_013236
VAR_013236 disease phenotype-associated
VAR_013236 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050]
VAR_013237 commonName VAR_013237
VAR_013237 disease not phenotype-associated
VAR_013238 commonName VAR_013238
VAR_013238 disease phenotype-associated
VAR_013238 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]
VAR_013239 commonName VAR_013239
VAR_013239 disease not phenotype-associated
VAR_013241 commonName VAR_013241
VAR_013241 disease not phenotype-associated
VAR_013242 commonName VAR_013242
VAR_013242 disease not phenotype-associated
VAR_013244 commonName VAR_013244
VAR_013244 disease not phenotype-associated
VAR_013245 commonName VAR_013245
VAR_013245 disease not phenotype-associated
VAR_013246 commonName VAR_013246
VAR_013246 disease not phenotype-associated
VAR_013247 commonName VAR_013247
VAR_013247 disease not phenotype-associated
VAR_013248 commonName VAR_013248
VAR_013248 disease not phenotype-associated
VAR_013249 commonName VAR_013249
VAR_013249 disease not phenotype-associated
VAR_013250 commonName VAR_013250
VAR_013250 disease not phenotype-associated
VAR_013251 commonName VAR_013251
VAR_013251 disease phenotype-associated
VAR_013251 phenoCommon Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:614072]
VAR_013252 commonName VAR_013252
VAR_013252 disease not phenotype-associated
VAR_013253 commonName VAR_013253
VAR_013253 disease not phenotype-associated
VAR_013255 commonName VAR_013255
VAR_013255 disease phenotype-associated
VAR_013255 phenoCommon Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]
VAR_013256 commonName VAR_013256
VAR_013256 disease not phenotype-associated
VAR_013257 commonName VAR_013257
VAR_013257 disease phenotype-associated
VAR_013257 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013258 commonName VAR_013258
VAR_013258 disease phenotype-associated
VAR_013258 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013259 commonName VAR_013259
VAR_013259 disease phenotype-associated
VAR_013259 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013260 commonName VAR_013260
VAR_013260 disease phenotype-associated
VAR_013260 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013261 commonName VAR_013261
VAR_013261 disease phenotype-associated
VAR_013261 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013262 commonName VAR_013262
VAR_013262 disease phenotype-associated
VAR_013262 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013263 commonName VAR_013263
VAR_013263 disease phenotype-associated
VAR_013263 phenoCommon Cherubism (CRBM) [MIM:118400]
VAR_013264 commonName VAR_013264
VAR_013264 disease phenotype-associated
VAR_013264 phenoCommon Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858]
VAR_013264 phenoCommon Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]
VAR_013273 commonName VAR_013273
VAR_013274 commonName VAR_013274
VAR_013274 disease phenotype-associated
VAR_013274 phenoCommon Adiponectin deficiency (ADPND) [MIM:612556]
VAR_013275 commonName VAR_013275
VAR_013275 disease not phenotype-associated
VAR_013276 commonName VAR_013276
VAR_013277 commonName VAR_013277
VAR_013277 disease not phenotype-associated
VAR_013278 commonName VAR_013278
VAR_013278 disease not phenotype-associated
VAR_013279 commonName VAR_013279
VAR_013280 commonName VAR_013280
VAR_013280 disease phenotype-associated
VAR_013280 phenoCommon Hypomagnesemia type 2 (HOMG2) [MIM:154020]
VAR_013281 commonName VAR_013281
VAR_013281 disease phenotype-associated
VAR_013281 phenoCommon Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751]
VAR_013283 commonName VAR_013283
VAR_013283 disease phenotype-associated
VAR_013283 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013284 commonName VAR_013284
VAR_013284 disease phenotype-associated
VAR_013284 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013285 commonName VAR_013285
VAR_013285 disease phenotype-associated
VAR_013285 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013286 commonName VAR_013286
VAR_013286 disease phenotype-associated
VAR_013286 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_013287 commonName VAR_013287
VAR_013287 disease not phenotype-associated
VAR_013288 commonName VAR_013288
VAR_013288 disease not phenotype-associated
VAR_013289 commonName VAR_013289
VAR_013289 disease not phenotype-associated
VAR_013290 commonName VAR_013290
VAR_013290 disease not phenotype-associated
VAR_013291 commonName VAR_013291
VAR_013291 disease not phenotype-associated
VAR_013292 commonName VAR_013292
VAR_013292 disease not phenotype-associated
VAR_013293 commonName VAR_013293
VAR_013293 disease not phenotype-associated
VAR_013294 commonName VAR_013294
VAR_013295 commonName VAR_013295
VAR_013295 disease not phenotype-associated
VAR_013296 commonName VAR_013296
VAR_013296 disease not phenotype-associated
VAR_013297 commonName VAR_013297
VAR_013297 disease not phenotype-associated
VAR_013298 commonName VAR_013298
VAR_013298 disease not phenotype-associated
VAR_013299 commonName VAR_013299
VAR_013299 disease not phenotype-associated
VAR_013300 commonName VAR_013300
VAR_013300 disease not phenotype-associated
VAR_013301 commonName VAR_013301
VAR_013302 commonName VAR_013302
VAR_013303 commonName VAR_013303
VAR_013304 commonName VAR_013304
VAR_013305 commonName VAR_013305
VAR_013305 disease not phenotype-associated
VAR_013306 commonName VAR_013306
VAR_013306 disease not phenotype-associated
VAR_013307 commonName VAR_013307
VAR_013308 commonName VAR_013308
VAR_013308 disease not phenotype-associated
VAR_013309 commonName VAR_013309
VAR_013309 disease not phenotype-associated
VAR_013311 commonName VAR_013311
VAR_013311 disease not phenotype-associated
VAR_013312 commonName VAR_013312
VAR_013312 disease not phenotype-associated
VAR_013313 commonName VAR_013313
VAR_013313 disease not phenotype-associated
VAR_013314 commonName VAR_013314
VAR_013314 disease not phenotype-associated
VAR_013315 commonName VAR_013315
VAR_013315 disease not phenotype-associated
VAR_013316 commonName VAR_013316
VAR_013316 disease not phenotype-associated
VAR_013317 commonName VAR_013317
VAR_013317 disease not phenotype-associated
VAR_013318 commonName VAR_013318
VAR_013318 disease not phenotype-associated
VAR_013319 commonName VAR_013319
VAR_013319 disease not phenotype-associated
VAR_013320 commonName VAR_013320
VAR_013320 disease not phenotype-associated
VAR_013321 commonName VAR_013321
VAR_013321 disease not phenotype-associated
VAR_013322 commonName VAR_013322
VAR_013322 disease not phenotype-associated
VAR_013323 commonName VAR_013323
VAR_013323 disease not phenotype-associated
VAR_013324 commonName VAR_013324
VAR_013324 disease not phenotype-associated
VAR_013325 commonName VAR_013325
VAR_013325 disease not phenotype-associated
VAR_013326 commonName VAR_013326
VAR_013326 disease not phenotype-associated
VAR_013327 commonName VAR_013327
VAR_013327 disease phenotype-associated
VAR_013327 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500]
VAR_013328 commonName VAR_013328
VAR_013328 disease phenotype-associated
VAR_013328 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500]
VAR_013330 commonName VAR_013330
VAR_013330 disease not phenotype-associated
VAR_013331 commonName VAR_013331
VAR_013331 disease not phenotype-associated
VAR_013332 commonName VAR_013332
VAR_013332 disease phenotype-associated
VAR_013332 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_013333 commonName VAR_013333
VAR_013333 disease not phenotype-associated
VAR_013334 commonName VAR_013334
VAR_013334 disease phenotype-associated
VAR_013334 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_013335 commonName VAR_013335
VAR_013335 disease phenotype-associated
VAR_013335 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_013340 commonName VAR_013340
VAR_013340 disease not phenotype-associated
VAR_013341 commonName VAR_013341
VAR_013341 disease phenotype-associated
VAR_013341 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013342 commonName VAR_013342
VAR_013342 disease phenotype-associated
VAR_013342 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013344 commonName VAR_013344
VAR_013344 disease phenotype-associated
VAR_013344 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013345 commonName VAR_013345
VAR_013345 disease phenotype-associated
VAR_013345 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013346 commonName VAR_013346
VAR_013346 disease phenotype-associated
VAR_013346 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013347 commonName VAR_013347
VAR_013347 disease phenotype-associated
VAR_013347 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013349 commonName VAR_013349
VAR_013349 disease phenotype-associated
VAR_013349 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013350 commonName VAR_013350
VAR_013350 disease phenotype-associated
VAR_013350 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013352 commonName VAR_013352
VAR_013352 disease phenotype-associated
VAR_013352 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013353 commonName VAR_013353
VAR_013353 disease phenotype-associated
VAR_013353 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013354 commonName VAR_013354
VAR_013354 disease phenotype-associated
VAR_013354 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013355 commonName VAR_013355
VAR_013355 disease phenotype-associated
VAR_013355 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013356 commonName VAR_013356
VAR_013356 disease phenotype-associated
VAR_013356 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013357 commonName VAR_013357
VAR_013357 disease phenotype-associated
VAR_013357 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013358 commonName VAR_013358
VAR_013358 disease phenotype-associated
VAR_013358 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013359 commonName VAR_013359
VAR_013359 disease phenotype-associated
VAR_013359 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013360 commonName VAR_013360
VAR_013360 disease phenotype-associated
VAR_013360 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_013361 commonName VAR_013361
VAR_013361 disease not phenotype-associated
VAR_013362 commonName VAR_013362
VAR_013362 disease not phenotype-associated
VAR_013364 commonName VAR_013364
VAR_013364 disease not phenotype-associated
VAR_013365 commonName VAR_013365
VAR_013365 disease not phenotype-associated
VAR_013366 commonName VAR_013366
VAR_013366 disease not phenotype-associated
VAR_013367 commonName VAR_013367
VAR_013367 disease not phenotype-associated
VAR_013368 commonName VAR_013368
VAR_013368 disease not phenotype-associated
VAR_013369 commonName VAR_013369
VAR_013369 disease not phenotype-associated
VAR_013370 commonName VAR_013370
VAR_013370 disease phenotype-associated
VAR_013370 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013371 commonName VAR_013371
VAR_013371 disease phenotype-associated
VAR_013371 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013372 commonName VAR_013372
VAR_013372 disease phenotype-associated
VAR_013372 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013373 commonName VAR_013373
VAR_013373 disease not phenotype-associated
VAR_013374 commonName VAR_013374
VAR_013374 disease phenotype-associated
VAR_013374 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013375 commonName VAR_013375
VAR_013375 disease phenotype-associated
VAR_013375 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013376 commonName VAR_013376
VAR_013376 disease not phenotype-associated
VAR_013377 commonName VAR_013377
VAR_013377 disease phenotype-associated
VAR_013377 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013378 commonName VAR_013378
VAR_013378 disease phenotype-associated
VAR_013378 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013379 commonName VAR_013379
VAR_013379 disease not phenotype-associated
VAR_013380 commonName VAR_013380
VAR_013380 disease phenotype-associated
VAR_013380 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013381 commonName VAR_013381
VAR_013381 disease phenotype-associated
VAR_013381 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013382 commonName VAR_013382
VAR_013382 disease phenotype-associated
VAR_013382 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013383 commonName VAR_013383
VAR_013383 disease not phenotype-associated
VAR_013384 commonName VAR_013384
VAR_013384 disease phenotype-associated
VAR_013384 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013385 commonName VAR_013385
VAR_013385 disease phenotype-associated
VAR_013385 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013386 commonName VAR_013386
VAR_013386 disease phenotype-associated
VAR_013386 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013387 commonName VAR_013387
VAR_013387 disease phenotype-associated
VAR_013387 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013388 commonName VAR_013388
VAR_013388 disease phenotype-associated
VAR_013388 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013389 commonName VAR_013389
VAR_013389 disease phenotype-associated
VAR_013389 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013390 commonName VAR_013390
VAR_013390 disease phenotype-associated
VAR_013390 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013391 commonName VAR_013391
VAR_013391 disease phenotype-associated
VAR_013391 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013392 commonName VAR_013392
VAR_013392 disease phenotype-associated
VAR_013392 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013393 commonName VAR_013393
VAR_013393 disease phenotype-associated
VAR_013393 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013394 commonName VAR_013394
VAR_013394 disease phenotype-associated
VAR_013394 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_013395 commonName VAR_013395
VAR_013395 disease not phenotype-associated
VAR_013396 commonName VAR_013396
VAR_013396 disease not phenotype-associated
VAR_013402 commonName VAR_013402
VAR_013402 disease phenotype-associated
VAR_013402 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_013403 commonName VAR_013403
VAR_013403 disease phenotype-associated
VAR_013403 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_013406 commonName VAR_013406
VAR_013406 disease not phenotype-associated
VAR_013407 commonName VAR_013407
VAR_013407 disease not phenotype-associated
VAR_013410 commonName VAR_013410
VAR_013410 disease phenotype-associated
VAR_013410 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013411 commonName VAR_013411
VAR_013411 disease phenotype-associated
VAR_013411 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013412 commonName VAR_013412
VAR_013412 disease phenotype-associated
VAR_013412 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013413 commonName VAR_013413
VAR_013413 disease phenotype-associated
VAR_013413 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013414 commonName VAR_013414
VAR_013414 disease phenotype-associated
VAR_013414 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013415 commonName VAR_013415
VAR_013415 disease phenotype-associated
VAR_013415 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_013416 comment Non-Hodgkin lymphoma
VAR_013416 commonName VAR_013416
VAR_013417 commonName VAR_013417
VAR_013417 disease phenotype-associated
VAR_013417 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013418 commonName VAR_013418
VAR_013418 disease phenotype-associated
VAR_013418 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013419 commonName VAR_013419
VAR_013419 disease phenotype-associated
VAR_013419 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013420 comment Non-Hodgkin lymphoma
VAR_013420 commonName VAR_013420
VAR_013421 comment Non-Hodgkin lymphoma
VAR_013421 commonName VAR_013421
VAR_013422 comment Non-Hodgkin lymphoma
VAR_013422 commonName VAR_013422
VAR_013423 commonName VAR_013423
VAR_013423 disease phenotype-associated
VAR_013423 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013424 commonName VAR_013424
VAR_013424 disease phenotype-associated
VAR_013424 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013425 commonName VAR_013425
VAR_013425 disease phenotype-associated
VAR_013425 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013426 commonName VAR_013426
VAR_013426 disease phenotype-associated
VAR_013426 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013427 commonName VAR_013427
VAR_013427 disease phenotype-associated
VAR_013427 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013428 commonName VAR_013428
VAR_013428 disease phenotype-associated
VAR_013428 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013429 commonName VAR_013429
VAR_013429 disease phenotype-associated
VAR_013429 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013430 commonName VAR_013430
VAR_013430 disease phenotype-associated
VAR_013430 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013431 commonName VAR_013431
VAR_013431 disease phenotype-associated
VAR_013431 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013432 comment Non-Hodgkin lymphoma
VAR_013432 commonName VAR_013432
VAR_013433 commonName VAR_013433
VAR_013433 disease phenotype-associated
VAR_013433 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013434 commonName VAR_013434
VAR_013434 disease phenotype-associated
VAR_013434 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013435 commonName VAR_013435
VAR_013435 disease phenotype-associated
VAR_013435 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013436 comment Non-Hodgkin lymphoma
VAR_013436 commonName VAR_013436
VAR_013437 comment Non-Hodgkin lymphoma
VAR_013437 commonName VAR_013437
VAR_013438 commonName VAR_013438
VAR_013438 disease phenotype-associated
VAR_013438 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_013439 commonName VAR_013439
VAR_013439 disease not phenotype-associated
VAR_013442 commonName VAR_013442
VAR_013442 disease not phenotype-associated
VAR_013443 commonName VAR_013443
VAR_013443 disease phenotype-associated
VAR_013443 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_013444 commonName VAR_013444
VAR_013444 disease phenotype-associated
VAR_013444 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_013445 commonName VAR_013445
VAR_013445 disease not phenotype-associated
VAR_013446 commonName VAR_013446
VAR_013446 disease not phenotype-associated
VAR_013447 commonName VAR_013447
VAR_013447 disease not phenotype-associated
VAR_013448 commonName VAR_013448
VAR_013448 disease phenotype-associated
VAR_013448 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_013449 commonName VAR_013449
VAR_013449 disease phenotype-associated
VAR_013449 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_013450 commonName VAR_013450
VAR_013450 disease phenotype-associated
VAR_013450 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_013450 phenoCommon Ectodermal dysplasia type 3 (ED3) [MIM:129490]
VAR_013451 commonName VAR_013451
VAR_013451 disease not phenotype-associated
VAR_013452 commonName VAR_013452
VAR_013452 disease not phenotype-associated
VAR_013453 commonName VAR_013453
VAR_013453 disease not phenotype-associated
VAR_013454 commonName VAR_013454
VAR_013454 disease not phenotype-associated
VAR_013455 commonName VAR_013455
VAR_013455 disease not phenotype-associated
VAR_013456 commonName VAR_013456
VAR_013456 disease not phenotype-associated
VAR_013457 commonName VAR_013457
VAR_013457 disease not phenotype-associated
VAR_013459 commonName VAR_013459
VAR_013459 disease not phenotype-associated
VAR_013460 commonName VAR_013460
VAR_013460 disease phenotype-associated
VAR_013460 phenoCommon Nemaline myopathy type 1 (NEM1) [MIM:609284]
VAR_013461 commonName VAR_013461
VAR_013461 disease phenotype-associated
VAR_013461 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
VAR_013463 comment Leukemia
VAR_013463 commonName VAR_013463
VAR_013465 comment Leukemia
VAR_013465 commonName VAR_013465
VAR_013466 comment Leukemia
VAR_013466 commonName VAR_013466
VAR_013467 commonName VAR_013467
VAR_013467 disease not phenotype-associated
VAR_013468 commonName VAR_013468
VAR_013468 disease phenotype-associated
VAR_013468 phenoCommon Nemaline myopathy type 4 (NEM4) [MIM:609285]
VAR_013469 commonName VAR_013469
VAR_013469 disease phenotype-associated
VAR_013469 phenoCommon Nemaline myopathy type 4 (NEM4) [MIM:609285]
VAR_013470 commonName VAR_013470
VAR_013470 disease phenotype-associated
VAR_013470 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_013471 commonName VAR_013471
VAR_013471 disease phenotype-associated
VAR_013471 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_013481 commonName VAR_013481
VAR_013481 disease not phenotype-associated
VAR_013482 commonName VAR_013482
VAR_013482 disease phenotype-associated
VAR_013482 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_013483 commonName VAR_013483
VAR_013483 disease not phenotype-associated
VAR_013484 commonName VAR_013484
VAR_013484 disease phenotype-associated
VAR_013484 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_013485 commonName VAR_013485
VAR_013485 disease phenotype-associated
VAR_013485 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_013486 commonName VAR_013486
VAR_013486 disease phenotype-associated
VAR_013486 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_013487 commonName VAR_013487
VAR_013487 disease phenotype-associated
VAR_013487 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_013488 commonName VAR_013488
VAR_013488 disease phenotype-associated
VAR_013488 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_013490 commonName VAR_013490
VAR_013491 commonName VAR_013491
VAR_013492 commonName VAR_013492
VAR_013492 disease not phenotype-associated
VAR_013493 commonName VAR_013493
VAR_013493 disease not phenotype-associated
VAR_013494 commonName VAR_013494
VAR_013497 commonName VAR_013497
VAR_013497 disease phenotype-associated
VAR_013497 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013498 commonName VAR_013498
VAR_013498 disease phenotype-associated
VAR_013498 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013499 commonName VAR_013499
VAR_013499 disease phenotype-associated
VAR_013499 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013500 commonName VAR_013500
VAR_013500 disease phenotype-associated
VAR_013500 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013501 commonName VAR_013501
VAR_013501 disease phenotype-associated
VAR_013501 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013502 commonName VAR_013502
VAR_013502 disease phenotype-associated
VAR_013502 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013503 commonName VAR_013503
VAR_013503 disease phenotype-associated
VAR_013503 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
VAR_013504 commonName VAR_013504
VAR_013504 disease not phenotype-associated
VAR_013505 commonName VAR_013505
VAR_013505 disease not phenotype-associated
VAR_013506 commonName VAR_013506
VAR_013506 disease not phenotype-associated
VAR_013507 commonName VAR_013507
VAR_013507 disease not phenotype-associated
VAR_013508 commonName VAR_013508
VAR_013508 disease not phenotype-associated
VAR_013509 commonName VAR_013509
VAR_013509 disease not phenotype-associated
VAR_013510 commonName VAR_013510
VAR_013510 disease not phenotype-associated
VAR_013512 commonName VAR_013512
VAR_013512 disease not phenotype-associated
VAR_013513 commonName VAR_013513
VAR_013513 disease not phenotype-associated
VAR_013515 commonName VAR_013515
VAR_013515 disease not phenotype-associated
VAR_013516 commonName VAR_013516
VAR_013516 disease not phenotype-associated
VAR_013517 commonName VAR_013517
VAR_013517 disease not phenotype-associated
VAR_013518 commonName VAR_013518
VAR_013518 disease phenotype-associated
VAR_013518 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013519 commonName VAR_013519
VAR_013519 disease phenotype-associated
VAR_013519 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013520 commonName VAR_013520
VAR_013520 disease phenotype-associated
VAR_013520 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013521 commonName VAR_013521
VAR_013521 disease phenotype-associated
VAR_013521 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013522 commonName VAR_013522
VAR_013522 disease phenotype-associated
VAR_013522 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013523 commonName VAR_013523
VAR_013523 disease phenotype-associated
VAR_013523 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013524 commonName VAR_013524
VAR_013524 disease phenotype-associated
VAR_013524 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013525 commonName VAR_013525
VAR_013525 disease phenotype-associated
VAR_013525 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013526 commonName VAR_013526
VAR_013526 disease phenotype-associated
VAR_013526 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013527 commonName VAR_013527
VAR_013527 disease phenotype-associated
VAR_013527 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013528 commonName VAR_013528
VAR_013528 disease phenotype-associated
VAR_013528 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013529 commonName VAR_013529
VAR_013529 disease phenotype-associated
VAR_013529 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013530 commonName VAR_013530
VAR_013530 disease phenotype-associated
VAR_013530 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013531 commonName VAR_013531
VAR_013531 disease phenotype-associated
VAR_013531 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013532 commonName VAR_013532
VAR_013532 disease phenotype-associated
VAR_013532 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013533 commonName VAR_013533
VAR_013533 disease phenotype-associated
VAR_013533 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013534 commonName VAR_013534
VAR_013534 disease phenotype-associated
VAR_013534 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013535 commonName VAR_013535
VAR_013535 disease phenotype-associated
VAR_013535 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013536 commonName VAR_013536
VAR_013536 disease phenotype-associated
VAR_013536 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013537 commonName VAR_013537
VAR_013537 disease phenotype-associated
VAR_013537 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013538 commonName VAR_013538
VAR_013538 disease phenotype-associated
VAR_013538 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013539 commonName VAR_013539
VAR_013539 disease phenotype-associated
VAR_013539 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013540 commonName VAR_013540
VAR_013540 disease phenotype-associated
VAR_013540 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_013541 commonName VAR_013541
VAR_013541 disease phenotype-associated
VAR_013541 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013542 commonName VAR_013542
VAR_013542 disease phenotype-associated
VAR_013542 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_013543 commonName VAR_013543
VAR_013543 disease phenotype-associated
VAR_013543 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013544 commonName VAR_013544
VAR_013544 disease phenotype-associated
VAR_013544 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013545 commonName VAR_013545
VAR_013545 disease phenotype-associated
VAR_013545 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013546 commonName VAR_013546
VAR_013546 disease phenotype-associated
VAR_013546 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013547 commonName VAR_013547
VAR_013547 disease phenotype-associated
VAR_013547 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013548 commonName VAR_013548
VAR_013548 disease phenotype-associated
VAR_013548 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013548 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013549 commonName VAR_013549
VAR_013549 disease phenotype-associated
VAR_013549 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013550 commonName VAR_013550
VAR_013550 disease phenotype-associated
VAR_013550 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_013551 commonName VAR_013551
VAR_013551 disease phenotype-associated
VAR_013551 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_013551 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_013552 commonName VAR_013552
VAR_013552 disease phenotype-associated
VAR_013552 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_013553 commonName VAR_013553
VAR_013553 disease phenotype-associated
VAR_013553 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013554 commonName VAR_013554
VAR_013554 disease phenotype-associated
VAR_013554 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_013555 commonName VAR_013555
VAR_013555 disease phenotype-associated
VAR_013555 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_013555 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_013556 commonName VAR_013556
VAR_013556 disease phenotype-associated
VAR_013556 phenoCommon Chediak-Higashi syndrome (CHS) [MIM:214500]
VAR_013557 commonName VAR_013557
VAR_013557 disease phenotype-associated
VAR_013557 phenoCommon Chediak-Higashi syndrome (CHS) [MIM:214500]
VAR_013558 commonName VAR_013558
VAR_013558 disease phenotype-associated
VAR_013558 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_013559 commonName VAR_013559
VAR_013559 disease not phenotype-associated
VAR_013560 commonName VAR_013560
VAR_013560 disease not phenotype-associated
VAR_013561 commonName VAR_013561
VAR_013561 disease not phenotype-associated
VAR_013562 commonName VAR_013562
VAR_013562 disease not phenotype-associated
VAR_013563 commonName VAR_013563
VAR_013563 disease not phenotype-associated
VAR_013564 commonName VAR_013564
VAR_013564 disease not phenotype-associated
VAR_013565 commonName VAR_013565
VAR_013565 disease phenotype-associated
VAR_013565 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_013567 commonName VAR_013567
VAR_013567 disease not phenotype-associated
VAR_013568 commonName VAR_013568
VAR_013568 disease phenotype-associated
VAR_013568 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_013569 commonName VAR_013569
VAR_013569 disease phenotype-associated
VAR_013569 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_013570 commonName VAR_013570
VAR_013570 disease phenotype-associated
VAR_013570 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_013571 commonName VAR_013571
VAR_013571 disease phenotype-associated
VAR_013571 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
VAR_013572 commonName VAR_013572
VAR_013572 disease not phenotype-associated
VAR_013573 commonName VAR_013573
VAR_013573 disease not phenotype-associated
VAR_013574 commonName VAR_013574
VAR_013575 commonName VAR_013575
VAR_013576 comment A Burkitt lymphoma
VAR_013576 commonName VAR_013576
VAR_013577 commonName VAR_013577
VAR_013577 disease not phenotype-associated
VAR_013579 commonName VAR_013579
VAR_013579 disease phenotype-associated
VAR_013579 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_013580 commonName VAR_013580
VAR_013580 disease phenotype-associated
VAR_013580 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_013581 commonName VAR_013581
VAR_013581 disease phenotype-associated
VAR_013581 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_013582 commonName VAR_013582
VAR_013582 disease phenotype-associated
VAR_013582 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_013583 commonName VAR_013583
VAR_013583 disease phenotype-associated
VAR_013583 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_013584 commonName VAR_013584
VAR_013584 disease phenotype-associated
VAR_013584 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_013587 commonName VAR_013587
VAR_013587 disease phenotype-associated
VAR_013587 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_013588 commonName VAR_013588
VAR_013588 disease phenotype-associated
VAR_013588 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
VAR_013589 commonName VAR_013589
VAR_013589 disease phenotype-associated
VAR_013589 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_013590 commonName VAR_013590
VAR_013590 disease phenotype-associated
VAR_013590 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_013598 commonName VAR_013598
VAR_013598 disease phenotype-associated
VAR_013598 phenoCommon Prekallikrein deficiency (PKK deficiency) [MIM:612423]
VAR_013599 commonName VAR_013599
VAR_013599 disease not phenotype-associated
VAR_013600 commonName VAR_013600
VAR_013600 disease not phenotype-associated
VAR_013601 commonName VAR_013601
VAR_013601 disease not phenotype-associated
VAR_013602 commonName VAR_013602
VAR_013602 disease not phenotype-associated
VAR_013603 commonName VAR_013603
VAR_013603 disease not phenotype-associated
VAR_013604 commonName VAR_013604
VAR_013604 disease not phenotype-associated
VAR_013605 commonName VAR_013605
VAR_013605 disease not phenotype-associated
VAR_013606 commonName VAR_013606
VAR_013606 disease not phenotype-associated
VAR_013607 commonName VAR_013607
VAR_013607 disease not phenotype-associated
VAR_013608 commonName VAR_013608
VAR_013608 disease not phenotype-associated
VAR_013609 commonName VAR_013609
VAR_013609 disease not phenotype-associated
VAR_013610 commonName VAR_013610
VAR_013610 disease not phenotype-associated
VAR_013611 commonName VAR_013611
VAR_013612 commonName VAR_013612
VAR_013612 disease not phenotype-associated
VAR_013613 commonName VAR_013613
VAR_013614 commonName VAR_013614
VAR_013614 disease not phenotype-associated
VAR_013615 commonName VAR_013615
VAR_013615 disease not phenotype-associated
VAR_013616 commonName VAR_013616
VAR_013616 disease not phenotype-associated
VAR_013617 commonName VAR_013617
VAR_013617 disease not phenotype-associated
VAR_013618 commonName VAR_013618
VAR_013618 disease not phenotype-associated
VAR_013619 commonName VAR_013619
VAR_013619 disease phenotype-associated
VAR_013619 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_013619 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820]
VAR_013620 commonName VAR_013620
VAR_013621 commonName VAR_013621
VAR_013621 disease phenotype-associated
VAR_013621 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
VAR_013622 commonName VAR_013622
VAR_013622 disease not phenotype-associated
VAR_013623 commonName VAR_013623
VAR_013623 disease phenotype-associated
VAR_013623 phenoCommon Juvenile myelomonocytic leukemia (JMML) [MIM:607785]
VAR_013628 commonName VAR_013628
VAR_013628 disease phenotype-associated
VAR_013628 phenoCommon Immunodeficiency with hyper-IgM type 3 (HIGM3) [MIM:606843]
VAR_013629 commonName VAR_013629
VAR_013629 disease not phenotype-associated
VAR_013630 commonName VAR_013630
VAR_013630 disease phenotype-associated
VAR_013630 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
VAR_013631 commonName VAR_013631
VAR_013631 disease not phenotype-associated
VAR_013632 commonName VAR_013632
VAR_013632 disease not phenotype-associated
VAR_013633 commonName VAR_013633
VAR_013633 disease not phenotype-associated
VAR_013638 commonName VAR_013638
VAR_013638 disease not phenotype-associated
VAR_013639 commonName VAR_013639
VAR_013639 disease not phenotype-associated
VAR_013640 commonName VAR_013640
VAR_013640 disease phenotype-associated
VAR_013640 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_013641 commonName VAR_013641
VAR_013641 disease phenotype-associated
VAR_013641 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_013642 commonName VAR_013642
VAR_013642 disease phenotype-associated
VAR_013642 phenoCommon Juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]
VAR_013669 commonName VAR_013669
VAR_013669 disease phenotype-associated
VAR_013669 phenoCommon Episodic ataxia type 5 (EA5) [MIM:613855]
VAR_013670 commonName VAR_013670
VAR_013670 disease phenotype-associated
VAR_013670 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013671 commonName VAR_013671
VAR_013671 disease phenotype-associated
VAR_013671 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013672 commonName VAR_013672
VAR_013672 disease phenotype-associated
VAR_013672 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013673 commonName VAR_013673
VAR_013673 disease phenotype-associated
VAR_013673 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013674 commonName VAR_013674
VAR_013674 disease phenotype-associated
VAR_013674 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013675 commonName VAR_013675
VAR_013675 disease not phenotype-associated
VAR_013676 commonName VAR_013676
VAR_013676 disease phenotype-associated
VAR_013676 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013677 commonName VAR_013677
VAR_013677 disease phenotype-associated
VAR_013677 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013678 commonName VAR_013678
VAR_013678 disease phenotype-associated
VAR_013678 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013679 commonName VAR_013679
VAR_013679 disease phenotype-associated
VAR_013679 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013680 commonName VAR_013680
VAR_013680 disease phenotype-associated
VAR_013680 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013681 commonName VAR_013681
VAR_013681 disease phenotype-associated
VAR_013681 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013682 commonName VAR_013682
VAR_013682 disease phenotype-associated
VAR_013682 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013683 commonName VAR_013683
VAR_013683 disease phenotype-associated
VAR_013683 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_013684 commonName VAR_013684
VAR_013684 disease not phenotype-associated
VAR_013685 commonName VAR_013685
VAR_013685 disease not phenotype-associated
VAR_013686 commonName VAR_013686
VAR_013686 disease not phenotype-associated
VAR_013687 commonName VAR_013687
VAR_013687 disease not phenotype-associated
VAR_013688 commonName VAR_013688
VAR_013688 disease not phenotype-associated
VAR_013691 commonName VAR_013691
VAR_013691 disease phenotype-associated
VAR_013691 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_013692 commonName VAR_013692
VAR_013692 disease phenotype-associated
VAR_013692 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_013693 commonName VAR_013693
VAR_013693 disease not phenotype-associated
VAR_013694 commonName VAR_013694
VAR_013694 disease not phenotype-associated
VAR_013695 commonName VAR_013695
VAR_013695 disease not phenotype-associated
VAR_013696 commonName VAR_013696
VAR_013696 disease not phenotype-associated
VAR_013697 commonName VAR_013697
VAR_013697 disease not phenotype-associated
VAR_013698 commonName VAR_013698
VAR_013698 disease phenotype-associated
VAR_013698 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_013701 commonName VAR_013701
VAR_013701 disease not phenotype-associated
VAR_013702 commonName VAR_013702
VAR_013702 disease not phenotype-associated
VAR_013703 commonName VAR_013703
VAR_013703 disease not phenotype-associated
VAR_013704 commonName VAR_013704
VAR_013704 disease not phenotype-associated
VAR_013705 commonName VAR_013705
VAR_013705 disease not phenotype-associated
VAR_013706 commonName VAR_013706
VAR_013706 disease not phenotype-associated
VAR_013707 commonName VAR_013707
VAR_013707 disease not phenotype-associated
VAR_013708 commonName VAR_013708
VAR_013708 disease not phenotype-associated
VAR_013709 commonName VAR_013709
VAR_013709 disease not phenotype-associated
VAR_013710 commonName VAR_013710
VAR_013710 disease not phenotype-associated
VAR_013711 commonName VAR_013711
VAR_013711 disease not phenotype-associated
VAR_013712 commonName VAR_013712
VAR_013712 disease not phenotype-associated
VAR_013713 commonName VAR_013713
VAR_013713 disease phenotype-associated
VAR_013713 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013714 commonName VAR_013714
VAR_013714 disease phenotype-associated
VAR_013714 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013715 commonName VAR_013715
VAR_013715 disease phenotype-associated
VAR_013715 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013716 commonName VAR_013716
VAR_013716 disease phenotype-associated
VAR_013716 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013717 commonName VAR_013717
VAR_013717 disease phenotype-associated
VAR_013717 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013718 commonName VAR_013718
VAR_013718 disease phenotype-associated
VAR_013718 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013719 commonName VAR_013719
VAR_013719 disease phenotype-associated
VAR_013719 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013720 commonName VAR_013720
VAR_013720 disease phenotype-associated
VAR_013720 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013721 commonName VAR_013721
VAR_013721 disease phenotype-associated
VAR_013721 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013722 commonName VAR_013722
VAR_013722 disease not phenotype-associated
VAR_013723 commonName VAR_013723
VAR_013723 disease phenotype-associated
VAR_013723 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013724 commonName VAR_013724
VAR_013724 disease phenotype-associated
VAR_013724 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_013725 comment A primary colorectal cancer
VAR_013725 commonName VAR_013725
VAR_013726 comment A primary colorectal cancer
VAR_013726 commonName VAR_013726
VAR_013727 comment A primary colorectal cancer
VAR_013727 commonName VAR_013727
VAR_013729 comment A primary colorectal cancer
VAR_013729 commonName VAR_013729
VAR_013730 comment A primary colorectal cancer
VAR_013730 commonName VAR_013730
VAR_013732 comment A primary colorectal cancer
VAR_013732 commonName VAR_013732
VAR_013733 comment A primary colorectal cancer
VAR_013733 commonName VAR_013733
VAR_013734 comment A primary colorectal cancer
VAR_013734 commonName VAR_013734
VAR_013735 comment A primary colorectal cancer
VAR_013735 commonName VAR_013735
VAR_013736 comment A primary colorectal cancer
VAR_013736 commonName VAR_013736
VAR_013737 comment A primary colorectal cancer
VAR_013737 commonName VAR_013737
VAR_013738 comment A primary colorectal cancer
VAR_013738 commonName VAR_013738
VAR_013740 comment A primary colorectal cancer
VAR_013740 commonName VAR_013740
VAR_013741 comment A primary colorectal cancer
VAR_013741 commonName VAR_013741
VAR_013742 comment A primary colorectal cancer
VAR_013742 commonName VAR_013742
VAR_013743 comment A primary colorectal cancer
VAR_013743 commonName VAR_013743
VAR_013744 comment A primary colorectal cancer
VAR_013744 commonName VAR_013744
VAR_013746 comment A primary colorectal cancer
VAR_013746 commonName VAR_013746
VAR_013747 comment A primary colorectal cancer
VAR_013747 commonName VAR_013747
VAR_013748 comment A primary colorectal cancer
VAR_013748 commonName VAR_013748
VAR_013749 commonName VAR_013749
VAR_013749 disease not phenotype-associated
VAR_013750 commonName VAR_013750
VAR_013750 disease not phenotype-associated
VAR_013751 commonName VAR_013751
VAR_013751 disease not phenotype-associated
VAR_013754 commonName VAR_013754
VAR_013754 disease phenotype-associated
VAR_013754 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]
VAR_013755 commonName VAR_013755
VAR_013755 disease not phenotype-associated
VAR_013756 commonName VAR_013756
VAR_013756 disease not phenotype-associated
VAR_013757 commonName VAR_013757
VAR_013757 disease not phenotype-associated
VAR_013758 commonName VAR_013758
VAR_013758 disease phenotype-associated
VAR_013758 phenoCommon Opitz syndrome type I (OS-I) [MIM:300000]
VAR_013764 commonName VAR_013764
VAR_013764 disease not phenotype-associated
VAR_013765 commonName VAR_013765
VAR_013765 disease not phenotype-associated
VAR_013766 commonName VAR_013766
VAR_013766 disease not phenotype-associated
VAR_013767 commonName VAR_013767
VAR_013767 disease not phenotype-associated
VAR_013769 commonName VAR_013769
VAR_013769 disease not phenotype-associated
VAR_013770 commonName VAR_013770
VAR_013770 disease not phenotype-associated
VAR_013771 commonName VAR_013771
VAR_013771 disease not phenotype-associated
VAR_013772 commonName VAR_013772
VAR_013772 disease not phenotype-associated
VAR_013773 commonName VAR_013773
VAR_013773 disease not phenotype-associated
VAR_013774 commonName VAR_013774
VAR_013774 disease phenotype-associated
VAR_013774 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
VAR_013775 commonName VAR_013775
VAR_013775 disease phenotype-associated
VAR_013775 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
VAR_013776 commonName VAR_013776
VAR_013776 disease phenotype-associated
VAR_013776 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
VAR_013777 commonName VAR_013777
VAR_013777 disease phenotype-associated
VAR_013777 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
VAR_013778 commonName VAR_013778
VAR_013778 disease phenotype-associated
VAR_013778 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
VAR_013779 commonName VAR_013779
VAR_013779 disease not phenotype-associated
VAR_013780 commonName VAR_013780
VAR_013780 disease not phenotype-associated
VAR_013781 commonName VAR_013781
VAR_013781 disease not phenotype-associated
VAR_013782 commonName VAR_013782
VAR_013782 disease not phenotype-associated
VAR_013783 commonName VAR_013783
VAR_013783 disease not phenotype-associated
VAR_013784 commonName VAR_013784
VAR_013784 disease phenotype-associated
VAR_013784 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013785 commonName VAR_013785
VAR_013785 disease phenotype-associated
VAR_013785 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013786 commonName VAR_013786
VAR_013786 disease phenotype-associated
VAR_013786 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013787 commonName VAR_013787
VAR_013787 disease phenotype-associated
VAR_013787 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013788 commonName VAR_013788
VAR_013789 commonName VAR_013789
VAR_013789 disease phenotype-associated
VAR_013789 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013790 commonName VAR_013790
VAR_013791 commonName VAR_013791
VAR_013791 disease phenotype-associated
VAR_013791 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013792 commonName VAR_013792
VAR_013792 disease phenotype-associated
VAR_013792 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_013817 commonName VAR_013817
VAR_013817 disease phenotype-associated
VAR_013817 phenoCommon McLeod syndrome (MLS) [MIM:300842]
VAR_013818 commonName VAR_013818
VAR_013818 disease phenotype-associated
VAR_013818 phenoCommon McLeod syndrome (MLS) [MIM:300842]
VAR_013819 commonName VAR_013819
VAR_013819 disease not phenotype-associated
VAR_013820 commonName VAR_013820
VAR_013820 disease not phenotype-associated
VAR_013821 commonName VAR_013821
VAR_013821 disease not phenotype-associated
VAR_013822 commonName VAR_013822
VAR_013822 disease not phenotype-associated
VAR_013823 commonName VAR_013823
VAR_013823 disease not phenotype-associated
VAR_013824 commonName VAR_013824
VAR_013824 disease not phenotype-associated
VAR_013825 commonName VAR_013825
VAR_013825 disease not phenotype-associated
VAR_013826 commonName VAR_013826
VAR_013826 disease not phenotype-associated
VAR_013827 commonName VAR_013827
VAR_013827 disease not phenotype-associated
VAR_013828 commonName VAR_013828
VAR_013828 disease not phenotype-associated
VAR_013829 commonName VAR_013829
VAR_013829 disease phenotype-associated
VAR_013829 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_013830 commonName VAR_013830
VAR_013830 disease not phenotype-associated
VAR_013831 commonName VAR_013831
VAR_013831 disease not phenotype-associated
VAR_013832 commonName VAR_013832
VAR_013832 disease not phenotype-associated
VAR_013833 commonName VAR_013833
VAR_013833 disease not phenotype-associated
VAR_013835 commonName VAR_013835
VAR_013835 disease not phenotype-associated
VAR_013836 commonName VAR_013836
VAR_013836 disease not phenotype-associated
VAR_013837 commonName VAR_013837
VAR_013837 disease phenotype-associated
VAR_013837 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_013838 commonName VAR_013838
VAR_013838 disease phenotype-associated
VAR_013838 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_013839 commonName VAR_013839
VAR_013839 disease phenotype-associated
VAR_013839 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_013840 commonName VAR_013840
VAR_013840 disease not phenotype-associated
VAR_013841 commonName VAR_013841
VAR_013841 disease not phenotype-associated
VAR_013842 commonName VAR_013842
VAR_013842 disease phenotype-associated
VAR_013842 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013843 commonName VAR_013843
VAR_013843 disease phenotype-associated
VAR_013843 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013844 commonName VAR_013844
VAR_013844 disease phenotype-associated
VAR_013844 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013845 commonName VAR_013845
VAR_013845 disease phenotype-associated
VAR_013845 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013846 commonName VAR_013846
VAR_013846 disease phenotype-associated
VAR_013846 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013847 commonName VAR_013847
VAR_013847 disease phenotype-associated
VAR_013847 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013848 commonName VAR_013848
VAR_013848 disease phenotype-associated
VAR_013848 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013849 commonName VAR_013849
VAR_013849 disease phenotype-associated
VAR_013849 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013850 commonName VAR_013850
VAR_013850 disease phenotype-associated
VAR_013850 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550]
VAR_013864 commonName VAR_013864
VAR_013864 disease not phenotype-associated
VAR_013865 commonName VAR_013865
VAR_013865 disease not phenotype-associated
VAR_013866 commonName VAR_013866
VAR_013866 disease not phenotype-associated
VAR_013867 commonName VAR_013867
VAR_013867 disease phenotype-associated
VAR_013867 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013868 commonName VAR_013868
VAR_013868 disease phenotype-associated
VAR_013868 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013869 commonName VAR_013869
VAR_013869 disease phenotype-associated
VAR_013869 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013870 commonName VAR_013870
VAR_013870 disease phenotype-associated
VAR_013870 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013871 commonName VAR_013871
VAR_013871 disease phenotype-associated
VAR_013871 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013872 commonName VAR_013872
VAR_013872 disease phenotype-associated
VAR_013872 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013873 commonName VAR_013873
VAR_013873 disease phenotype-associated
VAR_013873 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013874 commonName VAR_013874
VAR_013874 disease phenotype-associated
VAR_013874 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013875 commonName VAR_013875
VAR_013875 disease phenotype-associated
VAR_013875 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013876 commonName VAR_013876
VAR_013876 disease phenotype-associated
VAR_013876 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013877 commonName VAR_013877
VAR_013877 disease phenotype-associated
VAR_013877 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013878 commonName VAR_013878
VAR_013878 disease phenotype-associated
VAR_013878 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013879 commonName VAR_013879
VAR_013879 disease phenotype-associated
VAR_013879 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013880 commonName VAR_013880
VAR_013880 disease phenotype-associated
VAR_013880 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013881 commonName VAR_013881
VAR_013881 disease phenotype-associated
VAR_013881 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013882 commonName VAR_013882
VAR_013882 disease phenotype-associated
VAR_013882 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]
VAR_013883 commonName VAR_013883
VAR_013883 disease not phenotype-associated
VAR_013884 commonName VAR_013884
VAR_013884 disease not phenotype-associated
VAR_013885 commonName VAR_013885
VAR_013885 disease not phenotype-associated
VAR_013886 commonName VAR_013886
VAR_013886 disease not phenotype-associated
VAR_013887 commonName VAR_013887
VAR_013887 disease not phenotype-associated
VAR_013888 commonName VAR_013888
VAR_013888 disease not phenotype-associated
VAR_013889 commonName VAR_013889
VAR_013889 disease not phenotype-associated
VAR_013890 commonName VAR_013890
VAR_013890 disease not phenotype-associated
VAR_013891 commonName VAR_013891
VAR_013891 disease not phenotype-associated
VAR_013892 commonName VAR_013892
VAR_013892 disease not phenotype-associated
VAR_013893 commonName VAR_013893
VAR_013893 disease not phenotype-associated
VAR_013894 commonName VAR_013894
VAR_013894 disease not phenotype-associated
VAR_013895 commonName VAR_013895
VAR_013895 disease not phenotype-associated
VAR_013896 commonName VAR_013896
VAR_013896 disease not phenotype-associated
VAR_013897 commonName VAR_013897
VAR_013897 disease not phenotype-associated
VAR_013898 commonName VAR_013898
VAR_013898 disease not phenotype-associated
VAR_013899 commonName VAR_013899
VAR_013899 disease not phenotype-associated
VAR_013900 commonName VAR_013900
VAR_013900 disease not phenotype-associated
VAR_013901 commonName VAR_013901
VAR_013901 disease not phenotype-associated
VAR_013902 commonName VAR_013902
VAR_013902 disease not phenotype-associated
VAR_013903 commonName VAR_013903
VAR_013903 disease not phenotype-associated
VAR_013904 commonName VAR_013904
VAR_013904 disease not phenotype-associated
VAR_013905 commonName VAR_013905
VAR_013905 disease not phenotype-associated
VAR_013906 commonName VAR_013906
VAR_013906 disease not phenotype-associated
VAR_013907 commonName VAR_013907
VAR_013907 disease not phenotype-associated
VAR_013914 commonName VAR_013914
VAR_013914 disease not phenotype-associated
VAR_013915 commonName VAR_013915
VAR_013915 disease not phenotype-associated
VAR_013916 commonName VAR_013916
VAR_013916 disease not phenotype-associated
VAR_013917 commonName VAR_013917
VAR_013917 disease not phenotype-associated
VAR_013918 commonName VAR_013918
VAR_013918 disease not phenotype-associated
VAR_013919 commonName VAR_013919
VAR_013919 disease not phenotype-associated
VAR_013920 commonName VAR_013920
VAR_013920 disease not phenotype-associated
VAR_013921 commonName VAR_013921
VAR_013921 disease not phenotype-associated
VAR_013922 commonName VAR_013922
VAR_013922 disease not phenotype-associated
VAR_013923 commonName VAR_013923
VAR_013923 disease not phenotype-associated
VAR_013924 commonName VAR_013924
VAR_013924 disease not phenotype-associated
VAR_013925 commonName VAR_013925
VAR_013925 disease not phenotype-associated
VAR_013926 commonName VAR_013926
VAR_013926 disease not phenotype-associated
VAR_013927 commonName VAR_013927
VAR_013927 disease not phenotype-associated
VAR_013928 commonName VAR_013928
VAR_013928 disease not phenotype-associated
VAR_013929 commonName VAR_013929
VAR_013929 disease not phenotype-associated
VAR_013930 commonName VAR_013930
VAR_013930 disease not phenotype-associated
VAR_013931 commonName VAR_013931
VAR_013931 disease not phenotype-associated
VAR_013932 commonName VAR_013932
VAR_013932 disease not phenotype-associated
VAR_013933 commonName VAR_013933
VAR_013933 disease not phenotype-associated
VAR_013934 commonName VAR_013934
VAR_013934 disease not phenotype-associated
VAR_013935 commonName VAR_013935
VAR_013935 disease not phenotype-associated
VAR_013936 commonName VAR_013936
VAR_013936 disease not phenotype-associated
VAR_013937 commonName VAR_013937
VAR_013937 disease not phenotype-associated
VAR_013938 commonName VAR_013938
VAR_013939 commonName VAR_013939
VAR_013939 disease phenotype-associated
VAR_013939 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_013943 commonName VAR_013943
VAR_013943 disease not phenotype-associated
VAR_013944 commonName VAR_013944
VAR_013944 disease not phenotype-associated
VAR_013945 commonName VAR_013945
VAR_013945 disease not phenotype-associated
VAR_013946 commonName VAR_013946
VAR_013946 disease not phenotype-associated
VAR_013947 commonName VAR_013947
VAR_013947 disease not phenotype-associated
VAR_013948 commonName VAR_013948
VAR_013948 disease not phenotype-associated
VAR_013949 commonName VAR_013949
VAR_013949 disease phenotype-associated
VAR_013949 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_013950 commonName VAR_013950
VAR_013951 commonName VAR_013951
VAR_013951 disease phenotype-associated
VAR_013951 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_013952 commonName VAR_013952
VAR_013953 commonName VAR_013953
VAR_013953 disease phenotype-associated
VAR_013953 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_013954 commonName VAR_013954
VAR_013956 commonName VAR_013956
VAR_013956 disease phenotype-associated
VAR_013956 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013957 commonName VAR_013957
VAR_013957 disease phenotype-associated
VAR_013957 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013958 commonName VAR_013958
VAR_013958 disease phenotype-associated
VAR_013958 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013959 commonName VAR_013959
VAR_013959 disease phenotype-associated
VAR_013959 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013960 commonName VAR_013960
VAR_013960 disease not phenotype-associated
VAR_013961 commonName VAR_013961
VAR_013961 disease phenotype-associated
VAR_013961 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013962 commonName VAR_013962
VAR_013962 disease not phenotype-associated
VAR_013963 commonName VAR_013963
VAR_013963 disease phenotype-associated
VAR_013963 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013964 commonName VAR_013964
VAR_013964 disease phenotype-associated
VAR_013964 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_013970 commonName VAR_013970
VAR_013971 commonName VAR_013971
VAR_013972 commonName VAR_013972
VAR_013972 disease phenotype-associated
VAR_013972 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013973 commonName VAR_013973
VAR_013973 disease phenotype-associated
VAR_013973 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013974 commonName VAR_013974
VAR_013974 disease phenotype-associated
VAR_013974 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013975 commonName VAR_013975
VAR_013975 disease phenotype-associated
VAR_013975 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013976 commonName VAR_013976
VAR_013976 disease phenotype-associated
VAR_013976 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013977 commonName VAR_013977
VAR_013977 disease phenotype-associated
VAR_013977 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013978 commonName VAR_013978
VAR_013978 disease phenotype-associated
VAR_013978 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013979 commonName VAR_013979
VAR_013979 disease phenotype-associated
VAR_013979 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013980 commonName VAR_013980
VAR_013980 disease phenotype-associated
VAR_013980 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013981 commonName VAR_013981
VAR_013981 disease phenotype-associated
VAR_013981 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013982 commonName VAR_013982
VAR_013982 disease phenotype-associated
VAR_013982 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013983 commonName VAR_013983
VAR_013983 disease phenotype-associated
VAR_013983 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013984 commonName VAR_013984
VAR_013984 disease phenotype-associated
VAR_013984 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013985 commonName VAR_013985
VAR_013985 disease phenotype-associated
VAR_013985 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013986 commonName VAR_013986
VAR_013986 disease phenotype-associated
VAR_013986 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013987 commonName VAR_013987
VAR_013987 disease phenotype-associated
VAR_013987 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013988 commonName VAR_013988
VAR_013988 disease phenotype-associated
VAR_013988 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013989 commonName VAR_013989
VAR_013989 disease phenotype-associated
VAR_013989 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013990 commonName VAR_013990
VAR_013990 disease phenotype-associated
VAR_013990 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013991 commonName VAR_013991
VAR_013991 disease phenotype-associated
VAR_013991 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013992 commonName VAR_013992
VAR_013992 disease phenotype-associated
VAR_013992 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013993 commonName VAR_013993
VAR_013993 disease phenotype-associated
VAR_013993 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013994 commonName VAR_013994
VAR_013994 disease phenotype-associated
VAR_013994 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013995 commonName VAR_013995
VAR_013995 disease phenotype-associated
VAR_013995 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013996 commonName VAR_013996
VAR_013996 disease phenotype-associated
VAR_013996 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013997 commonName VAR_013997
VAR_013997 disease phenotype-associated
VAR_013997 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013998 commonName VAR_013998
VAR_013998 disease phenotype-associated
VAR_013998 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_013999 commonName VAR_013999
VAR_013999 disease phenotype-associated
VAR_013999 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_014000 commonName VAR_014000
VAR_014000 disease phenotype-associated
VAR_014000 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_014001 commonName VAR_014001
VAR_014001 disease phenotype-associated
VAR_014001 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_014002 commonName VAR_014002
VAR_014002 disease phenotype-associated
VAR_014002 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014003 commonName VAR_014003
VAR_014003 disease phenotype-associated
VAR_014003 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014004 commonName VAR_014004
VAR_014004 disease phenotype-associated
VAR_014004 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014005 commonName VAR_014005
VAR_014005 disease phenotype-associated
VAR_014005 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014006 commonName VAR_014006
VAR_014006 disease phenotype-associated
VAR_014006 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014007 commonName VAR_014007
VAR_014007 disease phenotype-associated
VAR_014007 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014008 commonName VAR_014008
VAR_014008 disease phenotype-associated
VAR_014008 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014009 commonName VAR_014009
VAR_014009 disease phenotype-associated
VAR_014009 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014010 commonName VAR_014010
VAR_014010 disease phenotype-associated
VAR_014010 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014011 commonName VAR_014011
VAR_014011 disease phenotype-associated
VAR_014011 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014012 commonName VAR_014012
VAR_014012 disease phenotype-associated
VAR_014012 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014013 commonName VAR_014013
VAR_014013 disease phenotype-associated
VAR_014013 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014015 commonName VAR_014015
VAR_014015 disease phenotype-associated
VAR_014015 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600]
VAR_014016 commonName VAR_014016
VAR_014016 disease not phenotype-associated
VAR_014017 commonName VAR_014017
VAR_014017 disease not phenotype-associated
VAR_014018 commonName VAR_014018
VAR_014018 disease not phenotype-associated
VAR_014019 commonName VAR_014019
VAR_014019 disease phenotype-associated
VAR_014019 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100]
VAR_014020 commonName VAR_014020
VAR_014020 disease phenotype-associated
VAR_014020 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_014021 commonName VAR_014021
VAR_014021 disease phenotype-associated
VAR_014021 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_014022 commonName VAR_014022
VAR_014022 disease phenotype-associated
VAR_014022 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_014023 commonName VAR_014023
VAR_014023 disease phenotype-associated
VAR_014023 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100]
VAR_014025 commonName VAR_014025
VAR_014025 disease not phenotype-associated
VAR_014026 commonName VAR_014026
VAR_014026 disease phenotype-associated
VAR_014026 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014027 commonName VAR_014027
VAR_014027 disease phenotype-associated
VAR_014027 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014028 commonName VAR_014028
VAR_014028 disease phenotype-associated
VAR_014028 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014029 commonName VAR_014029
VAR_014029 disease phenotype-associated
VAR_014029 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014030 commonName VAR_014030
VAR_014030 disease phenotype-associated
VAR_014030 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014031 commonName VAR_014031
VAR_014031 disease phenotype-associated
VAR_014031 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014032 commonName VAR_014032
VAR_014032 disease phenotype-associated
VAR_014032 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
VAR_014033 commonName VAR_014033
VAR_014033 disease not phenotype-associated
VAR_014034 commonName VAR_014034
VAR_014034 disease phenotype-associated
VAR_014034 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_014037 commonName VAR_014037
VAR_014038 commonName VAR_014038
VAR_014038 disease phenotype-associated
VAR_014038 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_014039 commonName VAR_014039
VAR_014039 disease phenotype-associated
VAR_014039 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014040 commonName VAR_014040
VAR_014040 disease phenotype-associated
VAR_014040 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014041 commonName VAR_014041
VAR_014041 disease phenotype-associated
VAR_014041 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014042 commonName VAR_014042
VAR_014042 disease not phenotype-associated
VAR_014043 commonName VAR_014043
VAR_014043 disease not phenotype-associated
VAR_014044 commonName VAR_014044
VAR_014044 disease phenotype-associated
VAR_014044 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014045 commonName VAR_014045
VAR_014045 disease not phenotype-associated
VAR_014046 commonName VAR_014046
VAR_014046 disease phenotype-associated
VAR_014046 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014047 commonName VAR_014047
VAR_014047 disease not phenotype-associated
VAR_014048 commonName VAR_014048
VAR_014048 disease phenotype-associated
VAR_014048 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014049 commonName VAR_014049
VAR_014049 disease not phenotype-associated
VAR_014050 commonName VAR_014050
VAR_014050 disease phenotype-associated
VAR_014050 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014051 commonName VAR_014051
VAR_014051 disease phenotype-associated
VAR_014051 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014052 commonName VAR_014052
VAR_014052 disease phenotype-associated
VAR_014052 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014053 commonName VAR_014053
VAR_014053 disease phenotype-associated
VAR_014053 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014054 commonName VAR_014054
VAR_014054 disease phenotype-associated
VAR_014054 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014055 commonName VAR_014055
VAR_014055 disease phenotype-associated
VAR_014055 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014056 commonName VAR_014056
VAR_014056 disease phenotype-associated
VAR_014056 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014057 commonName VAR_014057
VAR_014057 disease not phenotype-associated
VAR_014058 commonName VAR_014058
VAR_014058 disease phenotype-associated
VAR_014058 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014059 commonName VAR_014059
VAR_014059 disease phenotype-associated
VAR_014059 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014060 commonName VAR_014060
VAR_014060 disease not phenotype-associated
VAR_014061 commonName VAR_014061
VAR_014061 disease phenotype-associated
VAR_014061 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_014062 commonName VAR_014062
VAR_014062 disease not phenotype-associated
VAR_014063 commonName VAR_014063
VAR_014063 disease not phenotype-associated
VAR_014064 commonName VAR_014064
VAR_014064 disease not phenotype-associated
VAR_014065 commonName VAR_014065
VAR_014065 disease not phenotype-associated
VAR_014066 commonName VAR_014066
VAR_014067 commonName VAR_014067
VAR_014067 disease not phenotype-associated
VAR_014069 commonName VAR_014069
VAR_014071 commonName VAR_014071
VAR_014071 disease phenotype-associated
VAR_014071 phenoCommon Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]
VAR_014072 commonName VAR_014072
VAR_014072 disease not phenotype-associated
VAR_014073 commonName VAR_014073
VAR_014073 disease not phenotype-associated
VAR_014074 commonName VAR_014074
VAR_014074 disease not phenotype-associated
VAR_014075 commonName VAR_014075
VAR_014075 disease not phenotype-associated
VAR_014076 commonName VAR_014076
VAR_014076 disease not phenotype-associated
VAR_014077 commonName VAR_014077
VAR_014077 disease phenotype-associated
VAR_014077 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_014078 commonName VAR_014078
VAR_014078 disease not phenotype-associated
VAR_014079 commonName VAR_014079
VAR_014079 disease not phenotype-associated
VAR_014080 commonName VAR_014080
VAR_014080 disease not phenotype-associated
VAR_014081 commonName VAR_014081
VAR_014081 disease not phenotype-associated
VAR_014082 commonName VAR_014082
VAR_014082 disease not phenotype-associated
VAR_014083 commonName VAR_014083
VAR_014083 disease not phenotype-associated
VAR_014091 commonName VAR_014091
VAR_014091 disease not phenotype-associated
VAR_014094 commonName VAR_014094
VAR_014094 disease not phenotype-associated
VAR_014095 commonName VAR_014095
VAR_014095 disease not phenotype-associated
VAR_014096 commonName VAR_014096
VAR_014096 disease not phenotype-associated
VAR_014097 commonName VAR_014097
VAR_014097 disease not phenotype-associated
VAR_014098 commonName VAR_014098
VAR_014098 disease not phenotype-associated
VAR_014099 commonName VAR_014099
VAR_014099 disease not phenotype-associated
VAR_014100 commonName VAR_014100
VAR_014100 disease not phenotype-associated
VAR_014101 commonName VAR_014101
VAR_014101 disease not phenotype-associated
VAR_014103 commonName VAR_014103
VAR_014103 disease phenotype-associated
VAR_014103 phenoCommon Microcephaly Amish type (MCPHA) [MIM:607196]
VAR_014104 commonName VAR_014104
VAR_014104 disease phenotype-associated
VAR_014104 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_014104 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014105 commonName VAR_014105
VAR_014105 disease phenotype-associated
VAR_014105 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014105 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014106 commonName VAR_014106
VAR_014106 disease phenotype-associated
VAR_014106 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014107 commonName VAR_014107
VAR_014107 disease phenotype-associated
VAR_014107 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014108 commonName VAR_014108
VAR_014108 disease phenotype-associated
VAR_014108 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014109 commonName VAR_014109
VAR_014109 disease not phenotype-associated
VAR_014110 commonName VAR_014110
VAR_014110 disease phenotype-associated
VAR_014110 phenoCommon Barth syndrome (BTHS) [MIM:302060]
VAR_014111 commonName VAR_014111
VAR_014111 disease phenotype-associated
VAR_014111 phenoCommon Barth syndrome (BTHS) [MIM:302060]
VAR_014112 commonName VAR_014112
VAR_014112 disease phenotype-associated
VAR_014112 phenoCommon Barth syndrome (BTHS) [MIM:302060]
VAR_014113 comment A melanoma patient
VAR_014113 commonName VAR_014113
VAR_014114 commonName VAR_014114
VAR_014114 disease not phenotype-associated
VAR_014115 commonName VAR_014115
VAR_014115 disease not phenotype-associated
VAR_014116 commonName VAR_014116
VAR_014116 disease phenotype-associated
VAR_014116 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_014117 commonName VAR_014117
VAR_014117 disease phenotype-associated
VAR_014117 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_014122 commonName VAR_014122
VAR_014122 disease phenotype-associated
VAR_014122 phenoCommon Schwartz-Jampel syndrome (SJS1) [MIM:255800]
VAR_014123 commonName VAR_014123
VAR_014123 disease not phenotype-associated
VAR_014124 commonName VAR_014124
VAR_014124 disease phenotype-associated
VAR_014124 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_014124 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014125 commonName VAR_014125
VAR_014125 disease phenotype-associated
VAR_014125 phenoCommon Deafness autosomal dominant type 36 (DFNA36) [MIM:606705]
VAR_014127 commonName VAR_014127
VAR_014127 disease not phenotype-associated
VAR_014128 commonName VAR_014128
VAR_014128 disease not phenotype-associated
VAR_014129 commonName VAR_014129
VAR_014129 disease not phenotype-associated
VAR_014130 commonName VAR_014130
VAR_014130 disease not phenotype-associated
VAR_014131 commonName VAR_014131
VAR_014131 disease not phenotype-associated
VAR_014132 commonName VAR_014132
VAR_014132 disease not phenotype-associated
VAR_014133 commonName VAR_014133
VAR_014133 disease not phenotype-associated
VAR_014134 commonName VAR_014134
VAR_014134 disease not phenotype-associated
VAR_014135 commonName VAR_014135
VAR_014135 disease not phenotype-associated
VAR_014136 commonName VAR_014136
VAR_014136 disease not phenotype-associated
VAR_014137 commonName VAR_014137
VAR_014137 disease not phenotype-associated
VAR_014138 commonName VAR_014138
VAR_014138 disease not phenotype-associated
VAR_014139 commonName VAR_014139
VAR_014139 disease not phenotype-associated
VAR_014140 commonName VAR_014140
VAR_014140 disease not phenotype-associated
VAR_014141 commonName VAR_014141
VAR_014141 disease phenotype-associated
VAR_014141 phenoCommon Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
VAR_014142 commonName VAR_014142
VAR_014142 disease not phenotype-associated
VAR_014143 commonName VAR_014143
VAR_014143 disease phenotype-associated
VAR_014143 phenoCommon Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
VAR_014144 commonName VAR_014144
VAR_014144 disease not phenotype-associated
VAR_014145 commonName VAR_014145
VAR_014145 disease not phenotype-associated
VAR_014146 commonName VAR_014146
VAR_014146 disease not phenotype-associated
VAR_014147 commonName VAR_014147
VAR_014147 disease not phenotype-associated
VAR_014148 commonName VAR_014148
VAR_014148 disease not phenotype-associated
VAR_014149 commonName VAR_014149
VAR_014149 disease not phenotype-associated
VAR_014150 commonName VAR_014150
VAR_014150 disease not phenotype-associated
VAR_014151 commonName VAR_014151
VAR_014151 disease not phenotype-associated
VAR_014152 commonName VAR_014152
VAR_014152 disease not phenotype-associated
VAR_014153 commonName VAR_014153
VAR_014153 disease not phenotype-associated
VAR_014154 commonName VAR_014154
VAR_014154 disease not phenotype-associated
VAR_014155 commonName VAR_014155
VAR_014155 disease not phenotype-associated
VAR_014156 commonName VAR_014156
VAR_014156 disease not phenotype-associated
VAR_014157 commonName VAR_014157
VAR_014157 disease not phenotype-associated
VAR_014158 commonName VAR_014158
VAR_014158 disease not phenotype-associated
VAR_014159 commonName VAR_014159
VAR_014159 disease not phenotype-associated
VAR_014160 commonName VAR_014160
VAR_014160 disease not phenotype-associated
VAR_014161 commonName VAR_014161
VAR_014161 disease not phenotype-associated
VAR_014162 commonName VAR_014162
VAR_014162 disease not phenotype-associated
VAR_014163 commonName VAR_014163
VAR_014163 disease not phenotype-associated
VAR_014164 commonName VAR_014164
VAR_014164 disease not phenotype-associated
VAR_014165 commonName VAR_014165
VAR_014165 disease not phenotype-associated
VAR_014166 commonName VAR_014166
VAR_014166 disease not phenotype-associated
VAR_014167 commonName VAR_014167
VAR_014167 disease not phenotype-associated
VAR_014168 commonName VAR_014168
VAR_014168 disease not phenotype-associated
VAR_014169 commonName VAR_014169
VAR_014169 disease not phenotype-associated
VAR_014170 commonName VAR_014170
VAR_014170 disease not phenotype-associated
VAR_014171 commonName VAR_014171
VAR_014171 disease not phenotype-associated
VAR_014172 commonName VAR_014172
VAR_014172 disease not phenotype-associated
VAR_014173 commonName VAR_014173
VAR_014173 disease not phenotype-associated
VAR_014174 commonName VAR_014174
VAR_014174 disease not phenotype-associated
VAR_014175 commonName VAR_014175
VAR_014175 disease not phenotype-associated
VAR_014176 commonName VAR_014176
VAR_014176 disease not phenotype-associated
VAR_014177 commonName VAR_014177
VAR_014177 disease not phenotype-associated
VAR_014178 commonName VAR_014178
VAR_014178 disease not phenotype-associated
VAR_014179 commonName VAR_014179
VAR_014179 disease not phenotype-associated
VAR_014180 commonName VAR_014180
VAR_014180 disease not phenotype-associated
VAR_014181 commonName VAR_014181
VAR_014181 disease not phenotype-associated
VAR_014182 commonName VAR_014182
VAR_014182 disease not phenotype-associated
VAR_014183 commonName VAR_014183
VAR_014183 disease not phenotype-associated
VAR_014186 commonName VAR_014186
VAR_014186 disease not phenotype-associated
VAR_014187 commonName VAR_014187
VAR_014187 disease not phenotype-associated
VAR_014189 commonName VAR_014189
VAR_014189 disease not phenotype-associated
VAR_014190 commonName VAR_014190
VAR_014190 disease not phenotype-associated
VAR_014191 commonName VAR_014191
VAR_014191 disease not phenotype-associated
VAR_014192 commonName VAR_014192
VAR_014192 disease not phenotype-associated
VAR_014197 commonName VAR_014197
VAR_014197 disease phenotype-associated
VAR_014197 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
VAR_014198 commonName VAR_014198
VAR_014198 disease phenotype-associated
VAR_014198 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
VAR_014199 commonName VAR_014199
VAR_014199 disease phenotype-associated
VAR_014199 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_014200 commonName VAR_014200
VAR_014200 disease not phenotype-associated
VAR_014201 commonName VAR_014201
VAR_014201 disease not phenotype-associated
VAR_014204 commonName VAR_014204
VAR_014204 disease phenotype-associated
VAR_014204 phenoCommon Caspase-8 deficiency (CASP8D) [MIM:607271]
VAR_014208 commonName VAR_014208
VAR_014208 disease phenotype-associated
VAR_014208 phenoCommon Colon cancer
VAR_014209 commonName VAR_014209
VAR_014209 disease phenotype-associated
VAR_014209 phenoCommon Colon cancer
VAR_014210 commonName VAR_014210
VAR_014210 disease not phenotype-associated
VAR_014211 commonName VAR_014211
VAR_014211 disease not phenotype-associated
VAR_014212 commonName VAR_014212
VAR_014212 disease not phenotype-associated
VAR_014213 commonName VAR_014213
VAR_014213 disease not phenotype-associated
VAR_014214 commonName VAR_014214
VAR_014214 disease not phenotype-associated
VAR_014215 commonName VAR_014215
VAR_014215 disease phenotype-associated
VAR_014215 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_014216 commonName VAR_014216
VAR_014216 disease phenotype-associated
VAR_014216 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
VAR_014217 commonName VAR_014217
VAR_014217 disease phenotype-associated
VAR_014217 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
VAR_014218 commonName VAR_014218
VAR_014218 disease phenotype-associated
VAR_014218 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_014219 commonName VAR_014219
VAR_014219 disease phenotype-associated
VAR_014219 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_014220 commonName VAR_014220
VAR_014220 disease not phenotype-associated
VAR_014221 comment A non-small cell lung cancer cell line
VAR_014221 commonName VAR_014221
VAR_014222 comment A non-small cell lung cancer cell line
VAR_014222 commonName VAR_014222
VAR_014224 comment Non-small cell lung cancer cell lines
VAR_014224 commonName VAR_014224
VAR_014225 comment Non-small cell lung cancer cell lines
VAR_014225 commonName VAR_014225
VAR_014226 comment A non-small cell lung cancer cell line
VAR_014226 commonName VAR_014226
VAR_014227 comment Non-small cell lung cancer cell lines
VAR_014227 commonName VAR_014227
VAR_014229 commonName VAR_014229
VAR_014229 disease not phenotype-associated
VAR_014230 commonName VAR_014230
VAR_014230 disease not phenotype-associated
VAR_014231 commonName VAR_014231
VAR_014231 disease not phenotype-associated
VAR_014232 commonName VAR_014232
VAR_014232 disease not phenotype-associated
VAR_014236 commonName VAR_014236
VAR_014236 disease phenotype-associated
VAR_014236 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014237 commonName VAR_014237
VAR_014237 disease phenotype-associated
VAR_014237 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014238 commonName VAR_014238
VAR_014238 disease phenotype-associated
VAR_014238 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014239 commonName VAR_014239
VAR_014239 disease phenotype-associated
VAR_014239 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014240 commonName VAR_014240
VAR_014240 disease phenotype-associated
VAR_014240 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014242 commonName VAR_014242
VAR_014242 disease phenotype-associated
VAR_014242 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710]
VAR_014243 commonName VAR_014243
VAR_014243 disease phenotype-associated
VAR_014243 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300]
VAR_014243 phenoCommon Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000]
VAR_014244 commonName VAR_014244
VAR_014244 disease phenotype-associated
VAR_014244 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300]
VAR_014245 commonName VAR_014245
VAR_014245 disease phenotype-associated
VAR_014245 phenoCommon Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000]
VAR_014246 commonName VAR_014246
VAR_014246 disease phenotype-associated
VAR_014246 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300]
VAR_014247 commonName VAR_014247
VAR_014248 commonName VAR_014248
VAR_014249 commonName VAR_014249
VAR_014249 disease not phenotype-associated
VAR_014250 commonName VAR_014250
VAR_014250 disease not phenotype-associated
VAR_014251 commonName VAR_014251
VAR_014251 disease not phenotype-associated
VAR_014252 commonName VAR_014252
VAR_014252 disease not phenotype-associated
VAR_014253 commonName VAR_014253
VAR_014253 disease not phenotype-associated
VAR_014254 commonName VAR_014254
VAR_014254 disease not phenotype-associated
VAR_014255 commonName VAR_014255
VAR_014255 disease not phenotype-associated
VAR_014256 commonName VAR_014256
VAR_014256 disease not phenotype-associated
VAR_014257 commonName VAR_014257
VAR_014257 disease not phenotype-associated
VAR_014258 commonName VAR_014258
VAR_014258 disease not phenotype-associated
VAR_014259 commonName VAR_014259
VAR_014259 disease not phenotype-associated
VAR_014260 commonName VAR_014260
VAR_014260 disease not phenotype-associated
VAR_014261 commonName VAR_014261
VAR_014261 disease not phenotype-associated
VAR_014262 commonName VAR_014262
VAR_014262 disease not phenotype-associated
VAR_014263 commonName VAR_014263
VAR_014263 disease not phenotype-associated
VAR_014264 commonName VAR_014264
VAR_014264 disease phenotype-associated
VAR_014264 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440]
VAR_014265 commonName VAR_014265
VAR_014265 disease phenotype-associated
VAR_014265 phenoCommon Childhood absence epilepsy type 2 (ECA2) [MIM:607681]
VAR_014265 phenoCommon Familial febrile convulsions type 8 (FEB8) [MIM:611277]
VAR_014266 commonName VAR_014266
VAR_014266 disease phenotype-associated
VAR_014266 phenoCommon Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:611277]
VAR_014267 commonName VAR_014267
VAR_014267 disease phenotype-associated
VAR_014267 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_014268 commonName VAR_014268
VAR_014268 disease phenotype-associated
VAR_014268 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_014269 commonName VAR_014269
VAR_014269 disease not phenotype-associated
VAR_014270 commonName VAR_014270
VAR_014270 disease phenotype-associated
VAR_014270 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_014271 commonName VAR_014271
VAR_014271 disease phenotype-associated
VAR_014271 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_014272 commonName VAR_014272
VAR_014272 disease phenotype-associated
VAR_014272 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_014273 commonName VAR_014273
VAR_014273 disease phenotype-associated
VAR_014273 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_014274 commonName VAR_014274
VAR_014274 disease not phenotype-associated
VAR_014277 commonName VAR_014277
VAR_014277 disease not phenotype-associated
VAR_014278 commonName VAR_014278
VAR_014279 commonName VAR_014279
VAR_014280 commonName VAR_014280
VAR_014281 commonName VAR_014281
VAR_014281 disease not phenotype-associated
VAR_014282 commonName VAR_014282
VAR_014283 commonName VAR_014283
VAR_014283 disease not phenotype-associated
VAR_014284 commonName VAR_014284
VAR_014284 disease not phenotype-associated
VAR_014287 commonName VAR_014287
VAR_014287 disease not phenotype-associated
VAR_014290 commonName VAR_014290
VAR_014290 disease not phenotype-associated
VAR_014291 commonName VAR_014291
VAR_014291 disease not phenotype-associated
VAR_014292 commonName VAR_014292
VAR_014292 disease not phenotype-associated
VAR_014293 commonName VAR_014293
VAR_014293 disease not phenotype-associated
VAR_014294 commonName VAR_014294
VAR_014294 disease not phenotype-associated
VAR_014295 commonName VAR_014295
VAR_014295 disease not phenotype-associated
VAR_014296 commonName VAR_014296
VAR_014296 disease not phenotype-associated
VAR_014297 commonName VAR_014297
VAR_014298 commonName VAR_014298
VAR_014298 disease not phenotype-associated
VAR_014299 commonName VAR_014299
VAR_014299 disease not phenotype-associated
VAR_014300 commonName VAR_014300
VAR_014300 disease not phenotype-associated
VAR_014301 commonName VAR_014301
VAR_014301 disease not phenotype-associated
VAR_014302 commonName VAR_014302
VAR_014302 disease not phenotype-associated
VAR_014303 commonName VAR_014303
VAR_014303 disease not phenotype-associated
VAR_014304 commonName VAR_014304
VAR_014304 disease not phenotype-associated
VAR_014305 commonName VAR_014305
VAR_014305 disease not phenotype-associated
VAR_014306 commonName VAR_014306
VAR_014306 disease not phenotype-associated
VAR_014307 commonName VAR_014307
VAR_014307 disease not phenotype-associated
VAR_014308 commonName VAR_014308
VAR_014308 disease not phenotype-associated
VAR_014309 commonName VAR_014309
VAR_014309 disease not phenotype-associated
VAR_014310 commonName VAR_014310
VAR_014310 disease not phenotype-associated
VAR_014311 commonName VAR_014311
VAR_014311 disease not phenotype-associated
VAR_014312 commonName VAR_014312
VAR_014312 disease not phenotype-associated
VAR_014313 commonName VAR_014313
VAR_014313 disease not phenotype-associated
VAR_014314 commonName VAR_014314
VAR_014314 disease not phenotype-associated
VAR_014316 commonName VAR_014316
VAR_014316 disease not phenotype-associated
VAR_014317 commonName VAR_014317
VAR_014317 disease not phenotype-associated
VAR_014318 commonName VAR_014318
VAR_014318 disease not phenotype-associated
VAR_014319 commonName VAR_014319
VAR_014319 disease not phenotype-associated
VAR_014320 commonName VAR_014320
VAR_014320 disease not phenotype-associated
VAR_014321 commonName VAR_014321
VAR_014321 disease not phenotype-associated
VAR_014322 commonName VAR_014322
VAR_014322 disease not phenotype-associated
VAR_014323 commonName VAR_014323
VAR_014323 disease not phenotype-associated
VAR_014325 commonName VAR_014325
VAR_014325 disease not phenotype-associated
VAR_014326 commonName VAR_014326
VAR_014326 disease not phenotype-associated
VAR_014327 commonName VAR_014327
VAR_014327 disease not phenotype-associated
VAR_014328 commonName VAR_014328
VAR_014328 disease not phenotype-associated
VAR_014329 commonName VAR_014329
VAR_014329 disease not phenotype-associated
VAR_014330 commonName VAR_014330
VAR_014330 disease not phenotype-associated
VAR_014331 commonName VAR_014331
VAR_014331 disease not phenotype-associated
VAR_014332 commonName VAR_014332
VAR_014332 disease not phenotype-associated
VAR_014333 commonName VAR_014333
VAR_014333 disease not phenotype-associated
VAR_014334 commonName VAR_014334
VAR_014334 disease not phenotype-associated
VAR_014335 commonName VAR_014335
VAR_014335 disease not phenotype-associated
VAR_014336 commonName VAR_014336
VAR_014336 disease not phenotype-associated
VAR_014337 commonName VAR_014337
VAR_014337 disease not phenotype-associated
VAR_014338 commonName VAR_014338
VAR_014338 disease not phenotype-associated
VAR_014339 commonName VAR_014339
VAR_014339 disease not phenotype-associated
VAR_014340 commonName VAR_014340
VAR_014340 disease not phenotype-associated
VAR_014345 commonName VAR_014345
VAR_014345 disease not phenotype-associated
VAR_014346 commonName VAR_014346
VAR_014346 disease not phenotype-associated
VAR_014348 commonName VAR_014348
VAR_014348 disease not phenotype-associated
VAR_014349 commonName VAR_014349
VAR_014349 disease not phenotype-associated
VAR_014350 commonName VAR_014350
VAR_014350 disease not phenotype-associated
VAR_014351 commonName VAR_014351
VAR_014351 disease not phenotype-associated
VAR_014352 commonName VAR_014352
VAR_014352 disease not phenotype-associated
VAR_014353 commonName VAR_014353
VAR_014353 disease not phenotype-associated
VAR_014354 commonName VAR_014354
VAR_014354 disease not phenotype-associated
VAR_014355 commonName VAR_014355
VAR_014355 disease not phenotype-associated
VAR_014356 commonName VAR_014356
VAR_014356 disease not phenotype-associated
VAR_014357 commonName VAR_014357
VAR_014357 disease not phenotype-associated
VAR_014359 commonName VAR_014359
VAR_014359 disease not phenotype-associated
VAR_014360 commonName VAR_014360
VAR_014360 disease not phenotype-associated
VAR_014361 commonName VAR_014361
VAR_014361 disease not phenotype-associated
VAR_014362 commonName VAR_014362
VAR_014362 disease not phenotype-associated
VAR_014363 commonName VAR_014363
VAR_014363 disease phenotype-associated
VAR_014363 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_014364 commonName VAR_014364
VAR_014364 disease phenotype-associated
VAR_014364 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_014365 commonName VAR_014365
VAR_014365 disease phenotype-associated
VAR_014365 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_014366 commonName VAR_014366
VAR_014366 disease phenotype-associated
VAR_014366 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014366 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014367 commonName VAR_014367
VAR_014367 disease phenotype-associated
VAR_014367 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014368 commonName VAR_014368
VAR_014368 disease phenotype-associated
VAR_014368 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014369 commonName VAR_014369
VAR_014369 disease phenotype-associated
VAR_014369 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900]
VAR_014370 commonName VAR_014370
VAR_014370 disease phenotype-associated
VAR_014370 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_014371 commonName VAR_014371
VAR_014371 disease phenotype-associated
VAR_014371 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014373 commonName VAR_014373
VAR_014373 disease phenotype-associated
VAR_014373 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014374 commonName VAR_014374
VAR_014374 disease phenotype-associated
VAR_014374 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014375 commonName VAR_014375
VAR_014375 disease phenotype-associated
VAR_014375 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014376 commonName VAR_014376
VAR_014376 disease phenotype-associated
VAR_014376 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014377 commonName VAR_014377
VAR_014377 disease phenotype-associated
VAR_014377 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014378 commonName VAR_014378
VAR_014378 disease phenotype-associated
VAR_014378 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014379 commonName VAR_014379
VAR_014379 disease phenotype-associated
VAR_014379 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014380 commonName VAR_014380
VAR_014380 disease phenotype-associated
VAR_014380 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014382 commonName VAR_014382
VAR_014382 disease phenotype-associated
VAR_014382 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014383 commonName VAR_014383
VAR_014383 disease phenotype-associated
VAR_014383 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014384 commonName VAR_014384
VAR_014384 disease phenotype-associated
VAR_014384 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014385 commonName VAR_014385
VAR_014385 disease phenotype-associated
VAR_014385 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014386 commonName VAR_014386
VAR_014386 disease phenotype-associated
VAR_014386 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014387 commonName VAR_014387
VAR_014387 disease phenotype-associated
VAR_014387 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_014391 commonName VAR_014391
VAR_014391 disease phenotype-associated
VAR_014391 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014392 commonName VAR_014392
VAR_014392 disease phenotype-associated
VAR_014392 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014401 commonName VAR_014401
VAR_014401 disease not phenotype-associated
VAR_014402 commonName VAR_014402
VAR_014402 disease not phenotype-associated
VAR_014403 commonName VAR_014403
VAR_014403 disease not phenotype-associated
VAR_014404 commonName VAR_014404
VAR_014404 disease not phenotype-associated
VAR_014405 commonName VAR_014405
VAR_014405 disease phenotype-associated
VAR_014405 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014406 commonName VAR_014406
VAR_014406 disease phenotype-associated
VAR_014406 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014407 commonName VAR_014407
VAR_014407 disease phenotype-associated
VAR_014407 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014408 commonName VAR_014408
VAR_014408 disease phenotype-associated
VAR_014408 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014409 commonName VAR_014409
VAR_014409 disease phenotype-associated
VAR_014409 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014410 commonName VAR_014410
VAR_014410 disease phenotype-associated
VAR_014410 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014411 commonName VAR_014411
VAR_014411 disease phenotype-associated
VAR_014411 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014412 commonName VAR_014412
VAR_014412 disease phenotype-associated
VAR_014412 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014413 commonName VAR_014413
VAR_014413 disease phenotype-associated
VAR_014413 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014414 commonName VAR_014414
VAR_014414 disease phenotype-associated
VAR_014414 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014415 commonName VAR_014415
VAR_014415 disease phenotype-associated
VAR_014415 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014416 commonName VAR_014416
VAR_014416 disease phenotype-associated
VAR_014416 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014417 commonName VAR_014417
VAR_014417 disease phenotype-associated
VAR_014417 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014418 commonName VAR_014418
VAR_014418 disease phenotype-associated
VAR_014418 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014419 commonName VAR_014419
VAR_014419 disease phenotype-associated
VAR_014419 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014420 commonName VAR_014420
VAR_014420 disease phenotype-associated
VAR_014420 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_014421 commonName VAR_014421
VAR_014421 disease phenotype-associated
VAR_014421 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_014422 commonName VAR_014422
VAR_014422 disease phenotype-associated
VAR_014422 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_014423 commonName VAR_014423
VAR_014423 disease phenotype-associated
VAR_014423 phenoCommon Lathosterolosis (LATHST) [MIM:607330]
VAR_014424 commonName VAR_014424
VAR_014424 disease phenotype-associated
VAR_014424 phenoCommon Lathosterolosis (LATHST) [MIM:607330]
VAR_014426 commonName VAR_014426
VAR_014426 disease phenotype-associated
VAR_014426 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_014427 commonName VAR_014427
VAR_014427 disease not phenotype-associated
VAR_014428 comment A breast cancer sample
VAR_014428 commonName VAR_014428
VAR_014429 comment A breast cancer sample
VAR_014429 commonName VAR_014429
VAR_014430 comment A pancreatic cancer sample
VAR_014430 commonName VAR_014430
VAR_014431 comment A colorectal cancer sample
VAR_014431 commonName VAR_014431
VAR_014432 commonName VAR_014432
VAR_014432 disease not phenotype-associated
VAR_014433 commonName VAR_014433
VAR_014433 disease not phenotype-associated
VAR_014434 commonName VAR_014434
VAR_014434 disease not phenotype-associated
VAR_014435 commonName VAR_014435
VAR_014435 disease not phenotype-associated
VAR_014436 commonName VAR_014436
VAR_014436 disease not phenotype-associated
VAR_014437 commonName VAR_014437
VAR_014437 disease not phenotype-associated
VAR_014438 commonName VAR_014438
VAR_014438 disease not phenotype-associated
VAR_014439 commonName VAR_014439
VAR_014439 disease not phenotype-associated
VAR_014444 commonName VAR_014444
VAR_014444 disease not phenotype-associated
VAR_014445 commonName VAR_014445
VAR_014445 disease not phenotype-associated
VAR_014446 commonName VAR_014446
VAR_014446 disease not phenotype-associated
VAR_014447 commonName VAR_014447
VAR_014447 disease not phenotype-associated
VAR_014448 commonName VAR_014448
VAR_014448 disease not phenotype-associated
VAR_014449 commonName VAR_014449
VAR_014449 disease not phenotype-associated
VAR_014450 commonName VAR_014450
VAR_014450 disease not phenotype-associated
VAR_014451 commonName VAR_014451
VAR_014451 disease not phenotype-associated
VAR_014452 commonName VAR_014452
VAR_014452 disease not phenotype-associated
VAR_014453 commonName VAR_014453
VAR_014453 disease not phenotype-associated
VAR_014454 commonName VAR_014454
VAR_014454 disease not phenotype-associated
VAR_014455 commonName VAR_014455
VAR_014455 disease not phenotype-associated
VAR_014456 commonName VAR_014456
VAR_014456 disease not phenotype-associated
VAR_014458 commonName VAR_014458
VAR_014458 disease not phenotype-associated
VAR_014459 commonName VAR_014459
VAR_014459 disease not phenotype-associated
VAR_014461 commonName VAR_014461
VAR_014461 disease not phenotype-associated
VAR_014462 commonName VAR_014462
VAR_014462 disease not phenotype-associated
VAR_014463 commonName VAR_014463
VAR_014463 disease not phenotype-associated
VAR_014464 commonName VAR_014464
VAR_014464 disease not phenotype-associated
VAR_014465 commonName VAR_014465
VAR_014465 disease not phenotype-associated
VAR_014466 commonName VAR_014466
VAR_014466 disease not phenotype-associated
VAR_014467 commonName VAR_014467
VAR_014467 disease not phenotype-associated
VAR_014468 commonName VAR_014468
VAR_014468 disease not phenotype-associated
VAR_014469 commonName VAR_014469
VAR_014469 disease not phenotype-associated
VAR_014472 commonName VAR_014472
VAR_014472 disease not phenotype-associated
VAR_014473 commonName VAR_014473
VAR_014473 disease not phenotype-associated
VAR_014474 commonName VAR_014474
VAR_014474 disease not phenotype-associated
VAR_014475 commonName VAR_014475
VAR_014475 disease not phenotype-associated
VAR_014476 commonName VAR_014476
VAR_014476 disease not phenotype-associated
VAR_014477 commonName VAR_014477
VAR_014477 disease not phenotype-associated
VAR_014479 commonName VAR_014479
VAR_014479 disease not phenotype-associated
VAR_014480 commonName VAR_014480
VAR_014480 disease not phenotype-associated
VAR_014481 commonName VAR_014481
VAR_014481 disease not phenotype-associated
VAR_014482 commonName VAR_014482
VAR_014482 disease not phenotype-associated
VAR_014483 commonName VAR_014483
VAR_014483 disease not phenotype-associated
VAR_014484 commonName VAR_014484
VAR_014484 disease not phenotype-associated
VAR_014485 commonName VAR_014485
VAR_014485 disease not phenotype-associated
VAR_014486 commonName VAR_014486
VAR_014486 disease not phenotype-associated
VAR_014487 commonName VAR_014487
VAR_014487 disease not phenotype-associated
VAR_014488 commonName VAR_014488
VAR_014488 disease not phenotype-associated
VAR_014489 commonName VAR_014489
VAR_014489 disease not phenotype-associated
VAR_014490 commonName VAR_014490
VAR_014490 disease not phenotype-associated
VAR_014491 commonName VAR_014491
VAR_014491 disease not phenotype-associated
VAR_014492 commonName VAR_014492
VAR_014492 disease not phenotype-associated
VAR_014493 commonName VAR_014493
VAR_014493 disease not phenotype-associated
VAR_014494 commonName VAR_014494
VAR_014494 disease not phenotype-associated
VAR_014495 commonName VAR_014495
VAR_014495 disease not phenotype-associated
VAR_014496 commonName VAR_014496
VAR_014496 disease not phenotype-associated
VAR_014497 commonName VAR_014497
VAR_014497 disease not phenotype-associated
VAR_014499 commonName VAR_014499
VAR_014499 disease not phenotype-associated
VAR_014500 commonName VAR_014500
VAR_014500 disease not phenotype-associated
VAR_014501 commonName VAR_014501
VAR_014501 disease not phenotype-associated
VAR_014505 commonName VAR_014505
VAR_014505 disease not phenotype-associated
VAR_014506 commonName VAR_014506
VAR_014506 disease not phenotype-associated
VAR_014507 commonName VAR_014507
VAR_014507 disease not phenotype-associated
VAR_014508 commonName VAR_014508
VAR_014508 disease not phenotype-associated
VAR_014509 commonName VAR_014509
VAR_014509 disease not phenotype-associated
VAR_014510 commonName VAR_014510
VAR_014510 disease not phenotype-associated
VAR_014511 commonName VAR_014511
VAR_014511 disease not phenotype-associated
VAR_014512 commonName VAR_014512
VAR_014512 disease not phenotype-associated
VAR_014513 commonName VAR_014513
VAR_014513 disease not phenotype-associated
VAR_014514 commonName VAR_014514
VAR_014514 disease not phenotype-associated
VAR_014515 commonName VAR_014515
VAR_014515 disease not phenotype-associated
VAR_014516 commonName VAR_014516
VAR_014516 disease not phenotype-associated
VAR_014517 commonName VAR_014517
VAR_014517 disease not phenotype-associated
VAR_014518 commonName VAR_014518
VAR_014518 disease not phenotype-associated
VAR_014519 commonName VAR_014519
VAR_014519 disease not phenotype-associated
VAR_014520 commonName VAR_014520
VAR_014520 disease not phenotype-associated
VAR_014521 commonName VAR_014521
VAR_014521 disease not phenotype-associated
VAR_014523 commonName VAR_014523
VAR_014523 disease not phenotype-associated
VAR_014524 commonName VAR_014524
VAR_014524 disease not phenotype-associated
VAR_014525 commonName VAR_014525
VAR_014525 disease not phenotype-associated
VAR_014526 commonName VAR_014526
VAR_014526 disease not phenotype-associated
VAR_014527 commonName VAR_014527
VAR_014527 disease not phenotype-associated
VAR_014528 commonName VAR_014528
VAR_014528 disease not phenotype-associated
VAR_014529 commonName VAR_014529
VAR_014529 disease not phenotype-associated
VAR_014530 commonName VAR_014530
VAR_014530 disease not phenotype-associated
VAR_014531 commonName VAR_014531
VAR_014531 disease not phenotype-associated
VAR_014532 commonName VAR_014532
VAR_014532 disease not phenotype-associated
VAR_014533 commonName VAR_014533
VAR_014533 disease not phenotype-associated
VAR_014534 commonName VAR_014534
VAR_014534 disease not phenotype-associated
VAR_014535 commonName VAR_014535
VAR_014535 disease not phenotype-associated
VAR_014536 commonName VAR_014536
VAR_014536 disease not phenotype-associated
VAR_014537 commonName VAR_014537
VAR_014537 disease not phenotype-associated
VAR_014538 commonName VAR_014538
VAR_014538 disease not phenotype-associated
VAR_014539 commonName VAR_014539
VAR_014539 disease not phenotype-associated
VAR_014540 commonName VAR_014540
VAR_014540 disease not phenotype-associated
VAR_014541 commonName VAR_014541
VAR_014541 disease not phenotype-associated
VAR_014542 commonName VAR_014542
VAR_014542 disease not phenotype-associated
VAR_014543 commonName VAR_014543
VAR_014543 disease not phenotype-associated
VAR_014544 commonName VAR_014544
VAR_014544 disease not phenotype-associated
VAR_014545 commonName VAR_014545
VAR_014545 disease not phenotype-associated
VAR_014546 commonName VAR_014546
VAR_014546 disease not phenotype-associated
VAR_014547 commonName VAR_014547
VAR_014547 disease not phenotype-associated
VAR_014548 commonName VAR_014548
VAR_014548 disease not phenotype-associated
VAR_014554 commonName VAR_014554
VAR_014554 disease not phenotype-associated
VAR_014555 commonName VAR_014555
VAR_014555 disease not phenotype-associated
VAR_014556 commonName VAR_014556
VAR_014556 disease not phenotype-associated
VAR_014557 commonName VAR_014557
VAR_014557 disease not phenotype-associated
VAR_014558 commonName VAR_014558
VAR_014558 disease not phenotype-associated
VAR_014559 commonName VAR_014559
VAR_014559 disease not phenotype-associated
VAR_014560 commonName VAR_014560
VAR_014560 disease not phenotype-associated
VAR_014561 commonName VAR_014561
VAR_014561 disease not phenotype-associated
VAR_014562 commonName VAR_014562
VAR_014562 disease not phenotype-associated
VAR_014563 commonName VAR_014563
VAR_014563 disease not phenotype-associated
VAR_014564 commonName VAR_014564
VAR_014564 disease not phenotype-associated
VAR_014565 commonName VAR_014565
VAR_014565 disease not phenotype-associated
VAR_014566 commonName VAR_014566
VAR_014566 disease not phenotype-associated
VAR_014567 commonName VAR_014567
VAR_014567 disease not phenotype-associated
VAR_014568 commonName VAR_014568
VAR_014568 disease not phenotype-associated
VAR_014569 commonName VAR_014569
VAR_014569 disease not phenotype-associated
VAR_014570 commonName VAR_014570
VAR_014570 disease not phenotype-associated
VAR_014571 commonName VAR_014571
VAR_014571 disease not phenotype-associated
VAR_014573 commonName VAR_014573
VAR_014573 disease not phenotype-associated
VAR_014574 commonName VAR_014574
VAR_014574 disease not phenotype-associated
VAR_014578 commonName VAR_014578
VAR_014578 disease not phenotype-associated
VAR_014579 commonName VAR_014579
VAR_014579 disease not phenotype-associated
VAR_014580 commonName VAR_014580
VAR_014580 disease not phenotype-associated
VAR_014581 commonName VAR_014581
VAR_014581 disease not phenotype-associated
VAR_014582 commonName VAR_014582
VAR_014582 disease not phenotype-associated
VAR_014583 commonName VAR_014583
VAR_014583 disease not phenotype-associated
VAR_014584 commonName VAR_014584
VAR_014584 disease not phenotype-associated
VAR_014585 commonName VAR_014585
VAR_014585 disease not phenotype-associated
VAR_014586 commonName VAR_014586
VAR_014586 disease not phenotype-associated
VAR_014587 commonName VAR_014587
VAR_014587 disease not phenotype-associated
VAR_014588 commonName VAR_014588
VAR_014588 disease not phenotype-associated
VAR_014589 commonName VAR_014589
VAR_014589 disease not phenotype-associated
VAR_014590 commonName VAR_014590
VAR_014590 disease not phenotype-associated
VAR_014591 commonName VAR_014591
VAR_014591 disease not phenotype-associated
VAR_014592 commonName VAR_014592
VAR_014592 disease not phenotype-associated
VAR_014593 commonName VAR_014593
VAR_014593 disease not phenotype-associated
VAR_014594 commonName VAR_014594
VAR_014594 disease not phenotype-associated
VAR_014595 commonName VAR_014595
VAR_014595 disease not phenotype-associated
VAR_014596 commonName VAR_014596
VAR_014596 disease not phenotype-associated
VAR_014597 commonName VAR_014597
VAR_014597 disease not phenotype-associated
VAR_014598 commonName VAR_014598
VAR_014598 disease not phenotype-associated
VAR_014599 commonName VAR_014599
VAR_014599 disease not phenotype-associated
VAR_014600 commonName VAR_014600
VAR_014600 disease not phenotype-associated
VAR_014601 commonName VAR_014601
VAR_014601 disease not phenotype-associated
VAR_014605 commonName VAR_014605
VAR_014605 disease not phenotype-associated
VAR_014606 commonName VAR_014606
VAR_014606 disease not phenotype-associated
VAR_014607 commonName VAR_014607
VAR_014607 disease not phenotype-associated
VAR_014608 commonName VAR_014608
VAR_014608 disease not phenotype-associated
VAR_014609 commonName VAR_014609
VAR_014609 disease not phenotype-associated
VAR_014610 commonName VAR_014610
VAR_014610 disease not phenotype-associated
VAR_014611 commonName VAR_014611
VAR_014611 disease not phenotype-associated
VAR_014612 commonName VAR_014612
VAR_014612 disease not phenotype-associated
VAR_014613 commonName VAR_014613
VAR_014613 disease not phenotype-associated
VAR_014614 commonName VAR_014614
VAR_014614 disease not phenotype-associated
VAR_014620 commonName VAR_014620
VAR_014620 disease not phenotype-associated
VAR_014621 commonName VAR_014621
VAR_014621 disease not phenotype-associated
VAR_014622 commonName VAR_014622
VAR_014622 disease not phenotype-associated
VAR_014627 commonName VAR_014627
VAR_014627 disease not phenotype-associated
VAR_014628 commonName VAR_014628
VAR_014628 disease not phenotype-associated
VAR_014629 commonName VAR_014629
VAR_014629 disease not phenotype-associated
VAR_014630 commonName VAR_014630
VAR_014630 disease not phenotype-associated
VAR_014632 commonName VAR_014632
VAR_014632 disease not phenotype-associated
VAR_014634 commonName VAR_014634
VAR_014634 disease not phenotype-associated
VAR_014635 commonName VAR_014635
VAR_014635 disease not phenotype-associated
VAR_014636 commonName VAR_014636
VAR_014636 disease not phenotype-associated
VAR_014638 commonName VAR_014638
VAR_014638 disease not phenotype-associated
VAR_014639 commonName VAR_014639
VAR_014639 disease not phenotype-associated
VAR_014640 commonName VAR_014640
VAR_014640 disease not phenotype-associated
VAR_014641 commonName VAR_014641
VAR_014641 disease not phenotype-associated
VAR_014642 commonName VAR_014642
VAR_014642 disease not phenotype-associated
VAR_014643 commonName VAR_014643
VAR_014643 disease not phenotype-associated
VAR_014644 commonName VAR_014644
VAR_014644 disease not phenotype-associated
VAR_014645 commonName VAR_014645
VAR_014645 disease not phenotype-associated
VAR_014646 commonName VAR_014646
VAR_014646 disease not phenotype-associated
VAR_014647 commonName VAR_014647
VAR_014647 disease not phenotype-associated
VAR_014648 commonName VAR_014648
VAR_014648 disease not phenotype-associated
VAR_014649 commonName VAR_014649
VAR_014649 disease not phenotype-associated
VAR_014651 commonName VAR_014651
VAR_014651 disease not phenotype-associated
VAR_014652 commonName VAR_014652
VAR_014652 disease not phenotype-associated
VAR_014653 commonName VAR_014653
VAR_014653 disease not phenotype-associated
VAR_014654 commonName VAR_014654
VAR_014654 disease not phenotype-associated
VAR_014655 commonName VAR_014655
VAR_014655 disease not phenotype-associated
VAR_014656 commonName VAR_014656
VAR_014656 disease not phenotype-associated
VAR_014657 commonName VAR_014657
VAR_014657 disease not phenotype-associated
VAR_014658 commonName VAR_014658
VAR_014658 disease not phenotype-associated
VAR_014659 commonName VAR_014659
VAR_014659 disease not phenotype-associated
VAR_014660 commonName VAR_014660
VAR_014660 disease not phenotype-associated
VAR_014661 commonName VAR_014661
VAR_014661 disease not phenotype-associated
VAR_014662 commonName VAR_014662
VAR_014662 disease not phenotype-associated
VAR_014664 commonName VAR_014664
VAR_014664 disease not phenotype-associated
VAR_014665 commonName VAR_014665
VAR_014665 disease not phenotype-associated
VAR_014666 commonName VAR_014666
VAR_014666 disease phenotype-associated
VAR_014666 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_014667 commonName VAR_014667
VAR_014667 disease not phenotype-associated
VAR_014668 commonName VAR_014668
VAR_014668 disease not phenotype-associated
VAR_014669 commonName VAR_014669
VAR_014669 disease not phenotype-associated
VAR_014670 commonName VAR_014670
VAR_014670 disease not phenotype-associated
VAR_014671 commonName VAR_014671
VAR_014671 disease not phenotype-associated
VAR_014672 commonName VAR_014672
VAR_014672 disease not phenotype-associated
VAR_014673 commonName VAR_014673
VAR_014673 disease not phenotype-associated
VAR_014675 commonName VAR_014675
VAR_014675 disease not phenotype-associated
VAR_014676 commonName VAR_014676
VAR_014676 disease not phenotype-associated
VAR_014677 commonName VAR_014677
VAR_014677 disease not phenotype-associated
VAR_014678 commonName VAR_014678
VAR_014678 disease not phenotype-associated
VAR_014679 commonName VAR_014679
VAR_014679 disease not phenotype-associated
VAR_014680 commonName VAR_014680
VAR_014680 disease not phenotype-associated
VAR_014681 commonName VAR_014681
VAR_014681 disease not phenotype-associated
VAR_014682 commonName VAR_014682
VAR_014682 disease not phenotype-associated
VAR_014683 commonName VAR_014683
VAR_014683 disease not phenotype-associated
VAR_014684 commonName VAR_014684
VAR_014684 disease not phenotype-associated
VAR_014685 commonName VAR_014685
VAR_014685 disease not phenotype-associated
VAR_014686 commonName VAR_014686
VAR_014686 disease not phenotype-associated
VAR_014687 commonName VAR_014687
VAR_014687 disease not phenotype-associated
VAR_014688 commonName VAR_014688
VAR_014688 disease not phenotype-associated
VAR_014689 commonName VAR_014689
VAR_014689 disease not phenotype-associated
VAR_014690 commonName VAR_014690
VAR_014690 disease not phenotype-associated
VAR_014691 commonName VAR_014691
VAR_014691 disease not phenotype-associated
VAR_014692 commonName VAR_014692
VAR_014692 disease not phenotype-associated
VAR_014693 commonName VAR_014693
VAR_014693 disease not phenotype-associated
VAR_014694 commonName VAR_014694
VAR_014694 disease not phenotype-associated
VAR_014695 commonName VAR_014695
VAR_014695 disease not phenotype-associated
VAR_014696 commonName VAR_014696
VAR_014696 disease not phenotype-associated
VAR_014697 commonName VAR_014697
VAR_014697 disease not phenotype-associated
VAR_014698 commonName VAR_014698
VAR_014698 disease not phenotype-associated
VAR_014699 commonName VAR_014699
VAR_014699 disease not phenotype-associated
VAR_014700 commonName VAR_014700
VAR_014700 disease not phenotype-associated
VAR_014701 commonName VAR_014701
VAR_014701 disease not phenotype-associated
VAR_014702 commonName VAR_014702
VAR_014702 disease not phenotype-associated
VAR_014703 commonName VAR_014703
VAR_014703 disease not phenotype-associated
VAR_014704 commonName VAR_014704
VAR_014704 disease not phenotype-associated
VAR_014705 commonName VAR_014705
VAR_014705 disease not phenotype-associated
VAR_014706 commonName VAR_014706
VAR_014706 disease not phenotype-associated
VAR_014707 commonName VAR_014707
VAR_014707 disease not phenotype-associated
VAR_014708 commonName VAR_014708
VAR_014708 disease not phenotype-associated
VAR_014709 commonName VAR_014709
VAR_014709 disease not phenotype-associated
VAR_014710 commonName VAR_014710
VAR_014710 disease not phenotype-associated
VAR_014711 commonName VAR_014711
VAR_014711 disease not phenotype-associated
VAR_014712 commonName VAR_014712
VAR_014712 disease not phenotype-associated
VAR_014713 commonName VAR_014713
VAR_014713 disease not phenotype-associated
VAR_014714 commonName VAR_014714
VAR_014714 disease not phenotype-associated
VAR_014715 commonName VAR_014715
VAR_014715 disease not phenotype-associated
VAR_014716 commonName VAR_014716
VAR_014716 disease not phenotype-associated
VAR_014717 commonName VAR_014717
VAR_014717 disease not phenotype-associated
VAR_014718 commonName VAR_014718
VAR_014718 disease not phenotype-associated
VAR_014719 commonName VAR_014719
VAR_014719 disease not phenotype-associated
VAR_014721 commonName VAR_014721
VAR_014721 disease not phenotype-associated
VAR_014722 commonName VAR_014722
VAR_014722 disease not phenotype-associated
VAR_014723 commonName VAR_014723
VAR_014723 disease not phenotype-associated
VAR_014724 commonName VAR_014724
VAR_014724 disease not phenotype-associated
VAR_014725 commonName VAR_014725
VAR_014725 disease not phenotype-associated
VAR_014726 commonName VAR_014726
VAR_014726 disease not phenotype-associated
VAR_014727 commonName VAR_014727
VAR_014727 disease not phenotype-associated
VAR_014728 commonName VAR_014728
VAR_014728 disease not phenotype-associated
VAR_014729 commonName VAR_014729
VAR_014729 disease not phenotype-associated
VAR_014730 commonName VAR_014730
VAR_014730 disease not phenotype-associated
VAR_014731 commonName VAR_014731
VAR_014731 disease not phenotype-associated
VAR_014732 commonName VAR_014732
VAR_014732 disease not phenotype-associated
VAR_014733 commonName VAR_014733
VAR_014733 disease not phenotype-associated
VAR_014734 commonName VAR_014734
VAR_014734 disease not phenotype-associated
VAR_014735 commonName VAR_014735
VAR_014735 disease not phenotype-associated
VAR_014736 commonName VAR_014736
VAR_014736 disease not phenotype-associated
VAR_014737 commonName VAR_014737
VAR_014737 disease not phenotype-associated
VAR_014742 commonName VAR_014742
VAR_014742 disease not phenotype-associated
VAR_014743 commonName VAR_014743
VAR_014743 disease not phenotype-associated
VAR_014744 commonName VAR_014744
VAR_014744 disease not phenotype-associated
VAR_014745 commonName VAR_014745
VAR_014745 disease not phenotype-associated
VAR_014746 commonName VAR_014746
VAR_014746 disease not phenotype-associated
VAR_014747 commonName VAR_014747
VAR_014747 disease not phenotype-associated
VAR_014748 commonName VAR_014748
VAR_014748 disease not phenotype-associated
VAR_014749 commonName VAR_014749
VAR_014749 disease not phenotype-associated
VAR_014756 commonName VAR_014756
VAR_014756 disease not phenotype-associated
VAR_014757 commonName VAR_014757
VAR_014757 disease not phenotype-associated
VAR_014760 commonName VAR_014760
VAR_014760 disease not phenotype-associated
VAR_014764 commonName VAR_014764
VAR_014764 disease not phenotype-associated
VAR_014765 commonName VAR_014765
VAR_014765 disease not phenotype-associated
VAR_014766 commonName VAR_014766
VAR_014766 disease not phenotype-associated
VAR_014767 commonName VAR_014767
VAR_014767 disease not phenotype-associated
VAR_014769 commonName VAR_014769
VAR_014769 disease not phenotype-associated
VAR_014783 commonName VAR_014783
VAR_014783 disease not phenotype-associated
VAR_014784 commonName VAR_014784
VAR_014784 disease not phenotype-associated
VAR_014785 commonName VAR_014785
VAR_014785 disease not phenotype-associated
VAR_014786 commonName VAR_014786
VAR_014786 disease not phenotype-associated
VAR_014787 commonName VAR_014787
VAR_014787 disease not phenotype-associated
VAR_014791 commonName VAR_014791
VAR_014791 disease not phenotype-associated
VAR_014793 commonName VAR_014793
VAR_014793 disease not phenotype-associated
VAR_014794 commonName VAR_014794
VAR_014794 disease not phenotype-associated
VAR_014795 commonName VAR_014795
VAR_014795 disease not phenotype-associated
VAR_014797 commonName VAR_014797
VAR_014797 disease not phenotype-associated
VAR_014798 commonName VAR_014798
VAR_014798 disease not phenotype-associated
VAR_014799 commonName VAR_014799
VAR_014799 disease not phenotype-associated
VAR_014800 commonName VAR_014800
VAR_014800 disease not phenotype-associated
VAR_014801 commonName VAR_014801
VAR_014801 disease not phenotype-associated
VAR_014802 commonName VAR_014802
VAR_014802 disease not phenotype-associated
VAR_014803 commonName VAR_014803
VAR_014803 disease not phenotype-associated
VAR_014804 commonName VAR_014804
VAR_014804 disease not phenotype-associated
VAR_014805 commonName VAR_014805
VAR_014805 disease not phenotype-associated
VAR_014806 commonName VAR_014806
VAR_014806 disease not phenotype-associated
VAR_014807 commonName VAR_014807
VAR_014807 disease not phenotype-associated
VAR_014808 commonName VAR_014808
VAR_014808 disease not phenotype-associated
VAR_014810 commonName VAR_014810
VAR_014810 disease not phenotype-associated
VAR_014811 commonName VAR_014811
VAR_014811 disease not phenotype-associated
VAR_014812 commonName VAR_014812
VAR_014812 disease not phenotype-associated
VAR_014813 commonName VAR_014813
VAR_014813 disease not phenotype-associated
VAR_014814 commonName VAR_014814
VAR_014814 disease not phenotype-associated
VAR_014815 commonName VAR_014815
VAR_014815 disease not phenotype-associated
VAR_014816 commonName VAR_014816
VAR_014816 disease not phenotype-associated
VAR_014817 commonName VAR_014817
VAR_014817 disease not phenotype-associated
VAR_014818 commonName VAR_014818
VAR_014818 disease not phenotype-associated
VAR_014819 commonName VAR_014819
VAR_014819 disease not phenotype-associated
VAR_014820 commonName VAR_014820
VAR_014820 disease not phenotype-associated
VAR_014821 commonName VAR_014821
VAR_014821 disease not phenotype-associated
VAR_014822 commonName VAR_014822
VAR_014822 disease not phenotype-associated
VAR_014823 commonName VAR_014823
VAR_014823 disease not phenotype-associated
VAR_014824 commonName VAR_014824
VAR_014824 disease not phenotype-associated
VAR_014826 commonName VAR_014826
VAR_014826 disease not phenotype-associated
VAR_014827 commonName VAR_014827
VAR_014827 disease not phenotype-associated
VAR_014828 commonName VAR_014828
VAR_014828 disease not phenotype-associated
VAR_014829 commonName VAR_014829
VAR_014829 disease not phenotype-associated
VAR_014830 commonName VAR_014830
VAR_014830 disease not phenotype-associated
VAR_014831 commonName VAR_014831
VAR_014831 disease not phenotype-associated
VAR_014832 commonName VAR_014832
VAR_014832 disease not phenotype-associated
VAR_014833 commonName VAR_014833
VAR_014833 disease not phenotype-associated
VAR_014834 commonName VAR_014834
VAR_014834 disease not phenotype-associated
VAR_014837 commonName VAR_014837
VAR_014837 disease not phenotype-associated
VAR_014838 commonName VAR_014838
VAR_014838 disease not phenotype-associated
VAR_014840 commonName VAR_014840
VAR_014840 disease not phenotype-associated
VAR_014841 commonName VAR_014841
VAR_014841 disease not phenotype-associated
VAR_014842 commonName VAR_014842
VAR_014842 disease not phenotype-associated
VAR_014843 commonName VAR_014843
VAR_014843 disease not phenotype-associated
VAR_014845 commonName VAR_014845
VAR_014845 disease not phenotype-associated
VAR_014846 commonName VAR_014846
VAR_014846 disease not phenotype-associated
VAR_014848 commonName VAR_014848
VAR_014848 disease not phenotype-associated
VAR_014849 commonName VAR_014849
VAR_014849 disease not phenotype-associated
VAR_014850 commonName VAR_014850
VAR_014850 disease not phenotype-associated
VAR_014851 commonName VAR_014851
VAR_014851 disease not phenotype-associated
VAR_014852 commonName VAR_014852
VAR_014852 disease not phenotype-associated
VAR_014853 commonName VAR_014853
VAR_014853 disease not phenotype-associated
VAR_014854 commonName VAR_014854
VAR_014854 disease not phenotype-associated
VAR_014855 commonName VAR_014855
VAR_014855 disease not phenotype-associated
VAR_014856 commonName VAR_014856
VAR_014856 disease not phenotype-associated
VAR_014857 commonName VAR_014857
VAR_014857 disease not phenotype-associated
VAR_014860 commonName VAR_014860
VAR_014860 disease not phenotype-associated
VAR_014861 commonName VAR_014861
VAR_014861 disease not phenotype-associated
VAR_014862 commonName VAR_014862
VAR_014862 disease not phenotype-associated
VAR_014863 commonName VAR_014863
VAR_014863 disease not phenotype-associated
VAR_014864 commonName VAR_014864
VAR_014864 disease not phenotype-associated
VAR_014866 commonName VAR_014866
VAR_014866 disease not phenotype-associated
VAR_014867 commonName VAR_014867
VAR_014867 disease not phenotype-associated
VAR_014868 commonName VAR_014868
VAR_014868 disease not phenotype-associated
VAR_014869 commonName VAR_014869
VAR_014869 disease not phenotype-associated
VAR_014870 commonName VAR_014870
VAR_014870 disease not phenotype-associated
VAR_014871 commonName VAR_014871
VAR_014871 disease not phenotype-associated
VAR_014872 commonName VAR_014872
VAR_014872 disease not phenotype-associated
VAR_014873 commonName VAR_014873
VAR_014873 disease not phenotype-associated
VAR_014874 commonName VAR_014874
VAR_014874 disease not phenotype-associated
VAR_014875 commonName VAR_014875
VAR_014875 disease not phenotype-associated
VAR_014876 commonName VAR_014876
VAR_014876 disease not phenotype-associated
VAR_014877 commonName VAR_014877
VAR_014877 disease not phenotype-associated
VAR_014878 commonName VAR_014878
VAR_014878 disease not phenotype-associated
VAR_014879 commonName VAR_014879
VAR_014879 disease not phenotype-associated
VAR_014881 commonName VAR_014881
VAR_014881 disease not phenotype-associated
VAR_014882 commonName VAR_014882
VAR_014882 disease not phenotype-associated
VAR_014884 commonName VAR_014884
VAR_014884 disease not phenotype-associated
VAR_014885 commonName VAR_014885
VAR_014885 disease not phenotype-associated
VAR_014886 commonName VAR_014886
VAR_014886 disease not phenotype-associated
VAR_014887 commonName VAR_014887
VAR_014887 disease not phenotype-associated
VAR_014888 commonName VAR_014888
VAR_014888 disease not phenotype-associated
VAR_014889 commonName VAR_014889
VAR_014889 disease not phenotype-associated
VAR_014890 commonName VAR_014890
VAR_014890 disease not phenotype-associated
VAR_014891 commonName VAR_014891
VAR_014891 disease not phenotype-associated
VAR_014892 commonName VAR_014892
VAR_014892 disease not phenotype-associated
VAR_014893 commonName VAR_014893
VAR_014893 disease not phenotype-associated
VAR_014894 commonName VAR_014894
VAR_014894 disease not phenotype-associated
VAR_014895 commonName VAR_014895
VAR_014895 disease not phenotype-associated
VAR_014896 commonName VAR_014896
VAR_014896 disease not phenotype-associated
VAR_014897 commonName VAR_014897
VAR_014897 disease not phenotype-associated
VAR_014898 commonName VAR_014898
VAR_014898 disease not phenotype-associated
VAR_014899 commonName VAR_014899
VAR_014899 disease not phenotype-associated
VAR_014900 commonName VAR_014900
VAR_014900 disease not phenotype-associated
VAR_014901 commonName VAR_014901
VAR_014901 disease not phenotype-associated
VAR_014902 commonName VAR_014902
VAR_014902 disease not phenotype-associated
VAR_014903 commonName VAR_014903
VAR_014903 disease not phenotype-associated
VAR_014904 commonName VAR_014904
VAR_014904 disease not phenotype-associated
VAR_014905 commonName VAR_014905
VAR_014905 disease not phenotype-associated
VAR_014906 commonName VAR_014906
VAR_014906 disease not phenotype-associated
VAR_014907 commonName VAR_014907
VAR_014907 disease not phenotype-associated
VAR_014908 commonName VAR_014908
VAR_014908 disease not phenotype-associated
VAR_014909 commonName VAR_014909
VAR_014909 disease not phenotype-associated
VAR_014910 commonName VAR_014910
VAR_014910 disease phenotype-associated
VAR_014910 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_014911 commonName VAR_014911
VAR_014911 disease not phenotype-associated
VAR_014912 commonName VAR_014912
VAR_014912 disease not phenotype-associated
VAR_014913 commonName VAR_014913
VAR_014913 disease not phenotype-associated
VAR_014915 commonName VAR_014915
VAR_014915 disease not phenotype-associated
VAR_014916 commonName VAR_014916
VAR_014916 disease not phenotype-associated
VAR_014917 commonName VAR_014917
VAR_014917 disease not phenotype-associated
VAR_014918 commonName VAR_014918
VAR_014918 disease not phenotype-associated
VAR_014919 commonName VAR_014919
VAR_014919 disease not phenotype-associated
VAR_014920 commonName VAR_014920
VAR_014920 disease not phenotype-associated
VAR_014922 commonName VAR_014922
VAR_014922 disease not phenotype-associated
VAR_014924 commonName VAR_014924
VAR_014924 disease not phenotype-associated
VAR_014925 commonName VAR_014925
VAR_014925 disease not phenotype-associated
VAR_014926 commonName VAR_014926
VAR_014926 disease not phenotype-associated
VAR_014927 commonName VAR_014927
VAR_014927 disease not phenotype-associated
VAR_014930 commonName VAR_014930
VAR_014930 disease not phenotype-associated
VAR_014931 commonName VAR_014931
VAR_014931 disease not phenotype-associated
VAR_014934 commonName VAR_014934
VAR_014934 disease not phenotype-associated
VAR_014936 commonName VAR_014936
VAR_014936 disease not phenotype-associated
VAR_014937 commonName VAR_014937
VAR_014937 disease not phenotype-associated
VAR_014938 commonName VAR_014938
VAR_014938 disease not phenotype-associated
VAR_014942 commonName VAR_014942
VAR_014942 disease not phenotype-associated
VAR_014943 commonName VAR_014943
VAR_014943 disease phenotype-associated
VAR_014943 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_014944 commonName VAR_014944
VAR_014944 disease not phenotype-associated
VAR_014945 commonName VAR_014945
VAR_014945 disease not phenotype-associated
VAR_014946 commonName VAR_014946
VAR_014946 disease not phenotype-associated
VAR_014947 commonName VAR_014947
VAR_014947 disease not phenotype-associated
VAR_014950 commonName VAR_014950
VAR_014950 disease not phenotype-associated
VAR_014951 commonName VAR_014951
VAR_014951 disease not phenotype-associated
VAR_014952 commonName VAR_014952
VAR_014952 disease not phenotype-associated
VAR_014953 commonName VAR_014953
VAR_014953 disease not phenotype-associated
VAR_014954 commonName VAR_014954
VAR_014954 disease not phenotype-associated
VAR_014956 commonName VAR_014956
VAR_014956 disease not phenotype-associated
VAR_014957 commonName VAR_014957
VAR_014957 disease not phenotype-associated
VAR_014959 commonName VAR_014959
VAR_014959 disease not phenotype-associated
VAR_014960 commonName VAR_014960
VAR_014960 disease not phenotype-associated
VAR_014961 commonName VAR_014961
VAR_014961 disease phenotype-associated
VAR_014961 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014962 commonName VAR_014962
VAR_014962 disease phenotype-associated
VAR_014962 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014963 commonName VAR_014963
VAR_014963 disease phenotype-associated
VAR_014963 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014964 commonName VAR_014964
VAR_014964 disease phenotype-associated
VAR_014964 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014965 commonName VAR_014965
VAR_014965 disease phenotype-associated
VAR_014965 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014966 commonName VAR_014966
VAR_014966 disease phenotype-associated
VAR_014966 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014967 commonName VAR_014967
VAR_014967 disease phenotype-associated
VAR_014967 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014968 commonName VAR_014968
VAR_014968 disease phenotype-associated
VAR_014968 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014969 commonName VAR_014969
VAR_014969 disease phenotype-associated
VAR_014969 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014970 commonName VAR_014970
VAR_014970 disease phenotype-associated
VAR_014970 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014971 commonName VAR_014971
VAR_014971 disease phenotype-associated
VAR_014971 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014972 commonName VAR_014972
VAR_014972 disease phenotype-associated
VAR_014972 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014973 commonName VAR_014973
VAR_014973 disease phenotype-associated
VAR_014973 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014974 commonName VAR_014974
VAR_014974 disease phenotype-associated
VAR_014974 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_014975 commonName VAR_014975
VAR_014975 disease phenotype-associated
VAR_014975 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014976 commonName VAR_014976
VAR_014976 disease phenotype-associated
VAR_014976 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014977 commonName VAR_014977
VAR_014977 disease phenotype-associated
VAR_014977 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014978 commonName VAR_014978
VAR_014978 disease phenotype-associated
VAR_014978 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014979 commonName VAR_014979
VAR_014979 disease not phenotype-associated
VAR_014981 commonName VAR_014981
VAR_014981 disease phenotype-associated
VAR_014981 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014982 commonName VAR_014982
VAR_014982 disease phenotype-associated
VAR_014982 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014983 commonName VAR_014983
VAR_014983 disease phenotype-associated
VAR_014983 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014984 commonName VAR_014984
VAR_014984 disease phenotype-associated
VAR_014984 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014985 commonName VAR_014985
VAR_014985 disease phenotype-associated
VAR_014985 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014986 commonName VAR_014986
VAR_014986 disease phenotype-associated
VAR_014986 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014987 commonName VAR_014987
VAR_014987 disease phenotype-associated
VAR_014987 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014988 commonName VAR_014988
VAR_014988 disease phenotype-associated
VAR_014988 phenoCommon Non-syndromic orofacial cleft type 6 (OFC6) [MIM:608864]
VAR_014988 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_014992 commonName VAR_014992
VAR_014992 disease not phenotype-associated
VAR_014993 commonName VAR_014993
VAR_014993 disease not phenotype-associated
VAR_014994 commonName VAR_014994
VAR_014994 disease not phenotype-associated
VAR_014995 commonName VAR_014995
VAR_014995 disease not phenotype-associated
VAR_015001 commonName VAR_015001
VAR_015001 disease not phenotype-associated
VAR_015002 commonName VAR_015002
VAR_015002 disease not phenotype-associated
VAR_015003 commonName VAR_015003
VAR_015003 disease not phenotype-associated
VAR_015004 commonName VAR_015004
VAR_015004 disease not phenotype-associated
VAR_015005 commonName VAR_015005
VAR_015005 disease not phenotype-associated
VAR_015006 commonName VAR_015006
VAR_015006 disease not phenotype-associated
VAR_015007 commonName VAR_015007
VAR_015007 disease phenotype-associated
VAR_015007 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_015008 commonName VAR_015008
VAR_015008 disease phenotype-associated
VAR_015008 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_015009 commonName VAR_015009
VAR_015009 disease phenotype-associated
VAR_015009 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_015010 commonName VAR_015010
VAR_015010 disease phenotype-associated
VAR_015010 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_015011 commonName VAR_015011
VAR_015011 disease phenotype-associated
VAR_015011 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_015012 commonName VAR_015012
VAR_015012 disease not phenotype-associated
VAR_015014 commonName VAR_015014
VAR_015014 disease phenotype-associated
VAR_015014 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015015 commonName VAR_015015
VAR_015015 disease phenotype-associated
VAR_015015 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015016 commonName VAR_015016
VAR_015016 disease phenotype-associated
VAR_015016 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015017 commonName VAR_015017
VAR_015017 disease phenotype-associated
VAR_015017 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015018 commonName VAR_015018
VAR_015018 disease phenotype-associated
VAR_015018 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015019 commonName VAR_015019
VAR_015020 commonName VAR_015020
VAR_015020 disease phenotype-associated
VAR_015020 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015021 commonName VAR_015021
VAR_015021 disease phenotype-associated
VAR_015021 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015022 commonName VAR_015022
VAR_015022 disease phenotype-associated
VAR_015022 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015023 commonName VAR_015023
VAR_015023 disease phenotype-associated
VAR_015023 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015024 commonName VAR_015024
VAR_015024 disease phenotype-associated
VAR_015024 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]
VAR_015025 commonName VAR_015025
VAR_015026 commonName VAR_015026
VAR_015026 disease phenotype-associated
VAR_015026 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_015063 commonName VAR_015063
VAR_015063 disease phenotype-associated
VAR_015063 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_015064 commonName VAR_015064
VAR_015065 commonName VAR_015065
VAR_015066 commonName VAR_015066
VAR_015066 disease phenotype-associated
VAR_015066 phenoCommon Aniridia (AN) [MIM:106210]
VAR_015068 commonName VAR_015068
VAR_015068 disease not phenotype-associated
VAR_015069 commonName VAR_015069
VAR_015069 disease not phenotype-associated
VAR_015070 commonName VAR_015070
VAR_015070 disease not phenotype-associated
VAR_015071 commonName VAR_015071
VAR_015071 disease not phenotype-associated
VAR_015072 commonName VAR_015072
VAR_015072 disease not phenotype-associated
VAR_015073 commonName VAR_015073
VAR_015073 disease not phenotype-associated
VAR_015074 commonName VAR_015074
VAR_015074 disease not phenotype-associated
VAR_015075 commonName VAR_015075
VAR_015076 commonName VAR_015076
VAR_015076 disease not phenotype-associated
VAR_015077 commonName VAR_015077
VAR_015078 commonName VAR_015078
VAR_015078 disease not phenotype-associated
VAR_015079 commonName VAR_015079
VAR_015079 disease not phenotype-associated
VAR_015080 commonName VAR_015080
VAR_015080 disease not phenotype-associated
VAR_015081 commonName VAR_015081
VAR_015081 disease not phenotype-associated
VAR_015082 commonName VAR_015082
VAR_015082 disease not phenotype-associated
VAR_015083 commonName VAR_015083
VAR_015083 disease not phenotype-associated
VAR_015084 commonName VAR_015084
VAR_015084 disease not phenotype-associated
VAR_015085 commonName VAR_015085
VAR_015085 disease phenotype-associated
VAR_015085 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_015086 commonName VAR_015086
VAR_015086 disease phenotype-associated
VAR_015086 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200]
VAR_015087 commonName VAR_015087
VAR_015087 disease phenotype-associated
VAR_015087 phenoCommon Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644]
VAR_015088 commonName VAR_015088
VAR_015088 disease not phenotype-associated
VAR_015089 commonName VAR_015089
VAR_015090 commonName VAR_015090
VAR_015091 commonName VAR_015091
VAR_015092 commonName VAR_015092
VAR_015092 disease not phenotype-associated
VAR_015093 commonName VAR_015093
VAR_015093 disease not phenotype-associated
VAR_015094 commonName VAR_015094
VAR_015094 disease not phenotype-associated
VAR_015095 commonName VAR_015095
VAR_015095 disease phenotype-associated
VAR_015095 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_015096 commonName VAR_015096
VAR_015096 disease phenotype-associated
VAR_015096 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_015097 commonName VAR_015097
VAR_015097 disease not phenotype-associated
VAR_015098 commonName VAR_015098
VAR_015098 disease not phenotype-associated
VAR_015099 commonName VAR_015099
VAR_015099 disease phenotype-associated
VAR_015099 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
VAR_015100 commonName VAR_015100
VAR_015100 disease phenotype-associated
VAR_015100 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
VAR_015103 comment Breast cancer
VAR_015103 commonName VAR_015103
VAR_015110 commonName VAR_015110
VAR_015110 disease not phenotype-associated
VAR_015111 commonName VAR_015111
VAR_015111 disease phenotype-associated
VAR_015111 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]
VAR_015112 commonName VAR_015112
VAR_015112 disease not phenotype-associated
VAR_015113 commonName VAR_015113
VAR_015113 disease not phenotype-associated
VAR_015114 commonName VAR_015114
VAR_015114 disease not phenotype-associated
VAR_015115 commonName VAR_015115
VAR_015115 disease not phenotype-associated
VAR_015117 commonName VAR_015117
VAR_015117 disease not phenotype-associated
VAR_015118 commonName VAR_015118
VAR_015118 disease not phenotype-associated
VAR_015119 commonName VAR_015119
VAR_015119 disease not phenotype-associated
VAR_015120 commonName VAR_015120
VAR_015121 commonName VAR_015121
VAR_015122 commonName VAR_015122
VAR_015123 commonName VAR_015123
VAR_015124 commonName VAR_015124
VAR_015125 commonName VAR_015125
VAR_015126 commonName VAR_015126
VAR_015127 commonName VAR_015127
VAR_015127 disease phenotype-associated
VAR_015127 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015128 commonName VAR_015128
VAR_015128 disease phenotype-associated
VAR_015128 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015129 commonName VAR_015129
VAR_015129 disease phenotype-associated
VAR_015129 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015130 commonName VAR_015130
VAR_015130 disease phenotype-associated
VAR_015130 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015131 commonName VAR_015131
VAR_015131 disease phenotype-associated
VAR_015131 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015132 commonName VAR_015132
VAR_015132 disease phenotype-associated
VAR_015132 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015133 commonName VAR_015133
VAR_015133 disease phenotype-associated
VAR_015133 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015134 commonName VAR_015134
VAR_015134 disease phenotype-associated
VAR_015134 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_015135 commonName VAR_015135
VAR_015135 disease phenotype-associated
VAR_015135 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015136 commonName VAR_015136
VAR_015136 disease phenotype-associated
VAR_015136 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015137 commonName VAR_015137
VAR_015137 disease phenotype-associated
VAR_015137 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015138 commonName VAR_015138
VAR_015138 disease phenotype-associated
VAR_015138 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015139 commonName VAR_015139
VAR_015139 disease phenotype-associated
VAR_015139 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015140 commonName VAR_015140
VAR_015140 disease phenotype-associated
VAR_015140 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015141 commonName VAR_015141
VAR_015141 disease phenotype-associated
VAR_015141 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015142 commonName VAR_015142
VAR_015142 disease phenotype-associated
VAR_015142 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015143 commonName VAR_015143
VAR_015143 disease phenotype-associated
VAR_015143 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015144 commonName VAR_015144
VAR_015144 disease phenotype-associated
VAR_015144 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_015145 commonName VAR_015145
VAR_015145 disease not phenotype-associated
VAR_015146 commonName VAR_015146
VAR_015146 disease not phenotype-associated
VAR_015147 commonName VAR_015147
VAR_015147 disease not phenotype-associated
VAR_015152 commonName VAR_015152
VAR_015152 disease not phenotype-associated
VAR_015153 commonName VAR_015153
VAR_015153 disease not phenotype-associated
VAR_015154 commonName VAR_015154
VAR_015154 disease phenotype-associated
VAR_015154 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015155 commonName VAR_015155
VAR_015155 disease phenotype-associated
VAR_015155 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015156 commonName VAR_015156
VAR_015156 disease phenotype-associated
VAR_015156 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015157 commonName VAR_015157
VAR_015157 disease phenotype-associated
VAR_015157 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015158 commonName VAR_015158
VAR_015158 disease phenotype-associated
VAR_015158 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015159 commonName VAR_015159
VAR_015159 disease phenotype-associated
VAR_015159 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015160 commonName VAR_015160
VAR_015160 disease phenotype-associated
VAR_015160 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015161 commonName VAR_015161
VAR_015161 disease phenotype-associated
VAR_015161 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015162 commonName VAR_015162
VAR_015162 disease phenotype-associated
VAR_015162 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015163 commonName VAR_015163
VAR_015163 disease phenotype-associated
VAR_015163 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015164 commonName VAR_015164
VAR_015164 disease phenotype-associated
VAR_015164 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015165 commonName VAR_015165
VAR_015165 disease phenotype-associated
VAR_015165 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015166 commonName VAR_015166
VAR_015166 disease phenotype-associated
VAR_015166 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015167 commonName VAR_015167
VAR_015167 disease phenotype-associated
VAR_015167 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015168 commonName VAR_015168
VAR_015168 disease phenotype-associated
VAR_015168 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015169 commonName VAR_015169
VAR_015169 disease phenotype-associated
VAR_015169 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_015170 commonName VAR_015170
VAR_015170 disease not phenotype-associated
VAR_015172 commonName VAR_015172
VAR_015172 disease phenotype-associated
VAR_015172 phenoCommon Bothnia retinal dystrophy (BRD) [MIM:607475]
VAR_015173 commonName VAR_015173
VAR_015173 disease phenotype-associated
VAR_015173 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_015174 commonName VAR_015174
VAR_015174 disease phenotype-associated
VAR_015174 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_015175 commonName VAR_015175
VAR_015175 disease phenotype-associated
VAR_015175 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_015176 commonName VAR_015176
VAR_015176 disease phenotype-associated
VAR_015176 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_015178 commonName VAR_015178
VAR_015178 disease phenotype-associated
VAR_015178 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
VAR_015179 commonName VAR_015179
VAR_015179 disease phenotype-associated
VAR_015179 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
VAR_015180 commonName VAR_015180
VAR_015180 disease phenotype-associated
VAR_015180 phenoCommon Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]
VAR_015181 commonName VAR_015181
VAR_015181 disease phenotype-associated
VAR_015181 phenoCommon Premature ovarian failure type 3 (POF3) [MIM:608996]
VAR_015182 commonName VAR_015182
VAR_015182 disease not phenotype-associated
VAR_015183 commonName VAR_015183
VAR_015183 disease not phenotype-associated
VAR_015185 commonName VAR_015185
VAR_015185 disease not phenotype-associated
VAR_015186 commonName VAR_015186
VAR_015186 disease phenotype-associated
VAR_015186 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_015187 commonName VAR_015187
VAR_015187 disease not phenotype-associated
VAR_015188 commonName VAR_015188
VAR_015188 disease phenotype-associated
VAR_015188 phenoCommon Benign hereditary chorea (BHC) [MIM:118700]
VAR_015189 commonName VAR_015189
VAR_015189 disease phenotype-associated
VAR_015189 phenoCommon Benign hereditary chorea (BHC) [MIM:118700]
VAR_015190 commonName VAR_015190
VAR_015190 disease phenotype-associated
VAR_015190 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015191 commonName VAR_015191
VAR_015191 disease phenotype-associated
VAR_015191 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015192 commonName VAR_015192
VAR_015192 disease phenotype-associated
VAR_015192 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015193 commonName VAR_015193
VAR_015193 disease phenotype-associated
VAR_015193 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015194 commonName VAR_015194
VAR_015194 disease phenotype-associated
VAR_015194 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015195 commonName VAR_015195
VAR_015195 disease phenotype-associated
VAR_015195 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015196 commonName VAR_015196
VAR_015196 disease phenotype-associated
VAR_015196 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015197 commonName VAR_015197
VAR_015197 disease phenotype-associated
VAR_015197 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015198 commonName VAR_015198
VAR_015198 disease phenotype-associated
VAR_015198 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015199 commonName VAR_015199
VAR_015199 disease phenotype-associated
VAR_015199 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_015200 commonName VAR_015200
VAR_015200 disease phenotype-associated
VAR_015200 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_015201 commonName VAR_015201
VAR_015201 disease phenotype-associated
VAR_015201 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015202 commonName VAR_015202
VAR_015202 disease phenotype-associated
VAR_015202 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015203 commonName VAR_015203
VAR_015203 disease phenotype-associated
VAR_015203 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015204 commonName VAR_015204
VAR_015204 disease phenotype-associated
VAR_015204 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015205 commonName VAR_015205
VAR_015205 disease phenotype-associated
VAR_015205 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015206 commonName VAR_015206
VAR_015206 disease phenotype-associated
VAR_015206 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015207 commonName VAR_015207
VAR_015207 disease phenotype-associated
VAR_015207 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015208 commonName VAR_015208
VAR_015208 disease phenotype-associated
VAR_015208 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015209 commonName VAR_015209
VAR_015209 disease phenotype-associated
VAR_015209 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015210 commonName VAR_015210
VAR_015210 disease phenotype-associated
VAR_015210 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015211 commonName VAR_015211
VAR_015211 disease phenotype-associated
VAR_015211 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015212 commonName VAR_015212
VAR_015212 disease phenotype-associated
VAR_015212 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015213 commonName VAR_015213
VAR_015213 disease phenotype-associated
VAR_015213 phenoCommon Nail-patella syndrome (NPS) [MIM:161200]
VAR_015214 commonName VAR_015214
VAR_015214 disease phenotype-associated
VAR_015214 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_015215 commonName VAR_015215
VAR_015215 disease not phenotype-associated
VAR_015216 commonName VAR_015216
VAR_015216 disease not phenotype-associated
VAR_015217 commonName VAR_015217
VAR_015217 disease not phenotype-associated
VAR_015218 commonName VAR_015218
VAR_015218 disease phenotype-associated
VAR_015218 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]
VAR_015219 commonName VAR_015219
VAR_015219 disease phenotype-associated
VAR_015219 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400]
VAR_015220 commonName VAR_015220
VAR_015220 disease phenotype-associated
VAR_015220 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_015221 commonName VAR_015221
VAR_015221 disease phenotype-associated
VAR_015221 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_015222 commonName VAR_015222
VAR_015222 disease phenotype-associated
VAR_015222 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
VAR_015223 commonName VAR_015223
VAR_015223 disease not phenotype-associated
VAR_015224 commonName VAR_015224
VAR_015224 disease not phenotype-associated
VAR_015228 commonName VAR_015228
VAR_015228 disease not phenotype-associated
VAR_015229 comment A hepatocellular carcinoma sample
VAR_015229 commonName VAR_015229
VAR_015230 comment A colorectal cancer sample
VAR_015230 commonName VAR_015230
VAR_015231 commonName VAR_015231
VAR_015231 disease not phenotype-associated
VAR_015232 commonName VAR_015232
VAR_015233 commonName VAR_015233
VAR_015233 disease not phenotype-associated
VAR_015234 commonName VAR_015234
VAR_015234 disease not phenotype-associated
VAR_015235 commonName VAR_015235
VAR_015235 disease not phenotype-associated
VAR_015236 commonName VAR_015236
VAR_015236 disease phenotype-associated
VAR_015236 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_015237 commonName VAR_015237
VAR_015237 disease phenotype-associated
VAR_015237 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_015238 commonName VAR_015238
VAR_015238 disease phenotype-associated
VAR_015238 phenoCommon Waardenburg syndrome type 4 (WS4B) [MIM:613265]
VAR_015239 commonName VAR_015239
VAR_015239 disease phenotype-associated
VAR_015239 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015240 commonName VAR_015240
VAR_015240 disease phenotype-associated
VAR_015240 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015241 commonName VAR_015241
VAR_015241 disease phenotype-associated
VAR_015241 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015242 commonName VAR_015242
VAR_015242 disease phenotype-associated
VAR_015242 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015243 commonName VAR_015243
VAR_015243 disease phenotype-associated
VAR_015243 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015244 commonName VAR_015244
VAR_015244 disease phenotype-associated
VAR_015244 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015245 commonName VAR_015245
VAR_015245 disease phenotype-associated
VAR_015245 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015246 commonName VAR_015246
VAR_015246 disease phenotype-associated
VAR_015246 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015247 commonName VAR_015247
VAR_015247 disease phenotype-associated
VAR_015247 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015248 commonName VAR_015248
VAR_015248 disease phenotype-associated
VAR_015248 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015249 commonName VAR_015249
VAR_015249 disease phenotype-associated
VAR_015249 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015250 commonName VAR_015250
VAR_015250 disease phenotype-associated
VAR_015250 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015251 commonName VAR_015251
VAR_015251 disease phenotype-associated
VAR_015251 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015252 commonName VAR_015252
VAR_015252 disease not phenotype-associated
VAR_015253 commonName VAR_015253
VAR_015253 disease phenotype-associated
VAR_015253 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015254 commonName VAR_015254
VAR_015254 disease phenotype-associated
VAR_015254 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015255 commonName VAR_015255
VAR_015255 disease phenotype-associated
VAR_015255 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015256 commonName VAR_015256
VAR_015256 disease phenotype-associated
VAR_015256 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015257 commonName VAR_015257
VAR_015257 disease phenotype-associated
VAR_015257 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_015258 commonName VAR_015258
VAR_015258 disease phenotype-associated
VAR_015258 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_015259 commonName VAR_015259
VAR_015259 disease phenotype-associated
VAR_015259 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_015260 commonName VAR_015260
VAR_015260 disease phenotype-associated
VAR_015260 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_015262 commonName VAR_015262
VAR_015262 disease phenotype-associated
VAR_015262 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015263 commonName VAR_015263
VAR_015263 disease phenotype-associated
VAR_015263 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015264 commonName VAR_015264
VAR_015264 disease phenotype-associated
VAR_015264 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015265 commonName VAR_015265
VAR_015265 disease phenotype-associated
VAR_015265 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015266 commonName VAR_015266
VAR_015266 disease phenotype-associated
VAR_015266 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015267 commonName VAR_015267
VAR_015267 disease phenotype-associated
VAR_015267 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015268 commonName VAR_015268
VAR_015268 disease phenotype-associated
VAR_015268 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015269 commonName VAR_015269
VAR_015269 disease phenotype-associated
VAR_015269 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015270 commonName VAR_015270
VAR_015270 disease phenotype-associated
VAR_015270 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015271 commonName VAR_015271
VAR_015271 disease phenotype-associated
VAR_015271 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015272 commonName VAR_015272
VAR_015272 disease phenotype-associated
VAR_015272 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015273 commonName VAR_015273
VAR_015273 disease phenotype-associated
VAR_015273 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015274 commonName VAR_015274
VAR_015274 disease phenotype-associated
VAR_015274 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015275 commonName VAR_015275
VAR_015275 disease phenotype-associated
VAR_015275 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015276 commonName VAR_015276
VAR_015276 disease phenotype-associated
VAR_015276 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015277 commonName VAR_015277
VAR_015277 disease phenotype-associated
VAR_015277 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015278 commonName VAR_015278
VAR_015278 disease phenotype-associated
VAR_015278 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015279 commonName VAR_015279
VAR_015279 disease phenotype-associated
VAR_015279 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_015280 commonName VAR_015280
VAR_015280 disease phenotype-associated
VAR_015280 phenoCommon Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
VAR_015281 comment A gastric carcinoma sample
VAR_015281 commonName VAR_015281
VAR_015282 comment A gastric carcinoma sample
VAR_015282 commonName VAR_015282
VAR_015283 comment A gastric carcinoma sample
VAR_015283 commonName VAR_015283
VAR_015284 comment A gastric carcinoma sample
VAR_015284 commonName VAR_015284
VAR_015285 commonName VAR_015285
VAR_015286 comment A gastric carcinoma sample
VAR_015286 commonName VAR_015286
VAR_015294 commonName VAR_015294
VAR_015294 disease phenotype-associated
VAR_015294 phenoCommon Waardenburg syndrome type 4A (WS4A) [MIM:277580]
VAR_015295 commonName VAR_015295
VAR_015295 disease phenotype-associated
VAR_015295 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]
VAR_015296 commonName VAR_015296
VAR_015296 disease not phenotype-associated
VAR_015297 commonName VAR_015297
VAR_015297 disease phenotype-associated
VAR_015297 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015298 commonName VAR_015298
VAR_015298 disease phenotype-associated
VAR_015298 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015299 commonName VAR_015299
VAR_015299 disease phenotype-associated
VAR_015299 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015300 commonName VAR_015300
VAR_015300 disease phenotype-associated
VAR_015300 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015301 commonName VAR_015301
VAR_015301 disease phenotype-associated
VAR_015301 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015302 commonName VAR_015302
VAR_015302 disease phenotype-associated
VAR_015302 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015303 commonName VAR_015303
VAR_015303 disease not phenotype-associated
VAR_015304 commonName VAR_015304
VAR_015304 disease phenotype-associated
VAR_015304 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015305 commonName VAR_015305
VAR_015305 disease phenotype-associated
VAR_015305 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015306 commonName VAR_015306
VAR_015306 disease phenotype-associated
VAR_015306 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015307 commonName VAR_015307
VAR_015307 disease phenotype-associated
VAR_015307 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015308 commonName VAR_015308
VAR_015308 disease phenotype-associated
VAR_015308 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015309 commonName VAR_015309
VAR_015309 disease phenotype-associated
VAR_015309 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015310 commonName VAR_015310
VAR_015310 disease phenotype-associated
VAR_015310 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015311 commonName VAR_015311
VAR_015311 disease phenotype-associated
VAR_015311 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015312 commonName VAR_015312
VAR_015312 disease phenotype-associated
VAR_015312 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015313 commonName VAR_015313
VAR_015313 disease phenotype-associated
VAR_015313 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015314 commonName VAR_015314
VAR_015314 disease phenotype-associated
VAR_015314 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015315 commonName VAR_015315
VAR_015315 disease phenotype-associated
VAR_015315 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015316 commonName VAR_015316
VAR_015316 disease phenotype-associated
VAR_015316 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015317 commonName VAR_015317
VAR_015317 disease phenotype-associated
VAR_015317 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015318 commonName VAR_015318
VAR_015318 disease phenotype-associated
VAR_015318 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015319 commonName VAR_015319
VAR_015319 disease phenotype-associated
VAR_015319 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015320 commonName VAR_015320
VAR_015320 disease phenotype-associated
VAR_015320 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015321 commonName VAR_015321
VAR_015321 disease phenotype-associated
VAR_015321 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015322 commonName VAR_015322
VAR_015322 disease phenotype-associated
VAR_015322 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015323 commonName VAR_015323
VAR_015323 disease not phenotype-associated
VAR_015324 commonName VAR_015324
VAR_015324 disease phenotype-associated
VAR_015324 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015325 commonName VAR_015325
VAR_015325 disease phenotype-associated
VAR_015325 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015326 commonName VAR_015326
VAR_015326 disease phenotype-associated
VAR_015326 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015327 commonName VAR_015327
VAR_015327 disease phenotype-associated
VAR_015327 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015328 commonName VAR_015328
VAR_015328 disease phenotype-associated
VAR_015328 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015329 commonName VAR_015329
VAR_015329 disease phenotype-associated
VAR_015329 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015330 commonName VAR_015330
VAR_015330 disease phenotype-associated
VAR_015330 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015331 commonName VAR_015331
VAR_015331 disease phenotype-associated
VAR_015331 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015332 commonName VAR_015332
VAR_015332 disease phenotype-associated
VAR_015332 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015333 commonName VAR_015333
VAR_015333 disease phenotype-associated
VAR_015333 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015334 commonName VAR_015334
VAR_015334 disease not phenotype-associated
VAR_015335 commonName VAR_015335
VAR_015335 disease phenotype-associated
VAR_015335 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015336 commonName VAR_015336
VAR_015336 disease phenotype-associated
VAR_015336 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015337 commonName VAR_015337
VAR_015337 disease phenotype-associated
VAR_015337 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015338 commonName VAR_015338
VAR_015338 disease not phenotype-associated
VAR_015339 commonName VAR_015339
VAR_015339 disease phenotype-associated
VAR_015339 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015340 commonName VAR_015340
VAR_015340 disease phenotype-associated
VAR_015340 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015341 commonName VAR_015341
VAR_015341 disease phenotype-associated
VAR_015341 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015342 commonName VAR_015342
VAR_015342 disease phenotype-associated
VAR_015342 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015343 commonName VAR_015343
VAR_015343 disease phenotype-associated
VAR_015343 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015344 commonName VAR_015344
VAR_015344 disease phenotype-associated
VAR_015344 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015345 commonName VAR_015345
VAR_015345 disease phenotype-associated
VAR_015345 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015346 commonName VAR_015346
VAR_015346 disease phenotype-associated
VAR_015346 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015347 commonName VAR_015347
VAR_015347 disease phenotype-associated
VAR_015347 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015348 commonName VAR_015348
VAR_015348 disease not phenotype-associated
VAR_015349 commonName VAR_015349
VAR_015349 disease phenotype-associated
VAR_015349 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015350 commonName VAR_015350
VAR_015350 disease phenotype-associated
VAR_015350 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015351 commonName VAR_015351
VAR_015351 disease phenotype-associated
VAR_015351 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015352 commonName VAR_015352
VAR_015352 disease phenotype-associated
VAR_015352 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015353 commonName VAR_015353
VAR_015353 disease phenotype-associated
VAR_015353 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015354 commonName VAR_015354
VAR_015354 disease phenotype-associated
VAR_015354 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015355 commonName VAR_015355
VAR_015355 disease phenotype-associated
VAR_015355 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_015356 commonName VAR_015356
VAR_015356 disease not phenotype-associated
VAR_015357 commonName VAR_015357
VAR_015357 disease phenotype-associated
VAR_015357 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_015358 commonName VAR_015358
VAR_015358 disease not phenotype-associated
VAR_015359 commonName VAR_015359
VAR_015359 disease not phenotype-associated
VAR_015360 commonName VAR_015360
VAR_015360 disease not phenotype-associated
VAR_015361 commonName VAR_015361
VAR_015361 disease not phenotype-associated
VAR_015362 commonName VAR_015362
VAR_015362 disease not phenotype-associated
VAR_015364 commonName VAR_015364
VAR_015364 disease not phenotype-associated
VAR_015365 commonName VAR_015365
VAR_015365 disease not phenotype-associated
VAR_015366 commonName VAR_015366
VAR_015366 disease not phenotype-associated
VAR_015367 commonName VAR_015367
VAR_015367 disease not phenotype-associated
VAR_015368 commonName VAR_015368
VAR_015368 disease not phenotype-associated
VAR_015369 commonName VAR_015369
VAR_015369 disease not phenotype-associated
VAR_015370 commonName VAR_015370
VAR_015370 disease not phenotype-associated
VAR_015371 commonName VAR_015371
VAR_015371 disease not phenotype-associated
VAR_015372 commonName VAR_015372
VAR_015372 disease not phenotype-associated
VAR_015373 commonName VAR_015373
VAR_015373 disease phenotype-associated
VAR_015373 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777]
VAR_015374 commonName VAR_015374
VAR_015374 disease phenotype-associated
VAR_015374 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_015374 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_015375 commonName VAR_015375
VAR_015375 disease phenotype-associated
VAR_015375 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_015376 commonName VAR_015376
VAR_015376 disease phenotype-associated
VAR_015376 phenoCommon Eosinophil peroxidase deficiency (EPD) [MIM:261500]
VAR_015377 commonName VAR_015377
VAR_015377 disease phenotype-associated
VAR_015377 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600]
VAR_015378 commonName VAR_015378
VAR_015378 disease phenotype-associated
VAR_015378 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600]
VAR_015379 commonName VAR_015379
VAR_015379 disease phenotype-associated
VAR_015379 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600]
VAR_015380 commonName VAR_015380
VAR_015380 disease not phenotype-associated
VAR_015381 commonName VAR_015381
VAR_015381 disease phenotype-associated
VAR_015381 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900]
VAR_015382 commonName VAR_015382
VAR_015382 disease phenotype-associated
VAR_015382 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900]
VAR_015383 commonName VAR_015383
VAR_015383 disease phenotype-associated
VAR_015383 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_015384 commonName VAR_015384
VAR_015384 disease phenotype-associated
VAR_015384 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_015385 commonName VAR_015385
VAR_015385 disease not phenotype-associated
VAR_015386 commonName VAR_015386
VAR_015386 disease phenotype-associated
VAR_015386 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050]
VAR_015387 commonName VAR_015387
VAR_015387 disease not phenotype-associated
VAR_015388 commonName VAR_015388
VAR_015388 disease phenotype-associated
VAR_015388 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_015389 commonName VAR_015389
VAR_015389 disease not phenotype-associated
VAR_015390 commonName VAR_015390
VAR_015390 disease phenotype-associated
VAR_015390 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015391 commonName VAR_015391
VAR_015391 disease phenotype-associated
VAR_015391 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015392 commonName VAR_015392
VAR_015392 disease phenotype-associated
VAR_015392 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015393 commonName VAR_015393
VAR_015393 disease phenotype-associated
VAR_015393 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015394 commonName VAR_015394
VAR_015394 disease phenotype-associated
VAR_015394 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015395 commonName VAR_015395
VAR_015395 disease phenotype-associated
VAR_015395 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015396 commonName VAR_015396
VAR_015396 disease phenotype-associated
VAR_015396 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400]
VAR_015397 commonName VAR_015397
VAR_015397 disease phenotype-associated
VAR_015397 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]
VAR_015398 commonName VAR_015398
VAR_015398 disease phenotype-associated
VAR_015398 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432]
VAR_015399 commonName VAR_015399
VAR_015399 disease phenotype-associated
VAR_015399 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432]
VAR_015400 commonName VAR_015400
VAR_015400 disease phenotype-associated
VAR_015400 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432]
VAR_015401 commonName VAR_015401
VAR_015401 disease phenotype-associated
VAR_015401 phenoCommon Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482]
VAR_015402 commonName VAR_015402
VAR_015402 disease phenotype-associated
VAR_015402 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
VAR_015403 commonName VAR_015403
VAR_015403 disease phenotype-associated
VAR_015403 phenoCommon Hemolytic anemia (HAGGSD) [MIM:230450]
VAR_015404 commonName VAR_015404
VAR_015404 disease phenotype-associated
VAR_015404 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015405 commonName VAR_015405
VAR_015405 disease phenotype-associated
VAR_015405 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015406 commonName VAR_015406
VAR_015406 disease not phenotype-associated
VAR_015407 commonName VAR_015407
VAR_015407 disease phenotype-associated
VAR_015407 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015408 commonName VAR_015408
VAR_015408 disease phenotype-associated
VAR_015408 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015409 commonName VAR_015409
VAR_015409 disease phenotype-associated
VAR_015409 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015410 commonName VAR_015410
VAR_015410 disease phenotype-associated
VAR_015410 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_015411 commonName VAR_015411
VAR_015411 disease phenotype-associated
VAR_015411 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_015412 commonName VAR_015412
VAR_015412 disease phenotype-associated
VAR_015412 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_015412 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
VAR_015413 commonName VAR_015413
VAR_015413 disease phenotype-associated
VAR_015413 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_015414 commonName VAR_015414
VAR_015414 disease phenotype-associated
VAR_015414 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_015415 commonName VAR_015415
VAR_015415 disease not phenotype-associated
VAR_015416 commonName VAR_015416
VAR_015416 disease not phenotype-associated
VAR_015417 commonName VAR_015417
VAR_015417 disease not phenotype-associated
VAR_015418 commonName VAR_015418
VAR_015418 disease not phenotype-associated
VAR_015419 commonName VAR_015419
VAR_015419 disease not phenotype-associated
VAR_015420 commonName VAR_015420
VAR_015420 disease not phenotype-associated
VAR_015421 commonName VAR_015421
VAR_015421 disease not phenotype-associated
VAR_015422 commonName VAR_015422
VAR_015422 disease phenotype-associated
VAR_015422 phenoCommon Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]
VAR_015423 commonName VAR_015423
VAR_015423 disease phenotype-associated
VAR_015423 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_015424 commonName VAR_015424
VAR_015424 disease not phenotype-associated
VAR_015425 commonName VAR_015425
VAR_015425 disease not phenotype-associated
VAR_015426 commonName VAR_015426
VAR_015426 disease not phenotype-associated
VAR_015427 commonName VAR_015427
VAR_015428 commonName VAR_015428
VAR_015428 disease phenotype-associated
VAR_015428 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_015429 commonName VAR_015429
VAR_015429 disease phenotype-associated
VAR_015429 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_015430 commonName VAR_015430
VAR_015430 disease phenotype-associated
VAR_015430 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_015431 commonName VAR_015431
VAR_015431 disease phenotype-associated
VAR_015431 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_015432 commonName VAR_015432
VAR_015432 disease phenotype-associated
VAR_015432 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400]
VAR_015433 commonName VAR_015433
VAR_015433 disease phenotype-associated
VAR_015433 phenoCommon GK deficiency (GKD) [MIM:307030]
VAR_015434 commonName VAR_015434
VAR_015434 disease not phenotype-associated
VAR_015435 commonName VAR_015435
VAR_015435 disease not phenotype-associated
VAR_015436 commonName VAR_015436
VAR_015436 disease phenotype-associated
VAR_015436 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015437 commonName VAR_015437
VAR_015437 disease phenotype-associated
VAR_015437 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015438 commonName VAR_015438
VAR_015438 disease phenotype-associated
VAR_015438 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015439 commonName VAR_015439
VAR_015439 disease phenotype-associated
VAR_015439 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015440 commonName VAR_015440
VAR_015440 disease phenotype-associated
VAR_015440 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015441 commonName VAR_015441
VAR_015441 disease phenotype-associated
VAR_015441 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015442 commonName VAR_015442
VAR_015442 disease phenotype-associated
VAR_015442 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]
VAR_015443 commonName VAR_015443
VAR_015443 disease not phenotype-associated
VAR_015444 commonName VAR_015444
VAR_015444 disease not phenotype-associated
VAR_015445 commonName VAR_015445
VAR_015445 disease phenotype-associated
VAR_015445 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710]
VAR_015446 commonName VAR_015446
VAR_015446 disease not phenotype-associated
VAR_015447 commonName VAR_015447
VAR_015447 disease phenotype-associated
VAR_015447 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710]
VAR_015448 commonName VAR_015448
VAR_015448 disease phenotype-associated
VAR_015448 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710]
VAR_015449 commonName VAR_015449
VAR_015449 disease not phenotype-associated
VAR_015450 commonName VAR_015450
VAR_015450 disease phenotype-associated
VAR_015450 phenoCommon Cystathioninuria (CSTNU) [MIM:219500]
VAR_015451 commonName VAR_015451
VAR_015451 disease phenotype-associated
VAR_015451 phenoCommon Cystathioninuria (CSTNU) [MIM:219500]
VAR_015452 commonName VAR_015452
VAR_015452 disease not phenotype-associated
VAR_015453 commonName VAR_015453
VAR_015453 disease phenotype-associated
VAR_015453 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
VAR_015454 commonName VAR_015454
VAR_015454 disease phenotype-associated
VAR_015454 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
VAR_015455 commonName VAR_015455
VAR_015456 commonName VAR_015456
VAR_015456 disease phenotype-associated
VAR_015456 phenoCommon Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]
VAR_015456 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
VAR_015457 commonName VAR_015457
VAR_015458 commonName VAR_015458
VAR_015458 disease phenotype-associated
VAR_015458 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_015459 commonName VAR_015459
VAR_015459 disease not phenotype-associated
VAR_015460 commonName VAR_015460
VAR_015460 disease phenotype-associated
VAR_015460 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_015461 commonName VAR_015461
VAR_015461 disease not phenotype-associated
VAR_015463 commonName VAR_015463
VAR_015463 disease not phenotype-associated
VAR_015464 commonName VAR_015464
VAR_015464 disease not phenotype-associated
VAR_015465 commonName VAR_015465
VAR_015465 disease not phenotype-associated
VAR_015466 commonName VAR_015466
VAR_015466 disease not phenotype-associated
VAR_015468 commonName VAR_015468
VAR_015468 disease not phenotype-associated
VAR_015470 commonName VAR_015470
VAR_015470 disease not phenotype-associated
VAR_015471 commonName VAR_015471
VAR_015471 disease not phenotype-associated
VAR_015472 commonName VAR_015472
VAR_015472 disease not phenotype-associated
VAR_015473 commonName VAR_015473
VAR_015473 disease not phenotype-associated
VAR_015474 commonName VAR_015474
VAR_015474 disease not phenotype-associated
VAR_015475 commonName VAR_015475
VAR_015475 disease not phenotype-associated
VAR_015477 commonName VAR_015477
VAR_015477 disease not phenotype-associated
VAR_015478 commonName VAR_015478
VAR_015478 disease not phenotype-associated
VAR_015479 commonName VAR_015479
VAR_015479 disease not phenotype-associated
VAR_015480 commonName VAR_015480
VAR_015483 commonName VAR_015483
VAR_015483 disease not phenotype-associated
VAR_015484 commonName VAR_015484
VAR_015484 disease not phenotype-associated
VAR_015485 commonName VAR_015485
VAR_015485 disease not phenotype-associated
VAR_015486 commonName VAR_015486
VAR_015487 commonName VAR_015487
VAR_015487 disease not phenotype-associated
VAR_015488 commonName VAR_015488
VAR_015489 commonName VAR_015489
VAR_015489 disease not phenotype-associated
VAR_015490 commonName VAR_015490
VAR_015490 disease not phenotype-associated
VAR_015492 commonName VAR_015492
VAR_015492 disease not phenotype-associated
VAR_015493 commonName VAR_015493
VAR_015493 disease not phenotype-associated
VAR_015494 commonName VAR_015494
VAR_015494 disease not phenotype-associated
VAR_015495 commonName VAR_015495
VAR_015495 disease not phenotype-associated
VAR_015497 commonName VAR_015497
VAR_015497 disease not phenotype-associated
VAR_015498 commonName VAR_015498
VAR_015498 disease not phenotype-associated
VAR_015499 commonName VAR_015499
VAR_015499 disease not phenotype-associated
VAR_015500 commonName VAR_015500
VAR_015500 disease not phenotype-associated
VAR_015501 commonName VAR_015501
VAR_015501 disease not phenotype-associated
VAR_015502 commonName VAR_015502
VAR_015502 disease not phenotype-associated
VAR_015503 commonName VAR_015503
VAR_015503 disease not phenotype-associated
VAR_015504 commonName VAR_015504
VAR_015504 disease not phenotype-associated
VAR_015505 commonName VAR_015505
VAR_015505 disease not phenotype-associated
VAR_015506 commonName VAR_015506
VAR_015506 disease not phenotype-associated
VAR_015507 commonName VAR_015507
VAR_015507 disease not phenotype-associated
VAR_015508 commonName VAR_015508
VAR_015508 disease not phenotype-associated
VAR_015509 commonName VAR_015509
VAR_015509 disease not phenotype-associated
VAR_015510 commonName VAR_015510
VAR_015510 disease not phenotype-associated
HbVar.677 commonName Hb A2-Manzanares
VAR_015511 commonName VAR_015511
VAR_015512 commonName VAR_015512
VAR_015512 disease not phenotype-associated
VAR_015513 commonName VAR_015513
VAR_015513 disease not phenotype-associated
VAR_015514 commonName VAR_015514
VAR_015514 disease not phenotype-associated
VAR_015515 commonName VAR_015515
VAR_015516 commonName VAR_015516
VAR_015516 disease not phenotype-associated
VAR_015517 commonName VAR_015517
VAR_015517 disease not phenotype-associated
VAR_015518 commonName VAR_015518
VAR_015518 disease not phenotype-associated
VAR_015519 commonName VAR_015519
VAR_015519 disease phenotype-associated
VAR_015519 phenoCommon Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
VAR_015520 commonName VAR_015520
VAR_015520 disease phenotype-associated
VAR_015520 phenoCommon Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
VAR_015521 commonName VAR_015521
VAR_015521 disease not phenotype-associated
VAR_015522 commonName VAR_015522
VAR_015522 disease not phenotype-associated
VAR_015523 commonName VAR_015523
VAR_015523 disease not phenotype-associated
VAR_015524 commonName VAR_015524
VAR_015524 disease not phenotype-associated
VAR_015525 commonName VAR_015525
VAR_015525 disease phenotype-associated
VAR_015525 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015526 commonName VAR_015526
VAR_015526 disease phenotype-associated
VAR_015526 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015527 commonName VAR_015527
VAR_015527 disease phenotype-associated
VAR_015527 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015528 commonName VAR_015528
VAR_015528 disease phenotype-associated
VAR_015528 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015529 commonName VAR_015529
VAR_015529 disease phenotype-associated
VAR_015529 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015530 commonName VAR_015530
VAR_015530 disease phenotype-associated
VAR_015530 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015531 commonName VAR_015531
VAR_015531 disease phenotype-associated
VAR_015531 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015532 commonName VAR_015532
VAR_015532 disease phenotype-associated
VAR_015532 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
VAR_015533 commonName VAR_015533
VAR_015533 disease phenotype-associated
VAR_015533 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_015534 commonName VAR_015534
VAR_015534 disease phenotype-associated
VAR_015534 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_015535 commonName VAR_015535
VAR_015535 disease phenotype-associated
VAR_015535 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_015536 commonName VAR_015536
VAR_015536 disease phenotype-associated
VAR_015536 phenoCommon Glycogen storage disease type 9B (GSD9B) [MIM:261750]
VAR_015537 commonName VAR_015537
VAR_015537 disease not phenotype-associated
VAR_015539 commonName VAR_015539
VAR_015539 disease phenotype-associated
VAR_015539 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_015540 commonName VAR_015540
VAR_015540 disease phenotype-associated
VAR_015540 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_015542 commonName VAR_015542
VAR_015542 disease phenotype-associated
VAR_015542 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_015543 commonName VAR_015543
VAR_015543 disease not phenotype-associated
VAR_015544 commonName VAR_015544
VAR_015544 disease not phenotype-associated
VAR_015545 commonName VAR_015545
VAR_015545 disease not phenotype-associated
VAR_015546 commonName VAR_015546
VAR_015546 disease not phenotype-associated
VAR_015547 commonName VAR_015547
VAR_015547 disease not phenotype-associated
VAR_015548 commonName VAR_015548
VAR_015548 disease not phenotype-associated
VAR_015549 commonName VAR_015549
VAR_015549 disease not phenotype-associated
VAR_015550 commonName VAR_015550
VAR_015550 disease phenotype-associated
VAR_015550 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
VAR_015551 commonName VAR_015551
VAR_015551 disease phenotype-associated
VAR_015551 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
VAR_015552 commonName VAR_015552
VAR_015552 disease not phenotype-associated
VAR_015556 commonName VAR_015556
VAR_015556 disease not phenotype-associated
VAR_015557 commonName VAR_015557
VAR_015557 disease not phenotype-associated
VAR_015558 commonName VAR_015558
VAR_015558 disease not phenotype-associated
VAR_015559 commonName VAR_015559
VAR_015559 disease not phenotype-associated
VAR_015560 commonName VAR_015560
VAR_015560 disease phenotype-associated
VAR_015560 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_015561 commonName VAR_015561
VAR_015561 disease phenotype-associated
VAR_015561 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_015562 commonName VAR_015562
VAR_015562 disease phenotype-associated
VAR_015562 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_015568 commonName VAR_015568
VAR_015568 disease not phenotype-associated
VAR_015569 commonName VAR_015569
VAR_015569 disease phenotype-associated
VAR_015569 phenoCommon Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
VAR_015570 commonName VAR_015570
VAR_015570 disease phenotype-associated
VAR_015570 phenoCommon Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
VAR_015574 commonName VAR_015574
VAR_015574 disease phenotype-associated
VAR_015574 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]
VAR_015575 commonName VAR_015575
VAR_015575 disease not phenotype-associated
VAR_015576 commonName VAR_015576
VAR_015576 disease phenotype-associated
VAR_015576 phenoCommon Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]
VAR_015577 commonName VAR_015577
VAR_015577 disease phenotype-associated
VAR_015577 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_015578 commonName VAR_015578
VAR_015578 disease phenotype-associated
VAR_015578 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_015579 commonName VAR_015579
VAR_015579 disease phenotype-associated
VAR_015579 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015580 commonName VAR_015580
VAR_015580 disease phenotype-associated
VAR_015580 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015581 commonName VAR_015581
VAR_015581 disease phenotype-associated
VAR_015581 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015582 commonName VAR_015582
VAR_015582 disease phenotype-associated
VAR_015582 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015583 commonName VAR_015583
VAR_015583 disease phenotype-associated
VAR_015583 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015584 commonName VAR_015584
VAR_015584 disease phenotype-associated
VAR_015584 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015585 commonName VAR_015585
VAR_015585 disease phenotype-associated
VAR_015585 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015586 commonName VAR_015586
VAR_015586 disease phenotype-associated
VAR_015586 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015587 commonName VAR_015587
VAR_015587 disease phenotype-associated
VAR_015587 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_015588 commonName VAR_015588
VAR_015588 disease phenotype-associated
VAR_015588 phenoCommon Brody myopathy (BRM) [MIM:601003]
VAR_015589 commonName VAR_015589
VAR_015589 disease phenotype-associated
VAR_015589 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_015590 commonName VAR_015590
VAR_015590 disease phenotype-associated
VAR_015590 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_015591 commonName VAR_015591
VAR_015591 disease phenotype-associated
VAR_015591 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_015592 commonName VAR_015592
VAR_015592 disease phenotype-associated
VAR_015592 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_015593 commonName VAR_015593
VAR_015593 disease not phenotype-associated
VAR_015594 commonName VAR_015594
VAR_015594 disease phenotype-associated
VAR_015594 phenoCommon Argininemia (ARGIN) [MIM:207800]
VAR_015595 commonName VAR_015595
VAR_015595 disease phenotype-associated
VAR_015595 phenoCommon Argininemia (ARGIN) [MIM:207800]
VAR_015596 commonName VAR_015596
VAR_015596 disease not phenotype-associated
VAR_015597 commonName VAR_015597
VAR_015597 disease not phenotype-associated
VAR_015598 commonName VAR_015598
VAR_015598 disease not phenotype-associated
VAR_015599 commonName VAR_015599
VAR_015599 disease not phenotype-associated
VAR_015600 commonName VAR_015600
VAR_015600 disease not phenotype-associated
VAR_015628 commonName VAR_015628
VAR_015628 disease not phenotype-associated
VAR_015629 commonName VAR_015629
VAR_015629 disease not phenotype-associated
VAR_015630 commonName VAR_015630
VAR_015630 disease not phenotype-associated
VAR_015635 commonName VAR_015635
VAR_015635 disease phenotype-associated
VAR_015635 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015636 commonName VAR_015636
VAR_015636 disease phenotype-associated
VAR_015636 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015637 commonName VAR_015637
VAR_015637 disease phenotype-associated
VAR_015637 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015638 commonName VAR_015638
VAR_015638 disease phenotype-associated
VAR_015638 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015639 commonName VAR_015639
VAR_015640 commonName VAR_015640
VAR_015640 disease phenotype-associated
VAR_015640 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015641 commonName VAR_015641
VAR_015641 disease phenotype-associated
VAR_015641 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015642 commonName VAR_015642
VAR_015642 disease phenotype-associated
VAR_015642 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015644 commonName VAR_015644
VAR_015644 disease phenotype-associated
VAR_015644 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015645 commonName VAR_015645
VAR_015645 disease phenotype-associated
VAR_015645 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015646 commonName VAR_015646
VAR_015646 disease phenotype-associated
VAR_015646 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_015648 commonName VAR_015648
VAR_015648 disease phenotype-associated
VAR_015648 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
VAR_015649 commonName VAR_015649
VAR_015649 disease not phenotype-associated
VAR_015650 commonName VAR_015650
VAR_015650 disease not phenotype-associated
VAR_015652 commonName VAR_015652
VAR_015652 disease not phenotype-associated
VAR_015653 commonName VAR_015653
VAR_015653 disease not phenotype-associated
VAR_015654 commonName VAR_015654
VAR_015654 disease not phenotype-associated
VAR_015655 commonName VAR_015655
VAR_015655 disease not phenotype-associated
VAR_015656 commonName VAR_015656
VAR_015656 disease not phenotype-associated
VAR_015663 commonName VAR_015663
VAR_015663 disease not phenotype-associated
VAR_015664 commonName VAR_015664
VAR_015664 disease not phenotype-associated
VAR_015665 commonName VAR_015665
VAR_015665 disease not phenotype-associated
VAR_015666 commonName VAR_015666
VAR_015666 disease not phenotype-associated
VAR_015667 commonName VAR_015667
VAR_015667 disease not phenotype-associated
VAR_015668 commonName VAR_015668
VAR_015668 disease phenotype-associated
VAR_015668 phenoCommon Autism X-linked type 1 (AUTSX1) [MIM:300425]
VAR_015668 phenoCommon X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]
VAR_015669 commonName VAR_015669
VAR_015669 disease phenotype-associated
VAR_015669 phenoCommon Mental retardation X-linked ARX-related (MRXARX) [MIM:300419]
VAR_015671 commonName VAR_015671
VAR_015671 disease phenotype-associated
VAR_015671 phenoCommon Mental retardation X-linked ARX-related (MRXARX) [MIM:300419]
VAR_015672 commonName VAR_015672
VAR_015672 disease not phenotype-associated
VAR_015673 commonName VAR_015673
VAR_015673 disease not phenotype-associated
VAR_015674 commonName VAR_015674
VAR_015674 disease phenotype-associated
VAR_015674 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
VAR_015675 commonName VAR_015675
VAR_015675 disease phenotype-associated
VAR_015675 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
VAR_015676 commonName VAR_015676
VAR_015676 disease phenotype-associated
VAR_015676 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
VAR_015677 commonName VAR_015677
VAR_015677 disease not phenotype-associated
VAR_015678 commonName VAR_015678
VAR_015678 disease phenotype-associated
VAR_015678 phenoCommon Parkinson disease type 5 (PARK5) [MIM:613643]
VAR_015679 commonName VAR_015679
VAR_015679 disease not phenotype-associated
VAR_015680 commonName VAR_015680
VAR_015680 disease phenotype-associated
VAR_015680 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_015681 commonName VAR_015681
VAR_015681 disease phenotype-associated
VAR_015681 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_015682 commonName VAR_015682
VAR_015682 disease phenotype-associated
VAR_015682 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_015683 commonName VAR_015683
VAR_015683 disease phenotype-associated
VAR_015683 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_015686 commonName VAR_015686
VAR_015686 disease phenotype-associated
VAR_015686 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_015687 comment Pancreatic cancer
VAR_015687 commonName VAR_015687
VAR_015688 comment Pancreatic cancer
VAR_015688 commonName VAR_015688
VAR_015689 commonName VAR_015689
VAR_015689 disease phenotype-associated
VAR_015689 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_015690 commonName VAR_015690
VAR_015690 disease not phenotype-associated
VAR_015691 commonName VAR_015691
VAR_015691 disease not phenotype-associated
VAR_015692 commonName VAR_015692
VAR_015692 disease not phenotype-associated
VAR_015693 commonName VAR_015693
VAR_015693 disease not phenotype-associated
VAR_015694 commonName VAR_015694
VAR_015694 disease not phenotype-associated
VAR_015695 commonName VAR_015695
VAR_015695 disease not phenotype-associated
VAR_015696 commonName VAR_015696
VAR_015696 disease phenotype-associated
VAR_015696 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500]
VAR_015697 commonName VAR_015697
VAR_015697 disease phenotype-associated
VAR_015697 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500]
VAR_015698 commonName VAR_015698
VAR_015698 disease phenotype-associated
VAR_015698 phenoCommon Tooth agenesis selective type 3 (STHAG3) [MIM:604625]
VAR_015699 commonName VAR_015699
VAR_015699 disease phenotype-associated
VAR_015699 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_015700 commonName VAR_015700
VAR_015700 disease phenotype-associated
VAR_015700 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
VAR_015701 commonName VAR_015701
VAR_015701 disease phenotype-associated
VAR_015701 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015702 commonName VAR_015702
VAR_015702 disease phenotype-associated
VAR_015702 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620]
VAR_015703 commonName VAR_015703
VAR_015703 disease phenotype-associated
VAR_015703 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350]
VAR_015704 commonName VAR_015704
VAR_015704 disease phenotype-associated
VAR_015704 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350]
VAR_015705 commonName VAR_015705
VAR_015705 disease not phenotype-associated
VAR_015706 commonName VAR_015706
VAR_015706 disease not phenotype-associated
VAR_015707 commonName VAR_015707
VAR_015707 disease not phenotype-associated
VAR_015708 commonName VAR_015708
VAR_015708 disease not phenotype-associated
VAR_015709 commonName VAR_015709
VAR_015709 disease not phenotype-associated
VAR_015710 commonName VAR_015710
VAR_015710 disease not phenotype-associated
VAR_015711 commonName VAR_015711
VAR_015711 disease not phenotype-associated
VAR_015712 commonName VAR_015712
VAR_015712 disease phenotype-associated
VAR_015712 phenoCommon Tooth agenesis selective type 1 (STHAG1) [MIM:106600]
VAR_015713 commonName VAR_015713
VAR_015713 disease phenotype-associated
VAR_015713 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015714 commonName VAR_015714
VAR_015714 disease phenotype-associated
VAR_015714 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
VAR_015715 commonName VAR_015715
VAR_015715 disease phenotype-associated
VAR_015715 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015716 commonName VAR_015716
VAR_015716 disease phenotype-associated
VAR_015716 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
VAR_015717 commonName VAR_015717
VAR_015717 disease phenotype-associated
VAR_015717 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015718 commonName VAR_015718
VAR_015718 disease phenotype-associated
VAR_015718 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015719 commonName VAR_015719
VAR_015719 disease phenotype-associated
VAR_015719 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015720 commonName VAR_015720
VAR_015720 disease phenotype-associated
VAR_015720 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350]
VAR_015721 commonName VAR_015721
VAR_015721 disease phenotype-associated
VAR_015721 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620]
VAR_015723 commonName VAR_015723
VAR_015723 disease phenotype-associated
VAR_015723 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_015724 commonName VAR_015724
VAR_015724 disease phenotype-associated
VAR_015724 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015725 commonName VAR_015725
VAR_015725 disease phenotype-associated
VAR_015725 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015726 commonName VAR_015726
VAR_015726 disease phenotype-associated
VAR_015726 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015727 commonName VAR_015727
VAR_015727 disease phenotype-associated
VAR_015727 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015728 commonName VAR_015728
VAR_015728 disease phenotype-associated
VAR_015728 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015729 commonName VAR_015729
VAR_015729 disease phenotype-associated
VAR_015729 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015730 commonName VAR_015730
VAR_015730 disease phenotype-associated
VAR_015730 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
VAR_015731 commonName VAR_015731
VAR_015731 disease phenotype-associated
VAR_015731 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270]
VAR_015732 commonName VAR_015732
VAR_015732 disease not phenotype-associated
VAR_015733 commonName VAR_015733
VAR_015733 disease phenotype-associated
VAR_015733 phenoCommon Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
VAR_015734 commonName VAR_015734
VAR_015734 disease phenotype-associated
VAR_015734 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_015735 commonName VAR_015735
VAR_015735 disease phenotype-associated
VAR_015735 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_015736 commonName VAR_015736
VAR_015736 disease not phenotype-associated
VAR_015737 commonName VAR_015737
VAR_015737 disease not phenotype-associated
VAR_015738 commonName VAR_015738
VAR_015738 disease phenotype-associated
VAR_015738 phenoCommon Pycnodysostosis (PKND) [MIM:265800]
VAR_015739 commonName VAR_015739
VAR_015739 disease phenotype-associated
VAR_015739 phenoCommon Pycnodysostosis (PKND) [MIM:265800]
VAR_015740 commonName VAR_015740
VAR_015741 commonName VAR_015741
VAR_015741 disease phenotype-associated
VAR_015741 phenoCommon Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
VAR_015741 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_015742 commonName VAR_015742
VAR_015742 disease phenotype-associated
VAR_015742 phenoCommon Familial atrial fibrillation type 3 (ATFB3) [MIM:607554]
VAR_015743 commonName VAR_015743
VAR_015743 disease phenotype-associated
VAR_015743 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]
VAR_015744 commonName VAR_015744
VAR_015744 disease phenotype-associated
VAR_015744 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]
VAR_015745 commonName VAR_015745
VAR_015745 disease phenotype-associated
VAR_015745 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]
VAR_015746 commonName VAR_015746
VAR_015746 disease phenotype-associated
VAR_015746 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_015747 commonName VAR_015747
VAR_015747 disease phenotype-associated
VAR_015747 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015748 commonName VAR_015748
VAR_015748 disease phenotype-associated
VAR_015748 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015749 commonName VAR_015749
VAR_015749 disease phenotype-associated
VAR_015749 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015750 commonName VAR_015750
VAR_015750 disease phenotype-associated
VAR_015750 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015751 commonName VAR_015751
VAR_015751 disease phenotype-associated
VAR_015751 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015752 commonName VAR_015752
VAR_015752 disease phenotype-associated
VAR_015752 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015753 commonName VAR_015753
VAR_015753 disease phenotype-associated
VAR_015753 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015755 commonName VAR_015755
VAR_015755 disease phenotype-associated
VAR_015755 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015756 commonName VAR_015756
VAR_015756 disease phenotype-associated
VAR_015756 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015757 commonName VAR_015757
VAR_015757 disease phenotype-associated
VAR_015757 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015758 commonName VAR_015758
VAR_015758 disease phenotype-associated
VAR_015758 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015759 commonName VAR_015759
VAR_015759 disease phenotype-associated
VAR_015759 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015760 commonName VAR_015760
VAR_015760 disease phenotype-associated
VAR_015760 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015761 commonName VAR_015761
VAR_015761 disease phenotype-associated
VAR_015761 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015762 commonName VAR_015762
VAR_015762 disease phenotype-associated
VAR_015762 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015763 commonName VAR_015763
VAR_015763 disease phenotype-associated
VAR_015763 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_015764 commonName VAR_015764
VAR_015764 disease not phenotype-associated
VAR_015771 commonName VAR_015771
VAR_015771 disease phenotype-associated
VAR_015771 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_015772 commonName VAR_015772
VAR_015772 disease phenotype-associated
VAR_015772 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_015773 commonName VAR_015773
VAR_015773 disease phenotype-associated
VAR_015773 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_015774 commonName VAR_015774
VAR_015774 disease phenotype-associated
VAR_015774 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_015775 commonName VAR_015775
VAR_015775 disease not phenotype-associated
VAR_015776 commonName VAR_015776
VAR_015776 disease not phenotype-associated
VAR_015777 commonName VAR_015777
VAR_015777 disease not phenotype-associated
VAR_015778 commonName VAR_015778
VAR_015778 disease not phenotype-associated
VAR_015779 commonName VAR_015779
VAR_015779 disease not phenotype-associated
VAR_015780 commonName VAR_015780
VAR_015780 disease phenotype-associated
VAR_015780 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015781 commonName VAR_015781
VAR_015781 disease phenotype-associated
VAR_015781 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015782 commonName VAR_015782
VAR_015782 disease phenotype-associated
VAR_015782 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015783 commonName VAR_015783
VAR_015783 disease phenotype-associated
VAR_015783 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015784 commonName VAR_015784
VAR_015784 disease phenotype-associated
VAR_015784 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015785 commonName VAR_015785
VAR_015785 disease phenotype-associated
VAR_015785 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015786 commonName VAR_015786
VAR_015786 disease phenotype-associated
VAR_015786 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015787 commonName VAR_015787
VAR_015787 disease phenotype-associated
VAR_015787 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015788 commonName VAR_015788
VAR_015788 disease phenotype-associated
VAR_015788 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590]
VAR_015789 commonName VAR_015789
VAR_015789 disease phenotype-associated
VAR_015789 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015790 commonName VAR_015790
VAR_015790 disease phenotype-associated
VAR_015790 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015791 commonName VAR_015791
VAR_015791 disease phenotype-associated
VAR_015791 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550]
VAR_015792 commonName VAR_015792
VAR_015792 disease phenotype-associated
VAR_015792 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590]
VAR_015793 commonName VAR_015793
VAR_015793 disease phenotype-associated
VAR_015793 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590]
VAR_015794 commonName VAR_015794
VAR_015794 disease not phenotype-associated
VAR_015795 commonName VAR_015795
VAR_015795 disease not phenotype-associated
VAR_015796 commonName VAR_015796
VAR_015796 disease phenotype-associated
VAR_015796 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015797 commonName VAR_015797
VAR_015797 disease phenotype-associated
VAR_015797 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015798 commonName VAR_015798
VAR_015798 disease phenotype-associated
VAR_015798 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015799 commonName VAR_015799
VAR_015799 disease phenotype-associated
VAR_015799 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015800 commonName VAR_015800
VAR_015800 disease phenotype-associated
VAR_015800 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015801 commonName VAR_015801
VAR_015801 disease phenotype-associated
VAR_015801 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015802 commonName VAR_015802
VAR_015802 disease phenotype-associated
VAR_015802 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015803 commonName VAR_015803
VAR_015803 disease phenotype-associated
VAR_015803 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015804 commonName VAR_015804
VAR_015804 disease phenotype-associated
VAR_015804 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015805 commonName VAR_015805
VAR_015805 disease phenotype-associated
VAR_015805 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015806 commonName VAR_015806
VAR_015806 disease phenotype-associated
VAR_015806 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015807 commonName VAR_015807
VAR_015807 disease phenotype-associated
VAR_015807 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015808 commonName VAR_015808
VAR_015808 disease phenotype-associated
VAR_015808 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015809 commonName VAR_015809
VAR_015809 disease phenotype-associated
VAR_015809 phenoCommon Kowarski syndrome (KWKS) [MIM:262650]
VAR_015810 commonName VAR_015810
VAR_015810 disease phenotype-associated
VAR_015810 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015811 commonName VAR_015811
VAR_015811 disease phenotype-associated
VAR_015811 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015812 commonName VAR_015812
VAR_015812 disease phenotype-associated
VAR_015812 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015813 commonName VAR_015813
VAR_015813 disease phenotype-associated
VAR_015813 phenoCommon Kowarski syndrome (KWKS) [MIM:262650]
VAR_015814 commonName VAR_015814
VAR_015814 disease phenotype-associated
VAR_015814 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]
VAR_015815 commonName VAR_015815
VAR_015815 disease phenotype-associated
VAR_015815 phenoCommon Growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100]
VAR_015817 commonName VAR_015817
VAR_015817 disease phenotype-associated
VAR_015817 phenoCommon Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]
VAR_015818 commonName VAR_015818
VAR_015818 disease phenotype-associated
VAR_015818 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_015819 commonName VAR_015819
VAR_015819 disease phenotype-associated
VAR_015819 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_015820 commonName VAR_015820
VAR_015822 commonName VAR_015822
VAR_015822 disease not phenotype-associated
VAR_015823 comment A CNS cancer cell line
VAR_015823 commonName VAR_015823
VAR_015824 commonName VAR_015824
VAR_015824 disease not phenotype-associated
VAR_015825 comment A CNS cancer cell line
VAR_015825 commonName VAR_015825
VAR_015826 comment Ovarian cancer cell lines
VAR_015826 commonName VAR_015826
VAR_015827 commonName VAR_015827
VAR_015827 disease not phenotype-associated
VAR_015828 comment Colorectal cancer cell line
VAR_015828 commonName VAR_015828
VAR_015829 comment A prostate cancer cell line
VAR_015829 commonName VAR_015829
VAR_015830 commonName VAR_015830
VAR_015830 disease not phenotype-associated
VAR_015831 commonName VAR_015831
VAR_015831 disease not phenotype-associated
VAR_015832 commonName VAR_015832
VAR_015832 disease not phenotype-associated
VAR_015836 commonName VAR_015836
VAR_015836 disease not phenotype-associated
VAR_015837 commonName VAR_015837
VAR_015837 disease not phenotype-associated
VAR_015838 commonName VAR_015838
VAR_015838 disease not phenotype-associated
VAR_015839 commonName VAR_015839
VAR_015839 disease not phenotype-associated
VAR_015840 commonName VAR_015840
VAR_015840 disease not phenotype-associated
VAR_015841 commonName VAR_015841
VAR_015841 disease not phenotype-associated
VAR_015842 commonName VAR_015842
VAR_015842 disease not phenotype-associated
VAR_015843 commonName VAR_015843
VAR_015843 disease not phenotype-associated
VAR_015844 commonName VAR_015844
VAR_015844 disease not phenotype-associated
VAR_015845 commonName VAR_015845
VAR_015845 disease not phenotype-associated
VAR_015846 commonName VAR_015846
VAR_015846 disease not phenotype-associated
VAR_015847 commonName VAR_015847
VAR_015847 disease not phenotype-associated
VAR_015848 commonName VAR_015848
VAR_015848 disease phenotype-associated
VAR_015848 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_015849 commonName VAR_015849
VAR_015849 disease phenotype-associated
VAR_015849 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_015850 commonName VAR_015850
VAR_015850 disease phenotype-associated
VAR_015850 phenoCommon Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]
VAR_015851 commonName VAR_015851
VAR_015851 disease phenotype-associated
VAR_015851 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_015852 commonName VAR_015852
VAR_015852 disease not phenotype-associated
VAR_015853 commonName VAR_015853
VAR_015855 commonName VAR_015855
VAR_015855 disease phenotype-associated
VAR_015855 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
VAR_015856 commonName VAR_015856
VAR_015856 disease phenotype-associated
VAR_015856 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
VAR_015857 commonName VAR_015857
VAR_015857 disease phenotype-associated
VAR_015857 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
VAR_015858 commonName VAR_015858
VAR_015858 disease phenotype-associated
VAR_015858 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
VAR_015859 commonName VAR_015859
VAR_015859 disease not phenotype-associated
VAR_015860 commonName VAR_015860
VAR_015860 disease not phenotype-associated
VAR_015861 commonName VAR_015861
VAR_015861 disease not phenotype-associated
VAR_015862 comment A lung small cell carcinoma sample
VAR_015862 commonName VAR_015862
VAR_015863 comment A lung small cell carcinoma sample
VAR_015863 commonName VAR_015863
VAR_015864 comment A lung small cell carcinoma sample
VAR_015864 commonName VAR_015864
VAR_015865 comment A lung adenocarcinoma sample
VAR_015865 commonName VAR_015865
VAR_015866 comment A lung large cell carcinoma sample
VAR_015866 commonName VAR_015866
VAR_015867 comment A lung adenocarcinoma sample
VAR_015867 commonName VAR_015867
VAR_015868 comment A lung squamous cell carcinoma sample
VAR_015868 commonName VAR_015868
VAR_015869 comment A lung adenocarcinoma sample
VAR_015869 commonName VAR_015869
VAR_015870 comment A lung small cell carcinoma sample
VAR_015870 commonName VAR_015870
VAR_015871 comment A lung large cell carcinoma sample
VAR_015871 commonName VAR_015871
VAR_015872 comment A lung adenocarcinoma sample
VAR_015872 commonName VAR_015872
VAR_015873 comment A lung adenocarcinoma sample
VAR_015873 commonName VAR_015873
VAR_015874 comment A lung adenocarcinoma sample
VAR_015874 commonName VAR_015874
VAR_015880 comment A colon cancer cell line
VAR_015880 commonName VAR_015880
VAR_015881 commonName VAR_015881
VAR_015881 disease not phenotype-associated
VAR_015882 commonName VAR_015882
VAR_015882 disease not phenotype-associated
VAR_015883 commonName VAR_015883
VAR_015884 commonName VAR_015884
VAR_015885 commonName VAR_015885
VAR_015885 disease phenotype-associated
VAR_015885 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_015886 commonName VAR_015886
VAR_015886 disease not phenotype-associated
VAR_015887 commonName VAR_015887
VAR_015887 disease phenotype-associated
VAR_015887 phenoCommon Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
VAR_015888 commonName VAR_015888
VAR_015888 disease phenotype-associated
VAR_015888 phenoCommon Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
VAR_015890 commonName VAR_015890
VAR_015890 disease not phenotype-associated
VAR_015891 commonName VAR_015891
VAR_015891 disease phenotype-associated
VAR_015891 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015892 commonName VAR_015892
VAR_015892 disease phenotype-associated
VAR_015892 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015893 commonName VAR_015893
VAR_015893 disease phenotype-associated
VAR_015893 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015894 commonName VAR_015894
VAR_015894 disease phenotype-associated
VAR_015894 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015895 commonName VAR_015895
VAR_015895 disease phenotype-associated
VAR_015895 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015896 commonName VAR_015896
VAR_015896 disease phenotype-associated
VAR_015896 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015897 commonName VAR_015897
VAR_015897 disease phenotype-associated
VAR_015897 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015898 commonName VAR_015898
VAR_015898 disease phenotype-associated
VAR_015898 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015899 commonName VAR_015899
VAR_015899 disease phenotype-associated
VAR_015899 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015900 commonName VAR_015900
VAR_015900 disease phenotype-associated
VAR_015900 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015901 commonName VAR_015901
VAR_015901 disease phenotype-associated
VAR_015901 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015902 commonName VAR_015902
VAR_015902 disease phenotype-associated
VAR_015902 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015903 commonName VAR_015903
VAR_015903 disease phenotype-associated
VAR_015903 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015904 commonName VAR_015904
VAR_015904 disease phenotype-associated
VAR_015904 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_015905 comment A colon cancer sample
VAR_015905 commonName VAR_015905
VAR_015906 comment A colon cancer sample
VAR_015906 commonName VAR_015906
VAR_015907 commonName VAR_015907
VAR_015907 disease phenotype-associated
VAR_015907 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_015908 commonName VAR_015908
VAR_015908 disease phenotype-associated
VAR_015908 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_015909 commonName VAR_015909
VAR_015909 disease phenotype-associated
HbVar.677 ethnic Spanish
HbVar.677 phenoCommon Hemoglobin variant
VAR_015909 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_015910 commonName VAR_015910
VAR_015910 disease phenotype-associated
VAR_015910 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_015911 commonName VAR_015911
VAR_015911 disease phenotype-associated
VAR_015911 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_015912 commonName VAR_015912
VAR_015912 disease phenotype-associated
VAR_015912 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_015914 commonName VAR_015914
VAR_015914 disease phenotype-associated
VAR_015914 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_015914 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190]
VAR_015915 commonName VAR_015915
VAR_015915 disease not phenotype-associated
VAR_015916 commonName VAR_015916
VAR_015916 disease not phenotype-associated
VAR_015935 commonName VAR_015935
VAR_015935 disease phenotype-associated
VAR_015935 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
VAR_015936 commonName VAR_015936
VAR_015936 disease phenotype-associated
VAR_015936 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]
VAR_015937 commonName VAR_015937
VAR_015937 disease phenotype-associated
VAR_015937 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_015938 commonName VAR_015938
VAR_015938 disease not phenotype-associated
VAR_015939 commonName VAR_015939
VAR_015939 disease not phenotype-associated
VAR_015940 commonName VAR_015940
VAR_015940 disease phenotype-associated
VAR_015940 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_015941 commonName VAR_015941
VAR_015941 disease phenotype-associated
VAR_015941 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_015942 commonName VAR_015942
VAR_015942 disease not phenotype-associated
VAR_015943 commonName VAR_015943
VAR_015943 disease phenotype-associated
VAR_015943 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_015944 commonName VAR_015944
VAR_015944 disease phenotype-associated
VAR_015944 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_015946 commonName VAR_015946
VAR_015947 commonName VAR_015947
VAR_015947 disease phenotype-associated
VAR_015947 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]
VAR_015948 commonName VAR_015948
VAR_015949 commonName VAR_015949
VAR_015949 disease phenotype-associated
VAR_015949 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]
VAR_015950 commonName VAR_015950
VAR_015950 disease phenotype-associated
VAR_015950 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]
VAR_015952 commonName VAR_015952
VAR_015952 disease phenotype-associated
VAR_015952 phenoCommon Brachydactyly type D (BDD) [MIM:113200]
VAR_015952 phenoCommon Brachydactyly type E (BDE1) [MIM:113300]
VAR_015953 commonName VAR_015953
VAR_015953 disease phenotype-associated
VAR_015953 phenoCommon Brachydactyly type E (BDE1) [MIM:113300]
VAR_015954 commonName VAR_015954
VAR_015954 disease phenotype-associated
VAR_015954 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_015955 commonName VAR_015955
VAR_015955 disease phenotype-associated
VAR_015955 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_015956 commonName VAR_015956
VAR_015956 disease phenotype-associated
VAR_015956 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_015957 commonName VAR_015957
VAR_015957 disease phenotype-associated
VAR_015957 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
VAR_015960 commonName VAR_015960
VAR_015960 disease phenotype-associated
VAR_015960 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015961 commonName VAR_015961
VAR_015961 disease phenotype-associated
VAR_015961 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015962 commonName VAR_015962
VAR_015962 disease phenotype-associated
VAR_015962 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015963 commonName VAR_015963
VAR_015963 disease phenotype-associated
VAR_015963 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015964 commonName VAR_015964
VAR_015964 disease phenotype-associated
VAR_015964 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015965 commonName VAR_015965
VAR_015965 disease phenotype-associated
VAR_015965 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015966 commonName VAR_015966
VAR_015966 disease phenotype-associated
VAR_015966 phenoCommon Isovaleric acidemia (IVA) [MIM:243500]
VAR_015967 commonName VAR_015967
VAR_015967 disease not phenotype-associated
VAR_015968 commonName VAR_015968
VAR_015968 disease not phenotype-associated
VAR_015969 commonName VAR_015969
VAR_015969 disease not phenotype-associated
VAR_015970 commonName VAR_015970
VAR_015970 disease not phenotype-associated
VAR_015971 commonName VAR_015971
VAR_015971 disease phenotype-associated
VAR_015971 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]
VAR_015972 commonName VAR_015972
VAR_015972 disease phenotype-associated
VAR_015972 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_015973 commonName VAR_015973
VAR_015973 disease phenotype-associated
VAR_015973 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]
VAR_015974 commonName VAR_015974
VAR_015974 disease phenotype-associated
VAR_015974 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_015975 commonName VAR_015975
VAR_015975 disease phenotype-associated
VAR_015975 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_015976 commonName VAR_015976
VAR_015976 disease phenotype-associated
VAR_015976 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_015977 commonName VAR_015977
VAR_015977 disease phenotype-associated
VAR_015977 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_015977 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_015978 commonName VAR_015978
VAR_015978 disease phenotype-associated
VAR_015978 phenoCommon Roussy-Levy syndrome (ROULS) [MIM:180800]
VAR_015979 commonName VAR_015979
VAR_015979 disease phenotype-associated
VAR_015979 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_015980 commonName VAR_015980
VAR_015980 disease phenotype-associated
VAR_015980 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_015981 commonName VAR_015981
VAR_015981 disease phenotype-associated
VAR_015981 phenoCommon Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
VAR_015982 commonName VAR_015982
VAR_015982 disease phenotype-associated
VAR_015982 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500]
VAR_015983 commonName VAR_015983
VAR_015983 disease phenotype-associated
VAR_015983 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500]
VAR_015984 commonName VAR_015984
VAR_015984 disease phenotype-associated
VAR_015984 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500]
VAR_015985 commonName VAR_015985
VAR_015985 disease phenotype-associated
VAR_015985 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500]
VAR_015986 commonName VAR_015986
VAR_015986 disease phenotype-associated
VAR_015986 phenoCommon Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
VAR_015987 commonName VAR_015987
VAR_015987 disease phenotype-associated
VAR_015987 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]
VAR_015988 commonName VAR_015988
VAR_015988 disease phenotype-associated
VAR_015988 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]
VAR_015989 commonName VAR_015989
VAR_015989 disease not phenotype-associated
VAR_016004 commonName VAR_016004
VAR_016004 disease phenotype-associated
VAR_016004 phenoCommon Familial hypercholanemia (FHCA) [MIM:607748]
VAR_016005 commonName VAR_016005
VAR_016005 disease not phenotype-associated
VAR_016006 commonName VAR_016006
HbVar.678 protEffect HBD 126(H3) Gln>Glu
VAR_016006 disease not phenotype-associated
VAR_016007 commonName VAR_016007
VAR_016007 disease phenotype-associated
VAR_016007 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016008 commonName VAR_016008
VAR_016008 disease phenotype-associated
VAR_016008 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016009 commonName VAR_016009
VAR_016009 disease phenotype-associated
VAR_016009 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016010 commonName VAR_016010
VAR_016010 disease phenotype-associated
VAR_016010 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016011 commonName VAR_016011
VAR_016011 disease phenotype-associated
VAR_016011 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016012 commonName VAR_016012
VAR_016012 disease phenotype-associated
VAR_016012 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016013 commonName VAR_016013
VAR_016013 disease phenotype-associated
VAR_016013 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016014 commonName VAR_016014
VAR_016014 disease phenotype-associated
VAR_016014 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016015 commonName VAR_016015
VAR_016015 disease phenotype-associated
VAR_016015 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_016016 commonName VAR_016016
VAR_016016 disease phenotype-associated
VAR_016016 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
VAR_016017 commonName VAR_016017
VAR_016017 disease not phenotype-associated
VAR_016018 commonName VAR_016018
VAR_016018 disease phenotype-associated
VAR_016018 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_016019 commonName VAR_016019
VAR_016019 disease phenotype-associated
VAR_016019 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_016020 commonName VAR_016020
VAR_016020 disease phenotype-associated
VAR_016020 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_016020 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]
VAR_016021 commonName VAR_016021
VAR_016021 disease phenotype-associated
VAR_016021 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]
VAR_016022 commonName VAR_016022
VAR_016022 disease phenotype-associated
VAR_016022 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_016023 commonName VAR_016023
VAR_016023 disease phenotype-associated
VAR_016023 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_016024 commonName VAR_016024
VAR_016024 disease not phenotype-associated
VAR_016026 comment Pancreatic carcinoma
VAR_016026 commonName VAR_016026
VAR_016026 disease phenotype-associated
VAR_016026 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_016027 comment Lung cancer
VAR_016027 commonName VAR_016027
VAR_016028 comment Lung carcinoma
VAR_016028 commonName VAR_016028
VAR_016028 disease phenotype-associated
VAR_016028 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_016029 comment A breast carcinoma cell line
VAR_016029 commonName VAR_016029
VAR_016029 disease phenotype-associated
VAR_016029 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_016030 comment Bladder cancer
VAR_016030 commonName VAR_016030
VAR_016030 disease phenotype-associated
VAR_016030 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_016031 commonName VAR_016031
VAR_016031 disease not phenotype-associated
VAR_016032 commonName VAR_016032
VAR_016032 disease phenotype-associated
VAR_016032 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_016033 commonName VAR_016033
VAR_016033 disease phenotype-associated
VAR_016033 phenoCommon Bloom syndrome (BLM) [MIM:210900]
VAR_016034 commonName VAR_016034
VAR_016034 disease phenotype-associated
VAR_016034 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_016035 commonName VAR_016035
VAR_016035 disease phenotype-associated
VAR_016035 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900]
VAR_016036 commonName VAR_016036
VAR_016036 disease phenotype-associated
VAR_016036 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900]
VAR_016037 commonName VAR_016037
VAR_016037 disease phenotype-associated
VAR_016037 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900]
VAR_016039 commonName VAR_016039
VAR_016039 disease not phenotype-associated
VAR_016040 commonName VAR_016040
VAR_016040 disease not phenotype-associated
VAR_016041 commonName VAR_016041
VAR_016041 disease not phenotype-associated
VAR_016042 commonName VAR_016042
VAR_016042 disease not phenotype-associated
VAR_016043 commonName VAR_016043
VAR_016043 disease not phenotype-associated
VAR_016044 commonName VAR_016044
VAR_016044 disease phenotype-associated
VAR_016044 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_016045 commonName VAR_016045
VAR_016045 disease phenotype-associated
VAR_016045 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_016046 commonName VAR_016046
VAR_016046 disease phenotype-associated
VAR_016046 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_016047 commonName VAR_016047
VAR_016047 disease phenotype-associated
VAR_016047 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
VAR_016048 commonName VAR_016048
VAR_016048 disease phenotype-associated
VAR_016048 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_016049 commonName VAR_016049
VAR_016049 disease phenotype-associated
VAR_016049 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_016050 commonName VAR_016050
VAR_016050 disease phenotype-associated
VAR_016050 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_016051 commonName VAR_016051
VAR_016051 disease phenotype-associated
VAR_016051 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_016052 commonName VAR_016052
VAR_016052 disease not phenotype-associated
VAR_016053 commonName VAR_016053
VAR_016053 disease phenotype-associated
VAR_016053 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016054 commonName VAR_016054
VAR_016054 disease phenotype-associated
VAR_016054 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016055 commonName VAR_016055
VAR_016055 disease phenotype-associated
VAR_016055 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016056 commonName VAR_016056
VAR_016056 disease phenotype-associated
VAR_016056 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016057 commonName VAR_016057
VAR_016057 disease phenotype-associated
VAR_016057 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016058 commonName VAR_016058
VAR_016058 disease phenotype-associated
VAR_016058 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016059 commonName VAR_016059
VAR_016059 disease phenotype-associated
VAR_016059 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016060 commonName VAR_016060
VAR_016060 disease phenotype-associated
VAR_016060 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_016061 commonName VAR_016061
VAR_016061 disease not phenotype-associated
VAR_016062 commonName VAR_016062
VAR_016062 disease phenotype-associated
VAR_016062 phenoCommon Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]
VAR_016063 commonName VAR_016063
VAR_016063 disease phenotype-associated
VAR_016063 phenoCommon Enchondromatosis multiple (ENCHOM) [MIM:166000]
VAR_016064 commonName VAR_016064
VAR_016064 disease phenotype-associated
VAR_016064 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]
VAR_016065 commonName VAR_016065
VAR_016065 disease phenotype-associated
VAR_016065 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_016066 commonName VAR_016066
VAR_016066 disease phenotype-associated
VAR_016066 phenoCommon Friedreich ataxia (FRDA) [MIM:229300]
VAR_016067 commonName VAR_016067
VAR_016067 disease phenotype-associated
VAR_016067 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016068 commonName VAR_016068
VAR_016068 disease phenotype-associated
VAR_016068 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016069 commonName VAR_016069
VAR_016069 disease phenotype-associated
VAR_016069 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016070 commonName VAR_016070
VAR_016070 disease phenotype-associated
VAR_016070 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016071 commonName VAR_016071
VAR_016071 disease phenotype-associated
VAR_016071 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016072 commonName VAR_016072
VAR_016072 disease phenotype-associated
VAR_016072 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016073 commonName VAR_016073
VAR_016073 disease phenotype-associated
VAR_016073 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016074 commonName VAR_016074
VAR_016074 disease phenotype-associated
VAR_016074 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016075 commonName VAR_016075
VAR_016075 disease phenotype-associated
VAR_016075 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
VAR_016077 commonName VAR_016077
VAR_016077 disease not phenotype-associated
VAR_016078 commonName VAR_016078
VAR_016078 disease phenotype-associated
VAR_016078 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_016079 commonName VAR_016079
VAR_016079 disease phenotype-associated
VAR_016079 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016080 commonName VAR_016080
VAR_016080 disease phenotype-associated
VAR_016080 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016081 commonName VAR_016081
VAR_016081 disease phenotype-associated
VAR_016081 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016082 commonName VAR_016082
VAR_016082 disease phenotype-associated
VAR_016082 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016083 commonName VAR_016083
VAR_016083 disease phenotype-associated
VAR_016083 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_016083 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016084 commonName VAR_016084
VAR_016084 disease phenotype-associated
VAR_016084 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210]
VAR_016085 commonName VAR_016085
VAR_016085 disease phenotype-associated
VAR_016085 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_016086 commonName VAR_016086
VAR_016086 disease phenotype-associated
VAR_016086 phenoCommon Distal arthrogryposis type 1A (DA1A) [MIM:108120]
VAR_016087 commonName VAR_016087
VAR_016087 disease phenotype-associated
VAR_016087 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_016088 commonName VAR_016088
VAR_016088 disease not phenotype-associated
VAR_016092 commonName VAR_016092
VAR_016092 disease not phenotype-associated
VAR_016093 commonName VAR_016093
VAR_016093 disease not phenotype-associated
VAR_016094 commonName VAR_016094
VAR_016094 disease not phenotype-associated
VAR_016095 commonName VAR_016095
VAR_016095 disease not phenotype-associated
VAR_016097 commonName VAR_016097
VAR_016097 disease not phenotype-associated
VAR_016098 commonName VAR_016098
VAR_016098 disease not phenotype-associated
VAR_016099 commonName VAR_016099
VAR_016099 disease not phenotype-associated
HbVar.678 commonName Hb A2-Zagreb
VAR_016100 commonName VAR_016100
VAR_016100 disease not phenotype-associated
VAR_016101 commonName VAR_016101
VAR_016101 disease not phenotype-associated
VAR_016102 commonName VAR_016102
VAR_016102 disease not phenotype-associated
VAR_016104 commonName VAR_016104
VAR_016104 disease not phenotype-associated
VAR_016105 commonName VAR_016105
VAR_016105 disease not phenotype-associated
VAR_016106 commonName VAR_016106
VAR_016106 disease not phenotype-associated
VAR_016107 commonName VAR_016107
VAR_016107 disease not phenotype-associated
VAR_016108 commonName VAR_016108
VAR_016108 disease not phenotype-associated
VAR_016109 commonName VAR_016109
VAR_016109 disease not phenotype-associated
VAR_016110 commonName VAR_016110
VAR_016110 disease not phenotype-associated
VAR_016111 commonName VAR_016111
VAR_016111 disease not phenotype-associated
VAR_016112 commonName VAR_016112
VAR_016112 disease not phenotype-associated
VAR_016116 commonName VAR_016116
VAR_016116 disease not phenotype-associated
VAR_016117 commonName VAR_016117
VAR_016117 disease not phenotype-associated
VAR_016118 commonName VAR_016118
VAR_016118 disease not phenotype-associated
VAR_016119 commonName VAR_016119
VAR_016119 disease not phenotype-associated
VAR_016120 commonName VAR_016120
VAR_016120 disease not phenotype-associated
VAR_016121 commonName VAR_016121
VAR_016121 disease not phenotype-associated
VAR_016122 commonName VAR_016122
VAR_016122 disease not phenotype-associated
VAR_016123 commonName VAR_016123
VAR_016123 disease not phenotype-associated
VAR_016124 commonName VAR_016124
VAR_016124 disease not phenotype-associated
VAR_016125 commonName VAR_016125
VAR_016125 disease not phenotype-associated
VAR_016126 commonName VAR_016126
VAR_016126 disease not phenotype-associated
VAR_016127 commonName VAR_016127
VAR_016127 disease not phenotype-associated
VAR_016128 commonName VAR_016128
VAR_016128 disease not phenotype-associated
VAR_016129 commonName VAR_016129
VAR_016129 disease not phenotype-associated
VAR_016130 commonName VAR_016130
VAR_016130 disease not phenotype-associated
VAR_016131 commonName VAR_016131
VAR_016131 disease not phenotype-associated
VAR_016132 commonName VAR_016132
VAR_016132 disease not phenotype-associated
VAR_016133 commonName VAR_016133
VAR_016133 disease not phenotype-associated
VAR_016134 commonName VAR_016134
VAR_016134 disease not phenotype-associated
VAR_016136 commonName VAR_016136
VAR_016136 disease not phenotype-associated
VAR_016137 commonName VAR_016137
VAR_016137 disease not phenotype-associated
VAR_016138 commonName VAR_016138
VAR_016138 disease not phenotype-associated
VAR_016139 commonName VAR_016139
VAR_016139 disease not phenotype-associated
VAR_016140 commonName VAR_016140
VAR_016140 disease not phenotype-associated
VAR_016141 commonName VAR_016141
VAR_016141 disease not phenotype-associated
VAR_016142 commonName VAR_016142
VAR_016142 disease not phenotype-associated
VAR_016143 commonName VAR_016143
VAR_016143 disease not phenotype-associated
VAR_016144 commonName VAR_016144
VAR_016144 disease not phenotype-associated
VAR_016145 commonName VAR_016145
VAR_016145 disease not phenotype-associated
VAR_016146 commonName VAR_016146
VAR_016146 disease not phenotype-associated
VAR_016148 commonName VAR_016148
VAR_016148 disease not phenotype-associated
VAR_016149 commonName VAR_016149
VAR_016149 disease not phenotype-associated
VAR_016150 commonName VAR_016150
VAR_016150 disease not phenotype-associated
VAR_016151 commonName VAR_016151
VAR_016151 disease not phenotype-associated
VAR_016152 commonName VAR_016152
VAR_016152 disease not phenotype-associated
VAR_016153 commonName VAR_016153
VAR_016153 disease not phenotype-associated
VAR_016154 commonName VAR_016154
VAR_016154 disease not phenotype-associated
VAR_016155 commonName VAR_016155
VAR_016155 disease not phenotype-associated
VAR_016157 commonName VAR_016157
VAR_016157 disease not phenotype-associated
VAR_016158 commonName VAR_016158
VAR_016158 disease not phenotype-associated
VAR_016159 commonName VAR_016159
VAR_016159 disease not phenotype-associated
VAR_016160 commonName VAR_016160
VAR_016160 disease not phenotype-associated
VAR_016161 commonName VAR_016161
VAR_016161 disease not phenotype-associated
VAR_016162 commonName VAR_016162
VAR_016162 disease not phenotype-associated
VAR_016163 commonName VAR_016163
VAR_016163 disease not phenotype-associated
VAR_016164 commonName VAR_016164
VAR_016164 disease not phenotype-associated
VAR_016165 commonName VAR_016165
VAR_016165 disease not phenotype-associated
VAR_016166 commonName VAR_016166
VAR_016166 disease not phenotype-associated
VAR_016167 commonName VAR_016167
VAR_016167 disease not phenotype-associated
VAR_016170 commonName VAR_016170
VAR_016170 disease not phenotype-associated
VAR_016171 commonName VAR_016171
VAR_016171 disease not phenotype-associated
VAR_016172 commonName VAR_016172
VAR_016172 disease not phenotype-associated
VAR_016173 commonName VAR_016173
VAR_016173 disease not phenotype-associated
VAR_016174 commonName VAR_016174
VAR_016174 disease not phenotype-associated
VAR_016177 commonName VAR_016177
VAR_016177 disease not phenotype-associated
VAR_016178 commonName VAR_016178
VAR_016178 disease not phenotype-associated
VAR_016179 commonName VAR_016179
VAR_016179 disease not phenotype-associated
VAR_016180 commonName VAR_016180
VAR_016180 disease not phenotype-associated
VAR_016181 commonName VAR_016181
VAR_016181 disease not phenotype-associated
VAR_016182 commonName VAR_016182
VAR_016182 disease not phenotype-associated
VAR_016183 commonName VAR_016183
VAR_016183 disease not phenotype-associated
VAR_016189 commonName VAR_016189
VAR_016189 disease not phenotype-associated
VAR_016190 commonName VAR_016190
VAR_016190 disease not phenotype-associated
VAR_016191 commonName VAR_016191
VAR_016191 disease not phenotype-associated
VAR_016192 commonName VAR_016192
VAR_016192 disease not phenotype-associated
VAR_016193 commonName VAR_016193
VAR_016193 disease not phenotype-associated
VAR_016194 commonName VAR_016194
VAR_016194 disease not phenotype-associated
VAR_016200 commonName VAR_016200
VAR_016200 disease not phenotype-associated
VAR_016201 commonName VAR_016201
VAR_016201 disease not phenotype-associated
VAR_016202 commonName VAR_016202
VAR_016202 disease not phenotype-associated
VAR_016203 commonName VAR_016203
VAR_016203 disease phenotype-associated
VAR_016203 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
VAR_016205 commonName VAR_016205
VAR_016205 disease phenotype-associated
VAR_016205 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]
VAR_016206 commonName VAR_016206
VAR_016206 disease not phenotype-associated
VAR_016207 commonName VAR_016207
VAR_016207 disease phenotype-associated
VAR_016207 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_016208 commonName VAR_016208
VAR_016208 disease phenotype-associated
VAR_016208 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_016210 commonName VAR_016210
VAR_016210 disease phenotype-associated
VAR_016210 phenoCommon Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]
VAR_016211 commonName VAR_016211
VAR_016211 disease phenotype-associated
VAR_016211 phenoCommon Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]
VAR_016212 commonName VAR_016212
VAR_016212 disease phenotype-associated
VAR_016212 phenoCommon Neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107]
VAR_016213 commonName VAR_016213
VAR_016213 disease phenotype-associated
VAR_016213 phenoCommon Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]
VAR_016214 commonName VAR_016214
VAR_016214 disease phenotype-associated
VAR_016214 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016215 commonName VAR_016215
VAR_016215 disease phenotype-associated
VAR_016215 phenoCommon Frontotemporal dementia (FTD) [MIM:600274]
VAR_016216 commonName VAR_016216
VAR_016216 disease phenotype-associated
VAR_016216 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016217 commonName VAR_016217
VAR_016217 disease phenotype-associated
VAR_016217 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016218 commonName VAR_016218
VAR_016218 disease phenotype-associated
VAR_016218 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016219 commonName VAR_016219
VAR_016219 disease phenotype-associated
VAR_016219 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016220 commonName VAR_016220
VAR_016220 disease phenotype-associated
VAR_016220 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_016221 commonName VAR_016221
VAR_016221 disease not phenotype-associated
VAR_016222 commonName VAR_016222
VAR_016222 disease phenotype-associated
VAR_016222 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655]
VAR_016223 commonName VAR_016223
VAR_016223 disease phenotype-associated
VAR_016223 phenoCommon Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]
VAR_016224 commonName VAR_016224
VAR_016224 disease not phenotype-associated
VAR_016225 commonName VAR_016225
VAR_016225 disease phenotype-associated
VAR_016225 phenoCommon Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]
VAR_016227 commonName VAR_016227
VAR_016227 disease not phenotype-associated
VAR_016228 commonName VAR_016228
VAR_016228 disease not phenotype-associated
VAR_016229 commonName VAR_016229
VAR_016229 disease not phenotype-associated
VAR_016230 commonName VAR_016230
VAR_016230 disease not phenotype-associated
VAR_016232 commonName VAR_016232
VAR_016232 disease not phenotype-associated
VAR_016233 commonName VAR_016233
VAR_016233 disease not phenotype-associated
VAR_016234 commonName VAR_016234
VAR_016234 disease not phenotype-associated
VAR_016235 commonName VAR_016235
VAR_016235 disease phenotype-associated
VAR_016235 phenoCommon Fucosidosis (FUCA1D) [MIM:230000]
VAR_016236 commonName VAR_016236
VAR_016236 disease not phenotype-associated
VAR_016237 commonName VAR_016237
VAR_016237 disease not phenotype-associated
VAR_016238 commonName VAR_016238
VAR_016238 disease not phenotype-associated
VAR_016240 commonName VAR_016240
VAR_016240 disease not phenotype-associated
VAR_016241 commonName VAR_016241
VAR_016241 disease not phenotype-associated
VAR_016244 commonName VAR_016244
VAR_016244 disease not phenotype-associated
VAR_016245 commonName VAR_016245
VAR_016245 disease not phenotype-associated
VAR_016246 commonName VAR_016246
VAR_016246 disease not phenotype-associated
VAR_016247 commonName VAR_016247
VAR_016247 disease not phenotype-associated
VAR_016248 commonName VAR_016248
VAR_016248 disease not phenotype-associated
VAR_016249 commonName VAR_016249
VAR_016249 disease not phenotype-associated
VAR_016250 commonName VAR_016250
VAR_016250 disease not phenotype-associated
VAR_016251 commonName VAR_016251
VAR_016251 disease not phenotype-associated
VAR_016253 commonName VAR_016253
VAR_016253 disease not phenotype-associated
VAR_016254 commonName VAR_016254
VAR_016254 disease not phenotype-associated
VAR_016255 commonName VAR_016255
VAR_016255 disease not phenotype-associated
VAR_016257 commonName VAR_016257
VAR_016257 disease not phenotype-associated
VAR_016258 commonName VAR_016258
VAR_016258 disease not phenotype-associated
VAR_016261 commonName VAR_016261
VAR_016261 disease not phenotype-associated
VAR_016262 commonName VAR_016262
VAR_016262 disease not phenotype-associated
VAR_016263 commonName VAR_016263
VAR_016263 disease not phenotype-associated
VAR_016265 commonName VAR_016265
VAR_016265 disease not phenotype-associated
VAR_016266 commonName VAR_016266
VAR_016266 disease not phenotype-associated
VAR_016267 commonName VAR_016267
VAR_016267 disease not phenotype-associated
VAR_016268 commonName VAR_016268
VAR_016268 disease not phenotype-associated
VAR_016269 commonName VAR_016269
VAR_016269 disease not phenotype-associated
VAR_016270 commonName VAR_016270
VAR_016270 disease not phenotype-associated
VAR_016271 commonName VAR_016271
VAR_016271 disease not phenotype-associated
VAR_016272 commonName VAR_016272
VAR_016272 disease not phenotype-associated
VAR_016273 commonName VAR_016273
VAR_016273 disease not phenotype-associated
VAR_016279 commonName VAR_016279
VAR_016279 disease not phenotype-associated
VAR_016280 commonName VAR_016280
VAR_016280 disease not phenotype-associated
VAR_016281 commonName VAR_016281
VAR_016281 disease not phenotype-associated
VAR_016282 commonName VAR_016282
VAR_016282 disease not phenotype-associated
VAR_016283 commonName VAR_016283
VAR_016283 disease not phenotype-associated
VAR_016284 commonName VAR_016284
VAR_016284 disease not phenotype-associated
VAR_016287 commonName VAR_016287
VAR_016287 disease not phenotype-associated
VAR_016288 commonName VAR_016288
VAR_016288 disease not phenotype-associated
VAR_016289 commonName VAR_016289
VAR_016289 disease not phenotype-associated
VAR_016290 commonName VAR_016290
VAR_016290 disease not phenotype-associated
VAR_016291 commonName VAR_016291
VAR_016291 disease not phenotype-associated
VAR_016292 commonName VAR_016292
VAR_016292 disease not phenotype-associated
VAR_016293 commonName VAR_016293
VAR_016293 disease not phenotype-associated
VAR_016294 commonName VAR_016294
VAR_016294 disease not phenotype-associated
VAR_016295 commonName VAR_016295
VAR_016295 disease not phenotype-associated
VAR_016296 commonName VAR_016296
VAR_016296 disease not phenotype-associated
VAR_016297 commonName VAR_016297
VAR_016297 disease not phenotype-associated
VAR_016298 commonName VAR_016298
VAR_016298 disease not phenotype-associated
VAR_016299 commonName VAR_016299
VAR_016299 disease not phenotype-associated
VAR_016300 commonName VAR_016300
VAR_016300 disease not phenotype-associated
VAR_016301 commonName VAR_016301
VAR_016301 disease not phenotype-associated
VAR_016302 commonName VAR_016302
VAR_016302 disease not phenotype-associated
VAR_016312 commonName VAR_016312
VAR_016312 disease not phenotype-associated
VAR_016313 commonName VAR_016313
VAR_016313 disease not phenotype-associated
VAR_016314 commonName VAR_016314
VAR_016314 disease not phenotype-associated
VAR_016315 commonName VAR_016315
VAR_016315 disease not phenotype-associated
VAR_016316 commonName VAR_016316
VAR_016316 disease not phenotype-associated
VAR_016317 commonName VAR_016317
VAR_016317 disease not phenotype-associated
VAR_016319 commonName VAR_016319
VAR_016319 disease not phenotype-associated
VAR_016320 commonName VAR_016320
VAR_016320 disease not phenotype-associated
VAR_016321 commonName VAR_016321
VAR_016321 disease not phenotype-associated
VAR_016322 commonName VAR_016322
VAR_016322 disease not phenotype-associated
VAR_016323 commonName VAR_016323
VAR_016323 disease not phenotype-associated
VAR_016324 commonName VAR_016324
VAR_016324 disease not phenotype-associated
VAR_016325 commonName VAR_016325
VAR_016325 disease not phenotype-associated
VAR_016326 commonName VAR_016326
VAR_016326 disease not phenotype-associated
VAR_016327 commonName VAR_016327
VAR_016327 disease not phenotype-associated
VAR_016328 commonName VAR_016328
VAR_016328 disease not phenotype-associated
VAR_016329 commonName VAR_016329
VAR_016329 disease not phenotype-associated
VAR_016333 commonName VAR_016333
VAR_016333 disease not phenotype-associated
VAR_016334 commonName VAR_016334
VAR_016334 disease not phenotype-associated
VAR_016335 commonName VAR_016335
VAR_016335 disease not phenotype-associated
VAR_016337 commonName VAR_016337
VAR_016337 disease not phenotype-associated
VAR_016338 commonName VAR_016338
VAR_016338 disease not phenotype-associated
VAR_016339 commonName VAR_016339
VAR_016339 disease not phenotype-associated
VAR_016340 commonName VAR_016340
VAR_016340 disease not phenotype-associated
VAR_016601 commonName VAR_016601
VAR_016601 disease phenotype-associated
VAR_016601 phenoCommon Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]
VAR_016602 commonName VAR_016602
VAR_016602 disease not phenotype-associated
VAR_016603 commonName VAR_016603
VAR_016603 disease not phenotype-associated
VAR_016697 commonName VAR_016697
VAR_016697 disease not phenotype-associated
VAR_016756 commonName VAR_016756
VAR_016756 disease not phenotype-associated
VAR_016757 commonName VAR_016757
VAR_016757 disease not phenotype-associated
VAR_016758 commonName VAR_016758
VAR_016758 disease not phenotype-associated
VAR_016759 commonName VAR_016759
VAR_016759 disease not phenotype-associated
VAR_016760 commonName VAR_016760
VAR_016760 disease phenotype-associated
VAR_016760 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016761 commonName VAR_016761
VAR_016761 disease phenotype-associated
VAR_016761 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016762 commonName VAR_016762
VAR_016762 disease phenotype-associated
VAR_016762 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016763 commonName VAR_016763
VAR_016763 disease phenotype-associated
VAR_016763 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016764 commonName VAR_016764
VAR_016764 disease phenotype-associated
VAR_016764 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016765 commonName VAR_016765
VAR_016765 disease phenotype-associated
VAR_016765 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]
VAR_016766 commonName VAR_016766
VAR_016766 disease not phenotype-associated
VAR_016767 commonName VAR_016767
VAR_016767 disease not phenotype-associated
VAR_016768 commonName VAR_016768
VAR_016768 disease not phenotype-associated
VAR_016769 commonName VAR_016769
VAR_016769 disease not phenotype-associated
VAR_016771 commonName VAR_016771
VAR_016771 disease not phenotype-associated
VAR_016772 commonName VAR_016772
VAR_016772 disease not phenotype-associated
VAR_016774 commonName VAR_016774
VAR_016774 disease not phenotype-associated
VAR_016775 commonName VAR_016775
VAR_016775 disease phenotype-associated
VAR_016775 phenoCommon Kartagener syndrome (KTGS) [MIM:244400]
VAR_016776 commonName VAR_016776
VAR_016776 disease not phenotype-associated
VAR_016777 commonName VAR_016777
VAR_016777 disease phenotype-associated
VAR_016777 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041]
VAR_016778 commonName VAR_016778
VAR_016778 disease phenotype-associated
VAR_016778 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016779 commonName VAR_016779
VAR_016779 disease phenotype-associated
VAR_016779 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016780 commonName VAR_016780
VAR_016780 disease phenotype-associated
VAR_016780 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016781 commonName VAR_016781
VAR_016781 disease phenotype-associated
VAR_016781 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016782 commonName VAR_016782
VAR_016782 disease phenotype-associated
VAR_016782 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016783 commonName VAR_016783
VAR_016783 disease phenotype-associated
VAR_016783 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016784 commonName VAR_016784
VAR_016784 disease phenotype-associated
VAR_016784 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016785 commonName VAR_016785
VAR_016785 disease phenotype-associated
VAR_016785 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016786 commonName VAR_016786
VAR_016786 disease phenotype-associated
VAR_016786 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016787 commonName VAR_016787
VAR_016787 disease phenotype-associated
VAR_016787 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016788 commonName VAR_016788
VAR_016788 disease phenotype-associated
VAR_016788 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_016789 commonName VAR_016789
VAR_016789 disease not phenotype-associated
VAR_016790 commonName VAR_016790
VAR_016790 disease phenotype-associated
VAR_016790 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016791 commonName VAR_016791
VAR_016791 disease phenotype-associated
VAR_016791 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016792 commonName VAR_016792
VAR_016792 disease phenotype-associated
VAR_016792 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016793 commonName VAR_016793
VAR_016793 disease phenotype-associated
VAR_016793 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016794 commonName VAR_016794
VAR_016794 disease phenotype-associated
VAR_016794 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016795 commonName VAR_016795
VAR_016795 disease phenotype-associated
VAR_016795 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016796 commonName VAR_016796
VAR_016796 disease phenotype-associated
VAR_016796 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_016804 commonName VAR_016804
VAR_016804 disease phenotype-associated
VAR_016804 phenoCommon Cone-rod dystrophy type 7 (CORD7) [MIM:603649]
VAR_016805 commonName VAR_016805
VAR_016806 commonName VAR_016806
VAR_016806 disease phenotype-associated
VAR_016806 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700]
VAR_016807 commonName VAR_016807
VAR_016807 disease phenotype-associated
VAR_016807 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700]
VAR_016808 commonName VAR_016808
VAR_016808 disease phenotype-associated
VAR_016808 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700]
VAR_016809 commonName VAR_016809
VAR_016809 disease not phenotype-associated
VAR_016810 commonName VAR_016810
VAR_016810 disease phenotype-associated
VAR_016810 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_016811 commonName VAR_016811
VAR_016811 disease not phenotype-associated
VAR_016812 commonName VAR_016812
VAR_016812 disease not phenotype-associated
VAR_016814 commonName VAR_016814
VAR_016814 disease phenotype-associated
VAR_016814 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_016815 commonName VAR_016815
VAR_016815 disease phenotype-associated
VAR_016815 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_016816 commonName VAR_016816
VAR_016816 disease phenotype-associated
VAR_016816 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_016817 commonName VAR_016817
VAR_016817 disease phenotype-associated
VAR_016817 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_016818 commonName VAR_016818
VAR_016818 disease phenotype-associated
VAR_016818 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880]
VAR_016824 commonName VAR_016824
VAR_016824 disease phenotype-associated
VAR_016824 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_016825 commonName VAR_016825
VAR_016826 commonName VAR_016826
VAR_016826 disease phenotype-associated
VAR_016826 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_016827 commonName VAR_016827
VAR_016828 commonName VAR_016828
VAR_016828 disease phenotype-associated
VAR_016828 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_016829 commonName VAR_016829
VAR_016829 disease phenotype-associated
VAR_016829 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_016830 commonName VAR_016830
VAR_016830 disease phenotype-associated
VAR_016830 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_016838 commonName VAR_016838
VAR_016838 disease phenotype-associated
VAR_016838 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500]
VAR_016839 commonName VAR_016839
VAR_016839 disease not phenotype-associated
VAR_016840 commonName VAR_016840
VAR_016840 disease phenotype-associated
VAR_016840 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_016842 commonName VAR_016842
VAR_016842 disease phenotype-associated
VAR_016842 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_016843 commonName VAR_016843
VAR_016843 disease phenotype-associated
VAR_016843 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_016844 commonName VAR_016844
VAR_016844 disease phenotype-associated
VAR_016844 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_016845 commonName VAR_016845
VAR_016845 disease phenotype-associated
VAR_016845 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_016846 commonName VAR_016846
VAR_016846 disease phenotype-associated
VAR_016846 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_016847 commonName VAR_016847
VAR_016847 disease phenotype-associated
VAR_016847 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_016848 commonName VAR_016848
VAR_016848 disease phenotype-associated
VAR_016848 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_016849 commonName VAR_016849
VAR_016849 disease phenotype-associated
VAR_016849 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_016850 commonName VAR_016850
VAR_016851 commonName VAR_016851
VAR_016851 disease phenotype-associated
VAR_016851 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899]
VAR_016852 commonName VAR_016852
VAR_016852 disease not phenotype-associated
VAR_016853 commonName VAR_016853
VAR_016853 disease not phenotype-associated
VAR_016855 commonName VAR_016855
VAR_016855 disease not phenotype-associated
VAR_016856 commonName VAR_016856
VAR_016856 disease not phenotype-associated
VAR_016857 commonName VAR_016857
VAR_016857 disease not phenotype-associated
VAR_016858 commonName VAR_016858
VAR_016858 disease not phenotype-associated
VAR_016864 commonName VAR_016864
VAR_016864 disease phenotype-associated
VAR_016864 phenoCommon Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
VAR_016865 commonName VAR_016865
VAR_016865 disease phenotype-associated
VAR_016865 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_016866 commonName VAR_016866
VAR_016866 disease phenotype-associated
VAR_016866 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_016867 commonName VAR_016867
VAR_016867 disease phenotype-associated
VAR_016867 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_016868 commonName VAR_016868
VAR_016868 disease phenotype-associated
VAR_016868 phenoCommon Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
VAR_016869 commonName VAR_016869
VAR_016869 disease phenotype-associated
VAR_016869 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_016870 commonName VAR_016870
VAR_016870 disease not phenotype-associated
VAR_016871 commonName VAR_016871
VAR_016871 disease not phenotype-associated
VAR_016872 commonName VAR_016872
VAR_016872 disease not phenotype-associated
VAR_016874 commonName VAR_016874
VAR_016874 disease phenotype-associated
VAR_016874 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_016875 commonName VAR_016875
VAR_016875 disease not phenotype-associated
VAR_016876 commonName VAR_016876
VAR_016876 disease not phenotype-associated
VAR_016877 commonName VAR_016877
VAR_016877 disease phenotype-associated
VAR_016877 phenoCommon Retinitis pigmentosa type 18 (RP18) [MIM:601414]
VAR_016880 commonName VAR_016880
VAR_016880 disease phenotype-associated
VAR_016880 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_016881 commonName VAR_016881
VAR_016881 disease phenotype-associated
VAR_016881 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_016882 commonName VAR_016882
VAR_016882 disease phenotype-associated
VAR_016882 phenoCommon Bamforth-Lazarus syndrome (BLS) [MIM:241850]
VAR_016883 commonName VAR_016883
VAR_016883 disease phenotype-associated
VAR_016883 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_016885 commonName VAR_016885
VAR_016885 disease phenotype-associated
VAR_016885 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_016886 commonName VAR_016886
VAR_016886 disease phenotype-associated
VAR_016886 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_016887 commonName VAR_016887
VAR_016887 disease phenotype-associated
VAR_016887 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_016888 commonName VAR_016888
VAR_016888 disease phenotype-associated
VAR_016888 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016889 commonName VAR_016889
VAR_016889 disease phenotype-associated
VAR_016889 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016890 commonName VAR_016890
VAR_016890 disease phenotype-associated
VAR_016890 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016892 commonName VAR_016892
VAR_016892 disease phenotype-associated
VAR_016892 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016893 commonName VAR_016893
VAR_016893 disease phenotype-associated
VAR_016893 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016894 commonName VAR_016894
VAR_016894 disease phenotype-associated
VAR_016894 phenoCommon GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]
VAR_016895 commonName VAR_016895
VAR_016895 disease phenotype-associated
VAR_016895 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016896 commonName VAR_016896
VAR_016896 disease phenotype-associated
VAR_016896 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016897 commonName VAR_016897
VAR_016897 disease phenotype-associated
VAR_016897 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016898 commonName VAR_016898
VAR_016898 disease phenotype-associated
VAR_016898 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_016908 commonName VAR_016908
VAR_016908 disease phenotype-associated
VAR_016908 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400]
VAR_016909 commonName VAR_016909
VAR_016909 disease phenotype-associated
VAR_016909 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400]
VAR_016910 commonName VAR_016910
VAR_016910 disease phenotype-associated
VAR_016910 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400]
VAR_016911 commonName VAR_016911
VAR_016911 disease phenotype-associated
VAR_016911 phenoCommon 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]
VAR_016912 commonName VAR_016912
VAR_016912 disease not phenotype-associated
VAR_016913 commonName VAR_016913
VAR_016913 disease phenotype-associated
VAR_016913 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_016914 commonName VAR_016914
VAR_016914 disease not phenotype-associated
VAR_016915 commonName VAR_016915
VAR_016915 disease not phenotype-associated
VAR_016916 commonName VAR_016916
VAR_016916 disease phenotype-associated
VAR_016916 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
VAR_016917 commonName VAR_016917
VAR_016917 disease not phenotype-associated
VAR_016918 commonName VAR_016918
VAR_016919 commonName VAR_016919
VAR_016920 commonName VAR_016920
VAR_016920 disease not phenotype-associated
VAR_016921 commonName VAR_016921
VAR_016921 disease not phenotype-associated
VAR_016922 commonName VAR_016922
VAR_016922 disease not phenotype-associated
VAR_016924 commonName VAR_016924
VAR_016924 disease not phenotype-associated
VAR_016925 commonName VAR_016925
VAR_016925 disease not phenotype-associated
VAR_016926 commonName VAR_016926
VAR_016926 disease not phenotype-associated
VAR_016927 commonName VAR_016927
VAR_016927 disease not phenotype-associated
VAR_016928 commonName VAR_016928
VAR_016928 disease not phenotype-associated
VAR_016929 commonName VAR_016929
VAR_016929 disease not phenotype-associated
VAR_016930 commonName VAR_016930
VAR_016930 disease phenotype-associated
VAR_016930 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_016931 commonName VAR_016931
VAR_016931 disease phenotype-associated
VAR_016931 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_016932 commonName VAR_016932
VAR_016932 disease phenotype-associated
VAR_016932 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_016933 commonName VAR_016933
VAR_016933 disease phenotype-associated
VAR_016933 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_016934 commonName VAR_016934
VAR_016934 disease phenotype-associated
VAR_016934 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_016935 commonName VAR_016935
VAR_016935 disease phenotype-associated
VAR_016935 phenoCommon Haim-Munk syndrome (HMS) [MIM:245010]
VAR_016935 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_016937 commonName VAR_016937
VAR_016937 disease not phenotype-associated
VAR_016938 commonName VAR_016938
VAR_016938 disease not phenotype-associated
VAR_016939 commonName VAR_016939
VAR_016939 disease not phenotype-associated
VAR_016940 commonName VAR_016940
VAR_016940 disease not phenotype-associated
VAR_016941 commonName VAR_016941
VAR_016941 disease not phenotype-associated
VAR_016942 commonName VAR_016942
VAR_016942 disease not phenotype-associated
VAR_016943 commonName VAR_016943
VAR_016943 disease not phenotype-associated
VAR_016947 commonName VAR_016947
VAR_016947 disease not phenotype-associated
VAR_016948 commonName VAR_016948
VAR_016948 disease not phenotype-associated
VAR_016949 commonName VAR_016949
VAR_016949 disease phenotype-associated
VAR_016949 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
VAR_016951 commonName VAR_016951
VAR_016951 disease phenotype-associated
VAR_016951 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
VAR_016952 commonName VAR_016952
VAR_016952 disease phenotype-associated
VAR_016952 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
VAR_016953 commonName VAR_016953
VAR_016953 disease phenotype-associated
VAR_016953 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
VAR_016954 commonName VAR_016954
VAR_016954 disease phenotype-associated
VAR_016954 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
VAR_016962 commonName VAR_016962
VAR_016962 disease phenotype-associated
VAR_016962 phenoCommon Aromatase deficiency (AROD) [MIM:613546]
VAR_016963 commonName VAR_016963
VAR_016963 disease phenotype-associated
VAR_016963 phenoCommon Aromatase deficiency (AROD) [MIM:613546]
VAR_016966 commonName VAR_016966
VAR_016966 disease phenotype-associated
VAR_016966 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
VAR_016967 commonName VAR_016967
VAR_016967 disease phenotype-associated
VAR_016967 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
VAR_016969 commonName VAR_016969
VAR_016969 disease phenotype-associated
VAR_016969 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
VAR_016975 commonName VAR_016975
VAR_016975 disease phenotype-associated
VAR_016975 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_016976 commonName VAR_016976
VAR_016976 disease not phenotype-associated
VAR_016977 commonName VAR_016977
VAR_016977 disease phenotype-associated
VAR_016977 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_016978 commonName VAR_016978
VAR_016978 disease phenotype-associated
VAR_016978 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_016979 commonName VAR_016979
VAR_016979 disease phenotype-associated
VAR_016979 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_016980 commonName VAR_016980
VAR_016980 disease phenotype-associated
VAR_016980 phenoCommon Char syndrome (CHAR) [MIM:169100]
VAR_016981 commonName VAR_016981
VAR_016981 disease not phenotype-associated
VAR_016982 commonName VAR_016982
VAR_016982 disease phenotype-associated
VAR_016982 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_016983 commonName VAR_016983
VAR_016983 disease phenotype-associated
VAR_016983 phenoCommon Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]
VAR_016984 commonName VAR_016984
VAR_016984 disease not phenotype-associated
VAR_016985 commonName VAR_016985
VAR_016985 disease not phenotype-associated
VAR_016986 commonName VAR_016986
VAR_016986 disease not phenotype-associated
VAR_016988 commonName VAR_016988
VAR_016988 disease not phenotype-associated
VAR_016989 commonName VAR_016989
VAR_016989 disease not phenotype-associated
VAR_016990 commonName VAR_016990
VAR_016990 disease not phenotype-associated
VAR_016991 commonName VAR_016991
VAR_016991 disease not phenotype-associated
VAR_016992 commonName VAR_016992
VAR_016992 disease not phenotype-associated
VAR_016993 commonName VAR_016993
VAR_016993 disease not phenotype-associated
VAR_016994 commonName VAR_016994
VAR_016994 disease not phenotype-associated
VAR_016995 commonName VAR_016995
VAR_016995 disease not phenotype-associated
VAR_016996 commonName VAR_016996
VAR_016996 disease not phenotype-associated
VAR_016997 commonName VAR_016997
VAR_016997 disease not phenotype-associated
VAR_016998 commonName VAR_016998
VAR_016998 disease not phenotype-associated
VAR_016999 commonName VAR_016999
VAR_016999 disease not phenotype-associated
VAR_017000 commonName VAR_017000
VAR_017000 disease not phenotype-associated
VAR_017001 commonName VAR_017001
VAR_017001 disease not phenotype-associated
VAR_017002 commonName VAR_017002
VAR_017002 disease not phenotype-associated
VAR_017003 commonName VAR_017003
VAR_017003 disease not phenotype-associated
VAR_017004 commonName VAR_017004
VAR_017004 disease not phenotype-associated
VAR_017005 commonName VAR_017005
VAR_017005 disease not phenotype-associated
VAR_017006 commonName VAR_017006
VAR_017006 disease not phenotype-associated
VAR_017007 commonName VAR_017007
VAR_017008 commonName VAR_017008
VAR_017008 disease not phenotype-associated
VAR_017009 commonName VAR_017009
VAR_017009 disease not phenotype-associated
VAR_017010 commonName VAR_017010
VAR_017010 disease not phenotype-associated
VAR_017012 commonName VAR_017012
VAR_017012 disease not phenotype-associated
VAR_017013 commonName VAR_017013
VAR_017013 disease not phenotype-associated
VAR_017014 commonName VAR_017014
VAR_017014 disease not phenotype-associated
VAR_017015 commonName VAR_017015
VAR_017015 disease not phenotype-associated
VAR_017016 commonName VAR_017016
VAR_017017 commonName VAR_017017
VAR_017017 disease not phenotype-associated
VAR_017018 commonName VAR_017018
VAR_017018 disease not phenotype-associated
VAR_017019 commonName VAR_017019
VAR_017019 disease not phenotype-associated
VAR_017020 commonName VAR_017020
VAR_017020 disease not phenotype-associated
VAR_017021 commonName VAR_017021
VAR_017021 disease not phenotype-associated
VAR_017022 commonName VAR_017022
VAR_017022 disease not phenotype-associated
VAR_017024 commonName VAR_017024
VAR_017024 disease not phenotype-associated
VAR_017025 commonName VAR_017025
VAR_017025 disease not phenotype-associated
VAR_017026 commonName VAR_017026
VAR_017026 disease not phenotype-associated
VAR_017027 commonName VAR_017027
VAR_017027 disease not phenotype-associated
VAR_017028 commonName VAR_017028
VAR_017028 disease not phenotype-associated
VAR_017029 commonName VAR_017029
VAR_017029 disease not phenotype-associated
VAR_017030 commonName VAR_017030
VAR_017030 disease not phenotype-associated
VAR_017031 commonName VAR_017031
VAR_017031 disease phenotype-associated
VAR_017031 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105]
VAR_017032 commonName VAR_017032
VAR_017032 disease phenotype-associated
VAR_017032 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105]
VAR_017033 commonName VAR_017033
VAR_017033 disease phenotype-associated
VAR_017033 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105]
VAR_017034 commonName VAR_017034
VAR_017034 disease phenotype-associated
VAR_017034 phenoCommon Retinitis pigmentosa type 44 (RP44) [MIM:613769]
VAR_017035 commonName VAR_017035
VAR_017035 disease phenotype-associated
VAR_017035 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017036 commonName VAR_017036
VAR_017036 disease phenotype-associated
VAR_017036 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017037 commonName VAR_017037
VAR_017037 disease phenotype-associated
VAR_017037 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017038 commonName VAR_017038
VAR_017038 disease phenotype-associated
VAR_017038 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017039 commonName VAR_017039
VAR_017039 disease phenotype-associated
VAR_017039 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017040 commonName VAR_017040
VAR_017040 disease phenotype-associated
VAR_017040 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017041 commonName VAR_017041
VAR_017041 disease phenotype-associated
VAR_017041 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017042 commonName VAR_017042
VAR_017042 disease phenotype-associated
VAR_017042 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_017043 commonName VAR_017043
VAR_017043 disease not phenotype-associated
VAR_017049 commonName VAR_017049
VAR_017049 disease phenotype-associated
VAR_017049 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
VAR_017050 commonName VAR_017050
VAR_017050 disease phenotype-associated
VAR_017050 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
VAR_017055 commonName VAR_017055
VAR_017055 disease not phenotype-associated
VAR_017056 commonName VAR_017056
VAR_017056 disease not phenotype-associated
VAR_017057 commonName VAR_017057
VAR_017057 disease not phenotype-associated
VAR_017058 commonName VAR_017058
VAR_017058 disease not phenotype-associated
VAR_017059 commonName VAR_017059
VAR_017059 disease not phenotype-associated
VAR_017060 commonName VAR_017060
VAR_017060 disease phenotype-associated
VAR_017060 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
VAR_017061 commonName VAR_017061
VAR_017061 disease phenotype-associated
VAR_017061 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
VAR_017062 commonName VAR_017062
VAR_017062 disease phenotype-associated
VAR_017062 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]
VAR_017063 commonName VAR_017063
VAR_017063 disease not phenotype-associated
VAR_017064 commonName VAR_017064
VAR_017065 commonName VAR_017065
VAR_017065 disease phenotype-associated
VAR_017065 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017066 commonName VAR_017066
VAR_017066 disease phenotype-associated
VAR_017066 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017067 commonName VAR_017067
VAR_017067 disease phenotype-associated
VAR_017067 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017068 commonName VAR_017068
VAR_017068 disease phenotype-associated
VAR_017068 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_017070 commonName VAR_017070
VAR_017070 disease phenotype-associated
VAR_017070 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_017071 commonName VAR_017071
VAR_017071 disease phenotype-associated
VAR_017071 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_017073 commonName VAR_017073
VAR_017073 disease phenotype-associated
VAR_017073 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_017074 commonName VAR_017074
VAR_017074 disease phenotype-associated
VAR_017074 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_017075 commonName VAR_017075
VAR_017075 disease phenotype-associated
VAR_017075 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017076 commonName VAR_017076
VAR_017076 disease phenotype-associated
VAR_017076 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017077 commonName VAR_017077
VAR_017077 disease phenotype-associated
VAR_017077 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200]
VAR_017078 commonName VAR_017078
VAR_017078 disease phenotype-associated
VAR_017078 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017079 commonName VAR_017079
VAR_017079 disease phenotype-associated
VAR_017079 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017080 commonName VAR_017080
VAR_017080 disease phenotype-associated
VAR_017080 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017081 commonName VAR_017081
VAR_017081 disease phenotype-associated
VAR_017081 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017082 commonName VAR_017082
VAR_017082 disease phenotype-associated
VAR_017082 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017083 commonName VAR_017083
VAR_017083 disease phenotype-associated
VAR_017083 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017084 commonName VAR_017084
VAR_017084 disease phenotype-associated
VAR_017084 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017085 commonName VAR_017085
VAR_017085 disease phenotype-associated
VAR_017085 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017086 commonName VAR_017086
VAR_017086 disease phenotype-associated
VAR_017086 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017087 commonName VAR_017087
VAR_017087 disease phenotype-associated
VAR_017087 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017088 commonName VAR_017088
VAR_017088 disease phenotype-associated
VAR_017088 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017089 commonName VAR_017089
VAR_017089 disease phenotype-associated
VAR_017089 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017090 commonName VAR_017090
VAR_017090 disease phenotype-associated
VAR_017090 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017091 commonName VAR_017091
VAR_017091 disease phenotype-associated
VAR_017091 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017092 commonName VAR_017092
VAR_017092 disease phenotype-associated
VAR_017092 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017093 commonName VAR_017093
VAR_017093 disease phenotype-associated
VAR_017093 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
VAR_017094 commonName VAR_017094
VAR_017094 disease phenotype-associated
VAR_017094 phenoCommon Immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:608106]
VAR_017095 commonName VAR_017095
VAR_017095 disease not phenotype-associated
VAR_017098 commonName VAR_017098
VAR_017098 disease not phenotype-associated
VAR_017099 commonName VAR_017099
VAR_017099 disease not phenotype-associated
VAR_017100 commonName VAR_017100
VAR_017100 disease not phenotype-associated
VAR_017101 commonName VAR_017101
VAR_017101 disease not phenotype-associated
VAR_017102 commonName VAR_017102
VAR_017102 disease phenotype-associated
VAR_017102 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_017103 commonName VAR_017103
VAR_017103 disease phenotype-associated
VAR_017103 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_017104 commonName VAR_017104
VAR_017104 disease not phenotype-associated
VAR_017105 commonName VAR_017105
VAR_017105 disease phenotype-associated
VAR_017105 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_017106 commonName VAR_017106
VAR_017106 disease not phenotype-associated
VAR_017108 commonName VAR_017108
VAR_017108 disease not phenotype-associated
VAR_017109 commonName VAR_017109
VAR_017109 disease not phenotype-associated
VAR_017110 commonName VAR_017110
VAR_017110 disease not phenotype-associated
VAR_017111 commonName VAR_017111
VAR_017111 disease not phenotype-associated
VAR_017113 commonName VAR_017113
VAR_017113 disease not phenotype-associated
VAR_017115 commonName VAR_017115
VAR_017115 disease not phenotype-associated
VAR_017117 commonName VAR_017117
VAR_017117 disease not phenotype-associated
VAR_017118 commonName VAR_017118
VAR_017118 disease not phenotype-associated
VAR_017119 commonName VAR_017119
VAR_017119 disease not phenotype-associated
VAR_017120 commonName VAR_017120
VAR_017120 disease not phenotype-associated
VAR_017121 commonName VAR_017121
VAR_017121 disease not phenotype-associated
VAR_017122 commonName VAR_017122
VAR_017122 disease phenotype-associated
VAR_017122 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050]
VAR_017125 commonName VAR_017125
VAR_017125 disease not phenotype-associated
VAR_017126 commonName VAR_017126
VAR_017126 disease phenotype-associated
VAR_017126 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017127 commonName VAR_017127
VAR_017127 disease phenotype-associated
VAR_017127 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017128 commonName VAR_017128
VAR_017128 disease phenotype-associated
VAR_017128 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017129 commonName VAR_017129
VAR_017129 disease phenotype-associated
VAR_017129 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017130 commonName VAR_017130
VAR_017130 disease phenotype-associated
VAR_017130 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_017131 commonName VAR_017131
VAR_017131 disease phenotype-associated
VAR_017131 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017132 commonName VAR_017132
VAR_017132 disease phenotype-associated
VAR_017132 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_017133 commonName VAR_017133
VAR_017133 disease phenotype-associated
VAR_017133 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017134 commonName VAR_017134
VAR_017134 disease phenotype-associated
VAR_017134 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017135 commonName VAR_017135
VAR_017135 disease phenotype-associated
VAR_017135 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017136 commonName VAR_017136
VAR_017136 disease phenotype-associated
VAR_017136 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017137 commonName VAR_017137
VAR_017137 disease phenotype-associated
VAR_017137 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_017138 commonName VAR_017138
VAR_017138 disease phenotype-associated
VAR_017138 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017139 commonName VAR_017139
VAR_017139 disease phenotype-associated
VAR_017139 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_017140 commonName VAR_017140
VAR_017140 disease phenotype-associated
VAR_017140 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017141 commonName VAR_017141
VAR_017141 disease phenotype-associated
VAR_017141 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_017142 commonName VAR_017142
VAR_017142 disease phenotype-associated
VAR_017142 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_017143 commonName VAR_017143
VAR_017143 disease phenotype-associated
VAR_017143 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_017144 commonName VAR_017144
VAR_017144 disease phenotype-associated
VAR_017144 phenoCommon Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250]
VAR_017145 commonName VAR_017145
VAR_017146 commonName VAR_017146
VAR_017146 disease phenotype-associated
VAR_017146 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_017147 commonName VAR_017147
VAR_017147 disease phenotype-associated
VAR_017147 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_017148 commonName VAR_017148
VAR_017148 disease phenotype-associated
VAR_017148 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_017149 commonName VAR_017149
VAR_017149 disease phenotype-associated
VAR_017149 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_017150 commonName VAR_017150
VAR_017150 disease not phenotype-associated
VAR_017151 commonName VAR_017151
VAR_017151 disease not phenotype-associated
VAR_017152 commonName VAR_017152
VAR_017152 disease not phenotype-associated
VAR_017153 commonName VAR_017153
VAR_017153 disease phenotype-associated
VAR_017153 phenoCommon Cutis laxa, autosomal recessive, type 1A (ARCL1A) [MIM:219100]
VAR_017154 commonName VAR_017154
VAR_017154 disease not phenotype-associated
VAR_017155 commonName VAR_017155
VAR_017155 disease not phenotype-associated
VAR_017156 commonName VAR_017156
VAR_017156 disease not phenotype-associated
VAR_017157 commonName VAR_017157
VAR_017157 disease not phenotype-associated
VAR_017158 commonName VAR_017158
VAR_017158 disease not phenotype-associated
VAR_017159 commonName VAR_017159
VAR_017159 disease not phenotype-associated
VAR_017160 commonName VAR_017160
VAR_017160 disease not phenotype-associated
VAR_017164 commonName VAR_017164
VAR_017164 disease phenotype-associated
VAR_017164 phenoCommon Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]
VAR_017171 commonName VAR_017171
VAR_017171 disease not phenotype-associated
VAR_017172 commonName VAR_017172
VAR_017172 disease not phenotype-associated
VAR_017173 commonName VAR_017173
VAR_017173 disease not phenotype-associated
VAR_017174 commonName VAR_017174
VAR_017174 disease not phenotype-associated
VAR_017175 commonName VAR_017175
VAR_017175 disease phenotype-associated
VAR_017175 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
VAR_017176 commonName VAR_017176
VAR_017176 disease not phenotype-associated
VAR_017177 commonName VAR_017177
VAR_017177 disease not phenotype-associated
VAR_017178 commonName VAR_017178
VAR_017178 disease not phenotype-associated
VAR_017182 commonName VAR_017182
VAR_017182 disease not phenotype-associated
VAR_017183 commonName VAR_017183
VAR_017183 disease not phenotype-associated
VAR_017184 commonName VAR_017184
VAR_017184 disease phenotype-associated
VAR_017184 phenoCommon Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]
VAR_017185 commonName VAR_017185
VAR_017185 disease phenotype-associated
VAR_017185 phenoCommon Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]
VAR_017188 commonName VAR_017188
VAR_017188 disease phenotype-associated
VAR_017188 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_017189 commonName VAR_017189
VAR_017189 disease phenotype-associated
VAR_017189 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_017190 commonName VAR_017190
VAR_017190 disease not phenotype-associated
VAR_017191 commonName VAR_017191
VAR_017191 disease not phenotype-associated
VAR_017192 commonName VAR_017192
VAR_017192 disease not phenotype-associated
VAR_017193 commonName VAR_017193
VAR_017193 disease not phenotype-associated
VAR_017194 commonName VAR_017194
VAR_017194 disease not phenotype-associated
VAR_017195 commonName VAR_017195
VAR_017195 disease not phenotype-associated
VAR_017196 commonName VAR_017196
VAR_017196 disease not phenotype-associated
VAR_017197 commonName VAR_017197
VAR_017197 disease not phenotype-associated
VAR_017198 commonName VAR_017198
VAR_017198 disease not phenotype-associated
VAR_017199 commonName VAR_017199
VAR_017199 disease phenotype-associated
VAR_017199 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_017200 commonName VAR_017200
VAR_017200 disease phenotype-associated
VAR_017200 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_017201 commonName VAR_017201
VAR_017201 disease not phenotype-associated
VAR_017202 commonName VAR_017202
VAR_017202 disease phenotype-associated
VAR_017202 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_017203 commonName VAR_017203
VAR_017203 disease not phenotype-associated
VAR_017204 commonName VAR_017204
VAR_017204 disease phenotype-associated
VAR_017204 phenoCommon Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
VAR_017209 commonName VAR_017209
VAR_017209 disease phenotype-associated
VAR_017209 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500]
VAR_017210 commonName VAR_017210
VAR_017210 disease not phenotype-associated
VAR_017212 commonName VAR_017212
VAR_017212 disease phenotype-associated
VAR_017212 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
VAR_017213 commonName VAR_017213
VAR_017213 disease phenotype-associated
VAR_017213 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
VAR_017215 commonName VAR_017215
VAR_017215 disease phenotype-associated
VAR_017215 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_017216 commonName VAR_017216
VAR_017216 disease phenotype-associated
VAR_017216 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_017218 commonName VAR_017218
VAR_017218 disease phenotype-associated
VAR_017218 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017219 commonName VAR_017219
VAR_017219 disease phenotype-associated
VAR_017219 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017220 commonName VAR_017220
VAR_017220 disease phenotype-associated
VAR_017220 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017221 commonName VAR_017221
VAR_017221 disease phenotype-associated
VAR_017221 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017222 commonName VAR_017222
VAR_017222 disease phenotype-associated
VAR_017222 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017223 commonName VAR_017223
VAR_017223 disease phenotype-associated
VAR_017223 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017224 commonName VAR_017224
VAR_017224 disease phenotype-associated
VAR_017224 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017225 commonName VAR_017225
VAR_017225 disease phenotype-associated
VAR_017225 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017226 commonName VAR_017226
VAR_017226 disease phenotype-associated
VAR_017226 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
VAR_017227 commonName VAR_017227
VAR_017227 disease not phenotype-associated
VAR_017228 commonName VAR_017228
VAR_017228 disease phenotype-associated
VAR_017228 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017229 commonName VAR_017229
VAR_017229 disease phenotype-associated
VAR_017229 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017230 commonName VAR_017230
VAR_017230 disease phenotype-associated
VAR_017230 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017231 commonName VAR_017231
VAR_017231 disease phenotype-associated
VAR_017231 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017232 commonName VAR_017232
VAR_017232 disease phenotype-associated
VAR_017232 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017233 commonName VAR_017233
VAR_017233 disease phenotype-associated
VAR_017233 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017234 commonName VAR_017234
VAR_017234 disease phenotype-associated
VAR_017234 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017235 commonName VAR_017235
VAR_017235 disease phenotype-associated
VAR_017235 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017236 commonName VAR_017236
VAR_017236 disease phenotype-associated
VAR_017236 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017237 commonName VAR_017237
VAR_017237 disease phenotype-associated
VAR_017237 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250]
VAR_017238 comment Ovarian cancer
VAR_017238 commonName VAR_017238
VAR_017239 comment Renal cell carcinoma cell line
VAR_017239 commonName VAR_017239
VAR_017240 commonName VAR_017240
VAR_017240 disease not phenotype-associated
VAR_017242 commonName VAR_017242
VAR_017242 disease not phenotype-associated
VAR_017243 commonName VAR_017243
VAR_017243 disease phenotype-associated
VAR_017243 phenoCommon Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]
VAR_017244 commonName VAR_017244
VAR_017244 disease phenotype-associated
VAR_017244 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
VAR_017245 commonName VAR_017245
VAR_017245 disease phenotype-associated
VAR_017245 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
VAR_017246 commonName VAR_017246
VAR_017246 disease not phenotype-associated
VAR_017248 commonName VAR_017248
VAR_017248 disease not phenotype-associated
VAR_017249 commonName VAR_017249
VAR_017249 disease not phenotype-associated
VAR_017250 commonName VAR_017250
VAR_017250 disease not phenotype-associated
VAR_017251 commonName VAR_017251
VAR_017251 disease not phenotype-associated
VAR_017252 commonName VAR_017252
VAR_017252 disease phenotype-associated
VAR_017252 phenoCommon Retinitis pigmentosa type 9 (RP9) [MIM:180104]
VAR_017253 commonName VAR_017253
VAR_017253 disease phenotype-associated
VAR_017253 phenoCommon Retinitis pigmentosa type 9 (RP9) [MIM:180104]
VAR_017254 commonName VAR_017254
VAR_017254 disease not phenotype-associated
VAR_017255 commonName VAR_017255
VAR_017255 disease phenotype-associated
VAR_017255 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_017256 commonName VAR_017256
VAR_017256 disease phenotype-associated
VAR_017256 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_017257 commonName VAR_017257
VAR_017257 disease phenotype-associated
VAR_017257 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_017258 commonName VAR_017258
VAR_017258 disease not phenotype-associated
VAR_017259 commonName VAR_017259
VAR_017259 disease phenotype-associated
VAR_017259 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017260 commonName VAR_017260
VAR_017260 disease not phenotype-associated
VAR_017261 commonName VAR_017261
VAR_017261 disease phenotype-associated
VAR_017261 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017263 commonName VAR_017263
VAR_017263 disease phenotype-associated
VAR_017263 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017264 commonName VAR_017264
VAR_017264 disease phenotype-associated
VAR_017264 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017265 commonName VAR_017265
VAR_017265 disease phenotype-associated
VAR_017265 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017266 commonName VAR_017266
VAR_017266 disease phenotype-associated
VAR_017266 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017267 commonName VAR_017267
VAR_017268 commonName VAR_017268
VAR_017268 disease phenotype-associated
VAR_017268 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017269 commonName VAR_017269
VAR_017269 disease phenotype-associated
VAR_017269 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017270 commonName VAR_017270
VAR_017270 disease phenotype-associated
VAR_017270 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017271 commonName VAR_017271
VAR_017271 disease phenotype-associated
VAR_017271 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017272 commonName VAR_017272
VAR_017272 disease phenotype-associated
VAR_017272 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017273 commonName VAR_017273
VAR_017273 disease phenotype-associated
VAR_017273 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017274 commonName VAR_017274
VAR_017274 disease phenotype-associated
VAR_017274 phenoCommon Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]
VAR_017275 commonName VAR_017275
VAR_017275 disease phenotype-associated
VAR_017275 phenoCommon Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]
VAR_017275 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017276 commonName VAR_017276
VAR_017276 disease phenotype-associated
VAR_017276 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017277 commonName VAR_017277
VAR_017277 disease phenotype-associated
VAR_017277 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017278 commonName VAR_017278
VAR_017278 disease phenotype-associated
VAR_017278 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017279 commonName VAR_017279
VAR_017280 commonName VAR_017280
VAR_017280 disease phenotype-associated
VAR_017280 phenoCommon Pfeiffer syndrome (PS) [MIM:101600]
VAR_017281 commonName VAR_017281
VAR_017281 disease phenotype-associated
VAR_017281 phenoCommon Crouzon syndrome (CS) [MIM:123500]
VAR_017282 commonName VAR_017282
VAR_017282 disease phenotype-associated
VAR_017282 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017283 commonName VAR_017283
VAR_017283 disease phenotype-associated
VAR_017283 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017284 commonName VAR_017284
VAR_017284 disease phenotype-associated
VAR_017284 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_017285 commonName VAR_017285
VAR_017285 disease phenotype-associated
VAR_017285 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017287 commonName VAR_017287
VAR_017287 disease phenotype-associated
VAR_017287 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_017288 commonName VAR_017288
VAR_017288 disease phenotype-associated
VAR_017288 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_017289 commonName VAR_017289
VAR_017289 disease phenotype-associated
VAR_017289 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017290 commonName VAR_017290
VAR_017290 disease phenotype-associated
VAR_017290 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_017291 commonName VAR_017291
VAR_017291 disease phenotype-associated
VAR_017291 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_017292 commonName VAR_017292
VAR_017292 disease phenotype-associated
VAR_017292 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017293 commonName VAR_017293
VAR_017293 disease phenotype-associated
VAR_017293 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]
VAR_017293 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
VAR_017295 commonName VAR_017295
VAR_017295 disease phenotype-associated
VAR_017295 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_017296 commonName VAR_017296
VAR_017296 disease phenotype-associated
VAR_017296 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_017297 commonName VAR_017297
VAR_017297 disease phenotype-associated
VAR_017297 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_017298 commonName VAR_017298
VAR_017298 disease phenotype-associated
VAR_017298 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017299 commonName VAR_017299
VAR_017299 disease phenotype-associated
VAR_017299 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017300 commonName VAR_017300
VAR_017300 disease phenotype-associated
VAR_017300 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017301 commonName VAR_017301
VAR_017301 disease phenotype-associated
VAR_017301 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017302 commonName VAR_017302
VAR_017302 disease phenotype-associated
VAR_017302 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017303 commonName VAR_017303
VAR_017303 disease phenotype-associated
VAR_017303 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017304 commonName VAR_017304
VAR_017304 disease phenotype-associated
VAR_017304 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_017305 commonName VAR_017305
VAR_017305 disease not phenotype-associated
VAR_017306 commonName VAR_017306
VAR_017306 disease not phenotype-associated
VAR_017307 commonName VAR_017307
VAR_017308 commonName VAR_017308
VAR_017308 disease phenotype-associated
VAR_017308 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017309 commonName VAR_017309
VAR_017309 disease phenotype-associated
VAR_017309 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017310 commonName VAR_017310
VAR_017310 disease phenotype-associated
VAR_017310 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017311 commonName VAR_017311
VAR_017311 disease phenotype-associated
VAR_017311 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017312 commonName VAR_017312
VAR_017312 disease phenotype-associated
VAR_017312 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017313 commonName VAR_017313
VAR_017313 disease phenotype-associated
VAR_017313 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017314 commonName VAR_017314
VAR_017314 disease phenotype-associated
VAR_017314 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017315 commonName VAR_017315
VAR_017315 disease phenotype-associated
VAR_017315 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017316 commonName VAR_017316
VAR_017316 disease phenotype-associated
VAR_017316 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017317 commonName VAR_017317
VAR_017317 disease phenotype-associated
VAR_017317 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017318 commonName VAR_017318
VAR_017318 disease phenotype-associated
VAR_017318 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017319 commonName VAR_017319
VAR_017319 disease phenotype-associated
VAR_017319 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017320 commonName VAR_017320
VAR_017320 disease phenotype-associated
VAR_017320 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017321 commonName VAR_017321
VAR_017321 disease phenotype-associated
VAR_017321 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017322 commonName VAR_017322
VAR_017322 disease phenotype-associated
VAR_017322 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017323 commonName VAR_017323
VAR_017323 disease phenotype-associated
VAR_017323 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017324 commonName VAR_017324
VAR_017324 disease phenotype-associated
VAR_017324 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017325 commonName VAR_017325
VAR_017325 disease phenotype-associated
VAR_017325 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
VAR_017327 commonName VAR_017327
VAR_017327 disease phenotype-associated
VAR_017327 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
VAR_017328 commonName VAR_017328
VAR_017328 disease phenotype-associated
VAR_017328 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
VAR_017329 commonName VAR_017329
VAR_017329 disease phenotype-associated
VAR_017329 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
VAR_017330 commonName VAR_017330
VAR_017330 disease phenotype-associated
VAR_017330 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017331 commonName VAR_017331
VAR_017331 disease phenotype-associated
VAR_017331 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017332 commonName VAR_017332
VAR_017332 disease phenotype-associated
VAR_017332 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017333 commonName VAR_017333
VAR_017333 disease phenotype-associated
VAR_017333 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017334 commonName VAR_017334
VAR_017334 disease phenotype-associated
VAR_017334 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017335 commonName VAR_017335
VAR_017335 disease phenotype-associated
VAR_017335 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017336 commonName VAR_017336
VAR_017336 disease phenotype-associated
VAR_017336 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017337 commonName VAR_017337
VAR_017337 disease phenotype-associated
VAR_017337 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017338 commonName VAR_017338
VAR_017338 disease phenotype-associated
VAR_017338 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017339 commonName VAR_017339
VAR_017339 disease phenotype-associated
VAR_017339 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017340 commonName VAR_017340
VAR_017340 disease phenotype-associated
VAR_017340 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017341 commonName VAR_017341
VAR_017341 disease phenotype-associated
VAR_017341 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_017343 commonName VAR_017343
VAR_017343 disease phenotype-associated
VAR_017343 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017344 commonName VAR_017344
VAR_017344 disease phenotype-associated
VAR_017344 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017345 commonName VAR_017345
VAR_017345 disease phenotype-associated
VAR_017345 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017346 commonName VAR_017346
VAR_017346 disease phenotype-associated
VAR_017346 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017347 commonName VAR_017347
VAR_017347 disease phenotype-associated
VAR_017347 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017348 commonName VAR_017348
VAR_017348 disease phenotype-associated
VAR_017348 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017349 commonName VAR_017349
VAR_017349 disease phenotype-associated
VAR_017349 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017350 commonName VAR_017350
VAR_017350 disease phenotype-associated
VAR_017350 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017351 commonName VAR_017351
VAR_017351 disease phenotype-associated
VAR_017351 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017352 commonName VAR_017352
VAR_017352 disease phenotype-associated
VAR_017352 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017353 commonName VAR_017353
VAR_017353 disease phenotype-associated
VAR_017353 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017354 commonName VAR_017354
VAR_017354 disease phenotype-associated
VAR_017354 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017355 commonName VAR_017355
VAR_017355 disease phenotype-associated
VAR_017355 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017356 commonName VAR_017356
VAR_017356 disease phenotype-associated
VAR_017356 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017357 commonName VAR_017357
VAR_017357 disease phenotype-associated
VAR_017357 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017358 commonName VAR_017358
VAR_017358 disease phenotype-associated
VAR_017358 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017359 commonName VAR_017359
VAR_017359 disease phenotype-associated
VAR_017359 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017360 commonName VAR_017360
VAR_017360 disease phenotype-associated
VAR_017360 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017361 commonName VAR_017361
VAR_017361 disease phenotype-associated
VAR_017361 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017362 commonName VAR_017362
VAR_017362 disease phenotype-associated
VAR_017362 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017363 commonName VAR_017363
VAR_017363 disease phenotype-associated
VAR_017363 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017364 commonName VAR_017364
VAR_017364 disease phenotype-associated
VAR_017364 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017365 commonName VAR_017365
VAR_017365 disease phenotype-associated
VAR_017365 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900]
VAR_017366 commonName VAR_017366
VAR_017366 disease phenotype-associated
VAR_017366 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017367 commonName VAR_017367
VAR_017367 disease phenotype-associated
VAR_017367 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017368 commonName VAR_017368
VAR_017368 disease phenotype-associated
VAR_017368 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017369 commonName VAR_017369
VAR_017369 disease phenotype-associated
VAR_017369 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017370 commonName VAR_017370
VAR_017370 disease phenotype-associated
VAR_017370 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017371 commonName VAR_017371
VAR_017371 disease phenotype-associated
VAR_017371 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_017371 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017372 commonName VAR_017372
VAR_017372 disease phenotype-associated
VAR_017372 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
VAR_017373 commonName VAR_017373
VAR_017373 disease phenotype-associated
VAR_017373 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017374 commonName VAR_017374
VAR_017374 disease phenotype-associated
VAR_017374 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017375 commonName VAR_017375
VAR_017375 disease phenotype-associated
VAR_017375 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017376 commonName VAR_017376
VAR_017376 disease phenotype-associated
VAR_017376 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017377 commonName VAR_017377
VAR_017377 disease phenotype-associated
VAR_017377 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017378 commonName VAR_017378
VAR_017378 disease phenotype-associated
VAR_017378 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017379 commonName VAR_017379
VAR_017379 disease phenotype-associated
VAR_017379 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017380 commonName VAR_017380
VAR_017380 disease phenotype-associated
VAR_017380 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017381 commonName VAR_017381
VAR_017381 disease phenotype-associated
VAR_017381 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_017382 commonName VAR_017382
VAR_017382 disease not phenotype-associated
VAR_017383 commonName VAR_017383
VAR_017383 disease not phenotype-associated
VAR_017384 commonName VAR_017384
VAR_017384 disease not phenotype-associated
VAR_017385 commonName VAR_017385
VAR_017385 disease not phenotype-associated
VAR_017386 commonName VAR_017386
VAR_017386 disease not phenotype-associated
VAR_017388 commonName VAR_017388
VAR_017388 disease phenotype-associated
VAR_017388 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_017389 commonName VAR_017389
VAR_017389 disease phenotype-associated
VAR_017389 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_017397 commonName VAR_017397
VAR_017397 disease not phenotype-associated
VAR_017398 commonName VAR_017398
VAR_017398 disease not phenotype-associated
VAR_017399 commonName VAR_017399
VAR_017399 disease not phenotype-associated
VAR_017400 commonName VAR_017400
VAR_017400 disease not phenotype-associated
VAR_017401 commonName VAR_017401
VAR_017401 disease not phenotype-associated
VAR_017404 commonName VAR_017404
VAR_017404 disease not phenotype-associated
VAR_017405 commonName VAR_017405
VAR_017405 disease not phenotype-associated
VAR_017406 commonName VAR_017406
VAR_017406 disease not phenotype-associated
VAR_017407 commonName VAR_017407
VAR_017407 disease phenotype-associated
VAR_017407 phenoCommon Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]
VAR_017408 commonName VAR_017408
VAR_017408 disease phenotype-associated
VAR_017408 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600]
VAR_017408 phenoCommon Du Pan syndrome (DPS) [MIM:228900]
VAR_017410 commonName VAR_017410
VAR_017410 disease not phenotype-associated
VAR_017412 commonName VAR_017412
VAR_017412 disease not phenotype-associated
VAR_017413 commonName VAR_017413
VAR_017413 disease not phenotype-associated
VAR_017414 commonName VAR_017414
VAR_017414 disease not phenotype-associated
VAR_017415 commonName VAR_017415
VAR_017415 disease not phenotype-associated
VAR_017416 commonName VAR_017416
VAR_017416 disease not phenotype-associated
VAR_017417 commonName VAR_017417
VAR_017417 disease not phenotype-associated
VAR_017418 commonName VAR_017418
VAR_017418 disease not phenotype-associated
VAR_017419 commonName VAR_017419
VAR_017419 disease not phenotype-associated
VAR_017420 commonName VAR_017420
VAR_017420 disease phenotype-associated
VAR_017420 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]
VAR_017421 commonName VAR_017421
VAR_017421 disease phenotype-associated
VAR_017421 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]
VAR_017422 commonName VAR_017422
VAR_017422 disease phenotype-associated
VAR_017422 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]
VAR_017423 commonName VAR_017423
VAR_017423 disease not phenotype-associated
VAR_017425 commonName VAR_017425
VAR_017426 commonName VAR_017426
VAR_017426 disease not phenotype-associated
VAR_017427 commonName VAR_017427
VAR_017428 commonName VAR_017428
VAR_017428 disease not phenotype-associated
VAR_017429 commonName VAR_017429
VAR_017430 commonName VAR_017430
VAR_017430 disease not phenotype-associated
VAR_017431 commonName VAR_017431
VAR_017432 commonName VAR_017432
VAR_017433 commonName VAR_017433
VAR_017433 disease not phenotype-associated
VAR_017434 commonName VAR_017434
VAR_017434 disease not phenotype-associated
VAR_017435 commonName VAR_017435
VAR_017436 commonName VAR_017436
VAR_017436 disease phenotype-associated
VAR_017436 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_017437 commonName VAR_017437
VAR_017437 disease phenotype-associated
VAR_017437 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_017438 commonName VAR_017438
VAR_017438 disease phenotype-associated
VAR_017438 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_017439 commonName VAR_017439
VAR_017439 disease phenotype-associated
VAR_017439 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_017440 commonName VAR_017440
VAR_017440 disease phenotype-associated
VAR_017440 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_017441 commonName VAR_017441
VAR_017441 disease phenotype-associated
VAR_017441 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_017443 commonName VAR_017443
VAR_017443 disease not phenotype-associated
VAR_017445 commonName VAR_017445
VAR_017445 disease phenotype-associated
VAR_017445 phenoCommon North American Indian childhood cirrhosis (NAIC) [MIM:604901]
VAR_017446 commonName VAR_017446
VAR_017446 disease not phenotype-associated
VAR_017447 commonName VAR_017447
VAR_017447 disease not phenotype-associated
VAR_017448 commonName VAR_017448
VAR_017448 disease not phenotype-associated
VAR_017449 commonName VAR_017449
VAR_017449 disease not phenotype-associated
VAR_017450 commonName VAR_017450
VAR_017450 disease not phenotype-associated
VAR_017451 commonName VAR_017451
VAR_017451 disease not phenotype-associated
VAR_017452 commonName VAR_017452
VAR_017452 disease phenotype-associated
VAR_017452 phenoCommon Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]
VAR_017453 commonName VAR_017453
VAR_017453 disease not phenotype-associated
VAR_017454 commonName VAR_017454
VAR_017454 disease not phenotype-associated
VAR_017455 commonName VAR_017455
VAR_017456 commonName VAR_017456
VAR_017456 disease not phenotype-associated
VAR_017457 commonName VAR_017457
VAR_017457 disease not phenotype-associated
VAR_017458 commonName VAR_017458
VAR_017458 disease not phenotype-associated
VAR_017462 commonName VAR_017462
VAR_017462 disease phenotype-associated
VAR_017462 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_017463 commonName VAR_017463
VAR_017464 commonName VAR_017464
VAR_017465 commonName VAR_017465
VAR_017465 disease phenotype-associated
VAR_017465 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017466 commonName VAR_017466
VAR_017466 disease phenotype-associated
VAR_017466 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017467 commonName VAR_017467
VAR_017467 disease phenotype-associated
VAR_017467 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017468 commonName VAR_017468
VAR_017468 disease phenotype-associated
VAR_017468 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017469 commonName VAR_017469
VAR_017469 disease phenotype-associated
VAR_017469 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017470 commonName VAR_017470
VAR_017470 disease phenotype-associated
VAR_017470 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017471 commonName VAR_017471
VAR_017471 disease phenotype-associated
VAR_017471 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017472 commonName VAR_017472
VAR_017472 disease phenotype-associated
VAR_017472 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017473 commonName VAR_017473
VAR_017473 disease phenotype-associated
VAR_017473 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017474 commonName VAR_017474
VAR_017474 disease phenotype-associated
VAR_017474 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017475 commonName VAR_017475
VAR_017475 disease phenotype-associated
VAR_017475 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017476 commonName VAR_017476
VAR_017476 disease phenotype-associated
VAR_017476 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017477 commonName VAR_017477
VAR_017477 disease phenotype-associated
VAR_017477 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017478 commonName VAR_017478
VAR_017478 disease phenotype-associated
VAR_017478 phenoCommon Alexander disease (ALEXD) [MIM:203450]
VAR_017479 commonName VAR_017479
VAR_017479 disease not phenotype-associated
VAR_017480 commonName VAR_017480
VAR_017480 disease not phenotype-associated
VAR_017481 commonName VAR_017481
VAR_017481 disease not phenotype-associated
VAR_017482 commonName VAR_017482
VAR_017482 disease phenotype-associated
VAR_017482 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017483 commonName VAR_017483
VAR_017483 disease phenotype-associated
VAR_017483 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017484 commonName VAR_017484
VAR_017484 disease phenotype-associated
VAR_017484 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017485 commonName VAR_017485
VAR_017485 disease phenotype-associated
VAR_017485 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017486 commonName VAR_017486
VAR_017486 disease phenotype-associated
VAR_017486 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017487 commonName VAR_017487
VAR_017487 disease phenotype-associated
VAR_017487 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017488 commonName VAR_017488
VAR_017488 disease phenotype-associated
VAR_017488 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017489 commonName VAR_017489
VAR_017489 disease phenotype-associated
VAR_017489 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017490 commonName VAR_017490
VAR_017490 disease phenotype-associated
VAR_017490 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_017495 commonName VAR_017495
VAR_017495 disease phenotype-associated
VAR_017495 phenoCommon Fanconi anemia complementation group G (FANCG) [MIM:614082]
VAR_017496 commonName VAR_017496
VAR_017496 disease not phenotype-associated
VAR_017497 commonName VAR_017497
VAR_017497 disease phenotype-associated
VAR_017497 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017498 commonName VAR_017498
VAR_017498 disease phenotype-associated
VAR_017498 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017499 commonName VAR_017499
VAR_017499 disease phenotype-associated
VAR_017499 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017500 commonName VAR_017500
VAR_017500 disease phenotype-associated
VAR_017500 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017501 commonName VAR_017501
VAR_017501 disease phenotype-associated
VAR_017501 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017502 commonName VAR_017502
VAR_017502 disease phenotype-associated
VAR_017502 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017503 commonName VAR_017503
VAR_017503 disease phenotype-associated
VAR_017503 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017504 commonName VAR_017504
VAR_017504 disease phenotype-associated
VAR_017504 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017505 commonName VAR_017505
VAR_017505 disease phenotype-associated
VAR_017505 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_017508 commonName VAR_017508
VAR_017508 disease not phenotype-associated
VAR_017509 commonName VAR_017509
VAR_017509 disease not phenotype-associated
VAR_017510 commonName VAR_017510
VAR_017510 disease phenotype-associated
VAR_017510 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017511 commonName VAR_017511
VAR_017511 disease phenotype-associated
VAR_017511 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017512 commonName VAR_017512
VAR_017512 disease phenotype-associated
VAR_017512 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017513 commonName VAR_017513
VAR_017513 disease phenotype-associated
VAR_017513 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017514 commonName VAR_017514
VAR_017514 disease phenotype-associated
VAR_017514 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017515 commonName VAR_017515
VAR_017515 disease phenotype-associated
VAR_017515 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017516 commonName VAR_017516
VAR_017516 disease phenotype-associated
VAR_017516 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017517 commonName VAR_017517
VAR_017517 disease phenotype-associated
VAR_017517 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017518 commonName VAR_017518
VAR_017518 disease phenotype-associated
VAR_017518 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017519 commonName VAR_017519
VAR_017519 disease phenotype-associated
VAR_017519 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017520 commonName VAR_017520
VAR_017520 disease phenotype-associated
VAR_017520 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200]
VAR_017529 commonName VAR_017529
VAR_017529 disease phenotype-associated
VAR_017529 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_017530 commonName VAR_017530
VAR_017530 disease phenotype-associated
VAR_017530 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_017531 commonName VAR_017531
VAR_017531 disease phenotype-associated
VAR_017531 phenoCommon Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]
VAR_017532 commonName VAR_017532
VAR_017532 disease phenotype-associated
VAR_017532 phenoCommon Acrokeratosis verruciformis (AKV) [MIM:101900]
VAR_017533 commonName VAR_017533
VAR_017533 disease phenotype-associated
VAR_017533 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_017534 commonName VAR_017534
VAR_017534 disease phenotype-associated
VAR_017534 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_017535 commonName VAR_017535
VAR_017535 disease phenotype-associated
VAR_017535 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820]
VAR_017536 commonName VAR_017536
VAR_017536 disease phenotype-associated
VAR_017536 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_017537 commonName VAR_017537
VAR_017537 disease phenotype-associated
VAR_017537 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_017538 commonName VAR_017538
VAR_017538 disease phenotype-associated
VAR_017538 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500]
VAR_017539 commonName VAR_017539
VAR_017540 commonName VAR_017540
VAR_017541 commonName VAR_017541
VAR_017541 disease phenotype-associated
VAR_017541 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520]
VAR_017542 commonName VAR_017542
VAR_017542 disease phenotype-associated
VAR_017542 phenoCommon Coloboma of iris choroid and retina (COI) [MIM:120200]
VAR_017543 commonName VAR_017543
VAR_017543 disease phenotype-associated
VAR_017543 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
VAR_017544 commonName VAR_017544
VAR_017544 disease phenotype-associated
VAR_017544 phenoCommon Peters anomaly (PAN) [MIM:604229]
VAR_017545 commonName VAR_017545
VAR_017546 commonName VAR_017546
VAR_017546 disease phenotype-associated
VAR_017546 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
VAR_017547 commonName VAR_017547
VAR_017547 disease phenotype-associated
VAR_017547 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
VAR_017550 comment Mismatch repair deficient cancer cells
VAR_017550 commonName VAR_017550
VAR_017551 commonName VAR_017551
VAR_017551 disease phenotype-associated
VAR_017551 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_017552 commonName VAR_017552
VAR_017552 disease not phenotype-associated
VAR_017553 commonName VAR_017553
VAR_017553 disease phenotype-associated
VAR_017553 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_017554 comment Mismatch repair deficient cancer cells
VAR_017554 commonName VAR_017554
VAR_017555 commonName VAR_017555
VAR_017555 disease phenotype-associated
VAR_017555 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_017556 commonName VAR_017556
VAR_017556 disease phenotype-associated
VAR_017556 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600]
VAR_017558 commonName VAR_017558
VAR_017558 disease phenotype-associated
VAR_017558 phenoCommon Cataract, zonular (CZ) [MIM:116800]
VAR_017559 commonName VAR_017559
VAR_017559 disease phenotype-associated
VAR_017559 phenoCommon Cataract, zonular (CZ) [MIM:116800]
VAR_017560 commonName VAR_017560
VAR_017560 disease phenotype-associated
VAR_017560 phenoCommon Cataract, zonular (CZ) [MIM:116800]
VAR_017561 commonName VAR_017561
VAR_017561 disease phenotype-associated
VAR_017561 phenoCommon Cataract Marner type (CAM) [MIM:116800]
VAR_017562 commonName VAR_017562
VAR_017562 disease phenotype-associated
VAR_017562 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_017563 commonName VAR_017563
VAR_017563 disease phenotype-associated
VAR_017563 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_017564 commonName VAR_017564
VAR_017564 disease phenotype-associated
VAR_017564 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_017565 commonName VAR_017565
VAR_017565 disease phenotype-associated
VAR_017565 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_017570 commonName VAR_017570
VAR_017570 disease not phenotype-associated
VAR_017571 commonName VAR_017571
VAR_017571 disease not phenotype-associated
VAR_017572 commonName VAR_017572
VAR_017572 disease phenotype-associated
VAR_017572 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_017573 commonName VAR_017573
VAR_017573 disease phenotype-associated
VAR_017573 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_017574 commonName VAR_017574
VAR_017574 disease phenotype-associated
VAR_017574 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_017575 commonName VAR_017575
VAR_017575 disease not phenotype-associated
VAR_017576 commonName VAR_017576
VAR_017576 disease not phenotype-associated
VAR_017577 commonName VAR_017577
VAR_017577 disease phenotype-associated
VAR_017577 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_017578 commonName VAR_017578
VAR_017578 disease phenotype-associated
VAR_017578 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_017580 commonName VAR_017580
VAR_017580 disease not phenotype-associated
VAR_017581 commonName VAR_017581
VAR_017581 disease phenotype-associated
VAR_017581 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_017582 comment A patient with non small cell lung carcinomas
VAR_017582 commonName VAR_017582
VAR_017583 comment A patient with non small cell lung carcinomas
VAR_017583 commonName VAR_017583
VAR_017584 commonName VAR_017584
VAR_017584 disease not phenotype-associated
VAR_017585 commonName VAR_017585
VAR_017585 disease not phenotype-associated
VAR_017586 comment A patient with non small cell lung carcinomas
VAR_017586 commonName VAR_017586
VAR_017587 commonName VAR_017587
VAR_017587 disease not phenotype-associated
VAR_017588 commonName VAR_017588
VAR_017588 disease phenotype-associated
VAR_017588 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]
VAR_017589 commonName VAR_017589
VAR_017589 disease phenotype-associated
VAR_017589 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]
VAR_017590 commonName VAR_017590
VAR_017590 disease phenotype-associated
VAR_017590 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]
VAR_017592 commonName VAR_017592
VAR_017592 disease not phenotype-associated
VAR_017593 commonName VAR_017593
VAR_017593 disease not phenotype-associated
VAR_017594 commonName VAR_017594
VAR_017594 disease not phenotype-associated
VAR_017595 commonName VAR_017595
VAR_017595 disease not phenotype-associated
VAR_017596 commonName VAR_017596
VAR_017596 disease phenotype-associated
VAR_017596 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_017597 commonName VAR_017597
VAR_017597 disease not phenotype-associated
VAR_017598 commonName VAR_017598
VAR_017598 disease phenotype-associated
VAR_017598 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_017599 commonName VAR_017599
VAR_017599 disease phenotype-associated
VAR_017599 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_017600 commonName VAR_017600
VAR_017600 disease not phenotype-associated
VAR_017601 commonName VAR_017601
VAR_017601 disease phenotype-associated
VAR_017601 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_017602 commonName VAR_017602
VAR_017602 disease not phenotype-associated
VAR_017603 commonName VAR_017603
VAR_017603 disease not phenotype-associated
VAR_017604 commonName VAR_017604
VAR_017604 disease phenotype-associated
VAR_017604 phenoCommon Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
VAR_017606 commonName VAR_017606
VAR_017606 disease not phenotype-associated
VAR_017607 commonName VAR_017607
VAR_017607 disease phenotype-associated
VAR_017607 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_017608 commonName VAR_017608
VAR_017608 disease phenotype-associated
VAR_017608 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_017609 commonName VAR_017609
VAR_017609 disease phenotype-associated
VAR_017609 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_017610 commonName VAR_017610
VAR_017610 disease phenotype-associated
VAR_017610 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_017611 commonName VAR_017611
VAR_017611 disease phenotype-associated
VAR_017611 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_017612 comment Hepatocellular carcinoma
VAR_017612 commonName VAR_017612
VAR_017614 comment Hepatocellular carcinoma
VAR_017614 commonName VAR_017614
VAR_017615 commonName VAR_017615
VAR_017615 disease phenotype-associated
VAR_017615 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017616 commonName VAR_017616
VAR_017616 disease phenotype-associated
VAR_017616 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017617 commonName VAR_017617
VAR_017617 disease phenotype-associated
VAR_017617 phenoCommon Medulloblastoma (MDB) [MIM:155255]
VAR_017617 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017618 comment Hepatocellular carcinoma
VAR_017618 commonName VAR_017618
VAR_017619 commonName VAR_017619
VAR_017619 disease phenotype-associated
VAR_017619 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_017619 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017620 commonName VAR_017620
VAR_017620 disease phenotype-associated
VAR_017620 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017621 comment Hepatocellular carcinoma
VAR_017621 commonName VAR_017621
VAR_017622 commonName VAR_017622
VAR_017622 disease not phenotype-associated
VAR_017623 comment Hepatocellular carcinoma
VAR_017623 commonName VAR_017623
VAR_017624 commonName VAR_017624
VAR_017624 disease phenotype-associated
VAR_017624 phenoCommon Medulloblastoma (MDB) [MIM:155255]
VAR_017625 commonName VAR_017625
VAR_017625 disease phenotype-associated
VAR_017625 phenoCommon Ovarian cancer (OC) [MIM:167000]
VAR_017625 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017626 commonName VAR_017626
VAR_017626 disease phenotype-associated
VAR_017626 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017627 comment Hepatocellular carcinoma
VAR_017627 commonName VAR_017627
VAR_017629 comment Hepatocellular carcinoma
VAR_017629 commonName VAR_017629
VAR_017630 commonName VAR_017630
VAR_017630 disease phenotype-associated
VAR_017630 phenoCommon Ovarian cancer (OC) [MIM:167000]
VAR_017630 phenoCommon Pilomatrixoma (PTR) [MIM:132600]
VAR_017631 comment Hepatocellular carcinoma
VAR_017631 commonName VAR_017631
VAR_017632 comment Hepatocellular carcinoma
VAR_017632 commonName VAR_017632
VAR_017633 commonName VAR_017633
VAR_017633 disease phenotype-associated
VAR_017633 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
VAR_017634 commonName VAR_017634
VAR_017634 disease phenotype-associated
VAR_017634 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
VAR_017635 commonName VAR_017635
VAR_017635 disease phenotype-associated
VAR_017635 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
VAR_017636 commonName VAR_017636
VAR_017636 disease phenotype-associated
VAR_017636 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
VAR_017637 commonName VAR_017637
VAR_017637 disease phenotype-associated
VAR_017637 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
VAR_017638 commonName VAR_017638
VAR_017638 disease not phenotype-associated
VAR_017639 commonName VAR_017639
VAR_017639 disease phenotype-associated
VAR_017639 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017640 commonName VAR_017640
VAR_017640 disease phenotype-associated
VAR_017640 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017641 commonName VAR_017641
VAR_017641 disease phenotype-associated
VAR_017641 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017642 commonName VAR_017642
VAR_017642 disease phenotype-associated
VAR_017642 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017643 commonName VAR_017643
VAR_017643 disease phenotype-associated
VAR_017643 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017644 commonName VAR_017644
VAR_017644 disease phenotype-associated
VAR_017644 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017645 commonName VAR_017645
VAR_017645 disease phenotype-associated
VAR_017645 phenoCommon Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]
VAR_017645 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_017646 commonName VAR_017646
VAR_017646 disease phenotype-associated
VAR_017646 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017647 commonName VAR_017647
VAR_017647 disease phenotype-associated
VAR_017647 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017649 commonName VAR_017649
VAR_017649 disease phenotype-associated
VAR_017649 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017650 commonName VAR_017650
VAR_017650 disease phenotype-associated
VAR_017650 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_017651 commonName VAR_017651
VAR_017651 disease phenotype-associated
VAR_017651 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_017652 commonName VAR_017652
VAR_017652 disease not phenotype-associated
VAR_017653 commonName VAR_017653
VAR_017653 disease phenotype-associated
VAR_017653 phenoCommon Medulloblastoma (MDB) [MIM:155255]
VAR_017654 commonName VAR_017654
VAR_017654 disease phenotype-associated
VAR_017654 phenoCommon Medulloblastoma (MDB) [MIM:155255]
VAR_017655 commonName VAR_017655
VAR_017655 disease phenotype-associated
VAR_017655 phenoCommon Medulloblastoma (MDB) [MIM:155255]
VAR_017656 commonName VAR_017656
VAR_017656 disease phenotype-associated
VAR_017656 phenoCommon Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
VAR_017657 commonName VAR_017657
VAR_017657 disease phenotype-associated
VAR_017657 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_017658 commonName VAR_017658
VAR_017658 disease phenotype-associated
VAR_017658 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_017659 commonName VAR_017659
VAR_017659 disease phenotype-associated
VAR_017659 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_017660 commonName VAR_017660
VAR_017660 disease phenotype-associated
VAR_017660 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_017661 commonName VAR_017661
VAR_017661 disease phenotype-associated
VAR_017661 phenoCommon Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]
VAR_017662 commonName VAR_017662
VAR_017662 disease phenotype-associated
VAR_017662 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_017663 commonName VAR_017663
VAR_017663 disease phenotype-associated
VAR_017663 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_017664 commonName VAR_017664
VAR_017664 disease phenotype-associated
VAR_017664 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_017665 commonName VAR_017665
VAR_017665 disease phenotype-associated
VAR_017665 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_017666 commonName VAR_017666
VAR_017666 disease phenotype-associated
VAR_017666 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]
VAR_017667 commonName VAR_017667
VAR_017667 disease phenotype-associated
VAR_017667 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_017668 commonName VAR_017668
VAR_017668 disease phenotype-associated
VAR_017668 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_017669 commonName VAR_017669
VAR_017669 disease phenotype-associated
VAR_017669 phenoCommon Familial spinal neurofibromatosis (FSNF) [MIM:162210]
VAR_017670 commonName VAR_017670
VAR_017670 disease phenotype-associated
VAR_017670 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567]
VAR_017671 commonName VAR_017671
VAR_017671 disease phenotype-associated
VAR_017671 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_017672 commonName VAR_017672
VAR_017672 disease phenotype-associated
VAR_017672 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017673 commonName VAR_017673
VAR_017673 disease phenotype-associated
VAR_017673 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017673 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_017674 commonName VAR_017674
VAR_017674 disease phenotype-associated
VAR_017674 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017674 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567]
VAR_017675 commonName VAR_017675
VAR_017675 disease phenotype-associated
VAR_017675 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_017676 commonName VAR_017676
VAR_017676 disease phenotype-associated
VAR_017676 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_017677 commonName VAR_017677
VAR_017677 disease not phenotype-associated
VAR_017678 commonName VAR_017678
VAR_017678 disease phenotype-associated
VAR_017678 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017678 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_017679 commonName VAR_017679
VAR_017679 disease phenotype-associated
VAR_017679 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017679 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_017680 commonName VAR_017680
VAR_017680 disease phenotype-associated
VAR_017680 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567]
VAR_017681 commonName VAR_017681
VAR_017681 disease phenotype-associated
VAR_017681 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017681 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567]
VAR_017682 commonName VAR_017682
VAR_017682 disease phenotype-associated
VAR_017682 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017683 commonName VAR_017683
VAR_017683 disease phenotype-associated
VAR_017683 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_017684 commonName VAR_017684
VAR_017684 disease phenotype-associated
VAR_017684 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017685 commonName VAR_017685
VAR_017685 disease phenotype-associated
VAR_017685 phenoCommon Familial paroxysmal ventricular fibrillation type 1 (VF1) [MIM:603829]
VAR_017687 commonName VAR_017687
VAR_017687 disease phenotype-associated
VAR_017687 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_017688 commonName VAR_017688
VAR_017688 disease phenotype-associated
VAR_017688 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_017689 commonName VAR_017689
VAR_017689 disease not phenotype-associated
VAR_017690 commonName VAR_017690
VAR_017690 disease not phenotype-associated
VAR_017691 commonName VAR_017691
VAR_017691 disease not phenotype-associated
VAR_017692 commonName VAR_017692
VAR_017692 disease not phenotype-associated
VAR_017693 commonName VAR_017693
VAR_017693 disease not phenotype-associated
VAR_017694 commonName VAR_017694
VAR_017694 disease not phenotype-associated
VAR_017695 commonName VAR_017695
VAR_017695 disease not phenotype-associated
VAR_017696 commonName VAR_017696
VAR_017696 disease not phenotype-associated
VAR_017697 commonName VAR_017697
VAR_017697 disease not phenotype-associated
VAR_017739 commonName VAR_017739
VAR_017739 disease not phenotype-associated
VAR_017744 commonName VAR_017744
VAR_017744 disease phenotype-associated
VAR_017744 phenoCommon Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]
VAR_017745 commonName VAR_017745
VAR_017745 disease not phenotype-associated
VAR_017746 commonName VAR_017746
VAR_017746 disease phenotype-associated
VAR_017746 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_017747 commonName VAR_017747
VAR_017747 disease phenotype-associated
VAR_017747 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_017748 commonName VAR_017748
VAR_017748 disease phenotype-associated
VAR_017748 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_017749 commonName VAR_017749
VAR_017749 disease phenotype-associated
VAR_017749 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_017750 commonName VAR_017750
VAR_017750 disease phenotype-associated
VAR_017750 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_017751 commonName VAR_017751
VAR_017751 disease phenotype-associated
VAR_017751 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_017753 commonName VAR_017753
VAR_017753 disease not phenotype-associated
VAR_017754 commonName VAR_017754
VAR_017754 disease phenotype-associated
VAR_017754 phenoCommon Myopathy myosin storage (MYOMS) [MIM:608358]
VAR_017754 phenoCommon Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]
VAR_017755 commonName VAR_017755
VAR_017755 disease not phenotype-associated
VAR_017756 commonName VAR_017756
VAR_017756 disease not phenotype-associated
VAR_017757 commonName VAR_017757
VAR_017757 disease not phenotype-associated
VAR_017758 commonName VAR_017758
VAR_017758 disease not phenotype-associated
VAR_017759 commonName VAR_017759
VAR_017759 disease phenotype-associated
VAR_017759 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_017760 commonName VAR_017760
VAR_017760 disease not phenotype-associated
VAR_017775 commonName VAR_017775
VAR_017775 disease phenotype-associated
VAR_017775 phenoCommon Guttmacher syndrome (GUTTS) [MIM:176305]
VAR_017776 commonName VAR_017776
VAR_017776 disease phenotype-associated
VAR_017776 phenoCommon Hand-foot-genital syndrome (HFGS) [MIM:140000]
VAR_017778 commonName VAR_017778
VAR_017778 disease not phenotype-associated
VAR_017779 commonName VAR_017779
VAR_017779 disease not phenotype-associated
VAR_017780 commonName VAR_017780
VAR_017780 disease not phenotype-associated
VAR_017781 commonName VAR_017781
VAR_017785 commonName VAR_017785
VAR_017785 disease not phenotype-associated
VAR_017786 commonName VAR_017786
VAR_017786 disease phenotype-associated
VAR_017786 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_017787 commonName VAR_017787
VAR_017787 disease not phenotype-associated
VAR_017788 commonName VAR_017788
VAR_017788 disease phenotype-associated
VAR_017788 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_017789 commonName VAR_017789
VAR_017789 disease phenotype-associated
VAR_017789 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_017790 commonName VAR_017790
VAR_017790 disease phenotype-associated
VAR_017790 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_017791 commonName VAR_017791
VAR_017791 disease phenotype-associated
VAR_017791 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_017792 commonName VAR_017792
VAR_017792 disease phenotype-associated
VAR_017792 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_017793 commonName VAR_017793
VAR_017793 disease phenotype-associated
VAR_017793 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_017794 commonName VAR_017794
VAR_017794 disease not phenotype-associated
VAR_017795 commonName VAR_017795
VAR_017795 disease phenotype-associated
VAR_017795 phenoCommon A congenital myasthenic syndrome acetazolamide-responsive (CMSAR) [MIM:614198]
VAR_017796 commonName VAR_017796
VAR_017796 disease not phenotype-associated
VAR_017797 commonName VAR_017797
VAR_017797 disease not phenotype-associated
VAR_017801 commonName VAR_017801
VAR_017801 disease not phenotype-associated
VAR_017802 commonName VAR_017802
VAR_017802 disease not phenotype-associated
VAR_017803 commonName VAR_017803
VAR_017803 disease not phenotype-associated
VAR_017804 commonName VAR_017804
VAR_017804 disease not phenotype-associated
VAR_017805 commonName VAR_017805
VAR_017805 disease not phenotype-associated
VAR_017806 commonName VAR_017806
VAR_017806 disease not phenotype-associated
VAR_017807 commonName VAR_017807
VAR_017807 disease not phenotype-associated
VAR_017808 commonName VAR_017808
VAR_017808 disease not phenotype-associated
VAR_017809 commonName VAR_017809
VAR_017809 disease not phenotype-associated
VAR_017810 commonName VAR_017810
VAR_017810 disease not phenotype-associated
VAR_017811 commonName VAR_017811
VAR_017811 disease not phenotype-associated
VAR_017812 commonName VAR_017812
VAR_017812 disease not phenotype-associated
VAR_017813 commonName VAR_017813
VAR_017813 disease not phenotype-associated
VAR_017814 commonName VAR_017814
VAR_017814 disease not phenotype-associated
VAR_017815 comment A acute lymphoblastic leukemia cell line
VAR_017815 commonName VAR_017815
VAR_017816 comment An ovarian cancer cell line
VAR_017816 commonName VAR_017816
VAR_017817 commonName VAR_017817
VAR_017817 disease not phenotype-associated
VAR_017818 commonName VAR_017818
VAR_017818 disease phenotype-associated
VAR_017818 phenoCommon Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]
VAR_017819 commonName VAR_017819
VAR_017819 disease phenotype-associated
VAR_017819 phenoCommon Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]
VAR_017820 commonName VAR_017820
VAR_017820 disease phenotype-associated
VAR_017820 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017821 commonName VAR_017821
VAR_017821 disease phenotype-associated
VAR_017821 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017822 commonName VAR_017822
VAR_017822 disease phenotype-associated
VAR_017822 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017823 commonName VAR_017823
VAR_017823 disease phenotype-associated
VAR_017823 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017824 commonName VAR_017824
VAR_017824 disease phenotype-associated
VAR_017824 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017825 commonName VAR_017825
VAR_017825 disease phenotype-associated
VAR_017825 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602]
VAR_017826 commonName VAR_017826
VAR_017826 disease phenotype-associated
VAR_017826 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017826 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602]
VAR_017827 commonName VAR_017827
VAR_017827 disease phenotype-associated
VAR_017827 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017828 commonName VAR_017828
VAR_017828 disease phenotype-associated
VAR_017828 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800]
VAR_017829 commonName VAR_017829
VAR_017829 disease phenotype-associated
VAR_017829 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_017830 commonName VAR_017830
VAR_017830 disease not phenotype-associated
VAR_017831 commonName VAR_017831
VAR_017831 disease phenotype-associated
VAR_017831 phenoCommon Cone-rod dystrophy type 13 (CORD13) [MIM:608194]
VAR_017832 commonName VAR_017832
VAR_017832 disease not phenotype-associated
VAR_017833 commonName VAR_017833
VAR_017833 disease phenotype-associated
VAR_017833 phenoCommon Leber congenital amaurosis type 6 (LCA6) [MIM:613826]
VAR_017837 commonName VAR_017837
VAR_017837 disease not phenotype-associated
VAR_017838 commonName VAR_017838
VAR_017838 disease phenotype-associated
VAR_017838 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_017838 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_017839 commonName VAR_017839
VAR_017839 disease phenotype-associated
VAR_017839 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_017840 commonName VAR_017840
VAR_017840 disease phenotype-associated
VAR_017840 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_017840 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_017841 commonName VAR_017841
VAR_017841 disease phenotype-associated
VAR_017841 phenoCommon Pelger-Huet anomaly (PHA) [MIM:169400]
VAR_017842 commonName VAR_017842
VAR_017842 disease phenotype-associated
VAR_017842 phenoCommon Pelger-Huet anomaly (PHA) [MIM:169400]
VAR_017843 commonName VAR_017843
VAR_017843 disease phenotype-associated
VAR_017843 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_017844 commonName VAR_017844
VAR_017844 disease phenotype-associated
VAR_017844 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800]
VAR_017845 comment Non-MAS endocrine tumors
VAR_017845 commonName VAR_017845
VAR_017846 commonName VAR_017846
VAR_017846 disease phenotype-associated
VAR_017846 phenoCommon ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]
VAR_017847 commonName VAR_017847
VAR_017848 commonName VAR_017848
VAR_017848 disease phenotype-associated
VAR_017848 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_017849 commonName VAR_017849
VAR_017849 disease phenotype-associated
VAR_017849 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_017851 commonName VAR_017851
VAR_017851 disease phenotype-associated
VAR_017851 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017852 commonName VAR_017852
VAR_017852 disease phenotype-associated
VAR_017852 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017854 commonName VAR_017854
VAR_017854 disease phenotype-associated
VAR_017854 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017855 commonName VAR_017855
VAR_017855 disease phenotype-associated
VAR_017855 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017856 commonName VAR_017856
VAR_017856 disease phenotype-associated
VAR_017856 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017857 commonName VAR_017857
VAR_017857 disease phenotype-associated
VAR_017857 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017858 commonName VAR_017858
VAR_017858 disease phenotype-associated
VAR_017858 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_017863 commonName VAR_017863
VAR_017863 disease not phenotype-associated
VAR_017864 commonName VAR_017864
VAR_017864 disease not phenotype-associated
VAR_017865 commonName VAR_017865
VAR_017865 disease phenotype-associated
VAR_017865 phenoCommon Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]
VAR_017866 commonName VAR_017866
VAR_017866 disease phenotype-associated
VAR_017866 phenoCommon Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]
VAR_017867 commonName VAR_017867
VAR_017867 disease not phenotype-associated
VAR_017868 commonName VAR_017868
VAR_017868 disease phenotype-associated
VAR_017868 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310]
VAR_017869 comment Familial malignant paraganglioma and pheochromocytoma
VAR_017869 commonName VAR_017869
VAR_017869 disease phenotype-associated
VAR_017869 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310]
VAR_017869 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_017870 commonName VAR_017870
VAR_017870 disease not phenotype-associated
VAR_017871 commonName VAR_017871
VAR_017871 disease not phenotype-associated
VAR_017872 commonName VAR_017872
VAR_017872 disease phenotype-associated
VAR_017872 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_017873 commonName VAR_017873
VAR_017873 disease phenotype-associated
VAR_017873 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_017874 commonName VAR_017874
VAR_017874 disease phenotype-associated
VAR_017874 phenoCommon Currarino syndrome (CURRAS) [MIM:176450]
VAR_017875 commonName VAR_017875
VAR_017875 disease phenotype-associated
VAR_017875 phenoCommon Currarino syndrome (CURRAS) [MIM:176450]
VAR_017876 commonName VAR_017876
VAR_017876 disease phenotype-associated
VAR_017876 phenoCommon Currarino syndrome (CURRAS) [MIM:176450]
VAR_017883 commonName VAR_017883
VAR_017883 disease phenotype-associated
VAR_017883 phenoCommon Solitary median maxillary central incisor (SMMCI) [MIM:147250]
VAR_017885 commonName VAR_017885
VAR_017885 disease phenotype-associated
VAR_017885 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017886 commonName VAR_017886
VAR_017886 disease phenotype-associated
VAR_017886 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017887 commonName VAR_017887
VAR_017887 disease phenotype-associated
VAR_017887 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017888 commonName VAR_017888
VAR_017888 disease phenotype-associated
VAR_017888 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017889 commonName VAR_017889
VAR_017889 disease phenotype-associated
VAR_017889 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017890 commonName VAR_017890
VAR_017890 disease phenotype-associated
VAR_017890 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017891 commonName VAR_017891
VAR_017891 disease phenotype-associated
VAR_017891 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017892 commonName VAR_017892
VAR_017892 disease phenotype-associated
VAR_017892 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_017893 commonName VAR_017893
VAR_017893 disease not phenotype-associated
VAR_017894 commonName VAR_017894
VAR_017894 disease phenotype-associated
VAR_017894 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017895 commonName VAR_017895
VAR_017895 disease phenotype-associated
VAR_017895 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017896 commonName VAR_017896
VAR_017896 disease phenotype-associated
VAR_017896 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017897 commonName VAR_017897
VAR_017897 disease phenotype-associated
VAR_017897 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017898 commonName VAR_017898
VAR_017898 disease phenotype-associated
VAR_017898 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017898 phenoCommon Posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140]
VAR_017899 commonName VAR_017899
VAR_017899 disease phenotype-associated
VAR_017899 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
VAR_017901 commonName VAR_017901
VAR_017901 disease phenotype-associated
VAR_017901 phenoCommon Klippel-Trenaunay syndrome (KTS) [MIM:149000]
VAR_017902 commonName VAR_017902
VAR_017902 disease not phenotype-associated
VAR_017903 commonName VAR_017903
VAR_017903 disease not phenotype-associated
VAR_017904 commonName VAR_017904
VAR_017904 disease phenotype-associated
VAR_017904 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
VAR_017905 commonName VAR_017905
VAR_017905 disease phenotype-associated
VAR_017905 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
VAR_017906 commonName VAR_017906
VAR_017906 disease phenotype-associated
VAR_017906 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
VAR_017907 commonName VAR_017907
VAR_017907 disease phenotype-associated
VAR_017907 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
VAR_017908 comment Sporadic cancers
VAR_017908 commonName VAR_017908
VAR_017909 comment Sporadic cancers
VAR_017909 commonName VAR_017909
VAR_017910 commonName VAR_017910
VAR_017910 disease not phenotype-associated
VAR_017911 commonName VAR_017911
VAR_017911 disease not phenotype-associated
VAR_017912 commonName VAR_017912
VAR_017912 disease phenotype-associated
VAR_017912 phenoCommon Prolonged electroretinal response suppression (PERRS) [MIM:608415]
VAR_017913 commonName VAR_017913
VAR_017913 disease phenotype-associated
VAR_017913 phenoCommon Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
VAR_017914 commonName VAR_017914
VAR_017915 commonName VAR_017915
VAR_017917 commonName VAR_017917
VAR_017917 disease phenotype-associated
VAR_017917 phenoCommon Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
VAR_017918 commonName VAR_017918
VAR_017920 commonName VAR_017920
VAR_017920 disease not phenotype-associated
VAR_017921 commonName VAR_017921
VAR_017921 disease not phenotype-associated
VAR_017922 commonName VAR_017922
VAR_017922 disease phenotype-associated
VAR_017922 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017923 commonName VAR_017923
VAR_017923 disease phenotype-associated
VAR_017923 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017924 commonName VAR_017924
VAR_017924 disease phenotype-associated
VAR_017924 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017925 commonName VAR_017925
VAR_017925 disease phenotype-associated
VAR_017925 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017926 commonName VAR_017926
VAR_017926 disease phenotype-associated
VAR_017926 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017927 commonName VAR_017927
VAR_017927 disease phenotype-associated
VAR_017927 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017928 commonName VAR_017928
VAR_017928 disease phenotype-associated
VAR_017928 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017929 commonName VAR_017929
VAR_017929 disease phenotype-associated
VAR_017929 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017930 commonName VAR_017930
VAR_017930 disease phenotype-associated
VAR_017930 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017931 commonName VAR_017931
VAR_017931 disease phenotype-associated
VAR_017931 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017932 commonName VAR_017932
VAR_017932 disease phenotype-associated
VAR_017932 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017933 commonName VAR_017933
VAR_017933 disease phenotype-associated
VAR_017933 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017934 commonName VAR_017934
VAR_017934 disease phenotype-associated
VAR_017934 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017935 commonName VAR_017935
VAR_017935 disease phenotype-associated
VAR_017935 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017936 commonName VAR_017936
VAR_017936 disease phenotype-associated
VAR_017936 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017937 commonName VAR_017937
VAR_017937 disease phenotype-associated
VAR_017937 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017938 commonName VAR_017938
VAR_017938 disease phenotype-associated
VAR_017938 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017939 commonName VAR_017939
VAR_017939 disease phenotype-associated
VAR_017939 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017940 commonName VAR_017940
VAR_017940 disease phenotype-associated
VAR_017940 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
VAR_017941 commonName VAR_017941
VAR_017941 disease not phenotype-associated
VAR_017942 commonName VAR_017942
VAR_017942 disease phenotype-associated
VAR_017942 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_017943 commonName VAR_017943
VAR_017943 disease phenotype-associated
VAR_017943 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_017944 commonName VAR_017944
VAR_017944 disease not phenotype-associated
VAR_017945 commonName VAR_017945
VAR_017945 disease phenotype-associated
VAR_017945 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017946 commonName VAR_017946
VAR_017946 disease phenotype-associated
VAR_017946 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017947 commonName VAR_017947
VAR_017947 disease phenotype-associated
VAR_017947 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017948 commonName VAR_017948
VAR_017948 disease phenotype-associated
VAR_017948 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017949 commonName VAR_017949
VAR_017949 disease phenotype-associated
VAR_017949 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017950 commonName VAR_017950
VAR_017950 disease phenotype-associated
VAR_017950 phenoCommon Sialuria (SIALURIA) [MIM:269921]
VAR_017951 commonName VAR_017951
VAR_017951 disease phenotype-associated
VAR_017951 phenoCommon Sialuria (SIALURIA) [MIM:269921]
VAR_017952 commonName VAR_017952
VAR_017952 disease phenotype-associated
VAR_017952 phenoCommon Sialuria (SIALURIA) [MIM:269921]
VAR_017953 commonName VAR_017953
VAR_017953 disease phenotype-associated
VAR_017953 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017954 commonName VAR_017954
VAR_017954 disease phenotype-associated
VAR_017954 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017954 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_017955 commonName VAR_017955
VAR_017955 disease phenotype-associated
VAR_017955 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017955 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_017956 commonName VAR_017956
VAR_017956 disease phenotype-associated
VAR_017956 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017957 commonName VAR_017957
VAR_017957 disease phenotype-associated
VAR_017957 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017958 commonName VAR_017958
VAR_017958 disease phenotype-associated
VAR_017958 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017959 commonName VAR_017959
VAR_017959 disease phenotype-associated
VAR_017959 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017959 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_017960 commonName VAR_017960
VAR_017960 disease phenotype-associated
VAR_017960 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017961 commonName VAR_017961
VAR_017961 disease phenotype-associated
VAR_017961 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017962 commonName VAR_017962
VAR_017962 disease phenotype-associated
VAR_017962 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017963 commonName VAR_017963
VAR_017963 disease phenotype-associated
VAR_017963 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017963 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_017964 commonName VAR_017964
VAR_017964 disease phenotype-associated
VAR_017964 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017965 commonName VAR_017965
VAR_017965 disease phenotype-associated
VAR_017965 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_017966 commonName VAR_017966
VAR_017966 disease phenotype-associated
VAR_017966 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_018045 commonName VAR_018045
VAR_018045 disease phenotype-associated
VAR_018045 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_018046 commonName VAR_018046
VAR_018046 disease phenotype-associated
VAR_018046 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_018047 commonName VAR_018047
VAR_018047 disease phenotype-associated
VAR_018047 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_018048 commonName VAR_018048
VAR_018048 disease phenotype-associated
VAR_018048 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_018049 comment Ovarian sex cord tumor
VAR_018049 commonName VAR_018049
VAR_018052 commonName VAR_018052
VAR_018052 disease not phenotype-associated
VAR_018069 commonName VAR_018069
VAR_018069 disease phenotype-associated
VAR_018069 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_018070 commonName VAR_018070
VAR_018070 disease phenotype-associated
VAR_018070 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_018071 commonName VAR_018071
VAR_018072 commonName VAR_018072
VAR_018072 disease phenotype-associated
VAR_018072 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_018074 commonName VAR_018074
VAR_018074 disease phenotype-associated
VAR_018074 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_018075 commonName VAR_018075
VAR_018075 disease phenotype-associated
VAR_018075 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_018078 commonName VAR_018078
VAR_018078 disease phenotype-associated
VAR_018078 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018079 commonName VAR_018079
VAR_018079 disease phenotype-associated
VAR_018079 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018080 commonName VAR_018080
VAR_018080 disease phenotype-associated
VAR_018080 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018081 commonName VAR_018081
VAR_018081 disease phenotype-associated
VAR_018081 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018082 commonName VAR_018082
VAR_018082 disease phenotype-associated
VAR_018082 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018083 commonName VAR_018083
VAR_018083 disease phenotype-associated
VAR_018083 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018084 commonName VAR_018084
VAR_018084 disease phenotype-associated
VAR_018084 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018085 commonName VAR_018085
VAR_018085 disease phenotype-associated
VAR_018085 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018086 commonName VAR_018086
VAR_018086 disease phenotype-associated
VAR_018086 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018087 commonName VAR_018087
VAR_018087 disease phenotype-associated
VAR_018087 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018088 commonName VAR_018088
VAR_018088 disease phenotype-associated
VAR_018088 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018089 commonName VAR_018089
VAR_018089 disease phenotype-associated
VAR_018089 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018091 commonName VAR_018091
VAR_018091 disease phenotype-associated
VAR_018091 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018092 commonName VAR_018092
VAR_018092 disease phenotype-associated
VAR_018092 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018093 commonName VAR_018093
VAR_018093 disease phenotype-associated
VAR_018093 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018094 commonName VAR_018094
VAR_018094 disease phenotype-associated
VAR_018094 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018095 commonName VAR_018095
VAR_018095 disease phenotype-associated
VAR_018095 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018096 commonName VAR_018096
VAR_018096 disease phenotype-associated
VAR_018096 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018097 commonName VAR_018097
VAR_018097 disease phenotype-associated
VAR_018097 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_018098 commonName VAR_018098
VAR_018098 disease not phenotype-associated
VAR_018099 commonName VAR_018099
VAR_018099 disease not phenotype-associated
VAR_018100 comment Malignant melanoma
VAR_018100 commonName VAR_018100
VAR_018101 commonName VAR_018101
VAR_018102 commonName VAR_018102
VAR_018102 disease phenotype-associated
VAR_018102 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_018103 commonName VAR_018103
VAR_018103 disease phenotype-associated
VAR_018103 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]
VAR_018104 commonName VAR_018104
VAR_018104 disease phenotype-associated
VAR_018104 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_018105 comment Malignant melanoma
VAR_018105 commonName VAR_018105
VAR_018106 comment A patient with glioma
VAR_018106 commonName VAR_018106
VAR_018107 commonName VAR_018107
VAR_018107 disease not phenotype-associated
VAR_018109 commonName VAR_018109
VAR_018109 disease not phenotype-associated
VAR_018110 commonName VAR_018110
VAR_018110 disease not phenotype-associated
VAR_018111 commonName VAR_018111
VAR_018111 disease phenotype-associated
VAR_018111 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_018112 commonName VAR_018112
VAR_018112 disease not phenotype-associated
VAR_018113 commonName VAR_018113
VAR_018113 disease not phenotype-associated
VAR_018114 commonName VAR_018114
VAR_018114 disease not phenotype-associated
VAR_018115 commonName VAR_018115
VAR_018115 disease not phenotype-associated
VAR_018116 commonName VAR_018116
VAR_018116 disease phenotype-associated
VAR_018116 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018117 commonName VAR_018117
VAR_018117 disease phenotype-associated
VAR_018117 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018118 commonName VAR_018118
VAR_018118 disease not phenotype-associated
VAR_018119 commonName VAR_018119
VAR_018119 disease not phenotype-associated
VAR_018120 commonName VAR_018120
VAR_018120 disease not phenotype-associated
VAR_018121 commonName VAR_018121
VAR_018121 disease not phenotype-associated
VAR_018122 commonName VAR_018122
VAR_018122 disease not phenotype-associated
VAR_018123 commonName VAR_018123
VAR_018123 disease not phenotype-associated
VAR_018124 commonName VAR_018124
VAR_018124 disease not phenotype-associated
VAR_018125 commonName VAR_018125
VAR_018125 disease phenotype-associated
VAR_018125 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018126 commonName VAR_018126
VAR_018126 disease phenotype-associated
VAR_018126 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018127 commonName VAR_018127
VAR_018127 disease phenotype-associated
VAR_018127 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018128 commonName VAR_018128
VAR_018128 disease phenotype-associated
VAR_018128 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018129 commonName VAR_018129
VAR_018129 disease phenotype-associated
VAR_018129 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_018130 commonName VAR_018130
VAR_018130 disease phenotype-associated
VAR_018130 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018131 commonName VAR_018131
VAR_018131 disease phenotype-associated
VAR_018131 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018132 commonName VAR_018132
VAR_018132 disease phenotype-associated
VAR_018132 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018133 commonName VAR_018133
VAR_018133 disease phenotype-associated
VAR_018133 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018134 commonName VAR_018134
VAR_018134 disease phenotype-associated
VAR_018134 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018135 commonName VAR_018135
VAR_018135 disease phenotype-associated
VAR_018135 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018136 commonName VAR_018136
VAR_018136 disease phenotype-associated
VAR_018136 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018137 commonName VAR_018137
VAR_018137 disease phenotype-associated
VAR_018137 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018138 commonName VAR_018138
VAR_018138 disease phenotype-associated
VAR_018138 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018139 commonName VAR_018139
VAR_018139 disease phenotype-associated
VAR_018139 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018140 commonName VAR_018140
VAR_018140 disease phenotype-associated
VAR_018140 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018141 commonName VAR_018141
VAR_018141 disease phenotype-associated
VAR_018141 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_018142 commonName VAR_018142
VAR_018142 disease not phenotype-associated
VAR_018143 commonName VAR_018143
VAR_018143 disease not phenotype-associated
VAR_018144 commonName VAR_018144
VAR_018144 disease not phenotype-associated
VAR_018145 commonName VAR_018145
VAR_018145 disease not phenotype-associated
VAR_018146 commonName VAR_018146
VAR_018146 disease not phenotype-associated
VAR_018147 commonName VAR_018147
VAR_018147 disease not phenotype-associated
VAR_018149 commonName VAR_018149
VAR_018149 disease phenotype-associated
VAR_018149 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358]
VAR_018150 commonName VAR_018150
VAR_018151 commonName VAR_018151
VAR_018151 disease phenotype-associated
VAR_018151 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_018153 commonName VAR_018153
VAR_018153 disease phenotype-associated
VAR_018153 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_018154 commonName VAR_018154
VAR_018154 disease phenotype-associated
VAR_018154 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_018154 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_018155 commonName VAR_018155
VAR_018155 disease phenotype-associated
VAR_018155 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_018156 commonName VAR_018156
VAR_018156 disease not phenotype-associated
VAR_018157 commonName VAR_018157
VAR_018157 disease phenotype-associated
VAR_018157 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_018158 commonName VAR_018158
VAR_018159 commonName VAR_018159
VAR_018159 disease phenotype-associated
VAR_018159 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_018160 commonName VAR_018160
VAR_018160 disease phenotype-associated
VAR_018160 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358]
VAR_018161 commonName VAR_018161
VAR_018161 disease phenotype-associated
VAR_018161 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_018162 commonName VAR_018162
VAR_018162 disease phenotype-associated
VAR_018162 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_018163 commonName VAR_018163
VAR_018163 disease phenotype-associated
VAR_018163 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358]
VAR_018164 commonName VAR_018164
VAR_018164 disease phenotype-associated
VAR_018164 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_018165 commonName VAR_018165
VAR_018166 commonName VAR_018166
VAR_018167 commonName VAR_018167
VAR_018167 disease not phenotype-associated
VAR_018168 commonName VAR_018168
VAR_018169 commonName VAR_018169
VAR_018169 disease not phenotype-associated
VAR_018170 commonName VAR_018170
VAR_018170 disease not phenotype-associated
VAR_018172 commonName VAR_018172
VAR_018172 disease not phenotype-associated
VAR_018173 commonName VAR_018173
VAR_018173 disease not phenotype-associated
VAR_018174 commonName VAR_018174
VAR_018174 disease not phenotype-associated
VAR_018175 commonName VAR_018175
VAR_018175 disease not phenotype-associated
VAR_018176 commonName VAR_018176
VAR_018176 disease not phenotype-associated
VAR_018177 commonName VAR_018177
VAR_018177 disease not phenotype-associated
VAR_018178 commonName VAR_018178
VAR_018178 disease not phenotype-associated
VAR_018180 commonName VAR_018180
VAR_018180 disease phenotype-associated
VAR_018180 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018181 commonName VAR_018181
VAR_018181 disease not phenotype-associated
VAR_018182 commonName VAR_018182
VAR_018182 disease phenotype-associated
VAR_018182 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018183 commonName VAR_018183
VAR_018183 disease phenotype-associated
VAR_018183 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018184 commonName VAR_018184
VAR_018184 disease phenotype-associated
VAR_018184 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018185 commonName VAR_018185
VAR_018185 disease phenotype-associated
VAR_018185 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018186 commonName VAR_018186
VAR_018186 disease phenotype-associated
VAR_018186 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018187 commonName VAR_018187
VAR_018187 disease phenotype-associated
VAR_018187 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018188 commonName VAR_018188
VAR_018188 disease phenotype-associated
VAR_018188 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018189 commonName VAR_018189
VAR_018189 disease phenotype-associated
VAR_018189 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018190 commonName VAR_018190
VAR_018190 disease phenotype-associated
VAR_018190 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018191 commonName VAR_018191
VAR_018191 disease phenotype-associated
VAR_018191 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018192 commonName VAR_018192
VAR_018192 disease phenotype-associated
VAR_018192 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_018193 commonName VAR_018193
VAR_018193 disease not phenotype-associated
VAR_018194 commonName VAR_018194
VAR_018194 disease not phenotype-associated
VAR_018195 commonName VAR_018195
VAR_018195 disease not phenotype-associated
VAR_018196 commonName VAR_018196
VAR_018196 disease not phenotype-associated
VAR_018197 commonName VAR_018197
VAR_018197 disease phenotype-associated
VAR_018197 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018198 commonName VAR_018198
VAR_018198 disease phenotype-associated
VAR_018198 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018199 commonName VAR_018199
VAR_018199 disease not phenotype-associated
VAR_018200 commonName VAR_018200
VAR_018200 disease not phenotype-associated
VAR_018201 commonName VAR_018201
VAR_018201 disease not phenotype-associated
VAR_018202 commonName VAR_018202
VAR_018202 disease not phenotype-associated
VAR_018203 commonName VAR_018203
VAR_018203 disease phenotype-associated
VAR_018203 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_018204 commonName VAR_018204
VAR_018204 disease not phenotype-associated
VAR_018205 commonName VAR_018205
VAR_018205 disease not phenotype-associated
VAR_018206 commonName VAR_018206
VAR_018206 disease phenotype-associated
VAR_018206 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018207 commonName VAR_018207
VAR_018207 disease phenotype-associated
VAR_018207 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018208 commonName VAR_018208
VAR_018208 disease phenotype-associated
VAR_018208 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018209 commonName VAR_018209
VAR_018209 disease phenotype-associated
VAR_018209 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018210 commonName VAR_018210
VAR_018210 disease phenotype-associated
VAR_018210 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018211 commonName VAR_018211
VAR_018211 disease phenotype-associated
VAR_018211 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018212 commonName VAR_018212
VAR_018212 disease phenotype-associated
VAR_018212 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018213 commonName VAR_018213
VAR_018213 disease phenotype-associated
VAR_018213 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018214 commonName VAR_018214
VAR_018214 disease phenotype-associated
VAR_018214 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_018215 commonName VAR_018215
VAR_018215 disease not phenotype-associated
VAR_018216 commonName VAR_018216
VAR_018218 commonName VAR_018218
VAR_018219 commonName VAR_018219
VAR_018219 disease not phenotype-associated
VAR_018220 commonName VAR_018220
VAR_018221 commonName VAR_018221
VAR_018221 disease not phenotype-associated
VAR_018222 commonName VAR_018222
VAR_018222 disease not phenotype-associated
VAR_018223 commonName VAR_018223
VAR_018223 disease not phenotype-associated
VAR_018224 commonName VAR_018224
VAR_018224 disease not phenotype-associated
VAR_018225 commonName VAR_018225
VAR_018225 disease phenotype-associated
VAR_018225 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_018226 commonName VAR_018226
VAR_018226 disease not phenotype-associated
VAR_018227 commonName VAR_018227
VAR_018227 disease phenotype-associated
VAR_018227 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018228 commonName VAR_018228
VAR_018228 disease phenotype-associated
VAR_018228 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018229 commonName VAR_018229
VAR_018229 disease phenotype-associated
VAR_018229 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018230 commonName VAR_018230
VAR_018230 disease phenotype-associated
VAR_018230 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018231 commonName VAR_018231
VAR_018231 disease phenotype-associated
VAR_018231 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018232 commonName VAR_018232
VAR_018232 disease phenotype-associated
VAR_018232 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018233 commonName VAR_018233
VAR_018233 disease phenotype-associated
VAR_018233 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018234 commonName VAR_018234
VAR_018234 disease phenotype-associated
VAR_018234 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018235 commonName VAR_018235
VAR_018235 disease phenotype-associated
VAR_018235 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018236 commonName VAR_018236
VAR_018236 disease phenotype-associated
VAR_018236 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018237 commonName VAR_018237
VAR_018237 disease phenotype-associated
VAR_018237 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018238 commonName VAR_018238
VAR_018238 disease phenotype-associated
VAR_018238 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018239 commonName VAR_018239
VAR_018239 disease phenotype-associated
VAR_018239 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018240 commonName VAR_018240
VAR_018240 disease phenotype-associated
VAR_018240 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018241 commonName VAR_018241
VAR_018241 disease phenotype-associated
VAR_018241 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018242 commonName VAR_018242
VAR_018242 disease phenotype-associated
VAR_018242 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018243 commonName VAR_018243
VAR_018243 disease phenotype-associated
VAR_018243 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018244 commonName VAR_018244
VAR_018244 disease phenotype-associated
VAR_018244 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018245 commonName VAR_018245
VAR_018245 disease phenotype-associated
VAR_018245 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018246 commonName VAR_018246
VAR_018246 disease phenotype-associated
VAR_018246 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018247 commonName VAR_018247
VAR_018247 disease phenotype-associated
VAR_018247 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018248 commonName VAR_018248
VAR_018248 disease phenotype-associated
VAR_018248 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018249 commonName VAR_018249
VAR_018249 disease phenotype-associated
VAR_018249 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018250 commonName VAR_018250
VAR_018250 disease phenotype-associated
VAR_018250 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018251 commonName VAR_018251
VAR_018251 disease phenotype-associated
VAR_018251 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018252 commonName VAR_018252
VAR_018252 disease phenotype-associated
VAR_018252 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018253 commonName VAR_018253
VAR_018253 disease phenotype-associated
VAR_018253 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018254 commonName VAR_018254
VAR_018254 disease phenotype-associated
VAR_018254 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018255 commonName VAR_018255
VAR_018255 disease phenotype-associated
VAR_018255 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400]
VAR_018260 commonName VAR_018260
VAR_018260 disease phenotype-associated
VAR_018260 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_018261 commonName VAR_018261
VAR_018262 commonName VAR_018262
VAR_018262 disease not phenotype-associated
VAR_018263 commonName VAR_018263
VAR_018263 disease not phenotype-associated
VAR_018264 commonName VAR_018264
HbVar.678 ethnic Yugoslavian
VAR_018264 disease not phenotype-associated
VAR_018267 commonName VAR_018267
VAR_018267 disease not phenotype-associated
VAR_018268 commonName VAR_018268
VAR_018268 disease phenotype-associated
VAR_018268 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]
VAR_018269 commonName VAR_018269
VAR_018269 disease phenotype-associated
VAR_018269 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]
VAR_018270 commonName VAR_018270
VAR_018270 disease phenotype-associated
VAR_018270 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]
VAR_018271 commonName VAR_018271
VAR_018271 disease not phenotype-associated
VAR_018272 commonName VAR_018272
VAR_018272 disease not phenotype-associated
VAR_018273 commonName VAR_018273
VAR_018273 disease not phenotype-associated
VAR_018274 commonName VAR_018274
VAR_018274 disease not phenotype-associated
VAR_018275 commonName VAR_018275
VAR_018276 commonName VAR_018276
VAR_018276 disease not phenotype-associated
VAR_018277 commonName VAR_018277
VAR_018277 disease not phenotype-associated
VAR_018278 commonName VAR_018278
VAR_018278 disease phenotype-associated
VAR_018278 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]
VAR_018280 commonName VAR_018280
VAR_018282 commonName VAR_018282
VAR_018282 disease phenotype-associated
VAR_018282 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_018283 commonName VAR_018283
VAR_018283 disease phenotype-associated
VAR_018283 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018284 commonName VAR_018284
VAR_018284 disease phenotype-associated
VAR_018284 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018285 commonName VAR_018285
VAR_018285 disease phenotype-associated
VAR_018285 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_018286 commonName VAR_018286
VAR_018286 disease phenotype-associated
VAR_018286 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018287 commonName VAR_018287
VAR_018287 disease phenotype-associated
VAR_018287 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_018288 commonName VAR_018288
VAR_018288 disease phenotype-associated
VAR_018288 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018289 commonName VAR_018289
VAR_018289 disease phenotype-associated
VAR_018289 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018289 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_018290 commonName VAR_018290
VAR_018290 disease phenotype-associated
VAR_018290 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018291 commonName VAR_018291
VAR_018291 disease phenotype-associated
VAR_018291 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_018292 commonName VAR_018292
VAR_018292 disease phenotype-associated
VAR_018292 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018293 commonName VAR_018293
VAR_018293 disease phenotype-associated
VAR_018293 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018294 commonName VAR_018294
VAR_018294 disease phenotype-associated
VAR_018294 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018295 commonName VAR_018295
VAR_018295 disease phenotype-associated
VAR_018295 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_018296 commonName VAR_018296
VAR_018296 disease not phenotype-associated
VAR_018297 commonName VAR_018297
VAR_018297 disease not phenotype-associated
VAR_018298 commonName VAR_018298
VAR_018298 disease not phenotype-associated
VAR_018300 commonName VAR_018300
VAR_018300 disease phenotype-associated
VAR_018300 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018301 commonName VAR_018301
VAR_018301 disease phenotype-associated
VAR_018301 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018302 commonName VAR_018302
VAR_018302 disease phenotype-associated
VAR_018302 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018303 commonName VAR_018303
VAR_018303 disease phenotype-associated
VAR_018303 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018304 commonName VAR_018304
VAR_018304 disease phenotype-associated
VAR_018304 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018305 commonName VAR_018305
VAR_018305 disease phenotype-associated
VAR_018305 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018306 commonName VAR_018306
VAR_018306 disease phenotype-associated
VAR_018306 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_018307 commonName VAR_018307
VAR_018307 disease phenotype-associated
VAR_018307 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_018308 commonName VAR_018308
VAR_018308 disease phenotype-associated
VAR_018308 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_018309 commonName VAR_018309
VAR_018309 disease phenotype-associated
VAR_018309 phenoCommon Epstein syndrome (EPS) [MIM:153650]
VAR_018310 commonName VAR_018310
VAR_018310 disease phenotype-associated
VAR_018310 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_018310 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_018311 commonName VAR_018311
VAR_018311 disease phenotype-associated
VAR_018311 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]
VAR_018311 phenoCommon Epstein syndrome (EPS) [MIM:153650]
VAR_018312 commonName VAR_018312
VAR_018312 disease phenotype-associated
VAR_018312 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]
VAR_018313 commonName VAR_018313
VAR_018313 disease phenotype-associated
VAR_018313 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_018313 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_018313 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_018315 commonName VAR_018315
VAR_018316 commonName VAR_018316
VAR_018316 disease phenotype-associated
VAR_018316 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_018316 phenoCommon Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]
VAR_018316 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_018316 phenoCommon Sebastian syndrome (SBS) [MIM:605249]
VAR_018317 commonName VAR_018317
VAR_018317 disease phenotype-associated
VAR_018317 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100]
VAR_018318 commonName VAR_018318
VAR_018318 disease not phenotype-associated
VAR_018321 comment Squamous cell carcinoma
VAR_018321 commonName VAR_018321
VAR_018322 comment Squamous cell carcinoma
VAR_018322 commonName VAR_018322
VAR_018323 comment Squamous cell carcinoma
VAR_018323 commonName VAR_018323
VAR_018324 commonName VAR_018324
VAR_018324 disease phenotype-associated
VAR_018324 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_018324 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_018325 commonName VAR_018325
VAR_018325 disease phenotype-associated
VAR_018325 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_018326 commonName VAR_018326
VAR_018326 disease phenotype-associated
VAR_018326 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
VAR_018328 commonName VAR_018328
VAR_018329 commonName VAR_018329
VAR_018329 disease not phenotype-associated
VAR_018330 commonName VAR_018330
VAR_018330 disease not phenotype-associated
VAR_018331 commonName VAR_018331
VAR_018331 disease not phenotype-associated
VAR_018332 commonName VAR_018332
VAR_018332 disease not phenotype-associated
VAR_018333 commonName VAR_018333
VAR_018333 disease not phenotype-associated
VAR_018334 commonName VAR_018334
VAR_018334 disease not phenotype-associated
VAR_018335 commonName VAR_018335
VAR_018335 disease not phenotype-associated
VAR_018337 commonName VAR_018337
VAR_018337 disease not phenotype-associated
VAR_018338 commonName VAR_018338
VAR_018338 disease not phenotype-associated
VAR_018339 commonName VAR_018339
VAR_018339 disease not phenotype-associated
VAR_018340 commonName VAR_018340
VAR_018340 disease not phenotype-associated
VAR_018341 commonName VAR_018341
VAR_018341 disease not phenotype-associated
VAR_018344 commonName VAR_018344
VAR_018344 disease not phenotype-associated
VAR_018345 commonName VAR_018345
VAR_018345 disease not phenotype-associated
VAR_018346 commonName VAR_018346
VAR_018346 disease not phenotype-associated
VAR_018347 commonName VAR_018347
VAR_018347 disease not phenotype-associated
VAR_018348 commonName VAR_018348
VAR_018348 disease not phenotype-associated
VAR_018349 commonName VAR_018349
VAR_018349 disease not phenotype-associated
VAR_018350 commonName VAR_018350
VAR_018350 disease not phenotype-associated
VAR_018351 commonName VAR_018351
VAR_018351 disease not phenotype-associated
VAR_018352 commonName VAR_018352
VAR_018352 disease not phenotype-associated
VAR_018353 commonName VAR_018353
VAR_018353 disease not phenotype-associated
VAR_018354 commonName VAR_018354
VAR_018354 disease not phenotype-associated
VAR_018355 commonName VAR_018355
VAR_018355 disease not phenotype-associated
VAR_018356 commonName VAR_018356
VAR_018356 disease not phenotype-associated
VAR_018357 commonName VAR_018357
VAR_018357 disease not phenotype-associated
VAR_018358 commonName VAR_018358
VAR_018358 disease not phenotype-associated
VAR_018359 commonName VAR_018359
VAR_018359 disease not phenotype-associated
VAR_018360 commonName VAR_018360
VAR_018360 disease not phenotype-associated
VAR_018361 commonName VAR_018361
VAR_018361 disease not phenotype-associated
VAR_018369 commonName VAR_018369
VAR_018369 disease not phenotype-associated
VAR_018370 commonName VAR_018370
VAR_018370 disease not phenotype-associated
VAR_018371 commonName VAR_018371
VAR_018371 disease not phenotype-associated
VAR_018372 commonName VAR_018372
VAR_018372 disease not phenotype-associated
VAR_018373 commonName VAR_018373
VAR_018373 disease not phenotype-associated
VAR_018374 commonName VAR_018374
VAR_018374 disease not phenotype-associated
VAR_018375 commonName VAR_018375
VAR_018375 disease not phenotype-associated
VAR_018376 commonName VAR_018376
VAR_018376 disease not phenotype-associated
VAR_018377 commonName VAR_018377
VAR_018377 disease not phenotype-associated
VAR_018378 commonName VAR_018378
VAR_018378 disease not phenotype-associated
VAR_018379 commonName VAR_018379
VAR_018379 disease not phenotype-associated
VAR_018382 commonName VAR_018382
VAR_018382 disease not phenotype-associated
VAR_018383 commonName VAR_018383
VAR_018383 disease not phenotype-associated
VAR_018384 commonName VAR_018384
VAR_018384 disease not phenotype-associated
VAR_018385 commonName VAR_018385
VAR_018385 disease not phenotype-associated
VAR_018386 commonName VAR_018386
VAR_018386 disease phenotype-associated
VAR_018386 phenoCommon Leber congenital amaurosis type 14 (LCA14) [MIM:613341]
VAR_018387 commonName VAR_018387
VAR_018387 disease phenotype-associated
VAR_018387 phenoCommon ACTH deficiency isolated (IAD) [MIM:201400]
VAR_018388 comment Colorectal cancer
VAR_018388 commonName VAR_018388
VAR_018389 commonName VAR_018389
VAR_018389 disease phenotype-associated
VAR_018389 phenoCommon Hypochondroplasia (HCH) [MIM:146000]
VAR_018390 commonName VAR_018390
VAR_018390 disease phenotype-associated
VAR_018390 phenoCommon Bladder cancer (BLC) [MIM:109800]
VAR_018390 phenoCommon Hypochondroplasia (HCH) [MIM:146000]
VAR_018391 commonName VAR_018391
VAR_018391 disease phenotype-associated
VAR_018391 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]
VAR_018392 commonName VAR_018392
VAR_018392 disease phenotype-associated
VAR_018392 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]
VAR_018393 commonName VAR_018393
VAR_018393 disease phenotype-associated
VAR_018393 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]
VAR_018394 commonName VAR_018394
VAR_018394 disease phenotype-associated
VAR_018394 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]
VAR_018395 commonName VAR_018395
VAR_018395 disease phenotype-associated
VAR_018395 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]
VAR_018396 commonName VAR_018396
VAR_018396 disease not phenotype-associated
VAR_018397 commonName VAR_018397
VAR_018397 disease not phenotype-associated
VAR_018399 commonName VAR_018399
VAR_018399 disease not phenotype-associated
VAR_018400 commonName VAR_018400
VAR_018400 disease not phenotype-associated
VAR_018401 commonName VAR_018401
VAR_018401 disease not phenotype-associated
VAR_018402 commonName VAR_018402
VAR_018402 disease not phenotype-associated
VAR_018403 commonName VAR_018403
VAR_018403 disease not phenotype-associated
VAR_018404 commonName VAR_018404
VAR_018404 disease not phenotype-associated
VAR_018405 commonName VAR_018405
VAR_018405 disease not phenotype-associated
VAR_018406 commonName VAR_018406
VAR_018406 disease not phenotype-associated
VAR_018407 commonName VAR_018407
VAR_018407 disease not phenotype-associated
VAR_018408 commonName VAR_018408
VAR_018408 disease not phenotype-associated
VAR_018409 commonName VAR_018409
VAR_018409 disease phenotype-associated
VAR_018409 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
VAR_018410 commonName VAR_018410
VAR_018410 disease not phenotype-associated
VAR_018411 commonName VAR_018411
VAR_018411 disease phenotype-associated
VAR_018411 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089]
VAR_018412 commonName VAR_018412
VAR_018412 disease phenotype-associated
VAR_018412 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
VAR_018413 commonName VAR_018413
VAR_018413 disease phenotype-associated
VAR_018413 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
VAR_018414 commonName VAR_018414
VAR_018414 disease phenotype-associated
VAR_018414 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
VAR_018415 commonName VAR_018415
VAR_018415 disease phenotype-associated
VAR_018415 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
VAR_018416 commonName VAR_018416
VAR_018416 disease phenotype-associated
VAR_018416 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089]
VAR_018417 commonName VAR_018417
VAR_018417 disease not phenotype-associated
VAR_018418 commonName VAR_018418
VAR_018418 disease phenotype-associated
VAR_018418 phenoCommon Lymphedema-distichiasis (LYD) [MIM:153400]
VAR_018419 commonName VAR_018419
VAR_018419 disease not phenotype-associated
VAR_018420 commonName VAR_018420
VAR_018420 disease not phenotype-associated
VAR_018421 commonName VAR_018421
VAR_018421 disease not phenotype-associated
VAR_018422 commonName VAR_018422
VAR_018422 disease not phenotype-associated
VAR_018423 commonName VAR_018423
VAR_018423 disease not phenotype-associated
VAR_018424 commonName VAR_018424
VAR_018424 disease not phenotype-associated
VAR_018425 commonName VAR_018425
VAR_018425 disease not phenotype-associated
VAR_018426 commonName VAR_018426
VAR_018426 disease phenotype-associated
VAR_018426 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018427 commonName VAR_018427
VAR_018427 disease phenotype-associated
VAR_018427 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018428 commonName VAR_018428
VAR_018428 disease phenotype-associated
VAR_018428 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018429 commonName VAR_018429
VAR_018429 disease phenotype-associated
VAR_018429 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018430 commonName VAR_018430
VAR_018431 commonName VAR_018431
VAR_018431 disease phenotype-associated
VAR_018431 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018432 commonName VAR_018432
VAR_018432 disease phenotype-associated
VAR_018432 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018433 commonName VAR_018433
VAR_018433 disease phenotype-associated
VAR_018433 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018434 commonName VAR_018434
VAR_018434 disease phenotype-associated
VAR_018434 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018435 commonName VAR_018435
VAR_018435 disease phenotype-associated
VAR_018435 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018436 commonName VAR_018436
VAR_018436 disease phenotype-associated
VAR_018436 phenoCommon Laron syndrome (LARS) [MIM:262500]
VAR_018437 commonName VAR_018437
VAR_018437 disease phenotype-associated
VAR_018437 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018438 commonName VAR_018438
VAR_018438 disease phenotype-associated
VAR_018438 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018439 commonName VAR_018439
VAR_018439 disease phenotype-associated
VAR_018439 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018440 commonName VAR_018440
VAR_018440 disease phenotype-associated
VAR_018440 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018441 commonName VAR_018441
VAR_018441 disease phenotype-associated
VAR_018441 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018442 commonName VAR_018442
VAR_018442 disease phenotype-associated
VAR_018442 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018443 commonName VAR_018443
VAR_018443 disease phenotype-associated
VAR_018443 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018444 commonName VAR_018444
VAR_018444 disease phenotype-associated
VAR_018444 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018445 commonName VAR_018445
VAR_018445 disease phenotype-associated
VAR_018445 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018446 commonName VAR_018446
VAR_018446 disease phenotype-associated
VAR_018446 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018447 commonName VAR_018447
VAR_018447 disease phenotype-associated
VAR_018447 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_018448 commonName VAR_018448
VAR_018448 disease not phenotype-associated
VAR_018449 commonName VAR_018449
VAR_018449 disease not phenotype-associated
VAR_018450 commonName VAR_018450
VAR_018450 disease not phenotype-associated
VAR_018451 commonName VAR_018451
VAR_018451 disease not phenotype-associated
VAR_018454 commonName VAR_018454
VAR_018454 disease not phenotype-associated
VAR_018455 commonName VAR_018455
VAR_018455 disease not phenotype-associated
VAR_018456 commonName VAR_018456
VAR_018456 disease not phenotype-associated
VAR_018457 commonName VAR_018457
VAR_018457 disease not phenotype-associated
VAR_018458 commonName VAR_018458
VAR_018458 disease not phenotype-associated
VAR_018459 commonName VAR_018459
VAR_018459 disease not phenotype-associated
VAR_018460 commonName VAR_018460
VAR_018460 disease not phenotype-associated
VAR_018461 commonName VAR_018461
VAR_018461 disease not phenotype-associated
VAR_018462 commonName VAR_018462
VAR_018462 disease not phenotype-associated
VAR_018464 commonName VAR_018464
VAR_018464 disease phenotype-associated
VAR_018464 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_018465 commonName VAR_018465
VAR_018465 disease phenotype-associated
VAR_018465 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_018468 commonName VAR_018468
VAR_018468 disease not phenotype-associated
VAR_018469 commonName VAR_018469
VAR_018469 disease not phenotype-associated
VAR_018471 commonName VAR_018471
VAR_018471 disease phenotype-associated
VAR_018471 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
VAR_018472 commonName VAR_018472
VAR_018472 disease phenotype-associated
VAR_018472 phenoCommon Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]
VAR_018473 commonName VAR_018473
VAR_018473 disease phenotype-associated
VAR_018473 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
VAR_018474 commonName VAR_018474
VAR_018474 disease not phenotype-associated
VAR_018475 commonName VAR_018475
VAR_018475 disease not phenotype-associated
VAR_018476 commonName VAR_018476
VAR_018476 disease not phenotype-associated
VAR_018477 commonName VAR_018477
VAR_018477 disease not phenotype-associated
VAR_018478 commonName VAR_018478
VAR_018478 disease not phenotype-associated
VAR_018479 commonName VAR_018479
VAR_018479 disease not phenotype-associated
VAR_018480 commonName VAR_018480
VAR_018480 disease not phenotype-associated
VAR_018481 commonName VAR_018481
VAR_018481 disease not phenotype-associated
VAR_018482 commonName VAR_018482
VAR_018482 disease not phenotype-associated
VAR_018483 commonName VAR_018483
VAR_018483 disease phenotype-associated
VAR_018483 phenoCommon Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]
VAR_018490 commonName VAR_018490
VAR_018490 disease not phenotype-associated
VAR_018491 commonName VAR_018491
VAR_018491 disease not phenotype-associated
VAR_018492 commonName VAR_018492
VAR_018492 disease not phenotype-associated
VAR_018493 commonName VAR_018493
VAR_018493 disease not phenotype-associated
VAR_018494 commonName VAR_018494
VAR_018494 disease not phenotype-associated
VAR_018495 commonName VAR_018495
VAR_018495 disease not phenotype-associated
VAR_018499 commonName VAR_018499
VAR_018499 disease not phenotype-associated
VAR_018500 commonName VAR_018500
VAR_018500 disease not phenotype-associated
VAR_018501 commonName VAR_018501
VAR_018501 disease not phenotype-associated
VAR_018502 commonName VAR_018502
VAR_018502 disease not phenotype-associated
VAR_018503 commonName VAR_018503
VAR_018503 disease not phenotype-associated
VAR_018504 commonName VAR_018504
VAR_018504 disease phenotype-associated
VAR_018504 phenoCommon Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]
VAR_018505 commonName VAR_018505
VAR_018505 disease phenotype-associated
VAR_018505 phenoCommon Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]
VAR_018505 phenoCommon Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]
VAR_018506 commonName VAR_018506
VAR_018506 disease phenotype-associated
VAR_018506 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
VAR_018507 commonName VAR_018507
VAR_018507 disease phenotype-associated
VAR_018507 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]
VAR_018507 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
VAR_018508 commonName VAR_018508
VAR_018508 disease phenotype-associated
VAR_018508 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]
VAR_018509 commonName VAR_018509
VAR_018509 disease phenotype-associated
VAR_018509 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
VAR_018510 commonName VAR_018510
VAR_018510 disease phenotype-associated
VAR_018510 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
VAR_018511 commonName VAR_018511
VAR_018511 disease phenotype-associated
VAR_018511 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_018512 commonName VAR_018512
VAR_018512 disease phenotype-associated
VAR_018512 phenoCommon Lung cancer (LNCR) [MIM:211980]
VAR_018513 commonName VAR_018513
VAR_018513 disease phenotype-associated
VAR_018513 phenoCommon Lung cancer (LNCR) [MIM:211980]
VAR_018514 commonName VAR_018514
VAR_018514 disease phenotype-associated
VAR_018514 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_018515 commonName VAR_018515
VAR_018516 commonName VAR_018516
VAR_018516 disease not phenotype-associated
VAR_018517 commonName VAR_018517
VAR_018517 disease phenotype-associated
VAR_018517 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_018518 commonName VAR_018518
VAR_018518 disease phenotype-associated
VAR_018518 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310]
VAR_018520 commonName VAR_018520
VAR_018520 disease phenotype-associated
VAR_018520 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018521 commonName VAR_018521
VAR_018521 disease not phenotype-associated
VAR_018522 commonName VAR_018522
VAR_018522 disease phenotype-associated
VAR_018522 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018523 commonName VAR_018523
VAR_018523 disease phenotype-associated
VAR_018523 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018524 commonName VAR_018524
VAR_018524 disease phenotype-associated
VAR_018524 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018526 commonName VAR_018526
VAR_018526 disease not phenotype-associated
VAR_018527 commonName VAR_018527
VAR_018527 disease phenotype-associated
VAR_018527 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018528 commonName VAR_018528
VAR_018528 disease phenotype-associated
VAR_018528 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018529 commonName VAR_018529
VAR_018529 disease not phenotype-associated
VAR_018530 commonName VAR_018530
VAR_018530 disease phenotype-associated
VAR_018530 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018531 commonName VAR_018531
VAR_018531 disease not phenotype-associated
VAR_018532 commonName VAR_018532
VAR_018532 disease phenotype-associated
VAR_018532 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018533 commonName VAR_018533
VAR_018533 disease phenotype-associated
VAR_018533 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018534 commonName VAR_018534
VAR_018534 disease not phenotype-associated
VAR_018535 commonName VAR_018535
VAR_018535 disease phenotype-associated
VAR_018535 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018536 commonName VAR_018536
VAR_018536 disease phenotype-associated
VAR_018536 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018537 commonName VAR_018537
VAR_018537 disease phenotype-associated
VAR_018537 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018538 commonName VAR_018538
VAR_018538 disease not phenotype-associated
VAR_018539 commonName VAR_018539
VAR_018539 disease phenotype-associated
VAR_018539 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018540 commonName VAR_018540
VAR_018540 disease phenotype-associated
VAR_018540 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018541 commonName VAR_018541
VAR_018541 disease phenotype-associated
VAR_018541 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018542 commonName VAR_018542
VAR_018542 disease phenotype-associated
VAR_018542 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018543 commonName VAR_018543
VAR_018543 disease not phenotype-associated
VAR_018544 commonName VAR_018544
VAR_018544 disease not phenotype-associated
VAR_018545 commonName VAR_018545
VAR_018545 disease not phenotype-associated
VAR_018546 commonName VAR_018546
VAR_018546 disease phenotype-associated
VAR_018546 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018547 commonName VAR_018547
VAR_018547 disease phenotype-associated
VAR_018547 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018548 commonName VAR_018548
VAR_018548 disease phenotype-associated
VAR_018548 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018549 commonName VAR_018549
VAR_018549 disease phenotype-associated
VAR_018549 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018550 commonName VAR_018550
VAR_018550 disease not phenotype-associated
VAR_018551 commonName VAR_018551
VAR_018551 disease phenotype-associated
VAR_018551 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018552 commonName VAR_018552
VAR_018552 disease phenotype-associated
VAR_018552 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018553 commonName VAR_018553
VAR_018553 disease phenotype-associated
VAR_018553 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018554 commonName VAR_018554
VAR_018554 disease phenotype-associated
VAR_018554 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018555 commonName VAR_018555
VAR_018555 disease phenotype-associated
VAR_018555 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018556 commonName VAR_018556
VAR_018556 disease not phenotype-associated
VAR_018557 commonName VAR_018557
VAR_018557 disease phenotype-associated
VAR_018557 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018558 commonName VAR_018558
VAR_018558 disease phenotype-associated
VAR_018558 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018559 commonName VAR_018559
VAR_018559 disease phenotype-associated
VAR_018559 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018560 commonName VAR_018560
VAR_018560 disease phenotype-associated
VAR_018560 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018561 commonName VAR_018561
VAR_018561 disease phenotype-associated
VAR_018561 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018562 commonName VAR_018562
VAR_018562 disease phenotype-associated
VAR_018562 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018563 commonName VAR_018563
VAR_018563 disease phenotype-associated
VAR_018563 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018564 commonName VAR_018564
VAR_018564 disease not phenotype-associated
VAR_018565 commonName VAR_018565
VAR_018565 disease phenotype-associated
VAR_018565 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018566 commonName VAR_018566
VAR_018566 disease phenotype-associated
VAR_018566 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018567 commonName VAR_018567
VAR_018567 disease phenotype-associated
VAR_018567 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018568 commonName VAR_018568
VAR_018568 disease phenotype-associated
VAR_018568 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018569 commonName VAR_018569
VAR_018569 disease phenotype-associated
VAR_018569 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018570 commonName VAR_018570
VAR_018570 disease phenotype-associated
VAR_018570 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018571 commonName VAR_018571
VAR_018571 disease not phenotype-associated
VAR_018572 commonName VAR_018572
VAR_018572 disease phenotype-associated
VAR_018572 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018573 commonName VAR_018573
VAR_018573 disease phenotype-associated
VAR_018573 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018574 commonName VAR_018574
VAR_018574 disease phenotype-associated
VAR_018574 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018575 commonName VAR_018575
VAR_018575 disease not phenotype-associated
VAR_018576 commonName VAR_018576
VAR_018576 disease phenotype-associated
VAR_018576 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018577 commonName VAR_018577
VAR_018577 disease not phenotype-associated
VAR_018578 commonName VAR_018578
VAR_018578 disease not phenotype-associated
VAR_018579 commonName VAR_018579
VAR_018579 disease phenotype-associated
VAR_018579 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018580 commonName VAR_018580
VAR_018580 disease not phenotype-associated
VAR_018581 commonName VAR_018581
VAR_018581 disease phenotype-associated
VAR_018581 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018582 commonName VAR_018582
VAR_018582 disease phenotype-associated
VAR_018582 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018583 commonName VAR_018583
VAR_018583 disease phenotype-associated
VAR_018583 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018584 commonName VAR_018584
VAR_018584 disease phenotype-associated
VAR_018584 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018585 commonName VAR_018585
VAR_018585 disease not phenotype-associated
VAR_018586 commonName VAR_018586
VAR_018586 disease phenotype-associated
VAR_018586 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018587 commonName VAR_018587
VAR_018587 disease phenotype-associated
VAR_018587 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018588 commonName VAR_018588
VAR_018588 disease not phenotype-associated
VAR_018589 commonName VAR_018589
VAR_018589 disease phenotype-associated
VAR_018589 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018590 commonName VAR_018590
VAR_018590 disease phenotype-associated
VAR_018590 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018591 commonName VAR_018591
VAR_018591 disease phenotype-associated
VAR_018591 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018592 commonName VAR_018592
VAR_018592 disease phenotype-associated
VAR_018592 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018593 commonName VAR_018593
VAR_018593 disease not phenotype-associated
VAR_018594 commonName VAR_018594
VAR_018594 disease phenotype-associated
VAR_018594 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018595 commonName VAR_018595
VAR_018595 disease not phenotype-associated
VAR_018596 commonName VAR_018596
VAR_018596 disease phenotype-associated
VAR_018596 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018597 commonName VAR_018597
VAR_018597 disease phenotype-associated
VAR_018597 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_018598 commonName VAR_018598
VAR_018598 disease not phenotype-associated
VAR_018599 commonName VAR_018599
VAR_018599 disease not phenotype-associated
VAR_018600 commonName VAR_018600
VAR_018600 disease not phenotype-associated
VAR_018601 commonName VAR_018601
VAR_018601 disease not phenotype-associated
VAR_018602 commonName VAR_018602
VAR_018602 disease not phenotype-associated
VAR_018603 commonName VAR_018603
VAR_018603 disease phenotype-associated
VAR_018603 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_018604 commonName VAR_018604
VAR_018604 disease phenotype-associated
VAR_018604 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_018605 commonName VAR_018605
VAR_018605 disease phenotype-associated
VAR_018605 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_018606 commonName VAR_018606
VAR_018606 disease not phenotype-associated
VAR_018607 commonName VAR_018607
VAR_018607 disease phenotype-associated
VAR_018607 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018608 commonName VAR_018608
VAR_018608 disease phenotype-associated
VAR_018608 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018609 commonName VAR_018609
VAR_018609 disease phenotype-associated
VAR_018609 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018610 commonName VAR_018610
VAR_018610 disease phenotype-associated
VAR_018610 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018611 commonName VAR_018611
VAR_018611 disease phenotype-associated
VAR_018611 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018612 commonName VAR_018612
VAR_018612 disease phenotype-associated
VAR_018612 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_018613 commonName VAR_018613
VAR_018613 disease phenotype-associated
VAR_018613 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_018614 commonName VAR_018614
VAR_018614 disease phenotype-associated
VAR_018614 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_018615 commonName VAR_018615
VAR_018615 disease phenotype-associated
VAR_018615 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_018616 comment A colorectal cancer cell line
VAR_018616 commonName VAR_018616
VAR_018617 comment Melanoma
VAR_018617 commonName VAR_018617
VAR_018618 comment Melanoma
VAR_018618 commonName VAR_018618
VAR_018619 commonName VAR_018619
VAR_018619 disease phenotype-associated
VAR_018619 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_018620 commonName VAR_018620
VAR_018620 disease phenotype-associated
VAR_018620 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027]
VAR_018621 commonName VAR_018621
VAR_018621 disease phenotype-associated
VAR_018621 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_018622 commonName VAR_018622
VAR_018622 disease phenotype-associated
VAR_018622 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027]
VAR_018623 comment Ovarian cancer
VAR_018623 commonName VAR_018623
VAR_018624 commonName VAR_018624
VAR_018624 disease phenotype-associated
VAR_018624 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027]
VAR_018625 comment Colon cancer
VAR_018625 commonName VAR_018625
VAR_018625 disease phenotype-associated
VAR_018625 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_018626 comment A colorectal adenocarcinoma sample
VAR_018626 commonName VAR_018626
VAR_018627 commonName VAR_018627
VAR_018627 disease phenotype-associated
VAR_018627 phenoCommon Noonan syndrome type 7 (NS7) [MIM:613706]
VAR_018628 comment A melanoma cell line
VAR_018628 commonName VAR_018628
VAR_018629 comment Sarcoma
VAR_018629 commonName VAR_018629
VAR_018630 commonName VAR_018630
VAR_018630 disease phenotype-associated
VAR_018630 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_018631 commonName VAR_018631
VAR_018631 disease phenotype-associated
VAR_018631 phenoCommon Refsum disease (RD) [MIM:266500]
VAR_018633 commonName VAR_018633
VAR_018633 disease not phenotype-associated
VAR_018634 commonName VAR_018634
VAR_018634 disease not phenotype-associated
VAR_018635 commonName VAR_018635
VAR_018635 disease not phenotype-associated
VAR_018636 commonName VAR_018636
VAR_018636 disease not phenotype-associated
VAR_018637 commonName VAR_018637
VAR_018637 disease not phenotype-associated
VAR_018638 commonName VAR_018638
VAR_018638 disease not phenotype-associated
VAR_018639 commonName VAR_018639
VAR_018639 disease not phenotype-associated
VAR_018640 commonName VAR_018640
VAR_018640 disease not phenotype-associated
VAR_018641 commonName VAR_018641
VAR_018641 disease not phenotype-associated
VAR_018647 commonName VAR_018647
VAR_018647 disease phenotype-associated
VAR_018647 phenoCommon Infantile Refsum disease (IRD) [MIM:266510]
VAR_018648 commonName VAR_018648
VAR_018648 disease phenotype-associated
VAR_018648 phenoCommon Zellweger syndrome (ZWS) [MIM:214100]
VAR_018649 commonName VAR_018649
VAR_018649 disease phenotype-associated
VAR_018649 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370]
VAR_018650 commonName VAR_018650
VAR_018651 commonName VAR_018651
VAR_018651 disease phenotype-associated
VAR_018651 phenoCommon Fanconi-Bickel syndrome (FBS) [MIM:227810]
VAR_018654 commonName VAR_018654
VAR_018655 commonName VAR_018655
VAR_018655 disease phenotype-associated
VAR_018655 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]
VAR_018656 commonName VAR_018656
VAR_018656 disease phenotype-associated
VAR_018656 phenoCommon Leigh syndrome French-Canadian type (LSFC) [MIM:220111]
VAR_018657 commonName VAR_018657
VAR_018657 disease phenotype-associated
VAR_018657 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_018658 commonName VAR_018658
VAR_018658 disease phenotype-associated
VAR_018658 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_018659 commonName VAR_018659
VAR_018659 disease phenotype-associated
VAR_018659 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_018660 commonName VAR_018660
VAR_018660 disease phenotype-associated
VAR_018660 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090]
VAR_018661 commonName VAR_018661
VAR_018661 disease phenotype-associated
VAR_018661 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_018662 commonName VAR_018662
VAR_018662 disease not phenotype-associated
VAR_018663 commonName VAR_018663
VAR_018663 disease not phenotype-associated
VAR_018664 commonName VAR_018664
VAR_018664 disease not phenotype-associated
VAR_018671 commonName VAR_018671
VAR_018671 disease not phenotype-associated
VAR_018672 commonName VAR_018672
VAR_018672 disease not phenotype-associated
VAR_018673 commonName VAR_018673
VAR_018673 disease not phenotype-associated
VAR_018674 commonName VAR_018674
VAR_018674 disease not phenotype-associated
VAR_018675 commonName VAR_018675
VAR_018675 disease not phenotype-associated
VAR_018676 commonName VAR_018676
VAR_018676 disease not phenotype-associated
VAR_018677 commonName VAR_018677
VAR_018677 disease not phenotype-associated
VAR_018678 commonName VAR_018678
VAR_018678 disease not phenotype-associated
VAR_018679 commonName VAR_018679
VAR_018679 disease not phenotype-associated
VAR_018680 commonName VAR_018680
VAR_018680 disease not phenotype-associated
VAR_018681 commonName VAR_018681
VAR_018681 disease not phenotype-associated
VAR_018682 commonName VAR_018682
VAR_018682 disease not phenotype-associated
VAR_018683 commonName VAR_018683
VAR_018683 disease not phenotype-associated
VAR_018684 commonName VAR_018684
VAR_018684 disease phenotype-associated
VAR_018684 phenoCommon Salla disease (SD) [MIM:604369]
VAR_018685 commonName VAR_018685
VAR_018685 disease phenotype-associated
VAR_018685 phenoCommon Salla disease (SD) [MIM:604369]
VAR_018686 commonName VAR_018686
VAR_018686 disease phenotype-associated
VAR_018686 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920]
VAR_018688 commonName VAR_018688
VAR_018688 disease phenotype-associated
VAR_018688 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920]
VAR_018689 commonName VAR_018689
VAR_018689 disease phenotype-associated
VAR_018689 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920]
VAR_018690 commonName VAR_018690
VAR_018690 disease not phenotype-associated
VAR_018691 commonName VAR_018691
VAR_018691 disease phenotype-associated
VAR_018691 phenoCommon Lipoid proteinosis (LiP) [MIM:247100]
VAR_018718 commonName VAR_018718
VAR_018718 disease phenotype-associated
VAR_018718 phenoCommon Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]
VAR_018719 commonName VAR_018719
VAR_018719 disease phenotype-associated
VAR_018719 phenoCommon Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]
VAR_018720 commonName VAR_018720
VAR_018720 disease phenotype-associated
VAR_018720 phenoCommon Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]
VAR_018721 commonName VAR_018721
VAR_018721 disease phenotype-associated
VAR_018721 phenoCommon Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]
VAR_018722 commonName VAR_018722
VAR_018722 disease phenotype-associated
VAR_018722 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]
VAR_018723 commonName VAR_018723
VAR_018723 disease phenotype-associated
VAR_018723 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]
VAR_018724 commonName VAR_018724
VAR_018724 disease phenotype-associated
VAR_018724 phenoCommon Griscelli syndrome type 3 (GS3) [MIM:609227]
VAR_018725 commonName VAR_018725
VAR_018725 disease phenotype-associated
VAR_018725 phenoCommon Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]
VAR_018727 commonName VAR_018727
VAR_018727 disease phenotype-associated
VAR_018727 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
VAR_018728 commonName VAR_018728
VAR_018728 disease phenotype-associated
VAR_018728 phenoCommon Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]
VAR_018729 commonName VAR_018729
VAR_018729 disease not phenotype-associated
VAR_018730 commonName VAR_018730
VAR_018730 disease not phenotype-associated
VAR_018731 commonName VAR_018731
VAR_018731 disease not phenotype-associated
VAR_018732 commonName VAR_018732
VAR_018732 disease not phenotype-associated
VAR_018733 commonName VAR_018733
VAR_018733 disease not phenotype-associated
VAR_018734 commonName VAR_018734
VAR_018734 disease not phenotype-associated
VAR_018738 commonName VAR_018738
VAR_018738 disease not phenotype-associated
VAR_018739 commonName VAR_018739
VAR_018739 disease not phenotype-associated
VAR_018740 commonName VAR_018740
VAR_018740 disease not phenotype-associated
VAR_018741 commonName VAR_018741
VAR_018742 commonName VAR_018742
VAR_018742 disease not phenotype-associated
VAR_018743 commonName VAR_018743
VAR_018743 disease not phenotype-associated
VAR_018744 commonName VAR_018744
VAR_018744 disease not phenotype-associated
VAR_018745 commonName VAR_018745
VAR_018745 disease not phenotype-associated
VAR_018746 commonName VAR_018746
VAR_018746 disease not phenotype-associated
VAR_018747 commonName VAR_018747
VAR_018747 disease not phenotype-associated
VAR_018748 commonName VAR_018748
VAR_018748 disease not phenotype-associated
VAR_018749 commonName VAR_018749
VAR_018749 disease not phenotype-associated
VAR_018750 commonName VAR_018750
VAR_018750 disease not phenotype-associated
VAR_018751 commonName VAR_018751
VAR_018751 disease not phenotype-associated
VAR_018752 commonName VAR_018752
VAR_018752 disease not phenotype-associated
VAR_018753 commonName VAR_018753
VAR_018753 disease not phenotype-associated
VAR_018754 commonName VAR_018754
VAR_018754 disease not phenotype-associated
VAR_018755 commonName VAR_018755
VAR_018755 disease not phenotype-associated
VAR_018756 commonName VAR_018756
VAR_018756 disease not phenotype-associated
VAR_018757 commonName VAR_018757
VAR_018757 disease not phenotype-associated
VAR_018758 commonName VAR_018758
VAR_018758 disease not phenotype-associated
VAR_018759 commonName VAR_018759
VAR_018759 disease not phenotype-associated
VAR_018760 commonName VAR_018760
VAR_018760 disease not phenotype-associated
VAR_018761 commonName VAR_018761
VAR_018761 disease not phenotype-associated
VAR_018762 commonName VAR_018762
VAR_018762 disease not phenotype-associated
VAR_018763 commonName VAR_018763
VAR_018763 disease not phenotype-associated
VAR_018764 commonName VAR_018764
VAR_018764 disease not phenotype-associated
VAR_018765 commonName VAR_018765
VAR_018765 disease not phenotype-associated
VAR_018766 commonName VAR_018766
VAR_018766 disease not phenotype-associated
VAR_018767 commonName VAR_018767
VAR_018767 disease not phenotype-associated
VAR_018768 commonName VAR_018768
VAR_018768 disease not phenotype-associated
VAR_018771 commonName VAR_018771
VAR_018771 disease phenotype-associated
VAR_018771 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_018772 commonName VAR_018772
VAR_018772 disease phenotype-associated
VAR_018772 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_018773 commonName VAR_018773
VAR_018773 disease phenotype-associated
VAR_018773 phenoCommon Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]
VAR_018773 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_018774 commonName VAR_018774
VAR_018774 disease phenotype-associated
VAR_018774 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_018774 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_018776 commonName VAR_018776
VAR_018776 disease phenotype-associated
VAR_018776 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]
VAR_018777 commonName VAR_018777
VAR_018777 disease phenotype-associated
VAR_018777 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_018778 commonName VAR_018778
VAR_018778 disease phenotype-associated
VAR_018778 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_018779 commonName VAR_018779
VAR_018779 disease phenotype-associated
VAR_018779 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]
VAR_018780 commonName VAR_018780
VAR_018780 disease phenotype-associated
VAR_018780 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_018781 commonName VAR_018781
VAR_018781 disease not phenotype-associated
VAR_018782 commonName VAR_018782
VAR_018782 disease not phenotype-associated
VAR_018783 commonName VAR_018783
VAR_018783 disease not phenotype-associated
VAR_018784 commonName VAR_018784
VAR_018784 disease not phenotype-associated
VAR_018785 commonName VAR_018785
VAR_018785 disease not phenotype-associated
VAR_018786 commonName VAR_018786
VAR_018786 disease not phenotype-associated
VAR_018787 commonName VAR_018787
VAR_018787 disease not phenotype-associated
VAR_018788 commonName VAR_018788
VAR_018788 disease phenotype-associated
VAR_018788 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_018789 commonName VAR_018789
VAR_018789 disease not phenotype-associated
VAR_018790 commonName VAR_018790
VAR_018790 disease phenotype-associated
VAR_018790 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]
VAR_018791 commonName VAR_018791
VAR_018791 disease phenotype-associated
VAR_018791 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_018792 commonName VAR_018792
VAR_018792 disease not phenotype-associated
VAR_018793 commonName VAR_018793
VAR_018793 disease not phenotype-associated
VAR_018794 commonName VAR_018794
VAR_018794 disease phenotype-associated
VAR_018794 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_018795 commonName VAR_018795
VAR_018795 disease phenotype-associated
VAR_018795 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_018796 commonName VAR_018796
VAR_018796 disease phenotype-associated
VAR_018796 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_018797 commonName VAR_018797
VAR_018797 disease phenotype-associated
VAR_018797 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_018798 commonName VAR_018798
VAR_018798 disease phenotype-associated
VAR_018798 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_018802 commonName VAR_018802
VAR_018802 disease not phenotype-associated
VAR_018803 commonName VAR_018803
VAR_018803 disease not phenotype-associated
VAR_018804 commonName VAR_018804
VAR_018804 disease not phenotype-associated
VAR_018805 commonName VAR_018805
VAR_018805 disease not phenotype-associated
VAR_018808 commonName VAR_018808
VAR_018808 disease not phenotype-associated
VAR_018809 commonName VAR_018809
VAR_018809 disease not phenotype-associated
VAR_018810 commonName VAR_018810
VAR_018810 disease not phenotype-associated
VAR_018816 commonName VAR_018816
VAR_018816 disease not phenotype-associated
VAR_018817 commonName VAR_018817
VAR_018817 disease not phenotype-associated
VAR_018818 commonName VAR_018818
VAR_018818 disease not phenotype-associated
VAR_018819 commonName VAR_018819
VAR_018819 disease not phenotype-associated
VAR_018820 commonName VAR_018820
VAR_018820 disease not phenotype-associated
VAR_018821 commonName VAR_018821
VAR_018821 disease not phenotype-associated
VAR_018822 commonName VAR_018822
VAR_018822 disease not phenotype-associated
VAR_018823 commonName VAR_018823
VAR_018823 disease not phenotype-associated
VAR_018824 commonName VAR_018824
VAR_018824 disease not phenotype-associated
VAR_018825 commonName VAR_018825
VAR_018825 disease not phenotype-associated
VAR_018826 commonName VAR_018826
VAR_018826 disease not phenotype-associated
VAR_018827 commonName VAR_018827
VAR_018827 disease not phenotype-associated
VAR_018828 commonName VAR_018828
VAR_018828 disease not phenotype-associated
VAR_018829 commonName VAR_018829
VAR_018829 disease not phenotype-associated
VAR_018830 commonName VAR_018830
VAR_018830 disease not phenotype-associated
VAR_018831 commonName VAR_018831
VAR_018831 disease not phenotype-associated
VAR_018832 commonName VAR_018832
VAR_018832 disease not phenotype-associated
VAR_018833 commonName VAR_018833
VAR_018833 disease not phenotype-associated
VAR_018834 commonName VAR_018834
VAR_018834 disease not phenotype-associated
VAR_018835 commonName VAR_018835
VAR_018835 disease not phenotype-associated
VAR_018836 commonName VAR_018836
VAR_018836 disease not phenotype-associated
VAR_018838 commonName VAR_018838
VAR_018838 disease not phenotype-associated
VAR_018840 commonName VAR_018840
VAR_018840 disease not phenotype-associated
VAR_018841 commonName VAR_018841
VAR_018841 disease not phenotype-associated
VAR_018842 commonName VAR_018842
VAR_018842 disease not phenotype-associated
VAR_018843 commonName VAR_018843
VAR_018843 disease not phenotype-associated
VAR_018844 commonName VAR_018844
VAR_018844 disease not phenotype-associated
VAR_018845 commonName VAR_018845
VAR_018845 disease not phenotype-associated
VAR_018846 commonName VAR_018846
VAR_018846 disease not phenotype-associated
VAR_018847 commonName VAR_018847
VAR_018847 disease not phenotype-associated
VAR_018848 commonName VAR_018848
VAR_018848 disease not phenotype-associated
VAR_018849 commonName VAR_018849
VAR_018849 disease not phenotype-associated
VAR_018850 commonName VAR_018850
VAR_018850 disease not phenotype-associated
VAR_018851 commonName VAR_018851
VAR_018851 disease not phenotype-associated
VAR_018852 commonName VAR_018852
VAR_018852 disease not phenotype-associated
VAR_018855 commonName VAR_018855
VAR_018855 disease not phenotype-associated
VAR_018856 commonName VAR_018856
VAR_018856 disease not phenotype-associated
VAR_018857 commonName VAR_018857
VAR_018857 disease not phenotype-associated
VAR_018858 commonName VAR_018858
VAR_018858 disease not phenotype-associated
VAR_018859 commonName VAR_018859
VAR_018859 disease not phenotype-associated
VAR_018860 commonName VAR_018860
VAR_018860 disease not phenotype-associated
VAR_018861 commonName VAR_018861
VAR_018861 disease not phenotype-associated
VAR_018862 commonName VAR_018862
VAR_018862 disease not phenotype-associated
VAR_018863 commonName VAR_018863
VAR_018863 disease not phenotype-associated
VAR_018864 commonName VAR_018864
VAR_018864 disease not phenotype-associated
VAR_018865 commonName VAR_018865
VAR_018865 disease not phenotype-associated
VAR_018866 commonName VAR_018866
VAR_018866 disease not phenotype-associated
VAR_018867 commonName VAR_018867
VAR_018867 disease not phenotype-associated
VAR_018868 commonName VAR_018868
VAR_018868 disease not phenotype-associated
VAR_018869 commonName VAR_018869
VAR_018869 disease not phenotype-associated
VAR_018870 commonName VAR_018870
VAR_018870 disease not phenotype-associated
VAR_018871 commonName VAR_018871
VAR_018871 disease not phenotype-associated
VAR_018872 commonName VAR_018872
VAR_018872 disease not phenotype-associated
VAR_018873 commonName VAR_018873
VAR_018873 disease phenotype-associated
VAR_018873 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_018874 commonName VAR_018874
VAR_018874 disease not phenotype-associated
VAR_018875 commonName VAR_018875
VAR_018875 disease phenotype-associated
VAR_018875 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_018879 commonName VAR_018879
VAR_018879 disease not phenotype-associated
VAR_018880 commonName VAR_018880
VAR_018880 disease not phenotype-associated
VAR_018882 commonName VAR_018882
VAR_018882 disease not phenotype-associated
VAR_018883 commonName VAR_018883
VAR_018883 disease not phenotype-associated
VAR_018884 commonName VAR_018884
VAR_018884 disease not phenotype-associated
VAR_018885 commonName VAR_018885
VAR_018885 disease not phenotype-associated
VAR_018886 commonName VAR_018886
VAR_018886 disease not phenotype-associated
VAR_018887 commonName VAR_018887
VAR_018887 disease not phenotype-associated
VAR_018888 commonName VAR_018888
VAR_018888 disease not phenotype-associated
VAR_018889 commonName VAR_018889
VAR_018889 disease not phenotype-associated
VAR_018890 commonName VAR_018890
VAR_018890 disease not phenotype-associated
VAR_018891 commonName VAR_018891
VAR_018891 disease not phenotype-associated
VAR_018892 commonName VAR_018892
VAR_018892 disease not phenotype-associated
VAR_018894 commonName VAR_018894
VAR_018894 disease not phenotype-associated
VAR_018895 commonName VAR_018895
VAR_018895 disease not phenotype-associated
VAR_018896 commonName VAR_018896
VAR_018896 disease not phenotype-associated
VAR_018897 commonName VAR_018897
VAR_018897 disease not phenotype-associated
VAR_018898 commonName VAR_018898
VAR_018898 disease not phenotype-associated
VAR_018899 commonName VAR_018899
VAR_018899 disease not phenotype-associated
VAR_018900 commonName VAR_018900
VAR_018900 disease not phenotype-associated
VAR_018901 commonName VAR_018901
VAR_018901 disease not phenotype-associated
VAR_018902 commonName VAR_018902
VAR_018902 disease not phenotype-associated
VAR_018903 commonName VAR_018903
VAR_018903 disease not phenotype-associated
VAR_018905 commonName VAR_018905
VAR_018905 disease not phenotype-associated
VAR_018906 commonName VAR_018906
VAR_018906 disease not phenotype-associated
VAR_018907 commonName VAR_018907
VAR_018907 disease not phenotype-associated
VAR_018908 commonName VAR_018908
VAR_018908 disease not phenotype-associated
VAR_018909 commonName VAR_018909
VAR_018909 disease not phenotype-associated
VAR_018910 commonName VAR_018910
VAR_018910 disease not phenotype-associated
VAR_018911 commonName VAR_018911
VAR_018911 disease not phenotype-associated
VAR_018912 commonName VAR_018912
VAR_018912 disease not phenotype-associated
VAR_018913 commonName VAR_018913
VAR_018913 disease not phenotype-associated
VAR_018914 commonName VAR_018914
VAR_018914 disease not phenotype-associated
VAR_018915 commonName VAR_018915
VAR_018915 disease not phenotype-associated
VAR_018916 commonName VAR_018916
VAR_018916 disease not phenotype-associated
VAR_018917 commonName VAR_018917
VAR_018917 disease not phenotype-associated
VAR_018918 commonName VAR_018918
VAR_018918 disease not phenotype-associated
VAR_018919 commonName VAR_018919
VAR_018919 disease not phenotype-associated
VAR_018920 commonName VAR_018920
VAR_018920 disease not phenotype-associated
VAR_018921 commonName VAR_018921
VAR_018921 disease not phenotype-associated
VAR_018922 commonName VAR_018922
VAR_018922 disease not phenotype-associated
VAR_018923 commonName VAR_018923
VAR_018923 disease not phenotype-associated
VAR_018924 commonName VAR_018924
VAR_018924 disease not phenotype-associated
VAR_018925 commonName VAR_018925
VAR_018925 disease not phenotype-associated
VAR_018926 commonName VAR_018926
VAR_018926 disease not phenotype-associated
VAR_018927 commonName VAR_018927
VAR_018927 disease not phenotype-associated
VAR_018928 commonName VAR_018928
VAR_018928 disease not phenotype-associated
VAR_018929 commonName VAR_018929
VAR_018929 disease not phenotype-associated
VAR_018930 commonName VAR_018930
VAR_018930 disease not phenotype-associated
VAR_018931 commonName VAR_018931
VAR_018931 disease not phenotype-associated
VAR_018932 commonName VAR_018932
VAR_018932 disease not phenotype-associated
VAR_018933 commonName VAR_018933
VAR_018933 disease not phenotype-associated
VAR_018934 commonName VAR_018934
VAR_018934 disease not phenotype-associated
VAR_018935 commonName VAR_018935
VAR_018935 disease not phenotype-associated
VAR_018936 commonName VAR_018936
VAR_018936 disease not phenotype-associated
VAR_018937 commonName VAR_018937
VAR_018937 disease not phenotype-associated
VAR_018941 commonName VAR_018941
VAR_018941 disease not phenotype-associated
VAR_018942 commonName VAR_018942
VAR_018942 disease not phenotype-associated
VAR_018943 commonName VAR_018943
VAR_018943 disease not phenotype-associated
VAR_018944 commonName VAR_018944
VAR_018944 disease not phenotype-associated
VAR_018948 commonName VAR_018948
VAR_018948 disease not phenotype-associated
VAR_018949 commonName VAR_018949
VAR_018949 disease not phenotype-associated
VAR_018950 commonName VAR_018950
VAR_018950 disease not phenotype-associated
VAR_018951 commonName VAR_018951
VAR_018951 disease not phenotype-associated
VAR_018952 commonName VAR_018952
VAR_018952 disease not phenotype-associated
VAR_018953 commonName VAR_018953
VAR_018953 disease not phenotype-associated
VAR_018954 commonName VAR_018954
VAR_018954 disease not phenotype-associated
VAR_018955 commonName VAR_018955
VAR_018955 disease not phenotype-associated
VAR_018956 commonName VAR_018956
VAR_018956 disease not phenotype-associated
VAR_018957 commonName VAR_018957
VAR_018957 disease not phenotype-associated
VAR_018958 commonName VAR_018958
VAR_018958 disease not phenotype-associated
VAR_018959 commonName VAR_018959
VAR_018959 disease not phenotype-associated
VAR_018960 commonName VAR_018960
VAR_018960 disease not phenotype-associated
VAR_018961 commonName VAR_018961
VAR_018961 disease not phenotype-associated
VAR_018962 commonName VAR_018962
VAR_018962 disease not phenotype-associated
VAR_018963 commonName VAR_018963
VAR_018963 disease not phenotype-associated
VAR_018964 commonName VAR_018964
VAR_018964 disease not phenotype-associated
VAR_018965 commonName VAR_018965
VAR_018965 disease not phenotype-associated
VAR_018966 commonName VAR_018966
VAR_018966 disease phenotype-associated
VAR_018966 phenoCommon Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]
VAR_018968 commonName VAR_018968
VAR_018968 disease not phenotype-associated
VAR_018969 commonName VAR_018969
VAR_018969 disease not phenotype-associated
VAR_018970 commonName VAR_018970
VAR_018970 disease phenotype-associated
VAR_018970 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018971 commonName VAR_018971
VAR_018971 disease phenotype-associated
VAR_018971 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018972 commonName VAR_018972
VAR_018972 disease not phenotype-associated
VAR_018973 commonName VAR_018973
VAR_018973 disease phenotype-associated
VAR_018973 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018974 commonName VAR_018974
VAR_018974 disease phenotype-associated
VAR_018974 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018975 commonName VAR_018975
VAR_018975 disease phenotype-associated
VAR_018975 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018976 commonName VAR_018976
VAR_018976 disease phenotype-associated
VAR_018976 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018977 commonName VAR_018977
VAR_018977 disease phenotype-associated
VAR_018977 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_018978 commonName VAR_018978
VAR_018978 disease not phenotype-associated
VAR_018979 commonName VAR_018979
VAR_018979 disease not phenotype-associated
VAR_018980 commonName VAR_018980
VAR_018980 disease not phenotype-associated
VAR_018981 commonName VAR_018981
VAR_018981 disease not phenotype-associated
VAR_018982 commonName VAR_018982
VAR_018982 disease not phenotype-associated
VAR_018983 commonName VAR_018983
VAR_018983 disease phenotype-associated
VAR_018983 phenoCommon Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085]
VAR_018984 commonName VAR_018984
VAR_018984 disease not phenotype-associated
VAR_018985 commonName VAR_018985
VAR_018985 disease not phenotype-associated
VAR_018986 commonName VAR_018986
VAR_018986 disease not phenotype-associated
VAR_018987 commonName VAR_018987
VAR_018987 disease not phenotype-associated
VAR_018988 commonName VAR_018988
VAR_018988 disease not phenotype-associated
VAR_018989 commonName VAR_018989
VAR_018989 disease not phenotype-associated
VAR_018990 commonName VAR_018990
VAR_018990 disease not phenotype-associated
VAR_018991 commonName VAR_018991
VAR_018991 disease not phenotype-associated
VAR_018992 commonName VAR_018992
VAR_018992 disease not phenotype-associated
VAR_018993 commonName VAR_018993
VAR_018993 disease not phenotype-associated
VAR_018994 commonName VAR_018994
VAR_018994 disease phenotype-associated
VAR_018994 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_018995 commonName VAR_018995
VAR_018995 disease not phenotype-associated
VAR_018996 commonName VAR_018996
VAR_018996 disease not phenotype-associated
VAR_018998 commonName VAR_018998
VAR_018998 disease phenotype-associated
VAR_018998 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_018999 commonName VAR_018999
VAR_018999 disease phenotype-associated
VAR_018999 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019000 commonName VAR_019000
VAR_019000 disease phenotype-associated
VAR_019000 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019001 commonName VAR_019001
VAR_019001 disease phenotype-associated
VAR_019001 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019002 commonName VAR_019002
VAR_019002 disease phenotype-associated
VAR_019002 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019003 commonName VAR_019003
VAR_019003 disease phenotype-associated
VAR_019003 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019005 commonName VAR_019005
VAR_019005 disease phenotype-associated
VAR_019005 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019007 commonName VAR_019007
VAR_019007 disease not phenotype-associated
VAR_019008 commonName VAR_019008
VAR_019008 disease phenotype-associated
VAR_019008 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019009 commonName VAR_019009
VAR_019009 disease phenotype-associated
VAR_019009 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019011 commonName VAR_019011
VAR_019011 disease phenotype-associated
VAR_019011 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019012 commonName VAR_019012
VAR_019012 disease phenotype-associated
VAR_019012 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019013 commonName VAR_019013
VAR_019013 disease phenotype-associated
VAR_019013 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_019014 commonName VAR_019014
VAR_019014 disease phenotype-associated
VAR_019014 phenoCommon Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]
VAR_019016 commonName VAR_019016
VAR_019017 commonName VAR_019017
VAR_019017 disease phenotype-associated
VAR_019017 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019019 commonName VAR_019019
VAR_019019 disease phenotype-associated
VAR_019019 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019020 commonName VAR_019020
VAR_019020 disease phenotype-associated
VAR_019020 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019021 commonName VAR_019021
VAR_019021 disease phenotype-associated
VAR_019021 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019022 commonName VAR_019022
VAR_019022 disease phenotype-associated
VAR_019022 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019023 commonName VAR_019023
VAR_019023 disease phenotype-associated
VAR_019023 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019024 commonName VAR_019024
VAR_019024 disease phenotype-associated
VAR_019024 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019025 commonName VAR_019025
VAR_019025 disease phenotype-associated
VAR_019025 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019026 commonName VAR_019026
VAR_019026 disease phenotype-associated
VAR_019026 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019027 commonName VAR_019027
VAR_019027 disease phenotype-associated
VAR_019027 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019028 commonName VAR_019028
VAR_019028 disease phenotype-associated
VAR_019028 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019029 commonName VAR_019029
VAR_019029 disease phenotype-associated
VAR_019029 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019030 commonName VAR_019030
VAR_019030 disease phenotype-associated
VAR_019030 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019031 commonName VAR_019031
VAR_019031 disease phenotype-associated
VAR_019031 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019032 commonName VAR_019032
VAR_019032 disease phenotype-associated
VAR_019032 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019033 commonName VAR_019033
VAR_019033 disease phenotype-associated
VAR_019033 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019034 commonName VAR_019034
VAR_019034 disease phenotype-associated
VAR_019034 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
VAR_019036 commonName VAR_019036
VAR_019036 disease phenotype-associated
VAR_019036 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019037 commonName VAR_019037
VAR_019037 disease phenotype-associated
VAR_019037 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019038 commonName VAR_019038
VAR_019038 disease phenotype-associated
VAR_019038 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019039 commonName VAR_019039
VAR_019039 disease phenotype-associated
VAR_019039 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019040 commonName VAR_019040
VAR_019040 disease phenotype-associated
VAR_019040 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019041 commonName VAR_019041
VAR_019041 disease phenotype-associated
VAR_019041 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019042 commonName VAR_019042
VAR_019042 disease phenotype-associated
VAR_019042 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019043 commonName VAR_019043
VAR_019043 disease phenotype-associated
VAR_019043 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019044 commonName VAR_019044
VAR_019044 disease phenotype-associated
VAR_019044 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019045 commonName VAR_019045
VAR_019045 disease phenotype-associated
VAR_019045 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_019049 commonName VAR_019049
VAR_019049 disease not phenotype-associated
VAR_019050 commonName VAR_019050
VAR_019050 disease phenotype-associated
VAR_019050 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_019051 commonName VAR_019051
VAR_019051 disease phenotype-associated
VAR_019051 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_019052 commonName VAR_019052
VAR_019052 disease phenotype-associated
VAR_019052 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_019053 commonName VAR_019053
VAR_019053 disease phenotype-associated
VAR_019053 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_019054 commonName VAR_019054
VAR_019054 disease phenotype-associated
VAR_019054 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_019055 commonName VAR_019055
VAR_019055 disease not phenotype-associated
VAR_019067 commonName VAR_019067
VAR_019067 disease phenotype-associated
VAR_019067 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_019068 commonName VAR_019068
VAR_019068 disease phenotype-associated
VAR_019068 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_019069 commonName VAR_019069
VAR_019069 disease phenotype-associated
VAR_019069 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_019070 commonName VAR_019070
VAR_019070 disease not phenotype-associated
VAR_019071 comment A breast cancer sample
VAR_019071 commonName VAR_019071
VAR_019073 commonName VAR_019073
VAR_019073 disease phenotype-associated
VAR_019073 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019074 commonName VAR_019074
VAR_019074 disease phenotype-associated
VAR_019074 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019075 commonName VAR_019075
VAR_019075 disease phenotype-associated
VAR_019075 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019078 commonName VAR_019078
VAR_019078 disease not phenotype-associated
VAR_019079 commonName VAR_019079
VAR_019079 disease not phenotype-associated
VAR_019080 commonName VAR_019080
VAR_019080 disease not phenotype-associated
VAR_019081 commonName VAR_019081
VAR_019081 disease not phenotype-associated
VAR_019082 commonName VAR_019082
VAR_019082 disease not phenotype-associated
VAR_019083 commonName VAR_019083
VAR_019083 disease not phenotype-associated
VAR_019084 commonName VAR_019084
VAR_019084 disease not phenotype-associated
VAR_019085 commonName VAR_019085
VAR_019085 disease not phenotype-associated
VAR_019086 commonName VAR_019086
VAR_019086 disease not phenotype-associated
VAR_019101 comment An osteogenic sarcoma sample
VAR_019101 commonName VAR_019101
VAR_019102 comment An osteogenic sarcoma sample
VAR_019102 commonName VAR_019102
VAR_019103 commonName VAR_019103
VAR_019103 disease phenotype-associated
VAR_019103 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019104 commonName VAR_019104
VAR_019104 disease phenotype-associated
VAR_019104 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019105 commonName VAR_019105
VAR_019105 disease phenotype-associated
VAR_019105 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019106 commonName VAR_019106
VAR_019106 disease phenotype-associated
VAR_019106 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019107 commonName VAR_019107
VAR_019107 disease phenotype-associated
VAR_019107 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019108 commonName VAR_019108
VAR_019108 disease phenotype-associated
VAR_019108 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019109 commonName VAR_019109
VAR_019109 disease phenotype-associated
VAR_019109 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019110 commonName VAR_019110
VAR_019110 disease phenotype-associated
VAR_019110 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019111 commonName VAR_019111
VAR_019111 disease phenotype-associated
VAR_019111 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019112 commonName VAR_019112
VAR_019112 disease phenotype-associated
VAR_019112 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019113 commonName VAR_019113
VAR_019113 disease phenotype-associated
VAR_019113 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019114 commonName VAR_019114
VAR_019114 disease phenotype-associated
VAR_019114 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_019117 commonName VAR_019117
VAR_019117 disease not phenotype-associated
VAR_019119 commonName VAR_019119
VAR_019119 disease phenotype-associated
VAR_019119 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019120 commonName VAR_019120
VAR_019120 disease phenotype-associated
VAR_019120 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019121 commonName VAR_019121
VAR_019121 disease phenotype-associated
VAR_019121 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]
VAR_019122 commonName VAR_019122
VAR_019122 disease phenotype-associated
VAR_019122 phenoCommon Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611]
VAR_019123 commonName VAR_019123
VAR_019123 disease phenotype-associated
VAR_019123 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_019124 commonName VAR_019124
VAR_019124 disease phenotype-associated
VAR_019124 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_019125 commonName VAR_019125
VAR_019131 commonName VAR_019131
VAR_019131 disease not phenotype-associated
VAR_019132 commonName VAR_019132
VAR_019132 disease not phenotype-associated
VAR_019133 commonName VAR_019133
VAR_019133 disease not phenotype-associated
VAR_019134 commonName VAR_019134
VAR_019134 disease not phenotype-associated
VAR_019135 commonName VAR_019135
VAR_019135 disease not phenotype-associated
VAR_019136 commonName VAR_019136
VAR_019136 disease not phenotype-associated
VAR_019138 commonName VAR_019138
VAR_019138 disease not phenotype-associated
VAR_019139 commonName VAR_019139
VAR_019139 disease not phenotype-associated
VAR_019140 commonName VAR_019140
VAR_019140 disease not phenotype-associated
VAR_019141 commonName VAR_019141
VAR_019141 disease not phenotype-associated
VAR_019142 commonName VAR_019142
VAR_019142 disease not phenotype-associated
VAR_019143 commonName VAR_019143
VAR_019143 disease not phenotype-associated
VAR_019144 commonName VAR_019144
VAR_019144 disease not phenotype-associated
VAR_019145 commonName VAR_019145
VAR_019145 disease not phenotype-associated
VAR_019146 commonName VAR_019146
VAR_019146 disease not phenotype-associated
VAR_019147 commonName VAR_019147
VAR_019147 disease not phenotype-associated
VAR_019148 commonName VAR_019148
VAR_019148 disease not phenotype-associated
VAR_019149 commonName VAR_019149
VAR_019149 disease not phenotype-associated
VAR_019150 commonName VAR_019150
VAR_019150 disease not phenotype-associated
VAR_019151 commonName VAR_019151
VAR_019151 disease not phenotype-associated
VAR_019152 commonName VAR_019152
VAR_019152 disease not phenotype-associated
VAR_019155 commonName VAR_019155
VAR_019155 disease not phenotype-associated
VAR_019156 commonName VAR_019156
VAR_019156 disease not phenotype-associated
VAR_019157 commonName VAR_019157
VAR_019157 disease not phenotype-associated
VAR_019160 commonName VAR_019160
VAR_019160 disease not phenotype-associated
VAR_019161 commonName VAR_019161
VAR_019161 disease not phenotype-associated
VAR_019162 commonName VAR_019162
VAR_019162 disease not phenotype-associated
VAR_019163 commonName VAR_019163
VAR_019163 disease not phenotype-associated
VAR_019164 commonName VAR_019164
VAR_019164 disease not phenotype-associated
VAR_019165 commonName VAR_019165
VAR_019165 disease not phenotype-associated
VAR_019166 commonName VAR_019166
VAR_019166 disease not phenotype-associated
VAR_019167 commonName VAR_019167
VAR_019167 disease not phenotype-associated
VAR_019168 commonName VAR_019168
VAR_019168 disease not phenotype-associated
VAR_019169 commonName VAR_019169
VAR_019169 disease not phenotype-associated
VAR_019170 commonName VAR_019170
VAR_019170 disease not phenotype-associated
VAR_019171 commonName VAR_019171
VAR_019171 disease not phenotype-associated
VAR_019172 commonName VAR_019172
VAR_019172 disease not phenotype-associated
VAR_019173 commonName VAR_019173
VAR_019173 disease not phenotype-associated
VAR_019174 commonName VAR_019174
VAR_019174 disease not phenotype-associated
VAR_019175 commonName VAR_019175
VAR_019175 disease not phenotype-associated
VAR_019176 commonName VAR_019176
VAR_019176 disease not phenotype-associated
VAR_019177 commonName VAR_019177
VAR_019177 disease not phenotype-associated
VAR_019178 commonName VAR_019178
VAR_019178 disease not phenotype-associated
VAR_019179 commonName VAR_019179
VAR_019179 disease not phenotype-associated
VAR_019180 commonName VAR_019180
VAR_019180 disease not phenotype-associated
VAR_019181 commonName VAR_019181
VAR_019181 disease not phenotype-associated
VAR_019182 commonName VAR_019182
VAR_019182 disease not phenotype-associated
VAR_019183 commonName VAR_019183
VAR_019183 disease not phenotype-associated
VAR_019184 commonName VAR_019184
VAR_019184 disease not phenotype-associated
VAR_019185 commonName VAR_019185
VAR_019185 disease not phenotype-associated
VAR_019186 commonName VAR_019186
VAR_019186 disease not phenotype-associated
VAR_019187 commonName VAR_019187
VAR_019187 disease not phenotype-associated
VAR_019188 commonName VAR_019188
VAR_019188 disease not phenotype-associated
VAR_019189 commonName VAR_019189
VAR_019189 disease not phenotype-associated
VAR_019190 commonName VAR_019190
VAR_019190 disease not phenotype-associated
VAR_019191 commonName VAR_019191
VAR_019191 disease not phenotype-associated
VAR_019192 commonName VAR_019192
VAR_019192 disease not phenotype-associated
VAR_019193 commonName VAR_019193
VAR_019193 disease not phenotype-associated
VAR_019194 commonName VAR_019194
VAR_019194 disease not phenotype-associated
VAR_019195 commonName VAR_019195
VAR_019195 disease not phenotype-associated
VAR_019196 commonName VAR_019196
VAR_019196 disease not phenotype-associated
VAR_019197 commonName VAR_019197
VAR_019197 disease not phenotype-associated
VAR_019198 commonName VAR_019198
VAR_019198 disease not phenotype-associated
VAR_019199 commonName VAR_019199
VAR_019199 disease not phenotype-associated
VAR_019200 commonName VAR_019200
VAR_019200 disease not phenotype-associated
VAR_019202 commonName VAR_019202
VAR_019202 disease not phenotype-associated
VAR_019203 commonName VAR_019203
VAR_019203 disease not phenotype-associated
VAR_019204 commonName VAR_019204
VAR_019204 disease not phenotype-associated
VAR_019205 commonName VAR_019205
VAR_019205 disease not phenotype-associated
VAR_019206 commonName VAR_019206
VAR_019206 disease not phenotype-associated
VAR_019207 commonName VAR_019207
VAR_019207 disease not phenotype-associated
VAR_019208 commonName VAR_019208
VAR_019208 disease not phenotype-associated
VAR_019209 commonName VAR_019209
VAR_019209 disease not phenotype-associated
VAR_019210 commonName VAR_019210
VAR_019210 disease not phenotype-associated
VAR_019211 commonName VAR_019211
VAR_019211 disease not phenotype-associated
VAR_019212 commonName VAR_019212
VAR_019212 disease not phenotype-associated
VAR_019213 commonName VAR_019213
VAR_019213 disease not phenotype-associated
VAR_019218 commonName VAR_019218
VAR_019218 disease not phenotype-associated
VAR_019219 commonName VAR_019219
VAR_019219 disease not phenotype-associated
VAR_019220 commonName VAR_019220
VAR_019220 disease not phenotype-associated
VAR_019221 commonName VAR_019221
VAR_019221 disease not phenotype-associated
VAR_019222 commonName VAR_019222
VAR_019222 disease not phenotype-associated
VAR_019223 commonName VAR_019223
VAR_019223 disease not phenotype-associated
VAR_019224 commonName VAR_019224
VAR_019224 disease not phenotype-associated
VAR_019225 commonName VAR_019225
VAR_019225 disease not phenotype-associated
VAR_019226 commonName VAR_019226
VAR_019226 disease not phenotype-associated
VAR_019227 commonName VAR_019227
VAR_019227 disease not phenotype-associated
VAR_019228 commonName VAR_019228
VAR_019228 disease not phenotype-associated
VAR_019229 commonName VAR_019229
VAR_019229 disease not phenotype-associated
VAR_019230 commonName VAR_019230
VAR_019230 disease not phenotype-associated
VAR_019231 commonName VAR_019231
VAR_019231 disease not phenotype-associated
VAR_019232 commonName VAR_019232
VAR_019232 disease not phenotype-associated
VAR_019233 commonName VAR_019233
VAR_019233 disease not phenotype-associated
VAR_019234 commonName VAR_019234
VAR_019234 disease phenotype-associated
VAR_019234 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_019235 commonName VAR_019235
VAR_019235 disease not phenotype-associated
VAR_019236 commonName VAR_019236
VAR_019236 disease not phenotype-associated
VAR_019237 commonName VAR_019237
VAR_019237 disease not phenotype-associated
VAR_019238 commonName VAR_019238
VAR_019238 disease not phenotype-associated
VAR_019239 commonName VAR_019239
VAR_019239 disease not phenotype-associated
VAR_019240 commonName VAR_019240
VAR_019240 disease not phenotype-associated
VAR_019241 commonName VAR_019241
VAR_019241 disease not phenotype-associated
VAR_019242 commonName VAR_019242
VAR_019242 disease not phenotype-associated
VAR_019243 commonName VAR_019243
VAR_019243 disease not phenotype-associated
VAR_019244 commonName VAR_019244
VAR_019244 disease not phenotype-associated
VAR_019245 commonName VAR_019245
VAR_019245 disease not phenotype-associated
VAR_019246 commonName VAR_019246
VAR_019246 disease not phenotype-associated
VAR_019247 commonName VAR_019247
VAR_019247 disease not phenotype-associated
VAR_019248 commonName VAR_019248
VAR_019248 disease not phenotype-associated
VAR_019249 commonName VAR_019249
VAR_019249 disease not phenotype-associated
VAR_019250 commonName VAR_019250
VAR_019250 disease not phenotype-associated
VAR_019251 commonName VAR_019251
VAR_019251 disease not phenotype-associated
VAR_019252 commonName VAR_019252
VAR_019252 disease not phenotype-associated
VAR_019253 commonName VAR_019253
VAR_019253 disease not phenotype-associated
VAR_019254 commonName VAR_019254
VAR_019254 disease not phenotype-associated
VAR_019255 commonName VAR_019255
VAR_019255 disease not phenotype-associated
VAR_019256 commonName VAR_019256
VAR_019256 disease not phenotype-associated
VAR_019257 commonName VAR_019257
VAR_019257 disease not phenotype-associated
VAR_019258 commonName VAR_019258
VAR_019258 disease not phenotype-associated
VAR_019259 commonName VAR_019259
VAR_019259 disease not phenotype-associated
VAR_019260 commonName VAR_019260
VAR_019260 disease not phenotype-associated
VAR_019261 commonName VAR_019261
VAR_019261 disease not phenotype-associated
VAR_019262 commonName VAR_019262
VAR_019262 disease not phenotype-associated
VAR_019263 commonName VAR_019263
VAR_019263 disease not phenotype-associated
VAR_019267 commonName VAR_019267
VAR_019267 disease not phenotype-associated
VAR_019268 commonName VAR_019268
VAR_019268 disease phenotype-associated
VAR_019268 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_019269 commonName VAR_019269
VAR_019269 disease not phenotype-associated
VAR_019270 commonName VAR_019270
VAR_019270 disease phenotype-associated
VAR_019270 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_019271 commonName VAR_019271
VAR_019271 disease phenotype-associated
VAR_019271 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_019272 commonName VAR_019272
VAR_019272 disease phenotype-associated
VAR_019272 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_019273 commonName VAR_019273
VAR_019273 disease phenotype-associated
VAR_019273 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_019274 commonName VAR_019274
VAR_019274 disease phenotype-associated
VAR_019274 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_019275 commonName VAR_019275
VAR_019275 disease phenotype-associated
VAR_019275 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_019276 commonName VAR_019276
VAR_019276 disease phenotype-associated
VAR_019276 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_019277 commonName VAR_019277
VAR_019277 disease not phenotype-associated
VAR_019278 commonName VAR_019278
VAR_019278 disease not phenotype-associated
VAR_019279 commonName VAR_019279
VAR_019279 disease not phenotype-associated
VAR_019280 commonName VAR_019280
VAR_019280 disease not phenotype-associated
VAR_019281 commonName VAR_019281
VAR_019281 disease not phenotype-associated
VAR_019282 commonName VAR_019282
VAR_019282 disease not phenotype-associated
VAR_019283 commonName VAR_019283
VAR_019283 disease not phenotype-associated
VAR_019284 commonName VAR_019284
VAR_019284 disease not phenotype-associated
VAR_019285 commonName VAR_019285
VAR_019285 disease not phenotype-associated
VAR_019286 commonName VAR_019286
VAR_019286 disease not phenotype-associated
VAR_019287 commonName VAR_019287
VAR_019287 disease not phenotype-associated
VAR_019288 commonName VAR_019288
VAR_019288 disease not phenotype-associated
VAR_019289 commonName VAR_019289
VAR_019289 disease not phenotype-associated
VAR_019290 commonName VAR_019290
VAR_019290 disease not phenotype-associated
VAR_019291 commonName VAR_019291
VAR_019291 disease not phenotype-associated
VAR_019292 commonName VAR_019292
VAR_019292 disease not phenotype-associated
VAR_019293 commonName VAR_019293
VAR_019293 disease not phenotype-associated
VAR_019294 commonName VAR_019294
VAR_019294 disease not phenotype-associated
VAR_019295 commonName VAR_019295
VAR_019295 disease not phenotype-associated
VAR_019296 commonName VAR_019296
VAR_019296 disease not phenotype-associated
VAR_019297 commonName VAR_019297
VAR_019298 commonName VAR_019298
VAR_019299 commonName VAR_019299
VAR_019299 disease not phenotype-associated
VAR_019300 commonName VAR_019300
VAR_019300 disease not phenotype-associated
VAR_019301 commonName VAR_019301
VAR_019301 disease not phenotype-associated
VAR_019302 commonName VAR_019302
VAR_019302 disease phenotype-associated
VAR_019302 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019303 commonName VAR_019303
VAR_019303 disease phenotype-associated
VAR_019303 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019304 commonName VAR_019304
VAR_019304 disease phenotype-associated
VAR_019304 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019305 commonName VAR_019305
VAR_019305 disease phenotype-associated
VAR_019305 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019306 commonName VAR_019306
VAR_019306 disease not phenotype-associated
VAR_019307 commonName VAR_019307
VAR_019307 disease phenotype-associated
VAR_019307 phenoCommon AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]
VAR_019308 commonName VAR_019308
VAR_019308 disease phenotype-associated
VAR_019308 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
VAR_019310 commonName VAR_019310
VAR_019310 disease phenotype-associated
VAR_019310 phenoCommon Renal glucosuria (GLYS1) [MIM:233100]
VAR_019311 commonName VAR_019311
VAR_019311 disease phenotype-associated
VAR_019311 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019312 commonName VAR_019312
VAR_019312 disease phenotype-associated
VAR_019312 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019313 commonName VAR_019313
VAR_019313 disease phenotype-associated
VAR_019313 phenoCommon Fertile eunuch syndrome (FEUNS) [MIM:228300]
VAR_019313 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019314 commonName VAR_019314
VAR_019314 disease phenotype-associated
VAR_019314 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019315 commonName VAR_019315
VAR_019315 disease phenotype-associated
VAR_019315 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019316 commonName VAR_019316
VAR_019316 disease phenotype-associated
VAR_019316 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019317 commonName VAR_019317
VAR_019317 disease phenotype-associated
VAR_019317 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019318 commonName VAR_019318
VAR_019318 disease phenotype-associated
VAR_019318 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019319 commonName VAR_019319
VAR_019319 disease phenotype-associated
VAR_019319 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019320 commonName VAR_019320
VAR_019320 disease phenotype-associated
VAR_019320 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_019322 commonName VAR_019322
VAR_019322 disease not phenotype-associated
VAR_019323 commonName VAR_019323
VAR_019323 disease not phenotype-associated
VAR_019325 commonName VAR_019325
VAR_019325 disease not phenotype-associated
VAR_019326 commonName VAR_019326
VAR_019326 disease not phenotype-associated
VAR_019327 commonName VAR_019327
VAR_019327 disease not phenotype-associated
VAR_019328 commonName VAR_019328
VAR_019328 disease not phenotype-associated
VAR_019329 commonName VAR_019329
VAR_019329 disease phenotype-associated
VAR_019329 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019330 commonName VAR_019330
VAR_019330 disease phenotype-associated
VAR_019330 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019331 commonName VAR_019331
VAR_019331 disease phenotype-associated
VAR_019331 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019332 commonName VAR_019332
VAR_019332 disease phenotype-associated
VAR_019332 phenoCommon Familial hibernian fever (FHF) [MIM:142680]
VAR_019333 commonName VAR_019333
VAR_019333 disease not phenotype-associated
VAR_019334 commonName VAR_019334
VAR_019334 disease phenotype-associated
VAR_019334 phenoCommon Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]
VAR_019335 commonName VAR_019335
VAR_019335 disease phenotype-associated
VAR_019335 phenoCommon Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]
VAR_019336 commonName VAR_019336
VAR_019336 disease not phenotype-associated
VAR_019338 commonName VAR_019338
VAR_019338 disease phenotype-associated
VAR_019338 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_019339 commonName VAR_019339
VAR_019339 disease phenotype-associated
VAR_019339 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]
VAR_019340 commonName VAR_019340
VAR_019340 disease not phenotype-associated
VAR_019341 commonName VAR_019341
VAR_019341 disease not phenotype-associated
VAR_019342 commonName VAR_019342
VAR_019342 disease not phenotype-associated
VAR_019343 commonName VAR_019343
VAR_019343 disease not phenotype-associated
VAR_019344 commonName VAR_019344
VAR_019344 disease not phenotype-associated
VAR_019345 commonName VAR_019345
VAR_019345 disease not phenotype-associated
VAR_019346 commonName VAR_019346
VAR_019346 disease not phenotype-associated
VAR_019347 commonName VAR_019347
VAR_019347 disease not phenotype-associated
VAR_019348 commonName VAR_019348
VAR_019348 disease not phenotype-associated
VAR_019349 commonName VAR_019349
VAR_019349 disease not phenotype-associated
VAR_019350 commonName VAR_019350
VAR_019350 disease not phenotype-associated
VAR_019351 commonName VAR_019351
VAR_019351 disease not phenotype-associated
VAR_019352 commonName VAR_019352
VAR_019352 disease not phenotype-associated
VAR_019353 commonName VAR_019353
VAR_019353 disease not phenotype-associated
VAR_019354 commonName VAR_019354
VAR_019354 disease not phenotype-associated
VAR_019357 commonName VAR_019357
VAR_019357 disease not phenotype-associated
VAR_019358 commonName VAR_019358
VAR_019358 disease not phenotype-associated
VAR_019359 commonName VAR_019359
VAR_019359 disease not phenotype-associated
VAR_019360 commonName VAR_019360
VAR_019360 disease not phenotype-associated
VAR_019361 commonName VAR_019361
VAR_019361 disease not phenotype-associated
VAR_019362 commonName VAR_019362
VAR_019362 disease not phenotype-associated
VAR_019363 commonName VAR_019363
VAR_019363 disease not phenotype-associated
VAR_019364 commonName VAR_019364
VAR_019364 disease not phenotype-associated
VAR_019365 commonName VAR_019365
VAR_019365 disease not phenotype-associated
VAR_019366 commonName VAR_019366
VAR_019366 disease not phenotype-associated
VAR_019367 commonName VAR_019367
VAR_019367 disease not phenotype-associated
VAR_019368 commonName VAR_019368
VAR_019368 disease not phenotype-associated
VAR_019369 commonName VAR_019369
VAR_019369 disease phenotype-associated
VAR_019369 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019370 commonName VAR_019370
VAR_019370 disease phenotype-associated
VAR_019370 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019371 commonName VAR_019371
VAR_019371 disease phenotype-associated
VAR_019371 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019373 commonName VAR_019373
VAR_019373 disease phenotype-associated
VAR_019373 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019374 commonName VAR_019374
VAR_019374 disease phenotype-associated
VAR_019374 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019375 commonName VAR_019375
VAR_019375 disease phenotype-associated
VAR_019375 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_019376 commonName VAR_019376
VAR_019376 disease not phenotype-associated
VAR_019377 commonName VAR_019377
VAR_019377 disease not phenotype-associated
VAR_019379 commonName VAR_019379
VAR_019379 disease not phenotype-associated
VAR_019380 commonName VAR_019380
VAR_019380 disease not phenotype-associated
VAR_019392 commonName VAR_019392
VAR_019392 disease not phenotype-associated
VAR_019393 commonName VAR_019393
VAR_019393 disease not phenotype-associated
VAR_019394 commonName VAR_019394
VAR_019394 disease not phenotype-associated
VAR_019395 commonName VAR_019395
VAR_019395 disease not phenotype-associated
VAR_019396 commonName VAR_019396
VAR_019396 disease not phenotype-associated
VAR_019397 commonName VAR_019397
VAR_019397 disease not phenotype-associated
VAR_019399 commonName VAR_019399
VAR_019399 disease phenotype-associated
VAR_019399 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019400 commonName VAR_019400
VAR_019400 disease phenotype-associated
VAR_019400 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019401 commonName VAR_019401
VAR_019401 disease phenotype-associated
VAR_019401 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019402 commonName VAR_019402
VAR_019402 disease phenotype-associated
VAR_019402 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019403 commonName VAR_019403
VAR_019403 disease phenotype-associated
VAR_019403 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019404 commonName VAR_019404
VAR_019404 disease phenotype-associated
VAR_019404 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_019405 commonName VAR_019405
VAR_019405 disease phenotype-associated
VAR_019405 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_019406 commonName VAR_019406
VAR_019406 disease phenotype-associated
VAR_019406 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_019407 commonName VAR_019407
VAR_019407 disease phenotype-associated
VAR_019407 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_019408 commonName VAR_019408
VAR_019408 disease phenotype-associated
VAR_019408 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_019410 commonName VAR_019410
VAR_019410 disease phenotype-associated
VAR_019410 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_019411 commonName VAR_019411
VAR_019411 disease phenotype-associated
VAR_019411 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_019412 commonName VAR_019412
VAR_019412 disease phenotype-associated
VAR_019412 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_019414 commonName VAR_019414
VAR_019414 disease phenotype-associated
VAR_019414 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
VAR_019415 commonName VAR_019415
VAR_019415 disease phenotype-associated
VAR_019415 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300]
VAR_019416 commonName VAR_019416
VAR_019416 disease phenotype-associated
VAR_019416 phenoCommon Langer mesomelic dysplasia (LMD) [MIM:249700]
VAR_019417 commonName VAR_019417
VAR_019417 disease phenotype-associated
VAR_019417 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
VAR_019418 commonName VAR_019418
VAR_019418 disease phenotype-associated
VAR_019418 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
VAR_019419 commonName VAR_019419
VAR_019419 disease phenotype-associated
VAR_019419 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]
VAR_019420 commonName VAR_019420
VAR_019420 disease phenotype-associated
VAR_019420 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]
VAR_019421 commonName VAR_019421
VAR_019421 disease phenotype-associated
VAR_019421 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]
VAR_019423 commonName VAR_019423
VAR_019423 disease not phenotype-associated
VAR_019425 commonName VAR_019425
VAR_019425 disease not phenotype-associated
VAR_019426 commonName VAR_019426
VAR_019426 disease not phenotype-associated
VAR_019427 commonName VAR_019427
VAR_019427 disease not phenotype-associated
VAR_019428 commonName VAR_019428
VAR_019428 disease not phenotype-associated
VAR_019429 commonName VAR_019429
VAR_019429 disease not phenotype-associated
VAR_019431 commonName VAR_019431
VAR_019431 disease not phenotype-associated
VAR_019432 commonName VAR_019432
VAR_019432 disease not phenotype-associated
VAR_019433 commonName VAR_019433
VAR_019433 disease not phenotype-associated
VAR_019434 commonName VAR_019434
VAR_019434 disease not phenotype-associated
VAR_019435 commonName VAR_019435
VAR_019435 disease not phenotype-associated
VAR_019436 commonName VAR_019436
VAR_019436 disease not phenotype-associated
VAR_019437 commonName VAR_019437
VAR_019437 disease not phenotype-associated
VAR_019438 commonName VAR_019438
VAR_019438 disease not phenotype-associated
VAR_019439 commonName VAR_019439
VAR_019439 disease phenotype-associated
VAR_019439 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019440 commonName VAR_019440
VAR_019440 disease phenotype-associated
VAR_019440 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019441 commonName VAR_019441
VAR_019441 disease phenotype-associated
VAR_019441 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019442 commonName VAR_019442
VAR_019442 disease phenotype-associated
VAR_019442 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019444 commonName VAR_019444
VAR_019444 disease phenotype-associated
VAR_019444 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019445 commonName VAR_019445
VAR_019445 disease phenotype-associated
VAR_019445 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019446 commonName VAR_019446
VAR_019446 disease phenotype-associated
VAR_019446 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_019447 commonName VAR_019447
VAR_019447 disease phenotype-associated
VAR_019447 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_019448 commonName VAR_019448
VAR_019448 disease phenotype-associated
VAR_019448 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019450 commonName VAR_019450
VAR_019450 disease phenotype-associated
VAR_019450 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019451 commonName VAR_019451
VAR_019451 disease phenotype-associated
VAR_019451 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019452 commonName VAR_019452
VAR_019452 disease phenotype-associated
VAR_019452 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_019453 commonName VAR_019453
VAR_019453 disease not phenotype-associated
VAR_019454 commonName VAR_019454
VAR_019454 disease not phenotype-associated
VAR_019455 commonName VAR_019455
VAR_019455 disease not phenotype-associated
VAR_019456 commonName VAR_019456
VAR_019456 disease not phenotype-associated
VAR_019457 commonName VAR_019457
VAR_019457 disease not phenotype-associated
VAR_019458 commonName VAR_019458
VAR_019458 disease not phenotype-associated
VAR_019459 commonName VAR_019459
VAR_019459 disease not phenotype-associated
VAR_019461 commonName VAR_019461
VAR_019461 disease not phenotype-associated
VAR_019462 commonName VAR_019462
VAR_019462 disease not phenotype-associated
VAR_019463 commonName VAR_019463
VAR_019463 disease not phenotype-associated
VAR_019464 commonName VAR_019464
VAR_019464 disease not phenotype-associated
VAR_019465 commonName VAR_019465
VAR_019465 disease phenotype-associated
VAR_019465 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019466 commonName VAR_019466
VAR_019466 disease phenotype-associated
VAR_019466 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019467 commonName VAR_019467
VAR_019467 disease phenotype-associated
VAR_019467 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019468 commonName VAR_019468
VAR_019469 commonName VAR_019469
VAR_019469 disease phenotype-associated
VAR_019469 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019470 commonName VAR_019470
VAR_019470 disease phenotype-associated
VAR_019470 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019471 commonName VAR_019471
VAR_019471 disease phenotype-associated
VAR_019471 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019472 commonName VAR_019472
VAR_019472 disease phenotype-associated
VAR_019472 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019473 commonName VAR_019473
VAR_019473 disease not phenotype-associated
VAR_019474 commonName VAR_019474
VAR_019474 disease phenotype-associated
VAR_019474 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019482 commonName VAR_019482
VAR_019482 disease phenotype-associated
VAR_019482 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019483 commonName VAR_019483
VAR_019483 disease phenotype-associated
VAR_019483 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019484 commonName VAR_019484
VAR_019484 disease phenotype-associated
VAR_019484 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019485 commonName VAR_019485
VAR_019485 disease phenotype-associated
VAR_019485 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019486 commonName VAR_019486
VAR_019486 disease not phenotype-associated
VAR_019487 commonName VAR_019487
VAR_019487 disease phenotype-associated
VAR_019487 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019488 commonName VAR_019488
VAR_019488 disease phenotype-associated
VAR_019488 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_019489 commonName VAR_019489
VAR_019489 disease not phenotype-associated
VAR_019490 commonName VAR_019490
VAR_019490 disease not phenotype-associated
VAR_019491 commonName VAR_019491
VAR_019491 disease not phenotype-associated
VAR_019492 commonName VAR_019492
VAR_019492 disease not phenotype-associated
VAR_019493 commonName VAR_019493
VAR_019493 disease not phenotype-associated
VAR_019494 commonName VAR_019494
VAR_019494 disease not phenotype-associated
VAR_019495 commonName VAR_019495
VAR_019495 disease not phenotype-associated
VAR_019496 commonName VAR_019496
VAR_019496 disease not phenotype-associated
VAR_019497 commonName VAR_019497
VAR_019497 disease not phenotype-associated
VAR_019498 commonName VAR_019498
VAR_019498 disease not phenotype-associated
VAR_019499 commonName VAR_019499
VAR_019499 disease not phenotype-associated
VAR_019500 commonName VAR_019500
VAR_019500 disease not phenotype-associated
VAR_019501 commonName VAR_019501
VAR_019501 disease not phenotype-associated
VAR_019502 commonName VAR_019502
VAR_019502 disease not phenotype-associated
VAR_019503 commonName VAR_019503
VAR_019503 disease not phenotype-associated
VAR_019504 commonName VAR_019504
VAR_019504 disease not phenotype-associated
VAR_019505 commonName VAR_019505
VAR_019505 disease not phenotype-associated
VAR_019506 commonName VAR_019506
VAR_019506 disease not phenotype-associated
VAR_019507 commonName VAR_019507
VAR_019507 disease not phenotype-associated
VAR_019509 commonName VAR_019509
VAR_019509 disease not phenotype-associated
VAR_019510 commonName VAR_019510
VAR_019510 disease not phenotype-associated
VAR_019511 commonName VAR_019511
VAR_019511 disease not phenotype-associated
VAR_019512 commonName VAR_019512
VAR_019512 disease not phenotype-associated
VAR_019513 commonName VAR_019513
VAR_019513 disease not phenotype-associated
VAR_019514 commonName VAR_019514
VAR_019514 disease not phenotype-associated
VAR_019515 commonName VAR_019515
VAR_019515 disease not phenotype-associated
VAR_019516 commonName VAR_019516
VAR_019516 disease not phenotype-associated
VAR_019518 commonName VAR_019518
VAR_019518 disease not phenotype-associated
VAR_019519 commonName VAR_019519
VAR_019519 disease phenotype-associated
VAR_019519 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_019520 commonName VAR_019520
VAR_019520 disease phenotype-associated
VAR_019520 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_019521 commonName VAR_019521
VAR_019521 disease phenotype-associated
VAR_019521 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_019522 commonName VAR_019522
VAR_019522 disease not phenotype-associated
VAR_019523 commonName VAR_019523
VAR_019523 disease phenotype-associated
VAR_019523 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_019524 commonName VAR_019524
VAR_019524 disease phenotype-associated
VAR_019524 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_019525 commonName VAR_019525
VAR_019525 disease not phenotype-associated
VAR_019526 commonName VAR_019526
VAR_019526 disease not phenotype-associated
VAR_019528 commonName VAR_019528
VAR_019528 disease not phenotype-associated
VAR_019529 commonName VAR_019529
VAR_019529 disease not phenotype-associated
VAR_019530 commonName VAR_019530
VAR_019530 disease not phenotype-associated
VAR_019531 commonName VAR_019531
VAR_019531 disease not phenotype-associated
VAR_019532 commonName VAR_019532
VAR_019532 disease phenotype-associated
VAR_019532 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019533 commonName VAR_019533
VAR_019533 disease phenotype-associated
VAR_019533 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019534 commonName VAR_019534
VAR_019534 disease phenotype-associated
VAR_019534 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019535 commonName VAR_019535
VAR_019535 disease phenotype-associated
VAR_019535 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019536 commonName VAR_019536
VAR_019536 disease phenotype-associated
VAR_019536 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019537 commonName VAR_019537
VAR_019537 disease phenotype-associated
VAR_019537 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_019538 commonName VAR_019538
VAR_019538 disease phenotype-associated
VAR_019538 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_019539 commonName VAR_019539
VAR_019539 disease phenotype-associated
VAR_019539 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_019540 commonName VAR_019540
VAR_019540 disease not phenotype-associated
VAR_019541 commonName VAR_019541
VAR_019541 disease not phenotype-associated
VAR_019542 commonName VAR_019542
VAR_019542 disease not phenotype-associated
VAR_019543 commonName VAR_019543
VAR_019543 disease not phenotype-associated
VAR_019544 commonName VAR_019544
VAR_019544 disease not phenotype-associated
VAR_019545 commonName VAR_019545
VAR_019546 commonName VAR_019546
VAR_019546 disease not phenotype-associated
VAR_019549 commonName VAR_019549
VAR_019549 disease not phenotype-associated
VAR_019550 commonName VAR_019550
VAR_019550 disease not phenotype-associated
VAR_019551 commonName VAR_019551
VAR_019551 disease not phenotype-associated
VAR_019556 commonName VAR_019556
VAR_019556 disease not phenotype-associated
VAR_019558 commonName VAR_019558
VAR_019558 disease not phenotype-associated
VAR_019559 comment A colon adenocarcinoma sample
VAR_019559 commonName VAR_019559
VAR_019560 commonName VAR_019560
VAR_019560 disease not phenotype-associated
VAR_019561 comment A breast cancer sample
VAR_019561 commonName VAR_019561
VAR_019562 comment A non-Hodgkin lymphoma sample
VAR_019562 commonName VAR_019562
VAR_019563 comment A colon cancer sample
VAR_019563 commonName VAR_019563
VAR_019564 comment A non-Hodgkin lymphoma sample
VAR_019564 commonName VAR_019564
VAR_019565 commonName VAR_019565
VAR_019565 disease not phenotype-associated
VAR_019566 commonName VAR_019566
VAR_019566 disease phenotype-associated
VAR_019566 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_019567 commonName VAR_019567
VAR_019567 disease phenotype-associated
VAR_019567 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_019568 commonName VAR_019568
VAR_019568 disease phenotype-associated
VAR_019568 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_019569 commonName VAR_019569
VAR_019569 disease phenotype-associated
VAR_019569 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]
VAR_019570 commonName VAR_019570
VAR_019570 disease phenotype-associated
VAR_019570 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]
VAR_019571 commonName VAR_019571
VAR_019571 disease phenotype-associated
VAR_019571 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_019571 phenoCommon Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]
VAR_019572 commonName VAR_019572
VAR_019572 disease phenotype-associated
VAR_019572 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_019573 commonName VAR_019573
VAR_019573 disease phenotype-associated
VAR_019573 phenoCommon Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]
VAR_019574 commonName VAR_019574
VAR_019574 disease not phenotype-associated
VAR_019576 commonName VAR_019576
VAR_019576 disease not phenotype-associated
VAR_019577 commonName VAR_019577
VAR_019577 disease not phenotype-associated
VAR_019578 commonName VAR_019578
VAR_019578 disease not phenotype-associated
VAR_019579 commonName VAR_019579
VAR_019579 disease not phenotype-associated
VAR_019580 commonName VAR_019580
VAR_019580 disease not phenotype-associated
VAR_019581 commonName VAR_019581
VAR_019581 disease not phenotype-associated
VAR_019582 commonName VAR_019582
VAR_019582 disease not phenotype-associated
VAR_019583 commonName VAR_019583
VAR_019583 disease not phenotype-associated
VAR_019584 commonName VAR_019584
VAR_019584 disease not phenotype-associated
VAR_019585 commonName VAR_019585
VAR_019585 disease not phenotype-associated
VAR_019586 commonName VAR_019586
VAR_019586 disease not phenotype-associated
VAR_019587 commonName VAR_019587
VAR_019587 disease not phenotype-associated
VAR_019588 commonName VAR_019588
VAR_019588 disease not phenotype-associated
VAR_019589 commonName VAR_019589
VAR_019589 disease not phenotype-associated
VAR_019590 commonName VAR_019590
VAR_019590 disease not phenotype-associated
VAR_019592 commonName VAR_019592
VAR_019592 disease not phenotype-associated
VAR_019596 commonName VAR_019596
VAR_019596 disease phenotype-associated
VAR_019596 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_019596 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_019597 commonName VAR_019597
VAR_019597 disease not phenotype-associated
VAR_019598 commonName VAR_019598
VAR_019598 disease phenotype-associated
VAR_019598 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277]
VAR_019599 commonName VAR_019599
VAR_019599 disease phenotype-associated
VAR_019599 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277]
VAR_019600 commonName VAR_019600
VAR_019600 disease phenotype-associated
VAR_019600 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
VAR_019600 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277]
VAR_019603 commonName VAR_019603
VAR_019603 disease not phenotype-associated
VAR_019604 commonName VAR_019604
VAR_019604 disease not phenotype-associated
VAR_019605 commonName VAR_019605
VAR_019605 disease not phenotype-associated
VAR_019606 commonName VAR_019606
VAR_019606 disease not phenotype-associated
VAR_019607 commonName VAR_019607
VAR_019607 disease not phenotype-associated
VAR_019608 commonName VAR_019608
VAR_019608 disease phenotype-associated
VAR_019608 phenoCommon Kartagener syndrome (KTGS) [MIM:244400]
VAR_019609 commonName VAR_019609
VAR_019609 disease not phenotype-associated
VAR_019610 commonName VAR_019610
VAR_019610 disease not phenotype-associated
VAR_019611 commonName VAR_019611
VAR_019611 disease not phenotype-associated
VAR_019612 commonName VAR_019612
VAR_019612 disease not phenotype-associated
VAR_019613 commonName VAR_019613
VAR_019613 disease not phenotype-associated
VAR_019614 commonName VAR_019614
VAR_019614 disease not phenotype-associated
VAR_019615 commonName VAR_019615
VAR_019615 disease not phenotype-associated
VAR_019616 commonName VAR_019616
VAR_019616 disease not phenotype-associated
VAR_019617 commonName VAR_019617
VAR_019617 disease phenotype-associated
VAR_019617 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019618 commonName VAR_019618
VAR_019618 disease phenotype-associated
VAR_019618 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019619 commonName VAR_019619
VAR_019619 disease phenotype-associated
VAR_019619 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019620 commonName VAR_019620
VAR_019620 disease phenotype-associated
VAR_019620 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019621 commonName VAR_019621
VAR_019621 disease phenotype-associated
VAR_019621 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019622 commonName VAR_019622
VAR_019622 disease phenotype-associated
VAR_019622 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019623 commonName VAR_019623
VAR_019623 disease phenotype-associated
VAR_019623 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019624 commonName VAR_019624
VAR_019624 disease phenotype-associated
VAR_019624 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019625 commonName VAR_019625
VAR_019625 disease phenotype-associated
VAR_019625 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019626 commonName VAR_019626
VAR_019626 disease phenotype-associated
VAR_019626 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019627 commonName VAR_019627
VAR_019627 disease phenotype-associated
VAR_019627 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019628 commonName VAR_019628
VAR_019628 disease phenotype-associated
VAR_019628 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390]
VAR_019630 commonName VAR_019630
VAR_019630 disease not phenotype-associated
VAR_019632 commonName VAR_019632
VAR_019632 disease not phenotype-associated
VAR_019633 commonName VAR_019633
VAR_019633 disease not phenotype-associated
VAR_019634 commonName VAR_019634
VAR_019634 disease not phenotype-associated
VAR_019635 commonName VAR_019635
VAR_019635 disease phenotype-associated
VAR_019635 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019636 commonName VAR_019636
VAR_019636 disease phenotype-associated
VAR_019636 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019637 commonName VAR_019637
VAR_019637 disease phenotype-associated
VAR_019637 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019638 commonName VAR_019638
VAR_019638 disease phenotype-associated
VAR_019638 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019639 commonName VAR_019639
VAR_019639 disease phenotype-associated
VAR_019639 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019640 commonName VAR_019640
VAR_019640 disease phenotype-associated
VAR_019640 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019641 commonName VAR_019641
VAR_019641 disease phenotype-associated
VAR_019641 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_019646 commonName VAR_019646
VAR_019646 disease not phenotype-associated
VAR_019647 commonName VAR_019647
VAR_019648 commonName VAR_019648
VAR_019648 disease not phenotype-associated
VAR_019649 commonName VAR_019649
VAR_019649 disease not phenotype-associated
VAR_019650 commonName VAR_019650
VAR_019650 disease not phenotype-associated
VAR_019651 commonName VAR_019651
VAR_019651 disease not phenotype-associated
VAR_019652 commonName VAR_019652
VAR_019652 disease not phenotype-associated
VAR_019653 commonName VAR_019653
VAR_019653 disease not phenotype-associated
VAR_019654 commonName VAR_019654
VAR_019654 disease not phenotype-associated
VAR_019655 commonName VAR_019655
VAR_019655 disease not phenotype-associated
VAR_019656 commonName VAR_019656
VAR_019656 disease not phenotype-associated
VAR_019658 commonName VAR_019658
VAR_019658 disease not phenotype-associated
VAR_019659 commonName VAR_019659
VAR_019659 disease not phenotype-associated
VAR_019669 commonName VAR_019669
VAR_019669 disease not phenotype-associated
VAR_019670 commonName VAR_019670
VAR_019670 disease not phenotype-associated
VAR_019671 commonName VAR_019671
VAR_019671 disease not phenotype-associated
VAR_019672 commonName VAR_019672
VAR_019672 disease not phenotype-associated
VAR_019673 commonName VAR_019673
VAR_019673 disease not phenotype-associated
VAR_019674 commonName VAR_019674
VAR_019674 disease not phenotype-associated
VAR_019676 commonName VAR_019676
VAR_019676 disease not phenotype-associated
VAR_019677 commonName VAR_019677
VAR_019677 disease not phenotype-associated
VAR_019678 commonName VAR_019678
VAR_019678 disease not phenotype-associated
VAR_019679 commonName VAR_019679
VAR_019679 disease not phenotype-associated
VAR_019680 commonName VAR_019680
VAR_019680 disease not phenotype-associated
VAR_019681 commonName VAR_019681
VAR_019681 disease not phenotype-associated
VAR_019682 commonName VAR_019682
VAR_019682 disease not phenotype-associated
VAR_019683 commonName VAR_019683
VAR_019683 disease not phenotype-associated
VAR_019684 commonName VAR_019684
VAR_019684 disease not phenotype-associated
VAR_019685 commonName VAR_019685
VAR_019685 disease not phenotype-associated
VAR_019686 commonName VAR_019686
VAR_019686 disease not phenotype-associated
VAR_019687 commonName VAR_019687
VAR_019687 disease not phenotype-associated
VAR_019688 commonName VAR_019688
VAR_019688 disease not phenotype-associated
VAR_019689 commonName VAR_019689
VAR_019689 disease not phenotype-associated
VAR_019690 commonName VAR_019690
VAR_019690 disease not phenotype-associated
VAR_019695 commonName VAR_019695
VAR_019695 disease not phenotype-associated
VAR_019697 commonName VAR_019697
VAR_019697 disease not phenotype-associated
VAR_019698 commonName VAR_019698
VAR_019698 disease not phenotype-associated
VAR_019699 commonName VAR_019699
VAR_019699 disease phenotype-associated
VAR_019699 phenoCommon Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_019700 commonName VAR_019700
VAR_019700 disease not phenotype-associated
VAR_019704 commonName VAR_019704
VAR_019704 disease not phenotype-associated
VAR_019706 commonName VAR_019706
VAR_019706 disease not phenotype-associated
VAR_019707 comment A lymphoid cancer cell line
VAR_019707 commonName VAR_019707
VAR_019708 comment A prostate cancer cell line
VAR_019708 commonName VAR_019708
VAR_019709 commonName VAR_019709
VAR_019709 disease not phenotype-associated
VAR_019710 comment Lung cancer cell line
VAR_019710 commonName VAR_019710
VAR_019711 comment A prostate cancer cell line
VAR_019711 commonName VAR_019711
VAR_019721 commonName VAR_019721
VAR_019721 disease not phenotype-associated
VAR_019722 commonName VAR_019722
VAR_019722 disease not phenotype-associated
VAR_019724 commonName VAR_019724
VAR_019724 disease phenotype-associated
VAR_019724 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_019725 commonName VAR_019725
VAR_019725 disease phenotype-associated
VAR_019725 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_019726 commonName VAR_019726
VAR_019726 disease phenotype-associated
VAR_019726 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_019727 commonName VAR_019727
VAR_019727 disease phenotype-associated
VAR_019727 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200]
VAR_019728 commonName VAR_019728
VAR_019728 disease not phenotype-associated
VAR_019729 commonName VAR_019729
VAR_019729 disease not phenotype-associated
VAR_019730 commonName VAR_019730
VAR_019730 disease not phenotype-associated
VAR_019731 commonName VAR_019731
VAR_019731 disease not phenotype-associated
VAR_019732 commonName VAR_019732
VAR_019732 disease not phenotype-associated
VAR_019733 commonName VAR_019733
VAR_019733 disease phenotype-associated
VAR_019733 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019734 commonName VAR_019734
VAR_019734 disease phenotype-associated
VAR_019734 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019735 commonName VAR_019735
VAR_019735 disease phenotype-associated
VAR_019735 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019736 commonName VAR_019736
VAR_019736 disease phenotype-associated
VAR_019736 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019737 commonName VAR_019737
VAR_019737 disease phenotype-associated
VAR_019737 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019738 commonName VAR_019738
VAR_019738 disease phenotype-associated
VAR_019738 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019738 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019739 commonName VAR_019739
VAR_019739 disease phenotype-associated
VAR_019739 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019740 commonName VAR_019740
VAR_019740 disease not phenotype-associated
VAR_019741 commonName VAR_019741
VAR_019741 disease phenotype-associated
VAR_019741 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019741 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019742 commonName VAR_019742
VAR_019742 disease not phenotype-associated
VAR_019743 commonName VAR_019743
VAR_019743 disease phenotype-associated
VAR_019743 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019744 commonName VAR_019744
VAR_019744 disease phenotype-associated
VAR_019744 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019745 commonName VAR_019745
VAR_019745 disease phenotype-associated
VAR_019745 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019746 commonName VAR_019746
VAR_019746 disease phenotype-associated
VAR_019746 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019747 commonName VAR_019747
VAR_019747 disease phenotype-associated
VAR_019747 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019748 commonName VAR_019748
VAR_019748 disease phenotype-associated
VAR_019748 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019749 commonName VAR_019749
VAR_019749 disease phenotype-associated
VAR_019749 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019750 commonName VAR_019750
VAR_019750 disease phenotype-associated
VAR_019750 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019750 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019751 commonName VAR_019751
VAR_019751 disease not phenotype-associated
VAR_019752 commonName VAR_019752
VAR_019752 disease phenotype-associated
VAR_019752 phenoCommon Parkinson disease (PARK) [MIM:168600]
VAR_019752 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116]
VAR_019768 commonName VAR_019768
VAR_019768 disease not phenotype-associated
VAR_019769 commonName VAR_019769
VAR_019769 disease not phenotype-associated
VAR_019770 commonName VAR_019770
VAR_019770 disease not phenotype-associated
VAR_019771 commonName VAR_019771
VAR_019771 disease not phenotype-associated
VAR_019772 commonName VAR_019772
VAR_019772 disease not phenotype-associated
VAR_019773 commonName VAR_019773
VAR_019773 disease not phenotype-associated
VAR_019774 commonName VAR_019774
VAR_019774 disease not phenotype-associated
VAR_019775 commonName VAR_019775
VAR_019775 disease not phenotype-associated
VAR_019776 commonName VAR_019776
VAR_019776 disease phenotype-associated
VAR_019776 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]
VAR_019777 commonName VAR_019777
VAR_019777 disease not phenotype-associated
VAR_019783 commonName VAR_019783
VAR_019783 disease phenotype-associated
VAR_019783 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522]
VAR_019784 commonName VAR_019784
VAR_019784 disease phenotype-associated
VAR_019784 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522]
VAR_019785 commonName VAR_019785
VAR_019785 disease phenotype-associated
VAR_019785 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522]
VAR_019786 commonName VAR_019786
VAR_019786 disease phenotype-associated
VAR_019786 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522]
VAR_019787 commonName VAR_019787
VAR_019787 disease not phenotype-associated
VAR_019788 commonName VAR_019788
VAR_019788 disease not phenotype-associated
VAR_019789 commonName VAR_019789
VAR_019789 disease not phenotype-associated
VAR_019790 commonName VAR_019790
VAR_019790 disease not phenotype-associated
VAR_019791 commonName VAR_019791
VAR_019791 disease not phenotype-associated
VAR_019794 commonName VAR_019794
VAR_019794 disease not phenotype-associated
VAR_019795 commonName VAR_019795
VAR_019795 disease not phenotype-associated
VAR_019796 commonName VAR_019796
VAR_019796 disease not phenotype-associated
VAR_019797 commonName VAR_019797
VAR_019797 disease not phenotype-associated
VAR_019798 commonName VAR_019798
VAR_019798 disease not phenotype-associated
VAR_019799 commonName VAR_019799
VAR_019799 disease not phenotype-associated
VAR_019800 commonName VAR_019800
VAR_019800 disease not phenotype-associated
VAR_019801 commonName VAR_019801
VAR_019801 disease not phenotype-associated
VAR_019802 commonName VAR_019802
VAR_019802 disease not phenotype-associated
VAR_019803 commonName VAR_019803
VAR_019803 disease not phenotype-associated
VAR_019804 commonName VAR_019804
VAR_019804 disease not phenotype-associated
VAR_019806 commonName VAR_019806
VAR_019806 disease not phenotype-associated
VAR_019807 commonName VAR_019807
VAR_019807 disease not phenotype-associated
VAR_019809 commonName VAR_019809
VAR_019809 disease not phenotype-associated
VAR_019810 commonName VAR_019810
VAR_019810 disease phenotype-associated
VAR_019810 phenoCommon Carney complex variant (CACOV) [MIM:608837]
VAR_019810 phenoCommon Distal arthrogryposis type (DA7) [MIM:158300]
VAR_019811 commonName VAR_019811
VAR_019811 disease phenotype-associated
VAR_019811 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B6 (MDDGB6) [MIM:608840]
VAR_019812 commonName VAR_019812
VAR_019812 disease not phenotype-associated
VAR_019813 commonName VAR_019813
VAR_019813 disease not phenotype-associated
VAR_019814 commonName VAR_019814
VAR_019814 disease phenotype-associated
VAR_019814 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019815 commonName VAR_019815
VAR_019815 disease phenotype-associated
VAR_019815 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019816 commonName VAR_019816
VAR_019816 disease phenotype-associated
VAR_019816 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019817 commonName VAR_019817
VAR_019817 disease phenotype-associated
VAR_019817 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019818 commonName VAR_019818
VAR_019818 disease phenotype-associated
VAR_019818 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019819 commonName VAR_019819
VAR_019819 disease phenotype-associated
VAR_019819 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019820 commonName VAR_019820
VAR_019820 disease phenotype-associated
VAR_019820 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
VAR_019821 commonName VAR_019821
VAR_019821 disease not phenotype-associated
VAR_019822 commonName VAR_019822
VAR_019822 disease not phenotype-associated
VAR_019823 commonName VAR_019823
VAR_019823 disease not phenotype-associated
VAR_019824 commonName VAR_019824
VAR_019824 disease not phenotype-associated
VAR_019836 commonName VAR_019836
VAR_019836 disease not phenotype-associated
VAR_019838 commonName VAR_019838
VAR_019838 disease not phenotype-associated
VAR_019839 commonName VAR_019839
VAR_019839 disease not phenotype-associated
VAR_019840 commonName VAR_019840
VAR_019840 disease phenotype-associated
VAR_019840 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
VAR_019841 commonName VAR_019841
VAR_019841 disease phenotype-associated
VAR_019841 phenoCommon Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]
VAR_019842 commonName VAR_019842
VAR_019842 disease phenotype-associated
VAR_019842 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]
VAR_019843 commonName VAR_019843
VAR_019843 disease phenotype-associated
VAR_019843 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]
VAR_019845 commonName VAR_019845
VAR_019845 disease phenotype-associated
VAR_019845 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019846 commonName VAR_019846
VAR_019846 disease phenotype-associated
VAR_019846 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019847 commonName VAR_019847
VAR_019847 disease phenotype-associated
VAR_019847 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019848 commonName VAR_019848
VAR_019848 disease phenotype-associated
VAR_019848 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019849 commonName VAR_019849
VAR_019849 disease phenotype-associated
VAR_019849 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019850 commonName VAR_019850
VAR_019850 disease phenotype-associated
VAR_019850 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019851 commonName VAR_019851
VAR_019851 disease phenotype-associated
VAR_019851 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019852 commonName VAR_019852
VAR_019852 disease phenotype-associated
VAR_019852 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019853 commonName VAR_019853
VAR_019853 disease phenotype-associated
VAR_019853 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019854 commonName VAR_019854
VAR_019854 disease phenotype-associated
VAR_019854 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019855 commonName VAR_019855
VAR_019855 disease phenotype-associated
VAR_019855 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019856 commonName VAR_019856
VAR_019856 disease phenotype-associated
VAR_019856 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019857 commonName VAR_019857
VAR_019857 disease phenotype-associated
VAR_019857 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019858 commonName VAR_019858
VAR_019858 disease phenotype-associated
VAR_019858 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019859 commonName VAR_019859
VAR_019859 disease phenotype-associated
VAR_019859 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019860 commonName VAR_019860
VAR_019860 disease phenotype-associated
VAR_019860 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019861 commonName VAR_019861
VAR_019861 disease phenotype-associated
VAR_019861 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019862 commonName VAR_019862
VAR_019862 disease phenotype-associated
VAR_019862 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019863 commonName VAR_019863
VAR_019863 disease phenotype-associated
VAR_019863 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019865 commonName VAR_019865
VAR_019865 disease phenotype-associated
VAR_019865 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019866 commonName VAR_019866
VAR_019866 disease phenotype-associated
VAR_019866 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019867 commonName VAR_019867
VAR_019867 disease phenotype-associated
VAR_019867 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019868 commonName VAR_019868
VAR_019868 disease phenotype-associated
VAR_019868 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019869 commonName VAR_019869
VAR_019869 disease phenotype-associated
VAR_019869 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019870 commonName VAR_019870
VAR_019870 disease not phenotype-associated
VAR_019871 commonName VAR_019871
VAR_019871 disease phenotype-associated
VAR_019871 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_019872 commonName VAR_019872
VAR_019872 disease phenotype-associated
VAR_019872 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_019873 commonName VAR_019873
VAR_019873 disease phenotype-associated
VAR_019873 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_019874 commonName VAR_019874
VAR_019874 disease phenotype-associated
VAR_019874 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_019876 commonName VAR_019876
VAR_019876 disease phenotype-associated
VAR_019876 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_019881 commonName VAR_019881
VAR_019881 disease not phenotype-associated
VAR_019882 commonName VAR_019882
VAR_019882 disease phenotype-associated
VAR_019882 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_019883 commonName VAR_019883
VAR_019883 disease phenotype-associated
VAR_019883 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_019884 commonName VAR_019884
VAR_019884 disease phenotype-associated
VAR_019884 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_019885 commonName VAR_019885
VAR_019885 disease phenotype-associated
VAR_019885 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_019886 commonName VAR_019886
VAR_019886 disease phenotype-associated
VAR_019886 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_019887 commonName VAR_019887
VAR_019887 disease not phenotype-associated
VAR_019888 commonName VAR_019888
VAR_019888 disease phenotype-associated
VAR_019888 phenoCommon Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]
VAR_019902 commonName VAR_019902
VAR_019902 disease not phenotype-associated
VAR_019903 commonName VAR_019903
VAR_019903 disease not phenotype-associated
VAR_019904 commonName VAR_019904
VAR_019904 disease not phenotype-associated
VAR_019905 commonName VAR_019905
VAR_019905 disease not phenotype-associated
VAR_019906 commonName VAR_019906
VAR_019906 disease not phenotype-associated
VAR_019907 commonName VAR_019907
VAR_019907 disease not phenotype-associated
VAR_019908 commonName VAR_019908
VAR_019908 disease not phenotype-associated
VAR_019909 commonName VAR_019909
VAR_019909 disease not phenotype-associated
VAR_019910 commonName VAR_019910
VAR_019910 disease not phenotype-associated
VAR_019913 commonName VAR_019913
VAR_019913 disease not phenotype-associated
VAR_019914 commonName VAR_019914
VAR_019914 disease not phenotype-associated
VAR_019915 commonName VAR_019915
VAR_019915 disease not phenotype-associated
VAR_019920 commonName VAR_019920
VAR_019920 disease not phenotype-associated
VAR_019921 commonName VAR_019921
VAR_019921 disease not phenotype-associated
VAR_019922 commonName VAR_019922
VAR_019922 disease not phenotype-associated
VAR_019923 commonName VAR_019923
VAR_019923 disease not phenotype-associated
VAR_019924 commonName VAR_019924
VAR_019924 disease not phenotype-associated
VAR_019925 commonName VAR_019925
VAR_019925 disease not phenotype-associated
VAR_019926 commonName VAR_019926
VAR_019926 disease not phenotype-associated
VAR_019928 commonName VAR_019928
VAR_019928 disease not phenotype-associated
VAR_019929 commonName VAR_019929
VAR_019929 disease not phenotype-associated
VAR_019931 commonName VAR_019931
VAR_019931 disease not phenotype-associated
VAR_019932 commonName VAR_019932
VAR_019932 disease not phenotype-associated
VAR_019933 commonName VAR_019933
VAR_019933 disease not phenotype-associated
VAR_019934 commonName VAR_019934
VAR_019934 disease phenotype-associated
VAR_019934 phenoCommon Alternating hemiplegia of childhood (AHC) [MIM:104290]
VAR_019935 commonName VAR_019935
VAR_019935 disease phenotype-associated
VAR_019935 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
VAR_019936 commonName VAR_019936
VAR_019936 disease phenotype-associated
VAR_019936 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
VAR_019937 commonName VAR_019937
VAR_019937 disease phenotype-associated
VAR_019937 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
VAR_019938 commonName VAR_019938
VAR_019938 disease phenotype-associated
VAR_019938 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
VAR_019939 commonName VAR_019939
VAR_019939 disease not phenotype-associated
VAR_019940 commonName VAR_019940
VAR_019940 disease not phenotype-associated
VAR_019941 commonName VAR_019941
VAR_019941 disease phenotype-associated
VAR_019941 phenoCommon Mental retardation X-linked type 45 (MRX45) [MIM:300498]
VAR_019942 commonName VAR_019942
VAR_019942 disease not phenotype-associated
VAR_019943 commonName VAR_019943
VAR_019943 disease not phenotype-associated
VAR_019944 commonName VAR_019944
VAR_019944 disease not phenotype-associated
VAR_019951 commonName VAR_019951
VAR_019951 disease not phenotype-associated
VAR_019952 commonName VAR_019952
VAR_019952 disease not phenotype-associated
VAR_019953 commonName VAR_019953
VAR_019953 disease not phenotype-associated
VAR_019954 commonName VAR_019954
VAR_019954 disease not phenotype-associated
VAR_019955 commonName VAR_019955
VAR_019955 disease not phenotype-associated
VAR_019956 commonName VAR_019956
VAR_019956 disease not phenotype-associated
VAR_019957 commonName VAR_019957
VAR_019957 disease not phenotype-associated
VAR_019958 commonName VAR_019958
VAR_019958 disease not phenotype-associated
VAR_019959 commonName VAR_019959
VAR_019959 disease not phenotype-associated
VAR_019960 commonName VAR_019960
VAR_019960 disease not phenotype-associated
VAR_019961 commonName VAR_019961
VAR_019961 disease not phenotype-associated
VAR_019963 commonName VAR_019963
VAR_019963 disease phenotype-associated
VAR_019963 phenoCommon Hypomagnesemia type 1 (HOMG1) [MIM:602014]
VAR_019964 commonName VAR_019964
VAR_019964 disease not phenotype-associated
VAR_019965 commonName VAR_019965
VAR_019965 disease not phenotype-associated
VAR_019966 commonName VAR_019966
VAR_019966 disease not phenotype-associated
VAR_019967 commonName VAR_019967
VAR_019967 disease not phenotype-associated
VAR_019968 commonName VAR_019968
VAR_019968 disease not phenotype-associated
VAR_019969 commonName VAR_019969
VAR_019969 disease not phenotype-associated
VAR_019970 commonName VAR_019970
VAR_019970 disease not phenotype-associated
VAR_019971 commonName VAR_019971
VAR_019971 disease not phenotype-associated
VAR_019972 commonName VAR_019972
VAR_019972 disease not phenotype-associated
VAR_019973 commonName VAR_019973
VAR_019973 disease not phenotype-associated
VAR_019974 commonName VAR_019974
VAR_019974 disease not phenotype-associated
VAR_019975 commonName VAR_019975
VAR_019975 disease not phenotype-associated
VAR_019976 commonName VAR_019976
VAR_019976 disease not phenotype-associated
VAR_019977 commonName VAR_019977
VAR_019977 disease not phenotype-associated
VAR_019979 commonName VAR_019979
VAR_019979 disease not phenotype-associated
VAR_019980 commonName VAR_019980
VAR_019980 disease not phenotype-associated
VAR_019981 commonName VAR_019981
VAR_019981 disease not phenotype-associated
VAR_019982 commonName VAR_019982
VAR_019982 disease not phenotype-associated
VAR_019983 commonName VAR_019983
VAR_019983 disease not phenotype-associated
VAR_019985 commonName VAR_019985
VAR_019985 disease not phenotype-associated
VAR_019986 commonName VAR_019986
VAR_019986 disease not phenotype-associated
VAR_019987 commonName VAR_019987
VAR_019987 disease not phenotype-associated
VAR_019990 commonName VAR_019990
VAR_019990 disease not phenotype-associated
VAR_019991 commonName VAR_019991
VAR_019991 disease not phenotype-associated
VAR_019992 commonName VAR_019992
VAR_019992 disease not phenotype-associated
VAR_019993 commonName VAR_019993
VAR_019993 disease not phenotype-associated
VAR_019994 commonName VAR_019994
VAR_019994 disease not phenotype-associated
VAR_019995 commonName VAR_019995
VAR_019995 disease not phenotype-associated
VAR_019996 commonName VAR_019996
VAR_019996 disease not phenotype-associated
VAR_019997 commonName VAR_019997
VAR_019997 disease not phenotype-associated
VAR_019998 commonName VAR_019998
VAR_019998 disease not phenotype-associated
VAR_019999 commonName VAR_019999
VAR_019999 disease not phenotype-associated
VAR_020001 commonName VAR_020001
VAR_020001 disease not phenotype-associated
VAR_020002 commonName VAR_020002
VAR_020002 disease not phenotype-associated
VAR_020003 commonName VAR_020003
VAR_020003 disease not phenotype-associated
VAR_020004 commonName VAR_020004
VAR_020004 disease not phenotype-associated
VAR_020005 commonName VAR_020005
VAR_020005 disease not phenotype-associated
VAR_020006 commonName VAR_020006
VAR_020006 disease not phenotype-associated
VAR_020007 commonName VAR_020007
VAR_020007 disease not phenotype-associated
VAR_020008 commonName VAR_020008
VAR_020008 disease not phenotype-associated
VAR_020009 commonName VAR_020009
VAR_020009 disease not phenotype-associated
VAR_020010 commonName VAR_020010
VAR_020010 disease not phenotype-associated
VAR_020011 commonName VAR_020011
VAR_020011 disease not phenotype-associated
VAR_020012 commonName VAR_020012
VAR_020012 disease not phenotype-associated
VAR_020013 commonName VAR_020013
VAR_020013 disease not phenotype-associated
VAR_020015 commonName VAR_020015
VAR_020015 disease not phenotype-associated
VAR_020016 commonName VAR_020016
VAR_020016 disease not phenotype-associated
VAR_020017 commonName VAR_020017
VAR_020017 disease not phenotype-associated
VAR_020018 commonName VAR_020018
VAR_020018 disease not phenotype-associated
VAR_020019 commonName VAR_020019
VAR_020019 disease not phenotype-associated
VAR_020020 commonName VAR_020020
VAR_020020 disease not phenotype-associated
VAR_020021 commonName VAR_020021
VAR_020021 disease not phenotype-associated
VAR_020022 commonName VAR_020022
VAR_020022 disease not phenotype-associated
VAR_020023 commonName VAR_020023
VAR_020023 disease not phenotype-associated
VAR_020024 commonName VAR_020024
VAR_020024 disease not phenotype-associated
VAR_020025 commonName VAR_020025
VAR_020025 disease not phenotype-associated
VAR_020026 commonName VAR_020026
VAR_020026 disease not phenotype-associated
VAR_020028 commonName VAR_020028
VAR_020028 disease not phenotype-associated
VAR_020029 commonName VAR_020029
VAR_020029 disease not phenotype-associated
VAR_020030 commonName VAR_020030
VAR_020030 disease not phenotype-associated
VAR_020031 commonName VAR_020031
VAR_020031 disease not phenotype-associated
VAR_020032 commonName VAR_020032
VAR_020032 disease not phenotype-associated
VAR_020033 commonName VAR_020033
VAR_020033 disease not phenotype-associated
VAR_020034 commonName VAR_020034
VAR_020034 disease not phenotype-associated
VAR_020035 commonName VAR_020035
VAR_020035 disease not phenotype-associated
VAR_020037 commonName VAR_020037
VAR_020037 disease not phenotype-associated
VAR_020038 commonName VAR_020038
VAR_020038 disease not phenotype-associated
VAR_020039 commonName VAR_020039
VAR_020039 disease not phenotype-associated
VAR_020041 commonName VAR_020041
VAR_020041 disease not phenotype-associated
VAR_020042 commonName VAR_020042
VAR_020042 disease not phenotype-associated
VAR_020044 commonName VAR_020044
VAR_020044 disease not phenotype-associated
VAR_020045 commonName VAR_020045
VAR_020045 disease not phenotype-associated
VAR_020047 commonName VAR_020047
VAR_020047 disease not phenotype-associated
VAR_020048 commonName VAR_020048
VAR_020048 disease not phenotype-associated
VAR_020049 commonName VAR_020049
VAR_020049 disease not phenotype-associated
VAR_020050 commonName VAR_020050
VAR_020050 disease not phenotype-associated
VAR_020051 commonName VAR_020051
VAR_020051 disease not phenotype-associated
VAR_020052 commonName VAR_020052
VAR_020052 disease not phenotype-associated
VAR_020053 commonName VAR_020053
VAR_020053 disease not phenotype-associated
VAR_020054 commonName VAR_020054
VAR_020054 disease not phenotype-associated
VAR_020055 commonName VAR_020055
VAR_020055 disease not phenotype-associated
VAR_020056 commonName VAR_020056
VAR_020056 disease not phenotype-associated
VAR_020057 commonName VAR_020057
VAR_020057 disease not phenotype-associated
VAR_020058 commonName VAR_020058
VAR_020058 disease not phenotype-associated
VAR_020059 commonName VAR_020059
VAR_020059 disease not phenotype-associated
VAR_020061 commonName VAR_020061
VAR_020061 disease not phenotype-associated
VAR_020062 commonName VAR_020062
VAR_020062 disease not phenotype-associated
VAR_020063 commonName VAR_020063
VAR_020063 disease not phenotype-associated
VAR_020064 commonName VAR_020064
VAR_020064 disease not phenotype-associated
VAR_020066 commonName VAR_020066
VAR_020066 disease not phenotype-associated
VAR_020067 commonName VAR_020067
VAR_020067 disease not phenotype-associated
VAR_020068 commonName VAR_020068
VAR_020068 disease not phenotype-associated
VAR_020070 commonName VAR_020070
VAR_020070 disease not phenotype-associated
VAR_020071 commonName VAR_020071
VAR_020071 disease not phenotype-associated
VAR_020072 commonName VAR_020072
VAR_020072 disease not phenotype-associated
VAR_020073 commonName VAR_020073
VAR_020073 disease not phenotype-associated
VAR_020074 commonName VAR_020074
VAR_020074 disease not phenotype-associated
VAR_020075 commonName VAR_020075
VAR_020075 disease not phenotype-associated
VAR_020076 commonName VAR_020076
VAR_020076 disease not phenotype-associated
VAR_020077 commonName VAR_020077
VAR_020077 disease not phenotype-associated
VAR_020078 commonName VAR_020078
VAR_020078 disease not phenotype-associated
VAR_020079 commonName VAR_020079
VAR_020079 disease not phenotype-associated
VAR_020080 commonName VAR_020080
VAR_020080 disease not phenotype-associated
VAR_020081 commonName VAR_020081
VAR_020081 disease not phenotype-associated
VAR_020082 commonName VAR_020082
VAR_020082 disease not phenotype-associated
VAR_020083 commonName VAR_020083
VAR_020083 disease not phenotype-associated
VAR_020087 commonName VAR_020087
VAR_020087 disease not phenotype-associated
VAR_020091 commonName VAR_020091
VAR_020091 disease not phenotype-associated
VAR_020092 commonName VAR_020092
VAR_020092 disease not phenotype-associated
VAR_020093 commonName VAR_020093
VAR_020093 disease not phenotype-associated
VAR_020094 commonName VAR_020094
VAR_020094 disease not phenotype-associated
VAR_020095 commonName VAR_020095
VAR_020095 disease not phenotype-associated
VAR_020097 commonName VAR_020097
VAR_020097 disease not phenotype-associated
VAR_020100 commonName VAR_020100
VAR_020100 disease not phenotype-associated
VAR_020101 commonName VAR_020101
VAR_020101 disease not phenotype-associated
VAR_020102 commonName VAR_020102
VAR_020102 disease not phenotype-associated
VAR_020104 commonName VAR_020104
VAR_020104 disease not phenotype-associated
VAR_020105 commonName VAR_020105
VAR_020105 disease not phenotype-associated
VAR_020106 commonName VAR_020106
VAR_020106 disease not phenotype-associated
VAR_020107 commonName VAR_020107
VAR_020107 disease not phenotype-associated
VAR_020109 commonName VAR_020109
VAR_020109 disease not phenotype-associated
VAR_020110 commonName VAR_020110
VAR_020110 disease not phenotype-associated
VAR_020111 commonName VAR_020111
VAR_020111 disease not phenotype-associated
VAR_020113 commonName VAR_020113
VAR_020113 disease not phenotype-associated
VAR_020114 commonName VAR_020114
VAR_020114 disease not phenotype-associated
VAR_020115 commonName VAR_020115
VAR_020115 disease not phenotype-associated
VAR_020116 commonName VAR_020116
VAR_020116 disease not phenotype-associated
VAR_020117 commonName VAR_020117
VAR_020117 disease not phenotype-associated
VAR_020119 commonName VAR_020119
VAR_020119 disease not phenotype-associated
VAR_020120 commonName VAR_020120
VAR_020120 disease not phenotype-associated
VAR_020121 commonName VAR_020121
VAR_020121 disease not phenotype-associated
VAR_020122 commonName VAR_020122
VAR_020122 disease not phenotype-associated
VAR_020123 commonName VAR_020123
VAR_020123 disease not phenotype-associated
VAR_020124 commonName VAR_020124
VAR_020124 disease not phenotype-associated
VAR_020125 commonName VAR_020125
VAR_020125 disease not phenotype-associated
VAR_020126 commonName VAR_020126
VAR_020126 disease not phenotype-associated
VAR_020128 commonName VAR_020128
VAR_020128 disease not phenotype-associated
VAR_020130 commonName VAR_020130
VAR_020130 disease not phenotype-associated
VAR_020131 commonName VAR_020131
VAR_020131 disease not phenotype-associated
VAR_020132 commonName VAR_020132
VAR_020132 disease not phenotype-associated
VAR_020133 commonName VAR_020133
VAR_020133 disease not phenotype-associated
VAR_020134 commonName VAR_020134
VAR_020134 disease not phenotype-associated
VAR_020141 commonName VAR_020141
VAR_020141 disease not phenotype-associated
VAR_020142 commonName VAR_020142
VAR_020142 disease not phenotype-associated
VAR_020143 commonName VAR_020143
VAR_020143 disease not phenotype-associated
VAR_020144 commonName VAR_020144
VAR_020144 disease not phenotype-associated
VAR_020145 commonName VAR_020145
VAR_020145 disease not phenotype-associated
VAR_020146 commonName VAR_020146
VAR_020146 disease not phenotype-associated
VAR_020148 commonName VAR_020148
VAR_020148 disease not phenotype-associated
VAR_020149 commonName VAR_020149
VAR_020149 disease not phenotype-associated
VAR_020150 commonName VAR_020150
VAR_020150 disease not phenotype-associated
VAR_020152 commonName VAR_020152
VAR_020152 disease not phenotype-associated
VAR_020153 commonName VAR_020153
VAR_020153 disease not phenotype-associated
VAR_020154 commonName VAR_020154
VAR_020154 disease not phenotype-associated
VAR_020155 commonName VAR_020155
VAR_020155 disease not phenotype-associated
VAR_020156 commonName VAR_020156
VAR_020156 disease not phenotype-associated
VAR_020157 commonName VAR_020157
VAR_020157 disease not phenotype-associated
VAR_020158 commonName VAR_020158
VAR_020158 disease not phenotype-associated
VAR_020161 commonName VAR_020161
VAR_020161 disease not phenotype-associated
VAR_020162 commonName VAR_020162
VAR_020162 disease not phenotype-associated
VAR_020163 commonName VAR_020163
VAR_020163 disease not phenotype-associated
VAR_020164 commonName VAR_020164
VAR_020164 disease not phenotype-associated
VAR_020165 commonName VAR_020165
VAR_020165 disease not phenotype-associated
VAR_020166 commonName VAR_020166
VAR_020166 disease not phenotype-associated
VAR_020167 commonName VAR_020167
VAR_020167 disease not phenotype-associated
VAR_020168 commonName VAR_020168
VAR_020168 disease not phenotype-associated
VAR_020169 commonName VAR_020169
VAR_020169 disease not phenotype-associated
VAR_020173 commonName VAR_020173
VAR_020173 disease not phenotype-associated
VAR_020174 commonName VAR_020174
VAR_020174 disease not phenotype-associated
VAR_020175 commonName VAR_020175
VAR_020175 disease not phenotype-associated
VAR_020176 commonName VAR_020176
VAR_020176 disease not phenotype-associated
VAR_020177 commonName VAR_020177
VAR_020177 disease not phenotype-associated
VAR_020179 commonName VAR_020179
VAR_020179 disease not phenotype-associated
VAR_020180 commonName VAR_020180
VAR_020180 disease not phenotype-associated
VAR_020181 commonName VAR_020181
VAR_020181 disease not phenotype-associated
VAR_020182 commonName VAR_020182
VAR_020182 disease not phenotype-associated
VAR_020183 commonName VAR_020183
VAR_020183 disease not phenotype-associated
VAR_020184 commonName VAR_020184
VAR_020184 disease not phenotype-associated
VAR_020185 commonName VAR_020185
VAR_020185 disease not phenotype-associated
VAR_020186 commonName VAR_020186
VAR_020186 disease not phenotype-associated
VAR_020187 commonName VAR_020187
VAR_020187 disease not phenotype-associated
VAR_020188 commonName VAR_020188
VAR_020188 disease not phenotype-associated
VAR_020189 commonName VAR_020189
VAR_020189 disease not phenotype-associated
VAR_020190 commonName VAR_020190
VAR_020190 disease not phenotype-associated
VAR_020191 commonName VAR_020191
VAR_020191 disease not phenotype-associated
VAR_020192 commonName VAR_020192
VAR_020192 disease not phenotype-associated
VAR_020193 commonName VAR_020193
VAR_020193 disease not phenotype-associated
VAR_020194 commonName VAR_020194
VAR_020194 disease not phenotype-associated
VAR_020195 commonName VAR_020195
VAR_020195 disease not phenotype-associated
VAR_020196 commonName VAR_020196
VAR_020196 disease not phenotype-associated
VAR_020198 commonName VAR_020198
VAR_020198 disease not phenotype-associated
VAR_020199 commonName VAR_020199
VAR_020199 disease not phenotype-associated
VAR_020200 commonName VAR_020200
VAR_020200 disease not phenotype-associated
VAR_020201 commonName VAR_020201
VAR_020201 disease not phenotype-associated
VAR_020202 commonName VAR_020202
VAR_020202 disease not phenotype-associated
VAR_020203 commonName VAR_020203
VAR_020203 disease not phenotype-associated
VAR_020204 commonName VAR_020204
VAR_020204 disease not phenotype-associated
VAR_020205 commonName VAR_020205
VAR_020205 disease not phenotype-associated
VAR_020207 commonName VAR_020207
VAR_020207 disease not phenotype-associated
VAR_020209 commonName VAR_020209
VAR_020209 disease not phenotype-associated
VAR_020210 commonName VAR_020210
VAR_020210 disease not phenotype-associated
VAR_020212 commonName VAR_020212
VAR_020212 disease not phenotype-associated
VAR_020213 commonName VAR_020213
VAR_020213 disease not phenotype-associated
VAR_020214 commonName VAR_020214
VAR_020214 disease not phenotype-associated
VAR_020217 commonName VAR_020217
VAR_020217 disease not phenotype-associated
VAR_020218 commonName VAR_020218
VAR_020218 disease not phenotype-associated
VAR_020219 commonName VAR_020219
VAR_020219 disease not phenotype-associated
VAR_020220 commonName VAR_020220
VAR_020220 disease not phenotype-associated
VAR_020221 commonName VAR_020221
VAR_020221 disease not phenotype-associated
VAR_020222 commonName VAR_020222
VAR_020222 disease not phenotype-associated
VAR_020223 commonName VAR_020223
VAR_020223 disease not phenotype-associated
VAR_020225 commonName VAR_020225
VAR_020225 disease not phenotype-associated
VAR_020226 commonName VAR_020226
VAR_020226 disease not phenotype-associated
VAR_020227 commonName VAR_020227
VAR_020227 disease not phenotype-associated
VAR_020228 commonName VAR_020228
VAR_020228 disease not phenotype-associated
VAR_020229 commonName VAR_020229
VAR_020229 disease not phenotype-associated
VAR_020230 commonName VAR_020230
VAR_020230 disease not phenotype-associated
VAR_020231 commonName VAR_020231
VAR_020231 disease not phenotype-associated
VAR_020232 commonName VAR_020232
VAR_020232 disease not phenotype-associated
VAR_020233 commonName VAR_020233
VAR_020233 disease not phenotype-associated
VAR_020234 commonName VAR_020234
VAR_020234 disease not phenotype-associated
VAR_020235 commonName VAR_020235
VAR_020235 disease not phenotype-associated
VAR_020237 commonName VAR_020237
VAR_020237 disease not phenotype-associated
VAR_020239 commonName VAR_020239
VAR_020239 disease not phenotype-associated
VAR_020240 commonName VAR_020240
VAR_020240 disease not phenotype-associated
VAR_020241 commonName VAR_020241
VAR_020241 disease not phenotype-associated
VAR_020242 commonName VAR_020242
VAR_020242 disease not phenotype-associated
VAR_020243 commonName VAR_020243
VAR_020243 disease not phenotype-associated
VAR_020244 commonName VAR_020244
VAR_020244 disease not phenotype-associated
VAR_020245 commonName VAR_020245
VAR_020245 disease not phenotype-associated
VAR_020246 commonName VAR_020246
VAR_020246 disease not phenotype-associated
VAR_020247 commonName VAR_020247
VAR_020247 disease not phenotype-associated
VAR_020248 commonName VAR_020248
VAR_020248 disease not phenotype-associated
VAR_020249 commonName VAR_020249
VAR_020249 disease not phenotype-associated
VAR_020250 commonName VAR_020250
VAR_020250 disease not phenotype-associated
VAR_020251 commonName VAR_020251
VAR_020251 disease not phenotype-associated
VAR_020252 commonName VAR_020252
VAR_020252 disease not phenotype-associated
VAR_020253 commonName VAR_020253
VAR_020253 disease not phenotype-associated
VAR_020254 commonName VAR_020254
VAR_020254 disease not phenotype-associated
VAR_020255 commonName VAR_020255
VAR_020255 disease not phenotype-associated
VAR_020256 commonName VAR_020256
VAR_020256 disease not phenotype-associated
VAR_020257 commonName VAR_020257
VAR_020257 disease not phenotype-associated
VAR_020258 commonName VAR_020258
VAR_020258 disease not phenotype-associated
VAR_020259 commonName VAR_020259
VAR_020259 disease not phenotype-associated
VAR_020260 commonName VAR_020260
VAR_020260 disease not phenotype-associated
VAR_020261 commonName VAR_020261
VAR_020261 disease not phenotype-associated
VAR_020262 commonName VAR_020262
VAR_020262 disease not phenotype-associated
VAR_020263 commonName VAR_020263
VAR_020263 disease not phenotype-associated
VAR_020264 commonName VAR_020264
VAR_020264 disease not phenotype-associated
VAR_020265 commonName VAR_020265
VAR_020265 disease not phenotype-associated
VAR_020266 commonName VAR_020266
VAR_020266 disease not phenotype-associated
VAR_020267 commonName VAR_020267
VAR_020267 disease not phenotype-associated
VAR_020268 commonName VAR_020268
VAR_020268 disease not phenotype-associated
VAR_020269 commonName VAR_020269
VAR_020269 disease not phenotype-associated
VAR_020270 commonName VAR_020270
VAR_020270 disease not phenotype-associated
VAR_020271 commonName VAR_020271
VAR_020271 disease not phenotype-associated
VAR_020272 commonName VAR_020272
VAR_020272 disease not phenotype-associated
VAR_020274 commonName VAR_020274
VAR_020274 disease not phenotype-associated
VAR_020275 commonName VAR_020275
VAR_020275 disease not phenotype-associated
VAR_020276 commonName VAR_020276
VAR_020276 disease not phenotype-associated
VAR_020277 commonName VAR_020277
VAR_020277 disease not phenotype-associated
VAR_020278 commonName VAR_020278
VAR_020278 disease not phenotype-associated
VAR_020279 commonName VAR_020279
VAR_020279 disease not phenotype-associated
VAR_020280 commonName VAR_020280
VAR_020280 disease not phenotype-associated
VAR_020281 commonName VAR_020281
VAR_020281 disease not phenotype-associated
VAR_020282 commonName VAR_020282
VAR_020282 disease not phenotype-associated
VAR_020283 commonName VAR_020283
VAR_020283 disease not phenotype-associated
VAR_020284 commonName VAR_020284
VAR_020284 disease not phenotype-associated
VAR_020286 commonName VAR_020286
VAR_020286 disease not phenotype-associated
VAR_020287 commonName VAR_020287
VAR_020287 disease not phenotype-associated
VAR_020288 commonName VAR_020288
VAR_020288 disease not phenotype-associated
VAR_020289 commonName VAR_020289
VAR_020289 disease not phenotype-associated
VAR_020290 commonName VAR_020290
VAR_020290 disease not phenotype-associated
VAR_020291 commonName VAR_020291
VAR_020291 disease not phenotype-associated
VAR_020292 commonName VAR_020292
VAR_020292 disease not phenotype-associated
VAR_020294 commonName VAR_020294
VAR_020294 disease not phenotype-associated
VAR_020295 commonName VAR_020295
VAR_020295 disease not phenotype-associated
VAR_020296 commonName VAR_020296
VAR_020296 disease not phenotype-associated
VAR_020298 commonName VAR_020298
VAR_020298 disease not phenotype-associated
VAR_020299 commonName VAR_020299
VAR_020299 disease not phenotype-associated
VAR_020300 commonName VAR_020300
VAR_020300 disease not phenotype-associated
VAR_020301 commonName VAR_020301
VAR_020301 disease not phenotype-associated
VAR_020302 commonName VAR_020302
VAR_020302 disease not phenotype-associated
VAR_020303 commonName VAR_020303
VAR_020303 disease not phenotype-associated
VAR_020304 commonName VAR_020304
VAR_020304 disease not phenotype-associated
VAR_020305 commonName VAR_020305
VAR_020305 disease not phenotype-associated
VAR_020306 commonName VAR_020306
VAR_020306 disease not phenotype-associated
VAR_020307 commonName VAR_020307
VAR_020307 disease not phenotype-associated
VAR_020308 commonName VAR_020308
VAR_020308 disease not phenotype-associated
VAR_020309 commonName VAR_020309
VAR_020309 disease not phenotype-associated
VAR_020310 commonName VAR_020310
VAR_020310 disease not phenotype-associated
VAR_020311 commonName VAR_020311
VAR_020311 disease not phenotype-associated
VAR_020312 commonName VAR_020312
VAR_020312 disease not phenotype-associated
VAR_020313 commonName VAR_020313
VAR_020313 disease not phenotype-associated
VAR_020315 commonName VAR_020315
VAR_020315 disease not phenotype-associated
VAR_020316 commonName VAR_020316
VAR_020316 disease not phenotype-associated
VAR_020317 commonName VAR_020317
VAR_020317 disease not phenotype-associated
VAR_020318 commonName VAR_020318
VAR_020318 disease not phenotype-associated
VAR_020319 commonName VAR_020319
VAR_020319 disease not phenotype-associated
VAR_020320 commonName VAR_020320
VAR_020320 disease not phenotype-associated
VAR_020321 commonName VAR_020321
VAR_020321 disease not phenotype-associated
VAR_020322 commonName VAR_020322
VAR_020322 disease not phenotype-associated
VAR_020323 commonName VAR_020323
VAR_020323 disease not phenotype-associated
VAR_020324 commonName VAR_020324
VAR_020324 disease not phenotype-associated
VAR_020325 commonName VAR_020325
VAR_020325 disease not phenotype-associated
VAR_020326 commonName VAR_020326
VAR_020326 disease not phenotype-associated
VAR_020327 commonName VAR_020327
VAR_020327 disease not phenotype-associated
VAR_020329 commonName VAR_020329
VAR_020329 disease not phenotype-associated
VAR_020330 commonName VAR_020330
VAR_020330 disease not phenotype-associated
VAR_020332 commonName VAR_020332
VAR_020332 disease not phenotype-associated
VAR_020333 commonName VAR_020333
VAR_020333 disease not phenotype-associated
VAR_020334 commonName VAR_020334
VAR_020334 disease not phenotype-associated
VAR_020335 commonName VAR_020335
VAR_020335 disease not phenotype-associated
VAR_020336 commonName VAR_020336
VAR_020336 disease not phenotype-associated
VAR_020337 commonName VAR_020337
VAR_020337 disease not phenotype-associated
VAR_020338 commonName VAR_020338
VAR_020338 disease not phenotype-associated
VAR_020339 commonName VAR_020339
VAR_020339 disease not phenotype-associated
VAR_020340 commonName VAR_020340
VAR_020340 disease not phenotype-associated
VAR_020342 commonName VAR_020342
VAR_020342 disease not phenotype-associated
VAR_020343 commonName VAR_020343
VAR_020343 disease not phenotype-associated
VAR_020344 commonName VAR_020344
VAR_020344 disease not phenotype-associated
VAR_020345 commonName VAR_020345
VAR_020345 disease not phenotype-associated
VAR_020346 commonName VAR_020346
VAR_020346 disease not phenotype-associated
VAR_020347 commonName VAR_020347
VAR_020347 disease phenotype-associated
VAR_020347 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_020348 commonName VAR_020348
VAR_020348 disease not phenotype-associated
VAR_020349 commonName VAR_020349
VAR_020349 disease not phenotype-associated
VAR_020350 commonName VAR_020350
VAR_020350 disease not phenotype-associated
VAR_020351 commonName VAR_020351
VAR_020351 disease not phenotype-associated
VAR_020352 commonName VAR_020352
VAR_020352 disease not phenotype-associated
VAR_020353 commonName VAR_020353
VAR_020353 disease not phenotype-associated
VAR_020355 commonName VAR_020355
VAR_020355 disease not phenotype-associated
VAR_020356 commonName VAR_020356
VAR_020356 disease not phenotype-associated
VAR_020357 commonName VAR_020357
VAR_020357 disease not phenotype-associated
VAR_020358 commonName VAR_020358
VAR_020358 disease not phenotype-associated
VAR_020359 commonName VAR_020359
VAR_020359 disease not phenotype-associated
VAR_020360 commonName VAR_020360
VAR_020360 disease not phenotype-associated
VAR_020361 commonName VAR_020361
VAR_020361 disease not phenotype-associated
VAR_020362 commonName VAR_020362
VAR_020362 disease not phenotype-associated
VAR_020363 commonName VAR_020363
VAR_020363 disease not phenotype-associated
VAR_020364 commonName VAR_020364
VAR_020364 disease not phenotype-associated
VAR_020365 commonName VAR_020365
VAR_020365 disease not phenotype-associated
VAR_020366 commonName VAR_020366
VAR_020366 disease not phenotype-associated
VAR_020367 commonName VAR_020367
VAR_020367 disease not phenotype-associated
VAR_020368 commonName VAR_020368
VAR_020368 disease not phenotype-associated
VAR_020369 commonName VAR_020369
VAR_020369 disease not phenotype-associated
VAR_020370 commonName VAR_020370
VAR_020370 disease not phenotype-associated
VAR_020371 commonName VAR_020371
VAR_020371 disease not phenotype-associated
VAR_020372 commonName VAR_020372
VAR_020372 disease not phenotype-associated
VAR_020373 commonName VAR_020373
VAR_020373 disease not phenotype-associated
VAR_020374 commonName VAR_020374
VAR_020374 disease not phenotype-associated
VAR_020375 commonName VAR_020375
VAR_020375 disease not phenotype-associated
VAR_020376 commonName VAR_020376
VAR_020376 disease not phenotype-associated
VAR_020377 commonName VAR_020377
VAR_020377 disease not phenotype-associated
VAR_020378 commonName VAR_020378
VAR_020378 disease not phenotype-associated
VAR_020379 commonName VAR_020379
VAR_020379 disease not phenotype-associated
VAR_020380 commonName VAR_020380
VAR_020380 disease not phenotype-associated
VAR_020381 commonName VAR_020381
VAR_020381 disease not phenotype-associated
VAR_020382 commonName VAR_020382
VAR_020382 disease not phenotype-associated
VAR_020384 commonName VAR_020384
VAR_020384 disease not phenotype-associated
VAR_020387 commonName VAR_020387
VAR_020387 disease not phenotype-associated
VAR_020388 commonName VAR_020388
VAR_020388 disease not phenotype-associated
VAR_020389 commonName VAR_020389
VAR_020389 disease not phenotype-associated
VAR_020390 commonName VAR_020390
VAR_020390 disease not phenotype-associated
VAR_020391 commonName VAR_020391
VAR_020391 disease not phenotype-associated
VAR_020392 commonName VAR_020392
VAR_020392 disease not phenotype-associated
VAR_020393 commonName VAR_020393
VAR_020393 disease not phenotype-associated
VAR_020394 commonName VAR_020394
VAR_020394 disease not phenotype-associated
VAR_020395 commonName VAR_020395
VAR_020395 disease not phenotype-associated
VAR_020396 commonName VAR_020396
VAR_020396 disease not phenotype-associated
VAR_020397 commonName VAR_020397
VAR_020397 disease not phenotype-associated
VAR_020398 commonName VAR_020398
VAR_020398 disease not phenotype-associated
VAR_020399 commonName VAR_020399
VAR_020399 disease not phenotype-associated
VAR_020401 commonName VAR_020401
VAR_020401 disease not phenotype-associated
VAR_020402 commonName VAR_020402
VAR_020402 disease not phenotype-associated
VAR_020403 commonName VAR_020403
VAR_020403 disease not phenotype-associated
VAR_020404 commonName VAR_020404
VAR_020404 disease not phenotype-associated
VAR_020405 commonName VAR_020405
VAR_020405 disease not phenotype-associated
VAR_020406 commonName VAR_020406
VAR_020406 disease not phenotype-associated
VAR_020407 commonName VAR_020407
VAR_020407 disease not phenotype-associated
VAR_020408 commonName VAR_020408
VAR_020408 disease not phenotype-associated
VAR_020409 commonName VAR_020409
VAR_020409 disease not phenotype-associated
VAR_020410 commonName VAR_020410
VAR_020410 disease not phenotype-associated
VAR_020411 commonName VAR_020411
VAR_020411 disease not phenotype-associated
VAR_020412 commonName VAR_020412
VAR_020412 disease not phenotype-associated
VAR_020413 commonName VAR_020413
VAR_020413 disease not phenotype-associated
VAR_020415 commonName VAR_020415
VAR_020415 disease not phenotype-associated
VAR_020416 commonName VAR_020416
VAR_020416 disease not phenotype-associated
VAR_020417 commonName VAR_020417
VAR_020417 disease not phenotype-associated
VAR_020419 commonName VAR_020419
VAR_020419 disease not phenotype-associated
VAR_020420 commonName VAR_020420
VAR_020420 disease not phenotype-associated
VAR_020421 commonName VAR_020421
VAR_020421 disease not phenotype-associated
VAR_020422 commonName VAR_020422
VAR_020422 disease not phenotype-associated
VAR_020423 commonName VAR_020423
VAR_020423 disease not phenotype-associated
VAR_020424 commonName VAR_020424
VAR_020424 disease not phenotype-associated
VAR_020425 commonName VAR_020425
VAR_020425 disease not phenotype-associated
VAR_020426 commonName VAR_020426
VAR_020426 disease not phenotype-associated
VAR_020429 commonName VAR_020429
VAR_020429 disease not phenotype-associated
VAR_020430 commonName VAR_020430
VAR_020430 disease not phenotype-associated
VAR_020431 commonName VAR_020431
VAR_020431 disease not phenotype-associated
VAR_020432 commonName VAR_020432
VAR_020432 disease not phenotype-associated
VAR_020433 commonName VAR_020433
VAR_020433 disease not phenotype-associated
VAR_020434 commonName VAR_020434
VAR_020434 disease not phenotype-associated
VAR_020438 commonName VAR_020438
VAR_020438 disease not phenotype-associated
VAR_020439 commonName VAR_020439
VAR_020439 disease not phenotype-associated
VAR_020440 commonName VAR_020440
VAR_020440 disease not phenotype-associated
VAR_020441 commonName VAR_020441
VAR_020441 disease not phenotype-associated
VAR_020442 commonName VAR_020442
VAR_020442 disease not phenotype-associated
VAR_020443 commonName VAR_020443
VAR_020443 disease not phenotype-associated
VAR_020444 commonName VAR_020444
VAR_020444 disease not phenotype-associated
VAR_020445 commonName VAR_020445
VAR_020445 disease not phenotype-associated
VAR_020446 commonName VAR_020446
VAR_020446 disease not phenotype-associated
VAR_020447 commonName VAR_020447
VAR_020447 disease not phenotype-associated
VAR_020448 commonName VAR_020448
VAR_020448 disease not phenotype-associated
VAR_020449 commonName VAR_020449
VAR_020449 disease not phenotype-associated
VAR_020450 commonName VAR_020450
VAR_020450 disease not phenotype-associated
VAR_020451 commonName VAR_020451
VAR_020451 disease not phenotype-associated
VAR_020452 commonName VAR_020452
VAR_020452 disease phenotype-associated
VAR_020452 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_020453 commonName VAR_020453
VAR_020453 disease not phenotype-associated
VAR_020454 commonName VAR_020454
VAR_020454 disease not phenotype-associated
VAR_020455 commonName VAR_020455
VAR_020455 disease not phenotype-associated
VAR_020456 commonName VAR_020456
VAR_020456 disease not phenotype-associated
VAR_020457 commonName VAR_020457
VAR_020457 disease not phenotype-associated
VAR_020458 commonName VAR_020458
VAR_020458 disease not phenotype-associated
VAR_020459 commonName VAR_020459
VAR_020459 disease not phenotype-associated
VAR_020460 commonName VAR_020460
VAR_020460 disease not phenotype-associated
VAR_020461 commonName VAR_020461
VAR_020461 disease not phenotype-associated
VAR_020462 commonName VAR_020462
VAR_020462 disease not phenotype-associated
VAR_020463 commonName VAR_020463
VAR_020463 disease not phenotype-associated
VAR_020464 commonName VAR_020464
VAR_020464 disease not phenotype-associated
VAR_020465 commonName VAR_020465
VAR_020465 disease not phenotype-associated
VAR_020466 commonName VAR_020466
VAR_020466 disease not phenotype-associated
VAR_020467 commonName VAR_020467
VAR_020467 disease not phenotype-associated
VAR_020468 commonName VAR_020468
VAR_020468 disease not phenotype-associated
VAR_020469 commonName VAR_020469
VAR_020469 disease not phenotype-associated
VAR_020470 commonName VAR_020470
VAR_020470 disease not phenotype-associated
VAR_020471 commonName VAR_020471
VAR_020471 disease not phenotype-associated
VAR_020472 commonName VAR_020472
VAR_020472 disease not phenotype-associated
VAR_020473 commonName VAR_020473
VAR_020473 disease not phenotype-associated
VAR_020474 commonName VAR_020474
VAR_020474 disease not phenotype-associated
VAR_020475 commonName VAR_020475
VAR_020475 disease not phenotype-associated
VAR_020476 commonName VAR_020476
VAR_020476 disease not phenotype-associated
VAR_020477 commonName VAR_020477
VAR_020477 disease not phenotype-associated
VAR_020478 commonName VAR_020478
VAR_020478 disease not phenotype-associated
VAR_020479 commonName VAR_020479
VAR_020479 disease not phenotype-associated
VAR_020480 commonName VAR_020480
VAR_020480 disease not phenotype-associated
VAR_020481 commonName VAR_020481
VAR_020481 disease not phenotype-associated
VAR_020482 commonName VAR_020482
VAR_020482 disease not phenotype-associated
VAR_020483 commonName VAR_020483
VAR_020483 disease not phenotype-associated
VAR_020484 commonName VAR_020484
VAR_020484 disease not phenotype-associated
VAR_020485 commonName VAR_020485
VAR_020485 disease not phenotype-associated
VAR_020486 commonName VAR_020486
VAR_020486 disease not phenotype-associated
VAR_020487 commonName VAR_020487
VAR_020487 disease not phenotype-associated
VAR_020488 commonName VAR_020488
VAR_020488 disease not phenotype-associated
VAR_020489 commonName VAR_020489
VAR_020489 disease not phenotype-associated
VAR_020491 commonName VAR_020491
VAR_020491 disease not phenotype-associated
VAR_020492 commonName VAR_020492
VAR_020492 disease phenotype-associated
VAR_020492 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324]
VAR_020493 commonName VAR_020493
VAR_020493 disease phenotype-associated
VAR_020493 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324]
VAR_020494 commonName VAR_020494
VAR_020494 disease not phenotype-associated
VAR_020495 commonName VAR_020495
VAR_020495 disease phenotype-associated
VAR_020495 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324]
VAR_020496 commonName VAR_020496
VAR_020496 disease phenotype-associated
VAR_020496 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324]
VAR_020497 commonName VAR_020497
VAR_020497 disease not phenotype-associated
VAR_020498 commonName VAR_020498
VAR_020498 disease phenotype-associated
VAR_020498 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324]
VAR_020500 commonName VAR_020500
VAR_020500 disease not phenotype-associated
VAR_020501 commonName VAR_020501
VAR_020501 disease not phenotype-associated
VAR_020502 commonName VAR_020502
VAR_020502 disease not phenotype-associated
VAR_020503 commonName VAR_020503
VAR_020503 disease not phenotype-associated
VAR_020504 commonName VAR_020504
VAR_020504 disease not phenotype-associated
VAR_020505 commonName VAR_020505
VAR_020505 disease not phenotype-associated
VAR_020506 commonName VAR_020506
VAR_020506 disease not phenotype-associated
VAR_020507 commonName VAR_020507
VAR_020507 disease not phenotype-associated
VAR_020508 commonName VAR_020508
VAR_020508 disease not phenotype-associated
VAR_020509 commonName VAR_020509
VAR_020509 disease not phenotype-associated
VAR_020510 commonName VAR_020510
VAR_020510 disease not phenotype-associated
VAR_020511 commonName VAR_020511
VAR_020511 disease not phenotype-associated
VAR_020512 commonName VAR_020512
VAR_020512 disease not phenotype-associated
VAR_020513 commonName VAR_020513
VAR_020513 disease not phenotype-associated
VAR_020514 commonName VAR_020514
VAR_020514 disease not phenotype-associated
VAR_020516 commonName VAR_020516
VAR_020516 disease not phenotype-associated
VAR_020518 commonName VAR_020518
VAR_020518 disease not phenotype-associated
VAR_020519 commonName VAR_020519
VAR_020519 disease not phenotype-associated
VAR_020520 commonName VAR_020520
VAR_020520 disease phenotype-associated
VAR_020520 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399]
VAR_020521 commonName VAR_020521
VAR_020521 disease not phenotype-associated
VAR_020522 commonName VAR_020522
VAR_020522 disease not phenotype-associated
VAR_020523 commonName VAR_020523
VAR_020523 disease not phenotype-associated
VAR_020524 commonName VAR_020524
VAR_020524 disease not phenotype-associated
VAR_020525 commonName VAR_020525
VAR_020525 disease phenotype-associated
VAR_020525 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_020526 commonName VAR_020526
VAR_020526 disease phenotype-associated
VAR_020526 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_020527 commonName VAR_020527
VAR_020527 disease phenotype-associated
VAR_020527 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_020530 commonName VAR_020530
VAR_020530 disease not phenotype-associated
VAR_020531 commonName VAR_020531
VAR_020531 disease not phenotype-associated
VAR_020532 commonName VAR_020532
VAR_020532 disease not phenotype-associated
VAR_020533 commonName VAR_020533
VAR_020533 disease not phenotype-associated
VAR_020534 commonName VAR_020534
VAR_020534 disease not phenotype-associated
VAR_020535 commonName VAR_020535
VAR_020536 commonName VAR_020536
VAR_020536 disease not phenotype-associated
VAR_020537 commonName VAR_020537
VAR_020537 disease not phenotype-associated
VAR_020538 commonName VAR_020538
VAR_020538 disease not phenotype-associated
VAR_020539 commonName VAR_020539
VAR_020539 disease not phenotype-associated
VAR_020540 commonName VAR_020540
VAR_020540 disease phenotype-associated
VAR_020540 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020541 commonName VAR_020541
VAR_020541 disease phenotype-associated
VAR_020541 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020542 commonName VAR_020542
VAR_020542 disease phenotype-associated
VAR_020542 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020543 commonName VAR_020543
VAR_020543 disease phenotype-associated
VAR_020543 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020544 commonName VAR_020544
VAR_020544 disease phenotype-associated
VAR_020544 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020545 commonName VAR_020545
VAR_020545 disease phenotype-associated
VAR_020545 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_020546 commonName VAR_020546
VAR_020546 disease phenotype-associated
VAR_020546 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020547 commonName VAR_020547
VAR_020547 disease not phenotype-associated
VAR_020548 commonName VAR_020548
VAR_020548 disease phenotype-associated
VAR_020548 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020549 commonName VAR_020549
VAR_020549 disease phenotype-associated
VAR_020549 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020550 commonName VAR_020550
VAR_020550 disease phenotype-associated
VAR_020550 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020551 commonName VAR_020551
VAR_020551 disease phenotype-associated
VAR_020551 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020553 commonName VAR_020553
VAR_020553 disease phenotype-associated
VAR_020553 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020554 commonName VAR_020554
VAR_020554 disease phenotype-associated
VAR_020554 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020555 commonName VAR_020555
VAR_020555 disease phenotype-associated
VAR_020555 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020556 commonName VAR_020556
VAR_020556 disease phenotype-associated
VAR_020556 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020557 commonName VAR_020557
VAR_020557 disease phenotype-associated
VAR_020557 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020558 commonName VAR_020558
VAR_020558 disease phenotype-associated
VAR_020558 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020559 commonName VAR_020559
VAR_020559 disease phenotype-associated
VAR_020559 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_020560 commonName VAR_020560
VAR_020560 disease not phenotype-associated
VAR_020561 commonName VAR_020561
VAR_020561 disease not phenotype-associated
VAR_020565 commonName VAR_020565
VAR_020565 disease not phenotype-associated
VAR_020566 commonName VAR_020566
VAR_020566 disease not phenotype-associated
VAR_020567 commonName VAR_020567
VAR_020567 disease not phenotype-associated
VAR_020576 commonName VAR_020576
VAR_020576 disease not phenotype-associated
VAR_020577 commonName VAR_020577
VAR_020577 disease not phenotype-associated
VAR_020578 commonName VAR_020578
VAR_020578 disease not phenotype-associated
VAR_020579 commonName VAR_020579
VAR_020579 disease not phenotype-associated
VAR_020580 commonName VAR_020580
VAR_020580 disease not phenotype-associated
VAR_020581 commonName VAR_020581
VAR_020581 disease not phenotype-associated
VAR_020582 commonName VAR_020582
VAR_020582 disease not phenotype-associated
VAR_020583 commonName VAR_020583
VAR_020583 disease not phenotype-associated
VAR_020584 commonName VAR_020584
VAR_020584 disease not phenotype-associated
VAR_020585 commonName VAR_020585
VAR_020585 disease not phenotype-associated
VAR_020586 commonName VAR_020586
VAR_020586 disease not phenotype-associated
VAR_020587 commonName VAR_020587
VAR_020587 disease not phenotype-associated
VAR_020588 commonName VAR_020588
VAR_020588 disease not phenotype-associated
VAR_020590 commonName VAR_020590
VAR_020590 disease not phenotype-associated
VAR_020591 commonName VAR_020591
VAR_020591 disease not phenotype-associated
VAR_020592 commonName VAR_020592
VAR_020592 disease not phenotype-associated
VAR_020593 commonName VAR_020593
VAR_020593 disease not phenotype-associated
VAR_020597 commonName VAR_020597
VAR_020597 disease not phenotype-associated
VAR_020598 commonName VAR_020598
VAR_020598 disease not phenotype-associated
VAR_020599 commonName VAR_020599
VAR_020599 disease not phenotype-associated
VAR_020600 commonName VAR_020600
VAR_020600 disease not phenotype-associated
VAR_020601 commonName VAR_020601
VAR_020601 disease not phenotype-associated
VAR_020602 commonName VAR_020602
VAR_020602 disease not phenotype-associated
VAR_020603 commonName VAR_020603
VAR_020603 disease not phenotype-associated
VAR_020604 commonName VAR_020604
VAR_020604 disease not phenotype-associated
VAR_020605 commonName VAR_020605
VAR_020605 disease not phenotype-associated
VAR_020606 commonName VAR_020606
VAR_020606 disease not phenotype-associated
VAR_020607 commonName VAR_020607
VAR_020607 disease not phenotype-associated
VAR_020608 commonName VAR_020608
VAR_020608 disease not phenotype-associated
VAR_020609 commonName VAR_020609
VAR_020609 disease not phenotype-associated
VAR_020610 commonName VAR_020610
VAR_020610 disease not phenotype-associated
VAR_020611 commonName VAR_020611
VAR_020611 disease not phenotype-associated
VAR_020612 commonName VAR_020612
VAR_020612 disease not phenotype-associated
VAR_020613 commonName VAR_020613
VAR_020613 disease not phenotype-associated
VAR_020614 commonName VAR_020614
VAR_020614 disease not phenotype-associated
VAR_020616 commonName VAR_020616
VAR_020616 disease not phenotype-associated
VAR_020618 commonName VAR_020618
VAR_020618 disease not phenotype-associated
VAR_020619 commonName VAR_020619
VAR_020619 disease not phenotype-associated
VAR_020620 commonName VAR_020620
VAR_020620 disease phenotype-associated
VAR_020620 phenoCommon Glycogen storage disease type 13 (GSD13) [MIM:612932]
VAR_020622 commonName VAR_020622
VAR_020622 disease phenotype-associated
VAR_020622 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020623 commonName VAR_020623
VAR_020623 disease phenotype-associated
VAR_020623 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020624 commonName VAR_020624
VAR_020624 disease phenotype-associated
VAR_020624 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020625 commonName VAR_020625
VAR_020625 disease phenotype-associated
VAR_020625 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020626 commonName VAR_020626
VAR_020626 disease phenotype-associated
VAR_020626 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020627 commonName VAR_020627
VAR_020628 commonName VAR_020628
VAR_020628 disease not phenotype-associated
VAR_020629 commonName VAR_020629
VAR_020629 disease not phenotype-associated
VAR_020630 commonName VAR_020630
VAR_020630 disease phenotype-associated
VAR_020630 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020631 commonName VAR_020631
VAR_020631 disease phenotype-associated
VAR_020631 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020632 commonName VAR_020632
VAR_020632 disease phenotype-associated
VAR_020632 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020633 commonName VAR_020633
VAR_020634 commonName VAR_020634
VAR_020634 disease phenotype-associated
VAR_020634 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020635 commonName VAR_020635
VAR_020636 commonName VAR_020636
VAR_020636 disease phenotype-associated
VAR_020636 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020637 commonName VAR_020637
VAR_020637 disease phenotype-associated
VAR_020637 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020638 commonName VAR_020638
VAR_020638 disease phenotype-associated
VAR_020638 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_020639 commonName VAR_020639
VAR_020639 disease not phenotype-associated
VAR_020640 commonName VAR_020640
VAR_020640 disease not phenotype-associated
VAR_020641 commonName VAR_020641
VAR_020641 disease not phenotype-associated
VAR_020642 commonName VAR_020642
VAR_020642 disease not phenotype-associated
VAR_020643 commonName VAR_020643
VAR_020644 commonName VAR_020644
VAR_020645 commonName VAR_020645
VAR_020646 commonName VAR_020646
VAR_020647 commonName VAR_020647
VAR_020648 commonName VAR_020648
VAR_020649 commonName VAR_020649
VAR_020650 commonName VAR_020650
VAR_020651 commonName VAR_020651
VAR_020651 disease not phenotype-associated
VAR_020652 commonName VAR_020652
VAR_020653 commonName VAR_020653
VAR_020654 commonName VAR_020654
VAR_020654 disease not phenotype-associated
VAR_020655 commonName VAR_020655
VAR_020655 disease not phenotype-associated
VAR_020657 commonName VAR_020657
VAR_020657 disease not phenotype-associated
VAR_020658 commonName VAR_020658
VAR_020658 disease not phenotype-associated
VAR_020659 commonName VAR_020659
VAR_020659 disease not phenotype-associated
VAR_020660 commonName VAR_020660
VAR_020660 disease not phenotype-associated
VAR_020661 commonName VAR_020661
VAR_020661 disease not phenotype-associated
VAR_020662 commonName VAR_020662
VAR_020662 disease not phenotype-associated
VAR_020663 commonName VAR_020663
VAR_020663 disease not phenotype-associated
VAR_020664 commonName VAR_020664
VAR_020664 disease not phenotype-associated
VAR_020665 commonName VAR_020665
VAR_020665 disease not phenotype-associated
VAR_020666 commonName VAR_020666
VAR_020666 disease not phenotype-associated
VAR_020667 commonName VAR_020667
VAR_020667 disease not phenotype-associated
VAR_020668 commonName VAR_020668
VAR_020668 disease not phenotype-associated
VAR_020678 commonName VAR_020678
VAR_020678 disease not phenotype-associated
VAR_020679 commonName VAR_020679
VAR_020679 disease phenotype-associated
VAR_020679 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020679 phenoCommon Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
VAR_020680 commonName VAR_020680
VAR_020680 disease phenotype-associated
VAR_020680 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020680 phenoCommon Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
VAR_020681 commonName VAR_020681
VAR_020682 commonName VAR_020682
VAR_020682 disease not phenotype-associated
VAR_020683 commonName VAR_020683
VAR_020683 disease phenotype-associated
VAR_020683 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020684 commonName VAR_020684
VAR_020685 commonName VAR_020685
VAR_020686 commonName VAR_020686
VAR_020687 commonName VAR_020687
VAR_020688 commonName VAR_020688
VAR_020688 disease not phenotype-associated
VAR_020705 commonName VAR_020705
VAR_020706 commonName VAR_020706
VAR_020707 commonName VAR_020707
VAR_020708 commonName VAR_020708
VAR_020709 commonName VAR_020709
VAR_020710 commonName VAR_020710
VAR_020711 commonName VAR_020711
VAR_020711 disease not phenotype-associated
VAR_020712 commonName VAR_020712
VAR_020713 commonName VAR_020713
VAR_020714 commonName VAR_020714
VAR_020715 commonName VAR_020715
VAR_020715 disease phenotype-associated
VAR_020715 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020716 commonName VAR_020716
VAR_020716 disease not phenotype-associated
VAR_020717 commonName VAR_020717
VAR_020718 commonName VAR_020718
VAR_020719 commonName VAR_020719
VAR_020719 disease phenotype-associated
VAR_020719 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020720 commonName VAR_020720
VAR_020720 disease phenotype-associated
VAR_020720 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020721 commonName VAR_020721
VAR_020721 disease phenotype-associated
VAR_020721 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020722 commonName VAR_020722
VAR_020722 disease phenotype-associated
VAR_020722 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020723 commonName VAR_020723
VAR_020724 commonName VAR_020724
VAR_020725 commonName VAR_020725
VAR_020725 disease phenotype-associated
VAR_020725 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020726 commonName VAR_020726
VAR_020726 disease phenotype-associated
VAR_020726 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020727 commonName VAR_020727
VAR_020727 disease phenotype-associated
VAR_020727 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020728 commonName VAR_020728
VAR_020729 commonName VAR_020729
VAR_020729 disease phenotype-associated
VAR_020729 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020730 commonName VAR_020730
VAR_020731 commonName VAR_020731
VAR_020732 commonName VAR_020732
VAR_020733 commonName VAR_020733
VAR_020734 commonName VAR_020734
VAR_020734 disease not phenotype-associated
VAR_020735 commonName VAR_020735
VAR_020736 commonName VAR_020736
VAR_020736 disease phenotype-associated
VAR_020736 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020737 commonName VAR_020737
VAR_020737 disease phenotype-associated
VAR_020737 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020738 commonName VAR_020738
VAR_020739 commonName VAR_020739
VAR_020740 commonName VAR_020740
VAR_020741 commonName VAR_020741
VAR_020742 commonName VAR_020742
VAR_020742 disease not phenotype-associated
VAR_020743 commonName VAR_020743
VAR_020743 disease phenotype-associated
VAR_020743 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020744 commonName VAR_020744
VAR_020744 disease phenotype-associated
VAR_020744 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020745 commonName VAR_020745
VAR_020745 disease not phenotype-associated
VAR_020746 comment A colorectal cancer
VAR_020746 commonName VAR_020746
VAR_020747 comment Some colorectal cancers
VAR_020747 commonName VAR_020747
VAR_020748 comment A gastric cancer
VAR_020748 commonName VAR_020748
VAR_020749 comment A colorectal cancer
VAR_020749 commonName VAR_020749
VAR_020750 comment A colorectal cancer
VAR_020750 commonName VAR_020750
VAR_020751 comment A colorectal cancer
VAR_020751 commonName VAR_020751
VAR_020752 comment A colorectal cancer
VAR_020752 commonName VAR_020752
VAR_020753 comment A gastric cancer
VAR_020753 commonName VAR_020753
VAR_020754 comment A colorectal cancer
VAR_020754 commonName VAR_020754
VAR_020755 comment A colorectal cancer
VAR_020755 commonName VAR_020755
VAR_020756 comment A colorectal cancer
VAR_020756 commonName VAR_020756
VAR_020757 comment A colorectal cancer
VAR_020757 commonName VAR_020757
VAR_020758 comment A colorectal cancer
VAR_020758 commonName VAR_020758
VAR_020759 comment A colorectal cancer
VAR_020759 commonName VAR_020759
VAR_020760 comment A lung cancer
VAR_020760 commonName VAR_020760
VAR_020761 comment A colorectal cancer
VAR_020761 commonName VAR_020761
VAR_020762 comment A colorectal cancer
VAR_020762 commonName VAR_020762
VAR_020763 comment A colorectal cancer
VAR_020763 commonName VAR_020763
VAR_020764 comment A colorectal cancer
VAR_020764 commonName VAR_020764
VAR_020765 comment A colorectal cancer
VAR_020765 commonName VAR_020765
VAR_020766 comment A colorectal cancer
VAR_020766 commonName VAR_020766
VAR_020767 comment A colorectal cancer
VAR_020767 commonName VAR_020767
VAR_020768 comment A lung cancer
VAR_020768 commonName VAR_020768
VAR_020769 comment A colorectal cancer
VAR_020769 commonName VAR_020769
VAR_020770 comment Some colorectal cancers
VAR_020770 commonName VAR_020770
VAR_020772 commonName VAR_020772
VAR_020772 disease not phenotype-associated
VAR_020773 commonName VAR_020773
VAR_020773 disease not phenotype-associated
VAR_020774 commonName VAR_020774
VAR_020774 disease not phenotype-associated
VAR_020775 commonName VAR_020775
VAR_020776 commonName VAR_020776
VAR_020776 disease not phenotype-associated
VAR_020777 commonName VAR_020777
VAR_020777 disease not phenotype-associated
VAR_020778 commonName VAR_020778
VAR_020778 disease not phenotype-associated
VAR_020779 commonName VAR_020779
VAR_020779 disease not phenotype-associated
VAR_020780 commonName VAR_020780
VAR_020780 disease not phenotype-associated
VAR_020781 commonName VAR_020781
VAR_020781 disease phenotype-associated
VAR_020781 phenoCommon Sitosterolemia (STSL) [MIM:210250]
VAR_020782 commonName VAR_020782
VAR_020782 disease not phenotype-associated
VAR_020783 commonName VAR_020783
VAR_020783 disease not phenotype-associated
VAR_020784 commonName VAR_020784
VAR_020784 disease not phenotype-associated
VAR_020785 commonName VAR_020785
VAR_020785 disease not phenotype-associated
VAR_020787 commonName VAR_020787
VAR_020787 disease not phenotype-associated
VAR_020788 commonName VAR_020788
VAR_020788 disease not phenotype-associated
VAR_020789 commonName VAR_020789
VAR_020789 disease not phenotype-associated
VAR_020790 commonName VAR_020790
VAR_020790 disease not phenotype-associated
VAR_020791 commonName VAR_020791
VAR_020791 disease not phenotype-associated
VAR_020792 commonName VAR_020792
VAR_020792 disease not phenotype-associated
VAR_020797 commonName VAR_020797
VAR_020797 disease phenotype-associated
VAR_020797 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020798 commonName VAR_020798
VAR_020798 disease phenotype-associated
VAR_020798 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020799 commonName VAR_020799
VAR_020799 disease phenotype-associated
VAR_020799 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020800 commonName VAR_020800
VAR_020800 disease phenotype-associated
VAR_020800 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020801 commonName VAR_020801
VAR_020801 disease phenotype-associated
VAR_020801 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020802 commonName VAR_020802
VAR_020802 disease phenotype-associated
VAR_020802 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020803 commonName VAR_020803
VAR_020803 disease phenotype-associated
VAR_020803 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020804 commonName VAR_020804
VAR_020804 disease phenotype-associated
VAR_020804 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020805 commonName VAR_020805
VAR_020805 disease phenotype-associated
VAR_020805 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020806 commonName VAR_020806
VAR_020806 disease phenotype-associated
VAR_020806 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020807 commonName VAR_020807
VAR_020807 disease phenotype-associated
VAR_020807 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020808 commonName VAR_020808
VAR_020808 disease phenotype-associated
VAR_020808 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020809 commonName VAR_020809
VAR_020809 disease phenotype-associated
VAR_020809 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020810 commonName VAR_020810
VAR_020810 disease phenotype-associated
VAR_020810 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020811 commonName VAR_020811
VAR_020811 disease phenotype-associated
VAR_020811 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020812 commonName VAR_020812
VAR_020812 disease phenotype-associated
VAR_020812 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020813 commonName VAR_020813
VAR_020813 disease phenotype-associated
VAR_020813 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020814 commonName VAR_020814
VAR_020814 disease phenotype-associated
VAR_020814 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020815 commonName VAR_020815
VAR_020815 disease phenotype-associated
VAR_020815 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020816 commonName VAR_020816
VAR_020816 disease phenotype-associated
VAR_020816 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020817 commonName VAR_020817
VAR_020817 disease phenotype-associated
VAR_020817 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020819 commonName VAR_020819
VAR_020819 disease not phenotype-associated
VAR_020820 commonName VAR_020820
VAR_020820 disease phenotype-associated
VAR_020820 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020821 commonName VAR_020821
VAR_020821 disease phenotype-associated
VAR_020821 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_020822 commonName VAR_020822
VAR_020822 disease phenotype-associated
VAR_020822 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_020824 commonName VAR_020824
VAR_020824 disease phenotype-associated
VAR_020824 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_020825 commonName VAR_020825
VAR_020825 disease not phenotype-associated
VAR_020826 commonName VAR_020826
VAR_020826 disease phenotype-associated
VAR_020826 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_020827 commonName VAR_020827
VAR_020827 disease phenotype-associated
VAR_020827 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_020828 commonName VAR_020828
VAR_020828 disease phenotype-associated
VAR_020828 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_020829 commonName VAR_020829
VAR_020829 disease phenotype-associated
VAR_020829 phenoCommon Lathosterolosis (LATHST) [MIM:607330]
VAR_020830 commonName VAR_020830
VAR_020830 disease phenotype-associated
VAR_020830 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_020831 commonName VAR_020831
VAR_020831 disease phenotype-associated
VAR_020831 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_020832 commonName VAR_020832
VAR_020832 disease phenotype-associated
VAR_020832 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_020833 commonName VAR_020833
VAR_020833 disease phenotype-associated
VAR_020833 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_020834 commonName VAR_020834
VAR_020834 disease phenotype-associated
VAR_020834 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_020835 commonName VAR_020835
VAR_020835 disease phenotype-associated
VAR_020835 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_020836 commonName VAR_020836
VAR_020836 disease phenotype-associated
VAR_020836 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_020837 commonName VAR_020837
VAR_020837 disease phenotype-associated
VAR_020837 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_020838 commonName VAR_020838
VAR_020838 disease phenotype-associated
VAR_020838 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_020839 commonName VAR_020839
VAR_020839 disease phenotype-associated
VAR_020839 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_020840 commonName VAR_020840
VAR_020840 disease phenotype-associated
VAR_020840 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_020841 commonName VAR_020841
VAR_020841 disease phenotype-associated
VAR_020841 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_020842 commonName VAR_020842
VAR_020842 disease phenotype-associated
VAR_020842 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_020843 commonName VAR_020843
VAR_020843 disease phenotype-associated
VAR_020843 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100]
VAR_020844 commonName VAR_020844
VAR_020844 disease phenotype-associated
VAR_020844 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_020845 commonName VAR_020845
VAR_020845 disease phenotype-associated
VAR_020845 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400]
VAR_020847 commonName VAR_020847
VAR_020847 disease not phenotype-associated
VAR_020854 commonName VAR_020854
VAR_020854 disease phenotype-associated
VAR_020854 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027]
VAR_020855 commonName VAR_020855
VAR_020855 disease phenotype-associated
VAR_020855 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027]
VAR_020856 commonName VAR_020856
VAR_020856 disease phenotype-associated
VAR_020856 phenoCommon Glycogen storage disease type 9D (GSD9D) [MIM:300559]
VAR_020857 commonName VAR_020857
VAR_020857 disease not phenotype-associated
VAR_020858 commonName VAR_020858
VAR_020858 disease phenotype-associated
VAR_020858 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020859 commonName VAR_020859
VAR_020859 disease phenotype-associated
VAR_020859 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020860 commonName VAR_020860
VAR_020860 disease phenotype-associated
VAR_020860 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020861 commonName VAR_020861
VAR_020861 disease phenotype-associated
VAR_020861 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020862 commonName VAR_020862
VAR_020862 disease phenotype-associated
VAR_020862 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020863 commonName VAR_020863
VAR_020863 disease phenotype-associated
VAR_020863 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020864 commonName VAR_020864
VAR_020864 disease phenotype-associated
VAR_020864 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020865 commonName VAR_020865
VAR_020865 disease phenotype-associated
VAR_020865 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712]
VAR_020866 comment Neck cancer
VAR_020866 commonName VAR_020866
VAR_020867 comment Lung carcinoma
VAR_020867 commonName VAR_020867
VAR_020868 comment Cervical cancer
VAR_020868 commonName VAR_020868
VAR_020869 commonName VAR_020869
VAR_020869 disease phenotype-associated
VAR_020869 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]
VAR_020870 commonName VAR_020870
VAR_020870 disease phenotype-associated
VAR_020870 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020871 commonName VAR_020871
VAR_020871 disease phenotype-associated
VAR_020871 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020872 comment Colon cancer
VAR_020872 commonName VAR_020872
VAR_020873 commonName VAR_020873
VAR_020873 disease phenotype-associated
VAR_020873 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]
VAR_020873 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020874 commonName VAR_020874
VAR_020874 disease phenotype-associated
VAR_020874 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020875 commonName VAR_020875
VAR_020875 disease phenotype-associated
VAR_020875 phenoCommon Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]
VAR_020876 commonName VAR_020876
VAR_020876 disease phenotype-associated
VAR_020876 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020877 commonName VAR_020877
VAR_020877 disease phenotype-associated
VAR_020877 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020878 commonName VAR_020878
VAR_020878 disease phenotype-associated
VAR_020878 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_020879 commonName VAR_020879
VAR_020879 disease phenotype-associated
VAR_020879 phenoCommon Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]
VAR_020880 comment Ovarian cancer
VAR_020880 commonName VAR_020880
VAR_020881 commonName VAR_020881
VAR_020881 disease phenotype-associated
VAR_020881 phenoCommon Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]
VAR_020884 commonName VAR_020884
VAR_020884 disease not phenotype-associated
VAR_020885 commonName VAR_020885
VAR_020885 disease not phenotype-associated
VAR_020887 commonName VAR_020887
VAR_020887 disease not phenotype-associated
VAR_020888 commonName VAR_020888
VAR_020888 disease not phenotype-associated
VAR_020889 commonName VAR_020889
VAR_020889 disease not phenotype-associated
VAR_020890 commonName VAR_020890
VAR_020890 disease not phenotype-associated
VAR_020891 commonName VAR_020891
VAR_020891 disease not phenotype-associated
VAR_020892 commonName VAR_020892
VAR_020892 disease not phenotype-associated
VAR_020893 commonName VAR_020893
VAR_020893 disease not phenotype-associated
VAR_020894 commonName VAR_020894
VAR_020894 disease not phenotype-associated
VAR_020896 commonName VAR_020896
VAR_020896 disease phenotype-associated
VAR_020896 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020897 commonName VAR_020897
VAR_020897 disease not phenotype-associated
VAR_020898 commonName VAR_020898
VAR_020898 disease not phenotype-associated
VAR_020899 commonName VAR_020899
VAR_020899 disease not phenotype-associated
VAR_020900 commonName VAR_020900
VAR_020900 disease phenotype-associated
VAR_020900 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_020901 commonName VAR_020901
VAR_020901 disease not phenotype-associated
VAR_020902 commonName VAR_020902
VAR_020902 disease not phenotype-associated
VAR_020903 commonName VAR_020903
VAR_020903 disease not phenotype-associated
VAR_020904 commonName VAR_020904
VAR_020904 disease not phenotype-associated
VAR_020905 commonName VAR_020905
VAR_020905 disease not phenotype-associated
VAR_020906 commonName VAR_020906
VAR_020906 disease not phenotype-associated
VAR_020907 commonName VAR_020907
VAR_020910 commonName VAR_020910
VAR_020910 disease not phenotype-associated
VAR_020911 commonName VAR_020911
VAR_020911 disease not phenotype-associated
VAR_020912 commonName VAR_020912
VAR_020912 disease not phenotype-associated
VAR_020915 commonName VAR_020915
VAR_020915 disease not phenotype-associated
VAR_020916 commonName VAR_020916
VAR_020916 disease not phenotype-associated
VAR_020917 commonName VAR_020917
VAR_020917 disease not phenotype-associated
VAR_020918 commonName VAR_020918
VAR_020918 disease phenotype-associated
VAR_020918 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_020919 commonName VAR_020919
VAR_020919 disease phenotype-associated
VAR_020919 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_020920 commonName VAR_020920
VAR_020920 disease phenotype-associated
VAR_020920 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300]
VAR_020921 commonName VAR_020921
VAR_020921 disease phenotype-associated
VAR_020921 phenoCommon Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]
VAR_020924 commonName VAR_020924
VAR_020924 disease not phenotype-associated
VAR_020925 commonName VAR_020925
VAR_020925 disease not phenotype-associated
VAR_020926 commonName VAR_020926
VAR_020926 disease not phenotype-associated
VAR_020927 commonName VAR_020927
VAR_020927 disease not phenotype-associated
VAR_020928 commonName VAR_020928
VAR_020928 disease not phenotype-associated
VAR_020929 commonName VAR_020929
VAR_020929 disease not phenotype-associated
VAR_020930 commonName VAR_020930
VAR_020930 disease not phenotype-associated
VAR_020932 commonName VAR_020932
VAR_020932 disease not phenotype-associated
VAR_020936 commonName VAR_020936
VAR_020936 disease not phenotype-associated
VAR_020937 commonName VAR_020937
VAR_020937 disease not phenotype-associated
VAR_020938 commonName VAR_020938
VAR_020938 disease not phenotype-associated
VAR_020939 commonName VAR_020939
VAR_020939 disease not phenotype-associated
VAR_020940 commonName VAR_020940
VAR_020940 disease not phenotype-associated
VAR_020941 commonName VAR_020941
VAR_020941 disease not phenotype-associated
VAR_020942 commonName VAR_020942
VAR_020942 disease not phenotype-associated
VAR_020943 commonName VAR_020943
VAR_020943 disease not phenotype-associated
VAR_020944 commonName VAR_020944
VAR_020944 disease not phenotype-associated
VAR_020945 commonName VAR_020945
VAR_020945 disease not phenotype-associated
VAR_020946 commonName VAR_020946
VAR_020946 disease not phenotype-associated
VAR_020947 commonName VAR_020947
VAR_020947 disease not phenotype-associated
VAR_020948 commonName VAR_020948
VAR_020948 disease not phenotype-associated
VAR_020949 commonName VAR_020949
VAR_020949 disease not phenotype-associated
VAR_020950 commonName VAR_020950
VAR_020950 disease not phenotype-associated
VAR_020951 commonName VAR_020951
VAR_020951 disease not phenotype-associated
VAR_020952 commonName VAR_020952
VAR_020952 disease not phenotype-associated
VAR_020953 commonName VAR_020953
VAR_020953 disease not phenotype-associated
VAR_020954 commonName VAR_020954
VAR_020954 disease not phenotype-associated
VAR_020955 commonName VAR_020955
VAR_020955 disease not phenotype-associated
VAR_020957 commonName VAR_020957
VAR_020957 disease not phenotype-associated
VAR_020958 commonName VAR_020958
VAR_020958 disease not phenotype-associated
VAR_020959 commonName VAR_020959
VAR_020959 disease not phenotype-associated
VAR_020960 commonName VAR_020960
VAR_020960 disease not phenotype-associated
VAR_020961 commonName VAR_020961
VAR_020961 disease not phenotype-associated
VAR_020962 commonName VAR_020962
VAR_020962 disease not phenotype-associated
VAR_020966 commonName VAR_020966
VAR_020966 disease not phenotype-associated
VAR_020967 commonName VAR_020967
VAR_020967 disease not phenotype-associated
VAR_020968 commonName VAR_020968
VAR_020968 disease not phenotype-associated
VAR_020969 commonName VAR_020969
VAR_020969 disease not phenotype-associated
VAR_020970 commonName VAR_020970
VAR_020970 disease not phenotype-associated
VAR_020971 commonName VAR_020971
VAR_020971 disease not phenotype-associated
VAR_020972 commonName VAR_020972
VAR_020972 disease not phenotype-associated
VAR_020973 commonName VAR_020973
VAR_020974 commonName VAR_020974
VAR_020974 disease phenotype-associated
VAR_020974 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740]
VAR_020975 commonName VAR_020975
VAR_020975 disease phenotype-associated
VAR_020975 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020976 commonName VAR_020976
VAR_020977 commonName VAR_020977
VAR_020977 disease phenotype-associated
VAR_020977 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_020978 commonName VAR_020978
VAR_020978 disease phenotype-associated
VAR_020978 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_020979 commonName VAR_020979
VAR_020979 disease phenotype-associated
VAR_020979 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_020980 commonName VAR_020980
VAR_020980 disease phenotype-associated
VAR_020980 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020981 commonName VAR_020981
VAR_020981 disease phenotype-associated
VAR_020981 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020982 commonName VAR_020982
VAR_020982 disease phenotype-associated
VAR_020982 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_020983 commonName VAR_020983
VAR_020983 disease phenotype-associated
VAR_020983 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_020984 commonName VAR_020984
VAR_020984 disease phenotype-associated
VAR_020984 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020985 commonName VAR_020985
VAR_020985 disease phenotype-associated
VAR_020985 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020985 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_020986 commonName VAR_020986
VAR_020986 disease phenotype-associated
VAR_020986 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020987 commonName VAR_020987
VAR_020987 disease phenotype-associated
VAR_020987 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_020988 commonName VAR_020988
VAR_020988 disease phenotype-associated
VAR_020988 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]
VAR_020990 commonName VAR_020990
VAR_020990 disease phenotype-associated
VAR_020990 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]
VAR_020992 commonName VAR_020992
VAR_020992 disease not phenotype-associated
VAR_020993 commonName VAR_020993
VAR_020993 disease phenotype-associated
VAR_020993 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_020995 commonName VAR_020995
VAR_020995 disease phenotype-associated
VAR_020995 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_020996 commonName VAR_020996
VAR_020996 disease phenotype-associated
VAR_020996 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
VAR_020997 commonName VAR_020997
VAR_020997 disease phenotype-associated
VAR_020997 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_020998 commonName VAR_020998
VAR_020998 disease phenotype-associated
VAR_020998 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_020999 commonName VAR_020999
VAR_020999 disease phenotype-associated
VAR_020999 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021000 commonName VAR_021000
VAR_021000 disease phenotype-associated
VAR_021000 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_021001 commonName VAR_021001
VAR_021001 disease phenotype-associated
VAR_021001 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021002 commonName VAR_021002
VAR_021002 disease not phenotype-associated
VAR_021003 commonName VAR_021003
VAR_021003 disease phenotype-associated
VAR_021003 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_021004 commonName VAR_021004
VAR_021004 disease phenotype-associated
VAR_021004 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021005 commonName VAR_021005
VAR_021005 disease phenotype-associated
VAR_021005 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021006 commonName VAR_021006
VAR_021006 disease phenotype-associated
VAR_021006 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_021007 commonName VAR_021007
VAR_021007 disease phenotype-associated
VAR_021007 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021008 commonName VAR_021008
VAR_021008 disease phenotype-associated
VAR_021008 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_021009 commonName VAR_021009
VAR_021009 disease phenotype-associated
VAR_021009 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
VAR_021010 commonName VAR_021010
VAR_021010 disease phenotype-associated
VAR_021010 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
VAR_021011 commonName VAR_021011
VAR_021011 disease not phenotype-associated
VAR_021012 commonName VAR_021012
VAR_021012 disease phenotype-associated
VAR_021012 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
VAR_021013 commonName VAR_021013
VAR_021013 disease phenotype-associated
VAR_021013 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
VAR_021014 commonName VAR_021014
VAR_021014 disease not phenotype-associated
VAR_021016 commonName VAR_021016
VAR_021016 disease phenotype-associated
VAR_021016 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_021016 phenoCommon Myopathy distal Tateyama type (MPDT) [MIM:614321]
VAR_021017 commonName VAR_021017
VAR_021017 disease phenotype-associated
VAR_021017 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_021018 commonName VAR_021018
VAR_021018 disease phenotype-associated
VAR_021018 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
VAR_021019 commonName VAR_021019
VAR_021020 commonName VAR_021020
VAR_021020 disease phenotype-associated
VAR_021020 phenoCommon Familial CD8 deficiency (CD8 deficiency) [MIM:608957]
VAR_021021 commonName VAR_021021
VAR_021021 disease not phenotype-associated
VAR_021022 commonName VAR_021022
VAR_021022 disease not phenotype-associated
VAR_021023 commonName VAR_021023
VAR_021023 disease not phenotype-associated
VAR_021024 commonName VAR_021024
VAR_021024 disease not phenotype-associated
VAR_021027 commonName VAR_021027
VAR_021027 disease not phenotype-associated
VAR_021029 commonName VAR_021029
VAR_021029 disease not phenotype-associated
VAR_021030 commonName VAR_021030
VAR_021030 disease not phenotype-associated
VAR_021031 commonName VAR_021031
VAR_021031 disease not phenotype-associated
VAR_021032 commonName VAR_021032
VAR_021032 disease not phenotype-associated
VAR_021033 commonName VAR_021033
VAR_021033 disease not phenotype-associated
VAR_021034 commonName VAR_021034
VAR_021034 disease not phenotype-associated
VAR_021035 commonName VAR_021035
VAR_021035 disease not phenotype-associated
VAR_021036 commonName VAR_021036
VAR_021036 disease not phenotype-associated
VAR_021037 commonName VAR_021037
VAR_021037 disease not phenotype-associated
VAR_021038 commonName VAR_021038
VAR_021038 disease not phenotype-associated
VAR_021039 commonName VAR_021039
VAR_021039 disease not phenotype-associated
VAR_021040 commonName VAR_021040
VAR_021040 disease not phenotype-associated
VAR_021041 commonName VAR_021041
VAR_021041 disease not phenotype-associated
VAR_021042 commonName VAR_021042
VAR_021042 disease not phenotype-associated
VAR_021043 commonName VAR_021043
VAR_021043 disease not phenotype-associated
VAR_021044 commonName VAR_021044
VAR_021044 disease not phenotype-associated
VAR_021045 commonName VAR_021045
VAR_021045 disease not phenotype-associated
VAR_021046 commonName VAR_021046
VAR_021046 disease phenotype-associated
VAR_021046 phenoCommon Retinitis pigmentosa type 38 (RP38) [MIM:613862]
VAR_021047 commonName VAR_021047
VAR_021047 disease phenotype-associated
VAR_021047 phenoCommon Retinitis pigmentosa type 38 (RP38) [MIM:613862]
VAR_021050 commonName VAR_021050
VAR_021051 commonName VAR_021051
VAR_021051 disease not phenotype-associated
VAR_021052 commonName VAR_021052
VAR_021052 disease not phenotype-associated
VAR_021053 commonName VAR_021053
VAR_021053 disease phenotype-associated
VAR_021053 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_021054 commonName VAR_021054
VAR_021054 disease not phenotype-associated
VAR_021055 commonName VAR_021055
VAR_021055 disease phenotype-associated
VAR_021055 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_021056 commonName VAR_021056
VAR_021056 disease phenotype-associated
VAR_021056 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
VAR_021059 commonName VAR_021059
VAR_021059 disease phenotype-associated
VAR_021059 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_021060 commonName VAR_021060
VAR_021060 disease phenotype-associated
VAR_021060 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_021061 commonName VAR_021061
VAR_021061 disease not phenotype-associated
VAR_021062 commonName VAR_021062
VAR_021062 disease not phenotype-associated
VAR_021063 commonName VAR_021063
VAR_021063 disease not phenotype-associated
VAR_021064 commonName VAR_021064
VAR_021064 disease not phenotype-associated
VAR_021065 commonName VAR_021065
VAR_021065 disease not phenotype-associated
VAR_021066 commonName VAR_021066
VAR_021066 disease not phenotype-associated
VAR_021067 commonName VAR_021067
VAR_021067 disease not phenotype-associated
VAR_021068 commonName VAR_021068
VAR_021068 disease not phenotype-associated
VAR_021069 commonName VAR_021069
VAR_021069 disease not phenotype-associated
VAR_021070 commonName VAR_021070
VAR_021070 disease not phenotype-associated
VAR_021071 commonName VAR_021071
VAR_021071 disease not phenotype-associated
VAR_021072 commonName VAR_021072
VAR_021072 disease not phenotype-associated
VAR_021073 commonName VAR_021073
VAR_021073 disease not phenotype-associated
VAR_021074 commonName VAR_021074
VAR_021074 disease not phenotype-associated
VAR_021075 commonName VAR_021075
VAR_021075 disease not phenotype-associated
VAR_021076 commonName VAR_021076
VAR_021076 disease not phenotype-associated
VAR_021077 commonName VAR_021077
VAR_021077 disease not phenotype-associated
VAR_021078 commonName VAR_021078
VAR_021078 disease not phenotype-associated
VAR_021081 commonName VAR_021081
VAR_021081 disease not phenotype-associated
VAR_021082 commonName VAR_021082
VAR_021082 disease not phenotype-associated
VAR_021083 commonName VAR_021083
VAR_021083 disease not phenotype-associated
VAR_021084 commonName VAR_021084
VAR_021084 disease not phenotype-associated
VAR_021085 commonName VAR_021085
VAR_021085 disease not phenotype-associated
VAR_021086 commonName VAR_021086
VAR_021086 disease not phenotype-associated
VAR_021089 commonName VAR_021089
VAR_021089 disease not phenotype-associated
VAR_021090 commonName VAR_021090
VAR_021090 disease not phenotype-associated
VAR_021091 commonName VAR_021091
VAR_021091 disease not phenotype-associated
VAR_021092 commonName VAR_021092
VAR_021092 disease not phenotype-associated
VAR_021093 commonName VAR_021093
VAR_021093 disease not phenotype-associated
VAR_021094 commonName VAR_021094
VAR_021094 disease not phenotype-associated
VAR_021095 commonName VAR_021095
VAR_021095 disease not phenotype-associated
VAR_021096 commonName VAR_021096
VAR_021096 disease not phenotype-associated
VAR_021097 commonName VAR_021097
VAR_021097 disease not phenotype-associated
VAR_021098 commonName VAR_021098
VAR_021098 disease not phenotype-associated
VAR_021099 commonName VAR_021099
VAR_021099 disease not phenotype-associated
VAR_021101 commonName VAR_021101
VAR_021101 disease not phenotype-associated
VAR_021102 commonName VAR_021102
VAR_021102 disease not phenotype-associated
VAR_021103 commonName VAR_021103
VAR_021103 disease not phenotype-associated
VAR_021104 commonName VAR_021104
VAR_021104 disease not phenotype-associated
VAR_021105 commonName VAR_021105
VAR_021105 disease not phenotype-associated
VAR_021106 commonName VAR_021106
VAR_021106 disease not phenotype-associated
VAR_021109 commonName VAR_021109
VAR_021109 disease not phenotype-associated
VAR_021110 commonName VAR_021110
VAR_021110 disease phenotype-associated
VAR_021110 phenoCommon Hemolytic anemia (HAGGSD) [MIM:230450]
VAR_021111 commonName VAR_021111
VAR_021111 disease not phenotype-associated
VAR_021112 commonName VAR_021112
VAR_021112 disease not phenotype-associated
VAR_021113 commonName VAR_021113
VAR_021113 disease not phenotype-associated
VAR_021114 commonName VAR_021114
VAR_021114 disease not phenotype-associated
VAR_021115 commonName VAR_021115
VAR_021115 disease not phenotype-associated
VAR_021123 commonName VAR_021123
VAR_021123 disease not phenotype-associated
VAR_021124 commonName VAR_021124
VAR_021124 disease not phenotype-associated
VAR_021125 commonName VAR_021125
VAR_021125 disease phenotype-associated
VAR_021125 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021126 commonName VAR_021126
VAR_021126 disease phenotype-associated
VAR_021126 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021127 commonName VAR_021127
VAR_021127 disease phenotype-associated
VAR_021127 phenoCommon Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]
VAR_021128 commonName VAR_021128
VAR_021128 disease phenotype-associated
VAR_021128 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021129 commonName VAR_021129
VAR_021129 disease phenotype-associated
VAR_021129 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021130 commonName VAR_021130
VAR_021130 disease phenotype-associated
VAR_021130 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021131 commonName VAR_021131
VAR_021131 disease phenotype-associated
VAR_021131 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021132 commonName VAR_021132
VAR_021132 disease phenotype-associated
VAR_021132 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021133 commonName VAR_021133
VAR_021133 disease phenotype-associated
VAR_021133 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021135 commonName VAR_021135
VAR_021135 disease phenotype-associated
VAR_021135 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021136 commonName VAR_021136
VAR_021136 disease phenotype-associated
VAR_021136 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021137 commonName VAR_021137
VAR_021137 disease phenotype-associated
VAR_021137 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021138 commonName VAR_021138
VAR_021138 disease phenotype-associated
VAR_021138 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
VAR_021139 commonName VAR_021139
VAR_021139 disease not phenotype-associated
VAR_021140 commonName VAR_021140
VAR_021140 disease not phenotype-associated
VAR_021141 commonName VAR_021141
VAR_021141 disease not phenotype-associated
VAR_021142 commonName VAR_021142
VAR_021142 disease phenotype-associated
VAR_021142 phenoCommon Cataract Coppock-like (CCL) [MIM:604307]
VAR_021143 commonName VAR_021143
VAR_021143 disease not phenotype-associated
VAR_021144 commonName VAR_021144
VAR_021144 disease phenotype-associated
VAR_021144 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_021145 commonName VAR_021145
VAR_021145 disease phenotype-associated
VAR_021145 phenoCommon Cataract congenital cerulean type 3 (CCA3) [MIM:608983]
VAR_021146 commonName VAR_021146
VAR_021146 disease not phenotype-associated
VAR_021147 commonName VAR_021147
VAR_021147 disease not phenotype-associated
VAR_021148 commonName VAR_021148
VAR_021149 commonName VAR_021149
VAR_021149 disease phenotype-associated
VAR_021149 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_021150 commonName VAR_021150
VAR_021150 disease phenotype-associated
VAR_021150 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_021151 commonName VAR_021151
VAR_021151 disease phenotype-associated
VAR_021151 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_021152 commonName VAR_021152
VAR_021152 disease phenotype-associated
VAR_021152 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
VAR_021153 commonName VAR_021153
VAR_021153 disease not phenotype-associated
VAR_021154 commonName VAR_021154
VAR_021154 disease phenotype-associated
VAR_021154 phenoCommon Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
VAR_021155 commonName VAR_021155
VAR_021155 disease phenotype-associated
VAR_021155 phenoCommon Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]
VAR_021155 phenoCommon Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]
VAR_021162 commonName VAR_021162
VAR_021162 disease not phenotype-associated
VAR_021163 commonName VAR_021163
VAR_021163 disease not phenotype-associated
VAR_021164 commonName VAR_021164
VAR_021164 disease not phenotype-associated
VAR_021165 commonName VAR_021165
VAR_021165 disease not phenotype-associated
VAR_021166 commonName VAR_021166
VAR_021166 disease not phenotype-associated
VAR_021167 commonName VAR_021167
VAR_021167 disease not phenotype-associated
VAR_021169 commonName VAR_021169
VAR_021169 disease not phenotype-associated
VAR_021170 commonName VAR_021170
VAR_021170 disease not phenotype-associated
VAR_021173 commonName VAR_021173
VAR_021173 disease not phenotype-associated
VAR_021174 commonName VAR_021174
VAR_021174 disease not phenotype-associated
VAR_021175 commonName VAR_021175
VAR_021175 disease not phenotype-associated
VAR_021177 commonName VAR_021177
VAR_021177 disease not phenotype-associated
VAR_021194 comment Leukemia
VAR_021194 commonName VAR_021194
VAR_021195 commonName VAR_021195
VAR_021195 disease phenotype-associated
VAR_021195 phenoCommon Ovarian dysgenesis type 2 (ODG2) [MIM:300510]
VAR_021196 commonName VAR_021196
VAR_021196 disease phenotype-associated
VAR_021196 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021197 commonName VAR_021197
VAR_021197 disease phenotype-associated
VAR_021197 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021198 commonName VAR_021198
VAR_021198 disease phenotype-associated
VAR_021198 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021199 commonName VAR_021199
VAR_021199 disease phenotype-associated
VAR_021199 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021200 commonName VAR_021200
VAR_021200 disease phenotype-associated
VAR_021200 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021201 commonName VAR_021201
VAR_021201 disease not phenotype-associated
VAR_021202 commonName VAR_021202
VAR_021202 disease phenotype-associated
VAR_021202 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021203 commonName VAR_021203
VAR_021203 disease phenotype-associated
VAR_021203 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_021204 commonName VAR_021204
VAR_021204 disease phenotype-associated
VAR_021204 phenoCommon Premature ovarian failure type 3 (POF3) [MIM:608996]
VAR_021206 commonName VAR_021206
VAR_021206 disease phenotype-associated
VAR_021206 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021207 commonName VAR_021207
VAR_021207 disease phenotype-associated
VAR_021207 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_021208 commonName VAR_021208
VAR_021208 disease phenotype-associated
VAR_021208 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021209 commonName VAR_021209
VAR_021209 disease phenotype-associated
VAR_021209 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021210 commonName VAR_021210
VAR_021210 disease phenotype-associated
VAR_021210 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021211 commonName VAR_021211
VAR_021211 disease phenotype-associated
VAR_021211 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021212 commonName VAR_021212
VAR_021212 disease phenotype-associated
VAR_021212 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_021213 commonName VAR_021213
VAR_021213 disease phenotype-associated
VAR_021213 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021214 commonName VAR_021214
VAR_021214 disease phenotype-associated
VAR_021214 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021215 commonName VAR_021215
VAR_021215 disease phenotype-associated
VAR_021215 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_021216 commonName VAR_021216
VAR_021216 disease phenotype-associated
VAR_021216 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_021217 commonName VAR_021217
VAR_021217 disease phenotype-associated
VAR_021217 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_021218 commonName VAR_021218
VAR_021218 disease phenotype-associated
VAR_021218 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_021219 commonName VAR_021219
VAR_021219 disease phenotype-associated
VAR_021219 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_021222 commonName VAR_021222
VAR_021222 disease phenotype-associated
VAR_021222 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_021223 commonName VAR_021223
VAR_021223 disease phenotype-associated
VAR_021223 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_021227 commonName VAR_021227
VAR_021227 disease phenotype-associated
VAR_021227 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021228 commonName VAR_021228
VAR_021228 disease phenotype-associated
VAR_021228 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021229 commonName VAR_021229
VAR_021229 disease not phenotype-associated
VAR_021230 commonName VAR_021230
VAR_021230 disease phenotype-associated
VAR_021230 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021231 commonName VAR_021231
VAR_021231 disease not phenotype-associated
VAR_021232 commonName VAR_021232
VAR_021232 disease phenotype-associated
VAR_021232 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021233 commonName VAR_021233
VAR_021233 disease not phenotype-associated
VAR_021234 commonName VAR_021234
VAR_021234 disease phenotype-associated
VAR_021234 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021235 commonName VAR_021235
VAR_021235 disease not phenotype-associated
VAR_021236 commonName VAR_021236
VAR_021236 disease phenotype-associated
VAR_021236 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750]
VAR_021237 commonName VAR_021237
VAR_021237 disease not phenotype-associated
VAR_021239 commonName VAR_021239
VAR_021239 disease not phenotype-associated
VAR_021240 commonName VAR_021240
VAR_021240 disease not phenotype-associated
VAR_021241 commonName VAR_021241
VAR_021241 disease not phenotype-associated
VAR_021242 commonName VAR_021242
VAR_021242 disease not phenotype-associated
VAR_021243 commonName VAR_021243
VAR_021243 disease not phenotype-associated
VAR_021244 commonName VAR_021244
VAR_021244 disease not phenotype-associated
VAR_021246 commonName VAR_021246
VAR_021246 disease not phenotype-associated
VAR_021247 commonName VAR_021247
VAR_021247 disease not phenotype-associated
VAR_021249 commonName VAR_021249
VAR_021249 disease not phenotype-associated
VAR_021250 commonName VAR_021250
VAR_021250 disease not phenotype-associated
VAR_021251 commonName VAR_021251
VAR_021251 disease not phenotype-associated
VAR_021252 commonName VAR_021252
VAR_021252 disease not phenotype-associated
VAR_021255 commonName VAR_021255
VAR_021255 disease not phenotype-associated
VAR_021256 commonName VAR_021256
VAR_021256 disease not phenotype-associated
VAR_021258 commonName VAR_021258
VAR_021258 disease not phenotype-associated
VAR_021260 commonName VAR_021260
VAR_021260 disease not phenotype-associated
VAR_021261 commonName VAR_021261
VAR_021261 disease not phenotype-associated
VAR_021262 commonName VAR_021262
VAR_021262 disease not phenotype-associated
VAR_021263 commonName VAR_021263
VAR_021263 disease phenotype-associated
VAR_021263 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]
VAR_021264 commonName VAR_021264
VAR_021264 disease not phenotype-associated
VAR_021265 commonName VAR_021265
VAR_021265 disease not phenotype-associated
VAR_021266 commonName VAR_021266
VAR_021266 disease not phenotype-associated
VAR_021267 commonName VAR_021267
VAR_021267 disease not phenotype-associated
VAR_021268 commonName VAR_021268
VAR_021268 disease not phenotype-associated
VAR_021269 commonName VAR_021269
VAR_021269 disease not phenotype-associated
VAR_021270 commonName VAR_021270
VAR_021270 disease not phenotype-associated
VAR_021271 commonName VAR_021271
VAR_021271 disease not phenotype-associated
VAR_021272 commonName VAR_021272
VAR_021272 disease not phenotype-associated
VAR_021273 commonName VAR_021273
VAR_021273 disease not phenotype-associated
VAR_021274 commonName VAR_021274
VAR_021274 disease not phenotype-associated
VAR_021275 commonName VAR_021275
VAR_021275 disease not phenotype-associated
VAR_021276 commonName VAR_021276
VAR_021276 disease not phenotype-associated
VAR_021277 commonName VAR_021277
VAR_021277 disease not phenotype-associated
VAR_021278 commonName VAR_021278
VAR_021278 disease not phenotype-associated
VAR_021279 commonName VAR_021279
VAR_021279 disease not phenotype-associated
VAR_021281 commonName VAR_021281
VAR_021281 disease not phenotype-associated
VAR_021282 commonName VAR_021282
VAR_021282 disease not phenotype-associated
VAR_021283 commonName VAR_021283
VAR_021283 disease not phenotype-associated
VAR_021284 commonName VAR_021284
VAR_021284 disease not phenotype-associated
VAR_021285 commonName VAR_021285
VAR_021285 disease not phenotype-associated
VAR_021286 commonName VAR_021286
VAR_021286 disease not phenotype-associated
VAR_021287 commonName VAR_021287
VAR_021287 disease not phenotype-associated
VAR_021288 commonName VAR_021288
VAR_021288 disease not phenotype-associated
VAR_021289 commonName VAR_021289
VAR_021289 disease not phenotype-associated
VAR_021290 commonName VAR_021290
VAR_021290 disease not phenotype-associated
VAR_021292 commonName VAR_021292
VAR_021292 disease not phenotype-associated
VAR_021293 commonName VAR_021293
VAR_021293 disease not phenotype-associated
VAR_021294 commonName VAR_021294
VAR_021294 disease not phenotype-associated
VAR_021295 commonName VAR_021295
VAR_021295 disease not phenotype-associated
VAR_021297 commonName VAR_021297
VAR_021297 disease not phenotype-associated
VAR_021298 commonName VAR_021298
VAR_021298 disease not phenotype-associated
VAR_021299 commonName VAR_021299
VAR_021299 disease not phenotype-associated
VAR_021300 commonName VAR_021300
VAR_021300 disease not phenotype-associated
VAR_021301 commonName VAR_021301
VAR_021301 disease not phenotype-associated
VAR_021302 commonName VAR_021302
VAR_021302 disease not phenotype-associated
VAR_021303 commonName VAR_021303
VAR_021303 disease not phenotype-associated
VAR_021304 commonName VAR_021304
VAR_021304 disease not phenotype-associated
VAR_021305 commonName VAR_021305
VAR_021305 disease not phenotype-associated
VAR_021306 commonName VAR_021306
VAR_021306 disease not phenotype-associated
VAR_021307 commonName VAR_021307
VAR_021307 disease not phenotype-associated
VAR_021308 commonName VAR_021308
VAR_021308 disease not phenotype-associated
VAR_021309 commonName VAR_021309
VAR_021309 disease not phenotype-associated
VAR_021310 commonName VAR_021310
VAR_021310 disease not phenotype-associated
VAR_021311 commonName VAR_021311
VAR_021311 disease not phenotype-associated
VAR_021312 commonName VAR_021312
VAR_021312 disease not phenotype-associated
VAR_021313 commonName VAR_021313
VAR_021313 disease not phenotype-associated
VAR_021314 commonName VAR_021314
VAR_021314 disease not phenotype-associated
VAR_021315 commonName VAR_021315
VAR_021315 disease not phenotype-associated
VAR_021316 commonName VAR_021316
VAR_021316 disease not phenotype-associated
VAR_021317 commonName VAR_021317
VAR_021317 disease not phenotype-associated
VAR_021318 commonName VAR_021318
VAR_021318 disease not phenotype-associated
VAR_021319 commonName VAR_021319
VAR_021319 disease not phenotype-associated
VAR_021320 commonName VAR_021320
VAR_021320 disease not phenotype-associated
VAR_021321 commonName VAR_021321
VAR_021321 disease not phenotype-associated
VAR_021322 commonName VAR_021322
VAR_021322 disease not phenotype-associated
VAR_021323 commonName VAR_021323
VAR_021323 disease not phenotype-associated
VAR_021324 commonName VAR_021324
VAR_021324 disease not phenotype-associated
VAR_021325 commonName VAR_021325
VAR_021325 disease not phenotype-associated
VAR_021326 commonName VAR_021326
VAR_021326 disease not phenotype-associated
VAR_021327 commonName VAR_021327
VAR_021327 disease not phenotype-associated
VAR_021328 commonName VAR_021328
VAR_021328 disease not phenotype-associated
VAR_021329 commonName VAR_021329
VAR_021329 disease not phenotype-associated
VAR_021337 commonName VAR_021337
VAR_021337 disease not phenotype-associated
VAR_021338 commonName VAR_021338
VAR_021338 disease not phenotype-associated
VAR_021339 commonName VAR_021339
VAR_021339 disease not phenotype-associated
VAR_021340 commonName VAR_021340
VAR_021340 disease not phenotype-associated
VAR_021341 commonName VAR_021341
VAR_021341 disease not phenotype-associated
VAR_021343 commonName VAR_021343
VAR_021343 disease not phenotype-associated
VAR_021344 commonName VAR_021344
VAR_021344 disease not phenotype-associated
VAR_021345 commonName VAR_021345
VAR_021345 disease not phenotype-associated
VAR_021346 commonName VAR_021346
VAR_021346 disease not phenotype-associated
VAR_021347 commonName VAR_021347
VAR_021347 disease not phenotype-associated
VAR_021348 commonName VAR_021348
VAR_021348 disease not phenotype-associated
VAR_021349 commonName VAR_021349
VAR_021349 disease not phenotype-associated
VAR_021350 commonName VAR_021350
VAR_021350 disease not phenotype-associated
VAR_021351 commonName VAR_021351
VAR_021351 disease not phenotype-associated
VAR_021352 commonName VAR_021352
VAR_021352 disease not phenotype-associated
VAR_021353 commonName VAR_021353
VAR_021353 disease not phenotype-associated
VAR_021354 commonName VAR_021354
VAR_021354 disease not phenotype-associated
VAR_021355 commonName VAR_021355
VAR_021355 disease not phenotype-associated
VAR_021356 commonName VAR_021356
VAR_021356 disease not phenotype-associated
VAR_021357 commonName VAR_021357
VAR_021357 disease not phenotype-associated
VAR_021359 commonName VAR_021359
VAR_021359 disease not phenotype-associated
VAR_021360 commonName VAR_021360
VAR_021360 disease not phenotype-associated
VAR_021361 commonName VAR_021361
VAR_021361 disease not phenotype-associated
VAR_021362 commonName VAR_021362
VAR_021363 commonName VAR_021363
VAR_021363 disease not phenotype-associated
VAR_021364 commonName VAR_021364
VAR_021364 disease not phenotype-associated
VAR_021365 commonName VAR_021365
VAR_021365 disease not phenotype-associated
VAR_021366 commonName VAR_021366
VAR_021366 disease not phenotype-associated
VAR_021367 commonName VAR_021367
VAR_021367 disease not phenotype-associated
VAR_021368 commonName VAR_021368
VAR_021368 disease not phenotype-associated
VAR_021369 commonName VAR_021369
VAR_021369 disease not phenotype-associated
VAR_021370 commonName VAR_021370
VAR_021370 disease phenotype-associated
VAR_021370 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021371 commonName VAR_021371
VAR_021371 disease phenotype-associated
VAR_021371 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021372 commonName VAR_021372
VAR_021372 disease phenotype-associated
VAR_021372 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021373 commonName VAR_021373
VAR_021373 disease phenotype-associated
VAR_021373 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021374 commonName VAR_021374
VAR_021374 disease phenotype-associated
VAR_021374 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021375 commonName VAR_021375
VAR_021375 disease phenotype-associated
VAR_021375 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021376 commonName VAR_021376
VAR_021376 disease phenotype-associated
VAR_021376 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021377 commonName VAR_021377
VAR_021377 disease phenotype-associated
VAR_021377 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021378 commonName VAR_021378
VAR_021378 disease not phenotype-associated
VAR_021379 commonName VAR_021379
VAR_021379 disease phenotype-associated
VAR_021379 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021380 commonName VAR_021380
VAR_021380 disease not phenotype-associated
VAR_021381 commonName VAR_021381
VAR_021381 disease phenotype-associated
VAR_021381 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021382 commonName VAR_021382
VAR_021382 disease phenotype-associated
VAR_021382 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]
VAR_021383 commonName VAR_021383
VAR_021383 disease not phenotype-associated
VAR_021384 commonName VAR_021384
VAR_021384 disease not phenotype-associated
VAR_021385 commonName VAR_021385
VAR_021385 disease phenotype-associated
VAR_021385 phenoCommon Simpson-Golabi-Behmel syndrome type 1 (SGBS1) [MIM:312870]
VAR_021386 commonName VAR_021386
VAR_021386 disease phenotype-associated
VAR_021386 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584]
VAR_021387 commonName VAR_021387
VAR_021387 disease not phenotype-associated
VAR_021388 commonName VAR_021388
VAR_021388 disease phenotype-associated
VAR_021388 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
VAR_021389 commonName VAR_021389
VAR_021389 disease phenotype-associated
VAR_021389 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
VAR_021390 commonName VAR_021390
VAR_021390 disease phenotype-associated
VAR_021390 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]
VAR_021391 commonName VAR_021391
VAR_021391 disease not phenotype-associated
VAR_021392 commonName VAR_021392
VAR_021392 disease phenotype-associated
VAR_021392 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_021393 commonName VAR_021393
VAR_021393 disease phenotype-associated
VAR_021393 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_021394 commonName VAR_021394
VAR_021394 disease phenotype-associated
VAR_021394 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_021395 commonName VAR_021395
VAR_021395 disease not phenotype-associated
VAR_021396 commonName VAR_021396
VAR_021396 disease not phenotype-associated
VAR_021397 commonName VAR_021397
VAR_021397 disease not phenotype-associated
VAR_021398 commonName VAR_021398
VAR_021398 disease not phenotype-associated
VAR_021399 commonName VAR_021399
VAR_021399 disease not phenotype-associated
VAR_021400 commonName VAR_021400
VAR_021400 disease not phenotype-associated
VAR_021401 commonName VAR_021401
VAR_021401 disease not phenotype-associated
VAR_021402 commonName VAR_021402
VAR_021402 disease not phenotype-associated
VAR_021403 commonName VAR_021403
VAR_021403 disease not phenotype-associated
VAR_021404 commonName VAR_021404
VAR_021404 disease not phenotype-associated
VAR_021405 commonName VAR_021405
VAR_021405 disease not phenotype-associated
VAR_021406 commonName VAR_021406
VAR_021406 disease not phenotype-associated
VAR_021407 commonName VAR_021407
VAR_021407 disease not phenotype-associated
VAR_021408 commonName VAR_021408
VAR_021408 disease not phenotype-associated
VAR_021409 commonName VAR_021409
VAR_021409 disease not phenotype-associated
VAR_021411 commonName VAR_021411
VAR_021411 disease not phenotype-associated
VAR_021412 commonName VAR_021412
VAR_021412 disease not phenotype-associated
VAR_021413 commonName VAR_021413
VAR_021413 disease phenotype-associated
VAR_021413 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
VAR_021414 commonName VAR_021414
VAR_021414 disease not phenotype-associated
VAR_021415 commonName VAR_021415
VAR_021415 disease not phenotype-associated
VAR_021416 commonName VAR_021416
VAR_021416 disease not phenotype-associated
VAR_021417 commonName VAR_021417
VAR_021417 disease phenotype-associated
VAR_021417 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021418 commonName VAR_021418
VAR_021418 disease phenotype-associated
VAR_021418 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021419 commonName VAR_021419
VAR_021419 disease phenotype-associated
VAR_021419 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021420 commonName VAR_021420
VAR_021420 disease phenotype-associated
VAR_021420 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021421 commonName VAR_021421
VAR_021421 disease phenotype-associated
VAR_021421 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021422 commonName VAR_021422
VAR_021422 disease phenotype-associated
VAR_021422 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021423 commonName VAR_021423
VAR_021423 disease phenotype-associated
VAR_021423 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021424 commonName VAR_021424
VAR_021424 disease phenotype-associated
VAR_021424 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021425 commonName VAR_021425
VAR_021425 disease phenotype-associated
VAR_021425 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021426 commonName VAR_021426
VAR_021426 disease phenotype-associated
VAR_021426 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021427 commonName VAR_021427
VAR_021427 disease phenotype-associated
VAR_021427 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021428 commonName VAR_021428
VAR_021428 disease phenotype-associated
VAR_021428 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021429 commonName VAR_021429
VAR_021429 disease phenotype-associated
VAR_021429 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021430 commonName VAR_021430
VAR_021430 disease phenotype-associated
VAR_021430 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021431 commonName VAR_021431
VAR_021431 disease phenotype-associated
VAR_021431 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021432 commonName VAR_021432
VAR_021432 disease phenotype-associated
VAR_021432 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021433 commonName VAR_021433
VAR_021433 disease phenotype-associated
VAR_021433 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021434 commonName VAR_021434
VAR_021434 disease phenotype-associated
VAR_021434 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021435 commonName VAR_021435
VAR_021435 disease phenotype-associated
VAR_021435 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021436 commonName VAR_021436
VAR_021436 disease phenotype-associated
VAR_021436 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021437 commonName VAR_021437
VAR_021437 disease phenotype-associated
VAR_021437 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021438 commonName VAR_021438
VAR_021438 disease phenotype-associated
VAR_021438 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021439 commonName VAR_021439
VAR_021439 disease phenotype-associated
VAR_021439 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021440 commonName VAR_021440
VAR_021440 disease phenotype-associated
VAR_021440 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021441 commonName VAR_021441
VAR_021441 disease phenotype-associated
VAR_021441 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021442 commonName VAR_021442
VAR_021442 disease phenotype-associated
VAR_021442 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021443 commonName VAR_021443
VAR_021443 disease phenotype-associated
VAR_021443 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021444 commonName VAR_021444
VAR_021444 disease phenotype-associated
VAR_021444 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021445 commonName VAR_021445
VAR_021445 disease phenotype-associated
VAR_021445 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021446 commonName VAR_021446
VAR_021446 disease phenotype-associated
VAR_021446 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021447 commonName VAR_021447
VAR_021447 disease phenotype-associated
VAR_021447 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021448 commonName VAR_021448
VAR_021448 disease phenotype-associated
VAR_021448 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021449 commonName VAR_021449
VAR_021449 disease phenotype-associated
VAR_021449 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021450 commonName VAR_021450
VAR_021450 disease phenotype-associated
VAR_021450 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021451 commonName VAR_021451
VAR_021451 disease phenotype-associated
VAR_021451 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021452 commonName VAR_021452
VAR_021452 disease phenotype-associated
VAR_021452 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021453 commonName VAR_021453
VAR_021453 disease phenotype-associated
VAR_021453 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021454 commonName VAR_021454
VAR_021454 disease phenotype-associated
VAR_021454 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021455 commonName VAR_021455
VAR_021455 disease phenotype-associated
VAR_021455 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021456 commonName VAR_021456
VAR_021456 disease phenotype-associated
VAR_021456 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021457 commonName VAR_021457
VAR_021457 disease phenotype-associated
VAR_021457 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021458 commonName VAR_021458
VAR_021458 disease phenotype-associated
VAR_021458 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021459 commonName VAR_021459
VAR_021459 disease phenotype-associated
VAR_021459 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021460 commonName VAR_021460
VAR_021460 disease phenotype-associated
VAR_021460 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021461 commonName VAR_021461
VAR_021461 disease phenotype-associated
VAR_021461 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021462 commonName VAR_021462
VAR_021462 disease phenotype-associated
VAR_021462 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021463 commonName VAR_021463
VAR_021463 disease phenotype-associated
VAR_021463 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021464 commonName VAR_021464
VAR_021464 disease phenotype-associated
VAR_021464 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021465 commonName VAR_021465
VAR_021465 disease phenotype-associated
VAR_021465 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021466 commonName VAR_021466
VAR_021466 disease phenotype-associated
VAR_021466 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021467 commonName VAR_021467
VAR_021467 disease phenotype-associated
VAR_021467 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021468 commonName VAR_021468
VAR_021468 disease phenotype-associated
VAR_021468 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021469 commonName VAR_021469
VAR_021469 disease phenotype-associated
VAR_021469 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800]
VAR_021470 commonName VAR_021470
VAR_021470 disease not phenotype-associated
VAR_021471 commonName VAR_021471
VAR_021471 disease not phenotype-associated
VAR_021472 commonName VAR_021472
VAR_021472 disease not phenotype-associated
VAR_021473 commonName VAR_021473
VAR_021473 disease not phenotype-associated
VAR_021474 commonName VAR_021474
VAR_021474 disease not phenotype-associated
VAR_021477 commonName VAR_021477
VAR_021477 disease not phenotype-associated
VAR_021478 commonName VAR_021478
VAR_021478 disease not phenotype-associated
VAR_021479 commonName VAR_021479
VAR_021479 disease not phenotype-associated
VAR_021480 commonName VAR_021480
VAR_021480 disease not phenotype-associated
VAR_021481 commonName VAR_021481
VAR_021481 disease phenotype-associated
VAR_021481 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_021482 commonName VAR_021482
VAR_021482 disease phenotype-associated
VAR_021482 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
VAR_021483 commonName VAR_021483
VAR_021483 disease not phenotype-associated
VAR_021484 commonName VAR_021484
VAR_021484 disease not phenotype-associated
VAR_021485 commonName VAR_021485
VAR_021485 disease not phenotype-associated
VAR_021487 commonName VAR_021487
VAR_021487 disease not phenotype-associated
VAR_021488 commonName VAR_021488
VAR_021488 disease not phenotype-associated
VAR_021489 commonName VAR_021489
VAR_021489 disease not phenotype-associated
VAR_021490 commonName VAR_021490
VAR_021490 disease not phenotype-associated
VAR_021491 commonName VAR_021491
VAR_021491 disease not phenotype-associated
VAR_021492 commonName VAR_021492
VAR_021492 disease not phenotype-associated
VAR_021493 commonName VAR_021493
VAR_021493 disease not phenotype-associated
VAR_021494 commonName VAR_021494
VAR_021494 disease not phenotype-associated
VAR_021495 commonName VAR_021495
VAR_021495 disease phenotype-associated
VAR_021495 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
VAR_021496 commonName VAR_021496
VAR_021497 commonName VAR_021497
VAR_021498 commonName VAR_021498
VAR_021499 commonName VAR_021499
VAR_021499 disease phenotype-associated
VAR_021499 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]
VAR_021500 commonName VAR_021500
VAR_021501 commonName VAR_021501
VAR_021502 commonName VAR_021502
VAR_021502 disease phenotype-associated
VAR_021502 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
VAR_021503 commonName VAR_021503
VAR_021503 disease phenotype-associated
VAR_021503 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
VAR_021504 commonName VAR_021504
VAR_021504 disease phenotype-associated
VAR_021504 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824]
VAR_021505 commonName VAR_021505
VAR_021505 disease not phenotype-associated
VAR_021506 commonName VAR_021506
VAR_021506 disease not phenotype-associated
VAR_021507 commonName VAR_021507
VAR_021507 disease not phenotype-associated
VAR_021508 commonName VAR_021508
VAR_021508 disease not phenotype-associated
VAR_021509 commonName VAR_021509
VAR_021509 disease not phenotype-associated
VAR_021510 commonName VAR_021510
VAR_021510 disease not phenotype-associated
VAR_021511 commonName VAR_021511
VAR_021511 disease not phenotype-associated
VAR_021512 commonName VAR_021512
VAR_021512 disease phenotype-associated
VAR_021512 phenoCommon Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]
VAR_021514 commonName VAR_021514
VAR_021514 disease not phenotype-associated
VAR_021515 commonName VAR_021515
VAR_021515 disease not phenotype-associated
VAR_021516 commonName VAR_021516
VAR_021516 disease not phenotype-associated
VAR_021518 commonName VAR_021518
VAR_021518 disease not phenotype-associated
VAR_021519 commonName VAR_021519
VAR_021519 disease not phenotype-associated
VAR_021520 commonName VAR_021520
VAR_021520 disease not phenotype-associated
VAR_021522 commonName VAR_021522
VAR_021522 disease not phenotype-associated
VAR_021523 commonName VAR_021523
VAR_021523 disease not phenotype-associated
VAR_021524 commonName VAR_021524
VAR_021524 disease phenotype-associated
VAR_021524 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]
VAR_021525 commonName VAR_021525
VAR_021525 disease phenotype-associated
VAR_021525 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]
VAR_021526 commonName VAR_021526
VAR_021526 disease phenotype-associated
VAR_021526 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]
VAR_021527 commonName VAR_021527
VAR_021527 disease not phenotype-associated
VAR_021529 commonName VAR_021529
VAR_021529 disease not phenotype-associated
VAR_021530 commonName VAR_021530
VAR_021530 disease not phenotype-associated
VAR_021531 commonName VAR_021531
VAR_021531 disease not phenotype-associated
VAR_021532 commonName VAR_021532
VAR_021532 disease not phenotype-associated
VAR_021533 commonName VAR_021533
VAR_021533 disease not phenotype-associated
VAR_021534 commonName VAR_021534
VAR_021534 disease phenotype-associated
VAR_021534 phenoCommon Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]
VAR_021535 commonName VAR_021535
VAR_021535 disease not phenotype-associated
VAR_021536 commonName VAR_021536
VAR_021536 disease not phenotype-associated
VAR_021537 commonName VAR_021537
VAR_021537 disease phenotype-associated
VAR_021537 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
VAR_021538 commonName VAR_021538
VAR_021538 disease phenotype-associated
VAR_021538 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
VAR_021539 commonName VAR_021539
VAR_021539 disease not phenotype-associated
VAR_021540 commonName VAR_021540
VAR_021540 disease phenotype-associated
VAR_021540 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
VAR_021541 commonName VAR_021541
VAR_021541 disease not phenotype-associated
VAR_021542 commonName VAR_021542
VAR_021543 commonName VAR_021543
VAR_021543 disease not phenotype-associated
VAR_021544 commonName VAR_021544
VAR_021544 disease not phenotype-associated
VAR_021545 commonName VAR_021545
VAR_021545 disease not phenotype-associated
VAR_021546 commonName VAR_021546
VAR_021546 disease phenotype-associated
VAR_021546 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
VAR_021548 commonName VAR_021548
VAR_021548 disease not phenotype-associated
VAR_021549 commonName VAR_021549
VAR_021549 disease phenotype-associated
VAR_021549 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_021550 commonName VAR_021550
VAR_021550 disease phenotype-associated
VAR_021550 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_021551 commonName VAR_021551
VAR_021551 disease phenotype-associated
VAR_021551 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_021552 commonName VAR_021552
VAR_021552 disease phenotype-associated
VAR_021552 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_021554 commonName VAR_021554
VAR_021554 disease phenotype-associated
VAR_021554 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_021555 commonName VAR_021555
VAR_021555 disease not phenotype-associated
VAR_021556 commonName VAR_021556
VAR_021556 disease not phenotype-associated
VAR_021557 commonName VAR_021557
VAR_021557 disease not phenotype-associated
VAR_021558 commonName VAR_021558
VAR_021558 disease not phenotype-associated
VAR_021559 commonName VAR_021559
VAR_021559 disease not phenotype-associated
VAR_021560 commonName VAR_021560
VAR_021560 disease not phenotype-associated
VAR_021561 commonName VAR_021561
VAR_021561 disease not phenotype-associated
VAR_021564 commonName VAR_021564
VAR_021564 disease not phenotype-associated
VAR_021565 commonName VAR_021565
VAR_021565 disease not phenotype-associated
VAR_021566 commonName VAR_021566
VAR_021566 disease not phenotype-associated
VAR_021567 commonName VAR_021567
VAR_021567 disease not phenotype-associated
VAR_021568 commonName VAR_021568
VAR_021568 disease not phenotype-associated
VAR_021569 commonName VAR_021569
VAR_021569 disease phenotype-associated
VAR_021569 phenoCommon Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]
VAR_021569 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
VAR_021570 commonName VAR_021570
VAR_021570 disease phenotype-associated
VAR_021570 phenoCommon Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]
VAR_021571 commonName VAR_021571
VAR_021571 disease phenotype-associated
VAR_021571 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
VAR_021572 commonName VAR_021572
VAR_021572 disease phenotype-associated
VAR_021572 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
VAR_021573 commonName VAR_021573
VAR_021573 disease phenotype-associated
VAR_021573 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200]
VAR_021574 commonName VAR_021574
VAR_021574 disease not phenotype-associated
VAR_021575 commonName VAR_021575
VAR_021575 disease not phenotype-associated
VAR_021576 commonName VAR_021576
VAR_021576 disease not phenotype-associated
VAR_021577 commonName VAR_021577
VAR_021577 disease not phenotype-associated
VAR_021578 commonName VAR_021578
VAR_021578 disease not phenotype-associated
VAR_021579 commonName VAR_021579
VAR_021579 disease phenotype-associated
VAR_021579 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021581 commonName VAR_021581
VAR_021581 disease phenotype-associated
VAR_021581 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021582 commonName VAR_021582
VAR_021582 disease phenotype-associated
VAR_021582 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021583 commonName VAR_021583
VAR_021583 disease phenotype-associated
VAR_021583 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021584 commonName VAR_021584
VAR_021584 disease phenotype-associated
VAR_021584 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021585 commonName VAR_021585
VAR_021585 disease phenotype-associated
VAR_021585 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021586 commonName VAR_021586
VAR_021586 disease phenotype-associated
VAR_021586 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_021587 commonName VAR_021587
VAR_021587 disease not phenotype-associated
VAR_021588 commonName VAR_021588
VAR_021588 disease not phenotype-associated
VAR_021590 commonName VAR_021590
VAR_021590 disease not phenotype-associated
VAR_021591 commonName VAR_021591
VAR_021591 disease not phenotype-associated
VAR_021592 commonName VAR_021592
VAR_021592 disease not phenotype-associated
VAR_021593 commonName VAR_021593
VAR_021593 disease not phenotype-associated
VAR_021594 commonName VAR_021594
VAR_021594 disease not phenotype-associated
VAR_021595 commonName VAR_021595
VAR_021595 disease not phenotype-associated
VAR_021596 commonName VAR_021596
VAR_021596 disease not phenotype-associated
VAR_021597 commonName VAR_021597
VAR_021597 disease not phenotype-associated
VAR_021598 commonName VAR_021598
VAR_021598 disease phenotype-associated
VAR_021598 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021599 commonName VAR_021599
VAR_021599 disease phenotype-associated
VAR_021599 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021600 commonName VAR_021600
VAR_021600 disease phenotype-associated
VAR_021600 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021601 commonName VAR_021601
VAR_021601 disease phenotype-associated
VAR_021601 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021602 commonName VAR_021602
VAR_021602 disease phenotype-associated
VAR_021602 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021603 commonName VAR_021603
VAR_021603 disease phenotype-associated
VAR_021603 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021604 commonName VAR_021604
VAR_021604 disease phenotype-associated
VAR_021604 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021605 commonName VAR_021605
VAR_021605 disease phenotype-associated
VAR_021605 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021606 commonName VAR_021606
VAR_021606 disease phenotype-associated
VAR_021606 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021607 commonName VAR_021607
VAR_021607 disease phenotype-associated
VAR_021607 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021608 commonName VAR_021608
VAR_021608 disease phenotype-associated
VAR_021608 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_021609 commonName VAR_021609
VAR_021609 disease phenotype-associated
VAR_021609 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_021610 commonName VAR_021610
VAR_021610 disease phenotype-associated
VAR_021610 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_021611 commonName VAR_021611
VAR_021611 disease phenotype-associated
VAR_021611 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_021612 commonName VAR_021612
VAR_021612 disease phenotype-associated
VAR_021612 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_021613 commonName VAR_021613
VAR_021613 disease phenotype-associated
VAR_021613 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]
VAR_021614 commonName VAR_021614
VAR_021614 disease phenotype-associated
VAR_021614 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]
VAR_021614 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]
VAR_021615 commonName VAR_021615
VAR_021615 disease phenotype-associated
VAR_021615 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021616 commonName VAR_021616
VAR_021616 disease phenotype-associated
VAR_021616 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021617 commonName VAR_021617
VAR_021617 disease phenotype-associated
VAR_021617 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021618 commonName VAR_021618
VAR_021618 disease phenotype-associated
VAR_021618 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021619 commonName VAR_021619
VAR_021619 disease phenotype-associated
VAR_021619 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021621 commonName VAR_021621
VAR_021621 disease phenotype-associated
VAR_021621 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_021622 commonName VAR_021622
VAR_021622 disease phenotype-associated
VAR_021622 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021623 commonName VAR_021623
VAR_021623 disease phenotype-associated
VAR_021623 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021624 commonName VAR_021624
VAR_021624 disease phenotype-associated
VAR_021624 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021625 commonName VAR_021625
VAR_021625 disease phenotype-associated
VAR_021625 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021626 commonName VAR_021626
VAR_021626 disease phenotype-associated
VAR_021626 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021627 commonName VAR_021627
VAR_021627 disease phenotype-associated
VAR_021627 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021628 commonName VAR_021628
VAR_021628 disease phenotype-associated
VAR_021628 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021629 commonName VAR_021629
VAR_021629 disease phenotype-associated
VAR_021629 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021630 commonName VAR_021630
VAR_021630 disease phenotype-associated
VAR_021630 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021631 commonName VAR_021631
VAR_021631 disease phenotype-associated
VAR_021631 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021632 commonName VAR_021632
VAR_021632 disease phenotype-associated
VAR_021632 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021633 commonName VAR_021633
VAR_021633 disease phenotype-associated
VAR_021633 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021634 commonName VAR_021634
VAR_021634 disease phenotype-associated
VAR_021634 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021635 commonName VAR_021635
VAR_021635 disease phenotype-associated
VAR_021635 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021636 commonName VAR_021636
VAR_021636 disease phenotype-associated
VAR_021636 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021637 commonName VAR_021637
VAR_021637 disease phenotype-associated
VAR_021637 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_021638 commonName VAR_021638
VAR_021639 commonName VAR_021639
VAR_021639 disease phenotype-associated
VAR_021639 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021639 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021640 commonName VAR_021640
VAR_021640 disease phenotype-associated
VAR_021640 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021641 commonName VAR_021641
VAR_021641 disease phenotype-associated
VAR_021641 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021642 commonName VAR_021642
VAR_021642 disease phenotype-associated
VAR_021642 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021643 commonName VAR_021643
VAR_021643 disease phenotype-associated
VAR_021643 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021644 commonName VAR_021644
VAR_021645 commonName VAR_021645
VAR_021645 disease phenotype-associated
VAR_021645 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021646 commonName VAR_021646
VAR_021646 disease phenotype-associated
VAR_021646 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021647 commonName VAR_021647
VAR_021647 disease phenotype-associated
VAR_021647 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021647 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021648 commonName VAR_021648
VAR_021648 disease phenotype-associated
VAR_021648 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021649 commonName VAR_021649
VAR_021649 disease phenotype-associated
VAR_021649 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021650 commonName VAR_021650
VAR_021650 disease phenotype-associated
VAR_021650 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021651 commonName VAR_021651
VAR_021651 disease phenotype-associated
VAR_021651 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021652 commonName VAR_021652
VAR_021652 disease phenotype-associated
VAR_021652 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021653 commonName VAR_021653
VAR_021653 disease phenotype-associated
VAR_021653 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021653 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021654 commonName VAR_021654
VAR_021654 disease phenotype-associated
VAR_021654 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021655 commonName VAR_021655
VAR_021655 disease phenotype-associated
VAR_021655 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021656 commonName VAR_021656
VAR_021656 disease phenotype-associated
VAR_021656 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021656 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021657 commonName VAR_021657
VAR_021657 disease phenotype-associated
VAR_021657 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021658 commonName VAR_021658
VAR_021658 disease phenotype-associated
VAR_021658 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021659 commonName VAR_021659
VAR_021659 disease phenotype-associated
VAR_021659 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021660 commonName VAR_021660
VAR_021660 disease phenotype-associated
VAR_021660 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021661 commonName VAR_021661
VAR_021661 disease phenotype-associated
VAR_021661 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021661 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021662 commonName VAR_021662
VAR_021662 disease phenotype-associated
VAR_021662 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021663 commonName VAR_021663
VAR_021665 commonName VAR_021665
VAR_021665 disease phenotype-associated
VAR_021665 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021665 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021666 commonName VAR_021666
VAR_021666 disease phenotype-associated
VAR_021666 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021667 commonName VAR_021667
VAR_021667 disease phenotype-associated
VAR_021667 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021668 commonName VAR_021668
VAR_021668 disease phenotype-associated
VAR_021668 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021669 commonName VAR_021669
VAR_021669 disease phenotype-associated
VAR_021669 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021670 commonName VAR_021670
VAR_021670 disease phenotype-associated
VAR_021670 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021671 commonName VAR_021671
VAR_021671 disease phenotype-associated
VAR_021671 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021672 commonName VAR_021672
VAR_021672 disease phenotype-associated
VAR_021672 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021673 commonName VAR_021673
VAR_021673 disease phenotype-associated
VAR_021673 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021674 commonName VAR_021674
VAR_021674 disease phenotype-associated
VAR_021674 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021675 commonName VAR_021675
VAR_021675 disease not phenotype-associated
VAR_021676 commonName VAR_021676
VAR_021676 disease phenotype-associated
VAR_021676 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021677 commonName VAR_021677
VAR_021677 disease phenotype-associated
VAR_021677 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021678 commonName VAR_021678
VAR_021678 disease phenotype-associated
VAR_021678 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_021679 commonName VAR_021679
VAR_021680 commonName VAR_021680
VAR_021680 disease phenotype-associated
VAR_021680 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021681 commonName VAR_021681
VAR_021681 disease phenotype-associated
VAR_021681 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_021683 commonName VAR_021683
VAR_021683 disease phenotype-associated
VAR_021683 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021684 commonName VAR_021684
VAR_021684 disease phenotype-associated
VAR_021684 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021685 commonName VAR_021685
VAR_021685 disease phenotype-associated
VAR_021685 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021686 commonName VAR_021686
VAR_021686 disease phenotype-associated
VAR_021686 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021687 commonName VAR_021687
VAR_021687 disease phenotype-associated
VAR_021687 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021688 commonName VAR_021688
VAR_021688 disease phenotype-associated
VAR_021688 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021689 commonName VAR_021689
VAR_021689 disease phenotype-associated
VAR_021689 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021690 commonName VAR_021690
VAR_021690 disease phenotype-associated
VAR_021690 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021691 commonName VAR_021691
VAR_021691 disease phenotype-associated
VAR_021691 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021692 commonName VAR_021692
VAR_021692 disease phenotype-associated
VAR_021692 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021693 commonName VAR_021693
VAR_021693 disease phenotype-associated
VAR_021693 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021694 commonName VAR_021694
VAR_021694 disease phenotype-associated
VAR_021694 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021695 commonName VAR_021695
VAR_021695 disease phenotype-associated
VAR_021695 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021696 commonName VAR_021696
VAR_021696 disease phenotype-associated
VAR_021696 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021697 commonName VAR_021697
VAR_021697 disease phenotype-associated
VAR_021697 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021699 commonName VAR_021699
VAR_021699 disease phenotype-associated
VAR_021699 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021700 commonName VAR_021700
VAR_021700 disease phenotype-associated
VAR_021700 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021701 commonName VAR_021701
VAR_021701 disease phenotype-associated
VAR_021701 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021702 commonName VAR_021702
VAR_021702 disease phenotype-associated
VAR_021702 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021703 commonName VAR_021703
VAR_021703 disease phenotype-associated
VAR_021703 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021704 commonName VAR_021704
VAR_021704 disease phenotype-associated
VAR_021704 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021705 commonName VAR_021705
VAR_021705 disease phenotype-associated
VAR_021705 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021706 commonName VAR_021706
VAR_021706 disease phenotype-associated
VAR_021706 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021707 commonName VAR_021707
VAR_021707 disease phenotype-associated
VAR_021707 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021708 commonName VAR_021708
VAR_021708 disease phenotype-associated
VAR_021708 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021709 commonName VAR_021709
VAR_021709 disease phenotype-associated
VAR_021709 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021710 commonName VAR_021710
VAR_021710 disease phenotype-associated
VAR_021710 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021711 commonName VAR_021711
VAR_021711 disease phenotype-associated
VAR_021711 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021712 commonName VAR_021712
VAR_021712 disease phenotype-associated
VAR_021712 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021713 commonName VAR_021713
VAR_021713 disease phenotype-associated
VAR_021713 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021714 commonName VAR_021714
VAR_021714 disease phenotype-associated
VAR_021714 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021715 commonName VAR_021715
VAR_021715 disease phenotype-associated
VAR_021715 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021716 commonName VAR_021716
VAR_021716 disease phenotype-associated
VAR_021716 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021717 commonName VAR_021717
VAR_021717 disease phenotype-associated
VAR_021717 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021718 commonName VAR_021718
VAR_021718 disease phenotype-associated
VAR_021718 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021719 commonName VAR_021719
VAR_021719 disease phenotype-associated
VAR_021719 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021720 commonName VAR_021720
VAR_021720 disease phenotype-associated
VAR_021720 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021721 commonName VAR_021721
VAR_021721 disease phenotype-associated
VAR_021721 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021722 commonName VAR_021722
VAR_021722 disease phenotype-associated
VAR_021722 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021723 commonName VAR_021723
VAR_021723 disease phenotype-associated
VAR_021723 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021724 commonName VAR_021724
VAR_021724 disease phenotype-associated
VAR_021724 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021725 commonName VAR_021725
VAR_021725 disease phenotype-associated
VAR_021725 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021726 commonName VAR_021726
VAR_021726 disease phenotype-associated
VAR_021726 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021727 commonName VAR_021727
VAR_021727 disease phenotype-associated
VAR_021727 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021728 commonName VAR_021728
VAR_021728 disease phenotype-associated
VAR_021728 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]
VAR_021730 commonName VAR_021730
VAR_021730 disease phenotype-associated
VAR_021730 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021731 commonName VAR_021731
VAR_021731 disease phenotype-associated
VAR_021731 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021732 commonName VAR_021732
VAR_021732 disease phenotype-associated
VAR_021732 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021733 commonName VAR_021733
VAR_021733 disease phenotype-associated
VAR_021733 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021734 commonName VAR_021734
VAR_021734 disease phenotype-associated
VAR_021734 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021735 commonName VAR_021735
VAR_021735 disease phenotype-associated
VAR_021735 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021736 commonName VAR_021736
VAR_021736 disease phenotype-associated
VAR_021736 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021737 commonName VAR_021737
VAR_021737 disease phenotype-associated
VAR_021737 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021738 commonName VAR_021738
VAR_021738 disease phenotype-associated
VAR_021738 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021739 commonName VAR_021739
VAR_021740 commonName VAR_021740
VAR_021740 disease phenotype-associated
VAR_021740 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021741 commonName VAR_021741
VAR_021741 disease phenotype-associated
VAR_021741 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021742 commonName VAR_021742
VAR_021742 disease not phenotype-associated
VAR_021743 commonName VAR_021743
VAR_021743 disease phenotype-associated
VAR_021743 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021744 commonName VAR_021744
VAR_021744 disease phenotype-associated
VAR_021744 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021745 commonName VAR_021745
VAR_021745 disease phenotype-associated
VAR_021745 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021746 commonName VAR_021746
VAR_021746 disease phenotype-associated
VAR_021746 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021747 commonName VAR_021747
VAR_021747 disease phenotype-associated
VAR_021747 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021748 commonName VAR_021748
VAR_021748 disease phenotype-associated
VAR_021748 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021749 commonName VAR_021749
VAR_021749 disease phenotype-associated
VAR_021749 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021750 commonName VAR_021750
VAR_021750 disease phenotype-associated
VAR_021750 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021751 commonName VAR_021751
VAR_021751 disease phenotype-associated
VAR_021751 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021752 commonName VAR_021752
VAR_021752 disease phenotype-associated
VAR_021752 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021753 commonName VAR_021753
VAR_021753 disease phenotype-associated
VAR_021753 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021754 commonName VAR_021754
VAR_021754 disease phenotype-associated
VAR_021754 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021755 commonName VAR_021755
VAR_021755 disease phenotype-associated
VAR_021755 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021756 commonName VAR_021756
VAR_021756 disease phenotype-associated
VAR_021756 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021757 commonName VAR_021757
VAR_021757 disease phenotype-associated
VAR_021757 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021758 commonName VAR_021758
VAR_021758 disease phenotype-associated
VAR_021758 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021759 commonName VAR_021759
VAR_021759 disease phenotype-associated
VAR_021759 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021760 commonName VAR_021760
VAR_021760 disease phenotype-associated
VAR_021760 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021762 commonName VAR_021762
VAR_021762 disease phenotype-associated
VAR_021762 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021763 commonName VAR_021763
VAR_021763 disease phenotype-associated
VAR_021763 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021764 commonName VAR_021764
VAR_021764 disease phenotype-associated
VAR_021764 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021765 commonName VAR_021765
VAR_021765 disease phenotype-associated
VAR_021765 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021766 commonName VAR_021766
VAR_021766 disease phenotype-associated
VAR_021766 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_021767 commonName VAR_021767
VAR_021767 disease phenotype-associated
VAR_021767 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_021768 commonName VAR_021768
VAR_021768 disease phenotype-associated
VAR_021768 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_021769 commonName VAR_021769
VAR_021769 disease phenotype-associated
VAR_021769 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_021770 commonName VAR_021770
VAR_021770 disease phenotype-associated
VAR_021770 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
VAR_021771 commonName VAR_021771
VAR_021771 disease phenotype-associated
VAR_021771 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021772 commonName VAR_021772
VAR_021772 disease phenotype-associated
VAR_021772 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021773 commonName VAR_021773
VAR_021773 disease phenotype-associated
VAR_021773 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021774 commonName VAR_021774
VAR_021774 disease phenotype-associated
VAR_021774 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021775 commonName VAR_021775
VAR_021775 disease phenotype-associated
VAR_021775 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021776 commonName VAR_021776
VAR_021776 disease phenotype-associated
VAR_021776 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021777 commonName VAR_021777
VAR_021777 disease phenotype-associated
VAR_021777 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021778 commonName VAR_021778
VAR_021778 disease phenotype-associated
VAR_021778 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021779 commonName VAR_021779
VAR_021779 disease phenotype-associated
VAR_021779 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021780 commonName VAR_021780
VAR_021780 disease phenotype-associated
VAR_021780 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021781 commonName VAR_021781
VAR_021781 disease phenotype-associated
VAR_021781 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021782 commonName VAR_021782
VAR_021782 disease phenotype-associated
VAR_021782 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021783 commonName VAR_021783
VAR_021783 disease phenotype-associated
VAR_021783 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737]
VAR_021784 commonName VAR_021784
VAR_021784 disease phenotype-associated
VAR_021784 phenoCommon Nonaka myopathy (NM) [MIM:605820]
VAR_021785 commonName VAR_021785
VAR_021785 disease phenotype-associated
VAR_021785 phenoCommon Mental retardation X-linked type 89 (MRX89) [MIM:300848]
VAR_021786 commonName VAR_021786
VAR_021786 disease not phenotype-associated
VAR_021787 commonName VAR_021787
VAR_021787 disease not phenotype-associated
VAR_021788 commonName VAR_021788
VAR_021788 disease phenotype-associated
VAR_021788 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1) [MIM:600462]
VAR_021789 commonName VAR_021789
VAR_021789 disease not phenotype-associated
VAR_021790 commonName VAR_021790
VAR_021790 disease phenotype-associated
VAR_021790 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021791 commonName VAR_021791
VAR_021791 disease phenotype-associated
VAR_021791 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021792 commonName VAR_021792
VAR_021792 disease phenotype-associated
VAR_021792 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021793 commonName VAR_021793
VAR_021793 disease phenotype-associated
VAR_021793 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021794 commonName VAR_021794
VAR_021794 disease phenotype-associated
VAR_021794 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021795 commonName VAR_021795
VAR_021795 disease phenotype-associated
VAR_021795 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021796 commonName VAR_021796
VAR_021796 disease phenotype-associated
VAR_021796 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021797 commonName VAR_021797
VAR_021797 disease phenotype-associated
VAR_021797 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021798 commonName VAR_021798
VAR_021798 disease phenotype-associated
VAR_021798 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021799 commonName VAR_021799
VAR_021799 disease phenotype-associated
VAR_021799 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021800 commonName VAR_021800
VAR_021800 disease phenotype-associated
VAR_021800 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021801 commonName VAR_021801
VAR_021801 disease phenotype-associated
VAR_021801 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021802 commonName VAR_021802
VAR_021802 disease phenotype-associated
VAR_021802 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_021806 commonName VAR_021806
VAR_021806 disease not phenotype-associated
VAR_021807 commonName VAR_021807
VAR_021807 disease phenotype-associated
VAR_021807 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]
VAR_021808 commonName VAR_021808
VAR_021808 disease phenotype-associated
VAR_021808 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]
VAR_021809 commonName VAR_021809
VAR_021809 disease phenotype-associated
VAR_021809 phenoCommon High bone mass trait (HBM) [MIM:601884]
VAR_021810 commonName VAR_021810
VAR_021810 disease phenotype-associated
VAR_021810 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750]
VAR_021811 commonName VAR_021811
VAR_021811 disease phenotype-associated
VAR_021811 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750]
VAR_021812 commonName VAR_021812
VAR_021812 disease phenotype-associated
VAR_021812 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750]
VAR_021812 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]
VAR_021812 phenoCommon Van Buchem disease type 2 (VBCH2) [MIM:607636]
VAR_021813 commonName VAR_021813
VAR_021813 disease phenotype-associated
VAR_021813 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]
VAR_021814 commonName VAR_021814
VAR_021814 disease phenotype-associated
VAR_021814 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_021815 commonName VAR_021815
VAR_021815 disease phenotype-associated
VAR_021815 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_021816 commonName VAR_021816
VAR_021816 disease not phenotype-associated
VAR_021818 commonName VAR_021818
VAR_021818 disease phenotype-associated
VAR_021818 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]
VAR_021819 commonName VAR_021819
VAR_021819 disease phenotype-associated
VAR_021819 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]
VAR_021820 commonName VAR_021820
VAR_021820 disease phenotype-associated
VAR_021820 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]
VAR_021821 commonName VAR_021821
VAR_021821 disease phenotype-associated
VAR_021821 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_021822 commonName VAR_021822
VAR_021822 disease phenotype-associated
VAR_021822 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_021823 commonName VAR_021823
VAR_021823 disease phenotype-associated
VAR_021823 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_021824 commonName VAR_021824
VAR_021824 disease phenotype-associated
VAR_021824 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]
VAR_021825 commonName VAR_021825
VAR_021825 disease phenotype-associated
VAR_021825 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_021826 commonName VAR_021826
VAR_021826 disease phenotype-associated
VAR_021826 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]
VAR_021827 commonName VAR_021827
VAR_021827 disease not phenotype-associated
VAR_021828 commonName VAR_021828
VAR_021828 disease not phenotype-associated
VAR_021829 commonName VAR_021829
VAR_021829 disease phenotype-associated
VAR_021829 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_021830 commonName VAR_021830
VAR_021830 disease phenotype-associated
VAR_021830 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_021831 commonName VAR_021831
VAR_021831 disease phenotype-associated
VAR_021831 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_021832 commonName VAR_021832
VAR_021832 disease phenotype-associated
VAR_021832 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
VAR_021833 commonName VAR_021833
VAR_021833 disease not phenotype-associated
VAR_021834 commonName VAR_021834
VAR_021834 disease not phenotype-associated
VAR_021835 commonName VAR_021835
VAR_021835 disease not phenotype-associated
VAR_021837 commonName VAR_021837
VAR_021837 disease not phenotype-associated
VAR_021838 commonName VAR_021838
VAR_021838 disease not phenotype-associated
VAR_021839 commonName VAR_021839
VAR_021839 disease not phenotype-associated
VAR_021840 commonName VAR_021840
VAR_021840 disease not phenotype-associated
VAR_021841 commonName VAR_021841
VAR_021841 disease not phenotype-associated
VAR_021842 commonName VAR_021842
VAR_021842 disease not phenotype-associated
VAR_021843 commonName VAR_021843
VAR_021843 disease not phenotype-associated
VAR_021844 commonName VAR_021844
VAR_021844 disease not phenotype-associated
VAR_021845 commonName VAR_021845
VAR_021845 disease not phenotype-associated
VAR_021846 commonName VAR_021846
VAR_021846 disease not phenotype-associated
VAR_021847 commonName VAR_021847
VAR_021847 disease not phenotype-associated
VAR_021849 commonName VAR_021849
VAR_021849 disease not phenotype-associated
VAR_021850 commonName VAR_021850
VAR_021850 disease not phenotype-associated
VAR_021851 commonName VAR_021851
VAR_021851 disease not phenotype-associated
VAR_021852 commonName VAR_021852
VAR_021852 disease not phenotype-associated
VAR_021853 commonName VAR_021853
VAR_021853 disease not phenotype-associated
VAR_021854 commonName VAR_021854
VAR_021854 disease not phenotype-associated
VAR_021855 commonName VAR_021855
VAR_021855 disease not phenotype-associated
VAR_021856 commonName VAR_021856
VAR_021856 disease not phenotype-associated
VAR_021857 commonName VAR_021857
VAR_021857 disease not phenotype-associated
VAR_021858 commonName VAR_021858
VAR_021858 disease not phenotype-associated
VAR_021859 commonName VAR_021859
VAR_021859 disease not phenotype-associated
VAR_021860 commonName VAR_021860
VAR_021860 disease not phenotype-associated
VAR_021861 commonName VAR_021861
VAR_021861 disease not phenotype-associated
VAR_021862 commonName VAR_021862
VAR_021862 disease not phenotype-associated
VAR_021864 commonName VAR_021864
VAR_021864 disease not phenotype-associated
VAR_021865 commonName VAR_021865
VAR_021865 disease not phenotype-associated
VAR_021866 commonName VAR_021866
VAR_021866 disease not phenotype-associated
VAR_021867 commonName VAR_021867
VAR_021867 disease not phenotype-associated
VAR_021868 commonName VAR_021868
VAR_021868 disease not phenotype-associated
VAR_021869 commonName VAR_021869
VAR_021869 disease not phenotype-associated
VAR_021870 commonName VAR_021870
VAR_021870 disease not phenotype-associated
VAR_021871 commonName VAR_021871
VAR_021871 disease not phenotype-associated
VAR_021872 commonName VAR_021872
VAR_021872 disease not phenotype-associated
VAR_021873 commonName VAR_021873
VAR_021873 disease not phenotype-associated
VAR_021874 commonName VAR_021874
VAR_021874 disease not phenotype-associated
VAR_021875 commonName VAR_021875
VAR_021875 disease not phenotype-associated
VAR_021876 commonName VAR_021876
VAR_021876 disease not phenotype-associated
VAR_021877 commonName VAR_021877
VAR_021877 disease not phenotype-associated
VAR_021878 commonName VAR_021878
VAR_021878 disease not phenotype-associated
VAR_021879 commonName VAR_021879
VAR_021879 disease not phenotype-associated
VAR_021880 commonName VAR_021880
VAR_021880 disease not phenotype-associated
VAR_021881 commonName VAR_021881
VAR_021881 disease not phenotype-associated
VAR_021882 commonName VAR_021882
VAR_021882 disease not phenotype-associated
VAR_021883 commonName VAR_021883
VAR_021883 disease not phenotype-associated
VAR_021884 commonName VAR_021884
VAR_021884 disease not phenotype-associated
VAR_021885 commonName VAR_021885
VAR_021885 disease not phenotype-associated
VAR_021886 commonName VAR_021886
VAR_021886 disease not phenotype-associated
VAR_021887 commonName VAR_021887
VAR_021887 disease not phenotype-associated
VAR_021888 commonName VAR_021888
VAR_021888 disease not phenotype-associated
VAR_021889 commonName VAR_021889
VAR_021889 disease not phenotype-associated
VAR_021891 commonName VAR_021891
VAR_021891 disease not phenotype-associated
VAR_021892 commonName VAR_021892
VAR_021892 disease not phenotype-associated
VAR_021893 commonName VAR_021893
VAR_021893 disease not phenotype-associated
VAR_021894 commonName VAR_021894
VAR_021894 disease not phenotype-associated
VAR_021895 commonName VAR_021895
VAR_021895 disease not phenotype-associated
VAR_021896 commonName VAR_021896
VAR_021896 disease not phenotype-associated
VAR_021897 commonName VAR_021897
VAR_021897 disease not phenotype-associated
VAR_021898 commonName VAR_021898
VAR_021898 disease not phenotype-associated
VAR_021901 commonName VAR_021901
VAR_021901 disease not phenotype-associated
VAR_021902 commonName VAR_021902
VAR_021902 disease not phenotype-associated
VAR_021903 commonName VAR_021903
VAR_021903 disease not phenotype-associated
VAR_021904 commonName VAR_021904
VAR_021904 disease not phenotype-associated
VAR_021905 commonName VAR_021905
VAR_021905 disease not phenotype-associated
VAR_021906 commonName VAR_021906
VAR_021906 disease not phenotype-associated
VAR_021907 commonName VAR_021907
VAR_021907 disease not phenotype-associated
VAR_021909 commonName VAR_021909
VAR_021909 disease not phenotype-associated
VAR_021910 commonName VAR_021910
VAR_021910 disease not phenotype-associated
VAR_021911 commonName VAR_021911
VAR_021911 disease not phenotype-associated
VAR_021913 commonName VAR_021913
VAR_021913 disease not phenotype-associated
VAR_021915 commonName VAR_021915
VAR_021915 disease not phenotype-associated
VAR_021916 commonName VAR_021916
VAR_021916 disease not phenotype-associated
VAR_021918 commonName VAR_021918
VAR_021918 disease not phenotype-associated
VAR_021919 commonName VAR_021919
VAR_021919 disease not phenotype-associated
VAR_021920 commonName VAR_021920
VAR_021920 disease not phenotype-associated
VAR_021921 commonName VAR_021921
VAR_021921 disease not phenotype-associated
VAR_021922 commonName VAR_021922
VAR_021922 disease not phenotype-associated
VAR_021923 commonName VAR_021923
VAR_021923 disease not phenotype-associated
VAR_021924 commonName VAR_021924
VAR_021924 disease not phenotype-associated
VAR_021925 commonName VAR_021925
VAR_021925 disease not phenotype-associated
VAR_021926 commonName VAR_021926
VAR_021926 disease not phenotype-associated
VAR_021927 commonName VAR_021927
VAR_021927 disease not phenotype-associated
VAR_021928 commonName VAR_021928
VAR_021928 disease not phenotype-associated
VAR_021930 commonName VAR_021930
VAR_021930 disease not phenotype-associated
VAR_021931 commonName VAR_021931
VAR_021931 disease not phenotype-associated
VAR_021933 commonName VAR_021933
VAR_021933 disease not phenotype-associated
VAR_021934 commonName VAR_021934
VAR_021934 disease not phenotype-associated
VAR_021935 commonName VAR_021935
VAR_021935 disease not phenotype-associated
VAR_021936 commonName VAR_021936
VAR_021936 disease not phenotype-associated
VAR_021937 commonName VAR_021937
VAR_021937 disease not phenotype-associated
VAR_021939 commonName VAR_021939
VAR_021939 disease not phenotype-associated
VAR_021940 commonName VAR_021940
VAR_021940 disease not phenotype-associated
VAR_021941 commonName VAR_021941
VAR_021941 disease not phenotype-associated
VAR_021942 commonName VAR_021942
VAR_021942 disease not phenotype-associated
VAR_021943 commonName VAR_021943
VAR_021943 disease not phenotype-associated
VAR_021944 commonName VAR_021944
VAR_021944 disease not phenotype-associated
VAR_021945 commonName VAR_021945
VAR_021945 disease not phenotype-associated
VAR_021946 commonName VAR_021946
VAR_021946 disease not phenotype-associated
VAR_021947 commonName VAR_021947
VAR_021947 disease not phenotype-associated
VAR_021948 commonName VAR_021948
VAR_021948 disease not phenotype-associated
VAR_021949 commonName VAR_021949
VAR_021949 disease not phenotype-associated
VAR_021951 commonName VAR_021951
VAR_021951 disease not phenotype-associated
VAR_021952 commonName VAR_021952
VAR_021952 disease not phenotype-associated
VAR_021953 commonName VAR_021953
VAR_021953 disease not phenotype-associated
VAR_021955 commonName VAR_021955
VAR_021955 disease not phenotype-associated
VAR_021956 commonName VAR_021956
VAR_021956 disease not phenotype-associated
VAR_021958 commonName VAR_021958
VAR_021958 disease not phenotype-associated
VAR_021959 commonName VAR_021959
VAR_021959 disease not phenotype-associated
VAR_021962 commonName VAR_021962
VAR_021962 disease not phenotype-associated
VAR_021963 commonName VAR_021963
VAR_021963 disease not phenotype-associated
VAR_021964 commonName VAR_021964
VAR_021964 disease not phenotype-associated
VAR_021965 commonName VAR_021965
VAR_021965 disease not phenotype-associated
VAR_021966 commonName VAR_021966
VAR_021966 disease not phenotype-associated
VAR_021967 commonName VAR_021967
VAR_021967 disease not phenotype-associated
VAR_021969 commonName VAR_021969
VAR_021969 disease not phenotype-associated
VAR_021971 commonName VAR_021971
VAR_021971 disease not phenotype-associated
VAR_021973 commonName VAR_021973
VAR_021973 disease not phenotype-associated
VAR_021974 commonName VAR_021974
VAR_021974 disease not phenotype-associated
VAR_021975 commonName VAR_021975
VAR_021975 disease not phenotype-associated
VAR_021976 commonName VAR_021976
VAR_021976 disease not phenotype-associated
VAR_021977 commonName VAR_021977
VAR_021977 disease not phenotype-associated
VAR_021978 commonName VAR_021978
VAR_021978 disease not phenotype-associated
VAR_021979 commonName VAR_021979
VAR_021979 disease not phenotype-associated
VAR_021980 commonName VAR_021980
VAR_021980 disease not phenotype-associated
VAR_021981 commonName VAR_021981
VAR_021981 disease not phenotype-associated
VAR_021982 commonName VAR_021982
VAR_021982 disease not phenotype-associated
VAR_021983 commonName VAR_021983
VAR_021983 disease not phenotype-associated
VAR_021984 commonName VAR_021984
VAR_021984 disease not phenotype-associated
VAR_021985 commonName VAR_021985
VAR_021985 disease not phenotype-associated
VAR_021986 commonName VAR_021986
VAR_021986 disease not phenotype-associated
VAR_021987 commonName VAR_021987
VAR_021987 disease not phenotype-associated
VAR_021988 commonName VAR_021988
VAR_021988 disease not phenotype-associated
VAR_021989 commonName VAR_021989
VAR_021989 disease not phenotype-associated
VAR_021990 commonName VAR_021990
VAR_021990 disease not phenotype-associated
VAR_021991 commonName VAR_021991
VAR_021991 disease not phenotype-associated
VAR_021992 commonName VAR_021992
VAR_021992 disease not phenotype-associated
VAR_021993 commonName VAR_021993
VAR_021993 disease not phenotype-associated
VAR_021994 commonName VAR_021994
VAR_021994 disease not phenotype-associated
VAR_021996 commonName VAR_021996
VAR_021996 disease not phenotype-associated
VAR_021997 commonName VAR_021997
VAR_021997 disease not phenotype-associated
VAR_021998 commonName VAR_021998
VAR_021998 disease not phenotype-associated
VAR_022000 commonName VAR_022000
VAR_022000 disease not phenotype-associated
VAR_022001 commonName VAR_022001
VAR_022001 disease not phenotype-associated
VAR_022002 commonName VAR_022002
VAR_022002 disease not phenotype-associated
VAR_022003 commonName VAR_022003
VAR_022003 disease not phenotype-associated
VAR_022004 commonName VAR_022004
VAR_022004 disease not phenotype-associated
VAR_022005 commonName VAR_022005
VAR_022005 disease not phenotype-associated
VAR_022006 commonName VAR_022006
VAR_022006 disease not phenotype-associated
VAR_022007 commonName VAR_022007
VAR_022007 disease not phenotype-associated
VAR_022008 commonName VAR_022008
VAR_022008 disease not phenotype-associated
VAR_022009 commonName VAR_022009
VAR_022009 disease not phenotype-associated
VAR_022011 commonName VAR_022011
VAR_022011 disease not phenotype-associated
VAR_022015 commonName VAR_022015
VAR_022015 disease not phenotype-associated
VAR_022016 commonName VAR_022016
VAR_022016 disease not phenotype-associated
VAR_022017 commonName VAR_022017
VAR_022017 disease not phenotype-associated
VAR_022018 commonName VAR_022018
VAR_022018 disease not phenotype-associated
VAR_022019 commonName VAR_022019
VAR_022019 disease not phenotype-associated
VAR_022020 commonName VAR_022020
VAR_022020 disease not phenotype-associated
VAR_022021 commonName VAR_022021
VAR_022021 disease not phenotype-associated
VAR_022022 commonName VAR_022022
VAR_022022 disease not phenotype-associated
VAR_022023 commonName VAR_022023
VAR_022023 disease not phenotype-associated
VAR_022024 commonName VAR_022024
VAR_022024 disease not phenotype-associated
VAR_022026 commonName VAR_022026
VAR_022026 disease not phenotype-associated
VAR_022027 commonName VAR_022027
VAR_022027 disease not phenotype-associated
VAR_022028 commonName VAR_022028
VAR_022028 disease not phenotype-associated
VAR_022029 commonName VAR_022029
VAR_022029 disease not phenotype-associated
VAR_022030 commonName VAR_022030
VAR_022030 disease not phenotype-associated
VAR_022031 commonName VAR_022031
VAR_022031 disease not phenotype-associated
VAR_022032 commonName VAR_022032
VAR_022032 disease not phenotype-associated
VAR_022033 commonName VAR_022033
VAR_022033 disease not phenotype-associated
VAR_022034 commonName VAR_022034
VAR_022034 disease not phenotype-associated
VAR_022035 commonName VAR_022035
VAR_022035 disease not phenotype-associated
VAR_022039 commonName VAR_022039
VAR_022039 disease not phenotype-associated
VAR_022041 commonName VAR_022041
VAR_022041 disease not phenotype-associated
VAR_022042 commonName VAR_022042
VAR_022042 disease not phenotype-associated
VAR_022044 commonName VAR_022044
VAR_022044 disease not phenotype-associated
VAR_022045 commonName VAR_022045
VAR_022045 disease not phenotype-associated
VAR_022047 commonName VAR_022047
VAR_022047 disease not phenotype-associated
VAR_022048 commonName VAR_022048
VAR_022048 disease not phenotype-associated
VAR_022049 commonName VAR_022049
VAR_022049 disease not phenotype-associated
VAR_022050 commonName VAR_022050
VAR_022050 disease not phenotype-associated
VAR_022051 commonName VAR_022051
VAR_022051 disease not phenotype-associated
VAR_022052 commonName VAR_022052
VAR_022052 disease not phenotype-associated
VAR_022053 commonName VAR_022053
VAR_022053 disease not phenotype-associated
VAR_022054 commonName VAR_022054
VAR_022054 disease not phenotype-associated
VAR_022055 commonName VAR_022055
VAR_022055 disease not phenotype-associated
VAR_022056 commonName VAR_022056
VAR_022056 disease not phenotype-associated
VAR_022057 commonName VAR_022057
VAR_022057 disease not phenotype-associated
VAR_022058 commonName VAR_022058
VAR_022058 disease not phenotype-associated
VAR_022059 commonName VAR_022059
VAR_022059 disease not phenotype-associated
VAR_022060 commonName VAR_022060
VAR_022060 disease not phenotype-associated
VAR_022061 commonName VAR_022061
VAR_022061 disease not phenotype-associated
VAR_022062 commonName VAR_022062
VAR_022062 disease not phenotype-associated
VAR_022063 commonName VAR_022063
VAR_022063 disease not phenotype-associated
VAR_022064 commonName VAR_022064
VAR_022064 disease not phenotype-associated
VAR_022065 commonName VAR_022065
VAR_022065 disease not phenotype-associated
VAR_022066 commonName VAR_022066
VAR_022066 disease not phenotype-associated
VAR_022067 commonName VAR_022067
VAR_022067 disease not phenotype-associated
VAR_022068 commonName VAR_022068
VAR_022068 disease not phenotype-associated
VAR_022069 commonName VAR_022069
VAR_022069 disease not phenotype-associated
VAR_022071 commonName VAR_022071
VAR_022071 disease not phenotype-associated
VAR_022072 commonName VAR_022072
VAR_022072 disease not phenotype-associated
VAR_022073 commonName VAR_022073
VAR_022073 disease not phenotype-associated
VAR_022074 commonName VAR_022074
VAR_022074 disease not phenotype-associated
VAR_022075 commonName VAR_022075
VAR_022075 disease not phenotype-associated
VAR_022076 commonName VAR_022076
VAR_022076 disease not phenotype-associated
VAR_022077 commonName VAR_022077
VAR_022077 disease not phenotype-associated
VAR_022078 commonName VAR_022078
VAR_022078 disease not phenotype-associated
VAR_022079 commonName VAR_022079
VAR_022079 disease not phenotype-associated
VAR_022080 commonName VAR_022080
VAR_022080 disease not phenotype-associated
VAR_022081 commonName VAR_022081
VAR_022081 disease not phenotype-associated
VAR_022082 commonName VAR_022082
VAR_022082 disease not phenotype-associated
VAR_022083 commonName VAR_022083
VAR_022083 disease not phenotype-associated
VAR_022084 commonName VAR_022084
VAR_022084 disease not phenotype-associated
VAR_022085 commonName VAR_022085
VAR_022085 disease not phenotype-associated
VAR_022086 commonName VAR_022086
VAR_022086 disease not phenotype-associated
VAR_022088 commonName VAR_022088
VAR_022088 disease not phenotype-associated
VAR_022089 commonName VAR_022089
VAR_022089 disease not phenotype-associated
VAR_022090 commonName VAR_022090
VAR_022090 disease not phenotype-associated
VAR_022091 commonName VAR_022091
VAR_022091 disease not phenotype-associated
VAR_022092 commonName VAR_022092
VAR_022092 disease not phenotype-associated
VAR_022093 commonName VAR_022093
VAR_022093 disease not phenotype-associated
VAR_022094 commonName VAR_022094
VAR_022094 disease not phenotype-associated
VAR_022095 commonName VAR_022095
VAR_022095 disease not phenotype-associated
VAR_022096 commonName VAR_022096
VAR_022096 disease not phenotype-associated
VAR_022097 commonName VAR_022097
VAR_022097 disease not phenotype-associated
VAR_022098 commonName VAR_022098
VAR_022098 disease not phenotype-associated
VAR_022099 commonName VAR_022099
VAR_022099 disease not phenotype-associated
VAR_022100 commonName VAR_022100
VAR_022100 disease not phenotype-associated
VAR_022101 commonName VAR_022101
VAR_022101 disease not phenotype-associated
VAR_022102 commonName VAR_022102
VAR_022102 disease not phenotype-associated
VAR_022103 commonName VAR_022103
VAR_022103 disease not phenotype-associated
VAR_022104 commonName VAR_022104
VAR_022104 disease not phenotype-associated
VAR_022105 commonName VAR_022105
VAR_022105 disease not phenotype-associated
VAR_022106 commonName VAR_022106
VAR_022106 disease not phenotype-associated
VAR_022107 commonName VAR_022107
VAR_022107 disease not phenotype-associated
VAR_022108 commonName VAR_022108
VAR_022108 disease not phenotype-associated
VAR_022109 commonName VAR_022109
VAR_022109 disease not phenotype-associated
VAR_022110 commonName VAR_022110
VAR_022110 disease not phenotype-associated
VAR_022111 commonName VAR_022111
VAR_022111 disease not phenotype-associated
VAR_022112 commonName VAR_022112
VAR_022112 disease not phenotype-associated
VAR_022113 commonName VAR_022113
VAR_022113 disease not phenotype-associated
VAR_022114 commonName VAR_022114
VAR_022114 disease not phenotype-associated
VAR_022115 commonName VAR_022115
VAR_022115 disease not phenotype-associated
VAR_022116 commonName VAR_022116
VAR_022116 disease not phenotype-associated
VAR_022117 commonName VAR_022117
VAR_022117 disease not phenotype-associated
VAR_022118 commonName VAR_022118
VAR_022118 disease not phenotype-associated
VAR_022119 commonName VAR_022119
VAR_022119 disease not phenotype-associated
VAR_022120 commonName VAR_022120
VAR_022120 disease not phenotype-associated
VAR_022121 commonName VAR_022121
VAR_022121 disease not phenotype-associated
VAR_022122 commonName VAR_022122
VAR_022122 disease not phenotype-associated
VAR_022123 commonName VAR_022123
VAR_022123 disease not phenotype-associated
VAR_022124 commonName VAR_022124
VAR_022124 disease not phenotype-associated
VAR_022125 commonName VAR_022125
VAR_022125 disease not phenotype-associated
VAR_022126 commonName VAR_022126
VAR_022126 disease not phenotype-associated
VAR_022130 commonName VAR_022130
VAR_022130 disease not phenotype-associated
VAR_022133 commonName VAR_022133
VAR_022133 disease not phenotype-associated
VAR_022134 commonName VAR_022134
VAR_022134 disease not phenotype-associated
VAR_022135 commonName VAR_022135
VAR_022135 disease not phenotype-associated
VAR_022136 commonName VAR_022136
VAR_022136 disease not phenotype-associated
VAR_022137 commonName VAR_022137
VAR_022137 disease not phenotype-associated
VAR_022138 commonName VAR_022138
VAR_022138 disease not phenotype-associated
VAR_022139 commonName VAR_022139
VAR_022139 disease not phenotype-associated
VAR_022140 commonName VAR_022140
VAR_022140 disease not phenotype-associated
VAR_022141 commonName VAR_022141
VAR_022141 disease not phenotype-associated
VAR_022143 commonName VAR_022143
VAR_022143 disease not phenotype-associated
VAR_022144 commonName VAR_022144
VAR_022144 disease not phenotype-associated
VAR_022146 commonName VAR_022146
VAR_022146 disease not phenotype-associated
VAR_022147 commonName VAR_022147
VAR_022147 disease not phenotype-associated
VAR_022148 commonName VAR_022148
VAR_022148 disease not phenotype-associated
VAR_022149 commonName VAR_022149
VAR_022149 disease not phenotype-associated
VAR_022150 commonName VAR_022150
VAR_022150 disease not phenotype-associated
VAR_022152 commonName VAR_022152
VAR_022152 disease not phenotype-associated
VAR_022153 commonName VAR_022153
VAR_022153 disease not phenotype-associated
VAR_022154 commonName VAR_022154
VAR_022154 disease not phenotype-associated
VAR_022155 commonName VAR_022155
VAR_022155 disease not phenotype-associated
VAR_022156 commonName VAR_022156
VAR_022156 disease not phenotype-associated
VAR_022157 commonName VAR_022157
VAR_022157 disease not phenotype-associated
VAR_022158 commonName VAR_022158
VAR_022158 disease not phenotype-associated
VAR_022159 commonName VAR_022159
VAR_022159 disease not phenotype-associated
VAR_022160 commonName VAR_022160
VAR_022160 disease not phenotype-associated
VAR_022161 commonName VAR_022161
VAR_022161 disease not phenotype-associated
VAR_022162 commonName VAR_022162
VAR_022162 disease not phenotype-associated
VAR_022163 commonName VAR_022163
VAR_022163 disease not phenotype-associated
VAR_022164 commonName VAR_022164
VAR_022164 disease phenotype-associated
VAR_022164 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220]
VAR_022165 commonName VAR_022165
VAR_022165 disease phenotype-associated
VAR_022165 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220]
VAR_022166 commonName VAR_022166
VAR_022166 disease phenotype-associated
VAR_022166 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220]
VAR_022167 commonName VAR_022167
VAR_022167 disease not phenotype-associated
VAR_022168 commonName VAR_022168
VAR_022168 disease not phenotype-associated
VAR_022169 commonName VAR_022169
VAR_022169 disease not phenotype-associated
VAR_022170 commonName VAR_022170
VAR_022170 disease not phenotype-associated
VAR_022171 commonName VAR_022171
VAR_022171 disease not phenotype-associated
VAR_022172 commonName VAR_022172
VAR_022172 disease not phenotype-associated
VAR_022173 commonName VAR_022173
VAR_022173 disease not phenotype-associated
VAR_022174 commonName VAR_022174
VAR_022174 disease not phenotype-associated
VAR_022175 commonName VAR_022175
VAR_022175 disease not phenotype-associated
VAR_022176 commonName VAR_022176
VAR_022176 disease not phenotype-associated
VAR_022177 commonName VAR_022177
VAR_022177 disease not phenotype-associated
VAR_022178 commonName VAR_022178
VAR_022178 disease not phenotype-associated
VAR_022179 commonName VAR_022179
VAR_022179 disease not phenotype-associated
VAR_022180 commonName VAR_022180
VAR_022180 disease not phenotype-associated
VAR_022181 commonName VAR_022181
VAR_022181 disease not phenotype-associated
VAR_022182 commonName VAR_022182
VAR_022182 disease not phenotype-associated
VAR_022183 commonName VAR_022183
VAR_022183 disease not phenotype-associated
VAR_022184 commonName VAR_022184
VAR_022184 disease not phenotype-associated
VAR_022185 commonName VAR_022185
VAR_022185 disease not phenotype-associated
VAR_022187 commonName VAR_022187
VAR_022187 disease not phenotype-associated
VAR_022188 commonName VAR_022188
VAR_022188 disease not phenotype-associated
VAR_022189 commonName VAR_022189
VAR_022189 disease not phenotype-associated
VAR_022190 commonName VAR_022190
VAR_022190 disease not phenotype-associated
VAR_022191 commonName VAR_022191
VAR_022191 disease not phenotype-associated
VAR_022192 commonName VAR_022192
VAR_022192 disease not phenotype-associated
VAR_022193 commonName VAR_022193
VAR_022193 disease not phenotype-associated
VAR_022194 commonName VAR_022194
VAR_022194 disease not phenotype-associated
VAR_022195 commonName VAR_022195
VAR_022195 disease not phenotype-associated
VAR_022196 commonName VAR_022196
VAR_022196 disease not phenotype-associated
VAR_022197 commonName VAR_022197
VAR_022197 disease not phenotype-associated
VAR_022198 commonName VAR_022198
VAR_022198 disease not phenotype-associated
VAR_022199 commonName VAR_022199
VAR_022199 disease not phenotype-associated
VAR_022200 commonName VAR_022200
VAR_022200 disease not phenotype-associated
VAR_022201 commonName VAR_022201
VAR_022201 disease not phenotype-associated
VAR_022202 commonName VAR_022202
VAR_022202 disease not phenotype-associated
VAR_022203 commonName VAR_022203
VAR_022203 disease not phenotype-associated
VAR_022204 commonName VAR_022204
VAR_022204 disease not phenotype-associated
VAR_022205 commonName VAR_022205
VAR_022205 disease not phenotype-associated
VAR_022206 commonName VAR_022206
VAR_022206 disease not phenotype-associated
VAR_022207 commonName VAR_022207
VAR_022207 disease not phenotype-associated
VAR_022208 commonName VAR_022208
VAR_022208 disease not phenotype-associated
VAR_022209 commonName VAR_022209
VAR_022209 disease not phenotype-associated
VAR_022210 commonName VAR_022210
VAR_022210 disease not phenotype-associated
VAR_022212 commonName VAR_022212
VAR_022212 disease not phenotype-associated
VAR_022213 commonName VAR_022213
VAR_022213 disease not phenotype-associated
VAR_022214 commonName VAR_022214
VAR_022214 disease not phenotype-associated
VAR_022215 commonName VAR_022215
VAR_022215 disease not phenotype-associated
VAR_022216 commonName VAR_022216
VAR_022216 disease not phenotype-associated
VAR_022217 commonName VAR_022217
VAR_022217 disease not phenotype-associated
VAR_022218 commonName VAR_022218
VAR_022218 disease not phenotype-associated
VAR_022219 commonName VAR_022219
VAR_022219 disease not phenotype-associated
VAR_022220 commonName VAR_022220
VAR_022220 disease not phenotype-associated
VAR_022221 commonName VAR_022221
VAR_022221 disease not phenotype-associated
VAR_022222 commonName VAR_022222
VAR_022222 disease not phenotype-associated
VAR_022223 commonName VAR_022223
VAR_022223 disease not phenotype-associated
VAR_022224 commonName VAR_022224
VAR_022224 disease not phenotype-associated
VAR_022225 commonName VAR_022225
VAR_022225 disease not phenotype-associated
VAR_022226 commonName VAR_022226
VAR_022226 disease not phenotype-associated
VAR_022227 commonName VAR_022227
VAR_022227 disease not phenotype-associated
VAR_022228 commonName VAR_022228
VAR_022228 disease not phenotype-associated
VAR_022229 commonName VAR_022229
VAR_022229 disease not phenotype-associated
VAR_022230 commonName VAR_022230
VAR_022230 disease not phenotype-associated
VAR_022231 commonName VAR_022231
VAR_022231 disease not phenotype-associated
VAR_022232 commonName VAR_022232
VAR_022232 disease not phenotype-associated
VAR_022233 commonName VAR_022233
VAR_022233 disease not phenotype-associated
VAR_022234 commonName VAR_022234
VAR_022234 disease not phenotype-associated
VAR_022235 commonName VAR_022235
VAR_022235 disease not phenotype-associated
VAR_022236 commonName VAR_022236
VAR_022236 disease not phenotype-associated
VAR_022237 commonName VAR_022237
VAR_022237 disease not phenotype-associated
VAR_022238 commonName VAR_022238
VAR_022238 disease not phenotype-associated
VAR_022239 commonName VAR_022239
VAR_022239 disease not phenotype-associated
VAR_022240 commonName VAR_022240
VAR_022240 disease not phenotype-associated
VAR_022241 commonName VAR_022241
VAR_022241 disease not phenotype-associated
VAR_022242 commonName VAR_022242
VAR_022242 disease not phenotype-associated
VAR_022243 commonName VAR_022243
VAR_022243 disease not phenotype-associated
VAR_022244 commonName VAR_022244
VAR_022244 disease not phenotype-associated
VAR_022245 commonName VAR_022245
VAR_022245 disease not phenotype-associated
VAR_022246 commonName VAR_022246
VAR_022246 disease not phenotype-associated
VAR_022247 commonName VAR_022247
VAR_022247 disease not phenotype-associated
VAR_022248 commonName VAR_022248
VAR_022248 disease not phenotype-associated
VAR_022249 commonName VAR_022249
VAR_022249 disease not phenotype-associated
VAR_022250 commonName VAR_022250
VAR_022250 disease not phenotype-associated
VAR_022251 commonName VAR_022251
VAR_022251 disease not phenotype-associated
VAR_022252 commonName VAR_022252
VAR_022252 disease not phenotype-associated
VAR_022254 commonName VAR_022254
VAR_022254 disease not phenotype-associated
VAR_022255 commonName VAR_022255
VAR_022255 disease not phenotype-associated
VAR_022256 commonName VAR_022256
VAR_022256 disease not phenotype-associated
VAR_022257 commonName VAR_022257
VAR_022257 disease not phenotype-associated
VAR_022258 commonName VAR_022258
VAR_022258 disease not phenotype-associated
VAR_022259 commonName VAR_022259
VAR_022259 disease not phenotype-associated
VAR_022260 commonName VAR_022260
VAR_022260 disease not phenotype-associated
VAR_022261 commonName VAR_022261
VAR_022261 disease not phenotype-associated
VAR_022262 commonName VAR_022262
VAR_022262 disease not phenotype-associated
VAR_022263 commonName VAR_022263
VAR_022263 disease not phenotype-associated
VAR_022264 commonName VAR_022264
VAR_022264 disease not phenotype-associated
VAR_022265 commonName VAR_022265
VAR_022265 disease not phenotype-associated
VAR_022266 commonName VAR_022266
VAR_022266 disease not phenotype-associated
VAR_022267 commonName VAR_022267
VAR_022267 disease not phenotype-associated
VAR_022268 commonName VAR_022268
VAR_022268 disease not phenotype-associated
VAR_022269 commonName VAR_022269
VAR_022269 disease not phenotype-associated
VAR_022270 commonName VAR_022270
VAR_022270 disease not phenotype-associated
VAR_022271 commonName VAR_022271
VAR_022271 disease not phenotype-associated
VAR_022272 commonName VAR_022272
VAR_022272 disease not phenotype-associated
VAR_022273 commonName VAR_022273
VAR_022273 disease not phenotype-associated
VAR_022274 commonName VAR_022274
VAR_022274 disease not phenotype-associated
VAR_022275 commonName VAR_022275
VAR_022275 disease not phenotype-associated
VAR_022276 commonName VAR_022276
VAR_022276 disease not phenotype-associated
VAR_022277 commonName VAR_022277
VAR_022277 disease not phenotype-associated
VAR_022278 commonName VAR_022278
VAR_022278 disease not phenotype-associated
VAR_022279 commonName VAR_022279
VAR_022279 disease not phenotype-associated
VAR_022280 commonName VAR_022280
VAR_022280 disease not phenotype-associated
VAR_022281 commonName VAR_022281
VAR_022281 disease not phenotype-associated
VAR_022282 commonName VAR_022282
VAR_022282 disease not phenotype-associated
VAR_022283 commonName VAR_022283
VAR_022283 disease not phenotype-associated
VAR_022284 commonName VAR_022284
VAR_022284 disease not phenotype-associated
VAR_022285 commonName VAR_022285
VAR_022285 disease not phenotype-associated
VAR_022286 commonName VAR_022286
VAR_022286 disease not phenotype-associated
VAR_022287 commonName VAR_022287
VAR_022287 disease not phenotype-associated
VAR_022288 commonName VAR_022288
VAR_022288 disease not phenotype-associated
VAR_022289 commonName VAR_022289
VAR_022289 disease not phenotype-associated
VAR_022290 commonName VAR_022290
VAR_022290 disease not phenotype-associated
VAR_022291 commonName VAR_022291
VAR_022291 disease not phenotype-associated
VAR_022292 commonName VAR_022292
VAR_022292 disease not phenotype-associated
VAR_022293 commonName VAR_022293
VAR_022293 disease not phenotype-associated
VAR_022294 commonName VAR_022294
VAR_022294 disease not phenotype-associated
VAR_022295 commonName VAR_022295
VAR_022295 disease not phenotype-associated
VAR_022296 commonName VAR_022296
VAR_022296 disease not phenotype-associated
VAR_022297 commonName VAR_022297
VAR_022297 disease not phenotype-associated
VAR_022298 commonName VAR_022298
VAR_022298 disease not phenotype-associated
VAR_022299 commonName VAR_022299
VAR_022299 disease not phenotype-associated
VAR_022300 commonName VAR_022300
VAR_022300 disease not phenotype-associated
VAR_022302 commonName VAR_022302
VAR_022302 disease not phenotype-associated
VAR_022303 commonName VAR_022303
VAR_022303 disease not phenotype-associated
VAR_022304 commonName VAR_022304
VAR_022304 disease not phenotype-associated
VAR_022305 commonName VAR_022305
VAR_022305 disease not phenotype-associated
VAR_022306 commonName VAR_022306
VAR_022306 disease not phenotype-associated
VAR_022307 commonName VAR_022307
VAR_022307 disease not phenotype-associated
VAR_022308 commonName VAR_022308
VAR_022308 disease not phenotype-associated
VAR_022309 commonName VAR_022309
VAR_022309 disease not phenotype-associated
VAR_022310 commonName VAR_022310
VAR_022310 disease not phenotype-associated
VAR_022311 commonName VAR_022311
VAR_022311 disease not phenotype-associated
VAR_022312 commonName VAR_022312
VAR_022312 disease not phenotype-associated
VAR_022313 commonName VAR_022313
VAR_022313 disease not phenotype-associated
VAR_022314 commonName VAR_022314
VAR_022314 disease not phenotype-associated
VAR_022315 commonName VAR_022315
VAR_022315 disease not phenotype-associated
VAR_022316 comment A sporadic cancer
VAR_022316 commonName VAR_022316
VAR_022318 commonName VAR_022318
VAR_022318 disease not phenotype-associated
VAR_022319 commonName VAR_022319
VAR_022319 disease not phenotype-associated
VAR_022320 commonName VAR_022320
VAR_022320 disease not phenotype-associated
VAR_022321 commonName VAR_022321
VAR_022321 disease phenotype-associated
VAR_022321 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022322 commonName VAR_022322
VAR_022322 disease phenotype-associated
VAR_022322 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022323 commonName VAR_022323
VAR_022323 disease phenotype-associated
VAR_022323 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022324 commonName VAR_022324
VAR_022324 disease phenotype-associated
VAR_022324 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022325 commonName VAR_022325
VAR_022325 disease phenotype-associated
VAR_022325 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022326 commonName VAR_022326
VAR_022326 disease phenotype-associated
VAR_022326 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022327 commonName VAR_022327
VAR_022327 disease phenotype-associated
VAR_022327 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022328 commonName VAR_022328
VAR_022328 disease phenotype-associated
VAR_022328 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022329 commonName VAR_022329
VAR_022329 disease phenotype-associated
VAR_022329 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022330 commonName VAR_022330
VAR_022330 disease phenotype-associated
VAR_022330 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022331 commonName VAR_022331
VAR_022331 disease phenotype-associated
VAR_022331 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022333 commonName VAR_022333
VAR_022333 disease phenotype-associated
VAR_022333 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022334 commonName VAR_022334
VAR_022334 disease phenotype-associated
VAR_022334 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022335 commonName VAR_022335
VAR_022335 disease phenotype-associated
VAR_022335 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022336 commonName VAR_022336
VAR_022336 disease phenotype-associated
VAR_022336 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022337 commonName VAR_022337
VAR_022337 disease phenotype-associated
VAR_022337 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_022341 commonName VAR_022341
VAR_022341 disease phenotype-associated
VAR_022341 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_022344 commonName VAR_022344
VAR_022344 disease phenotype-associated
VAR_022344 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_022345 commonName VAR_022345
VAR_022345 disease phenotype-associated
VAR_022345 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_022346 commonName VAR_022346
VAR_022346 disease phenotype-associated
VAR_022346 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_022363 commonName VAR_022363
VAR_022363 disease not phenotype-associated
VAR_022364 commonName VAR_022364
VAR_022364 disease not phenotype-associated
VAR_022365 commonName VAR_022365
VAR_022365 disease not phenotype-associated
VAR_022366 commonName VAR_022366
VAR_022366 disease not phenotype-associated
VAR_022367 commonName VAR_022367
VAR_022367 disease not phenotype-associated
VAR_022368 commonName VAR_022368
VAR_022368 disease not phenotype-associated
VAR_022369 commonName VAR_022369
VAR_022369 disease phenotype-associated
VAR_022369 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500]
VAR_022370 commonName VAR_022370
VAR_022370 disease phenotype-associated
VAR_022370 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500]
VAR_022371 commonName VAR_022371
VAR_022371 disease phenotype-associated
VAR_022371 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500]
VAR_022372 commonName VAR_022372
VAR_022372 disease not phenotype-associated
VAR_022373 commonName VAR_022373
VAR_022373 disease not phenotype-associated
VAR_022374 commonName VAR_022374
VAR_022374 disease not phenotype-associated
VAR_022375 commonName VAR_022375
VAR_022375 disease phenotype-associated
VAR_022375 phenoCommon Spastic paraplegia type 17 (SPG17) [MIM:270685]
VAR_022376 commonName VAR_022376
VAR_022376 disease phenotype-associated
VAR_022376 phenoCommon Spastic paraplegia type 17 (SPG17) [MIM:270685]
VAR_022377 commonName VAR_022377
VAR_022377 disease phenotype-associated
VAR_022377 phenoCommon Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]
VAR_022378 commonName VAR_022378
VAR_022378 disease phenotype-associated
VAR_022378 phenoCommon Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
VAR_022379 commonName VAR_022379
VAR_022379 disease phenotype-associated
VAR_022379 phenoCommon Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
VAR_022380 commonName VAR_022380
VAR_022380 disease not phenotype-associated
VAR_022381 commonName VAR_022381
VAR_022381 disease not phenotype-associated
VAR_022382 commonName VAR_022382
VAR_022382 disease not phenotype-associated
VAR_022383 commonName VAR_022383
VAR_022383 disease not phenotype-associated
VAR_022384 commonName VAR_022384
VAR_022384 disease not phenotype-associated
VAR_022385 commonName VAR_022385
VAR_022385 disease not phenotype-associated
VAR_022386 commonName VAR_022386
VAR_022386 disease not phenotype-associated
VAR_022387 commonName VAR_022387
VAR_022387 disease not phenotype-associated
VAR_022388 commonName VAR_022388
VAR_022388 disease phenotype-associated
VAR_022388 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_022389 commonName VAR_022389
VAR_022389 disease phenotype-associated
VAR_022389 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_022390 commonName VAR_022390
VAR_022390 disease phenotype-associated
VAR_022390 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_022391 commonName VAR_022391
VAR_022391 disease phenotype-associated
VAR_022391 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_022392 commonName VAR_022392
VAR_022392 disease phenotype-associated
VAR_022392 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
VAR_022393 commonName VAR_022393
VAR_022393 disease phenotype-associated
VAR_022393 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022394 commonName VAR_022394
VAR_022394 disease phenotype-associated
VAR_022394 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022395 commonName VAR_022395
VAR_022395 disease phenotype-associated
VAR_022395 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022396 commonName VAR_022396
VAR_022396 disease phenotype-associated
VAR_022396 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022397 commonName VAR_022397
VAR_022397 disease phenotype-associated
VAR_022397 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022398 commonName VAR_022398
VAR_022398 disease phenotype-associated
VAR_022398 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022399 commonName VAR_022399
VAR_022399 disease phenotype-associated
VAR_022399 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022400 commonName VAR_022400
VAR_022400 disease phenotype-associated
VAR_022400 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022401 commonName VAR_022401
VAR_022401 disease phenotype-associated
VAR_022401 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022402 commonName VAR_022402
VAR_022402 disease phenotype-associated
VAR_022402 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022403 commonName VAR_022403
VAR_022403 disease phenotype-associated
VAR_022403 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022404 commonName VAR_022404
VAR_022404 disease phenotype-associated
VAR_022404 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022405 commonName VAR_022405
VAR_022405 disease phenotype-associated
VAR_022405 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022406 commonName VAR_022406
VAR_022406 disease phenotype-associated
VAR_022406 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022407 commonName VAR_022407
VAR_022407 disease not phenotype-associated
VAR_022408 commonName VAR_022408
VAR_022408 disease phenotype-associated
VAR_022408 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022409 commonName VAR_022409
VAR_022409 disease phenotype-associated
VAR_022409 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022410 commonName VAR_022410
VAR_022410 disease phenotype-associated
VAR_022410 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022411 commonName VAR_022411
VAR_022411 disease phenotype-associated
VAR_022411 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022412 commonName VAR_022412
VAR_022412 disease phenotype-associated
VAR_022412 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022413 commonName VAR_022413
VAR_022413 disease phenotype-associated
VAR_022413 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022414 commonName VAR_022414
VAR_022414 disease phenotype-associated
VAR_022414 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022415 commonName VAR_022415
VAR_022415 disease phenotype-associated
VAR_022415 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022416 commonName VAR_022416
VAR_022416 disease phenotype-associated
VAR_022416 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022417 commonName VAR_022417
VAR_022417 disease phenotype-associated
VAR_022417 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022418 commonName VAR_022418
VAR_022418 disease phenotype-associated
VAR_022418 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_022419 commonName VAR_022419
VAR_022419 disease phenotype-associated
VAR_022419 phenoCommon Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]
VAR_022423 commonName VAR_022423
VAR_022423 disease not phenotype-associated
VAR_022424 commonName VAR_022424
VAR_022424 disease not phenotype-associated
VAR_022425 commonName VAR_022425
VAR_022425 disease not phenotype-associated
VAR_022426 commonName VAR_022426
VAR_022426 disease not phenotype-associated
VAR_022427 commonName VAR_022427
VAR_022427 disease not phenotype-associated
VAR_022428 commonName VAR_022428
VAR_022428 disease not phenotype-associated
VAR_022429 commonName VAR_022429
VAR_022429 disease phenotype-associated
VAR_022429 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022430 commonName VAR_022430
VAR_022430 disease phenotype-associated
VAR_022430 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022431 commonName VAR_022431
VAR_022431 disease phenotype-associated
VAR_022431 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022432 commonName VAR_022432
VAR_022432 disease phenotype-associated
VAR_022432 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022433 commonName VAR_022433
VAR_022433 disease phenotype-associated
VAR_022433 phenoCommon Adult polyglucosan body disease (APBD) [MIM:263570]
VAR_022434 commonName VAR_022434
VAR_022434 disease phenotype-associated
VAR_022434 phenoCommon Adult polyglucosan body disease (APBD) [MIM:263570]
VAR_022434 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022435 commonName VAR_022435
VAR_022435 disease phenotype-associated
VAR_022435 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022436 commonName VAR_022436
VAR_022436 disease phenotype-associated
VAR_022436 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500]
VAR_022437 commonName VAR_022437
VAR_022437 disease not phenotype-associated
VAR_022439 commonName VAR_022439
VAR_022439 disease phenotype-associated
VAR_022439 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_022440 commonName VAR_022440
VAR_022440 disease phenotype-associated
VAR_022440 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_022441 commonName VAR_022441
VAR_022441 disease phenotype-associated
VAR_022441 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_022442 commonName VAR_022442
VAR_022442 disease phenotype-associated
VAR_022442 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
VAR_022443 commonName VAR_022443
VAR_022443 disease not phenotype-associated
VAR_022444 commonName VAR_022444
VAR_022444 disease not phenotype-associated
VAR_022445 commonName VAR_022445
VAR_022445 disease not phenotype-associated
VAR_022446 commonName VAR_022446
VAR_022446 disease not phenotype-associated
VAR_022447 commonName VAR_022447
VAR_022447 disease not phenotype-associated
VAR_022448 commonName VAR_022448
VAR_022448 disease not phenotype-associated
VAR_022449 commonName VAR_022449
VAR_022449 disease not phenotype-associated
VAR_022450 commonName VAR_022450
VAR_022450 disease not phenotype-associated
VAR_022451 commonName VAR_022451
VAR_022451 disease not phenotype-associated
VAR_022452 commonName VAR_022452
VAR_022452 disease not phenotype-associated
VAR_022453 commonName VAR_022453
VAR_022453 disease not phenotype-associated
VAR_022454 commonName VAR_022454
VAR_022454 disease not phenotype-associated
VAR_022455 commonName VAR_022455
VAR_022455 disease not phenotype-associated
VAR_022456 commonName VAR_022456
VAR_022456 disease not phenotype-associated
VAR_022457 commonName VAR_022457
VAR_022457 disease not phenotype-associated
VAR_022458 commonName VAR_022458
VAR_022458 disease not phenotype-associated
VAR_022459 commonName VAR_022459
VAR_022459 disease phenotype-associated
VAR_022459 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
VAR_022460 commonName VAR_022460
VAR_022460 disease phenotype-associated
VAR_022460 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
VAR_022461 commonName VAR_022461
VAR_022461 disease not phenotype-associated
VAR_022462 commonName VAR_022462
VAR_022464 commonName VAR_022464
VAR_022464 disease phenotype-associated
VAR_022464 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_022465 commonName VAR_022465
VAR_022465 disease not phenotype-associated
VAR_022466 commonName VAR_022466
VAR_022466 disease not phenotype-associated
VAR_022467 commonName VAR_022467
VAR_022467 disease not phenotype-associated
VAR_022468 commonName VAR_022468
VAR_022468 disease not phenotype-associated
VAR_022469 commonName VAR_022469
VAR_022469 disease phenotype-associated
VAR_022469 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022470 commonName VAR_022470
VAR_022470 disease phenotype-associated
VAR_022470 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022471 commonName VAR_022471
VAR_022471 disease phenotype-associated
VAR_022471 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022472 commonName VAR_022472
VAR_022472 disease phenotype-associated
VAR_022472 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022473 commonName VAR_022473
VAR_022473 disease phenotype-associated
VAR_022473 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022474 commonName VAR_022474
VAR_022474 disease phenotype-associated
VAR_022474 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022475 commonName VAR_022475
VAR_022475 disease not phenotype-associated
VAR_022476 commonName VAR_022476
VAR_022476 disease phenotype-associated
VAR_022476 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022477 commonName VAR_022477
VAR_022477 disease phenotype-associated
VAR_022477 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022478 commonName VAR_022478
VAR_022478 disease phenotype-associated
VAR_022478 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022479 commonName VAR_022479
VAR_022479 disease phenotype-associated
VAR_022479 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022480 commonName VAR_022480
VAR_022480 disease phenotype-associated
VAR_022480 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022481 commonName VAR_022481
VAR_022481 disease phenotype-associated
VAR_022481 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022482 commonName VAR_022482
VAR_022482 disease phenotype-associated
VAR_022482 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022483 commonName VAR_022483
VAR_022483 disease phenotype-associated
VAR_022483 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022484 commonName VAR_022484
VAR_022484 disease phenotype-associated
VAR_022484 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022485 commonName VAR_022485
VAR_022485 disease phenotype-associated
VAR_022485 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022486 commonName VAR_022486
VAR_022486 disease phenotype-associated
VAR_022486 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022487 commonName VAR_022487
VAR_022487 disease phenotype-associated
VAR_022487 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022488 commonName VAR_022488
VAR_022488 disease phenotype-associated
VAR_022488 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022489 commonName VAR_022489
VAR_022489 disease phenotype-associated
VAR_022489 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022490 commonName VAR_022490
VAR_022490 disease phenotype-associated
VAR_022490 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022491 commonName VAR_022491
VAR_022491 disease phenotype-associated
VAR_022491 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022492 commonName VAR_022492
VAR_022492 disease phenotype-associated
VAR_022492 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022493 commonName VAR_022493
VAR_022493 disease phenotype-associated
VAR_022493 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022494 commonName VAR_022494
VAR_022494 disease phenotype-associated
VAR_022494 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022495 commonName VAR_022495
VAR_022495 disease phenotype-associated
VAR_022495 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022496 commonName VAR_022496
VAR_022496 disease phenotype-associated
VAR_022496 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022497 commonName VAR_022497
VAR_022497 disease phenotype-associated
VAR_022497 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022498 commonName VAR_022498
VAR_022498 disease phenotype-associated
VAR_022498 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022499 commonName VAR_022499
VAR_022499 disease phenotype-associated
VAR_022499 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022500 commonName VAR_022500
VAR_022500 disease phenotype-associated
VAR_022500 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022501 commonName VAR_022501
VAR_022501 disease phenotype-associated
VAR_022501 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022502 commonName VAR_022502
VAR_022502 disease phenotype-associated
VAR_022502 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022503 commonName VAR_022503
VAR_022503 disease phenotype-associated
VAR_022503 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022504 commonName VAR_022504
VAR_022504 disease phenotype-associated
VAR_022504 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022505 commonName VAR_022505
VAR_022505 disease phenotype-associated
VAR_022505 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022506 commonName VAR_022506
VAR_022506 disease phenotype-associated
VAR_022506 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022507 commonName VAR_022507
VAR_022507 disease phenotype-associated
VAR_022507 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022508 commonName VAR_022508
VAR_022508 disease phenotype-associated
VAR_022508 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022509 commonName VAR_022509
VAR_022509 disease phenotype-associated
VAR_022509 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022510 commonName VAR_022510
VAR_022510 disease phenotype-associated
VAR_022510 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022511 commonName VAR_022511
VAR_022511 disease phenotype-associated
VAR_022511 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_022512 commonName VAR_022512
VAR_022512 disease phenotype-associated
VAR_022512 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_022513 commonName VAR_022513
VAR_022513 disease phenotype-associated
VAR_022513 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_022514 commonName VAR_022514
VAR_022514 disease phenotype-associated
VAR_022514 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
VAR_022516 commonName VAR_022516
VAR_022516 disease phenotype-associated
VAR_022516 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022517 commonName VAR_022517
VAR_022517 disease phenotype-associated
VAR_022517 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022518 commonName VAR_022518
VAR_022518 disease phenotype-associated
VAR_022518 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022519 commonName VAR_022519
VAR_022519 disease phenotype-associated
VAR_022519 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022520 commonName VAR_022520
VAR_022520 disease phenotype-associated
VAR_022520 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022521 commonName VAR_022521
VAR_022521 disease phenotype-associated
VAR_022521 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022522 commonName VAR_022522
VAR_022522 disease phenotype-associated
VAR_022522 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]
VAR_022525 commonName VAR_022525
VAR_022525 disease phenotype-associated
VAR_022525 phenoCommon Kanzaki disease (KANZD) [MIM:609242]
VAR_022526 commonName VAR_022526
VAR_022526 disease phenotype-associated
VAR_022526 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]
VAR_022527 commonName VAR_022527
VAR_022527 disease not phenotype-associated
VAR_022528 commonName VAR_022528
VAR_022528 disease phenotype-associated
VAR_022528 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]
VAR_022529 commonName VAR_022529
VAR_022529 disease phenotype-associated
VAR_022529 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022530 commonName VAR_022530
VAR_022530 disease phenotype-associated
VAR_022530 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022531 commonName VAR_022531
VAR_022531 disease not phenotype-associated
VAR_022532 commonName VAR_022532
VAR_022532 disease not phenotype-associated
VAR_022533 commonName VAR_022533
VAR_022533 disease phenotype-associated
VAR_022533 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]
VAR_022534 commonName VAR_022534
VAR_022534 disease phenotype-associated
VAR_022534 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022535 commonName VAR_022535
VAR_022535 disease phenotype-associated
VAR_022535 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022536 commonName VAR_022536
VAR_022536 disease not phenotype-associated
VAR_022537 commonName VAR_022537
VAR_022537 disease not phenotype-associated
VAR_022538 commonName VAR_022538
VAR_022538 disease phenotype-associated
VAR_022538 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022539 commonName VAR_022539
VAR_022539 disease phenotype-associated
VAR_022539 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022540 commonName VAR_022540
VAR_022540 disease phenotype-associated
VAR_022540 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022542 commonName VAR_022542
VAR_022542 disease phenotype-associated
VAR_022542 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]
VAR_022543 commonName VAR_022543
VAR_022543 disease phenotype-associated
VAR_022543 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022544 commonName VAR_022544
VAR_022544 disease phenotype-associated
VAR_022544 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022545 commonName VAR_022545
VAR_022545 disease phenotype-associated
VAR_022545 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022546 commonName VAR_022546
VAR_022546 disease phenotype-associated
VAR_022546 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]
VAR_022547 commonName VAR_022547
VAR_022547 disease phenotype-associated
VAR_022547 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022548 commonName VAR_022548
VAR_022548 disease phenotype-associated
VAR_022548 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966]
VAR_022549 commonName VAR_022549
VAR_022549 disease not phenotype-associated
VAR_022550 commonName VAR_022550
VAR_022550 disease not phenotype-associated
VAR_022551 commonName VAR_022551
VAR_022551 disease not phenotype-associated
VAR_022552 commonName VAR_022552
VAR_022552 disease not phenotype-associated
VAR_022553 commonName VAR_022553
VAR_022553 disease not phenotype-associated
VAR_022554 commonName VAR_022554
VAR_022554 disease not phenotype-associated
VAR_022555 commonName VAR_022555
VAR_022555 disease not phenotype-associated
VAR_022556 commonName VAR_022556
VAR_022556 disease not phenotype-associated
VAR_022557 commonName VAR_022557
VAR_022557 disease not phenotype-associated
VAR_022558 commonName VAR_022558
VAR_022558 disease not phenotype-associated
VAR_022559 commonName VAR_022559
VAR_022559 disease phenotype-associated
VAR_022559 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
VAR_022560 commonName VAR_022560
VAR_022560 disease phenotype-associated
VAR_022560 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
VAR_022561 commonName VAR_022561
VAR_022561 disease not phenotype-associated
VAR_022562 commonName VAR_022562
VAR_022562 disease phenotype-associated
VAR_022562 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
VAR_022563 commonName VAR_022563
VAR_022563 disease phenotype-associated
VAR_022563 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
VAR_022564 commonName VAR_022564
VAR_022564 disease phenotype-associated
VAR_022564 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_022565 commonName VAR_022565
VAR_022565 disease phenotype-associated
VAR_022565 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_022566 commonName VAR_022566
VAR_022566 disease phenotype-associated
VAR_022566 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_022567 commonName VAR_022567
VAR_022567 disease phenotype-associated
VAR_022567 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022568 commonName VAR_022568
VAR_022568 disease phenotype-associated
VAR_022568 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_022569 commonName VAR_022569
VAR_022569 disease phenotype-associated
VAR_022569 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022570 commonName VAR_022570
VAR_022570 disease phenotype-associated
VAR_022570 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022571 commonName VAR_022571
VAR_022571 disease phenotype-associated
VAR_022571 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022572 commonName VAR_022572
VAR_022572 disease phenotype-associated
VAR_022572 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022573 commonName VAR_022573
VAR_022573 disease phenotype-associated
VAR_022573 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022574 commonName VAR_022574
VAR_022574 disease phenotype-associated
VAR_022574 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022575 commonName VAR_022575
VAR_022575 disease phenotype-associated
VAR_022575 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022576 commonName VAR_022576
VAR_022576 disease phenotype-associated
VAR_022576 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022577 commonName VAR_022577
VAR_022577 disease phenotype-associated
VAR_022577 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022578 commonName VAR_022578
VAR_022578 disease phenotype-associated
VAR_022578 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100]
VAR_022579 commonName VAR_022579
VAR_022579 disease phenotype-associated
VAR_022579 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_022580 commonName VAR_022580
VAR_022580 disease phenotype-associated
VAR_022580 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_022581 commonName VAR_022581
VAR_022581 disease phenotype-associated
VAR_022581 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
VAR_022582 commonName VAR_022582
VAR_022582 disease phenotype-associated
VAR_022582 phenoCommon Congenital vertical talus (CVT) [MIM:192950]
VAR_022583 commonName VAR_022583
VAR_022583 disease phenotype-associated
VAR_022583 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022584 commonName VAR_022584
VAR_022584 disease phenotype-associated
VAR_022584 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022585 commonName VAR_022585
VAR_022585 disease phenotype-associated
VAR_022585 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022586 commonName VAR_022586
VAR_022586 disease phenotype-associated
VAR_022586 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022587 commonName VAR_022587
VAR_022587 disease phenotype-associated
VAR_022587 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022588 commonName VAR_022588
VAR_022588 disease phenotype-associated
VAR_022588 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022589 commonName VAR_022589
VAR_022589 disease phenotype-associated
VAR_022589 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022590 commonName VAR_022590
VAR_022590 disease phenotype-associated
VAR_022590 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022591 commonName VAR_022591
VAR_022591 disease phenotype-associated
VAR_022591 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022592 commonName VAR_022592
VAR_022592 disease phenotype-associated
VAR_022592 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022593 commonName VAR_022593
VAR_022593 disease phenotype-associated
VAR_022593 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]
VAR_022594 commonName VAR_022594
VAR_022594 disease phenotype-associated
VAR_022594 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_022595 commonName VAR_022595
VAR_022595 disease phenotype-associated
VAR_022595 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_022596 commonName VAR_022596
VAR_022596 disease phenotype-associated
VAR_022596 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_022598 commonName VAR_022598
VAR_022598 disease phenotype-associated
VAR_022598 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_022599 commonName VAR_022599
VAR_022599 disease phenotype-associated
VAR_022599 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_022600 commonName VAR_022600
VAR_022600 disease phenotype-associated
VAR_022600 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_022601 commonName VAR_022601
VAR_022601 disease phenotype-associated
VAR_022601 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_022603 commonName VAR_022603
VAR_022603 disease phenotype-associated
VAR_022603 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_022604 commonName VAR_022604
VAR_022604 disease phenotype-associated
VAR_022604 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100]
VAR_022605 commonName VAR_022605
VAR_022605 disease not phenotype-associated
VAR_022606 commonName VAR_022606
VAR_022606 disease phenotype-associated
VAR_022606 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600]
VAR_022607 commonName VAR_022607
VAR_022607 disease phenotype-associated
VAR_022607 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600]
VAR_022608 commonName VAR_022608
VAR_022608 disease phenotype-associated
VAR_022608 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
VAR_022609 commonName VAR_022609
VAR_022609 disease phenotype-associated
VAR_022609 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
VAR_022612 commonName VAR_022612
VAR_022612 disease not phenotype-associated
VAR_022614 commonName VAR_022614
VAR_022614 disease not phenotype-associated
VAR_022622 commonName VAR_022622
VAR_022622 disease not phenotype-associated
VAR_022623 commonName VAR_022623
VAR_022623 disease not phenotype-associated
VAR_022624 commonName VAR_022624
VAR_022624 disease not phenotype-associated
VAR_022625 commonName VAR_022625
VAR_022625 disease not phenotype-associated
VAR_022626 commonName VAR_022626
VAR_022626 disease phenotype-associated
VAR_022626 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022627 commonName VAR_022627
VAR_022627 disease phenotype-associated
VAR_022627 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022628 commonName VAR_022628
VAR_022628 disease phenotype-associated
VAR_022628 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022629 commonName VAR_022629
VAR_022629 disease phenotype-associated
VAR_022629 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022630 commonName VAR_022630
VAR_022630 disease phenotype-associated
VAR_022630 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022631 commonName VAR_022631
VAR_022631 disease phenotype-associated
VAR_022631 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022632 commonName VAR_022632
VAR_022632 disease phenotype-associated
VAR_022632 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022633 commonName VAR_022633
VAR_022633 disease phenotype-associated
VAR_022633 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059]
VAR_022634 commonName VAR_022634
VAR_022634 disease not phenotype-associated
VAR_022635 commonName VAR_022635
VAR_022635 disease not phenotype-associated
VAR_022636 commonName VAR_022636
VAR_022636 disease not phenotype-associated
VAR_022642 commonName VAR_022642
VAR_022642 disease not phenotype-associated
VAR_022643 commonName VAR_022643
VAR_022643 disease not phenotype-associated
VAR_022644 commonName VAR_022644
VAR_022644 disease not phenotype-associated
VAR_022647 commonName VAR_022647
VAR_022647 disease phenotype-associated
VAR_022647 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
VAR_022648 commonName VAR_022648
VAR_022648 disease not phenotype-associated
VAR_022649 commonName VAR_022649
VAR_022649 disease phenotype-associated
VAR_022649 phenoCommon Roberts syndrome (RBS) [MIM:268300]
VAR_022650 commonName VAR_022650
VAR_022650 disease not phenotype-associated
VAR_022651 commonName VAR_022651
VAR_022651 disease not phenotype-associated
VAR_022652 commonName VAR_022652
VAR_022652 disease not phenotype-associated
VAR_022653 commonName VAR_022653
VAR_022653 disease not phenotype-associated
VAR_022654 commonName VAR_022654
VAR_022654 disease not phenotype-associated
VAR_022655 commonName VAR_022655
VAR_022655 disease not phenotype-associated
VAR_022656 commonName VAR_022656
VAR_022656 disease not phenotype-associated
VAR_022658 commonName VAR_022658
VAR_022658 disease not phenotype-associated
VAR_022659 commonName VAR_022659
VAR_022659 disease not phenotype-associated
VAR_022660 commonName VAR_022660
VAR_022660 disease not phenotype-associated
VAR_022661 commonName VAR_022661
VAR_022661 disease phenotype-associated
VAR_022661 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1) [MIM:609308]
VAR_022663 commonName VAR_022663
VAR_022663 disease phenotype-associated
VAR_022663 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022664 commonName VAR_022664
VAR_022664 disease phenotype-associated
VAR_022664 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022665 commonName VAR_022665
VAR_022665 disease not phenotype-associated
VAR_022666 commonName VAR_022666
VAR_022666 disease phenotype-associated
VAR_022666 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022667 commonName VAR_022667
VAR_022667 disease phenotype-associated
VAR_022667 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022668 commonName VAR_022668
VAR_022668 disease phenotype-associated
VAR_022668 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022669 commonName VAR_022669
VAR_022669 disease phenotype-associated
VAR_022669 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_022670 commonName VAR_022670
VAR_022670 disease phenotype-associated
VAR_022670 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_022671 commonName VAR_022671
VAR_022671 disease phenotype-associated
VAR_022671 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_022672 commonName VAR_022672
VAR_022672 disease phenotype-associated
VAR_022672 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_022673 commonName VAR_022673
VAR_022673 disease phenotype-associated
VAR_022673 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_022674 commonName VAR_022674
VAR_022674 disease phenotype-associated
VAR_022674 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_022675 commonName VAR_022675
VAR_022675 disease phenotype-associated
VAR_022675 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600]
VAR_022678 commonName VAR_022678
VAR_022678 disease not phenotype-associated
VAR_022679 commonName VAR_022679
VAR_022679 disease not phenotype-associated
VAR_022680 commonName VAR_022680
VAR_022680 disease not phenotype-associated
VAR_022681 commonName VAR_022681
VAR_022681 disease not phenotype-associated
VAR_022682 commonName VAR_022682
VAR_022682 disease not phenotype-associated
VAR_022683 comment A lung cancer cell line
VAR_022683 commonName VAR_022683
VAR_022684 commonName VAR_022684
VAR_022684 disease not phenotype-associated
VAR_022686 commonName VAR_022686
VAR_022686 disease not phenotype-associated
VAR_022687 commonName VAR_022687
VAR_022687 disease phenotype-associated
VAR_022687 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490]
VAR_022688 commonName VAR_022688
VAR_022688 disease phenotype-associated
VAR_022688 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600]
VAR_022689 commonName VAR_022689
VAR_022689 disease phenotype-associated
VAR_022689 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490]
VAR_022690 commonName VAR_022690
VAR_022690 disease phenotype-associated
VAR_022690 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490]
VAR_022692 commonName VAR_022692
VAR_022692 disease phenotype-associated
VAR_022692 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600]
VAR_022693 commonName VAR_022693
VAR_022693 disease not phenotype-associated
VAR_022694 commonName VAR_022694
VAR_022694 disease phenotype-associated
VAR_022694 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600]
VAR_022695 commonName VAR_022695
VAR_022695 disease not phenotype-associated
VAR_022696 commonName VAR_022696
VAR_022696 disease not phenotype-associated
VAR_022697 commonName VAR_022697
VAR_022697 disease not phenotype-associated
VAR_022698 commonName VAR_022698
VAR_022698 disease phenotype-associated
VAR_022698 phenoCommon Dent disease type 2 (DD2) [MIM:300555]
VAR_022698 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_022699 commonName VAR_022699
VAR_022699 disease phenotype-associated
VAR_022699 phenoCommon Dent disease type 2 (DD2) [MIM:300555]
VAR_022700 commonName VAR_022700
VAR_022700 disease phenotype-associated
VAR_022700 phenoCommon Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]
VAR_022701 commonName VAR_022701
VAR_022701 disease phenotype-associated
VAR_022701 phenoCommon Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]
VAR_022703 commonName VAR_022703
VAR_022703 disease phenotype-associated
VAR_022703 phenoCommon Dementia Lewy body (DLB) [MIM:127750]
VAR_022703 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601]
VAR_022704 commonName VAR_022704
VAR_022704 disease not phenotype-associated
VAR_022705 commonName VAR_022705
VAR_022705 disease not phenotype-associated
VAR_022706 commonName VAR_022706
VAR_022706 disease not phenotype-associated
VAR_022707 commonName VAR_022707
VAR_022707 disease not phenotype-associated
VAR_022710 commonName VAR_022710
VAR_022710 disease phenotype-associated
VAR_022710 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022711 commonName VAR_022711
VAR_022711 disease phenotype-associated
VAR_022711 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022712 commonName VAR_022712
VAR_022712 disease phenotype-associated
VAR_022712 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022713 commonName VAR_022713
VAR_022713 disease phenotype-associated
VAR_022713 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022714 commonName VAR_022714
VAR_022714 disease phenotype-associated
VAR_022714 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022716 commonName VAR_022716
VAR_022716 disease not phenotype-associated
VAR_022717 commonName VAR_022717
VAR_022717 disease phenotype-associated
VAR_022717 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022718 commonName VAR_022718
VAR_022718 disease phenotype-associated
VAR_022718 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022719 commonName VAR_022719
VAR_022719 disease phenotype-associated
VAR_022719 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022720 commonName VAR_022720
VAR_022720 disease phenotype-associated
VAR_022720 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_022721 commonName VAR_022721
VAR_022721 disease not phenotype-associated
VAR_022722 commonName VAR_022722
VAR_022722 disease not phenotype-associated
VAR_022730 commonName VAR_022730
VAR_022730 disease phenotype-associated
VAR_022730 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_022731 commonName VAR_022731
VAR_022731 disease phenotype-associated
VAR_022731 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_022732 commonName VAR_022732
VAR_022732 disease phenotype-associated
VAR_022732 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_022733 commonName VAR_022733
VAR_022733 disease phenotype-associated
VAR_022733 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_022734 commonName VAR_022734
VAR_022734 disease phenotype-associated
VAR_022734 phenoCommon Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]
VAR_022735 commonName VAR_022735
VAR_022735 disease not phenotype-associated
VAR_022736 commonName VAR_022736
VAR_022736 disease phenotype-associated
VAR_022736 phenoCommon Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]
VAR_022737 commonName VAR_022737
VAR_022737 disease phenotype-associated
VAR_022737 phenoCommon Epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304]
VAR_022738 commonName VAR_022738
VAR_022738 disease not phenotype-associated
VAR_022739 commonName VAR_022739
VAR_022739 disease not phenotype-associated
VAR_022740 commonName VAR_022740
VAR_022740 disease phenotype-associated
VAR_022740 phenoCommon Smith-McCort dysplasia (SMC) [MIM:607326]
VAR_022742 commonName VAR_022742
VAR_022742 disease not phenotype-associated
VAR_022743 commonName VAR_022743
VAR_022743 disease phenotype-associated
VAR_022743 phenoCommon Hereditary intrinsic factor deficiency (IFD) [MIM:261000]
VAR_022744 commonName VAR_022744
VAR_022744 disease not phenotype-associated
VAR_022745 commonName VAR_022745
VAR_022745 disease phenotype-associated
VAR_022745 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022746 commonName VAR_022746
VAR_022746 disease phenotype-associated
VAR_022746 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022747 commonName VAR_022747
VAR_022747 disease phenotype-associated
VAR_022747 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022748 commonName VAR_022748
VAR_022748 disease phenotype-associated
VAR_022748 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022749 commonName VAR_022749
VAR_022749 disease phenotype-associated
VAR_022749 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022750 commonName VAR_022750
VAR_022750 disease phenotype-associated
VAR_022750 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022752 commonName VAR_022752
VAR_022752 disease phenotype-associated
VAR_022752 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022753 commonName VAR_022753
VAR_022753 disease phenotype-associated
VAR_022753 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022754 commonName VAR_022754
VAR_022754 disease phenotype-associated
VAR_022754 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022755 commonName VAR_022755
VAR_022755 disease phenotype-associated
VAR_022755 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022756 commonName VAR_022756
VAR_022756 disease phenotype-associated
VAR_022756 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022757 commonName VAR_022757
VAR_022757 disease phenotype-associated
VAR_022757 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110]
VAR_022758 commonName VAR_022758
VAR_022758 disease phenotype-associated
VAR_022758 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
VAR_022759 commonName VAR_022759
VAR_022759 disease phenotype-associated
VAR_022759 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
VAR_022760 commonName VAR_022760
VAR_022760 disease phenotype-associated
VAR_022760 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
VAR_022761 commonName VAR_022761
VAR_022762 commonName VAR_022762
VAR_022762 disease not phenotype-associated
VAR_022763 commonName VAR_022763
VAR_022763 disease not phenotype-associated
VAR_022764 commonName VAR_022764
VAR_022764 disease not phenotype-associated
VAR_022765 commonName VAR_022765
VAR_022765 disease not phenotype-associated
VAR_022766 commonName VAR_022766
VAR_022766 disease not phenotype-associated
VAR_022767 commonName VAR_022767
VAR_022767 disease not phenotype-associated
VAR_022768 commonName VAR_022768
VAR_022768 disease not phenotype-associated
VAR_022769 commonName VAR_022769
VAR_022769 disease not phenotype-associated
VAR_022770 commonName VAR_022770
VAR_022770 disease not phenotype-associated
VAR_022771 commonName VAR_022771
VAR_022771 disease not phenotype-associated
VAR_022772 commonName VAR_022772
VAR_022772 disease not phenotype-associated
VAR_022773 commonName VAR_022773
VAR_022773 disease not phenotype-associated
VAR_022774 commonName VAR_022774
VAR_022774 disease not phenotype-associated
VAR_022775 commonName VAR_022775
VAR_022775 disease not phenotype-associated
VAR_022776 commonName VAR_022776
VAR_022776 disease not phenotype-associated
VAR_022780 commonName VAR_022780
VAR_022780 disease not phenotype-associated
VAR_022781 commonName VAR_022781
VAR_022781 disease not phenotype-associated
VAR_022782 commonName VAR_022782
VAR_022782 disease not phenotype-associated
VAR_022783 commonName VAR_022783
VAR_022783 disease not phenotype-associated
VAR_022784 commonName VAR_022784
VAR_022784 disease not phenotype-associated
VAR_022786 commonName VAR_022786
VAR_022786 disease not phenotype-associated
VAR_022787 commonName VAR_022787
VAR_022787 disease not phenotype-associated
VAR_022788 commonName VAR_022788
VAR_022788 disease not phenotype-associated
VAR_022789 commonName VAR_022789
VAR_022789 disease not phenotype-associated
VAR_022790 commonName VAR_022790
VAR_022790 disease not phenotype-associated
VAR_022791 commonName VAR_022791
VAR_022791 disease not phenotype-associated
VAR_022792 commonName VAR_022792
VAR_022792 disease not phenotype-associated
VAR_022793 commonName VAR_022793
VAR_022793 disease not phenotype-associated
VAR_022794 commonName VAR_022794
VAR_022794 disease not phenotype-associated
VAR_022795 commonName VAR_022795
VAR_022795 disease not phenotype-associated
VAR_022796 commonName VAR_022796
VAR_022796 disease not phenotype-associated
VAR_022797 commonName VAR_022797
VAR_022797 disease not phenotype-associated
VAR_022798 commonName VAR_022798
VAR_022798 disease not phenotype-associated
VAR_022799 commonName VAR_022799
VAR_022799 disease not phenotype-associated
VAR_022800 commonName VAR_022800
VAR_022800 disease not phenotype-associated
VAR_022801 commonName VAR_022801
VAR_022801 disease not phenotype-associated
VAR_022802 commonName VAR_022802
VAR_022802 disease not phenotype-associated
VAR_022803 commonName VAR_022803
VAR_022803 disease not phenotype-associated
VAR_022804 commonName VAR_022804
VAR_022804 disease not phenotype-associated
VAR_022805 commonName VAR_022805
VAR_022805 disease not phenotype-associated
VAR_022806 commonName VAR_022806
VAR_022806 disease phenotype-associated
VAR_022806 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_022807 commonName VAR_022807
VAR_022807 disease phenotype-associated
VAR_022807 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000]
VAR_022808 commonName VAR_022808
VAR_022808 disease not phenotype-associated
VAR_022809 commonName VAR_022809
VAR_022809 disease not phenotype-associated
VAR_022810 commonName VAR_022810
VAR_022810 disease not phenotype-associated
VAR_022811 commonName VAR_022811
VAR_022811 disease not phenotype-associated
VAR_022812 commonName VAR_022812
VAR_022812 disease not phenotype-associated
VAR_022813 commonName VAR_022813
VAR_022813 disease not phenotype-associated
VAR_022814 commonName VAR_022814
VAR_022814 disease not phenotype-associated
VAR_022815 commonName VAR_022815
VAR_022815 disease phenotype-associated
VAR_022815 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022816 commonName VAR_022816
VAR_022816 disease phenotype-associated
VAR_022816 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022817 commonName VAR_022817
VAR_022817 disease phenotype-associated
VAR_022817 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022818 commonName VAR_022818
VAR_022818 disease phenotype-associated
VAR_022818 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022819 commonName VAR_022819
VAR_022819 disease phenotype-associated
VAR_022819 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022820 commonName VAR_022820
VAR_022820 disease phenotype-associated
VAR_022820 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022821 commonName VAR_022821
VAR_022821 disease phenotype-associated
VAR_022821 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387]
VAR_022822 commonName VAR_022822
VAR_022822 disease phenotype-associated
VAR_022822 phenoCommon Nephronophthisis type 2 (NPHP2) [MIM:602088]
VAR_022823 commonName VAR_022823
VAR_022823 disease phenotype-associated
VAR_022823 phenoCommon Nephronophthisis type 2 (NPHP2) [MIM:602088]
VAR_022824 commonName VAR_022824
VAR_022824 disease not phenotype-associated
VAR_022825 commonName VAR_022825
VAR_022825 disease not phenotype-associated
VAR_022826 commonName VAR_022826
VAR_022826 disease not phenotype-associated
VAR_022827 commonName VAR_022827
VAR_022827 disease not phenotype-associated
VAR_022828 commonName VAR_022828
VAR_022828 disease phenotype-associated
VAR_022828 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022829 commonName VAR_022829
VAR_022829 disease phenotype-associated
VAR_022829 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022830 commonName VAR_022830
VAR_022830 disease phenotype-associated
VAR_022830 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022831 commonName VAR_022831
VAR_022831 disease phenotype-associated
VAR_022831 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022832 commonName VAR_022832
VAR_022832 disease phenotype-associated
VAR_022832 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022833 commonName VAR_022833
VAR_022833 disease phenotype-associated
VAR_022833 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900]
VAR_022834 commonName VAR_022834
VAR_022834 disease not phenotype-associated
VAR_022836 comment A follicular thyroid carcinoma
VAR_022836 commonName VAR_022836
VAR_022837 commonName VAR_022837
VAR_022838 commonName VAR_022838
VAR_022838 disease phenotype-associated
VAR_022838 phenoCommon Thrombocytopenia type 2 (THC2) [MIM:188000]
VAR_022839 commonName VAR_022839
VAR_022839 disease not phenotype-associated
VAR_022840 commonName VAR_022840
VAR_022840 disease not phenotype-associated
VAR_022841 commonName VAR_022841
VAR_022841 disease not phenotype-associated
VAR_022842 commonName VAR_022842
VAR_022842 disease not phenotype-associated
VAR_022849 commonName VAR_022849
VAR_022849 disease not phenotype-associated
VAR_022850 commonName VAR_022850
VAR_022850 disease phenotype-associated
VAR_022850 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]
VAR_022850 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_022851 commonName VAR_022851
VAR_022851 disease phenotype-associated
VAR_022851 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_022852 commonName VAR_022852
VAR_022852 disease phenotype-associated
VAR_022852 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]
VAR_022853 commonName VAR_022853
VAR_022853 disease phenotype-associated
VAR_022853 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_022854 commonName VAR_022854
VAR_022854 disease phenotype-associated
VAR_022854 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_022855 commonName VAR_022855
VAR_022855 disease phenotype-associated
VAR_022855 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_022856 commonName VAR_022856
VAR_022856 disease phenotype-associated
VAR_022856 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_022857 commonName VAR_022857
VAR_022857 disease not phenotype-associated
VAR_022858 commonName VAR_022858
VAR_022858 disease not phenotype-associated
VAR_022859 commonName VAR_022859
VAR_022859 disease not phenotype-associated
VAR_022860 commonName VAR_022860
VAR_022860 disease not phenotype-associated
VAR_022861 commonName VAR_022861
VAR_022861 disease not phenotype-associated
VAR_022862 commonName VAR_022862
VAR_022862 disease not phenotype-associated
VAR_022863 commonName VAR_022863
VAR_022863 disease not phenotype-associated
VAR_022866 commonName VAR_022866
VAR_022866 disease not phenotype-associated
VAR_022867 commonName VAR_022867
VAR_022867 disease phenotype-associated
VAR_022867 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]
VAR_022868 commonName VAR_022868
VAR_022868 disease phenotype-associated
VAR_022868 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]
VAR_022869 commonName VAR_022869
VAR_022869 disease phenotype-associated
VAR_022869 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]
VAR_022870 commonName VAR_022870
VAR_022870 disease not phenotype-associated
VAR_022871 commonName VAR_022871
VAR_022871 disease not phenotype-associated
VAR_022872 commonName VAR_022872
VAR_022872 disease not phenotype-associated
VAR_022873 commonName VAR_022873
VAR_022873 disease not phenotype-associated
VAR_022874 commonName VAR_022874
VAR_022874 disease phenotype-associated
VAR_022874 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
VAR_022884 commonName VAR_022884
VAR_022884 disease not phenotype-associated
VAR_022885 commonName VAR_022885
VAR_022885 disease not phenotype-associated
VAR_022886 commonName VAR_022886
VAR_022886 disease not phenotype-associated
VAR_022887 commonName VAR_022887
VAR_022887 disease not phenotype-associated
VAR_022888 commonName VAR_022888
VAR_022888 disease not phenotype-associated
VAR_022890 commonName VAR_022890
VAR_022890 disease not phenotype-associated
VAR_022893 commonName VAR_022893
VAR_022893 disease not phenotype-associated
VAR_022895 comment A lung cancer patient
VAR_022895 commonName VAR_022895
VAR_022896 comment A colorectal cancer patient
VAR_022896 commonName VAR_022896
VAR_022897 comment A lung cancer patient
VAR_022897 commonName VAR_022897
VAR_022898 comment A colon adenocarcinoma
VAR_022898 commonName VAR_022898
VAR_022899 comment A lung cancer patient
VAR_022899 commonName VAR_022899
VAR_022900 comment A colorectal cancer patient
VAR_022900 commonName VAR_022900
VAR_022912 commonName VAR_022912
VAR_022912 disease not phenotype-associated
VAR_022913 commonName VAR_022913
VAR_022913 disease not phenotype-associated
VAR_022914 commonName VAR_022914
VAR_022914 disease not phenotype-associated
VAR_022915 commonName VAR_022915
VAR_022915 disease phenotype-associated
VAR_022915 phenoCommon Histidinemia (HISTID) [MIM:235800]
VAR_022916 commonName VAR_022916
VAR_022916 disease phenotype-associated
VAR_022916 phenoCommon Histidinemia (HISTID) [MIM:235800]
VAR_022917 commonName VAR_022917
VAR_022917 disease phenotype-associated
VAR_022917 phenoCommon Histidinemia (HISTID) [MIM:235800]
VAR_022918 commonName VAR_022918
VAR_022918 disease phenotype-associated
VAR_022918 phenoCommon Histidinemia (HISTID) [MIM:235800]
VAR_022919 commonName VAR_022919
VAR_022919 disease phenotype-associated
VAR_022919 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254]
VAR_022920 commonName VAR_022920
VAR_022920 disease not phenotype-associated
VAR_022921 commonName VAR_022921
VAR_022921 disease not phenotype-associated
VAR_022922 commonName VAR_022922
VAR_022922 disease not phenotype-associated
VAR_022924 commonName VAR_022924
VAR_022924 disease not phenotype-associated
VAR_022925 commonName VAR_022925
VAR_022925 disease not phenotype-associated
VAR_022926 commonName VAR_022926
VAR_022926 disease not phenotype-associated
VAR_022927 commonName VAR_022927
VAR_022927 disease phenotype-associated
VAR_022927 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_022928 commonName VAR_022928
VAR_022928 disease phenotype-associated
VAR_022928 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_022929 commonName VAR_022929
VAR_022929 disease phenotype-associated
VAR_022929 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_022932 commonName VAR_022932
VAR_022932 disease not phenotype-associated
VAR_022933 commonName VAR_022933
VAR_022933 disease not phenotype-associated
VAR_022939 commonName VAR_022939
VAR_022939 disease not phenotype-associated
VAR_022940 commonName VAR_022940
VAR_022940 disease phenotype-associated
VAR_022940 phenoCommon Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050]
VAR_022941 commonName VAR_022941
VAR_022941 disease phenotype-associated
VAR_022941 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022942 commonName VAR_022942
VAR_022942 disease phenotype-associated
VAR_022942 phenoCommon Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]
VAR_022943 commonName VAR_022943
VAR_022943 disease phenotype-associated
VAR_022943 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022944 commonName VAR_022944
VAR_022945 commonName VAR_022945
VAR_022946 commonName VAR_022946
VAR_022946 disease phenotype-associated
VAR_022946 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022947 commonName VAR_022947
VAR_022947 disease phenotype-associated
VAR_022947 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022948 commonName VAR_022948
VAR_022948 disease phenotype-associated
VAR_022948 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022949 commonName VAR_022949
VAR_022949 disease phenotype-associated
VAR_022949 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022950 commonName VAR_022950
VAR_022950 disease phenotype-associated
VAR_022950 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022951 commonName VAR_022951
VAR_022951 disease phenotype-associated
VAR_022951 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022952 commonName VAR_022952
VAR_022952 disease phenotype-associated
VAR_022952 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022953 commonName VAR_022953
VAR_022953 disease not phenotype-associated
VAR_022954 commonName VAR_022954
VAR_022954 disease phenotype-associated
VAR_022954 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022955 commonName VAR_022955
VAR_022955 disease phenotype-associated
VAR_022955 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022956 commonName VAR_022956
VAR_022956 disease phenotype-associated
VAR_022956 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022958 commonName VAR_022958
VAR_022958 disease not phenotype-associated
VAR_022959 commonName VAR_022959
VAR_022959 disease not phenotype-associated
VAR_022960 commonName VAR_022960
VAR_022960 disease phenotype-associated
VAR_022960 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022961 commonName VAR_022961
VAR_022961 disease phenotype-associated
VAR_022961 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022962 commonName VAR_022962
VAR_022962 disease phenotype-associated
VAR_022962 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022963 commonName VAR_022963
VAR_022963 disease phenotype-associated
VAR_022963 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022963 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_022964 commonName VAR_022964
VAR_022964 disease phenotype-associated
VAR_022964 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_022984 commonName VAR_022984
VAR_022984 disease not phenotype-associated
VAR_022985 commonName VAR_022985
VAR_022985 disease not phenotype-associated
VAR_022986 commonName VAR_022986
VAR_022986 disease not phenotype-associated
VAR_022987 commonName VAR_022987
VAR_022987 disease not phenotype-associated
VAR_022988 commonName VAR_022988
VAR_022988 disease not phenotype-associated
VAR_022989 commonName VAR_022989
VAR_022989 disease not phenotype-associated
VAR_022990 commonName VAR_022990
VAR_022990 disease not phenotype-associated
VAR_022991 commonName VAR_022991
VAR_022991 disease not phenotype-associated
VAR_022992 commonName VAR_022992
VAR_022992 disease not phenotype-associated
VAR_022993 commonName VAR_022993
VAR_022993 disease not phenotype-associated
VAR_022994 commonName VAR_022994
VAR_022994 disease not phenotype-associated
VAR_022996 commonName VAR_022996
VAR_022996 disease not phenotype-associated
VAR_022997 commonName VAR_022997
VAR_022997 disease not phenotype-associated
VAR_022998 commonName VAR_022998
VAR_022998 disease not phenotype-associated
VAR_022999 commonName VAR_022999
VAR_022999 disease not phenotype-associated
VAR_023000 commonName VAR_023000
VAR_023000 disease not phenotype-associated
VAR_023001 commonName VAR_023001
VAR_023001 disease not phenotype-associated
VAR_023002 commonName VAR_023002
VAR_023002 disease not phenotype-associated
VAR_023003 commonName VAR_023003
VAR_023003 disease phenotype-associated
VAR_023003 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_023004 commonName VAR_023004
VAR_023004 disease phenotype-associated
VAR_023004 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_023005 commonName VAR_023005
VAR_023005 disease phenotype-associated
VAR_023005 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_023006 commonName VAR_023006
VAR_023006 disease phenotype-associated
VAR_023006 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_023007 commonName VAR_023007
VAR_023007 disease phenotype-associated
VAR_023007 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_023008 commonName VAR_023008
VAR_023008 disease phenotype-associated
VAR_023008 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_023009 commonName VAR_023009
VAR_023009 disease phenotype-associated
VAR_023009 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_023010 commonName VAR_023010
VAR_023010 disease not phenotype-associated
VAR_023011 commonName VAR_023011
VAR_023011 disease phenotype-associated
VAR_023011 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023012 commonName VAR_023012
VAR_023012 disease phenotype-associated
VAR_023012 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023013 commonName VAR_023013
VAR_023013 disease phenotype-associated
VAR_023013 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023014 commonName VAR_023014
VAR_023014 disease phenotype-associated
VAR_023014 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023015 commonName VAR_023015
VAR_023015 disease phenotype-associated
VAR_023015 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023016 commonName VAR_023016
VAR_023016 disease phenotype-associated
VAR_023016 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023017 commonName VAR_023017
VAR_023017 disease phenotype-associated
VAR_023017 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_023046 commonName VAR_023046
VAR_023046 disease phenotype-associated
VAR_023046 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_023047 commonName VAR_023047
VAR_023047 disease not phenotype-associated
VAR_023048 commonName VAR_023048
VAR_023048 disease not phenotype-associated
VAR_023049 commonName VAR_023049
VAR_023049 disease not phenotype-associated
VAR_023050 commonName VAR_023050
VAR_023050 disease not phenotype-associated
VAR_023051 commonName VAR_023051
VAR_023051 disease not phenotype-associated
VAR_023052 commonName VAR_023052
VAR_023052 disease phenotype-associated
VAR_023052 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_023053 commonName VAR_023053
VAR_023053 disease phenotype-associated
VAR_023053 phenoCommon Monilethrix (MLTRX) [MIM:158000]
VAR_023054 commonName VAR_023054
VAR_023054 disease phenotype-associated
VAR_023054 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023055 commonName VAR_023055
VAR_023055 disease not phenotype-associated
VAR_023056 commonName VAR_023056
VAR_023056 disease phenotype-associated
VAR_023056 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023057 commonName VAR_023057
VAR_023057 disease phenotype-associated
VAR_023057 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023058 commonName VAR_023058
VAR_023058 disease phenotype-associated
VAR_023058 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023059 commonName VAR_023059
VAR_023059 disease phenotype-associated
VAR_023059 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023060 commonName VAR_023060
VAR_023060 disease phenotype-associated
VAR_023060 phenoCommon Cirrhosis (CIRRH) [MIM:215600]
VAR_023061 commonName VAR_023061
VAR_023061 disease not phenotype-associated
VAR_023062 commonName VAR_023062
VAR_023062 disease phenotype-associated
VAR_023062 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_023064 commonName VAR_023064
VAR_023064 disease not phenotype-associated
VAR_023067 commonName VAR_023067
VAR_023067 disease not phenotype-associated
VAR_023068 commonName VAR_023068
VAR_023068 disease not phenotype-associated
VAR_023069 commonName VAR_023069
VAR_023069 disease not phenotype-associated
VAR_023070 commonName VAR_023070
VAR_023070 disease not phenotype-associated
VAR_023073 commonName VAR_023073
VAR_023073 disease not phenotype-associated
VAR_023074 commonName VAR_023074
VAR_023074 disease not phenotype-associated
VAR_023075 commonName VAR_023075
VAR_023075 disease not phenotype-associated
VAR_023076 commonName VAR_023076
VAR_023076 disease not phenotype-associated
VAR_023077 commonName VAR_023077
VAR_023077 disease phenotype-associated
VAR_023077 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_023078 commonName VAR_023078
VAR_023079 commonName VAR_023079
VAR_023080 commonName VAR_023080
VAR_023080 disease not phenotype-associated
VAR_023082 commonName VAR_023082
VAR_023082 disease not phenotype-associated
VAR_023083 commonName VAR_023083
VAR_023083 disease not phenotype-associated
VAR_023084 commonName VAR_023084
VAR_023084 disease phenotype-associated
VAR_023084 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023085 commonName VAR_023085
VAR_023085 disease phenotype-associated
VAR_023085 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023086 commonName VAR_023086
VAR_023086 disease phenotype-associated
VAR_023086 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023087 commonName VAR_023087
VAR_023087 disease phenotype-associated
VAR_023087 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023088 commonName VAR_023088
VAR_023088 disease phenotype-associated
VAR_023088 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023089 commonName VAR_023089
VAR_023089 disease phenotype-associated
VAR_023089 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023090 commonName VAR_023090
VAR_023090 disease phenotype-associated
VAR_023090 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023091 commonName VAR_023091
VAR_023091 disease phenotype-associated
VAR_023091 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
VAR_023092 commonName VAR_023092
VAR_023092 disease not phenotype-associated
VAR_023093 commonName VAR_023093
VAR_023093 disease not phenotype-associated
VAR_023094 commonName VAR_023094
VAR_023094 disease not phenotype-associated
VAR_023095 commonName VAR_023095
VAR_023095 disease not phenotype-associated
VAR_023096 commonName VAR_023096
VAR_023096 disease not phenotype-associated
VAR_023097 commonName VAR_023097
VAR_023097 disease not phenotype-associated
VAR_023098 commonName VAR_023098
VAR_023098 disease not phenotype-associated
VAR_023099 commonName VAR_023099
VAR_023099 disease not phenotype-associated
VAR_023100 commonName VAR_023100
VAR_023100 disease not phenotype-associated
VAR_023101 commonName VAR_023101
VAR_023101 disease phenotype-associated
VAR_023101 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023102 commonName VAR_023102
VAR_023103 commonName VAR_023103
VAR_023103 disease phenotype-associated
VAR_023103 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023104 commonName VAR_023104
VAR_023104 disease phenotype-associated
VAR_023104 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023104 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151]
VAR_023105 commonName VAR_023105
VAR_023105 disease phenotype-associated
VAR_023105 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023106 commonName VAR_023106
VAR_023106 disease phenotype-associated
VAR_023106 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023107 commonName VAR_023107
VAR_023107 disease phenotype-associated
VAR_023107 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023107 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151]
VAR_023108 commonName VAR_023108
VAR_023108 disease phenotype-associated
VAR_023108 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_023111 commonName VAR_023111
VAR_023111 disease not phenotype-associated
VAR_023112 commonName VAR_023112
VAR_023112 disease not phenotype-associated
VAR_023113 commonName VAR_023113
VAR_023113 disease not phenotype-associated
VAR_023114 commonName VAR_023114
VAR_023114 disease not phenotype-associated
VAR_023115 commonName VAR_023115
VAR_023115 disease not phenotype-associated
VAR_023116 commonName VAR_023116
VAR_023116 disease not phenotype-associated
VAR_023117 commonName VAR_023117
VAR_023117 disease not phenotype-associated
VAR_023118 commonName VAR_023118
VAR_023118 disease not phenotype-associated
VAR_023119 commonName VAR_023119
VAR_023119 disease not phenotype-associated
VAR_023120 commonName VAR_023120
VAR_023120 disease not phenotype-associated
VAR_023121 commonName VAR_023121
VAR_023121 disease not phenotype-associated
VAR_023122 commonName VAR_023122
VAR_023122 disease not phenotype-associated
VAR_023123 commonName VAR_023123
VAR_023123 disease not phenotype-associated
VAR_023126 commonName VAR_023126
VAR_023126 disease not phenotype-associated
VAR_023127 commonName VAR_023127
VAR_023127 disease phenotype-associated
VAR_023127 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023128 commonName VAR_023128
VAR_023128 disease phenotype-associated
VAR_023128 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023129 commonName VAR_023129
VAR_023129 disease phenotype-associated
VAR_023129 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023130 commonName VAR_023130
VAR_023130 disease phenotype-associated
VAR_023130 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023131 commonName VAR_023131
VAR_023131 disease phenotype-associated
VAR_023131 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023132 commonName VAR_023132
VAR_023132 disease phenotype-associated
VAR_023132 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023133 commonName VAR_023133
VAR_023133 disease phenotype-associated
VAR_023133 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023134 commonName VAR_023134
VAR_023134 disease phenotype-associated
VAR_023134 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023135 commonName VAR_023135
VAR_023135 disease phenotype-associated
VAR_023135 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023136 commonName VAR_023136
VAR_023136 disease phenotype-associated
VAR_023136 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023137 commonName VAR_023137
VAR_023137 disease phenotype-associated
VAR_023137 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023138 commonName VAR_023138
VAR_023138 disease phenotype-associated
VAR_023138 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023139 commonName VAR_023139
VAR_023139 disease phenotype-associated
VAR_023139 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023140 commonName VAR_023140
VAR_023140 disease phenotype-associated
VAR_023140 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023141 commonName VAR_023141
VAR_023141 disease phenotype-associated
VAR_023141 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023142 commonName VAR_023142
VAR_023142 disease not phenotype-associated
VAR_023143 commonName VAR_023143
VAR_023143 disease phenotype-associated
VAR_023143 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023144 commonName VAR_023144
VAR_023144 disease phenotype-associated
VAR_023144 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023145 commonName VAR_023145
VAR_023145 disease phenotype-associated
VAR_023145 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023146 commonName VAR_023146
VAR_023146 disease phenotype-associated
VAR_023146 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110]
VAR_023147 commonName VAR_023147
VAR_023147 disease not phenotype-associated
VAR_023148 commonName VAR_023148
VAR_023148 disease phenotype-associated
VAR_023148 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023149 commonName VAR_023149
VAR_023149 disease phenotype-associated
VAR_023149 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023150 commonName VAR_023150
VAR_023150 disease phenotype-associated
VAR_023150 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023151 commonName VAR_023151
VAR_023151 disease phenotype-associated
VAR_023151 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023152 commonName VAR_023152
VAR_023152 disease phenotype-associated
VAR_023152 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023153 commonName VAR_023153
VAR_023153 disease phenotype-associated
VAR_023153 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023154 commonName VAR_023154
VAR_023154 disease phenotype-associated
VAR_023154 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023155 commonName VAR_023155
VAR_023155 disease phenotype-associated
VAR_023155 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023156 commonName VAR_023156
VAR_023156 disease phenotype-associated
VAR_023156 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023157 commonName VAR_023157
VAR_023157 disease phenotype-associated
VAR_023157 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023158 commonName VAR_023158
VAR_023158 disease phenotype-associated
VAR_023158 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023159 commonName VAR_023159
VAR_023159 disease phenotype-associated
VAR_023159 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023160 commonName VAR_023160
VAR_023160 disease phenotype-associated
VAR_023160 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023161 commonName VAR_023161
VAR_023161 disease phenotype-associated
VAR_023161 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023162 commonName VAR_023162
VAR_023162 disease phenotype-associated
VAR_023162 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023163 commonName VAR_023163
VAR_023163 disease phenotype-associated
VAR_023163 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023164 commonName VAR_023164
VAR_023164 disease phenotype-associated
VAR_023164 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023165 commonName VAR_023165
VAR_023165 disease phenotype-associated
VAR_023165 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023166 commonName VAR_023166
VAR_023166 disease phenotype-associated
VAR_023166 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023167 commonName VAR_023167
VAR_023167 disease phenotype-associated
VAR_023167 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023168 commonName VAR_023168
VAR_023168 disease phenotype-associated
VAR_023168 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023169 commonName VAR_023169
VAR_023169 disease phenotype-associated
VAR_023169 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023170 commonName VAR_023170
VAR_023170 disease phenotype-associated
VAR_023170 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023171 commonName VAR_023171
VAR_023171 disease phenotype-associated
VAR_023171 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023172 commonName VAR_023172
VAR_023172 disease phenotype-associated
VAR_023172 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023173 commonName VAR_023173
VAR_023173 disease phenotype-associated
VAR_023173 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023174 commonName VAR_023174
VAR_023174 disease phenotype-associated
VAR_023174 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023175 commonName VAR_023175
VAR_023175 disease phenotype-associated
VAR_023175 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023176 commonName VAR_023176
VAR_023176 disease phenotype-associated
VAR_023176 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023177 commonName VAR_023177
VAR_023177 disease phenotype-associated
VAR_023177 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023178 commonName VAR_023178
VAR_023178 disease phenotype-associated
VAR_023178 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023179 commonName VAR_023179
VAR_023179 disease phenotype-associated
VAR_023179 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023180 commonName VAR_023180
VAR_023180 disease phenotype-associated
VAR_023180 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023181 commonName VAR_023181
VAR_023181 disease phenotype-associated
VAR_023181 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023182 commonName VAR_023182
VAR_023182 disease phenotype-associated
VAR_023182 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023183 commonName VAR_023183
VAR_023183 disease phenotype-associated
VAR_023183 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023184 commonName VAR_023184
VAR_023184 disease phenotype-associated
VAR_023184 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023185 commonName VAR_023185
VAR_023185 disease phenotype-associated
VAR_023185 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
VAR_023186 commonName VAR_023186
VAR_023186 disease not phenotype-associated
VAR_023187 commonName VAR_023187
VAR_023187 disease not phenotype-associated
VAR_023188 commonName VAR_023188
VAR_023188 disease phenotype-associated
VAR_023188 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_023189 commonName VAR_023189
VAR_023189 disease phenotype-associated
VAR_023189 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_023190 commonName VAR_023190
VAR_023190 disease not phenotype-associated
VAR_023191 commonName VAR_023191
VAR_023191 disease phenotype-associated
VAR_023191 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_023192 commonName VAR_023192
VAR_023192 disease phenotype-associated
VAR_023192 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_023193 commonName VAR_023193
VAR_023193 disease phenotype-associated
VAR_023193 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
VAR_023194 commonName VAR_023194
VAR_023194 disease not phenotype-associated
VAR_023195 commonName VAR_023195
VAR_023195 disease not phenotype-associated
VAR_023197 commonName VAR_023197
VAR_023197 disease not phenotype-associated
VAR_023198 commonName VAR_023198
VAR_023198 disease not phenotype-associated
VAR_023199 commonName VAR_023199
VAR_023199 disease not phenotype-associated
VAR_023200 commonName VAR_023200
VAR_023200 disease not phenotype-associated
VAR_023201 commonName VAR_023201
VAR_023201 disease phenotype-associated
VAR_023201 phenoCommon Fraser syndrome (FRASS) [MIM:219000]
VAR_023202 commonName VAR_023202
VAR_023202 disease not phenotype-associated
VAR_023203 commonName VAR_023203
VAR_023203 disease not phenotype-associated
VAR_023204 commonName VAR_023204
VAR_023204 disease not phenotype-associated
VAR_023205 commonName VAR_023205
VAR_023205 disease not phenotype-associated
VAR_023206 commonName VAR_023206
VAR_023206 disease not phenotype-associated
VAR_023207 commonName VAR_023207
VAR_023207 disease not phenotype-associated
VAR_023210 commonName VAR_023210
VAR_023210 disease not phenotype-associated
VAR_023211 commonName VAR_023211
VAR_023211 disease not phenotype-associated
VAR_023212 commonName VAR_023212
VAR_023212 disease not phenotype-associated
VAR_023213 commonName VAR_023213
VAR_023213 disease not phenotype-associated
VAR_023214 commonName VAR_023214
VAR_023214 disease not phenotype-associated
VAR_023229 commonName VAR_023229
VAR_023229 disease not phenotype-associated
VAR_023230 commonName VAR_023230
VAR_023230 disease not phenotype-associated
VAR_023232 commonName VAR_023232
VAR_023232 disease not phenotype-associated
VAR_023233 commonName VAR_023233
VAR_023233 disease not phenotype-associated
VAR_023234 commonName VAR_023234
VAR_023234 disease not phenotype-associated
VAR_023235 commonName VAR_023235
VAR_023235 disease not phenotype-associated
VAR_023236 commonName VAR_023236
VAR_023236 disease not phenotype-associated
VAR_023237 commonName VAR_023237
VAR_023237 disease not phenotype-associated
VAR_023238 commonName VAR_023238
VAR_023238 disease not phenotype-associated
VAR_023239 commonName VAR_023239
VAR_023239 disease not phenotype-associated
VAR_023240 commonName VAR_023240
VAR_023240 disease not phenotype-associated
VAR_023242 commonName VAR_023242
VAR_023242 disease not phenotype-associated
VAR_023243 commonName VAR_023243
VAR_023243 disease not phenotype-associated
VAR_023244 commonName VAR_023244
VAR_023244 disease not phenotype-associated
VAR_023245 commonName VAR_023245
VAR_023245 disease not phenotype-associated
VAR_023246 commonName VAR_023246
VAR_023246 disease not phenotype-associated
VAR_023247 commonName VAR_023247
VAR_023247 disease not phenotype-associated
VAR_023248 commonName VAR_023248
VAR_023248 disease not phenotype-associated
VAR_023256 commonName VAR_023256
VAR_023256 disease not phenotype-associated
VAR_023257 commonName VAR_023257
VAR_023257 disease not phenotype-associated
VAR_023258 commonName VAR_023258
VAR_023258 disease not phenotype-associated
VAR_023259 commonName VAR_023259
VAR_023259 disease not phenotype-associated
VAR_023260 commonName VAR_023260
VAR_023260 disease not phenotype-associated
VAR_023261 commonName VAR_023261
VAR_023261 disease phenotype-associated
VAR_023261 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023262 commonName VAR_023262
VAR_023262 disease phenotype-associated
VAR_023262 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023263 commonName VAR_023263
VAR_023263 disease phenotype-associated
VAR_023263 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023264 commonName VAR_023264
VAR_023264 disease phenotype-associated
VAR_023264 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023265 commonName VAR_023265
VAR_023265 disease phenotype-associated
VAR_023265 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023266 commonName VAR_023266
VAR_023266 disease phenotype-associated
VAR_023266 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023267 commonName VAR_023267
VAR_023267 disease phenotype-associated
VAR_023267 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023268 commonName VAR_023268
VAR_023268 disease phenotype-associated
VAR_023268 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023269 commonName VAR_023269
VAR_023269 disease phenotype-associated
VAR_023269 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023270 commonName VAR_023270
VAR_023270 disease phenotype-associated
VAR_023270 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023271 commonName VAR_023271
VAR_023271 disease phenotype-associated
VAR_023271 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023272 commonName VAR_023272
VAR_023272 disease phenotype-associated
VAR_023272 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023273 commonName VAR_023273
VAR_023273 disease phenotype-associated
VAR_023273 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023274 commonName VAR_023274
VAR_023274 disease phenotype-associated
VAR_023274 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023275 commonName VAR_023275
VAR_023275 disease phenotype-associated
VAR_023275 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023276 commonName VAR_023276
VAR_023276 disease phenotype-associated
VAR_023276 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023277 commonName VAR_023277
VAR_023277 disease phenotype-associated
VAR_023277 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023278 commonName VAR_023278
VAR_023278 disease phenotype-associated
VAR_023278 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023279 commonName VAR_023279
VAR_023279 disease phenotype-associated
VAR_023279 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023280 commonName VAR_023280
VAR_023280 disease phenotype-associated
VAR_023280 phenoCommon Menkes disease (MNKD) [MIM:309400]
VAR_023281 commonName VAR_023281
VAR_023281 disease phenotype-associated
VAR_023281 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_023283 commonName VAR_023283
VAR_023283 disease not phenotype-associated
VAR_023284 commonName VAR_023284
VAR_023284 disease not phenotype-associated
VAR_023285 commonName VAR_023285
VAR_023285 disease not phenotype-associated
VAR_023286 commonName VAR_023286
VAR_023286 disease not phenotype-associated
VAR_023287 commonName VAR_023287
VAR_023287 disease not phenotype-associated
VAR_023288 commonName VAR_023288
VAR_023288 disease not phenotype-associated
VAR_023289 commonName VAR_023289
VAR_023289 disease not phenotype-associated
VAR_023290 commonName VAR_023290
VAR_023290 disease not phenotype-associated
VAR_023291 commonName VAR_023291
VAR_023291 disease not phenotype-associated
VAR_023292 commonName VAR_023292
VAR_023292 disease not phenotype-associated
VAR_023293 commonName VAR_023293
VAR_023293 disease not phenotype-associated
VAR_023295 commonName VAR_023295
VAR_023295 disease not phenotype-associated
VAR_023296 commonName VAR_023296
VAR_023296 disease not phenotype-associated
VAR_023297 commonName VAR_023297
VAR_023297 disease not phenotype-associated
VAR_023299 commonName VAR_023299
VAR_023299 disease not phenotype-associated
VAR_023300 commonName VAR_023300
VAR_023300 disease not phenotype-associated
VAR_023301 commonName VAR_023301
VAR_023301 disease not phenotype-associated
VAR_023303 commonName VAR_023303
VAR_023303 disease not phenotype-associated
VAR_023304 commonName VAR_023304
VAR_023304 disease not phenotype-associated
VAR_023305 commonName VAR_023305
VAR_023305 disease not phenotype-associated
VAR_023306 commonName VAR_023306
VAR_023306 disease not phenotype-associated
VAR_023307 commonName VAR_023307
VAR_023307 disease not phenotype-associated
VAR_023308 commonName VAR_023308
VAR_023308 disease not phenotype-associated
VAR_023309 commonName VAR_023309
VAR_023309 disease not phenotype-associated
VAR_023310 commonName VAR_023310
VAR_023310 disease not phenotype-associated
VAR_023311 commonName VAR_023311
VAR_023311 disease not phenotype-associated
VAR_023312 commonName VAR_023312
VAR_023312 disease not phenotype-associated
VAR_023313 commonName VAR_023313
VAR_023313 disease not phenotype-associated
VAR_023314 commonName VAR_023314
VAR_023314 disease phenotype-associated
VAR_023314 phenoCommon Hartnup disorder (HND) [MIM:234500]
VAR_023315 commonName VAR_023315
VAR_023315 disease phenotype-associated
VAR_023315 phenoCommon Hartnup disorder (HND) [MIM:234500]
VAR_023316 commonName VAR_023316
VAR_023316 disease not phenotype-associated
VAR_023317 commonName VAR_023317
VAR_023317 disease phenotype-associated
VAR_023317 phenoCommon Hartnup disorder (HND) [MIM:234500]
VAR_023318 commonName VAR_023318
VAR_023318 disease not phenotype-associated
VAR_023319 commonName VAR_023319
VAR_023319 disease phenotype-associated
VAR_023319 phenoCommon Hartnup disorder (HND) [MIM:234500]
VAR_023320 commonName VAR_023320
VAR_023320 disease phenotype-associated
VAR_023320 phenoCommon Autosomal recessive hypercholesterolemia (ARH) [MIM:603813]
VAR_023324 commonName VAR_023324
VAR_023324 disease not phenotype-associated
VAR_023325 commonName VAR_023325
VAR_023325 disease not phenotype-associated
VAR_023326 commonName VAR_023326
VAR_023326 disease not phenotype-associated
VAR_023327 commonName VAR_023327
VAR_023327 disease not phenotype-associated
VAR_023328 commonName VAR_023328
VAR_023328 disease phenotype-associated
VAR_023328 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_023329 commonName VAR_023329
VAR_023329 disease phenotype-associated
VAR_023329 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_023330 commonName VAR_023330
VAR_023330 disease phenotype-associated
VAR_023330 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_023331 commonName VAR_023331
VAR_023331 disease phenotype-associated
VAR_023331 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_023334 commonName VAR_023334
VAR_023334 disease not phenotype-associated
VAR_023335 commonName VAR_023335
VAR_023335 disease not phenotype-associated
VAR_023336 commonName VAR_023336
VAR_023336 disease not phenotype-associated
VAR_023337 commonName VAR_023337
VAR_023337 disease not phenotype-associated
VAR_023338 commonName VAR_023338
VAR_023338 disease not phenotype-associated
VAR_023339 commonName VAR_023339
VAR_023339 disease not phenotype-associated
VAR_023340 commonName VAR_023340
VAR_023340 disease not phenotype-associated
VAR_023341 commonName VAR_023341
VAR_023341 disease not phenotype-associated
VAR_023342 commonName VAR_023342
VAR_023342 disease not phenotype-associated
VAR_023343 commonName VAR_023343
VAR_023343 disease not phenotype-associated
VAR_023344 commonName VAR_023344
VAR_023344 disease not phenotype-associated
VAR_023345 commonName VAR_023345
VAR_023345 disease not phenotype-associated
VAR_023346 commonName VAR_023346
VAR_023346 disease not phenotype-associated
VAR_023347 commonName VAR_023347
VAR_023347 disease not phenotype-associated
VAR_023348 commonName VAR_023348
VAR_023348 disease not phenotype-associated
VAR_023349 commonName VAR_023349
VAR_023349 disease not phenotype-associated
VAR_023350 commonName VAR_023350
VAR_023350 disease not phenotype-associated
VAR_023351 commonName VAR_023351
VAR_023351 disease not phenotype-associated
VAR_023352 commonName VAR_023352
VAR_023352 disease not phenotype-associated
VAR_023353 commonName VAR_023353
VAR_023353 disease not phenotype-associated
VAR_023354 commonName VAR_023354
VAR_023354 disease not phenotype-associated
VAR_023355 commonName VAR_023355
VAR_023355 disease not phenotype-associated
VAR_023356 commonName VAR_023356
VAR_023356 disease not phenotype-associated
VAR_023357 commonName VAR_023357
VAR_023357 disease not phenotype-associated
VAR_023358 commonName VAR_023358
VAR_023358 disease phenotype-associated
VAR_023358 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
VAR_023359 commonName VAR_023359
VAR_023359 disease not phenotype-associated
VAR_023360 commonName VAR_023360
VAR_023360 disease not phenotype-associated
VAR_023361 commonName VAR_023361
VAR_023361 disease not phenotype-associated
VAR_023362 commonName VAR_023362
VAR_023362 disease not phenotype-associated
VAR_023363 commonName VAR_023363
VAR_023363 disease not phenotype-associated
VAR_023364 commonName VAR_023364
VAR_023364 disease phenotype-associated
VAR_023364 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
VAR_023365 commonName VAR_023365
VAR_023365 disease phenotype-associated
VAR_023365 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
VAR_023366 commonName VAR_023366
VAR_023366 disease phenotype-associated
VAR_023366 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
VAR_023368 commonName VAR_023368
VAR_023368 disease not phenotype-associated
VAR_023371 commonName VAR_023371
VAR_023371 disease not phenotype-associated
VAR_023372 commonName VAR_023372
VAR_023372 disease not phenotype-associated
VAR_023373 commonName VAR_023373
VAR_023373 disease not phenotype-associated
VAR_023374 commonName VAR_023374
VAR_023374 disease not phenotype-associated
VAR_023375 commonName VAR_023375
VAR_023375 disease not phenotype-associated
VAR_023376 commonName VAR_023376
VAR_023376 disease not phenotype-associated
VAR_023377 commonName VAR_023377
VAR_023377 disease not phenotype-associated
VAR_023378 commonName VAR_023378
VAR_023378 disease not phenotype-associated
VAR_023379 commonName VAR_023379
VAR_023379 disease not phenotype-associated
VAR_023380 commonName VAR_023380
VAR_023380 disease not phenotype-associated
VAR_023381 commonName VAR_023381
VAR_023381 disease not phenotype-associated
VAR_023382 commonName VAR_023382
VAR_023382 disease not phenotype-associated
VAR_023383 commonName VAR_023383
VAR_023383 disease phenotype-associated
VAR_023383 phenoCommon Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]
VAR_023385 commonName VAR_023385
VAR_023385 disease not phenotype-associated
VAR_023386 commonName VAR_023386
VAR_023386 disease phenotype-associated
VAR_023386 phenoCommon Mitochondrial complex V deficiency nuclear type 1 (MC5DN1) [MIM:604273]
VAR_023387 commonName VAR_023387
VAR_023387 disease phenotype-associated
VAR_023387 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630]
VAR_023388 commonName VAR_023388
VAR_023388 disease phenotype-associated
VAR_023388 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630]
VAR_023389 commonName VAR_023389
VAR_023389 disease phenotype-associated
VAR_023389 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630]
VAR_023390 commonName VAR_023390
VAR_023390 disease not phenotype-associated
VAR_023391 commonName VAR_023391
VAR_023391 disease phenotype-associated
VAR_023391 phenoCommon Joubert syndrome type 3 (JBTS3) [MIM:608629]
VAR_023392 commonName VAR_023392
VAR_023392 disease not phenotype-associated
VAR_023393 commonName VAR_023393
VAR_023393 disease not phenotype-associated
VAR_023395 commonName VAR_023395
VAR_023395 disease phenotype-associated
VAR_023395 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473]
VAR_023396 commonName VAR_023396
VAR_023396 disease phenotype-associated
VAR_023396 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473]
VAR_023397 commonName VAR_023397
VAR_023397 disease phenotype-associated
VAR_023397 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473]
VAR_023398 commonName VAR_023398
VAR_023398 disease phenotype-associated
VAR_023398 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473]
VAR_023399 commonName VAR_023399
VAR_023399 disease not phenotype-associated
VAR_023400 commonName VAR_023400
VAR_023400 disease not phenotype-associated
VAR_023401 commonName VAR_023401
VAR_023401 disease not phenotype-associated
VAR_023402 commonName VAR_023402
VAR_023402 disease not phenotype-associated
VAR_023404 commonName VAR_023404
VAR_023404 disease not phenotype-associated
VAR_023405 commonName VAR_023405
VAR_023405 disease not phenotype-associated
VAR_023410 commonName VAR_023410
VAR_023410 disease phenotype-associated
VAR_023410 phenoCommon Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]
VAR_023411 commonName VAR_023411
VAR_023411 disease not phenotype-associated
VAR_023414 commonName VAR_023414
VAR_023414 disease not phenotype-associated
VAR_023415 commonName VAR_023415
VAR_023415 disease not phenotype-associated
VAR_023416 commonName VAR_023416
VAR_023416 disease not phenotype-associated
VAR_023417 commonName VAR_023417
VAR_023417 disease not phenotype-associated
VAR_023418 commonName VAR_023418
VAR_023418 disease not phenotype-associated
VAR_023419 commonName VAR_023419
VAR_023419 disease not phenotype-associated
VAR_023420 commonName VAR_023420
VAR_023420 disease not phenotype-associated
VAR_023421 commonName VAR_023421
VAR_023421 disease not phenotype-associated
VAR_023422 commonName VAR_023422
VAR_023422 disease not phenotype-associated
VAR_023423 commonName VAR_023423
VAR_023423 disease not phenotype-associated
VAR_023424 commonName VAR_023424
VAR_023424 disease not phenotype-associated
VAR_023425 commonName VAR_023425
VAR_023425 disease not phenotype-associated
VAR_023428 commonName VAR_023428
VAR_023428 disease not phenotype-associated
VAR_023429 commonName VAR_023429
VAR_023429 disease not phenotype-associated
VAR_023430 commonName VAR_023430
VAR_023430 disease not phenotype-associated
VAR_023431 commonName VAR_023431
VAR_023431 disease not phenotype-associated
VAR_023432 commonName VAR_023432
VAR_023432 disease not phenotype-associated
VAR_023433 commonName VAR_023433
VAR_023433 disease not phenotype-associated
VAR_023434 commonName VAR_023434
VAR_023438 commonName VAR_023438
VAR_023438 disease not phenotype-associated
VAR_023439 commonName VAR_023439
VAR_023439 disease not phenotype-associated
VAR_023440 commonName VAR_023440
VAR_023440 disease phenotype-associated
VAR_023440 phenoCommon Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]
VAR_023441 commonName VAR_023441
VAR_023441 disease phenotype-associated
VAR_023441 phenoCommon Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]
VAR_023442 commonName VAR_023442
VAR_023442 disease not phenotype-associated
VAR_023443 commonName VAR_023443
VAR_023443 disease not phenotype-associated
VAR_023444 commonName VAR_023444
VAR_023444 disease phenotype-associated
VAR_023444 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_023445 commonName VAR_023445
VAR_023445 disease phenotype-associated
VAR_023445 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_023446 commonName VAR_023446
VAR_023446 disease phenotype-associated
VAR_023446 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_023447 commonName VAR_023447
VAR_023447 disease phenotype-associated
VAR_023447 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]
VAR_023448 commonName VAR_023448
VAR_023448 disease not phenotype-associated
VAR_023449 commonName VAR_023449
VAR_023449 disease not phenotype-associated
VAR_023450 commonName VAR_023450
VAR_023450 disease not phenotype-associated
VAR_023451 commonName VAR_023451
VAR_023451 disease not phenotype-associated
VAR_023452 commonName VAR_023452
VAR_023452 disease not phenotype-associated
VAR_023453 commonName VAR_023453
VAR_023453 disease not phenotype-associated
VAR_023454 commonName VAR_023454
VAR_023454 disease not phenotype-associated
VAR_023455 commonName VAR_023455
VAR_023455 disease not phenotype-associated
VAR_023456 commonName VAR_023456
VAR_023456 disease not phenotype-associated
VAR_023457 commonName VAR_023457
VAR_023457 disease not phenotype-associated
VAR_023459 commonName VAR_023459
VAR_023459 disease not phenotype-associated
VAR_023460 commonName VAR_023460
VAR_023460 disease not phenotype-associated
VAR_023461 commonName VAR_023461
VAR_023461 disease not phenotype-associated
VAR_023462 commonName VAR_023462
VAR_023462 disease not phenotype-associated
VAR_023463 commonName VAR_023463
VAR_023463 disease not phenotype-associated
VAR_023464 commonName VAR_023464
VAR_023464 disease not phenotype-associated
VAR_023465 commonName VAR_023465
VAR_023465 disease not phenotype-associated
VAR_023466 commonName VAR_023466
VAR_023466 disease phenotype-associated
VAR_023466 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]
VAR_023467 commonName VAR_023467
VAR_023467 disease phenotype-associated
VAR_023467 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]
VAR_023468 commonName VAR_023468
VAR_023468 disease phenotype-associated
VAR_023468 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]
VAR_023469 commonName VAR_023469
VAR_023469 disease not phenotype-associated
VAR_023470 commonName VAR_023470
VAR_023470 disease not phenotype-associated
VAR_023471 commonName VAR_023471
VAR_023471 disease phenotype-associated
VAR_023471 phenoCommon Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
VAR_023472 commonName VAR_023472
VAR_023472 disease not phenotype-associated
VAR_023473 commonName VAR_023473
VAR_023473 disease phenotype-associated
VAR_023473 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_023474 commonName VAR_023474
VAR_023474 disease phenotype-associated
VAR_023474 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_023475 commonName VAR_023475
VAR_023475 disease phenotype-associated
VAR_023475 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_023476 commonName VAR_023476
VAR_023476 disease phenotype-associated
VAR_023476 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_023477 commonName VAR_023477
VAR_023477 disease phenotype-associated
VAR_023477 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_023478 commonName VAR_023478
VAR_023478 disease not phenotype-associated
VAR_023479 commonName VAR_023479
VAR_023479 disease not phenotype-associated
VAR_023480 commonName VAR_023480
VAR_023480 disease phenotype-associated
VAR_023480 phenoCommon Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
VAR_023481 commonName VAR_023481
VAR_023481 disease not phenotype-associated
VAR_023482 commonName VAR_023482
VAR_023482 disease phenotype-associated
VAR_023482 phenoCommon Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
VAR_023483 commonName VAR_023483
VAR_023483 disease not phenotype-associated
VAR_023484 commonName VAR_023484
VAR_023484 disease not phenotype-associated
VAR_023485 commonName VAR_023485
VAR_023485 disease not phenotype-associated
VAR_023486 commonName VAR_023486
VAR_023486 disease phenotype-associated
VAR_023486 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023487 commonName VAR_023487
VAR_023487 disease phenotype-associated
VAR_023487 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023488 commonName VAR_023488
VAR_023488 disease phenotype-associated
VAR_023488 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023489 commonName VAR_023489
VAR_023489 disease not phenotype-associated
VAR_023490 commonName VAR_023490
VAR_023490 disease phenotype-associated
VAR_023490 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023491 commonName VAR_023491
VAR_023491 disease not phenotype-associated
VAR_023492 commonName VAR_023492
VAR_023492 disease phenotype-associated
VAR_023492 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023493 commonName VAR_023493
VAR_023493 disease not phenotype-associated
VAR_023494 commonName VAR_023494
VAR_023494 disease phenotype-associated
VAR_023494 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023495 commonName VAR_023495
VAR_023495 disease phenotype-associated
VAR_023495 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023496 commonName VAR_023496
VAR_023496 disease phenotype-associated
VAR_023496 phenoCommon Galactosemia II (GALCT2) [MIM:230200]
VAR_023497 commonName VAR_023497
VAR_023497 disease phenotype-associated
VAR_023497 phenoCommon Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
VAR_023498 commonName VAR_023498
VAR_023498 disease phenotype-associated
VAR_023498 phenoCommon Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
VAR_023501 commonName VAR_023501
VAR_023501 disease not phenotype-associated
VAR_023502 commonName VAR_023502
VAR_023502 disease phenotype-associated
VAR_023502 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_023502 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_023503 commonName VAR_023503
VAR_023503 disease phenotype-associated
VAR_023503 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_023504 commonName VAR_023504
VAR_023504 disease phenotype-associated
VAR_023504 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_023505 commonName VAR_023505
VAR_023505 disease phenotype-associated
VAR_023505 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023506 commonName VAR_023506
VAR_023506 disease phenotype-associated
VAR_023506 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023507 commonName VAR_023507
VAR_023507 disease phenotype-associated
VAR_023507 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023508 commonName VAR_023508
VAR_023508 disease phenotype-associated
VAR_023508 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023509 commonName VAR_023509
VAR_023509 disease phenotype-associated
VAR_023509 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023510 commonName VAR_023510
VAR_023510 disease phenotype-associated
VAR_023510 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]
VAR_023511 commonName VAR_023511
VAR_023511 disease phenotype-associated
VAR_023511 phenoCommon P5N deficiency (P5ND) [MIM:266120]
VAR_023512 commonName VAR_023512
VAR_023512 disease phenotype-associated
VAR_023512 phenoCommon P5N deficiency (P5ND) [MIM:266120]
VAR_023513 commonName VAR_023513
VAR_023513 disease phenotype-associated
VAR_023513 phenoCommon P5N deficiency (P5ND) [MIM:266120]
VAR_023514 commonName VAR_023514
VAR_023514 disease phenotype-associated
VAR_023514 phenoCommon P5N deficiency (P5ND) [MIM:266120]
VAR_023515 commonName VAR_023515
VAR_023515 disease not phenotype-associated
VAR_023516 commonName VAR_023516
VAR_023516 disease not phenotype-associated
VAR_023517 commonName VAR_023517
VAR_023517 disease not phenotype-associated
VAR_023518 commonName VAR_023518
VAR_023518 disease not phenotype-associated
VAR_023519 commonName VAR_023519
VAR_023519 disease not phenotype-associated
VAR_023520 commonName VAR_023520
VAR_023520 disease not phenotype-associated
VAR_023521 commonName VAR_023521
VAR_023521 disease not phenotype-associated
VAR_023522 commonName VAR_023522
VAR_023522 disease phenotype-associated
VAR_023522 phenoCommon PAPA syndrome (PAPAS) [MIM:604416]
VAR_023523 commonName VAR_023523
VAR_023523 disease phenotype-associated
VAR_023523 phenoCommon PAPA syndrome (PAPAS) [MIM:604416]
VAR_023524 commonName VAR_023524
VAR_023524 disease phenotype-associated
VAR_023524 phenoCommon Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
VAR_023525 commonName VAR_023525
VAR_023525 disease phenotype-associated
VAR_023525 phenoCommon Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
VAR_023526 commonName VAR_023526
VAR_023526 disease not phenotype-associated
VAR_023527 commonName VAR_023527
VAR_023527 disease not phenotype-associated
VAR_023528 commonName VAR_023528
VAR_023528 disease not phenotype-associated
VAR_023529 commonName VAR_023529
VAR_023529 disease not phenotype-associated
VAR_023530 commonName VAR_023530
VAR_023530 disease not phenotype-associated
VAR_023532 commonName VAR_023532
VAR_023532 disease not phenotype-associated
VAR_023533 commonName VAR_023533
VAR_023533 disease not phenotype-associated
VAR_023534 commonName VAR_023534
VAR_023534 disease not phenotype-associated
VAR_023536 commonName VAR_023536
VAR_023536 disease not phenotype-associated
VAR_023537 commonName VAR_023537
VAR_023537 disease phenotype-associated
VAR_023537 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
VAR_023538 commonName VAR_023538
VAR_023539 commonName VAR_023539
VAR_023539 disease phenotype-associated
VAR_023539 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376]
VAR_023540 commonName VAR_023540
VAR_023540 disease phenotype-associated
VAR_023540 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
VAR_023541 commonName VAR_023541
VAR_023541 disease phenotype-associated
VAR_023541 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200]
VAR_023542 commonName VAR_023542
VAR_023542 disease phenotype-associated
VAR_023542 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
VAR_023543 commonName VAR_023543
VAR_023543 disease not phenotype-associated
VAR_023548 commonName VAR_023548
VAR_023548 disease not phenotype-associated
VAR_023549 commonName VAR_023549
VAR_023549 disease not phenotype-associated
VAR_023550 commonName VAR_023550
VAR_023550 disease not phenotype-associated
VAR_023552 commonName VAR_023552
VAR_023552 disease phenotype-associated
VAR_023552 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023553 commonName VAR_023553
VAR_023553 disease phenotype-associated
VAR_023553 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023554 commonName VAR_023554
VAR_023554 disease phenotype-associated
VAR_023554 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023555 commonName VAR_023555
VAR_023555 disease phenotype-associated
VAR_023555 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023556 commonName VAR_023556
VAR_023556 disease phenotype-associated
VAR_023556 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023557 commonName VAR_023557
VAR_023557 disease phenotype-associated
VAR_023557 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023558 commonName VAR_023558
VAR_023558 disease phenotype-associated
VAR_023558 phenoCommon Rett syndrome (RTT) [MIM:312750]
VAR_023559 commonName VAR_023559
VAR_023559 disease not phenotype-associated
VAR_023560 commonName VAR_023560
VAR_023560 disease phenotype-associated
VAR_023560 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_023561 commonName VAR_023561
VAR_023561 disease phenotype-associated
VAR_023561 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_023562 commonName VAR_023562
VAR_023562 disease not phenotype-associated
VAR_023563 commonName VAR_023563
VAR_023563 disease not phenotype-associated
VAR_023564 commonName VAR_023564
VAR_023564 disease not phenotype-associated
VAR_023565 commonName VAR_023565
VAR_023565 disease not phenotype-associated
VAR_023566 commonName VAR_023566
VAR_023566 disease not phenotype-associated
VAR_023567 commonName VAR_023567
VAR_023567 disease not phenotype-associated
VAR_023568 commonName VAR_023568
VAR_023568 disease not phenotype-associated
VAR_023569 commonName VAR_023569
VAR_023569 disease phenotype-associated
VAR_023569 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
VAR_023570 commonName VAR_023570
VAR_023570 disease phenotype-associated
VAR_023570 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_023571 commonName VAR_023571
VAR_023571 disease phenotype-associated
VAR_023571 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_023572 commonName VAR_023572
VAR_023572 disease phenotype-associated
VAR_023572 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
VAR_023573 commonName VAR_023573
VAR_023573 disease phenotype-associated
VAR_023573 phenoCommon Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]
VAR_023575 commonName VAR_023575
VAR_023575 disease not phenotype-associated
VAR_023576 commonName VAR_023576
VAR_023576 disease not phenotype-associated
VAR_023577 commonName VAR_023577
VAR_023577 disease phenotype-associated
VAR_023577 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]
VAR_023578 commonName VAR_023578
VAR_023578 disease not phenotype-associated
VAR_023579 commonName VAR_023579
VAR_023579 disease not phenotype-associated
VAR_023580 commonName VAR_023580
VAR_023580 disease not phenotype-associated
VAR_023581 commonName VAR_023581
VAR_023581 disease phenotype-associated
VAR_023581 phenoCommon McLeod syndrome (MLS) [MIM:300842]
VAR_023582 commonName VAR_023582
VAR_023582 disease not phenotype-associated
VAR_023583 commonName VAR_023583
VAR_023583 disease not phenotype-associated
VAR_023584 commonName VAR_023584
VAR_023584 disease not phenotype-associated
VAR_023585 commonName VAR_023585
VAR_023585 disease not phenotype-associated
VAR_023586 commonName VAR_023586
VAR_023586 disease not phenotype-associated
VAR_023587 commonName VAR_023587
VAR_023587 disease not phenotype-associated
VAR_023588 commonName VAR_023588
VAR_023588 disease not phenotype-associated
VAR_023589 commonName VAR_023589
VAR_023589 disease not phenotype-associated
VAR_023590 commonName VAR_023590
VAR_023590 disease not phenotype-associated
VAR_023591 commonName VAR_023591
VAR_023591 disease not phenotype-associated
VAR_023599 commonName VAR_023599
VAR_023599 disease not phenotype-associated
VAR_023600 comment Some hepatocellular carcinoma
VAR_023600 commonName VAR_023600
VAR_023601 commonName VAR_023601
VAR_023601 disease not phenotype-associated
VAR_023602 commonName VAR_023602
VAR_023602 disease not phenotype-associated
VAR_023603 commonName VAR_023603
VAR_023603 disease not phenotype-associated
VAR_023604 commonName VAR_023604
VAR_023604 disease phenotype-associated
VAR_023604 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_023605 commonName VAR_023605
VAR_023605 disease phenotype-associated
VAR_023605 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023607 commonName VAR_023607
VAR_023607 disease phenotype-associated
VAR_023607 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023608 commonName VAR_023608
VAR_023608 disease phenotype-associated
VAR_023608 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023609 commonName VAR_023609
HbVar.678 phenoCommon Hemoglobin variant
VAR_023609 disease phenotype-associated
VAR_023609 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023611 commonName VAR_023611
VAR_023611 disease phenotype-associated
VAR_023611 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023612 commonName VAR_023612
VAR_023613 commonName VAR_023613
VAR_023613 disease phenotype-associated
VAR_023613 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023614 commonName VAR_023614
VAR_023614 disease phenotype-associated
VAR_023614 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_023615 commonName VAR_023615
VAR_023615 disease phenotype-associated
VAR_023615 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_023616 commonName VAR_023616
VAR_023616 disease phenotype-associated
VAR_023616 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023617 commonName VAR_023617
VAR_023617 disease phenotype-associated
VAR_023617 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_023618 commonName VAR_023618
VAR_023618 disease not phenotype-associated
VAR_023619 commonName VAR_023619
VAR_023619 disease phenotype-associated
VAR_023619 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
VAR_023620 commonName VAR_023620
VAR_023620 disease not phenotype-associated
VAR_023621 commonName VAR_023621
VAR_023621 disease not phenotype-associated
VAR_023622 commonName VAR_023622
VAR_023622 disease phenotype-associated
VAR_023622 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
VAR_023623 commonName VAR_023623
VAR_023623 disease phenotype-associated
VAR_023623 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
VAR_023624 commonName VAR_023624
VAR_023625 commonName VAR_023625
VAR_023625 disease phenotype-associated
VAR_023625 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
VAR_023626 commonName VAR_023626
VAR_023626 disease not phenotype-associated
VAR_023627 commonName VAR_023627
VAR_023627 disease not phenotype-associated
VAR_023628 commonName VAR_023628
VAR_023629 commonName VAR_023629
VAR_023629 disease phenotype-associated
VAR_023629 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023630 commonName VAR_023630
VAR_023630 disease phenotype-associated
VAR_023630 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023631 commonName VAR_023631
VAR_023631 disease not phenotype-associated
VAR_023632 commonName VAR_023632
VAR_023632 disease phenotype-associated
VAR_023632 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023633 commonName VAR_023633
VAR_023634 commonName VAR_023634
VAR_023634 disease phenotype-associated
VAR_023634 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023635 commonName VAR_023635
VAR_023636 commonName VAR_023636
VAR_023636 disease phenotype-associated
VAR_023636 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023637 commonName VAR_023637
VAR_023637 disease not phenotype-associated
VAR_023638 commonName VAR_023638
VAR_023638 disease phenotype-associated
VAR_023638 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
VAR_023643 commonName VAR_023643
VAR_023643 disease phenotype-associated
VAR_023643 phenoCommon Mucopolysaccharidosis type 9 (MPS9) [MIM:601492]
VAR_023644 commonName VAR_023644
VAR_023644 disease not phenotype-associated
VAR_023647 commonName VAR_023647
VAR_023647 disease phenotype-associated
VAR_023647 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023648 commonName VAR_023648
VAR_023648 disease phenotype-associated
VAR_023648 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023649 commonName VAR_023649
VAR_023649 disease phenotype-associated
VAR_023649 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023650 commonName VAR_023650
VAR_023650 disease phenotype-associated
VAR_023650 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023651 commonName VAR_023651
VAR_023651 disease not phenotype-associated
VAR_023652 commonName VAR_023652
VAR_023652 disease phenotype-associated
VAR_023652 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023653 commonName VAR_023653
VAR_023653 disease phenotype-associated
VAR_023653 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023654 commonName VAR_023654
VAR_023654 disease phenotype-associated
VAR_023654 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023655 commonName VAR_023655
VAR_023655 disease phenotype-associated
VAR_023655 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023656 commonName VAR_023656
VAR_023656 disease not phenotype-associated
VAR_023657 commonName VAR_023657
VAR_023657 disease phenotype-associated
VAR_023657 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023658 commonName VAR_023658
VAR_023658 disease phenotype-associated
VAR_023658 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023659 commonName VAR_023659
VAR_023659 disease phenotype-associated
VAR_023659 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023660 commonName VAR_023660
VAR_023660 disease phenotype-associated
VAR_023660 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023661 commonName VAR_023661
VAR_023661 disease phenotype-associated
VAR_023661 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023662 commonName VAR_023662
VAR_023662 disease phenotype-associated
VAR_023662 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_023663 commonName VAR_023663
VAR_023663 disease phenotype-associated
VAR_023663 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]
VAR_023663 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023664 commonName VAR_023664
VAR_023664 disease phenotype-associated
VAR_023664 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_023664 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]
VAR_023664 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023665 commonName VAR_023665
VAR_023665 disease phenotype-associated
VAR_023665 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023666 commonName VAR_023666
VAR_023666 disease phenotype-associated
VAR_023666 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023667 commonName VAR_023667
VAR_023667 disease phenotype-associated
VAR_023667 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023668 commonName VAR_023668
VAR_023668 disease phenotype-associated
VAR_023668 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023669 commonName VAR_023669
VAR_023669 disease phenotype-associated
VAR_023669 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023670 commonName VAR_023670
VAR_023670 disease phenotype-associated
VAR_023670 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023671 commonName VAR_023671
VAR_023671 disease phenotype-associated
VAR_023671 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_023671 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]
VAR_023671 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023672 commonName VAR_023672
VAR_023672 disease phenotype-associated
VAR_023672 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023673 commonName VAR_023673
VAR_023673 disease phenotype-associated
VAR_023673 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_023673 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023674 commonName VAR_023674
VAR_023674 disease phenotype-associated
VAR_023674 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_023674 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023675 commonName VAR_023675
VAR_023675 disease phenotype-associated
VAR_023675 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_023675 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_023675 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]
VAR_023675 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023676 commonName VAR_023676
VAR_023676 disease phenotype-associated
VAR_023676 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662]
VAR_023677 commonName VAR_023677
VAR_023677 disease phenotype-associated
VAR_023677 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023678 commonName VAR_023678
VAR_023678 disease phenotype-associated
VAR_023678 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023679 commonName VAR_023679
VAR_023679 disease phenotype-associated
VAR_023679 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023679 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023680 commonName VAR_023680
VAR_023680 disease phenotype-associated
VAR_023680 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023681 commonName VAR_023681
VAR_023681 disease phenotype-associated
VAR_023681 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023682 commonName VAR_023682
VAR_023682 disease phenotype-associated
VAR_023682 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023683 commonName VAR_023683
VAR_023683 disease phenotype-associated
VAR_023683 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023684 commonName VAR_023684
VAR_023684 disease phenotype-associated
VAR_023684 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_023685 commonName VAR_023685
VAR_023685 disease phenotype-associated
VAR_023685 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023686 commonName VAR_023686
VAR_023686 disease phenotype-associated
VAR_023686 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023687 commonName VAR_023687
VAR_023687 disease phenotype-associated
VAR_023687 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023688 commonName VAR_023688
VAR_023688 disease phenotype-associated
VAR_023688 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023689 commonName VAR_023689
VAR_023689 disease phenotype-associated
VAR_023689 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_023690 commonName VAR_023690
VAR_023690 disease phenotype-associated
VAR_023690 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_023691 commonName VAR_023691
VAR_023691 disease not phenotype-associated
VAR_023692 commonName VAR_023692
VAR_023692 disease not phenotype-associated
VAR_023693 commonName VAR_023693
VAR_023693 disease not phenotype-associated
VAR_023694 commonName VAR_023694
VAR_023694 disease phenotype-associated
VAR_023694 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_023695 commonName VAR_023695
VAR_023695 disease phenotype-associated
VAR_023695 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_023696 commonName VAR_023696
VAR_023696 disease phenotype-associated
VAR_023696 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_023697 commonName VAR_023697
VAR_023697 disease not phenotype-associated
VAR_023698 commonName VAR_023698
VAR_023698 disease not phenotype-associated
VAR_023700 commonName VAR_023700
VAR_023700 disease phenotype-associated
VAR_023700 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023701 commonName VAR_023701
VAR_023701 disease not phenotype-associated
VAR_023702 commonName VAR_023702
VAR_023702 disease phenotype-associated
VAR_023702 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023703 commonName VAR_023703
VAR_023703 disease phenotype-associated
VAR_023703 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023704 commonName VAR_023704
VAR_023704 disease phenotype-associated
VAR_023704 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054]
VAR_023705 commonName VAR_023705
VAR_023705 disease not phenotype-associated
VAR_023706 commonName VAR_023706
VAR_023706 disease not phenotype-associated
VAR_023707 commonName VAR_023707
VAR_023707 disease not phenotype-associated
VAR_023708 commonName VAR_023708
VAR_023708 disease not phenotype-associated
VAR_023709 commonName VAR_023709
VAR_023709 disease not phenotype-associated
VAR_023710 commonName VAR_023710
VAR_023710 disease not phenotype-associated
VAR_023711 commonName VAR_023711
VAR_023711 disease not phenotype-associated
VAR_023712 commonName VAR_023712
VAR_023712 disease not phenotype-associated
VAR_023713 comment A hepatocellular carcinoma sample
VAR_023713 commonName VAR_023713
VAR_023714 comment A hepatocellular carcinoma sample
VAR_023714 commonName VAR_023714
VAR_023715 comment A hepatocellular carcinoma sample
VAR_023715 commonName VAR_023715
VAR_023716 comment A hepatocellular carcinoma sample
VAR_023716 commonName VAR_023716
VAR_023717 comment A hepatocellular carcinoma sample
VAR_023717 commonName VAR_023717
VAR_023718 commonName VAR_023718
VAR_023718 disease not phenotype-associated
VAR_023719 commonName VAR_023719
VAR_023719 disease phenotype-associated
VAR_023719 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_023719 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_023720 commonName VAR_023720
VAR_023720 disease phenotype-associated
VAR_023720 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_023721 commonName VAR_023721
VAR_023721 disease phenotype-associated
VAR_023721 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_023722 commonName VAR_023722
VAR_023722 disease phenotype-associated
VAR_023722 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_023723 commonName VAR_023723
VAR_023723 disease phenotype-associated
VAR_023723 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_023723 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_023724 commonName VAR_023724
VAR_023724 disease phenotype-associated
VAR_023724 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_023725 commonName VAR_023725
VAR_023725 disease phenotype-associated
VAR_023725 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_023726 commonName VAR_023726
VAR_023726 disease phenotype-associated
VAR_023726 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_023727 commonName VAR_023727
VAR_023727 disease phenotype-associated
VAR_023727 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_023728 commonName VAR_023728
VAR_023728 disease phenotype-associated
VAR_023728 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_023737 commonName VAR_023737
VAR_023737 disease phenotype-associated
VAR_023737 phenoCommon Familial hypercholanemia (FHCA) [MIM:607748]
VAR_023738 commonName VAR_023738
VAR_023738 disease not phenotype-associated
VAR_023739 commonName VAR_023739
VAR_023739 disease phenotype-associated
VAR_023739 phenoCommon Usher syndrome type 1G (USH1G) [MIM:606943]
VAR_023740 commonName VAR_023740
VAR_023740 disease not phenotype-associated
VAR_023741 commonName VAR_023741
VAR_023741 disease not phenotype-associated
VAR_023742 commonName VAR_023742
VAR_023742 disease not phenotype-associated
VAR_023743 commonName VAR_023743
VAR_023743 disease not phenotype-associated
VAR_023744 commonName VAR_023744
VAR_023744 disease not phenotype-associated
VAR_023745 commonName VAR_023745
VAR_023745 disease not phenotype-associated
VAR_023746 commonName VAR_023746
VAR_023746 disease not phenotype-associated
VAR_023747 commonName VAR_023747
VAR_023747 disease not phenotype-associated
VAR_023748 commonName VAR_023748
VAR_023748 disease not phenotype-associated
VAR_023749 commonName VAR_023749
VAR_023749 disease not phenotype-associated
VAR_023750 commonName VAR_023750
VAR_023750 disease not phenotype-associated
VAR_023751 commonName VAR_023751
VAR_023751 disease not phenotype-associated
VAR_023752 commonName VAR_023752
VAR_023752 disease not phenotype-associated
VAR_023753 commonName VAR_023753
VAR_023754 commonName VAR_023754
VAR_023754 disease phenotype-associated
VAR_023754 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]
VAR_023755 commonName VAR_023755
VAR_023755 disease phenotype-associated
VAR_023755 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]
VAR_023756 commonName VAR_023756
VAR_023756 disease phenotype-associated
VAR_023756 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]
VAR_023757 commonName VAR_023757
VAR_023757 disease not phenotype-associated
VAR_023760 commonName VAR_023760
VAR_023761 commonName VAR_023761
VAR_023761 disease not phenotype-associated
VAR_023764 commonName VAR_023764
VAR_023764 disease not phenotype-associated
VAR_023765 commonName VAR_023765
VAR_023766 commonName VAR_023766
VAR_023766 disease not phenotype-associated
VAR_023767 commonName VAR_023767
VAR_023767 disease not phenotype-associated
VAR_023768 commonName VAR_023768
VAR_023768 disease not phenotype-associated
VAR_023770 commonName VAR_023770
VAR_023770 disease phenotype-associated
VAR_023770 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_023771 commonName VAR_023771
VAR_023771 disease phenotype-associated
VAR_023771 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_023772 commonName VAR_023772
VAR_023772 disease not phenotype-associated
VAR_023773 commonName VAR_023773
VAR_023773 disease not phenotype-associated
VAR_023774 commonName VAR_023774
VAR_023774 disease not phenotype-associated
VAR_023775 commonName VAR_023775
VAR_023775 disease not phenotype-associated
VAR_023776 commonName VAR_023776
VAR_023776 disease not phenotype-associated
VAR_023777 commonName VAR_023777
VAR_023777 disease not phenotype-associated
VAR_023778 commonName VAR_023778
VAR_023778 disease not phenotype-associated
VAR_023779 commonName VAR_023779
VAR_023779 disease not phenotype-associated
VAR_023782 commonName VAR_023782
VAR_023782 disease not phenotype-associated
VAR_023783 commonName VAR_023783
VAR_023783 disease not phenotype-associated
VAR_023784 commonName VAR_023784
VAR_023784 disease phenotype-associated
VAR_023784 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
VAR_023785 commonName VAR_023785
VAR_023785 disease phenotype-associated
VAR_023785 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
VAR_023786 commonName VAR_023786
VAR_023786 disease not phenotype-associated
VAR_023787 commonName VAR_023787
VAR_023787 disease phenotype-associated
VAR_023787 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
VAR_023788 commonName VAR_023788
VAR_023788 disease phenotype-associated
VAR_023788 phenoCommon Familial scaphocephaly syndrome (FSPC) [MIM:609579]
VAR_023789 commonName VAR_023789
VAR_023789 disease phenotype-associated
VAR_023789 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
VAR_023790 commonName VAR_023790
VAR_023790 disease phenotype-associated
VAR_023790 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]
VAR_023793 commonName VAR_023793
VAR_023793 disease phenotype-associated
VAR_023793 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_023794 commonName VAR_023794
VAR_023794 disease phenotype-associated
VAR_023794 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_023797 commonName VAR_023797
VAR_023797 disease phenotype-associated
VAR_023797 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023798 commonName VAR_023798
VAR_023798 disease phenotype-associated
VAR_023798 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023799 commonName VAR_023799
VAR_023799 disease phenotype-associated
VAR_023799 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023800 commonName VAR_023800
VAR_023800 disease phenotype-associated
VAR_023800 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023801 commonName VAR_023801
VAR_023801 disease phenotype-associated
VAR_023801 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023802 commonName VAR_023802
VAR_023802 disease phenotype-associated
VAR_023802 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_023803 commonName VAR_023803
VAR_023803 disease phenotype-associated
VAR_023803 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946]
VAR_023804 commonName VAR_023804
VAR_023804 disease phenotype-associated
VAR_023804 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023806 commonName VAR_023806
VAR_023806 disease phenotype-associated
VAR_023806 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023807 commonName VAR_023807
VAR_023807 disease phenotype-associated
VAR_023807 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023809 commonName VAR_023809
VAR_023809 disease phenotype-associated
VAR_023809 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023810 commonName VAR_023810
VAR_023810 disease phenotype-associated
VAR_023810 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023810 phenoCommon Solitary median maxillary central incisor (SMMCI) [MIM:147250]
VAR_023811 commonName VAR_023811
VAR_023811 disease phenotype-associated
VAR_023811 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023812 commonName VAR_023812
VAR_023812 disease phenotype-associated
VAR_023812 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_023814 commonName VAR_023814
VAR_023814 disease phenotype-associated
VAR_023814 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
VAR_023815 commonName VAR_023815
VAR_023815 disease not phenotype-associated
VAR_023816 commonName VAR_023816
VAR_023816 disease phenotype-associated
VAR_023816 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
VAR_023817 commonName VAR_023817
HbVar.679 protEffect HBD 137(H14) Gly>Asp
VAR_023817 disease phenotype-associated
VAR_023817 phenoCommon Majeed syndrome (MAJEEDS) [MIM:609628]
VAR_023819 commonName VAR_023819
VAR_023819 disease phenotype-associated
VAR_023819 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600]
VAR_023820 commonName VAR_023820
VAR_023820 disease phenotype-associated
VAR_023820 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600]
VAR_023821 commonName VAR_023821
VAR_023821 disease phenotype-associated
VAR_023821 phenoCommon Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]
VAR_023822 commonName VAR_023822
VAR_023822 disease phenotype-associated
VAR_023822 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464]
VAR_023823 commonName VAR_023823
VAR_023823 disease phenotype-associated
VAR_023823 phenoCommon Blau syndrome (BS) [MIM:186580]
VAR_023824 commonName VAR_023824
VAR_023824 disease phenotype-associated
VAR_023824 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464]
VAR_023825 commonName VAR_023825
VAR_023825 disease phenotype-associated
VAR_023825 phenoCommon Mental retardation X-linked type 30 (MRX30) [MIM:300558]
VAR_023826 commonName VAR_023826
VAR_023826 disease phenotype-associated
VAR_023826 phenoCommon Mental retardation X-linked type 30 (MRX30) [MIM:300558]
VAR_023827 commonName VAR_023827
VAR_023827 disease phenotype-associated
VAR_023827 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300]
VAR_023828 comment Acute myeloid leukemia
VAR_023828 commonName VAR_023828
VAR_023829 comment A germ cell tumor of the testis
VAR_023829 commonName VAR_023829
VAR_023830 comment A germ cell tumor of the testis
VAR_023830 commonName VAR_023830
VAR_023831 commonName VAR_023831
VAR_023831 disease phenotype-associated
VAR_023831 phenoCommon Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]
VAR_023832 commonName VAR_023832
VAR_023832 disease not phenotype-associated
VAR_023833 commonName VAR_023833
VAR_023833 disease not phenotype-associated
VAR_023834 commonName VAR_023834
VAR_023834 disease not phenotype-associated
VAR_023835 commonName VAR_023835
VAR_023835 disease not phenotype-associated
VAR_023836 commonName VAR_023836
VAR_023836 disease not phenotype-associated
VAR_023837 commonName VAR_023837
VAR_023837 disease not phenotype-associated
VAR_023838 commonName VAR_023838
VAR_023838 disease not phenotype-associated
VAR_023839 commonName VAR_023839
VAR_023839 disease not phenotype-associated
VAR_023840 commonName VAR_023840
VAR_023840 disease phenotype-associated
VAR_023840 phenoCommon Short QT syndrome type 1 (SQT1) [MIM:609620]
VAR_023841 commonName VAR_023841
VAR_023841 disease phenotype-associated
VAR_023841 phenoCommon Short QT syndrome type 2 (SQT2) [MIM:609621]
VAR_023842 commonName VAR_023842
VAR_023842 disease phenotype-associated
VAR_023842 phenoCommon Short QT syndrome type 3 (SQT3) [MIM:609622]
VAR_023843 commonName VAR_023843
VAR_023843 disease phenotype-associated
VAR_023843 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_023844 commonName VAR_023844
VAR_023844 disease phenotype-associated
VAR_023844 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054]
VAR_023846 commonName VAR_023846
VAR_023846 disease not phenotype-associated
VAR_023847 commonName VAR_023847
VAR_023847 disease phenotype-associated
VAR_023847 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023848 commonName VAR_023848
VAR_023848 disease phenotype-associated
VAR_023848 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023849 commonName VAR_023849
VAR_023849 disease phenotype-associated
VAR_023849 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023850 commonName VAR_023850
VAR_023850 disease phenotype-associated
VAR_023850 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023851 commonName VAR_023851
VAR_023851 disease phenotype-associated
VAR_023851 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023852 commonName VAR_023852
VAR_023852 disease phenotype-associated
VAR_023852 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023853 commonName VAR_023853
VAR_023853 disease phenotype-associated
VAR_023853 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023855 commonName VAR_023855
VAR_023855 disease phenotype-associated
VAR_023855 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023856 commonName VAR_023856
VAR_023856 disease phenotype-associated
VAR_023856 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023857 commonName VAR_023857
VAR_023857 disease phenotype-associated
VAR_023857 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023858 commonName VAR_023858
VAR_023858 disease phenotype-associated
VAR_023858 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054]
VAR_023916 commonName VAR_023916
VAR_023916 disease not phenotype-associated
VAR_023917 comment A Burkitt lymphoma cell line
VAR_023917 commonName VAR_023917
VAR_023918 comment A primary colorectal tumor
VAR_023918 commonName VAR_023918
VAR_023919 commonName VAR_023919
VAR_023919 disease not phenotype-associated
VAR_023920 commonName VAR_023920
VAR_023920 disease not phenotype-associated
VAR_023921 commonName VAR_023921
VAR_023921 disease not phenotype-associated
VAR_023922 commonName VAR_023922
VAR_023924 commonName VAR_023924
VAR_023924 disease phenotype-associated
VAR_023924 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900]
VAR_023925 commonName VAR_023925
VAR_023925 disease phenotype-associated
VAR_023925 phenoCommon Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
VAR_023926 commonName VAR_023926
VAR_023927 commonName VAR_023927
VAR_023927 disease phenotype-associated
VAR_023927 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_023928 commonName VAR_023928
VAR_023928 disease phenotype-associated
VAR_023928 phenoCommon Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
VAR_023929 commonName VAR_023929
VAR_023929 disease phenotype-associated
VAR_023929 phenoCommon Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
VAR_023930 commonName VAR_023930
VAR_023930 disease phenotype-associated
VAR_023930 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
VAR_023931 commonName VAR_023931
VAR_023931 disease phenotype-associated
VAR_023931 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
VAR_023932 commonName VAR_023932
VAR_023932 disease phenotype-associated
VAR_023932 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
VAR_023933 commonName VAR_023933
VAR_023933 disease phenotype-associated
VAR_023933 phenoCommon Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
VAR_023934 commonName VAR_023934
VAR_023935 commonName VAR_023935
VAR_023935 disease phenotype-associated
VAR_023935 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
VAR_023936 commonName VAR_023936
VAR_023936 disease not phenotype-associated
VAR_023937 commonName VAR_023937
VAR_023937 disease not phenotype-associated
VAR_023938 commonName VAR_023938
VAR_023938 disease not phenotype-associated
VAR_023939 commonName VAR_023939
VAR_023939 disease not phenotype-associated
VAR_023940 commonName VAR_023940
VAR_023940 disease not phenotype-associated
VAR_023941 commonName VAR_023941
VAR_023941 disease not phenotype-associated
VAR_023942 commonName VAR_023942
VAR_023942 disease not phenotype-associated
VAR_023943 commonName VAR_023943
VAR_023943 disease not phenotype-associated
VAR_023944 commonName VAR_023944
VAR_023944 disease not phenotype-associated
VAR_023945 commonName VAR_023945
VAR_023945 disease not phenotype-associated
VAR_023946 commonName VAR_023946
VAR_023946 disease not phenotype-associated
VAR_023948 commonName VAR_023948
VAR_023948 disease not phenotype-associated
VAR_023953 commonName VAR_023953
VAR_023953 disease not phenotype-associated
VAR_023954 commonName VAR_023954
VAR_023954 disease not phenotype-associated
VAR_023955 commonName VAR_023955
VAR_023955 disease not phenotype-associated
VAR_023956 commonName VAR_023956
VAR_023956 disease not phenotype-associated
VAR_023958 commonName VAR_023958
VAR_023958 disease phenotype-associated
VAR_023958 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_023960 commonName VAR_023960
VAR_023960 disease not phenotype-associated
VAR_023961 commonName VAR_023961
VAR_023961 disease not phenotype-associated
VAR_023962 commonName VAR_023962
VAR_023962 disease not phenotype-associated
VAR_023963 commonName VAR_023963
VAR_023963 disease not phenotype-associated
VAR_023964 commonName VAR_023964
VAR_023964 disease not phenotype-associated
VAR_023965 commonName VAR_023965
VAR_023965 disease not phenotype-associated
VAR_023966 commonName VAR_023966
VAR_023966 disease not phenotype-associated
VAR_023967 commonName VAR_023967
VAR_023967 disease not phenotype-associated
VAR_023968 commonName VAR_023968
VAR_023968 disease not phenotype-associated
VAR_023969 commonName VAR_023969
VAR_023969 disease not phenotype-associated
VAR_023970 commonName VAR_023970
VAR_023970 disease not phenotype-associated
VAR_023971 commonName VAR_023971
VAR_023971 disease not phenotype-associated
VAR_023972 commonName VAR_023972
VAR_023972 disease not phenotype-associated
VAR_023973 commonName VAR_023973
VAR_023973 disease not phenotype-associated
VAR_023974 commonName VAR_023974
VAR_023974 disease not phenotype-associated
VAR_023976 commonName VAR_023976
VAR_023976 disease not phenotype-associated
VAR_023977 commonName VAR_023977
VAR_023977 disease not phenotype-associated
VAR_023978 commonName VAR_023978
VAR_023978 disease not phenotype-associated
VAR_023979 commonName VAR_023979
VAR_023979 disease not phenotype-associated
VAR_023980 commonName VAR_023980
VAR_023980 disease not phenotype-associated
VAR_023981 commonName VAR_023981
VAR_023981 disease not phenotype-associated
VAR_023982 commonName VAR_023982
VAR_023982 disease not phenotype-associated
VAR_023983 commonName VAR_023983
VAR_023983 disease not phenotype-associated
VAR_023984 commonName VAR_023984
VAR_023984 disease not phenotype-associated
VAR_023985 commonName VAR_023985
VAR_023985 disease not phenotype-associated
VAR_023986 commonName VAR_023986
VAR_023986 disease not phenotype-associated
VAR_023987 commonName VAR_023987
VAR_023987 disease not phenotype-associated
VAR_023988 commonName VAR_023988
VAR_023988 disease not phenotype-associated
VAR_023989 commonName VAR_023989
VAR_023989 disease not phenotype-associated
VAR_023990 commonName VAR_023990
VAR_023990 disease not phenotype-associated
VAR_023991 commonName VAR_023991
VAR_023991 disease not phenotype-associated
VAR_023995 commonName VAR_023995
VAR_023995 disease not phenotype-associated
VAR_023996 commonName VAR_023996
VAR_023996 disease not phenotype-associated
VAR_023997 commonName VAR_023997
VAR_023997 disease not phenotype-associated
VAR_023998 commonName VAR_023998
VAR_023998 disease not phenotype-associated
VAR_023999 commonName VAR_023999
VAR_023999 disease not phenotype-associated
VAR_024000 commonName VAR_024000
VAR_024000 disease not phenotype-associated
VAR_024001 commonName VAR_024001
VAR_024001 disease not phenotype-associated
VAR_024002 commonName VAR_024002
VAR_024002 disease not phenotype-associated
VAR_024003 commonName VAR_024003
VAR_024003 disease not phenotype-associated
VAR_024004 commonName VAR_024004
VAR_024004 disease not phenotype-associated
VAR_024005 commonName VAR_024005
VAR_024005 disease not phenotype-associated
VAR_024006 commonName VAR_024006
VAR_024006 disease not phenotype-associated
VAR_024007 commonName VAR_024007
VAR_024007 disease not phenotype-associated
VAR_024008 commonName VAR_024008
VAR_024008 disease not phenotype-associated
VAR_024009 commonName VAR_024009
VAR_024009 disease phenotype-associated
VAR_024009 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]
VAR_024010 commonName VAR_024010
VAR_024010 disease phenotype-associated
VAR_024010 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]
VAR_024011 commonName VAR_024011
VAR_024011 disease phenotype-associated
VAR_024011 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]
VAR_024014 comment One EMPD primary tumor
VAR_024014 commonName VAR_024014
VAR_024015 commonName VAR_024015
VAR_024015 disease phenotype-associated
VAR_024015 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]
VAR_024016 commonName VAR_024016
VAR_024016 disease not phenotype-associated
VAR_024017 commonName VAR_024017
VAR_024017 disease phenotype-associated
VAR_024017 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]
VAR_024018 commonName VAR_024018
VAR_024018 disease phenotype-associated
VAR_024018 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]
VAR_024019 commonName VAR_024019
VAR_024019 disease phenotype-associated
VAR_024019 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]
VAR_024020 commonName VAR_024020
VAR_024020 disease phenotype-associated
VAR_024020 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]
VAR_024021 commonName VAR_024021
VAR_024021 disease not phenotype-associated
VAR_024022 commonName VAR_024022
VAR_024022 disease not phenotype-associated
VAR_024023 commonName VAR_024023
VAR_024023 disease not phenotype-associated
VAR_024024 commonName VAR_024024
VAR_024024 disease phenotype-associated
VAR_024024 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808]
VAR_024025 commonName VAR_024025
VAR_024025 disease phenotype-associated
VAR_024025 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808]
VAR_024026 commonName VAR_024026
VAR_024026 disease phenotype-associated
VAR_024026 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808]
VAR_024027 commonName VAR_024027
VAR_024027 disease phenotype-associated
VAR_024027 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500]
VAR_024027 phenoCommon Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]
VAR_024028 commonName VAR_024028
VAR_024028 disease phenotype-associated
VAR_024028 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500]
VAR_024029 commonName VAR_024029
VAR_024029 disease phenotype-associated
VAR_024029 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500]
VAR_024030 commonName VAR_024030
VAR_024030 disease phenotype-associated
VAR_024030 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_024031 commonName VAR_024031
VAR_024031 disease phenotype-associated
VAR_024031 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_024032 commonName VAR_024032
VAR_024032 disease phenotype-associated
VAR_024032 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_024033 commonName VAR_024033
VAR_024033 disease phenotype-associated
VAR_024033 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_024033 phenoCommon Usher syndrome type 1D/F (USH1DF) [MIM:601067]
VAR_024034 commonName VAR_024034
VAR_024034 disease phenotype-associated
VAR_024034 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_024035 commonName VAR_024035
VAR_024035 disease phenotype-associated
VAR_024035 phenoCommon Deafness autosomal recessive type 23 (DFNB23) [MIM:609533]
VAR_024036 commonName VAR_024036
VAR_024036 disease phenotype-associated
VAR_024036 phenoCommon Deafness autosomal recessive type 23 (DFNB23) [MIM:609533]
VAR_024037 commonName VAR_024037
VAR_024037 disease phenotype-associated
VAR_024037 phenoCommon Usher syndrome type 1F (USH1F) [MIM:602083]
VAR_024039 commonName VAR_024039
VAR_024039 disease phenotype-associated
VAR_024039 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024040 commonName VAR_024040
VAR_024040 disease phenotype-associated
VAR_024040 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024041 commonName VAR_024041
VAR_024041 disease phenotype-associated
VAR_024041 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024042 commonName VAR_024042
VAR_024042 disease phenotype-associated
VAR_024042 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024043 commonName VAR_024043
VAR_024043 disease phenotype-associated
VAR_024043 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024044 commonName VAR_024044
VAR_024044 disease phenotype-associated
VAR_024044 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024046 commonName VAR_024046
VAR_024046 disease phenotype-associated
VAR_024046 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024047 commonName VAR_024047
VAR_024047 disease phenotype-associated
VAR_024047 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024048 commonName VAR_024048
VAR_024048 disease phenotype-associated
VAR_024048 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024049 commonName VAR_024049
VAR_024049 disease phenotype-associated
VAR_024049 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024051 commonName VAR_024051
VAR_024051 disease phenotype-associated
VAR_024051 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024052 commonName VAR_024052
VAR_024052 disease phenotype-associated
VAR_024052 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024053 commonName VAR_024053
VAR_024053 disease phenotype-associated
VAR_024053 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024054 commonName VAR_024054
VAR_024054 disease phenotype-associated
VAR_024054 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024055 commonName VAR_024055
VAR_024055 disease phenotype-associated
VAR_024055 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_024056 commonName VAR_024056
VAR_024056 disease not phenotype-associated
VAR_024057 commonName VAR_024057
VAR_024057 disease not phenotype-associated
VAR_024059 commonName VAR_024059
VAR_024059 disease not phenotype-associated
VAR_024060 commonName VAR_024060
VAR_024060 disease not phenotype-associated
VAR_024061 comment A rhabdomyosarcoma sample
VAR_024061 commonName VAR_024061
VAR_024062 commonName VAR_024062
VAR_024062 disease phenotype-associated
VAR_024062 phenoCommon Lung cancer (LNCR) [MIM:211980]
VAR_024063 commonName VAR_024063
VAR_024063 disease not phenotype-associated
VAR_024065 commonName VAR_024065
VAR_024065 disease not phenotype-associated
VAR_024066 commonName VAR_024066
VAR_024066 disease not phenotype-associated
VAR_024067 commonName VAR_024067
VAR_024067 disease not phenotype-associated
VAR_024068 commonName VAR_024068
VAR_024068 disease not phenotype-associated
VAR_024069 commonName VAR_024069
VAR_024069 disease not phenotype-associated
VAR_024070 commonName VAR_024070
VAR_024070 disease not phenotype-associated
VAR_024072 commonName VAR_024072
VAR_024072 disease not phenotype-associated
VAR_024073 commonName VAR_024073
VAR_024073 disease not phenotype-associated
VAR_024074 commonName VAR_024074
VAR_024074 disease not phenotype-associated
VAR_024075 commonName VAR_024075
VAR_024075 disease not phenotype-associated
VAR_024076 commonName VAR_024076
VAR_024076 disease not phenotype-associated
VAR_024077 commonName VAR_024077
VAR_024077 disease not phenotype-associated
VAR_024078 commonName VAR_024078
VAR_024078 disease not phenotype-associated
VAR_024079 commonName VAR_024079
VAR_024079 disease phenotype-associated
VAR_024079 phenoCommon 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
VAR_024080 commonName VAR_024080
VAR_024080 disease phenotype-associated
VAR_024080 phenoCommon 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
VAR_024081 commonName VAR_024081
VAR_024081 disease phenotype-associated
VAR_024081 phenoCommon Familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]
VAR_024082 commonName VAR_024082
VAR_024082 disease phenotype-associated
VAR_024082 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_024083 commonName VAR_024083
VAR_024083 disease not phenotype-associated
VAR_024084 commonName VAR_024084
VAR_024084 disease not phenotype-associated
VAR_024085 commonName VAR_024085
VAR_024085 disease not phenotype-associated
VAR_024086 commonName VAR_024086
VAR_024086 disease not phenotype-associated
VAR_024087 commonName VAR_024087
VAR_024087 disease not phenotype-associated
VAR_024088 commonName VAR_024088
VAR_024088 disease not phenotype-associated
VAR_024089 commonName VAR_024089
VAR_024089 disease not phenotype-associated
VAR_024090 commonName VAR_024090
VAR_024090 disease not phenotype-associated
VAR_024091 commonName VAR_024091
VAR_024091 disease not phenotype-associated
VAR_024092 commonName VAR_024092
VAR_024092 disease not phenotype-associated
VAR_024093 commonName VAR_024093
VAR_024093 disease not phenotype-associated
VAR_024094 commonName VAR_024094
VAR_024094 disease not phenotype-associated
VAR_024095 commonName VAR_024095
VAR_024095 disease not phenotype-associated
VAR_024096 commonName VAR_024096
VAR_024096 disease not phenotype-associated
VAR_024097 commonName VAR_024097
VAR_024097 disease not phenotype-associated
VAR_024098 commonName VAR_024098
VAR_024098 disease not phenotype-associated
VAR_024099 commonName VAR_024099
VAR_024099 disease not phenotype-associated
VAR_024100 commonName VAR_024100
VAR_024100 disease not phenotype-associated
VAR_024101 commonName VAR_024101
VAR_024101 disease not phenotype-associated
VAR_024102 commonName VAR_024102
VAR_024102 disease not phenotype-associated
VAR_024103 commonName VAR_024103
VAR_024103 disease not phenotype-associated
VAR_024104 commonName VAR_024104
VAR_024104 disease not phenotype-associated
VAR_024105 commonName VAR_024105
VAR_024105 disease not phenotype-associated
VAR_024106 commonName VAR_024106
VAR_024106 disease not phenotype-associated
VAR_024107 commonName VAR_024107
VAR_024107 disease not phenotype-associated
VAR_024108 commonName VAR_024108
VAR_024108 disease not phenotype-associated
VAR_024109 commonName VAR_024109
VAR_024109 disease not phenotype-associated
VAR_024110 commonName VAR_024110
VAR_024110 disease not phenotype-associated
VAR_024111 commonName VAR_024111
VAR_024111 disease not phenotype-associated
VAR_024112 commonName VAR_024112
VAR_024112 disease not phenotype-associated
VAR_024113 commonName VAR_024113
VAR_024113 disease not phenotype-associated
VAR_024114 commonName VAR_024114
VAR_024114 disease not phenotype-associated
VAR_024115 commonName VAR_024115
VAR_024115 disease not phenotype-associated
VAR_024116 commonName VAR_024116
VAR_024116 disease not phenotype-associated
VAR_024117 commonName VAR_024117
VAR_024117 disease not phenotype-associated
VAR_024118 commonName VAR_024118
VAR_024118 disease not phenotype-associated
VAR_024119 commonName VAR_024119
VAR_024119 disease not phenotype-associated
VAR_024120 commonName VAR_024120
VAR_024120 disease not phenotype-associated
VAR_024121 commonName VAR_024121
VAR_024121 disease not phenotype-associated
VAR_024122 commonName VAR_024122
VAR_024122 disease not phenotype-associated
VAR_024123 commonName VAR_024123
VAR_024123 disease not phenotype-associated
VAR_024124 commonName VAR_024124
VAR_024124 disease not phenotype-associated
VAR_024125 commonName VAR_024125
VAR_024125 disease not phenotype-associated
VAR_024126 commonName VAR_024126
VAR_024126 disease not phenotype-associated
VAR_024127 commonName VAR_024127
VAR_024127 disease not phenotype-associated
VAR_024128 commonName VAR_024128
VAR_024128 disease not phenotype-associated
VAR_024129 commonName VAR_024129
VAR_024129 disease not phenotype-associated
VAR_024130 commonName VAR_024130
VAR_024130 disease not phenotype-associated
VAR_024131 commonName VAR_024131
VAR_024131 disease not phenotype-associated
VAR_024132 commonName VAR_024132
VAR_024132 disease not phenotype-associated
VAR_024133 commonName VAR_024133
VAR_024133 disease not phenotype-associated
VAR_024134 commonName VAR_024134
VAR_024134 disease not phenotype-associated
VAR_024135 commonName VAR_024135
VAR_024135 disease not phenotype-associated
VAR_024136 commonName VAR_024136
VAR_024136 disease not phenotype-associated
VAR_024137 commonName VAR_024137
VAR_024137 disease not phenotype-associated
VAR_024138 commonName VAR_024138
VAR_024138 disease not phenotype-associated
VAR_024139 commonName VAR_024139
VAR_024139 disease not phenotype-associated
VAR_024140 commonName VAR_024140
VAR_024140 disease not phenotype-associated
VAR_024141 commonName VAR_024141
VAR_024141 disease not phenotype-associated
VAR_024142 commonName VAR_024142
VAR_024142 disease not phenotype-associated
VAR_024143 commonName VAR_024143
VAR_024143 disease not phenotype-associated
VAR_024144 commonName VAR_024144
VAR_024144 disease not phenotype-associated
VAR_024145 commonName VAR_024145
VAR_024145 disease not phenotype-associated
VAR_024146 commonName VAR_024146
VAR_024146 disease not phenotype-associated
VAR_024147 commonName VAR_024147
VAR_024147 disease not phenotype-associated
VAR_024148 commonName VAR_024148
VAR_024148 disease not phenotype-associated
VAR_024149 commonName VAR_024149
VAR_024149 disease not phenotype-associated
VAR_024150 commonName VAR_024150
VAR_024150 disease not phenotype-associated
VAR_024151 commonName VAR_024151
VAR_024151 disease not phenotype-associated
VAR_024152 commonName VAR_024152
VAR_024152 disease not phenotype-associated
VAR_024153 commonName VAR_024153
VAR_024153 disease not phenotype-associated
VAR_024154 commonName VAR_024154
VAR_024154 disease not phenotype-associated
VAR_024155 commonName VAR_024155
VAR_024155 disease not phenotype-associated
VAR_024156 commonName VAR_024156
VAR_024156 disease not phenotype-associated
VAR_024157 commonName VAR_024157
VAR_024157 disease not phenotype-associated
VAR_024158 commonName VAR_024158
VAR_024158 disease not phenotype-associated
VAR_024160 commonName VAR_024160
VAR_024160 disease not phenotype-associated
VAR_024161 commonName VAR_024161
VAR_024161 disease not phenotype-associated
VAR_024162 commonName VAR_024162
VAR_024162 disease not phenotype-associated
VAR_024163 commonName VAR_024163
VAR_024163 disease not phenotype-associated
VAR_024168 commonName VAR_024168
VAR_024168 disease not phenotype-associated
VAR_024169 commonName VAR_024169
VAR_024169 disease not phenotype-associated
VAR_024170 commonName VAR_024170
VAR_024170 disease not phenotype-associated
VAR_024172 commonName VAR_024172
VAR_024172 disease not phenotype-associated
VAR_024173 commonName VAR_024173
VAR_024173 disease not phenotype-associated
VAR_024174 commonName VAR_024174
VAR_024174 disease not phenotype-associated
VAR_024175 commonName VAR_024175
VAR_024175 disease not phenotype-associated
VAR_024176 commonName VAR_024176
VAR_024176 disease not phenotype-associated
VAR_024177 commonName VAR_024177
VAR_024177 disease not phenotype-associated
VAR_024178 commonName VAR_024178
VAR_024178 disease not phenotype-associated
VAR_024179 commonName VAR_024179
VAR_024179 disease not phenotype-associated
VAR_024180 commonName VAR_024180
VAR_024180 disease not phenotype-associated
VAR_024181 commonName VAR_024181
VAR_024181 disease not phenotype-associated
VAR_024182 commonName VAR_024182
VAR_024182 disease not phenotype-associated
VAR_024183 commonName VAR_024183
VAR_024183 disease not phenotype-associated
VAR_024184 commonName VAR_024184
VAR_024184 disease not phenotype-associated
VAR_024185 commonName VAR_024185
VAR_024185 disease not phenotype-associated
VAR_024186 commonName VAR_024186
VAR_024186 disease not phenotype-associated
VAR_024187 commonName VAR_024187
VAR_024187 disease not phenotype-associated
VAR_024188 commonName VAR_024188
VAR_024188 disease not phenotype-associated
VAR_024189 commonName VAR_024189
VAR_024189 disease not phenotype-associated
VAR_024190 commonName VAR_024190
VAR_024190 disease not phenotype-associated
VAR_024191 commonName VAR_024191
VAR_024191 disease not phenotype-associated
VAR_024192 commonName VAR_024192
VAR_024192 disease not phenotype-associated
VAR_024193 commonName VAR_024193
VAR_024193 disease not phenotype-associated
VAR_024194 commonName VAR_024194
VAR_024194 disease not phenotype-associated
VAR_024195 commonName VAR_024195
VAR_024195 disease not phenotype-associated
VAR_024196 commonName VAR_024196
VAR_024196 disease not phenotype-associated
VAR_024197 commonName VAR_024197
VAR_024197 disease not phenotype-associated
VAR_024198 commonName VAR_024198
VAR_024198 disease not phenotype-associated
VAR_024199 commonName VAR_024199
VAR_024199 disease not phenotype-associated
VAR_024200 commonName VAR_024200
VAR_024200 disease not phenotype-associated
VAR_024201 commonName VAR_024201
VAR_024201 disease not phenotype-associated
VAR_024202 commonName VAR_024202
VAR_024202 disease not phenotype-associated
VAR_024203 commonName VAR_024203
VAR_024203 disease not phenotype-associated
VAR_024204 commonName VAR_024204
VAR_024204 disease not phenotype-associated
VAR_024205 commonName VAR_024205
VAR_024205 disease not phenotype-associated
VAR_024206 commonName VAR_024206
VAR_024206 disease not phenotype-associated
VAR_024207 commonName VAR_024207
VAR_024207 disease not phenotype-associated
VAR_024208 commonName VAR_024208
VAR_024208 disease not phenotype-associated
VAR_024209 commonName VAR_024209
VAR_024209 disease not phenotype-associated
VAR_024210 commonName VAR_024210
VAR_024210 disease not phenotype-associated
VAR_024211 commonName VAR_024211
VAR_024211 disease not phenotype-associated
VAR_024212 commonName VAR_024212
VAR_024212 disease not phenotype-associated
VAR_024213 commonName VAR_024213
VAR_024213 disease not phenotype-associated
VAR_024214 commonName VAR_024214
VAR_024214 disease not phenotype-associated
VAR_024215 commonName VAR_024215
VAR_024215 disease not phenotype-associated
VAR_024217 commonName VAR_024217
VAR_024217 disease not phenotype-associated
VAR_024218 commonName VAR_024218
VAR_024218 disease not phenotype-associated
VAR_024219 commonName VAR_024219
VAR_024219 disease not phenotype-associated
VAR_024220 commonName VAR_024220
VAR_024220 disease not phenotype-associated
VAR_024221 commonName VAR_024221
VAR_024221 disease not phenotype-associated
VAR_024222 commonName VAR_024222
VAR_024222 disease not phenotype-associated
VAR_024223 commonName VAR_024223
VAR_024223 disease not phenotype-associated
VAR_024224 commonName VAR_024224
VAR_024224 disease not phenotype-associated
VAR_024225 commonName VAR_024225
VAR_024225 disease not phenotype-associated
VAR_024226 commonName VAR_024226
VAR_024226 disease not phenotype-associated
VAR_024227 commonName VAR_024227
VAR_024227 disease not phenotype-associated
VAR_024228 commonName VAR_024228
VAR_024228 disease not phenotype-associated
VAR_024229 commonName VAR_024229
VAR_024229 disease not phenotype-associated
VAR_024230 commonName VAR_024230
VAR_024230 disease not phenotype-associated
VAR_024231 commonName VAR_024231
VAR_024231 disease not phenotype-associated
VAR_024232 commonName VAR_024232
VAR_024232 disease not phenotype-associated
VAR_024233 commonName VAR_024233
VAR_024233 disease not phenotype-associated
VAR_024234 commonName VAR_024234
VAR_024234 disease not phenotype-associated
VAR_024235 commonName VAR_024235
VAR_024235 disease not phenotype-associated
VAR_024236 commonName VAR_024236
VAR_024236 disease not phenotype-associated
VAR_024237 commonName VAR_024237
VAR_024237 disease not phenotype-associated
VAR_024238 commonName VAR_024238
VAR_024238 disease not phenotype-associated
VAR_024239 commonName VAR_024239
VAR_024239 disease not phenotype-associated
VAR_024240 commonName VAR_024240
VAR_024240 disease not phenotype-associated
VAR_024241 commonName VAR_024241
VAR_024241 disease not phenotype-associated
VAR_024242 commonName VAR_024242
VAR_024242 disease not phenotype-associated
VAR_024243 commonName VAR_024243
VAR_024243 disease not phenotype-associated
VAR_024244 commonName VAR_024244
VAR_024244 disease not phenotype-associated
VAR_024245 commonName VAR_024245
VAR_024245 disease not phenotype-associated
VAR_024248 commonName VAR_024248
VAR_024248 disease not phenotype-associated
VAR_024250 commonName VAR_024250
VAR_024250 disease not phenotype-associated
VAR_024251 commonName VAR_024251
VAR_024251 disease not phenotype-associated
VAR_024252 commonName VAR_024252
VAR_024252 disease not phenotype-associated
VAR_024253 commonName VAR_024253
VAR_024253 disease not phenotype-associated
VAR_024254 commonName VAR_024254
VAR_024254 disease not phenotype-associated
VAR_024255 commonName VAR_024255
VAR_024255 disease not phenotype-associated
VAR_024256 commonName VAR_024256
VAR_024256 disease not phenotype-associated
VAR_024257 commonName VAR_024257
VAR_024257 disease not phenotype-associated
VAR_024258 commonName VAR_024258
VAR_024258 disease not phenotype-associated
VAR_024259 commonName VAR_024259
VAR_024259 disease not phenotype-associated
VAR_024260 commonName VAR_024260
VAR_024260 disease not phenotype-associated
VAR_024261 commonName VAR_024261
VAR_024261 disease not phenotype-associated
VAR_024262 commonName VAR_024262
VAR_024262 disease not phenotype-associated
VAR_024263 commonName VAR_024263
VAR_024263 disease not phenotype-associated
VAR_024264 commonName VAR_024264
VAR_024264 disease not phenotype-associated
VAR_024265 commonName VAR_024265
VAR_024265 disease not phenotype-associated
VAR_024266 commonName VAR_024266
VAR_024266 disease not phenotype-associated
VAR_024267 commonName VAR_024267
VAR_024267 disease not phenotype-associated
VAR_024268 commonName VAR_024268
VAR_024268 disease not phenotype-associated
VAR_024269 commonName VAR_024269
VAR_024269 disease not phenotype-associated
VAR_024271 commonName VAR_024271
VAR_024271 disease not phenotype-associated
VAR_024272 commonName VAR_024272
VAR_024272 disease not phenotype-associated
VAR_024277 commonName VAR_024277
VAR_024277 disease not phenotype-associated
VAR_024278 commonName VAR_024278
VAR_024278 disease not phenotype-associated
VAR_024279 commonName VAR_024279
VAR_024279 disease not phenotype-associated
VAR_024280 commonName VAR_024280
VAR_024280 disease not phenotype-associated
VAR_024281 commonName VAR_024281
VAR_024281 disease not phenotype-associated
VAR_024282 commonName VAR_024282
VAR_024282 disease not phenotype-associated
VAR_024283 commonName VAR_024283
VAR_024283 disease not phenotype-associated
VAR_024284 commonName VAR_024284
VAR_024284 disease not phenotype-associated
VAR_024285 commonName VAR_024285
VAR_024285 disease not phenotype-associated
VAR_024286 commonName VAR_024286
VAR_024286 disease not phenotype-associated
VAR_024287 commonName VAR_024287
VAR_024287 disease not phenotype-associated
VAR_024288 commonName VAR_024288
VAR_024288 disease not phenotype-associated
VAR_024289 commonName VAR_024289
VAR_024289 disease not phenotype-associated
VAR_024290 commonName VAR_024290
VAR_024290 disease not phenotype-associated
VAR_024291 commonName VAR_024291
VAR_024291 disease not phenotype-associated
VAR_024292 commonName VAR_024292
VAR_024292 disease not phenotype-associated
VAR_024293 commonName VAR_024293
VAR_024293 disease not phenotype-associated
VAR_024294 commonName VAR_024294
VAR_024294 disease not phenotype-associated
VAR_024295 commonName VAR_024295
VAR_024295 disease not phenotype-associated
VAR_024296 commonName VAR_024296
VAR_024296 disease not phenotype-associated
VAR_024297 commonName VAR_024297
VAR_024297 disease not phenotype-associated
VAR_024298 commonName VAR_024298
VAR_024298 disease not phenotype-associated
VAR_024299 commonName VAR_024299
VAR_024299 disease not phenotype-associated
VAR_024300 commonName VAR_024300
VAR_024300 disease not phenotype-associated
VAR_024301 commonName VAR_024301
VAR_024301 disease not phenotype-associated
VAR_024302 commonName VAR_024302
VAR_024302 disease not phenotype-associated
VAR_024303 commonName VAR_024303
VAR_024303 disease not phenotype-associated
VAR_024306 commonName VAR_024306
VAR_024306 disease not phenotype-associated
VAR_024307 commonName VAR_024307
VAR_024307 disease not phenotype-associated
VAR_024308 commonName VAR_024308
VAR_024308 disease not phenotype-associated
VAR_024309 commonName VAR_024309
VAR_024309 disease not phenotype-associated
VAR_024310 commonName VAR_024310
VAR_024310 disease not phenotype-associated
VAR_024311 commonName VAR_024311
VAR_024311 disease not phenotype-associated
VAR_024312 commonName VAR_024312
VAR_024312 disease not phenotype-associated
VAR_024313 commonName VAR_024313
VAR_024313 disease not phenotype-associated
VAR_024314 commonName VAR_024314
VAR_024314 disease not phenotype-associated
VAR_024315 commonName VAR_024315
VAR_024315 disease not phenotype-associated
VAR_024316 commonName VAR_024316
VAR_024316 disease not phenotype-associated
VAR_024317 commonName VAR_024317
VAR_024317 disease not phenotype-associated
VAR_024318 commonName VAR_024318
VAR_024318 disease not phenotype-associated
VAR_024319 commonName VAR_024319
VAR_024319 disease not phenotype-associated
VAR_024320 commonName VAR_024320
VAR_024320 disease not phenotype-associated
VAR_024322 commonName VAR_024322
VAR_024322 disease not phenotype-associated
VAR_024323 commonName VAR_024323
VAR_024323 disease phenotype-associated
VAR_024323 phenoCommon Visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376]
VAR_024324 commonName VAR_024324
VAR_024324 disease not phenotype-associated
VAR_024325 commonName VAR_024325
VAR_024325 disease not phenotype-associated
VAR_024326 commonName VAR_024326
VAR_024326 disease not phenotype-associated
VAR_024327 commonName VAR_024327
VAR_024327 disease not phenotype-associated
VAR_024328 commonName VAR_024328
VAR_024328 disease not phenotype-associated
VAR_024329 commonName VAR_024329
VAR_024329 disease not phenotype-associated
VAR_024330 commonName VAR_024330
VAR_024330 disease not phenotype-associated
VAR_024331 commonName VAR_024331
VAR_024331 disease not phenotype-associated
VAR_024332 commonName VAR_024332
VAR_024332 disease not phenotype-associated
VAR_024333 commonName VAR_024333
VAR_024333 disease not phenotype-associated
VAR_024334 commonName VAR_024334
VAR_024334 disease not phenotype-associated
VAR_024335 commonName VAR_024335
VAR_024335 disease not phenotype-associated
VAR_024336 commonName VAR_024336
VAR_024336 disease not phenotype-associated
VAR_024337 commonName VAR_024337
VAR_024337 disease not phenotype-associated
VAR_024338 commonName VAR_024338
VAR_024338 disease not phenotype-associated
VAR_024341 commonName VAR_024341
VAR_024341 disease not phenotype-associated
VAR_024342 commonName VAR_024342
VAR_024342 disease not phenotype-associated
VAR_024343 commonName VAR_024343
VAR_024343 disease not phenotype-associated
VAR_024344 commonName VAR_024344
VAR_024344 disease not phenotype-associated
VAR_024345 commonName VAR_024345
VAR_024345 disease not phenotype-associated
VAR_024346 commonName VAR_024346
VAR_024346 disease not phenotype-associated
VAR_024347 commonName VAR_024347
VAR_024347 disease not phenotype-associated
VAR_024348 commonName VAR_024348
VAR_024348 disease not phenotype-associated
VAR_024349 commonName VAR_024349
VAR_024349 disease not phenotype-associated
VAR_024350 commonName VAR_024350
VAR_024350 disease not phenotype-associated
VAR_024351 commonName VAR_024351
VAR_024351 disease not phenotype-associated
VAR_024352 commonName VAR_024352
VAR_024352 disease not phenotype-associated
VAR_024353 commonName VAR_024353
VAR_024353 disease not phenotype-associated
VAR_024354 commonName VAR_024354
VAR_024354 disease not phenotype-associated
VAR_024355 commonName VAR_024355
VAR_024355 disease not phenotype-associated
VAR_024357 commonName VAR_024357
VAR_024357 disease not phenotype-associated
VAR_024358 commonName VAR_024358
VAR_024358 disease not phenotype-associated
VAR_024359 commonName VAR_024359
VAR_024359 disease not phenotype-associated
VAR_024360 commonName VAR_024360
VAR_024360 disease not phenotype-associated
VAR_024361 commonName VAR_024361
VAR_024361 disease not phenotype-associated
VAR_024362 commonName VAR_024362
VAR_024362 disease not phenotype-associated
VAR_024363 commonName VAR_024363
VAR_024363 disease not phenotype-associated
VAR_024364 commonName VAR_024364
VAR_024364 disease not phenotype-associated
VAR_024365 commonName VAR_024365
VAR_024365 disease not phenotype-associated
VAR_024366 commonName VAR_024366
VAR_024366 disease not phenotype-associated
VAR_024367 commonName VAR_024367
VAR_024367 disease not phenotype-associated
VAR_024368 commonName VAR_024368
VAR_024368 disease not phenotype-associated
VAR_024369 commonName VAR_024369
VAR_024369 disease not phenotype-associated
VAR_024370 commonName VAR_024370
VAR_024370 disease not phenotype-associated
VAR_024371 commonName VAR_024371
VAR_024371 disease not phenotype-associated
VAR_024372 commonName VAR_024372
VAR_024372 disease not phenotype-associated
VAR_024373 commonName VAR_024373
VAR_024373 disease not phenotype-associated
VAR_024374 commonName VAR_024374
VAR_024374 disease not phenotype-associated
VAR_024375 commonName VAR_024375
VAR_024375 disease not phenotype-associated
VAR_024376 commonName VAR_024376
VAR_024376 disease not phenotype-associated
VAR_024377 commonName VAR_024377
VAR_024377 disease not phenotype-associated
VAR_024379 commonName VAR_024379
VAR_024379 disease not phenotype-associated
VAR_024380 commonName VAR_024380
VAR_024380 disease not phenotype-associated
VAR_024381 commonName VAR_024381
VAR_024381 disease not phenotype-associated
VAR_024383 commonName VAR_024383
VAR_024383 disease not phenotype-associated
VAR_024385 commonName VAR_024385
VAR_024385 disease not phenotype-associated
VAR_024386 commonName VAR_024386
VAR_024386 disease not phenotype-associated
VAR_024387 commonName VAR_024387
VAR_024387 disease not phenotype-associated
VAR_024388 commonName VAR_024388
VAR_024388 disease not phenotype-associated
VAR_024389 commonName VAR_024389
VAR_024389 disease not phenotype-associated
VAR_024390 commonName VAR_024390
VAR_024390 disease not phenotype-associated
VAR_024391 commonName VAR_024391
VAR_024391 disease not phenotype-associated
VAR_024392 commonName VAR_024392
VAR_024392 disease not phenotype-associated
VAR_024393 commonName VAR_024393
VAR_024393 disease not phenotype-associated
VAR_024394 commonName VAR_024394
VAR_024394 disease not phenotype-associated
VAR_024395 commonName VAR_024395
VAR_024395 disease not phenotype-associated
VAR_024396 commonName VAR_024396
VAR_024396 disease not phenotype-associated
VAR_024397 commonName VAR_024397
VAR_024397 disease not phenotype-associated
VAR_024398 commonName VAR_024398
VAR_024398 disease not phenotype-associated
VAR_024400 commonName VAR_024400
VAR_024400 disease not phenotype-associated
VAR_024401 commonName VAR_024401
VAR_024401 disease not phenotype-associated
VAR_024402 commonName VAR_024402
VAR_024402 disease not phenotype-associated
VAR_024403 commonName VAR_024403
VAR_024403 disease not phenotype-associated
VAR_024404 commonName VAR_024404
VAR_024404 disease not phenotype-associated
VAR_024405 commonName VAR_024405
VAR_024405 disease not phenotype-associated
VAR_024406 commonName VAR_024406
VAR_024406 disease not phenotype-associated
VAR_024407 commonName VAR_024407
VAR_024407 disease not phenotype-associated
VAR_024408 commonName VAR_024408
VAR_024408 disease not phenotype-associated
VAR_024409 commonName VAR_024409
VAR_024409 disease not phenotype-associated
VAR_024410 commonName VAR_024410
VAR_024410 disease not phenotype-associated
VAR_024411 commonName VAR_024411
VAR_024411 disease not phenotype-associated
VAR_024412 commonName VAR_024412
VAR_024412 disease not phenotype-associated
VAR_024413 commonName VAR_024413
VAR_024413 disease not phenotype-associated
VAR_024414 commonName VAR_024414
VAR_024414 disease not phenotype-associated
VAR_024415 commonName VAR_024415
VAR_024415 disease not phenotype-associated
VAR_024416 commonName VAR_024416
VAR_024416 disease not phenotype-associated
VAR_024417 commonName VAR_024417
VAR_024417 disease not phenotype-associated
VAR_024418 commonName VAR_024418
VAR_024418 disease not phenotype-associated
VAR_024419 commonName VAR_024419
VAR_024419 disease not phenotype-associated
VAR_024420 commonName VAR_024420
VAR_024420 disease not phenotype-associated
VAR_024421 commonName VAR_024421
VAR_024421 disease not phenotype-associated
VAR_024422 commonName VAR_024422
VAR_024422 disease not phenotype-associated
VAR_024423 commonName VAR_024423
VAR_024423 disease not phenotype-associated
VAR_024424 commonName VAR_024424
VAR_024424 disease not phenotype-associated
VAR_024425 commonName VAR_024425
VAR_024425 disease not phenotype-associated
VAR_024426 commonName VAR_024426
VAR_024426 disease not phenotype-associated
VAR_024427 commonName VAR_024427
VAR_024427 disease not phenotype-associated
VAR_024428 commonName VAR_024428
VAR_024428 disease not phenotype-associated
VAR_024429 commonName VAR_024429
VAR_024429 disease not phenotype-associated
VAR_024430 commonName VAR_024430
VAR_024430 disease not phenotype-associated
VAR_024431 commonName VAR_024431
VAR_024431 disease not phenotype-associated
VAR_024432 commonName VAR_024432
VAR_024432 disease not phenotype-associated
VAR_024433 commonName VAR_024433
VAR_024433 disease not phenotype-associated
VAR_024434 commonName VAR_024434
VAR_024434 disease not phenotype-associated
VAR_024435 commonName VAR_024435
VAR_024435 disease not phenotype-associated
VAR_024436 commonName VAR_024436
VAR_024436 disease not phenotype-associated
VAR_024437 commonName VAR_024437
VAR_024437 disease not phenotype-associated
VAR_024438 commonName VAR_024438
VAR_024438 disease not phenotype-associated
VAR_024439 commonName VAR_024439
VAR_024439 disease not phenotype-associated
VAR_024440 commonName VAR_024440
VAR_024440 disease not phenotype-associated
VAR_024441 commonName VAR_024441
VAR_024441 disease not phenotype-associated
VAR_024442 commonName VAR_024442
VAR_024442 disease not phenotype-associated
VAR_024443 commonName VAR_024443
VAR_024443 disease not phenotype-associated
VAR_024444 commonName VAR_024444
VAR_024444 disease not phenotype-associated
VAR_024445 commonName VAR_024445
VAR_024445 disease not phenotype-associated
VAR_024446 commonName VAR_024446
VAR_024446 disease not phenotype-associated
VAR_024447 commonName VAR_024447
VAR_024447 disease not phenotype-associated
VAR_024448 commonName VAR_024448
VAR_024448 disease not phenotype-associated
VAR_024449 commonName VAR_024449
VAR_024449 disease not phenotype-associated
VAR_024450 commonName VAR_024450
VAR_024450 disease not phenotype-associated
VAR_024451 commonName VAR_024451
VAR_024451 disease not phenotype-associated
VAR_024452 commonName VAR_024452
VAR_024452 disease not phenotype-associated
VAR_024453 commonName VAR_024453
VAR_024453 disease not phenotype-associated
VAR_024454 commonName VAR_024454
VAR_024454 disease not phenotype-associated
VAR_024455 commonName VAR_024455
VAR_024455 disease not phenotype-associated
VAR_024456 commonName VAR_024456
VAR_024456 disease not phenotype-associated
VAR_024457 commonName VAR_024457
VAR_024457 disease not phenotype-associated
VAR_024458 commonName VAR_024458
VAR_024458 disease not phenotype-associated
VAR_024459 commonName VAR_024459
VAR_024459 disease not phenotype-associated
VAR_024460 commonName VAR_024460
VAR_024460 disease not phenotype-associated
VAR_024461 commonName VAR_024461
VAR_024461 disease not phenotype-associated
VAR_024462 commonName VAR_024462
VAR_024462 disease not phenotype-associated
VAR_024463 commonName VAR_024463
VAR_024463 disease not phenotype-associated
VAR_024464 commonName VAR_024464
VAR_024464 disease not phenotype-associated
VAR_024465 commonName VAR_024465
VAR_024465 disease not phenotype-associated
VAR_024466 commonName VAR_024466
VAR_024466 disease not phenotype-associated
VAR_024468 commonName VAR_024468
VAR_024468 disease not phenotype-associated
VAR_024471 commonName VAR_024471
VAR_024471 disease not phenotype-associated
VAR_024472 commonName VAR_024472
VAR_024472 disease not phenotype-associated
VAR_024473 commonName VAR_024473
VAR_024473 disease not phenotype-associated
VAR_024474 commonName VAR_024474
VAR_024474 disease not phenotype-associated
VAR_024475 commonName VAR_024475
VAR_024475 disease not phenotype-associated
VAR_024476 commonName VAR_024476
VAR_024476 disease not phenotype-associated
VAR_024477 commonName VAR_024477
VAR_024477 disease not phenotype-associated
VAR_024478 commonName VAR_024478
VAR_024478 disease not phenotype-associated
VAR_024479 commonName VAR_024479
VAR_024479 disease not phenotype-associated
VAR_024480 commonName VAR_024480
VAR_024480 disease not phenotype-associated
VAR_024481 commonName VAR_024481
VAR_024481 disease not phenotype-associated
VAR_024482 commonName VAR_024482
VAR_024482 disease not phenotype-associated
VAR_024483 commonName VAR_024483
VAR_024483 disease not phenotype-associated
VAR_024484 commonName VAR_024484
VAR_024484 disease not phenotype-associated
VAR_024485 commonName VAR_024485
VAR_024485 disease not phenotype-associated
VAR_024487 commonName VAR_024487
VAR_024487 disease not phenotype-associated
VAR_024488 commonName VAR_024488
VAR_024488 disease not phenotype-associated
VAR_024489 commonName VAR_024489
VAR_024489 disease not phenotype-associated
VAR_024490 commonName VAR_024490
VAR_024490 disease not phenotype-associated
VAR_024491 commonName VAR_024491
VAR_024491 disease not phenotype-associated
VAR_024492 commonName VAR_024492
VAR_024492 disease not phenotype-associated
VAR_024493 commonName VAR_024493
VAR_024493 disease not phenotype-associated
VAR_024494 commonName VAR_024494
VAR_024494 disease not phenotype-associated
VAR_024495 commonName VAR_024495
VAR_024495 disease not phenotype-associated
VAR_024496 commonName VAR_024496
VAR_024496 disease not phenotype-associated
VAR_024497 commonName VAR_024497
VAR_024497 disease not phenotype-associated
VAR_024499 commonName VAR_024499
VAR_024499 disease not phenotype-associated
VAR_024501 commonName VAR_024501
VAR_024501 disease not phenotype-associated
VAR_024502 commonName VAR_024502
VAR_024502 disease not phenotype-associated
VAR_024503 commonName VAR_024503
VAR_024503 disease not phenotype-associated
VAR_024504 commonName VAR_024504
VAR_024504 disease not phenotype-associated
VAR_024505 commonName VAR_024505
VAR_024505 disease not phenotype-associated
VAR_024506 commonName VAR_024506
VAR_024506 disease not phenotype-associated
VAR_024508 commonName VAR_024508
VAR_024508 disease not phenotype-associated
VAR_024509 commonName VAR_024509
VAR_024509 disease not phenotype-associated
VAR_024510 commonName VAR_024510
VAR_024510 disease not phenotype-associated
VAR_024511 commonName VAR_024511
VAR_024511 disease not phenotype-associated
VAR_024512 commonName VAR_024512
VAR_024512 disease not phenotype-associated
VAR_024513 commonName VAR_024513
VAR_024513 disease not phenotype-associated
VAR_024514 commonName VAR_024514
VAR_024514 disease not phenotype-associated
VAR_024515 commonName VAR_024515
VAR_024515 disease not phenotype-associated
VAR_024516 commonName VAR_024516
VAR_024516 disease not phenotype-associated
VAR_024517 commonName VAR_024517
VAR_024517 disease not phenotype-associated
VAR_024518 commonName VAR_024518
VAR_024518 disease not phenotype-associated
VAR_024519 commonName VAR_024519
VAR_024519 disease not phenotype-associated
VAR_024520 commonName VAR_024520
VAR_024520 disease not phenotype-associated
VAR_024521 commonName VAR_024521
VAR_024521 disease not phenotype-associated
VAR_024522 commonName VAR_024522
VAR_024522 disease not phenotype-associated
VAR_024526 commonName VAR_024526
VAR_024526 disease not phenotype-associated
VAR_024527 commonName VAR_024527
VAR_024527 disease not phenotype-associated
VAR_024528 commonName VAR_024528
VAR_024528 disease not phenotype-associated
VAR_024529 commonName VAR_024529
VAR_024529 disease not phenotype-associated
VAR_024530 commonName VAR_024530
VAR_024530 disease not phenotype-associated
VAR_024531 commonName VAR_024531
VAR_024531 disease not phenotype-associated
VAR_024532 commonName VAR_024532
VAR_024532 disease not phenotype-associated
VAR_024533 commonName VAR_024533
VAR_024533 disease not phenotype-associated
VAR_024534 commonName VAR_024534
VAR_024534 disease not phenotype-associated
VAR_024535 commonName VAR_024535
VAR_024535 disease not phenotype-associated
VAR_024536 commonName VAR_024536
VAR_024536 disease not phenotype-associated
VAR_024537 commonName VAR_024537
VAR_024537 disease not phenotype-associated
VAR_024539 commonName VAR_024539
VAR_024539 disease not phenotype-associated
VAR_024540 commonName VAR_024540
VAR_024540 disease not phenotype-associated
VAR_024541 commonName VAR_024541
VAR_024541 disease not phenotype-associated
VAR_024542 commonName VAR_024542
VAR_024542 disease not phenotype-associated
VAR_024543 commonName VAR_024543
VAR_024543 disease not phenotype-associated
VAR_024544 commonName VAR_024544
VAR_024544 disease not phenotype-associated
VAR_024545 commonName VAR_024545
VAR_024545 disease not phenotype-associated
VAR_024546 commonName VAR_024546
VAR_024546 disease not phenotype-associated
VAR_024547 commonName VAR_024547
VAR_024547 disease not phenotype-associated
VAR_024548 commonName VAR_024548
VAR_024548 disease not phenotype-associated
VAR_024549 commonName VAR_024549
VAR_024549 disease not phenotype-associated
VAR_024551 commonName VAR_024551
VAR_024551 disease not phenotype-associated
VAR_024552 commonName VAR_024552
VAR_024552 disease not phenotype-associated
VAR_024553 commonName VAR_024553
VAR_024553 disease not phenotype-associated
VAR_024554 commonName VAR_024554
VAR_024554 disease not phenotype-associated
VAR_024555 commonName VAR_024555
VAR_024555 disease not phenotype-associated
VAR_024556 commonName VAR_024556
VAR_024556 disease not phenotype-associated
VAR_024557 commonName VAR_024557
VAR_024557 disease not phenotype-associated
VAR_024559 commonName VAR_024559
VAR_024559 disease not phenotype-associated
VAR_024560 commonName VAR_024560
VAR_024560 disease not phenotype-associated
VAR_024561 commonName VAR_024561
VAR_024561 disease not phenotype-associated
VAR_024562 commonName VAR_024562
VAR_024562 disease not phenotype-associated
VAR_024563 commonName VAR_024563
VAR_024563 disease not phenotype-associated
VAR_024564 commonName VAR_024564
VAR_024564 disease not phenotype-associated
VAR_024565 commonName VAR_024565
VAR_024565 disease not phenotype-associated
VAR_024566 commonName VAR_024566
VAR_024566 disease not phenotype-associated
VAR_024567 commonName VAR_024567
VAR_024567 disease not phenotype-associated
VAR_024568 commonName VAR_024568
VAR_024568 disease not phenotype-associated
VAR_024569 commonName VAR_024569
VAR_024569 disease not phenotype-associated
VAR_024570 commonName VAR_024570
VAR_024570 disease not phenotype-associated
VAR_024571 commonName VAR_024571
VAR_024571 disease not phenotype-associated
VAR_024573 commonName VAR_024573
VAR_024573 disease not phenotype-associated
VAR_024574 commonName VAR_024574
VAR_024574 disease not phenotype-associated
VAR_024575 commonName VAR_024575
VAR_024575 disease not phenotype-associated
VAR_024577 commonName VAR_024577
VAR_024577 disease not phenotype-associated
VAR_024578 commonName VAR_024578
VAR_024578 disease not phenotype-associated
VAR_024579 commonName VAR_024579
VAR_024579 disease not phenotype-associated
VAR_024580 commonName VAR_024580
VAR_024580 disease not phenotype-associated
VAR_024581 commonName VAR_024581
VAR_024581 disease not phenotype-associated
VAR_024582 commonName VAR_024582
VAR_024582 disease not phenotype-associated
VAR_024583 commonName VAR_024583
VAR_024583 disease not phenotype-associated
VAR_024584 commonName VAR_024584
VAR_024584 disease not phenotype-associated
VAR_024585 commonName VAR_024585
VAR_024585 disease not phenotype-associated
VAR_024586 commonName VAR_024586
VAR_024586 disease not phenotype-associated
VAR_024587 commonName VAR_024587
VAR_024587 disease not phenotype-associated
VAR_024588 commonName VAR_024588
VAR_024588 disease not phenotype-associated
VAR_024589 commonName VAR_024589
VAR_024589 disease not phenotype-associated
VAR_024590 commonName VAR_024590
VAR_024590 disease not phenotype-associated
VAR_024591 commonName VAR_024591
VAR_024591 disease not phenotype-associated
VAR_024592 commonName VAR_024592
VAR_024592 disease not phenotype-associated
VAR_024593 commonName VAR_024593
VAR_024593 disease not phenotype-associated
VAR_024594 commonName VAR_024594
VAR_024594 disease not phenotype-associated
VAR_024595 commonName VAR_024595
VAR_024595 disease not phenotype-associated
VAR_024597 commonName VAR_024597
VAR_024597 disease not phenotype-associated
VAR_024598 commonName VAR_024598
VAR_024598 disease not phenotype-associated
VAR_024599 commonName VAR_024599
VAR_024599 disease not phenotype-associated
VAR_024600 commonName VAR_024600
VAR_024600 disease not phenotype-associated
VAR_024601 commonName VAR_024601
VAR_024601 disease not phenotype-associated
VAR_024602 commonName VAR_024602
VAR_024602 disease not phenotype-associated
VAR_024603 commonName VAR_024603
VAR_024603 disease not phenotype-associated
VAR_024604 commonName VAR_024604
VAR_024604 disease not phenotype-associated
VAR_024605 commonName VAR_024605
VAR_024605 disease not phenotype-associated
VAR_024607 commonName VAR_024607
VAR_024607 disease not phenotype-associated
VAR_024608 commonName VAR_024608
VAR_024608 disease not phenotype-associated
VAR_024609 commonName VAR_024609
VAR_024609 disease not phenotype-associated
VAR_024610 commonName VAR_024610
VAR_024610 disease not phenotype-associated
VAR_024611 commonName VAR_024611
VAR_024611 disease not phenotype-associated
VAR_024612 commonName VAR_024612
VAR_024612 disease not phenotype-associated
VAR_024613 commonName VAR_024613
VAR_024613 disease not phenotype-associated
VAR_024614 commonName VAR_024614
VAR_024614 disease not phenotype-associated
VAR_024615 commonName VAR_024615
VAR_024615 disease not phenotype-associated
VAR_024616 commonName VAR_024616
VAR_024616 disease not phenotype-associated
VAR_024617 commonName VAR_024617
VAR_024617 disease not phenotype-associated
VAR_024618 commonName VAR_024618
VAR_024618 disease not phenotype-associated
VAR_024619 commonName VAR_024619
VAR_024619 disease not phenotype-associated
VAR_024620 commonName VAR_024620
VAR_024620 disease not phenotype-associated
VAR_024621 commonName VAR_024621
VAR_024621 disease not phenotype-associated
VAR_024623 commonName VAR_024623
VAR_024623 disease not phenotype-associated
VAR_024624 commonName VAR_024624
VAR_024624 disease not phenotype-associated
VAR_024625 commonName VAR_024625
VAR_024625 disease not phenotype-associated
VAR_024626 commonName VAR_024626
VAR_024626 disease not phenotype-associated
VAR_024627 commonName VAR_024627
VAR_024627 disease not phenotype-associated
VAR_024628 commonName VAR_024628
VAR_024628 disease not phenotype-associated
VAR_024629 commonName VAR_024629
VAR_024629 disease not phenotype-associated
VAR_024630 commonName VAR_024630
VAR_024630 disease not phenotype-associated
VAR_024631 commonName VAR_024631
VAR_024631 disease not phenotype-associated
VAR_024632 commonName VAR_024632
VAR_024632 disease not phenotype-associated
VAR_024633 commonName VAR_024633
VAR_024633 disease not phenotype-associated
VAR_024634 commonName VAR_024634
VAR_024634 disease not phenotype-associated
VAR_024635 commonName VAR_024635
VAR_024635 disease not phenotype-associated
VAR_024636 commonName VAR_024636
VAR_024636 disease not phenotype-associated
VAR_024637 commonName VAR_024637
VAR_024637 disease not phenotype-associated
VAR_024638 commonName VAR_024638
VAR_024638 disease not phenotype-associated
VAR_024639 commonName VAR_024639
VAR_024639 disease not phenotype-associated
VAR_024640 commonName VAR_024640
VAR_024640 disease not phenotype-associated
VAR_024641 commonName VAR_024641
VAR_024641 disease not phenotype-associated
VAR_024642 commonName VAR_024642
VAR_024642 disease not phenotype-associated
VAR_024643 commonName VAR_024643
VAR_024643 disease not phenotype-associated
VAR_024644 commonName VAR_024644
VAR_024644 disease not phenotype-associated
VAR_024645 commonName VAR_024645
VAR_024645 disease not phenotype-associated
VAR_024646 commonName VAR_024646
VAR_024646 disease not phenotype-associated
VAR_024647 commonName VAR_024647
VAR_024647 disease not phenotype-associated
VAR_024648 commonName VAR_024648
VAR_024648 disease not phenotype-associated
VAR_024649 commonName VAR_024649
VAR_024649 disease not phenotype-associated
VAR_024650 commonName VAR_024650
VAR_024650 disease not phenotype-associated
VAR_024651 commonName VAR_024651
VAR_024651 disease not phenotype-associated
VAR_024652 commonName VAR_024652
VAR_024652 disease not phenotype-associated
VAR_024653 commonName VAR_024653
VAR_024653 disease not phenotype-associated
VAR_024655 commonName VAR_024655
VAR_024655 disease not phenotype-associated
VAR_024656 commonName VAR_024656
VAR_024656 disease not phenotype-associated
VAR_024657 commonName VAR_024657
VAR_024657 disease not phenotype-associated
VAR_024658 commonName VAR_024658
VAR_024658 disease not phenotype-associated
VAR_024659 commonName VAR_024659
VAR_024659 disease not phenotype-associated
VAR_024660 commonName VAR_024660
VAR_024660 disease not phenotype-associated
VAR_024661 commonName VAR_024661
VAR_024661 disease not phenotype-associated
VAR_024662 commonName VAR_024662
VAR_024662 disease not phenotype-associated
VAR_024663 commonName VAR_024663
VAR_024663 disease not phenotype-associated
VAR_024665 commonName VAR_024665
VAR_024665 disease not phenotype-associated
VAR_024667 commonName VAR_024667
VAR_024667 disease not phenotype-associated
VAR_024668 commonName VAR_024668
VAR_024668 disease not phenotype-associated
VAR_024669 commonName VAR_024669
VAR_024669 disease not phenotype-associated
VAR_024670 commonName VAR_024670
VAR_024670 disease not phenotype-associated
VAR_024671 commonName VAR_024671
VAR_024671 disease not phenotype-associated
VAR_024672 commonName VAR_024672
VAR_024672 disease not phenotype-associated
VAR_024673 commonName VAR_024673
VAR_024673 disease not phenotype-associated
VAR_024674 commonName VAR_024674
VAR_024674 disease not phenotype-associated
VAR_024675 commonName VAR_024675
VAR_024675 disease not phenotype-associated
VAR_024677 commonName VAR_024677
VAR_024677 disease not phenotype-associated
VAR_024678 commonName VAR_024678
VAR_024678 disease not phenotype-associated
VAR_024679 commonName VAR_024679
VAR_024679 disease not phenotype-associated
VAR_024680 commonName VAR_024680
VAR_024680 disease not phenotype-associated
VAR_024683 commonName VAR_024683
VAR_024683 disease not phenotype-associated
VAR_024684 commonName VAR_024684
VAR_024684 disease not phenotype-associated
VAR_024685 commonName VAR_024685
VAR_024685 disease not phenotype-associated
VAR_024686 commonName VAR_024686
VAR_024686 disease not phenotype-associated
VAR_024687 commonName VAR_024687
VAR_024687 disease not phenotype-associated
VAR_024689 commonName VAR_024689
VAR_024689 disease not phenotype-associated
VAR_024690 commonName VAR_024690
VAR_024690 disease not phenotype-associated
VAR_024691 commonName VAR_024691
VAR_024691 disease not phenotype-associated
VAR_024692 commonName VAR_024692
VAR_024692 disease not phenotype-associated
VAR_024693 commonName VAR_024693
VAR_024693 disease not phenotype-associated
VAR_024694 commonName VAR_024694
VAR_024694 disease not phenotype-associated
VAR_024695 commonName VAR_024695
VAR_024695 disease not phenotype-associated
VAR_024696 commonName VAR_024696
VAR_024696 disease not phenotype-associated
VAR_024697 commonName VAR_024697
VAR_024697 disease not phenotype-associated
VAR_024698 commonName VAR_024698
VAR_024698 disease not phenotype-associated
VAR_024699 commonName VAR_024699
VAR_024699 disease not phenotype-associated
VAR_024700 commonName VAR_024700
VAR_024700 disease not phenotype-associated
VAR_024701 commonName VAR_024701
VAR_024701 disease not phenotype-associated
VAR_024702 commonName VAR_024702
VAR_024702 disease not phenotype-associated
VAR_024703 commonName VAR_024703
VAR_024703 disease not phenotype-associated
VAR_024704 commonName VAR_024704
VAR_024704 disease not phenotype-associated
VAR_024705 commonName VAR_024705
VAR_024705 disease not phenotype-associated
VAR_024706 commonName VAR_024706
VAR_024706 disease not phenotype-associated
VAR_024707 commonName VAR_024707
VAR_024707 disease not phenotype-associated
VAR_024708 commonName VAR_024708
VAR_024708 disease not phenotype-associated
VAR_024711 commonName VAR_024711
VAR_024711 disease not phenotype-associated
VAR_024712 commonName VAR_024712
VAR_024712 disease not phenotype-associated
VAR_024713 commonName VAR_024713
VAR_024713 disease not phenotype-associated
VAR_024714 commonName VAR_024714
VAR_024714 disease not phenotype-associated
VAR_024715 commonName VAR_024715
VAR_024715 disease not phenotype-associated
VAR_024716 commonName VAR_024716
VAR_024716 disease not phenotype-associated
VAR_024717 commonName VAR_024717
VAR_024717 disease not phenotype-associated
VAR_024718 commonName VAR_024718
VAR_024718 disease not phenotype-associated
VAR_024719 commonName VAR_024719
VAR_024719 disease not phenotype-associated
VAR_024728 commonName VAR_024728
VAR_024728 disease not phenotype-associated
VAR_024729 commonName VAR_024729
VAR_024729 disease not phenotype-associated
VAR_024730 commonName VAR_024730
VAR_024730 disease not phenotype-associated
VAR_024731 commonName VAR_024731
VAR_024731 disease not phenotype-associated
VAR_024732 commonName VAR_024732
VAR_024732 disease not phenotype-associated
VAR_024733 commonName VAR_024733
VAR_024733 disease not phenotype-associated
VAR_024734 commonName VAR_024734
VAR_024734 disease not phenotype-associated
VAR_024735 commonName VAR_024735
VAR_024735 disease not phenotype-associated
VAR_024736 commonName VAR_024736
VAR_024736 disease not phenotype-associated
VAR_024737 commonName VAR_024737
VAR_024737 disease not phenotype-associated
VAR_024739 commonName VAR_024739
VAR_024739 disease not phenotype-associated
VAR_024740 commonName VAR_024740
VAR_024740 disease not phenotype-associated
VAR_024741 commonName VAR_024741
VAR_024741 disease phenotype-associated
VAR_024741 phenoCommon Johanson-Blizzard syndrome (JBS) [MIM:243800]
VAR_024743 commonName VAR_024743
VAR_024743 disease not phenotype-associated
VAR_024746 commonName VAR_024746
VAR_024746 disease not phenotype-associated
VAR_024747 commonName VAR_024747
VAR_024747 disease not phenotype-associated
VAR_024748 commonName VAR_024748
VAR_024748 disease not phenotype-associated
VAR_024749 commonName VAR_024749
VAR_024749 disease phenotype-associated
VAR_024749 phenoCommon Retinitis pigmentosa type 17 (RP17) [MIM:600852]
VAR_024750 commonName VAR_024750
VAR_024750 disease phenotype-associated
VAR_024750 phenoCommon Retinitis pigmentosa type 17 (RP17) [MIM:600852]
VAR_024751 commonName VAR_024751
VAR_024751 disease phenotype-associated
VAR_024751 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024752 commonName VAR_024752
VAR_024752 disease phenotype-associated
VAR_024752 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024753 commonName VAR_024753
VAR_024753 disease phenotype-associated
VAR_024753 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024754 commonName VAR_024754
VAR_024754 disease phenotype-associated
VAR_024754 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024755 commonName VAR_024755
VAR_024755 disease phenotype-associated
VAR_024755 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024756 commonName VAR_024756
VAR_024756 disease phenotype-associated
VAR_024756 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]
VAR_024757 commonName VAR_024757
VAR_024757 disease not phenotype-associated
VAR_024758 commonName VAR_024758
VAR_024758 disease not phenotype-associated
VAR_024759 commonName VAR_024759
VAR_024759 disease not phenotype-associated
VAR_024760 commonName VAR_024760
VAR_024760 disease not phenotype-associated
VAR_024762 commonName VAR_024762
VAR_024762 disease not phenotype-associated
VAR_024763 commonName VAR_024763
VAR_024763 disease not phenotype-associated
VAR_024764 commonName VAR_024764
VAR_024764 disease not phenotype-associated
VAR_024765 commonName VAR_024765
VAR_024765 disease phenotype-associated
VAR_024765 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]
VAR_024766 commonName VAR_024766
VAR_024766 disease phenotype-associated
VAR_024766 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]
VAR_024767 commonName VAR_024767
VAR_024767 disease not phenotype-associated
VAR_024768 commonName VAR_024768
VAR_024768 disease not phenotype-associated
VAR_024769 commonName VAR_024769
VAR_024769 disease not phenotype-associated
VAR_024770 commonName VAR_024770
VAR_024770 disease phenotype-associated
VAR_024770 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024771 commonName VAR_024771
VAR_024771 disease phenotype-associated
VAR_024771 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024772 commonName VAR_024772
VAR_024772 disease phenotype-associated
VAR_024772 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024773 commonName VAR_024773
VAR_024773 disease phenotype-associated
VAR_024773 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024774 commonName VAR_024774
VAR_024774 disease phenotype-associated
VAR_024774 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024775 commonName VAR_024775
VAR_024775 disease phenotype-associated
VAR_024775 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024776 commonName VAR_024776
VAR_024776 disease phenotype-associated
VAR_024776 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024777 commonName VAR_024777
VAR_024777 disease phenotype-associated
VAR_024777 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024778 commonName VAR_024778
VAR_024778 disease phenotype-associated
VAR_024778 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024779 commonName VAR_024779
VAR_024779 disease phenotype-associated
VAR_024779 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024780 commonName VAR_024780
VAR_024780 disease phenotype-associated
VAR_024780 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024781 commonName VAR_024781
VAR_024781 disease phenotype-associated
VAR_024781 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024782 commonName VAR_024782
VAR_024782 disease phenotype-associated
VAR_024782 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024783 commonName VAR_024783
VAR_024783 disease phenotype-associated
VAR_024783 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]
VAR_024784 commonName VAR_024784
VAR_024784 disease not phenotype-associated
VAR_024785 commonName VAR_024785
VAR_024785 disease not phenotype-associated
VAR_024786 commonName VAR_024786
VAR_024786 disease not phenotype-associated
VAR_024787 commonName VAR_024787
VAR_024787 disease not phenotype-associated
VAR_024788 commonName VAR_024788
VAR_024788 disease not phenotype-associated
VAR_024789 commonName VAR_024789
VAR_024789 disease not phenotype-associated
VAR_024790 commonName VAR_024790
VAR_024790 disease not phenotype-associated
VAR_024791 commonName VAR_024791
VAR_024791 disease not phenotype-associated
VAR_024792 commonName VAR_024792
VAR_024792 disease not phenotype-associated
VAR_024793 commonName VAR_024793
VAR_024793 disease not phenotype-associated
VAR_024794 commonName VAR_024794
VAR_024794 disease not phenotype-associated
VAR_024795 commonName VAR_024795
VAR_024795 disease not phenotype-associated
VAR_024796 comment A glioma sample
VAR_024796 commonName VAR_024796
VAR_024797 comment A glioma sample
VAR_024797 commonName VAR_024797
VAR_024798 commonName VAR_024798
VAR_024798 disease not phenotype-associated
VAR_024799 commonName VAR_024799
VAR_024799 disease not phenotype-associated
VAR_024800 commonName VAR_024800
VAR_024800 disease not phenotype-associated
VAR_024801 commonName VAR_024801
VAR_024801 disease not phenotype-associated
VAR_024802 commonName VAR_024802
VAR_024802 disease not phenotype-associated
VAR_024803 commonName VAR_024803
VAR_024803 disease not phenotype-associated
VAR_024804 commonName VAR_024804
VAR_024804 disease not phenotype-associated
VAR_024805 commonName VAR_024805
VAR_024805 disease not phenotype-associated
VAR_024806 commonName VAR_024806
VAR_024807 commonName VAR_024807
VAR_024807 disease not phenotype-associated
VAR_024808 commonName VAR_024808
VAR_024808 disease not phenotype-associated
VAR_024809 commonName VAR_024809
VAR_024809 disease not phenotype-associated
VAR_024810 commonName VAR_024810
VAR_024810 disease not phenotype-associated
VAR_024811 commonName VAR_024811
VAR_024811 disease not phenotype-associated
VAR_024812 commonName VAR_024812
VAR_024812 disease not phenotype-associated
VAR_024813 commonName VAR_024813
VAR_024813 disease not phenotype-associated
VAR_024814 commonName VAR_024814
VAR_024814 disease not phenotype-associated
VAR_024815 commonName VAR_024815
VAR_024815 disease not phenotype-associated
VAR_024816 commonName VAR_024816
VAR_024816 disease not phenotype-associated
VAR_024817 commonName VAR_024817
VAR_024817 disease not phenotype-associated
VAR_024818 commonName VAR_024818
VAR_024818 disease phenotype-associated
VAR_024818 phenoCommon Age-related macular degeneration type 1 (ARMD1) [MIM:603075]
VAR_024819 commonName VAR_024819
VAR_024819 disease phenotype-associated
VAR_024819 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_024820 commonName VAR_024820
VAR_024820 disease phenotype-associated
VAR_024820 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_024821 commonName VAR_024821
VAR_024821 disease phenotype-associated
VAR_024821 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_024822 commonName VAR_024822
VAR_024822 disease phenotype-associated
VAR_024822 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
VAR_024823 commonName VAR_024823
VAR_024823 disease phenotype-associated
VAR_024823 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
VAR_024824 commonName VAR_024824
VAR_024824 disease phenotype-associated
VAR_024824 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
VAR_024826 commonName VAR_024826
VAR_024826 disease phenotype-associated
VAR_024826 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
VAR_024827 commonName VAR_024827
VAR_024827 disease not phenotype-associated
VAR_024828 commonName VAR_024828
VAR_024828 disease not phenotype-associated
VAR_024829 commonName VAR_024829
VAR_024829 disease not phenotype-associated
VAR_024830 commonName VAR_024830
VAR_024830 disease not phenotype-associated
VAR_024831 commonName VAR_024831
VAR_024832 commonName VAR_024832
VAR_024832 disease not phenotype-associated
VAR_024833 commonName VAR_024833
VAR_024834 commonName VAR_024834
VAR_024835 commonName VAR_024835
VAR_024835 disease not phenotype-associated
VAR_024836 commonName VAR_024836
VAR_024836 disease not phenotype-associated
VAR_024837 commonName VAR_024837
VAR_024837 disease not phenotype-associated
VAR_024838 commonName VAR_024838
VAR_024838 disease not phenotype-associated
VAR_024839 commonName VAR_024839
VAR_024839 disease not phenotype-associated
VAR_024840 commonName VAR_024840
VAR_024840 disease not phenotype-associated
VAR_024841 commonName VAR_024841
VAR_024841 disease not phenotype-associated
VAR_024842 commonName VAR_024842
VAR_024842 disease not phenotype-associated
VAR_024843 commonName VAR_024843
VAR_024843 disease not phenotype-associated
VAR_024844 commonName VAR_024844
VAR_024844 disease not phenotype-associated
VAR_024845 commonName VAR_024845
VAR_024845 disease not phenotype-associated
VAR_024846 commonName VAR_024846
VAR_024846 disease not phenotype-associated
VAR_024847 commonName VAR_024847
VAR_024847 disease not phenotype-associated
VAR_024848 commonName VAR_024848
VAR_024848 disease not phenotype-associated
VAR_024849 commonName VAR_024849
VAR_024849 disease not phenotype-associated
VAR_024850 commonName VAR_024850
VAR_024850 disease not phenotype-associated
VAR_024851 commonName VAR_024851
VAR_024851 disease phenotype-associated
VAR_024851 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
VAR_024852 commonName VAR_024852
VAR_024852 disease phenotype-associated
VAR_024852 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
VAR_024853 commonName VAR_024853
VAR_024853 disease phenotype-associated
VAR_024853 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024853 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024854 commonName VAR_024854
VAR_024854 disease not phenotype-associated
VAR_024855 commonName VAR_024855
VAR_024856 commonName VAR_024856
VAR_024857 commonName VAR_024857
VAR_024857 disease phenotype-associated
VAR_024857 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024858 commonName VAR_024858
VAR_024858 disease phenotype-associated
VAR_024858 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024859 commonName VAR_024859
VAR_024859 disease phenotype-associated
VAR_024859 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024859 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024860 commonName VAR_024860
VAR_024860 disease phenotype-associated
VAR_024860 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024860 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024861 commonName VAR_024861
VAR_024861 disease phenotype-associated
VAR_024861 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024862 commonName VAR_024862
VAR_024862 disease phenotype-associated
VAR_024862 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024863 commonName VAR_024863
VAR_024863 disease phenotype-associated
VAR_024863 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024865 commonName VAR_024865
VAR_024865 disease phenotype-associated
VAR_024865 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024866 commonName VAR_024866
VAR_024867 commonName VAR_024867
VAR_024867 disease not phenotype-associated
VAR_024868 commonName VAR_024868
VAR_024868 disease phenotype-associated
VAR_024868 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_024868 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024869 commonName VAR_024869
VAR_024869 disease not phenotype-associated
VAR_024870 commonName VAR_024870
VAR_024870 disease phenotype-associated
VAR_024870 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024871 commonName VAR_024871
VAR_024872 commonName VAR_024872
VAR_024872 disease phenotype-associated
VAR_024872 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_024873 commonName VAR_024873
VAR_024873 disease phenotype-associated
VAR_024873 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024875 commonName VAR_024875
VAR_024875 disease phenotype-associated
VAR_024875 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024876 commonName VAR_024876
VAR_024876 disease phenotype-associated
VAR_024876 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024877 commonName VAR_024877
VAR_024877 disease phenotype-associated
VAR_024877 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024878 commonName VAR_024878
VAR_024878 disease phenotype-associated
HbVar.679 commonName Hb A2-Babinga
VAR_024878 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024880 commonName VAR_024880
VAR_024880 disease phenotype-associated
VAR_024880 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024881 commonName VAR_024881
VAR_024881 disease phenotype-associated
VAR_024881 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024882 commonName VAR_024882
VAR_024882 disease phenotype-associated
VAR_024882 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024884 commonName VAR_024884
VAR_024884 disease phenotype-associated
VAR_024884 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024885 commonName VAR_024885
VAR_024885 disease phenotype-associated
VAR_024885 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024886 commonName VAR_024886
VAR_024886 disease phenotype-associated
VAR_024886 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024887 commonName VAR_024887
VAR_024887 disease phenotype-associated
VAR_024887 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024888 commonName VAR_024888
VAR_024888 disease phenotype-associated
VAR_024888 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024889 commonName VAR_024889
VAR_024889 disease phenotype-associated
VAR_024889 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024890 commonName VAR_024890
VAR_024890 disease phenotype-associated
VAR_024890 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024891 commonName VAR_024891
VAR_024891 disease phenotype-associated
VAR_024891 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024892 commonName VAR_024892
VAR_024892 disease phenotype-associated
VAR_024892 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024893 commonName VAR_024893
VAR_024893 disease phenotype-associated
VAR_024893 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024894 commonName VAR_024894
VAR_024894 disease phenotype-associated
VAR_024894 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024895 commonName VAR_024895
VAR_024895 disease phenotype-associated
VAR_024895 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024896 commonName VAR_024896
VAR_024896 disease phenotype-associated
VAR_024896 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024897 commonName VAR_024897
VAR_024897 disease phenotype-associated
VAR_024897 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024898 commonName VAR_024898
VAR_024898 disease phenotype-associated
VAR_024898 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024899 commonName VAR_024899
VAR_024899 disease phenotype-associated
VAR_024899 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024900 commonName VAR_024900
VAR_024900 disease phenotype-associated
VAR_024900 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024902 commonName VAR_024902
VAR_024902 disease phenotype-associated
VAR_024902 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024903 commonName VAR_024903
VAR_024903 disease phenotype-associated
VAR_024903 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024904 commonName VAR_024904
VAR_024904 disease phenotype-associated
VAR_024904 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024905 commonName VAR_024905
VAR_024905 disease phenotype-associated
VAR_024905 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024906 commonName VAR_024906
VAR_024906 disease phenotype-associated
VAR_024906 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024907 commonName VAR_024907
VAR_024907 disease phenotype-associated
VAR_024907 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024908 commonName VAR_024908
VAR_024908 disease phenotype-associated
VAR_024908 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024909 commonName VAR_024909
VAR_024909 disease phenotype-associated
VAR_024909 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024910 commonName VAR_024910
VAR_024910 disease phenotype-associated
VAR_024910 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024911 commonName VAR_024911
VAR_024911 disease phenotype-associated
VAR_024911 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024912 commonName VAR_024912
VAR_024912 disease phenotype-associated
VAR_024912 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024913 commonName VAR_024913
VAR_024913 disease phenotype-associated
VAR_024913 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024914 commonName VAR_024914
VAR_024914 disease phenotype-associated
VAR_024914 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024915 commonName VAR_024915
VAR_024915 disease phenotype-associated
VAR_024915 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024916 commonName VAR_024916
VAR_024916 disease phenotype-associated
VAR_024916 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024917 commonName VAR_024917
VAR_024917 disease phenotype-associated
VAR_024917 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024919 commonName VAR_024919
VAR_024919 disease phenotype-associated
VAR_024919 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024920 commonName VAR_024920
VAR_024920 disease phenotype-associated
VAR_024920 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024921 commonName VAR_024921
VAR_024921 disease phenotype-associated
VAR_024921 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
VAR_024922 commonName VAR_024922
VAR_024922 disease not phenotype-associated
VAR_024923 commonName VAR_024923
VAR_024923 disease not phenotype-associated
VAR_024924 commonName VAR_024924
VAR_024924 disease not phenotype-associated
VAR_024925 commonName VAR_024925
VAR_024925 disease not phenotype-associated
VAR_024926 commonName VAR_024926
VAR_024926 disease not phenotype-associated
VAR_024927 commonName VAR_024927
VAR_024927 disease not phenotype-associated
VAR_024928 commonName VAR_024928
VAR_024928 disease not phenotype-associated
VAR_024929 commonName VAR_024929
VAR_024929 disease not phenotype-associated
VAR_024930 commonName VAR_024930
VAR_024930 disease not phenotype-associated
VAR_024931 commonName VAR_024931
VAR_024931 disease not phenotype-associated
VAR_024932 commonName VAR_024932
VAR_024932 disease not phenotype-associated
VAR_024933 commonName VAR_024933
VAR_024933 disease not phenotype-associated
VAR_024934 commonName VAR_024934
VAR_024934 disease not phenotype-associated
VAR_024935 commonName VAR_024935
VAR_024936 commonName VAR_024936
VAR_024937 commonName VAR_024937
VAR_024937 disease not phenotype-associated
VAR_024938 commonName VAR_024938
VAR_024938 disease phenotype-associated
VAR_024938 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060]
VAR_024939 commonName VAR_024939
VAR_024940 commonName VAR_024940
VAR_024940 disease phenotype-associated
VAR_024940 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060]
VAR_024941 commonName VAR_024941
VAR_024941 disease phenotype-associated
VAR_024941 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060]
VAR_024942 commonName VAR_024942
VAR_024942 disease not phenotype-associated
VAR_024966 commonName VAR_024966
VAR_024966 disease not phenotype-associated
VAR_024967 commonName VAR_024967
VAR_024967 disease not phenotype-associated
VAR_024968 commonName VAR_024968
VAR_024968 disease not phenotype-associated
VAR_024969 commonName VAR_024969
VAR_024970 commonName VAR_024970
VAR_024970 disease not phenotype-associated
VAR_024971 commonName VAR_024971
VAR_024971 disease not phenotype-associated
VAR_024972 commonName VAR_024972
VAR_024972 disease not phenotype-associated
VAR_024973 commonName VAR_024973
VAR_024973 disease not phenotype-associated
VAR_024974 commonName VAR_024974
VAR_024975 commonName VAR_024975
VAR_024975 disease not phenotype-associated
VAR_024976 commonName VAR_024976
VAR_024976 disease not phenotype-associated
VAR_024977 commonName VAR_024977
VAR_024977 disease not phenotype-associated
VAR_024978 commonName VAR_024978
VAR_024978 disease not phenotype-associated
VAR_024979 commonName VAR_024979
VAR_024979 disease not phenotype-associated
VAR_024980 commonName VAR_024980
VAR_024980 disease not phenotype-associated
VAR_024981 commonName VAR_024981
VAR_024981 disease not phenotype-associated
VAR_024982 commonName VAR_024982
VAR_024982 disease not phenotype-associated
VAR_024983 commonName VAR_024983
VAR_024983 disease not phenotype-associated
VAR_024984 commonName VAR_024984
VAR_024984 disease not phenotype-associated
VAR_024985 commonName VAR_024985
VAR_024985 disease not phenotype-associated
VAR_024986 commonName VAR_024986
VAR_024987 commonName VAR_024987
VAR_024987 disease not phenotype-associated
VAR_024988 commonName VAR_024988
VAR_024988 disease not phenotype-associated
VAR_024989 commonName VAR_024989
VAR_024989 disease not phenotype-associated
VAR_024990 commonName VAR_024990
VAR_024990 disease not phenotype-associated
VAR_024991 commonName VAR_024991
VAR_024991 disease not phenotype-associated
VAR_024992 commonName VAR_024992
VAR_024993 commonName VAR_024993
VAR_024993 disease not phenotype-associated
VAR_024994 commonName VAR_024994
VAR_024994 disease not phenotype-associated
VAR_024995 commonName VAR_024995
VAR_024995 disease not phenotype-associated
VAR_024996 commonName VAR_024996
VAR_024996 disease phenotype-associated
VAR_024996 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_024997 commonName VAR_024997
VAR_024997 disease phenotype-associated
VAR_024997 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_024998 commonName VAR_024998
VAR_024998 disease phenotype-associated
VAR_024998 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_024999 commonName VAR_024999
VAR_024999 disease phenotype-associated
VAR_024999 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_025000 commonName VAR_025000
VAR_025000 disease phenotype-associated
VAR_025000 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_025001 commonName VAR_025001
VAR_025001 disease phenotype-associated
VAR_025001 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_025002 commonName VAR_025002
VAR_025003 commonName VAR_025003
VAR_025003 disease not phenotype-associated
VAR_025005 commonName VAR_025005
VAR_025005 disease not phenotype-associated
VAR_025006 commonName VAR_025006
VAR_025006 disease not phenotype-associated
VAR_025008 commonName VAR_025008
VAR_025008 disease phenotype-associated
VAR_025008 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_025009 commonName VAR_025009
VAR_025009 disease phenotype-associated
VAR_025009 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200]
VAR_025010 commonName VAR_025010
VAR_025010 disease not phenotype-associated
VAR_025011 commonName VAR_025011
VAR_025011 disease not phenotype-associated
VAR_025012 commonName VAR_025012
VAR_025012 disease not phenotype-associated
VAR_025013 commonName VAR_025013
VAR_025013 disease not phenotype-associated
VAR_025016 commonName VAR_025016
VAR_025016 disease not phenotype-associated
VAR_025017 commonName VAR_025017
VAR_025017 disease not phenotype-associated
VAR_025018 commonName VAR_025018
VAR_025018 disease not phenotype-associated
VAR_025019 commonName VAR_025019
VAR_025019 disease not phenotype-associated
VAR_025022 commonName VAR_025022
VAR_025022 disease not phenotype-associated
VAR_025023 commonName VAR_025023
VAR_025023 disease not phenotype-associated
VAR_025024 commonName VAR_025024
VAR_025024 disease not phenotype-associated
VAR_025025 commonName VAR_025025
VAR_025025 disease not phenotype-associated
VAR_025026 commonName VAR_025026
VAR_025026 disease not phenotype-associated
VAR_025027 commonName VAR_025027
VAR_025027 disease not phenotype-associated
VAR_025028 commonName VAR_025028
VAR_025028 disease not phenotype-associated
VAR_025029 commonName VAR_025029
VAR_025029 disease not phenotype-associated
VAR_025030 commonName VAR_025030
VAR_025030 disease not phenotype-associated
VAR_025031 commonName VAR_025031
VAR_025031 disease not phenotype-associated
VAR_025032 commonName VAR_025032
VAR_025032 disease not phenotype-associated
VAR_025033 commonName VAR_025033
VAR_025033 disease not phenotype-associated
VAR_025034 commonName VAR_025034
VAR_025034 disease not phenotype-associated
VAR_025035 commonName VAR_025035
VAR_025035 disease not phenotype-associated
VAR_025036 commonName VAR_025036
VAR_025036 disease not phenotype-associated
VAR_025037 commonName VAR_025037
VAR_025037 disease not phenotype-associated
VAR_025038 commonName VAR_025038
VAR_025038 disease not phenotype-associated
VAR_025039 commonName VAR_025039
VAR_025039 disease not phenotype-associated
VAR_025040 commonName VAR_025040
VAR_025040 disease not phenotype-associated
VAR_025041 commonName VAR_025041
VAR_025041 disease not phenotype-associated
VAR_025043 commonName VAR_025043
VAR_025043 disease not phenotype-associated
VAR_025044 commonName VAR_025044
VAR_025044 disease not phenotype-associated
VAR_025045 commonName VAR_025045
VAR_025045 disease not phenotype-associated
VAR_025046 commonName VAR_025046
VAR_025046 disease not phenotype-associated
VAR_025047 commonName VAR_025047
VAR_025047 disease not phenotype-associated
VAR_025049 commonName VAR_025049
VAR_025049 disease not phenotype-associated
VAR_025050 commonName VAR_025050
VAR_025050 disease not phenotype-associated
VAR_025051 commonName VAR_025051
VAR_025051 disease not phenotype-associated
VAR_025052 commonName VAR_025052
VAR_025052 disease not phenotype-associated
VAR_025053 commonName VAR_025053
VAR_025053 disease not phenotype-associated
VAR_025054 commonName VAR_025054
VAR_025054 disease not phenotype-associated
VAR_025055 commonName VAR_025055
VAR_025055 disease not phenotype-associated
VAR_025056 commonName VAR_025056
VAR_025056 disease not phenotype-associated
VAR_025057 commonName VAR_025057
VAR_025057 disease not phenotype-associated
VAR_025058 commonName VAR_025058
VAR_025058 disease not phenotype-associated
VAR_025060 commonName VAR_025060
VAR_025060 disease not phenotype-associated
VAR_025061 commonName VAR_025061
VAR_025061 disease not phenotype-associated
VAR_025062 commonName VAR_025062
VAR_025062 disease not phenotype-associated
VAR_025063 commonName VAR_025063
VAR_025063 disease not phenotype-associated
VAR_025064 commonName VAR_025064
VAR_025064 disease not phenotype-associated
VAR_025065 commonName VAR_025065
VAR_025065 disease not phenotype-associated
VAR_025066 commonName VAR_025066
VAR_025066 disease not phenotype-associated
VAR_025067 commonName VAR_025067
VAR_025067 disease not phenotype-associated
VAR_025068 commonName VAR_025068
VAR_025068 disease not phenotype-associated
VAR_025069 commonName VAR_025069
VAR_025069 disease not phenotype-associated
VAR_025070 commonName VAR_025070
VAR_025070 disease not phenotype-associated
VAR_025071 commonName VAR_025071
VAR_025071 disease not phenotype-associated
VAR_025075 commonName VAR_025075
VAR_025075 disease not phenotype-associated
VAR_025076 commonName VAR_025076
VAR_025076 disease not phenotype-associated
VAR_025077 commonName VAR_025077
VAR_025077 disease not phenotype-associated
VAR_025078 commonName VAR_025078
VAR_025078 disease not phenotype-associated
VAR_025079 commonName VAR_025079
VAR_025079 disease not phenotype-associated
VAR_025080 commonName VAR_025080
VAR_025080 disease not phenotype-associated
VAR_025081 commonName VAR_025081
VAR_025081 disease not phenotype-associated
VAR_025089 commonName VAR_025089
VAR_025089 disease not phenotype-associated
VAR_025090 commonName VAR_025090
VAR_025090 disease not phenotype-associated
VAR_025091 commonName VAR_025091
VAR_025091 disease not phenotype-associated
VAR_025092 commonName VAR_025092
VAR_025092 disease not phenotype-associated
VAR_025093 commonName VAR_025093
VAR_025093 disease not phenotype-associated
VAR_025094 commonName VAR_025094
VAR_025094 disease not phenotype-associated
VAR_025095 commonName VAR_025095
VAR_025095 disease not phenotype-associated
VAR_025096 commonName VAR_025096
VAR_025096 disease not phenotype-associated
VAR_025097 commonName VAR_025097
VAR_025097 disease not phenotype-associated
VAR_025098 commonName VAR_025098
VAR_025098 disease not phenotype-associated
VAR_025099 commonName VAR_025099
VAR_025099 disease not phenotype-associated
VAR_025100 commonName VAR_025100
VAR_025100 disease not phenotype-associated
VAR_025101 commonName VAR_025101
VAR_025101 disease not phenotype-associated
VAR_025102 commonName VAR_025102
VAR_025102 disease not phenotype-associated
VAR_025103 commonName VAR_025103
VAR_025103 disease not phenotype-associated
VAR_025104 commonName VAR_025104
VAR_025104 disease not phenotype-associated
VAR_025105 commonName VAR_025105
VAR_025105 disease not phenotype-associated
VAR_025106 commonName VAR_025106
VAR_025106 disease not phenotype-associated
VAR_025108 commonName VAR_025108
VAR_025108 disease not phenotype-associated
VAR_025109 commonName VAR_025109
VAR_025109 disease not phenotype-associated
VAR_025110 commonName VAR_025110
VAR_025110 disease not phenotype-associated
VAR_025111 commonName VAR_025111
VAR_025111 disease not phenotype-associated
VAR_025112 commonName VAR_025112
VAR_025112 disease not phenotype-associated
VAR_025113 commonName VAR_025113
VAR_025113 disease not phenotype-associated
VAR_025114 commonName VAR_025114
VAR_025114 disease not phenotype-associated
VAR_025115 commonName VAR_025115
VAR_025115 disease not phenotype-associated
VAR_025116 commonName VAR_025116
VAR_025116 disease not phenotype-associated
VAR_025117 commonName VAR_025117
VAR_025117 disease not phenotype-associated
VAR_025118 commonName VAR_025118
VAR_025118 disease not phenotype-associated
VAR_025119 commonName VAR_025119
VAR_025119 disease not phenotype-associated
VAR_025120 commonName VAR_025120
VAR_025120 disease not phenotype-associated
VAR_025121 commonName VAR_025121
VAR_025121 disease not phenotype-associated
VAR_025122 commonName VAR_025122
VAR_025122 disease not phenotype-associated
VAR_025123 commonName VAR_025123
VAR_025123 disease not phenotype-associated
VAR_025124 commonName VAR_025124
VAR_025124 disease not phenotype-associated
VAR_025125 commonName VAR_025125
VAR_025125 disease not phenotype-associated
VAR_025126 commonName VAR_025126
VAR_025126 disease not phenotype-associated
VAR_025127 commonName VAR_025127
VAR_025127 disease not phenotype-associated
VAR_025128 commonName VAR_025128
VAR_025128 disease not phenotype-associated
VAR_025129 commonName VAR_025129
VAR_025129 disease not phenotype-associated
VAR_025130 commonName VAR_025130
VAR_025130 disease not phenotype-associated
VAR_025131 commonName VAR_025131
VAR_025131 disease not phenotype-associated
VAR_025132 commonName VAR_025132
VAR_025132 disease not phenotype-associated
VAR_025133 commonName VAR_025133
VAR_025133 disease not phenotype-associated
VAR_025134 commonName VAR_025134
VAR_025134 disease not phenotype-associated
VAR_025135 commonName VAR_025135
VAR_025135 disease not phenotype-associated
VAR_025136 commonName VAR_025136
VAR_025136 disease not phenotype-associated
VAR_025137 commonName VAR_025137
VAR_025137 disease not phenotype-associated
VAR_025138 commonName VAR_025138
VAR_025138 disease not phenotype-associated
VAR_025139 commonName VAR_025139
VAR_025139 disease not phenotype-associated
VAR_025140 commonName VAR_025140
VAR_025140 disease not phenotype-associated
VAR_025141 commonName VAR_025141
VAR_025141 disease not phenotype-associated
VAR_025142 commonName VAR_025142
VAR_025142 disease not phenotype-associated
VAR_025143 commonName VAR_025143
VAR_025143 disease not phenotype-associated
VAR_025144 commonName VAR_025144
VAR_025144 disease not phenotype-associated
VAR_025145 commonName VAR_025145
VAR_025145 disease not phenotype-associated
VAR_025146 commonName VAR_025146
VAR_025146 disease not phenotype-associated
VAR_025147 commonName VAR_025147
VAR_025147 disease not phenotype-associated
VAR_025148 commonName VAR_025148
VAR_025148 disease not phenotype-associated
VAR_025149 commonName VAR_025149
VAR_025149 disease not phenotype-associated
VAR_025150 commonName VAR_025150
VAR_025150 disease not phenotype-associated
VAR_025151 commonName VAR_025151
VAR_025151 disease not phenotype-associated
VAR_025152 commonName VAR_025152
VAR_025152 disease not phenotype-associated
VAR_025153 commonName VAR_025153
VAR_025153 disease not phenotype-associated
VAR_025154 commonName VAR_025154
VAR_025154 disease not phenotype-associated
VAR_025155 commonName VAR_025155
VAR_025155 disease not phenotype-associated
VAR_025156 commonName VAR_025156
VAR_025156 disease not phenotype-associated
VAR_025157 commonName VAR_025157
VAR_025157 disease not phenotype-associated
VAR_025158 commonName VAR_025158
VAR_025158 disease not phenotype-associated
VAR_025159 commonName VAR_025159
VAR_025159 disease not phenotype-associated
VAR_025160 commonName VAR_025160
VAR_025160 disease not phenotype-associated
VAR_025161 commonName VAR_025161
VAR_025161 disease not phenotype-associated
VAR_025162 commonName VAR_025162
VAR_025162 disease not phenotype-associated
VAR_025163 commonName VAR_025163
VAR_025163 disease not phenotype-associated
VAR_025164 commonName VAR_025164
VAR_025164 disease not phenotype-associated
VAR_025165 commonName VAR_025165
VAR_025165 disease not phenotype-associated
VAR_025166 commonName VAR_025166
VAR_025166 disease not phenotype-associated
VAR_025167 commonName VAR_025167
VAR_025167 disease not phenotype-associated
VAR_025168 commonName VAR_025168
VAR_025168 disease not phenotype-associated
VAR_025169 commonName VAR_025169
VAR_025169 disease not phenotype-associated
VAR_025170 commonName VAR_025170
VAR_025170 disease not phenotype-associated
VAR_025171 commonName VAR_025171
VAR_025171 disease not phenotype-associated
VAR_025172 commonName VAR_025172
VAR_025172 disease not phenotype-associated
VAR_025173 commonName VAR_025173
VAR_025173 disease not phenotype-associated
VAR_025174 commonName VAR_025174
VAR_025174 disease not phenotype-associated
VAR_025175 commonName VAR_025175
VAR_025175 disease not phenotype-associated
VAR_025176 commonName VAR_025176
VAR_025176 disease not phenotype-associated
VAR_025177 commonName VAR_025177
VAR_025177 disease not phenotype-associated
VAR_025178 commonName VAR_025178
VAR_025178 disease not phenotype-associated
VAR_025179 commonName VAR_025179
VAR_025179 disease not phenotype-associated
VAR_025180 commonName VAR_025180
VAR_025180 disease not phenotype-associated
VAR_025181 commonName VAR_025181
VAR_025181 disease not phenotype-associated
VAR_025190 commonName VAR_025190
VAR_025190 disease not phenotype-associated
VAR_025191 commonName VAR_025191
VAR_025191 disease not phenotype-associated
VAR_025192 commonName VAR_025192
VAR_025192 disease not phenotype-associated
VAR_025193 commonName VAR_025193
VAR_025193 disease not phenotype-associated
VAR_025194 commonName VAR_025194
VAR_025194 disease not phenotype-associated
VAR_025200 commonName VAR_025200
VAR_025200 disease not phenotype-associated
VAR_025201 commonName VAR_025201
VAR_025201 disease not phenotype-associated
VAR_025202 commonName VAR_025202
VAR_025202 disease not phenotype-associated
VAR_025206 commonName VAR_025206
VAR_025206 disease not phenotype-associated
VAR_025207 commonName VAR_025207
VAR_025207 disease not phenotype-associated
VAR_025208 commonName VAR_025208
VAR_025208 disease not phenotype-associated
VAR_025209 commonName VAR_025209
VAR_025209 disease not phenotype-associated
VAR_025210 commonName VAR_025210
VAR_025210 disease not phenotype-associated
VAR_025211 commonName VAR_025211
VAR_025211 disease not phenotype-associated
VAR_025212 commonName VAR_025212
VAR_025212 disease not phenotype-associated
VAR_025213 commonName VAR_025213
VAR_025213 disease not phenotype-associated
VAR_025214 commonName VAR_025214
VAR_025214 disease not phenotype-associated
VAR_025216 commonName VAR_025216
VAR_025216 disease not phenotype-associated
VAR_025217 commonName VAR_025217
VAR_025217 disease not phenotype-associated
VAR_025218 commonName VAR_025218
VAR_025218 disease not phenotype-associated
VAR_025219 commonName VAR_025219
VAR_025219 disease not phenotype-associated
VAR_025220 commonName VAR_025220
VAR_025220 disease not phenotype-associated
VAR_025221 commonName VAR_025221
VAR_025221 disease not phenotype-associated
VAR_025222 commonName VAR_025222
VAR_025222 disease not phenotype-associated
VAR_025223 commonName VAR_025223
VAR_025223 disease not phenotype-associated
VAR_025228 commonName VAR_025228
VAR_025228 disease not phenotype-associated
VAR_025229 commonName VAR_025229
VAR_025229 disease not phenotype-associated
VAR_025230 commonName VAR_025230
VAR_025230 disease not phenotype-associated
VAR_025231 commonName VAR_025231
VAR_025231 disease not phenotype-associated
VAR_025232 commonName VAR_025232
VAR_025232 disease not phenotype-associated
VAR_025233 commonName VAR_025233
VAR_025233 disease not phenotype-associated
VAR_025234 commonName VAR_025234
VAR_025234 disease not phenotype-associated
VAR_025235 commonName VAR_025235
VAR_025235 disease not phenotype-associated
VAR_025236 commonName VAR_025236
VAR_025236 disease not phenotype-associated
VAR_025237 commonName VAR_025237
VAR_025237 disease not phenotype-associated
VAR_025238 commonName VAR_025238
VAR_025238 disease not phenotype-associated
VAR_025239 commonName VAR_025239
VAR_025239 disease not phenotype-associated
VAR_025240 commonName VAR_025240
VAR_025240 disease not phenotype-associated
VAR_025241 commonName VAR_025241
VAR_025241 disease not phenotype-associated
VAR_025242 commonName VAR_025242
VAR_025242 disease not phenotype-associated
VAR_025243 commonName VAR_025243
VAR_025243 disease not phenotype-associated
VAR_025244 commonName VAR_025244
VAR_025244 disease not phenotype-associated
VAR_025245 commonName VAR_025245
VAR_025245 disease not phenotype-associated
VAR_025246 commonName VAR_025246
VAR_025246 disease not phenotype-associated
VAR_025247 commonName VAR_025247
VAR_025247 disease not phenotype-associated
VAR_025248 commonName VAR_025248
VAR_025248 disease not phenotype-associated
VAR_025249 commonName VAR_025249
VAR_025249 disease not phenotype-associated
VAR_025250 commonName VAR_025250
VAR_025250 disease not phenotype-associated
VAR_025251 commonName VAR_025251
VAR_025251 disease not phenotype-associated
VAR_025252 commonName VAR_025252
VAR_025252 disease not phenotype-associated
VAR_025253 commonName VAR_025253
VAR_025253 disease not phenotype-associated
VAR_025254 commonName VAR_025254
VAR_025254 disease not phenotype-associated
VAR_025255 commonName VAR_025255
VAR_025255 disease not phenotype-associated
VAR_025256 commonName VAR_025256
VAR_025256 disease not phenotype-associated
VAR_025257 commonName VAR_025257
VAR_025257 disease not phenotype-associated
VAR_025258 commonName VAR_025258
VAR_025258 disease not phenotype-associated
VAR_025259 commonName VAR_025259
VAR_025259 disease not phenotype-associated
VAR_025260 commonName VAR_025260
VAR_025260 disease not phenotype-associated
VAR_025261 commonName VAR_025261
VAR_025261 disease not phenotype-associated
VAR_025262 commonName VAR_025262
VAR_025262 disease not phenotype-associated
VAR_025263 commonName VAR_025263
VAR_025263 disease not phenotype-associated
VAR_025264 commonName VAR_025264
VAR_025264 disease not phenotype-associated
VAR_025269 commonName VAR_025269
VAR_025269 disease not phenotype-associated
VAR_025270 commonName VAR_025270
VAR_025270 disease not phenotype-associated
VAR_025271 commonName VAR_025271
VAR_025271 disease not phenotype-associated
VAR_025272 commonName VAR_025272
VAR_025272 disease not phenotype-associated
VAR_025273 commonName VAR_025273
VAR_025273 disease not phenotype-associated
VAR_025274 commonName VAR_025274
VAR_025274 disease not phenotype-associated
VAR_025275 commonName VAR_025275
VAR_025275 disease not phenotype-associated
VAR_025277 commonName VAR_025277
VAR_025277 disease not phenotype-associated
VAR_025278 commonName VAR_025278
VAR_025278 disease not phenotype-associated
VAR_025279 commonName VAR_025279
VAR_025279 disease not phenotype-associated
VAR_025280 commonName VAR_025280
VAR_025280 disease phenotype-associated
VAR_025280 phenoCommon Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741]
VAR_025281 commonName VAR_025281
VAR_025281 disease phenotype-associated
VAR_025281 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]
VAR_025282 commonName VAR_025282
VAR_025282 disease phenotype-associated
VAR_025282 phenoCommon Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]
VAR_025283 commonName VAR_025283
VAR_025283 disease not phenotype-associated
VAR_025284 commonName VAR_025284
VAR_025284 disease not phenotype-associated
VAR_025285 commonName VAR_025285
VAR_025285 disease not phenotype-associated
VAR_025286 commonName VAR_025286
VAR_025286 disease not phenotype-associated
VAR_025287 commonName VAR_025287
VAR_025287 disease not phenotype-associated
VAR_025288 commonName VAR_025288
VAR_025288 disease phenotype-associated
VAR_025288 phenoCommon Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
VAR_025289 commonName VAR_025289
VAR_025289 disease not phenotype-associated
VAR_025290 commonName VAR_025290
VAR_025290 disease not phenotype-associated
VAR_025291 commonName VAR_025291
VAR_025291 disease not phenotype-associated
VAR_025292 commonName VAR_025292
VAR_025292 disease not phenotype-associated
VAR_025293 commonName VAR_025293
VAR_025293 disease not phenotype-associated
VAR_025294 commonName VAR_025294
VAR_025294 disease not phenotype-associated
VAR_025295 commonName VAR_025295
VAR_025295 disease not phenotype-associated
VAR_025296 commonName VAR_025296
VAR_025296 disease not phenotype-associated
VAR_025297 commonName VAR_025297
VAR_025297 disease not phenotype-associated
VAR_025298 commonName VAR_025298
VAR_025298 disease not phenotype-associated
VAR_025299 commonName VAR_025299
VAR_025299 disease not phenotype-associated
VAR_025300 commonName VAR_025300
VAR_025300 disease not phenotype-associated
VAR_025301 commonName VAR_025301
VAR_025301 disease not phenotype-associated
VAR_025303 commonName VAR_025303
VAR_025303 disease not phenotype-associated
VAR_025304 commonName VAR_025304
VAR_025304 disease not phenotype-associated
VAR_025305 commonName VAR_025305
VAR_025305 disease not phenotype-associated
VAR_025307 commonName VAR_025307
VAR_025307 disease not phenotype-associated
VAR_025308 commonName VAR_025308
VAR_025308 disease not phenotype-associated
VAR_025309 commonName VAR_025309
VAR_025309 disease phenotype-associated
VAR_025309 phenoCommon Corneal fleck dystrophy (CFD) [MIM:121850]
VAR_025310 commonName VAR_025310
VAR_025310 disease not phenotype-associated
VAR_025311 commonName VAR_025311
VAR_025311 disease not phenotype-associated
VAR_025312 commonName VAR_025312
VAR_025312 disease not phenotype-associated
VAR_025313 commonName VAR_025313
VAR_025313 disease not phenotype-associated
VAR_025315 commonName VAR_025315
VAR_025315 disease not phenotype-associated
VAR_025316 commonName VAR_025316
VAR_025316 disease not phenotype-associated
VAR_025317 commonName VAR_025317
VAR_025317 disease not phenotype-associated
VAR_025318 commonName VAR_025318
VAR_025318 disease not phenotype-associated
VAR_025319 commonName VAR_025319
VAR_025319 disease not phenotype-associated
VAR_025320 commonName VAR_025320
VAR_025323 commonName VAR_025323
VAR_025323 disease phenotype-associated
VAR_025323 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
VAR_025324 commonName VAR_025324
VAR_025324 disease not phenotype-associated
VAR_025325 commonName VAR_025325
VAR_025325 disease phenotype-associated
VAR_025325 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
VAR_025326 commonName VAR_025326
VAR_025326 disease not phenotype-associated
VAR_025327 commonName VAR_025327
VAR_025327 disease not phenotype-associated
VAR_025328 commonName VAR_025328
VAR_025328 disease not phenotype-associated
VAR_025329 commonName VAR_025329
VAR_025329 disease not phenotype-associated
VAR_025330 commonName VAR_025330
VAR_025330 disease not phenotype-associated
VAR_025331 commonName VAR_025331
VAR_025331 disease not phenotype-associated
VAR_025333 commonName VAR_025333
VAR_025333 disease not phenotype-associated
VAR_025334 commonName VAR_025334
VAR_025334 disease not phenotype-associated
VAR_025335 commonName VAR_025335
VAR_025336 commonName VAR_025336
VAR_025336 disease phenotype-associated
VAR_025336 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977]
VAR_025337 commonName VAR_025337
VAR_025337 disease not phenotype-associated
VAR_025338 commonName VAR_025338
VAR_025338 disease not phenotype-associated
VAR_025339 commonName VAR_025339
VAR_025339 disease not phenotype-associated
VAR_025340 commonName VAR_025340
VAR_025340 disease not phenotype-associated
VAR_025341 commonName VAR_025341
VAR_025341 disease not phenotype-associated
VAR_025342 commonName VAR_025342
VAR_025342 disease not phenotype-associated
VAR_025343 commonName VAR_025343
VAR_025343 disease not phenotype-associated
VAR_025344 commonName VAR_025344
VAR_025344 disease not phenotype-associated
VAR_025345 commonName VAR_025345
VAR_025345 disease not phenotype-associated
VAR_025346 commonName VAR_025346
VAR_025346 disease phenotype-associated
VAR_025346 phenoCommon MASP2 deficiency (MASPD) [MIM:613791]
VAR_025347 commonName VAR_025347
VAR_025347 disease phenotype-associated
VAR_025347 phenoCommon MASP2 deficiency (MASPD) [MIM:613791]
VAR_025349 commonName VAR_025349
VAR_025349 disease not phenotype-associated
VAR_025352 commonName VAR_025352
VAR_025352 disease not phenotype-associated
VAR_025354 commonName VAR_025354
VAR_025355 commonName VAR_025355
VAR_025355 disease not phenotype-associated
VAR_025356 comment A sporadic colorectal carcinoma
VAR_025356 commonName VAR_025356
VAR_025357 comment A renal cell carcinoma cell line
VAR_025357 commonName VAR_025357
VAR_025358 comment A primary colorectal cancer
VAR_025358 commonName VAR_025358
VAR_025359 comment A primary colorectal cancer
VAR_025359 commonName VAR_025359
VAR_025360 comment A primary clear-cell renal cell carcinoma
VAR_025360 commonName VAR_025360
VAR_025361 comment A sporadic colorectal carcinoma
VAR_025361 commonName VAR_025361
VAR_025362 commonName VAR_025362
VAR_025362 disease not phenotype-associated
VAR_025363 commonName VAR_025363
VAR_025363 disease not phenotype-associated
VAR_025364 commonName VAR_025364
VAR_025364 disease not phenotype-associated
VAR_025365 commonName VAR_025365
VAR_025365 disease phenotype-associated
VAR_025365 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
VAR_025366 commonName VAR_025366
VAR_025366 disease phenotype-associated
VAR_025366 phenoCommon Familial febrile convulsions type 3A (FEB3A) [MIM:604403]
VAR_025367 commonName VAR_025367
VAR_025367 disease not phenotype-associated
VAR_025368 commonName VAR_025368
VAR_025368 disease phenotype-associated
VAR_025368 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025369 commonName VAR_025369
VAR_025369 disease not phenotype-associated
VAR_025370 commonName VAR_025370
VAR_025370 disease phenotype-associated
VAR_025370 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025371 commonName VAR_025371
VAR_025371 disease phenotype-associated
VAR_025371 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025372 commonName VAR_025372
VAR_025372 disease phenotype-associated
VAR_025372 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025373 commonName VAR_025373
VAR_025373 disease phenotype-associated
VAR_025373 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025374 commonName VAR_025374
VAR_025374 disease phenotype-associated
VAR_025374 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025375 commonName VAR_025375
VAR_025375 disease phenotype-associated
VAR_025375 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025376 commonName VAR_025376
VAR_025376 disease phenotype-associated
VAR_025376 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025377 commonName VAR_025377
VAR_025377 disease phenotype-associated
VAR_025377 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025378 commonName VAR_025378
VAR_025378 disease not phenotype-associated
VAR_025379 commonName VAR_025379
VAR_025379 disease phenotype-associated
VAR_025379 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]
VAR_025380 commonName VAR_025380
VAR_025380 disease phenotype-associated
VAR_025380 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_025381 commonName VAR_025381
VAR_025381 disease phenotype-associated
VAR_025381 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_025383 commonName VAR_025383
VAR_025383 disease phenotype-associated
VAR_025383 phenoCommon Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821]
VAR_025384 commonName VAR_025384
VAR_025384 disease phenotype-associated
VAR_025384 phenoCommon Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821]
VAR_025385 commonName VAR_025385
VAR_025385 disease not phenotype-associated
VAR_025386 commonName VAR_025386
VAR_025386 disease not phenotype-associated
VAR_025387 commonName VAR_025387
VAR_025388 commonName VAR_025388
VAR_025389 commonName VAR_025389
VAR_025390 commonName VAR_025390
VAR_025391 commonName VAR_025391
VAR_025392 commonName VAR_025392
VAR_025393 commonName VAR_025393
VAR_025394 commonName VAR_025394
VAR_025395 commonName VAR_025395
VAR_025396 commonName VAR_025396
VAR_025397 commonName VAR_025397
VAR_025398 commonName VAR_025398
VAR_025399 commonName VAR_025399
VAR_025403 commonName VAR_025403
VAR_025403 disease not phenotype-associated
VAR_025404 commonName VAR_025404
VAR_025404 disease not phenotype-associated
VAR_025405 commonName VAR_025405
VAR_025405 disease not phenotype-associated
VAR_025410 commonName VAR_025410
VAR_025410 disease not phenotype-associated
VAR_025411 commonName VAR_025411
VAR_025411 disease not phenotype-associated
VAR_025412 commonName VAR_025412
VAR_025412 disease not phenotype-associated
VAR_025413 commonName VAR_025413
VAR_025413 disease not phenotype-associated
VAR_025414 commonName VAR_025414
VAR_025414 disease not phenotype-associated
VAR_025415 commonName VAR_025415
VAR_025415 disease not phenotype-associated
VAR_025416 commonName VAR_025416
VAR_025416 disease phenotype-associated
VAR_025416 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_025417 commonName VAR_025417
VAR_025417 disease not phenotype-associated
VAR_025418 commonName VAR_025418
VAR_025418 disease not phenotype-associated
VAR_025419 commonName VAR_025419
VAR_025419 disease not phenotype-associated
VAR_025420 commonName VAR_025420
VAR_025420 disease not phenotype-associated
VAR_025423 commonName VAR_025423
VAR_025423 disease not phenotype-associated
VAR_025424 commonName VAR_025424
VAR_025424 disease not phenotype-associated
VAR_025425 commonName VAR_025425
VAR_025425 disease not phenotype-associated
VAR_025427 commonName VAR_025427
VAR_025427 disease not phenotype-associated
VAR_025428 commonName VAR_025428
VAR_025428 disease not phenotype-associated
VAR_025429 commonName VAR_025429
VAR_025429 disease not phenotype-associated
VAR_025430 commonName VAR_025430
VAR_025430 disease not phenotype-associated
VAR_025431 commonName VAR_025431
VAR_025431 disease not phenotype-associated
VAR_025432 commonName VAR_025432
VAR_025432 disease not phenotype-associated
VAR_025433 commonName VAR_025433
VAR_025433 disease not phenotype-associated
VAR_025434 commonName VAR_025434
VAR_025434 disease not phenotype-associated
VAR_025435 commonName VAR_025435
VAR_025435 disease not phenotype-associated
VAR_025436 commonName VAR_025436
VAR_025436 disease not phenotype-associated
VAR_025437 commonName VAR_025437
VAR_025437 disease not phenotype-associated
VAR_025438 commonName VAR_025438
VAR_025438 disease not phenotype-associated
VAR_025439 commonName VAR_025439
VAR_025439 disease not phenotype-associated
VAR_025440 commonName VAR_025440
VAR_025440 disease not phenotype-associated
VAR_025441 commonName VAR_025441
VAR_025441 disease not phenotype-associated
VAR_025443 commonName VAR_025443
VAR_025443 disease not phenotype-associated
VAR_025444 commonName VAR_025444
VAR_025444 disease not phenotype-associated
VAR_025445 commonName VAR_025445
VAR_025445 disease not phenotype-associated
VAR_025446 commonName VAR_025446
VAR_025446 disease not phenotype-associated
VAR_025447 commonName VAR_025447
VAR_025447 disease not phenotype-associated
VAR_025448 commonName VAR_025448
VAR_025448 disease not phenotype-associated
VAR_025449 commonName VAR_025449
VAR_025449 disease not phenotype-associated
VAR_025450 commonName VAR_025450
VAR_025450 disease not phenotype-associated
VAR_025451 commonName VAR_025451
VAR_025451 disease not phenotype-associated
VAR_025452 commonName VAR_025452
VAR_025452 disease not phenotype-associated
VAR_025453 commonName VAR_025453
VAR_025453 disease not phenotype-associated
VAR_025454 commonName VAR_025454
VAR_025454 disease not phenotype-associated
VAR_025455 commonName VAR_025455
VAR_025455 disease not phenotype-associated
VAR_025456 commonName VAR_025456
VAR_025456 disease not phenotype-associated
VAR_025457 commonName VAR_025457
VAR_025457 disease not phenotype-associated
VAR_025458 commonName VAR_025458
VAR_025458 disease not phenotype-associated
VAR_025459 commonName VAR_025459
VAR_025459 disease not phenotype-associated
VAR_025460 commonName VAR_025460
VAR_025460 disease phenotype-associated
VAR_025460 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810]
VAR_025461 commonName VAR_025461
VAR_025461 disease phenotype-associated
VAR_025461 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810]
VAR_025462 commonName VAR_025462
VAR_025462 disease not phenotype-associated
VAR_025463 commonName VAR_025463
VAR_025463 disease not phenotype-associated
VAR_025464 commonName VAR_025464
VAR_025464 disease not phenotype-associated
VAR_025465 commonName VAR_025465
VAR_025465 disease not phenotype-associated
VAR_025466 commonName VAR_025466
VAR_025466 disease phenotype-associated
VAR_025466 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810]
VAR_025467 commonName VAR_025467
VAR_025467 disease phenotype-associated
VAR_025467 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810]
VAR_025468 commonName VAR_025468
VAR_025468 disease not phenotype-associated
VAR_025469 commonName VAR_025469
VAR_025469 disease not phenotype-associated
VAR_025470 commonName VAR_025470
VAR_025470 disease not phenotype-associated
VAR_025471 commonName VAR_025471
VAR_025471 disease not phenotype-associated
VAR_025472 commonName VAR_025472
VAR_025472 disease not phenotype-associated
VAR_025473 commonName VAR_025473
VAR_025473 disease not phenotype-associated
VAR_025474 commonName VAR_025474
VAR_025474 disease phenotype-associated
VAR_025474 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_025475 commonName VAR_025475
VAR_025475 disease not phenotype-associated
VAR_025476 commonName VAR_025476
VAR_025476 disease not phenotype-associated
VAR_025477 commonName VAR_025477
VAR_025477 disease not phenotype-associated
VAR_025478 commonName VAR_025478
VAR_025478 disease not phenotype-associated
VAR_025479 commonName VAR_025479
VAR_025479 disease not phenotype-associated
VAR_025480 commonName VAR_025480
VAR_025481 commonName VAR_025481
VAR_025481 disease not phenotype-associated
VAR_025482 commonName VAR_025482
VAR_025482 disease not phenotype-associated
VAR_025483 commonName VAR_025483
VAR_025483 disease not phenotype-associated
VAR_025484 commonName VAR_025484
VAR_025487 commonName VAR_025487
VAR_025487 disease not phenotype-associated
VAR_025488 commonName VAR_025488
VAR_025488 disease not phenotype-associated
VAR_025489 commonName VAR_025489
VAR_025489 disease phenotype-associated
VAR_025489 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025490 commonName VAR_025490
VAR_025490 disease phenotype-associated
VAR_025490 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025491 commonName VAR_025491
VAR_025491 disease phenotype-associated
VAR_025491 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025492 commonName VAR_025492
VAR_025492 disease phenotype-associated
VAR_025492 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025493 commonName VAR_025493
VAR_025493 disease phenotype-associated
VAR_025493 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025494 commonName VAR_025494
VAR_025494 disease phenotype-associated
VAR_025494 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_025495 commonName VAR_025495
VAR_025495 disease phenotype-associated
VAR_025495 phenoCommon Opitz syndrome type I (OS-I) [MIM:300000]
VAR_025497 commonName VAR_025497
VAR_025497 disease not phenotype-associated
VAR_025498 commonName VAR_025498
VAR_025498 disease not phenotype-associated
VAR_025499 commonName VAR_025499
VAR_025499 disease not phenotype-associated
VAR_025500 commonName VAR_025500
VAR_025500 disease not phenotype-associated
VAR_025501 commonName VAR_025501
VAR_025501 disease not phenotype-associated
VAR_025502 commonName VAR_025502
VAR_025502 disease not phenotype-associated
VAR_025503 commonName VAR_025503
VAR_025503 disease not phenotype-associated
VAR_025504 commonName VAR_025504
VAR_025504 disease not phenotype-associated
VAR_025505 commonName VAR_025505
VAR_025505 disease not phenotype-associated
VAR_025506 commonName VAR_025506
VAR_025506 disease not phenotype-associated
VAR_025507 commonName VAR_025507
VAR_025507 disease not phenotype-associated
VAR_025508 commonName VAR_025508
VAR_025508 disease not phenotype-associated
VAR_025509 commonName VAR_025509
VAR_025509 disease not phenotype-associated
VAR_025510 commonName VAR_025510
VAR_025510 disease not phenotype-associated
VAR_025511 commonName VAR_025511
VAR_025511 disease not phenotype-associated
VAR_025512 commonName VAR_025512
VAR_025512 disease not phenotype-associated
VAR_025513 commonName VAR_025513
VAR_025513 disease not phenotype-associated
VAR_025514 commonName VAR_025514
VAR_025514 disease not phenotype-associated
VAR_025515 commonName VAR_025515
VAR_025515 disease not phenotype-associated
VAR_025516 commonName VAR_025516
VAR_025516 disease not phenotype-associated
VAR_025517 commonName VAR_025517
VAR_025517 disease not phenotype-associated
VAR_025518 commonName VAR_025518
VAR_025518 disease not phenotype-associated
VAR_025520 commonName VAR_025520
VAR_025520 disease not phenotype-associated
VAR_025521 commonName VAR_025521
VAR_025521 disease not phenotype-associated
VAR_025522 commonName VAR_025522
VAR_025522 disease not phenotype-associated
VAR_025523 commonName VAR_025523
VAR_025523 disease not phenotype-associated
VAR_025524 commonName VAR_025524
VAR_025524 disease phenotype-associated
VAR_025524 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_025525 commonName VAR_025525
VAR_025525 disease not phenotype-associated
VAR_025526 commonName VAR_025526
VAR_025526 disease not phenotype-associated
VAR_025527 commonName VAR_025527
VAR_025527 disease not phenotype-associated
VAR_025528 comment Ovarian cancer
VAR_025528 commonName VAR_025528
VAR_025529 commonName VAR_025529
VAR_025529 disease not phenotype-associated
VAR_025530 commonName VAR_025530
VAR_025530 disease not phenotype-associated
VAR_025531 commonName VAR_025531
VAR_025531 disease not phenotype-associated
VAR_025532 commonName VAR_025532
VAR_025532 disease not phenotype-associated
VAR_025533 commonName VAR_025533
VAR_025533 disease not phenotype-associated
VAR_025535 commonName VAR_025535
VAR_025535 disease not phenotype-associated
VAR_025536 commonName VAR_025536
VAR_025536 disease not phenotype-associated
VAR_025537 commonName VAR_025537
VAR_025537 disease not phenotype-associated
VAR_025538 commonName VAR_025538
VAR_025538 disease not phenotype-associated
VAR_025539 commonName VAR_025539
VAR_025539 disease not phenotype-associated
VAR_025540 commonName VAR_025540
VAR_025540 disease not phenotype-associated
VAR_025541 commonName VAR_025541
VAR_025541 disease not phenotype-associated
VAR_025542 commonName VAR_025542
VAR_025542 disease not phenotype-associated
VAR_025545 commonName VAR_025545
VAR_025545 disease not phenotype-associated
VAR_025546 commonName VAR_025546
VAR_025546 disease not phenotype-associated
VAR_025547 commonName VAR_025547
VAR_025547 disease not phenotype-associated
VAR_025548 commonName VAR_025548
VAR_025548 disease not phenotype-associated
VAR_025549 commonName VAR_025549
VAR_025549 disease not phenotype-associated
VAR_025550 commonName VAR_025550
VAR_025550 disease not phenotype-associated
VAR_025551 commonName VAR_025551
VAR_025551 disease not phenotype-associated
VAR_025552 commonName VAR_025552
VAR_025552 disease not phenotype-associated
VAR_025553 commonName VAR_025553
VAR_025553 disease not phenotype-associated
VAR_025554 commonName VAR_025554
VAR_025554 disease not phenotype-associated
VAR_025555 commonName VAR_025555
VAR_025555 disease not phenotype-associated
VAR_025556 commonName VAR_025556
VAR_025556 disease not phenotype-associated
VAR_025557 commonName VAR_025557
VAR_025557 disease not phenotype-associated
VAR_025558 commonName VAR_025558
VAR_025558 disease phenotype-associated
VAR_025558 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025559 commonName VAR_025559
VAR_025559 disease phenotype-associated
VAR_025559 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025560 commonName VAR_025560
VAR_025560 disease phenotype-associated
VAR_025560 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025561 commonName VAR_025561
VAR_025561 disease phenotype-associated
VAR_025561 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025562 commonName VAR_025562
VAR_025562 disease phenotype-associated
VAR_025562 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025563 commonName VAR_025563
VAR_025563 disease phenotype-associated
VAR_025563 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025564 commonName VAR_025564
VAR_025564 disease phenotype-associated
VAR_025564 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025565 commonName VAR_025565
VAR_025565 disease phenotype-associated
VAR_025565 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025567 commonName VAR_025567
VAR_025567 disease phenotype-associated
VAR_025567 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025568 commonName VAR_025568
VAR_025568 disease phenotype-associated
VAR_025568 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025569 commonName VAR_025569
VAR_025569 disease phenotype-associated
VAR_025569 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025570 commonName VAR_025570
VAR_025570 disease phenotype-associated
VAR_025570 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025571 commonName VAR_025571
VAR_025571 disease phenotype-associated
VAR_025571 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025572 commonName VAR_025572
VAR_025572 disease phenotype-associated
VAR_025572 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025573 commonName VAR_025573
VAR_025573 disease phenotype-associated
VAR_025573 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025574 commonName VAR_025574
VAR_025574 disease phenotype-associated
VAR_025574 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025575 commonName VAR_025575
VAR_025575 disease phenotype-associated
VAR_025575 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025576 commonName VAR_025576
VAR_025576 disease phenotype-associated
VAR_025576 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025577 commonName VAR_025577
VAR_025577 disease phenotype-associated
VAR_025577 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025578 commonName VAR_025578
VAR_025578 disease phenotype-associated
VAR_025578 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025579 commonName VAR_025579
VAR_025579 disease phenotype-associated
VAR_025579 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000]
VAR_025581 commonName VAR_025581
VAR_025581 disease phenotype-associated
VAR_025581 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025582 commonName VAR_025582
VAR_025582 disease phenotype-associated
VAR_025582 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025583 commonName VAR_025583
VAR_025583 disease phenotype-associated
VAR_025583 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025584 commonName VAR_025584
VAR_025584 disease phenotype-associated
VAR_025584 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025585 commonName VAR_025585
VAR_025585 disease phenotype-associated
VAR_025585 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025586 commonName VAR_025586
VAR_025586 disease phenotype-associated
VAR_025586 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025587 commonName VAR_025587
VAR_025587 disease phenotype-associated
VAR_025587 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025588 commonName VAR_025588
VAR_025588 disease phenotype-associated
VAR_025588 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025589 commonName VAR_025589
VAR_025589 disease phenotype-associated
VAR_025589 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025590 commonName VAR_025590
VAR_025590 disease phenotype-associated
VAR_025590 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025591 commonName VAR_025591
VAR_025591 disease phenotype-associated
VAR_025591 phenoCommon Glycogen storage disease type 1C (GSD1C) [MIM:232240]
VAR_025592 commonName VAR_025592
VAR_025592 disease phenotype-associated
VAR_025592 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025593 commonName VAR_025593
VAR_025593 disease phenotype-associated
VAR_025593 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025594 commonName VAR_025594
VAR_025594 disease phenotype-associated
VAR_025594 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025595 commonName VAR_025595
VAR_025595 disease phenotype-associated
VAR_025595 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025596 commonName VAR_025596
VAR_025596 disease not phenotype-associated
VAR_025597 commonName VAR_025597
VAR_025597 disease phenotype-associated
VAR_025597 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025598 commonName VAR_025598
VAR_025598 disease phenotype-associated
VAR_025598 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025599 commonName VAR_025599
VAR_025599 disease phenotype-associated
VAR_025599 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025600 commonName VAR_025600
VAR_025600 disease phenotype-associated
VAR_025600 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025601 commonName VAR_025601
VAR_025601 disease phenotype-associated
VAR_025601 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025602 commonName VAR_025602
VAR_025602 disease phenotype-associated
VAR_025602 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025603 commonName VAR_025603
VAR_025603 disease phenotype-associated
VAR_025603 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_025604 commonName VAR_025604
VAR_025604 disease phenotype-associated
VAR_025604 phenoCommon Glycogen storage disease type 1C (GSD1C) [MIM:232240]
VAR_025605 commonName VAR_025605
VAR_025605 disease phenotype-associated
VAR_025605 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822]
VAR_025606 commonName VAR_025606
VAR_025606 disease not phenotype-associated
VAR_025607 commonName VAR_025607
VAR_025607 disease not phenotype-associated
VAR_025608 commonName VAR_025608
VAR_025608 disease not phenotype-associated
VAR_025609 commonName VAR_025609
VAR_025609 disease not phenotype-associated
VAR_025610 commonName VAR_025610
VAR_025610 disease not phenotype-associated
VAR_025611 commonName VAR_025611
VAR_025611 disease not phenotype-associated
VAR_025612 commonName VAR_025612
VAR_025612 disease not phenotype-associated
VAR_025613 commonName VAR_025613
VAR_025613 disease phenotype-associated
VAR_025613 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_025614 commonName VAR_025614
VAR_025614 disease phenotype-associated
VAR_025614 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_025615 commonName VAR_025615
VAR_025615 disease phenotype-associated
VAR_025615 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_025616 commonName VAR_025616
VAR_025616 disease phenotype-associated
VAR_025616 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_025617 commonName VAR_025617
VAR_025617 disease phenotype-associated
VAR_025617 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_025625 commonName VAR_025625
VAR_025625 disease not phenotype-associated
VAR_025626 commonName VAR_025626
VAR_025626 disease not phenotype-associated
VAR_025628 commonName VAR_025628
VAR_025628 disease not phenotype-associated
VAR_025630 commonName VAR_025630
VAR_025630 disease phenotype-associated
VAR_025630 phenoCommon Retinitis pigmentosa type 11 (RP11) [MIM:600138]
VAR_025631 commonName VAR_025631
VAR_025631 disease phenotype-associated
VAR_025631 phenoCommon Retinitis pigmentosa type 11 (RP11) [MIM:600138]
VAR_025632 commonName VAR_025632
VAR_025633 commonName VAR_025633
VAR_025633 disease phenotype-associated
VAR_025633 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]
VAR_025634 commonName VAR_025634
VAR_025634 disease phenotype-associated
VAR_025634 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]
VAR_025635 commonName VAR_025635
VAR_025635 disease phenotype-associated
VAR_025635 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]
VAR_025636 commonName VAR_025636
VAR_025636 disease not phenotype-associated
VAR_025637 commonName VAR_025637
VAR_025637 disease not phenotype-associated
VAR_025638 commonName VAR_025638
VAR_025638 disease not phenotype-associated
VAR_025639 commonName VAR_025639
VAR_025639 disease not phenotype-associated
VAR_025640 commonName VAR_025640
VAR_025640 disease not phenotype-associated
VAR_025641 commonName VAR_025641
VAR_025641 disease not phenotype-associated
VAR_025642 commonName VAR_025642
VAR_025642 disease not phenotype-associated
VAR_025643 commonName VAR_025643
VAR_025643 disease not phenotype-associated
VAR_025644 commonName VAR_025644
VAR_025644 disease not phenotype-associated
VAR_025645 commonName VAR_025645
VAR_025645 disease not phenotype-associated
VAR_025647 commonName VAR_025647
VAR_025647 disease not phenotype-associated
VAR_025648 commonName VAR_025648
VAR_025648 disease not phenotype-associated
VAR_025649 commonName VAR_025649
VAR_025649 disease not phenotype-associated
VAR_025650 commonName VAR_025650
VAR_025650 disease not phenotype-associated
VAR_025651 commonName VAR_025651
VAR_025651 disease not phenotype-associated
VAR_025652 commonName VAR_025652
VAR_025652 disease not phenotype-associated
VAR_025653 commonName VAR_025653
VAR_025653 disease not phenotype-associated
VAR_025654 commonName VAR_025654
VAR_025654 disease not phenotype-associated
VAR_025655 commonName VAR_025655
VAR_025656 commonName VAR_025656
VAR_025656 disease not phenotype-associated
VAR_025657 commonName VAR_025657
VAR_025657 disease not phenotype-associated
VAR_025658 commonName VAR_025658
VAR_025658 disease not phenotype-associated
VAR_025659 commonName VAR_025659
VAR_025659 disease not phenotype-associated
VAR_025660 commonName VAR_025660
VAR_025660 disease not phenotype-associated
VAR_025661 commonName VAR_025661
VAR_025661 disease not phenotype-associated
VAR_025662 commonName VAR_025662
VAR_025662 disease not phenotype-associated
VAR_025663 commonName VAR_025663
VAR_025663 disease not phenotype-associated
VAR_025664 commonName VAR_025664
VAR_025664 disease not phenotype-associated
VAR_025665 commonName VAR_025665
VAR_025665 disease not phenotype-associated
VAR_025666 commonName VAR_025666
VAR_025666 disease phenotype-associated
VAR_025666 phenoCommon Stueve-Wiedemann syndrome (SWS) [MIM:601559]
VAR_025668 commonName VAR_025668
VAR_025668 disease not phenotype-associated
VAR_025669 commonName VAR_025669
VAR_025669 disease not phenotype-associated
VAR_025670 commonName VAR_025670
VAR_025670 disease not phenotype-associated
VAR_025671 commonName VAR_025671
VAR_025671 disease not phenotype-associated
VAR_025672 commonName VAR_025672
VAR_025672 disease not phenotype-associated
VAR_025673 commonName VAR_025673
VAR_025673 disease not phenotype-associated
VAR_025674 commonName VAR_025674
VAR_025674 disease not phenotype-associated
VAR_025675 commonName VAR_025675
VAR_025675 disease not phenotype-associated
VAR_025676 commonName VAR_025676
VAR_025676 disease not phenotype-associated
VAR_025677 commonName VAR_025677
VAR_025677 disease not phenotype-associated
VAR_025678 commonName VAR_025678
VAR_025678 disease not phenotype-associated
VAR_025679 commonName VAR_025679
VAR_025679 disease not phenotype-associated
VAR_025681 commonName VAR_025681
VAR_025681 disease not phenotype-associated
VAR_025682 commonName VAR_025682
VAR_025682 disease phenotype-associated
VAR_025682 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025683 commonName VAR_025683
VAR_025683 disease phenotype-associated
VAR_025683 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025684 commonName VAR_025684
VAR_025684 disease phenotype-associated
VAR_025684 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025685 commonName VAR_025685
HbVar.679 ethnic Black
VAR_025685 disease phenotype-associated
VAR_025685 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025686 commonName VAR_025686
VAR_025686 disease phenotype-associated
VAR_025686 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025687 commonName VAR_025687
VAR_025687 disease phenotype-associated
VAR_025687 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025688 commonName VAR_025688
VAR_025688 disease not phenotype-associated
VAR_025689 commonName VAR_025689
VAR_025689 disease phenotype-associated
VAR_025689 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025690 commonName VAR_025690
VAR_025690 disease phenotype-associated
VAR_025690 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
VAR_025691 commonName VAR_025691
VAR_025691 disease not phenotype-associated
VAR_025692 commonName VAR_025692
VAR_025692 disease not phenotype-associated
VAR_025693 commonName VAR_025693
VAR_025693 disease not phenotype-associated
VAR_025694 commonName VAR_025694
VAR_025694 disease phenotype-associated
VAR_025694 phenoCommon Nanophthalmos 2 (NNO2) [MIM:609549]
VAR_025695 commonName VAR_025695
VAR_025695 disease not phenotype-associated
VAR_025696 commonName VAR_025696
VAR_025696 disease not phenotype-associated
VAR_025697 commonName VAR_025697
VAR_025697 disease not phenotype-associated
VAR_025698 commonName VAR_025698
VAR_025698 disease not phenotype-associated
VAR_025699 comment Colorectal adenocarcinomas cell line
VAR_025699 commonName VAR_025699
VAR_025701 commonName VAR_025701
VAR_025701 disease phenotype-associated
VAR_025701 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426]
VAR_025702 commonName VAR_025702
VAR_025702 disease not phenotype-associated
VAR_025703 commonName VAR_025703
VAR_025703 disease not phenotype-associated
VAR_025704 commonName VAR_025704
VAR_025704 disease phenotype-associated
VAR_025704 phenoCommon Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
VAR_025705 commonName VAR_025705
VAR_025705 disease phenotype-associated
VAR_025705 phenoCommon Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
VAR_025706 commonName VAR_025706
VAR_025706 disease not phenotype-associated
VAR_025707 commonName VAR_025707
VAR_025707 disease phenotype-associated
VAR_025707 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025708 commonName VAR_025708
VAR_025708 disease not phenotype-associated
VAR_025709 commonName VAR_025709
VAR_025709 disease phenotype-associated
VAR_025709 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025710 commonName VAR_025710
VAR_025710 disease phenotype-associated
VAR_025710 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025711 commonName VAR_025711
VAR_025711 disease not phenotype-associated
VAR_025712 commonName VAR_025712
VAR_025712 disease not phenotype-associated
VAR_025713 commonName VAR_025713
VAR_025713 disease phenotype-associated
VAR_025713 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025714 commonName VAR_025714
VAR_025714 disease phenotype-associated
VAR_025714 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025715 commonName VAR_025715
VAR_025715 disease phenotype-associated
VAR_025715 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]
VAR_025716 commonName VAR_025716
VAR_025716 disease not phenotype-associated
VAR_025717 commonName VAR_025717
VAR_025717 disease not phenotype-associated
VAR_025718 commonName VAR_025718
VAR_025718 disease not phenotype-associated
VAR_025719 commonName VAR_025719
VAR_025719 disease phenotype-associated
VAR_025719 phenoCommon Deafness autosomal recessive type 28 (DFNB28) [MIM:609823]
VAR_025720 commonName VAR_025720
VAR_025720 disease not phenotype-associated
VAR_025721 commonName VAR_025721
VAR_025721 disease not phenotype-associated
VAR_025722 commonName VAR_025722
VAR_025722 disease not phenotype-associated
VAR_025723 commonName VAR_025723
VAR_025723 disease not phenotype-associated
VAR_025727 commonName VAR_025727
VAR_025727 disease not phenotype-associated
VAR_025728 commonName VAR_025728
VAR_025728 disease not phenotype-associated
VAR_025729 commonName VAR_025729
VAR_025729 disease not phenotype-associated
VAR_025730 commonName VAR_025730
VAR_025730 disease not phenotype-associated
VAR_025731 commonName VAR_025731
VAR_025732 commonName VAR_025732
VAR_025732 disease phenotype-associated
VAR_025732 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025733 commonName VAR_025733
VAR_025733 disease phenotype-associated
VAR_025733 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025734 commonName VAR_025734
VAR_025734 disease phenotype-associated
VAR_025734 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025735 commonName VAR_025735
VAR_025735 disease phenotype-associated
VAR_025735 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025736 commonName VAR_025736
VAR_025737 commonName VAR_025737
VAR_025737 disease phenotype-associated
VAR_025737 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025738 commonName VAR_025738
VAR_025738 disease phenotype-associated
VAR_025738 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025739 commonName VAR_025739
VAR_025739 disease phenotype-associated
VAR_025739 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025740 commonName VAR_025740
VAR_025741 commonName VAR_025741
VAR_025741 disease phenotype-associated
VAR_025741 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025742 commonName VAR_025742
VAR_025742 disease phenotype-associated
VAR_025742 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025743 commonName VAR_025743
VAR_025743 disease phenotype-associated
VAR_025743 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025744 commonName VAR_025744
VAR_025744 disease phenotype-associated
VAR_025744 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025745 commonName VAR_025745
VAR_025745 disease phenotype-associated
VAR_025745 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025746 commonName VAR_025746
VAR_025746 disease phenotype-associated
VAR_025746 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025747 commonName VAR_025747
VAR_025747 disease phenotype-associated
VAR_025747 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025748 commonName VAR_025748
VAR_025748 disease phenotype-associated
VAR_025748 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025749 commonName VAR_025749
VAR_025749 disease phenotype-associated
VAR_025749 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025750 commonName VAR_025750
VAR_025750 disease phenotype-associated
VAR_025750 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025751 commonName VAR_025751
VAR_025751 disease phenotype-associated
VAR_025751 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025752 commonName VAR_025752
VAR_025752 disease phenotype-associated
VAR_025752 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025753 commonName VAR_025753
VAR_025753 disease phenotype-associated
VAR_025753 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_025754 commonName VAR_025754
VAR_025754 disease not phenotype-associated
VAR_025755 commonName VAR_025755
VAR_025755 disease not phenotype-associated
VAR_025756 commonName VAR_025756
VAR_025756 disease not phenotype-associated
VAR_025757 commonName VAR_025757
VAR_025757 disease not phenotype-associated
VAR_025758 commonName VAR_025758
VAR_025758 disease not phenotype-associated
VAR_025759 commonName VAR_025759
VAR_025759 disease not phenotype-associated
VAR_025760 commonName VAR_025760
VAR_025760 disease not phenotype-associated
VAR_025761 commonName VAR_025761
VAR_025761 disease phenotype-associated
VAR_025761 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025762 commonName VAR_025762
VAR_025762 disease phenotype-associated
VAR_025762 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025763 commonName VAR_025763
VAR_025763 disease phenotype-associated
VAR_025763 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025764 commonName VAR_025764
VAR_025764 disease phenotype-associated
VAR_025764 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025765 commonName VAR_025765
VAR_025765 disease phenotype-associated
VAR_025765 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025766 commonName VAR_025766
VAR_025766 disease phenotype-associated
VAR_025766 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025767 commonName VAR_025767
VAR_025767 disease phenotype-associated
VAR_025767 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_025767 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025768 commonName VAR_025768
VAR_025768 disease phenotype-associated
VAR_025768 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_025768 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025769 commonName VAR_025769
VAR_025769 disease phenotype-associated
VAR_025769 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025770 commonName VAR_025770
VAR_025770 disease phenotype-associated
VAR_025770 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025771 commonName VAR_025771
VAR_025771 disease phenotype-associated
VAR_025771 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025772 commonName VAR_025772
VAR_025772 disease not phenotype-associated
VAR_025773 commonName VAR_025773
VAR_025773 disease not phenotype-associated
VAR_025774 commonName VAR_025774
VAR_025774 disease phenotype-associated
VAR_025774 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025775 commonName VAR_025775
VAR_025775 disease phenotype-associated
VAR_025775 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_025775 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025776 commonName VAR_025776
VAR_025776 disease phenotype-associated
VAR_025776 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025777 commonName VAR_025777
VAR_025777 disease not phenotype-associated
VAR_025778 commonName VAR_025778
VAR_025778 disease not phenotype-associated
VAR_025779 commonName VAR_025779
VAR_025779 disease phenotype-associated
VAR_025779 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025780 commonName VAR_025780
VAR_025780 disease phenotype-associated
VAR_025780 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_025780 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_025781 commonName VAR_025781
VAR_025782 commonName VAR_025782
VAR_025782 disease not phenotype-associated
VAR_025783 commonName VAR_025783
VAR_025783 disease not phenotype-associated
VAR_025784 commonName VAR_025784
VAR_025784 disease phenotype-associated
VAR_025784 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_025786 commonName VAR_025786
VAR_025786 disease not phenotype-associated
VAR_025787 commonName VAR_025787
VAR_025787 disease not phenotype-associated
VAR_025788 commonName VAR_025788
VAR_025788 disease not phenotype-associated
VAR_025789 commonName VAR_025789
VAR_025789 disease phenotype-associated
VAR_025789 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_025790 commonName VAR_025790
VAR_025790 disease phenotype-associated
VAR_025790 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_025791 commonName VAR_025791
VAR_025791 disease not phenotype-associated
VAR_025792 commonName VAR_025792
VAR_025793 commonName VAR_025793
VAR_025794 commonName VAR_025794
VAR_025794 disease not phenotype-associated
VAR_025795 commonName VAR_025795
VAR_025795 disease phenotype-associated
VAR_025795 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_025796 commonName VAR_025796
VAR_025797 commonName VAR_025797
VAR_025797 disease not phenotype-associated
VAR_025798 commonName VAR_025798
VAR_025798 disease not phenotype-associated
VAR_025799 commonName VAR_025799
VAR_025799 disease not phenotype-associated
VAR_025800 commonName VAR_025800
VAR_025800 disease not phenotype-associated
VAR_025801 commonName VAR_025801
VAR_025801 disease not phenotype-associated
VAR_025802 commonName VAR_025802
VAR_025802 disease not phenotype-associated
VAR_025803 commonName VAR_025803
VAR_025803 disease not phenotype-associated
VAR_025804 commonName VAR_025804
VAR_025804 disease phenotype-associated
VAR_025804 phenoCommon Glutaric aciduria type 2B (GA2B) [MIM:231680]
VAR_025805 commonName VAR_025805
VAR_025805 disease not phenotype-associated
VAR_025806 commonName VAR_025806
VAR_025806 disease not phenotype-associated
VAR_025808 commonName VAR_025808
VAR_025808 disease not phenotype-associated
VAR_025809 commonName VAR_025809
VAR_025809 disease not phenotype-associated
VAR_025810 commonName VAR_025810
VAR_025810 disease not phenotype-associated
VAR_025811 commonName VAR_025811
VAR_025811 disease not phenotype-associated
VAR_025812 commonName VAR_025812
VAR_025812 disease not phenotype-associated
VAR_025813 commonName VAR_025813
VAR_025813 disease not phenotype-associated
VAR_025814 commonName VAR_025814
VAR_025814 disease not phenotype-associated
VAR_025815 commonName VAR_025815
VAR_025815 disease not phenotype-associated
VAR_025816 commonName VAR_025816
VAR_025816 disease not phenotype-associated
VAR_025817 commonName VAR_025817
VAR_025817 disease not phenotype-associated
VAR_025818 commonName VAR_025818
VAR_025818 disease not phenotype-associated
VAR_025819 commonName VAR_025819
VAR_025819 disease not phenotype-associated
VAR_025820 commonName VAR_025820
VAR_025820 disease not phenotype-associated
VAR_025821 commonName VAR_025821
VAR_025821 disease not phenotype-associated
VAR_025822 commonName VAR_025822
VAR_025822 disease not phenotype-associated
VAR_025823 commonName VAR_025823
VAR_025823 disease not phenotype-associated
VAR_025825 commonName VAR_025825
VAR_025825 disease not phenotype-associated
VAR_025826 commonName VAR_025826
VAR_025826 disease not phenotype-associated
VAR_025827 commonName VAR_025827
VAR_025827 disease not phenotype-associated
VAR_025828 commonName VAR_025828
VAR_025828 disease not phenotype-associated
VAR_025829 commonName VAR_025829
VAR_025829 disease not phenotype-associated
VAR_025830 commonName VAR_025830
VAR_025830 disease not phenotype-associated
VAR_025831 commonName VAR_025831
VAR_025831 disease not phenotype-associated
VAR_025832 commonName VAR_025832
VAR_025832 disease not phenotype-associated
VAR_025833 commonName VAR_025833
VAR_025833 disease not phenotype-associated
VAR_025834 commonName VAR_025834
VAR_025834 disease not phenotype-associated
VAR_025835 commonName VAR_025835
VAR_025835 disease not phenotype-associated
VAR_025836 commonName VAR_025836
VAR_025836 disease not phenotype-associated
VAR_025837 commonName VAR_025837
VAR_025837 disease not phenotype-associated
VAR_025838 commonName VAR_025838
VAR_025838 disease not phenotype-associated
VAR_025839 commonName VAR_025839
VAR_025839 disease not phenotype-associated
VAR_025840 commonName VAR_025840
VAR_025840 disease not phenotype-associated
VAR_025847 commonName VAR_025847
VAR_025847 disease not phenotype-associated
VAR_025848 commonName VAR_025848
VAR_025848 disease not phenotype-associated
VAR_025849 commonName VAR_025849
VAR_025849 disease phenotype-associated
VAR_025849 phenoCommon Peeling skin syndrome type A (APSS) [MIM:609796]
VAR_025850 commonName VAR_025850
VAR_025850 disease phenotype-associated
VAR_025850 phenoCommon Spondylocostal dysostosis type 3 (SCDO3) [MIM:609813]
VAR_025851 commonName VAR_025851
VAR_025851 disease phenotype-associated
VAR_025851 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025852 commonName VAR_025852
VAR_025852 disease phenotype-associated
VAR_025852 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025853 commonName VAR_025853
VAR_025853 disease phenotype-associated
VAR_025853 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025854 commonName VAR_025854
VAR_025854 disease phenotype-associated
VAR_025854 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025855 commonName VAR_025855
VAR_025855 disease phenotype-associated
VAR_025855 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025856 commonName VAR_025856
VAR_025856 disease phenotype-associated
VAR_025856 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025857 commonName VAR_025857
VAR_025857 disease phenotype-associated
VAR_025857 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]
VAR_025858 commonName VAR_025858
VAR_025858 disease not phenotype-associated
VAR_025859 commonName VAR_025859
VAR_025859 disease not phenotype-associated
VAR_025860 commonName VAR_025860
VAR_025860 disease not phenotype-associated
VAR_025861 commonName VAR_025861
VAR_025861 disease not phenotype-associated
VAR_025862 commonName VAR_025862
VAR_025862 disease not phenotype-associated
VAR_025864 commonName VAR_025864
VAR_025864 disease phenotype-associated
VAR_025864 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025865 commonName VAR_025865
VAR_025865 disease phenotype-associated
VAR_025865 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025866 commonName VAR_025866
VAR_025866 disease phenotype-associated
VAR_025866 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025867 commonName VAR_025867
VAR_025867 disease phenotype-associated
VAR_025867 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025868 commonName VAR_025868
VAR_025868 disease phenotype-associated
VAR_025868 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025869 commonName VAR_025869
VAR_025869 disease phenotype-associated
VAR_025869 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025870 commonName VAR_025870
VAR_025870 disease phenotype-associated
VAR_025870 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025871 commonName VAR_025871
VAR_025871 disease phenotype-associated
VAR_025871 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025872 commonName VAR_025872
VAR_025872 disease phenotype-associated
VAR_025872 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025873 commonName VAR_025873
VAR_025873 disease phenotype-associated
VAR_025873 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_025874 commonName VAR_025874
VAR_025874 disease phenotype-associated
VAR_025874 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_025875 commonName VAR_025875
VAR_025875 disease phenotype-associated
VAR_025875 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025876 commonName VAR_025876
VAR_025876 disease phenotype-associated
VAR_025876 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025877 commonName VAR_025877
VAR_025877 disease phenotype-associated
VAR_025877 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025878 commonName VAR_025878
VAR_025878 disease phenotype-associated
VAR_025878 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025879 commonName VAR_025879
VAR_025879 disease phenotype-associated
VAR_025879 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025880 commonName VAR_025880
VAR_025880 disease phenotype-associated
VAR_025880 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025881 commonName VAR_025881
VAR_025881 disease phenotype-associated
VAR_025881 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_025882 commonName VAR_025882
VAR_025882 disease phenotype-associated
VAR_025882 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025883 commonName VAR_025883
VAR_025883 disease phenotype-associated
VAR_025883 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025884 commonName VAR_025884
VAR_025884 disease phenotype-associated
VAR_025884 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025885 commonName VAR_025885
VAR_025885 disease phenotype-associated
VAR_025885 phenoCommon Age-related macular degeneration type 4 (ARMD4) [MIM:610698]
VAR_025885 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_025886 commonName VAR_025886
VAR_025886 disease phenotype-associated
VAR_025886 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025887 commonName VAR_025887
VAR_025887 disease phenotype-associated
VAR_025887 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_025888 commonName VAR_025888
VAR_025888 disease phenotype-associated
VAR_025888 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_025889 commonName VAR_025889
VAR_025889 disease not phenotype-associated
VAR_025890 commonName VAR_025890
VAR_025890 disease phenotype-associated
VAR_025890 phenoCommon D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
VAR_025891 commonName VAR_025891
VAR_025891 disease phenotype-associated
VAR_025891 phenoCommon D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
VAR_025895 commonName VAR_025895
VAR_025895 disease phenotype-associated
VAR_025895 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_025896 commonName VAR_025896
VAR_025896 disease phenotype-associated
VAR_025896 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_025897 commonName VAR_025897
VAR_025897 disease phenotype-associated
VAR_025897 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]
VAR_025898 commonName VAR_025898
VAR_025898 disease not phenotype-associated
VAR_025899 commonName VAR_025899
VAR_025899 disease not phenotype-associated
VAR_025900 commonName VAR_025900
VAR_025900 disease not phenotype-associated
VAR_025901 commonName VAR_025901
VAR_025901 disease phenotype-associated
VAR_025901 phenoCommon Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
VAR_025902 commonName VAR_025902
VAR_025902 disease phenotype-associated
VAR_025902 phenoCommon Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
VAR_025903 commonName VAR_025903
VAR_025903 disease phenotype-associated
VAR_025903 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025904 commonName VAR_025904
VAR_025904 disease phenotype-associated
VAR_025904 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025905 commonName VAR_025905
VAR_025905 disease phenotype-associated
VAR_025905 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025906 commonName VAR_025906
VAR_025906 disease phenotype-associated
VAR_025906 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025907 commonName VAR_025907
VAR_025907 disease phenotype-associated
VAR_025907 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025908 commonName VAR_025908
VAR_025908 disease phenotype-associated
VAR_025908 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025909 commonName VAR_025909
VAR_025909 disease phenotype-associated
VAR_025909 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025910 commonName VAR_025910
VAR_025910 disease phenotype-associated
VAR_025910 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025911 commonName VAR_025911
VAR_025911 disease phenotype-associated
VAR_025911 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025912 commonName VAR_025912
VAR_025912 disease phenotype-associated
VAR_025912 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025913 commonName VAR_025913
VAR_025913 disease phenotype-associated
VAR_025913 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025914 commonName VAR_025914
VAR_025914 disease phenotype-associated
VAR_025914 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025915 commonName VAR_025915
VAR_025915 disease phenotype-associated
VAR_025915 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025916 commonName VAR_025916
VAR_025916 disease phenotype-associated
VAR_025916 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025917 commonName VAR_025917
VAR_025917 disease phenotype-associated
VAR_025917 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025918 commonName VAR_025918
VAR_025918 disease phenotype-associated
VAR_025918 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025919 commonName VAR_025919
VAR_025919 disease phenotype-associated
VAR_025919 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025920 commonName VAR_025920
VAR_025920 disease phenotype-associated
VAR_025920 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025921 commonName VAR_025921
VAR_025921 disease phenotype-associated
VAR_025921 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025922 commonName VAR_025922
VAR_025922 disease phenotype-associated
VAR_025922 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025923 commonName VAR_025923
VAR_025923 disease phenotype-associated
VAR_025923 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025924 commonName VAR_025924
VAR_025924 disease phenotype-associated
VAR_025924 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025926 commonName VAR_025926
VAR_025926 disease phenotype-associated
VAR_025926 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025927 commonName VAR_025927
VAR_025927 disease phenotype-associated
VAR_025927 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025928 commonName VAR_025928
VAR_025928 disease phenotype-associated
VAR_025928 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025929 commonName VAR_025929
VAR_025929 disease phenotype-associated
VAR_025929 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025930 commonName VAR_025930
VAR_025930 disease phenotype-associated
VAR_025930 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025932 commonName VAR_025932
VAR_025932 disease phenotype-associated
VAR_025932 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025933 commonName VAR_025933
VAR_025933 disease phenotype-associated
VAR_025933 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025934 commonName VAR_025934
VAR_025934 disease phenotype-associated
VAR_025934 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025935 commonName VAR_025935
VAR_025935 disease phenotype-associated
VAR_025935 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025936 commonName VAR_025936
VAR_025936 disease phenotype-associated
VAR_025936 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025937 commonName VAR_025937
VAR_025937 disease phenotype-associated
VAR_025937 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025938 commonName VAR_025938
VAR_025938 disease phenotype-associated
VAR_025938 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025939 commonName VAR_025939
VAR_025939 disease phenotype-associated
VAR_025939 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025940 commonName VAR_025940
VAR_025940 disease phenotype-associated
VAR_025940 phenoCommon Hypophosphatasia (HOPS) [MIM:146300]
VAR_025941 commonName VAR_025941
VAR_025941 disease not phenotype-associated
VAR_025942 commonName VAR_025942
VAR_025942 disease not phenotype-associated
VAR_025943 commonName VAR_025943
VAR_025943 disease not phenotype-associated
VAR_025944 commonName VAR_025944
VAR_025944 disease not phenotype-associated
VAR_025945 commonName VAR_025945
VAR_025945 disease not phenotype-associated
VAR_025946 commonName VAR_025946
VAR_025946 disease not phenotype-associated
VAR_025947 commonName VAR_025947
VAR_025947 disease not phenotype-associated
VAR_025948 commonName VAR_025948
VAR_025948 disease not phenotype-associated
VAR_025950 commonName VAR_025950
VAR_025950 disease phenotype-associated
VAR_025950 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025952 commonName VAR_025952
VAR_025952 disease phenotype-associated
VAR_025952 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025953 commonName VAR_025953
VAR_025953 disease phenotype-associated
VAR_025953 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025954 commonName VAR_025954
VAR_025955 commonName VAR_025955
VAR_025956 commonName VAR_025956
VAR_025956 disease phenotype-associated
VAR_025956 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025957 commonName VAR_025957
VAR_025957 disease phenotype-associated
VAR_025957 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]
VAR_025958 commonName VAR_025958
VAR_025958 disease phenotype-associated
VAR_025958 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]
VAR_025959 commonName VAR_025959
VAR_025959 disease phenotype-associated
VAR_025959 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025960 commonName VAR_025960
VAR_025960 disease phenotype-associated
VAR_025960 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]
VAR_025961 commonName VAR_025961
VAR_025961 disease phenotype-associated
VAR_025961 phenoCommon Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]
VAR_025962 commonName VAR_025962
VAR_025963 commonName VAR_025963
VAR_025964 commonName VAR_025964
VAR_025965 commonName VAR_025965
VAR_025966 commonName VAR_025966
VAR_025966 disease phenotype-associated
VAR_025966 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]
VAR_025967 commonName VAR_025967
VAR_025967 disease phenotype-associated
VAR_025967 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]
VAR_025968 commonName VAR_025968
VAR_025968 disease phenotype-associated
VAR_025968 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]
VAR_025969 commonName VAR_025969
VAR_025969 disease phenotype-associated
VAR_025969 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]
VAR_025970 commonName VAR_025970
VAR_025970 disease not phenotype-associated
VAR_025971 commonName VAR_025971
VAR_025971 disease phenotype-associated
VAR_025971 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025972 commonName VAR_025972
VAR_025972 disease phenotype-associated
VAR_025972 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025973 commonName VAR_025973
VAR_025973 disease phenotype-associated
VAR_025973 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025974 commonName VAR_025974
VAR_025974 disease not phenotype-associated
VAR_025975 commonName VAR_025975
VAR_025975 disease phenotype-associated
VAR_025975 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_025976 commonName VAR_025976
VAR_025976 disease phenotype-associated
VAR_025976 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025977 commonName VAR_025977
VAR_025977 disease not phenotype-associated
VAR_025978 commonName VAR_025978
VAR_025978 disease not phenotype-associated
VAR_025979 commonName VAR_025979
VAR_025979 disease phenotype-associated
VAR_025979 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_025980 commonName VAR_025980
VAR_025980 disease not phenotype-associated
VAR_025981 commonName VAR_025981
VAR_025981 disease phenotype-associated
VAR_025981 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025981 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]
VAR_025982 commonName VAR_025982
VAR_025982 disease phenotype-associated
VAR_025982 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025983 commonName VAR_025983
VAR_025983 disease phenotype-associated
VAR_025983 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025984 commonName VAR_025984
VAR_025984 disease not phenotype-associated
VAR_025985 commonName VAR_025985
VAR_025985 disease phenotype-associated
VAR_025985 phenoCommon Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]
VAR_025986 commonName VAR_025986
VAR_025986 disease not phenotype-associated
VAR_025987 commonName VAR_025987
VAR_025987 disease phenotype-associated
VAR_025987 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_025988 commonName VAR_025988
VAR_025988 disease phenotype-associated
VAR_025988 phenoCommon Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]
VAR_025989 commonName VAR_025989
VAR_025989 disease phenotype-associated
VAR_025989 phenoCommon Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909]
VAR_025991 commonName VAR_025991
VAR_025991 disease not phenotype-associated
VAR_025992 commonName VAR_025992
VAR_025992 disease phenotype-associated
VAR_025992 phenoCommon Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]
VAR_025993 commonName VAR_025993
VAR_025993 disease phenotype-associated
VAR_025993 phenoCommon Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]
VAR_025994 commonName VAR_025994
VAR_025994 disease not phenotype-associated
VAR_025995 commonName VAR_025995
VAR_025995 disease not phenotype-associated
VAR_025996 commonName VAR_025996
VAR_025996 disease not phenotype-associated
VAR_025997 commonName VAR_025997
VAR_025997 disease not phenotype-associated
VAR_025998 commonName VAR_025998
VAR_025998 disease not phenotype-associated
VAR_025999 commonName VAR_025999
VAR_025999 disease not phenotype-associated
VAR_026000 commonName VAR_026000
VAR_026000 disease not phenotype-associated
VAR_026001 commonName VAR_026001
VAR_026001 disease not phenotype-associated
VAR_026002 commonName VAR_026002
VAR_026002 disease not phenotype-associated
VAR_026003 commonName VAR_026003
VAR_026003 disease not phenotype-associated
VAR_026004 commonName VAR_026004
VAR_026004 disease not phenotype-associated
VAR_026005 commonName VAR_026005
VAR_026005 disease not phenotype-associated
VAR_026006 commonName VAR_026006
VAR_026006 disease not phenotype-associated
VAR_026007 commonName VAR_026007
VAR_026007 disease not phenotype-associated
VAR_026008 commonName VAR_026008
VAR_026008 disease not phenotype-associated
VAR_026009 commonName VAR_026009
VAR_026009 disease not phenotype-associated
VAR_026010 commonName VAR_026010
VAR_026010 disease not phenotype-associated
VAR_026011 commonName VAR_026011
VAR_026011 disease not phenotype-associated
VAR_026012 commonName VAR_026012
VAR_026012 disease not phenotype-associated
VAR_026013 commonName VAR_026013
VAR_026013 disease not phenotype-associated
VAR_026014 commonName VAR_026014
VAR_026014 disease not phenotype-associated
VAR_026015 commonName VAR_026015
VAR_026016 commonName VAR_026016
VAR_026017 commonName VAR_026017
VAR_026018 commonName VAR_026018
VAR_026019 commonName VAR_026019
VAR_026020 commonName VAR_026020
VAR_026020 disease not phenotype-associated
VAR_026021 commonName VAR_026021
VAR_026021 disease not phenotype-associated
VAR_026022 commonName VAR_026022
VAR_026022 disease phenotype-associated
VAR_026022 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_026023 commonName VAR_026023
VAR_026023 disease phenotype-associated
VAR_026023 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026024 commonName VAR_026024
VAR_026024 disease phenotype-associated
VAR_026024 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_026025 commonName VAR_026025
VAR_026025 disease phenotype-associated
VAR_026025 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026026 commonName VAR_026026
VAR_026026 disease phenotype-associated
VAR_026026 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_026027 commonName VAR_026027
VAR_026027 disease phenotype-associated
VAR_026027 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026028 commonName VAR_026028
VAR_026028 disease phenotype-associated
VAR_026028 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026029 commonName VAR_026029
VAR_026029 disease phenotype-associated
VAR_026029 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026030 commonName VAR_026030
VAR_026030 disease phenotype-associated
VAR_026030 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026031 commonName VAR_026031
VAR_026031 disease phenotype-associated
VAR_026031 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_026032 commonName VAR_026032
VAR_026033 commonName VAR_026033
VAR_026033 disease phenotype-associated
VAR_026033 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026034 commonName VAR_026034
VAR_026034 disease phenotype-associated
VAR_026034 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026035 commonName VAR_026035
VAR_026035 disease phenotype-associated
VAR_026035 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026036 commonName VAR_026036
VAR_026036 disease phenotype-associated
VAR_026036 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
VAR_026037 commonName VAR_026037
VAR_026037 disease phenotype-associated
VAR_026037 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026038 commonName VAR_026038
VAR_026038 disease phenotype-associated
VAR_026038 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
VAR_026039 commonName VAR_026039
VAR_026039 disease not phenotype-associated
VAR_026042 commonName VAR_026042
VAR_026042 disease not phenotype-associated
VAR_026043 commonName VAR_026043
VAR_026043 disease not phenotype-associated
VAR_026044 commonName VAR_026044
VAR_026044 disease not phenotype-associated
VAR_026045 commonName VAR_026045
VAR_026045 disease phenotype-associated
VAR_026045 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_026046 commonName VAR_026046
VAR_026046 disease phenotype-associated
VAR_026046 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_026047 commonName VAR_026047
VAR_026047 disease phenotype-associated
VAR_026047 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_026048 commonName VAR_026048
VAR_026048 disease phenotype-associated
VAR_026048 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_026049 commonName VAR_026049
VAR_026049 disease phenotype-associated
VAR_026049 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_026050 commonName VAR_026050
VAR_026050 disease phenotype-associated
VAR_026050 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_026052 commonName VAR_026052
VAR_026052 disease phenotype-associated
VAR_026052 phenoCommon Colorectal cancer (CRC) [MIM:114500]
VAR_026053 commonName VAR_026053
VAR_026053 disease not phenotype-associated
VAR_026054 commonName VAR_026054
VAR_026054 disease not phenotype-associated
VAR_026055 commonName VAR_026055
VAR_026055 disease not phenotype-associated
VAR_026056 commonName VAR_026056
VAR_026056 disease not phenotype-associated
VAR_026057 commonName VAR_026057
VAR_026057 disease not phenotype-associated
VAR_026058 commonName VAR_026058
VAR_026058 disease phenotype-associated
VAR_026058 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_026084 commonName VAR_026084
VAR_026085 commonName VAR_026085
VAR_026086 commonName VAR_026086
VAR_026087 commonName VAR_026087
VAR_026087 disease not phenotype-associated
VAR_026088 commonName VAR_026088
VAR_026089 commonName VAR_026089
VAR_026090 commonName VAR_026090
VAR_026093 commonName VAR_026093
VAR_026095 commonName VAR_026095
VAR_026097 commonName VAR_026097
VAR_026098 commonName VAR_026098
VAR_026099 commonName VAR_026099
VAR_026100 commonName VAR_026100
VAR_026101 commonName VAR_026101
VAR_026102 commonName VAR_026102
VAR_026103 commonName VAR_026103
VAR_026104 commonName VAR_026104
VAR_026104 disease phenotype-associated
VAR_026104 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_026105 commonName VAR_026105
VAR_026105 disease phenotype-associated
VAR_026105 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_026106 commonName VAR_026106
VAR_026106 disease phenotype-associated
VAR_026106 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_026107 commonName VAR_026107
VAR_026107 disease phenotype-associated
VAR_026107 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_026108 commonName VAR_026108
VAR_026108 disease phenotype-associated
VAR_026108 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_026109 commonName VAR_026109
VAR_026109 disease phenotype-associated
VAR_026109 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_026110 commonName VAR_026110
VAR_026110 disease phenotype-associated
VAR_026110 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026111 commonName VAR_026111
VAR_026111 disease phenotype-associated
VAR_026111 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_026112 commonName VAR_026112
VAR_026112 disease phenotype-associated
VAR_026112 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026113 commonName VAR_026113
VAR_026113 disease phenotype-associated
VAR_026113 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026114 commonName VAR_026114
VAR_026114 disease phenotype-associated
VAR_026114 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026115 commonName VAR_026115
VAR_026115 disease phenotype-associated
VAR_026115 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026116 commonName VAR_026116
VAR_026116 disease phenotype-associated
VAR_026116 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026117 commonName VAR_026117
VAR_026117 disease phenotype-associated
VAR_026117 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026118 commonName VAR_026118
VAR_026118 disease phenotype-associated
VAR_026118 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026119 commonName VAR_026119
VAR_026119 disease phenotype-associated
VAR_026119 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_026120 commonName VAR_026120
VAR_026120 disease not phenotype-associated
VAR_026121 commonName VAR_026121
VAR_026121 disease not phenotype-associated
VAR_026125 commonName VAR_026125
VAR_026125 disease not phenotype-associated
VAR_026126 commonName VAR_026126
VAR_026126 disease not phenotype-associated
VAR_026129 commonName VAR_026129
VAR_026129 disease phenotype-associated
VAR_026129 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_026130 commonName VAR_026130
VAR_026130 disease phenotype-associated
VAR_026130 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_026131 commonName VAR_026131
VAR_026131 disease phenotype-associated
VAR_026131 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_026132 commonName VAR_026132
VAR_026132 disease phenotype-associated
VAR_026132 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_026133 commonName VAR_026133
VAR_026133 disease not phenotype-associated
VAR_026134 commonName VAR_026134
VAR_026134 disease phenotype-associated
VAR_026134 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026135 commonName VAR_026135
VAR_026135 disease phenotype-associated
VAR_026135 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026136 commonName VAR_026136
VAR_026136 disease phenotype-associated
VAR_026136 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_026137 commonName VAR_026137
VAR_026137 disease phenotype-associated
VAR_026137 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026138 commonName VAR_026138
VAR_026138 disease phenotype-associated
VAR_026138 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026139 commonName VAR_026139
VAR_026139 disease phenotype-associated
VAR_026139 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026139 phenoCommon Gilbert syndrome (GILBS) [MIM:143500]
VAR_026140 commonName VAR_026140
VAR_026140 disease phenotype-associated
VAR_026140 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026140 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026141 commonName VAR_026141
VAR_026141 disease phenotype-associated
VAR_026141 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026142 commonName VAR_026142
VAR_026142 disease phenotype-associated
VAR_026142 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026143 commonName VAR_026143
VAR_026143 disease phenotype-associated
VAR_026143 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026144 commonName VAR_026144
VAR_026144 disease phenotype-associated
VAR_026144 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026144 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026145 commonName VAR_026145
VAR_026145 disease phenotype-associated
VAR_026145 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026145 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026146 commonName VAR_026146
VAR_026146 disease phenotype-associated
VAR_026146 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026147 commonName VAR_026147
VAR_026147 disease phenotype-associated
VAR_026147 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026148 commonName VAR_026148
VAR_026148 disease phenotype-associated
VAR_026148 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026149 commonName VAR_026149
VAR_026149 disease phenotype-associated
VAR_026149 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_026149 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026150 commonName VAR_026150
VAR_026150 disease phenotype-associated
VAR_026150 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_026151 commonName VAR_026151
VAR_026151 disease not phenotype-associated
VAR_026152 commonName VAR_026152
VAR_026152 disease not phenotype-associated
VAR_026153 commonName VAR_026153
VAR_026154 commonName VAR_026154
VAR_026154 disease not phenotype-associated
VAR_026155 commonName VAR_026155
VAR_026155 disease not phenotype-associated
VAR_026156 commonName VAR_026156
VAR_026156 disease not phenotype-associated
VAR_026157 commonName VAR_026157
VAR_026157 disease not phenotype-associated
VAR_026158 commonName VAR_026158
VAR_026158 disease not phenotype-associated
VAR_026159 commonName VAR_026159
VAR_026159 disease not phenotype-associated
VAR_026160 commonName VAR_026160
VAR_026160 disease not phenotype-associated
VAR_026161 commonName VAR_026161
VAR_026161 disease not phenotype-associated
VAR_026162 commonName VAR_026162
VAR_026162 disease not phenotype-associated
VAR_026164 commonName VAR_026164
VAR_026164 disease not phenotype-associated
VAR_026165 commonName VAR_026165
VAR_026165 disease not phenotype-associated
VAR_026166 comment Cancer
VAR_026166 commonName VAR_026166
VAR_026167 comment Cancer
VAR_026167 commonName VAR_026167
VAR_026168 comment Cancer
VAR_026168 commonName VAR_026168
VAR_026169 comment Cancer
VAR_026169 commonName VAR_026169
VAR_026170 commonName VAR_026170
VAR_026170 disease not phenotype-associated
VAR_026171 comment Cancer
VAR_026171 commonName VAR_026171
VAR_026172 comment Cancer
VAR_026172 commonName VAR_026172
VAR_026173 commonName VAR_026173
VAR_026173 disease phenotype-associated
VAR_026173 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_026174 comment Cancer
VAR_026174 commonName VAR_026174
VAR_026175 comment Cancer
VAR_026175 commonName VAR_026175
VAR_026176 comment Cancer
VAR_026176 commonName VAR_026176
VAR_026177 commonName VAR_026177
VAR_026177 disease phenotype-associated
VAR_026177 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_026178 commonName VAR_026178
VAR_026178 disease phenotype-associated
VAR_026178 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_026179 comment Cancer
VAR_026179 commonName VAR_026179
VAR_026180 comment Cancer
VAR_026180 commonName VAR_026180
VAR_026181 comment Cancer
VAR_026181 commonName VAR_026181
VAR_026182 comment Cancer
VAR_026182 commonName VAR_026182
VAR_026183 comment Cancer
VAR_026183 commonName VAR_026183
VAR_026184 comment Cancer
VAR_026184 commonName VAR_026184
VAR_026185 comment Cancer
VAR_026185 commonName VAR_026185
VAR_026186 comment Cancer
VAR_026186 commonName VAR_026186
VAR_026187 comment Cancer
VAR_026187 commonName VAR_026187
VAR_026188 comment Cancer
VAR_026188 commonName VAR_026188
VAR_026189 comment Cancer
VAR_026189 commonName VAR_026189
VAR_026190 comment Cancer
VAR_026190 commonName VAR_026190
VAR_026191 comment Cancer
VAR_026191 commonName VAR_026191
VAR_026192 commonName VAR_026192
VAR_026192 disease phenotype-associated
VAR_026192 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000]
VAR_026193 comment Cancer
VAR_026193 commonName VAR_026193
VAR_026194 comment Cancer
VAR_026194 commonName VAR_026194
VAR_026195 comment Cancer
VAR_026195 commonName VAR_026195
VAR_026196 comment Cancer
VAR_026196 commonName VAR_026196
VAR_026197 comment Cancer
VAR_026197 commonName VAR_026197
VAR_026198 commonName VAR_026198
VAR_026198 disease not phenotype-associated
VAR_026199 commonName VAR_026199
VAR_026199 disease phenotype-associated
VAR_026199 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026200 commonName VAR_026200
VAR_026200 disease phenotype-associated
VAR_026200 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026201 commonName VAR_026201
VAR_026201 disease phenotype-associated
VAR_026201 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026202 commonName VAR_026202
VAR_026202 disease phenotype-associated
VAR_026202 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026203 commonName VAR_026203
VAR_026203 disease phenotype-associated
VAR_026203 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026204 commonName VAR_026204
VAR_026204 disease phenotype-associated
VAR_026204 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026205 commonName VAR_026205
VAR_026205 disease phenotype-associated
VAR_026205 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026206 commonName VAR_026206
VAR_026206 disease phenotype-associated
VAR_026206 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026207 commonName VAR_026207
VAR_026207 disease phenotype-associated
VAR_026207 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026208 commonName VAR_026208
VAR_026208 disease phenotype-associated
VAR_026208 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026209 commonName VAR_026209
VAR_026209 disease phenotype-associated
VAR_026209 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026210 commonName VAR_026210
VAR_026210 disease phenotype-associated
VAR_026210 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
VAR_026211 commonName VAR_026211
VAR_026211 disease not phenotype-associated
VAR_026212 commonName VAR_026212
VAR_026212 disease not phenotype-associated
VAR_026213 commonName VAR_026213
VAR_026213 disease not phenotype-associated
VAR_026214 commonName VAR_026214
VAR_026214 disease not phenotype-associated
VAR_026215 commonName VAR_026215
VAR_026215 disease not phenotype-associated
VAR_026216 commonName VAR_026216
VAR_026216 disease not phenotype-associated
VAR_026217 commonName VAR_026217
VAR_026217 disease phenotype-associated
VAR_026217 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]
VAR_026218 commonName VAR_026218
VAR_026218 disease phenotype-associated
VAR_026218 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]
VAR_026219 commonName VAR_026219
VAR_026219 disease phenotype-associated
VAR_026219 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]
VAR_026220 commonName VAR_026220
VAR_026220 disease not phenotype-associated
VAR_026221 commonName VAR_026221
VAR_026221 disease not phenotype-associated
VAR_026222 commonName VAR_026222
VAR_026222 disease not phenotype-associated
VAR_026223 commonName VAR_026223
VAR_026223 disease not phenotype-associated
VAR_026224 commonName VAR_026224
VAR_026224 disease not phenotype-associated
VAR_026225 commonName VAR_026225
VAR_026225 disease not phenotype-associated
VAR_026226 commonName VAR_026226
VAR_026226 disease phenotype-associated
VAR_026226 phenoCommon Immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1) [MIM:612782]
VAR_026227 commonName VAR_026227
VAR_026227 disease not phenotype-associated
VAR_026228 commonName VAR_026228
VAR_026229 commonName VAR_026229
VAR_026229 disease not phenotype-associated
VAR_026230 commonName VAR_026230
VAR_026230 disease phenotype-associated
VAR_026230 phenoCommon Danon disease (DAND) [MIM:300257]
VAR_026231 commonName VAR_026231
VAR_026231 disease not phenotype-associated
VAR_026232 commonName VAR_026232
VAR_026232 disease not phenotype-associated
VAR_026233 commonName VAR_026233
VAR_026233 disease not phenotype-associated
VAR_026234 commonName VAR_026234
VAR_026234 disease not phenotype-associated
VAR_026235 commonName VAR_026235
VAR_026235 disease not phenotype-associated
VAR_026236 commonName VAR_026236
VAR_026236 disease not phenotype-associated
VAR_026237 commonName VAR_026237
VAR_026237 disease not phenotype-associated
VAR_026238 commonName VAR_026238
VAR_026238 disease not phenotype-associated
VAR_026239 commonName VAR_026239
VAR_026239 disease phenotype-associated
VAR_026239 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_026240 commonName VAR_026240
VAR_026240 disease phenotype-associated
VAR_026240 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_026241 commonName VAR_026241
VAR_026241 disease phenotype-associated
VAR_026241 phenoCommon Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]
VAR_026242 commonName VAR_026242
VAR_026242 disease phenotype-associated
VAR_026242 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]
VAR_026243 commonName VAR_026243
VAR_026243 disease phenotype-associated
VAR_026243 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]
VAR_026244 commonName VAR_026244
VAR_026244 disease phenotype-associated
VAR_026244 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]
VAR_026245 commonName VAR_026245
VAR_026245 disease phenotype-associated
VAR_026245 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]
VAR_026248 commonName VAR_026248
VAR_026249 commonName VAR_026249
VAR_026250 commonName VAR_026250
VAR_026251 commonName VAR_026251
VAR_026252 commonName VAR_026252
VAR_026253 commonName VAR_026253
VAR_026254 commonName VAR_026254
VAR_026254 disease phenotype-associated
VAR_026254 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026255 commonName VAR_026255
VAR_026255 disease phenotype-associated
VAR_026255 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026256 commonName VAR_026256
VAR_026256 disease phenotype-associated
VAR_026256 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_026257 commonName VAR_026257
VAR_026257 disease phenotype-associated
VAR_026257 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480]
VAR_026258 commonName VAR_026258
VAR_026259 comment Glioblastoma
VAR_026259 commonName VAR_026259
VAR_026260 commonName VAR_026260
VAR_026260 disease phenotype-associated
VAR_026260 phenoCommon Endometrial cancer (ENDMC) [MIM:608089]
VAR_026261 commonName VAR_026261
VAR_026262 commonName VAR_026262
VAR_026263 commonName VAR_026263
VAR_026263 disease phenotype-associated
VAR_026263 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026264 comment Glioblastoma
VAR_026264 commonName VAR_026264
VAR_026265 comment Breast cancer
VAR_026265 commonName VAR_026265
VAR_026266 commonName VAR_026266
VAR_026267 commonName VAR_026267
VAR_026268 commonName VAR_026268
VAR_026269 commonName VAR_026269
VAR_026270 commonName VAR_026270
VAR_026271 commonName VAR_026271
VAR_026272 commonName VAR_026272
VAR_026273 commonName VAR_026273
VAR_026275 commonName VAR_026275
VAR_026275 disease phenotype-associated
VAR_026275 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026276 commonName VAR_026276
VAR_026276 disease phenotype-associated
VAR_026276 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026277 commonName VAR_026277
VAR_026277 disease phenotype-associated
VAR_026277 phenoCommon Cowden disease (CD) [MIM:158350]
VAR_026278 comment Glioblastoma
VAR_026278 commonName VAR_026278
VAR_026279 commonName VAR_026279
VAR_026280 commonName VAR_026280
VAR_026281 commonName VAR_026281
VAR_026282 commonName VAR_026282
VAR_026282 disease not phenotype-associated
VAR_026283 commonName VAR_026283
VAR_026283 disease not phenotype-associated
VAR_026284 commonName VAR_026284
VAR_026284 disease not phenotype-associated
VAR_026285 commonName VAR_026285
VAR_026285 disease not phenotype-associated
VAR_026286 commonName VAR_026286
VAR_026286 disease not phenotype-associated
VAR_026288 commonName VAR_026288
VAR_026288 disease not phenotype-associated
VAR_026289 commonName VAR_026289
VAR_026289 disease not phenotype-associated
VAR_026290 commonName VAR_026290
VAR_026290 disease not phenotype-associated
VAR_026291 commonName VAR_026291
VAR_026291 disease not phenotype-associated
VAR_026292 commonName VAR_026292
VAR_026292 disease not phenotype-associated
VAR_026293 commonName VAR_026293
VAR_026293 disease not phenotype-associated
VAR_026295 commonName VAR_026295
VAR_026295 disease not phenotype-associated
VAR_026297 commonName VAR_026297
VAR_026297 disease phenotype-associated
VAR_026297 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026298 commonName VAR_026298
VAR_026298 disease phenotype-associated
VAR_026298 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026299 commonName VAR_026299
VAR_026299 disease phenotype-associated
VAR_026299 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026300 commonName VAR_026300
VAR_026300 disease phenotype-associated
VAR_026300 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026301 commonName VAR_026301
VAR_026301 disease phenotype-associated
VAR_026301 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026302 commonName VAR_026302
VAR_026302 disease phenotype-associated
VAR_026302 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026303 commonName VAR_026303
VAR_026304 commonName VAR_026304
VAR_026305 commonName VAR_026305
VAR_026306 commonName VAR_026306
VAR_026306 disease phenotype-associated
VAR_026306 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026307 commonName VAR_026307
VAR_026307 disease phenotype-associated
VAR_026307 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026308 commonName VAR_026308
VAR_026308 disease phenotype-associated
VAR_026308 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026309 commonName VAR_026309
VAR_026309 disease phenotype-associated
VAR_026309 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026310 commonName VAR_026310
VAR_026310 disease phenotype-associated
VAR_026310 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026311 commonName VAR_026311
VAR_026311 disease phenotype-associated
VAR_026311 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026312 commonName VAR_026312
VAR_026312 disease phenotype-associated
VAR_026312 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026313 commonName VAR_026313
VAR_026313 disease phenotype-associated
VAR_026313 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026314 commonName VAR_026314
VAR_026314 disease phenotype-associated
VAR_026314 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026315 commonName VAR_026315
VAR_026315 disease phenotype-associated
VAR_026315 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026316 commonName VAR_026316
VAR_026317 commonName VAR_026317
VAR_026317 disease phenotype-associated
VAR_026317 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026318 commonName VAR_026318
VAR_026319 commonName VAR_026319
VAR_026319 disease phenotype-associated
VAR_026319 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026320 commonName VAR_026320
VAR_026320 disease phenotype-associated
VAR_026320 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026321 commonName VAR_026321
VAR_026321 disease phenotype-associated
VAR_026321 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026322 commonName VAR_026322
VAR_026322 disease phenotype-associated
VAR_026322 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026323 commonName VAR_026323
VAR_026323 disease phenotype-associated
VAR_026323 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026324 commonName VAR_026324
VAR_026325 commonName VAR_026325
VAR_026325 disease phenotype-associated
VAR_026325 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026326 commonName VAR_026326
VAR_026326 disease phenotype-associated
VAR_026326 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026327 commonName VAR_026327
VAR_026327 disease not phenotype-associated
VAR_026328 commonName VAR_026328
VAR_026328 disease not phenotype-associated
VAR_026329 commonName VAR_026329
VAR_026329 disease phenotype-associated
VAR_026329 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026330 commonName VAR_026330
VAR_026330 disease phenotype-associated
VAR_026330 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026331 commonName VAR_026331
VAR_026332 commonName VAR_026332
VAR_026332 disease phenotype-associated
VAR_026332 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026333 commonName VAR_026333
VAR_026333 disease phenotype-associated
VAR_026333 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026334 commonName VAR_026334
VAR_026335 commonName VAR_026335
VAR_026335 disease phenotype-associated
VAR_026335 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450]
VAR_026337 commonName VAR_026337
VAR_026338 commonName VAR_026338
VAR_026338 disease not phenotype-associated
VAR_026339 commonName VAR_026339
VAR_026339 disease not phenotype-associated
VAR_026340 commonName VAR_026340
VAR_026340 disease not phenotype-associated
VAR_026341 commonName VAR_026341
VAR_026341 disease phenotype-associated
VAR_026341 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026342 commonName VAR_026342
VAR_026342 disease not phenotype-associated
VAR_026343 commonName VAR_026343
VAR_026343 disease phenotype-associated
VAR_026343 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026344 commonName VAR_026344
VAR_026344 disease phenotype-associated
VAR_026344 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026344 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_026345 commonName VAR_026345
VAR_026345 disease phenotype-associated
VAR_026345 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026346 commonName VAR_026346
VAR_026346 disease phenotype-associated
VAR_026346 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026347 commonName VAR_026347
VAR_026347 disease phenotype-associated
VAR_026347 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026348 commonName VAR_026348
VAR_026348 disease phenotype-associated
VAR_026348 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026349 commonName VAR_026349
VAR_026349 disease phenotype-associated
VAR_026349 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026350 commonName VAR_026350
VAR_026350 disease phenotype-associated
VAR_026350 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026351 commonName VAR_026351
VAR_026351 disease phenotype-associated
VAR_026351 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026352 commonName VAR_026352
VAR_026352 disease phenotype-associated
VAR_026352 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026353 commonName VAR_026353
VAR_026353 disease phenotype-associated
VAR_026353 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026354 commonName VAR_026354
VAR_026354 disease phenotype-associated
VAR_026354 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026356 commonName VAR_026356
VAR_026356 disease not phenotype-associated
VAR_026357 commonName VAR_026357
VAR_026357 disease phenotype-associated
VAR_026357 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026358 commonName VAR_026358
VAR_026358 disease phenotype-associated
VAR_026358 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_026359 commonName VAR_026359
VAR_026359 disease phenotype-associated
VAR_026359 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026360 commonName VAR_026360
VAR_026360 disease phenotype-associated
VAR_026360 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026361 commonName VAR_026361
VAR_026361 disease phenotype-associated
VAR_026361 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026361 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_026362 commonName VAR_026362
VAR_026362 disease phenotype-associated
VAR_026362 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026363 commonName VAR_026363
VAR_026363 disease phenotype-associated
VAR_026363 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026364 commonName VAR_026364
VAR_026364 disease phenotype-associated
VAR_026364 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026365 commonName VAR_026365
VAR_026365 disease phenotype-associated
VAR_026365 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026366 commonName VAR_026366
VAR_026366 disease phenotype-associated
VAR_026366 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026367 commonName VAR_026367
VAR_026367 disease not phenotype-associated
VAR_026368 commonName VAR_026368
VAR_026368 disease phenotype-associated
VAR_026368 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026368 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_026369 commonName VAR_026369
VAR_026369 disease phenotype-associated
VAR_026369 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026369 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_026370 commonName VAR_026370
VAR_026370 disease phenotype-associated
VAR_026370 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026371 commonName VAR_026371
VAR_026371 disease phenotype-associated
VAR_026371 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026372 commonName VAR_026372
VAR_026372 disease phenotype-associated
VAR_026372 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_026373 commonName VAR_026373
VAR_026373 disease phenotype-associated
VAR_026373 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026373 phenoCommon Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154]
VAR_026373 phenoCommon Familial atrial standstill (FAS) [MIM:108770]
VAR_026373 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_026374 commonName VAR_026374
VAR_026374 disease phenotype-associated
VAR_026374 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026375 commonName VAR_026375
VAR_026375 disease phenotype-associated
VAR_026375 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026376 commonName VAR_026376
VAR_026376 disease phenotype-associated
VAR_026376 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026377 commonName VAR_026377
VAR_026377 disease phenotype-associated
VAR_026377 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026378 commonName VAR_026378
VAR_026378 disease phenotype-associated
VAR_026378 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026379 commonName VAR_026379
VAR_026379 disease phenotype-associated
VAR_026379 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026382 commonName VAR_026382
VAR_026382 disease phenotype-associated
VAR_026382 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026383 commonName VAR_026383
VAR_026383 disease phenotype-associated
VAR_026383 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026384 commonName VAR_026384
VAR_026384 disease phenotype-associated
VAR_026384 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026385 commonName VAR_026385
VAR_026385 disease phenotype-associated
VAR_026385 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026386 commonName VAR_026386
VAR_026386 disease phenotype-associated
VAR_026386 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_026386 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_026388 commonName VAR_026388
VAR_026388 disease not phenotype-associated
VAR_026389 commonName VAR_026389
VAR_026389 disease phenotype-associated
VAR_026389 phenoCommon Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]
VAR_026390 commonName VAR_026390
VAR_026390 disease not phenotype-associated
VAR_026391 commonName VAR_026391
VAR_026391 disease phenotype-associated
VAR_026391 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026392 commonName VAR_026392
VAR_026392 disease phenotype-associated
VAR_026392 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026393 commonName VAR_026393
VAR_026393 disease phenotype-associated
VAR_026393 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026394 commonName VAR_026394
VAR_026394 disease phenotype-associated
VAR_026394 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026395 commonName VAR_026395
VAR_026395 disease phenotype-associated
VAR_026395 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026396 commonName VAR_026396
VAR_026396 disease phenotype-associated
VAR_026396 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026397 commonName VAR_026397
VAR_026397 disease phenotype-associated
VAR_026397 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026398 commonName VAR_026398
VAR_026398 disease phenotype-associated
VAR_026398 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026399 commonName VAR_026399
VAR_026399 disease phenotype-associated
VAR_026399 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026400 commonName VAR_026400
VAR_026400 disease phenotype-associated
VAR_026400 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026401 commonName VAR_026401
VAR_026401 disease phenotype-associated
VAR_026401 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026402 commonName VAR_026402
VAR_026402 disease not phenotype-associated
VAR_026403 commonName VAR_026403
VAR_026403 disease phenotype-associated
VAR_026403 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026404 commonName VAR_026404
VAR_026404 disease phenotype-associated
VAR_026404 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026405 commonName VAR_026405
VAR_026405 disease phenotype-associated
VAR_026405 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026406 commonName VAR_026406
VAR_026406 disease phenotype-associated
VAR_026406 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026407 commonName VAR_026407
VAR_026407 disease phenotype-associated
VAR_026407 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026408 commonName VAR_026408
VAR_026408 disease phenotype-associated
VAR_026408 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_026409 commonName VAR_026409
VAR_026409 disease not phenotype-associated
VAR_026410 commonName VAR_026410
VAR_026410 disease not phenotype-associated
VAR_026411 commonName VAR_026411
VAR_026411 disease not phenotype-associated
VAR_026412 commonName VAR_026412
VAR_026412 disease phenotype-associated
VAR_026412 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_026413 commonName VAR_026413
VAR_026413 disease phenotype-associated
VAR_026413 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_026414 commonName VAR_026414
VAR_026414 disease phenotype-associated
VAR_026414 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_026415 commonName VAR_026415
VAR_026415 disease not phenotype-associated
VAR_026416 commonName VAR_026416
VAR_026416 disease not phenotype-associated
VAR_026417 commonName VAR_026417
VAR_026417 disease not phenotype-associated
VAR_026428 commonName VAR_026428
VAR_026428 disease not phenotype-associated
VAR_026429 commonName VAR_026429
VAR_026429 disease not phenotype-associated
VAR_026430 commonName VAR_026430
VAR_026430 disease not phenotype-associated
VAR_026431 commonName VAR_026431
VAR_026431 disease not phenotype-associated
VAR_026432 commonName VAR_026432
VAR_026432 disease not phenotype-associated
VAR_026433 commonName VAR_026433
VAR_026433 disease not phenotype-associated
VAR_026434 commonName VAR_026434
VAR_026434 disease not phenotype-associated
VAR_026435 commonName VAR_026435
VAR_026435 disease not phenotype-associated
VAR_026436 commonName VAR_026436
VAR_026436 disease not phenotype-associated
VAR_026437 commonName VAR_026437
VAR_026437 disease not phenotype-associated
VAR_026446 commonName VAR_026446
VAR_026447 commonName VAR_026447
VAR_026447 disease not phenotype-associated
VAR_026448 commonName VAR_026448
VAR_026448 disease not phenotype-associated
VAR_026449 commonName VAR_026449
VAR_026450 commonName VAR_026450
VAR_026451 commonName VAR_026451
VAR_026451 disease not phenotype-associated
VAR_026453 commonName VAR_026453
VAR_026453 disease phenotype-associated
VAR_026453 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_026463 commonName VAR_026463
VAR_026463 disease not phenotype-associated
VAR_026464 commonName VAR_026464
VAR_026464 disease not phenotype-associated
VAR_026465 commonName VAR_026465
VAR_026465 disease not phenotype-associated
VAR_026466 commonName VAR_026466
VAR_026466 disease not phenotype-associated
VAR_026467 commonName VAR_026467
VAR_026467 disease not phenotype-associated
VAR_026468 commonName VAR_026468
VAR_026469 commonName VAR_026469
VAR_026469 disease not phenotype-associated
VAR_026470 commonName VAR_026470
VAR_026470 disease not phenotype-associated
VAR_026471 commonName VAR_026471
VAR_026471 disease not phenotype-associated
VAR_026472 commonName VAR_026472
VAR_026472 disease not phenotype-associated
VAR_026473 commonName VAR_026473
VAR_026473 disease not phenotype-associated
VAR_026474 commonName VAR_026474
VAR_026474 disease not phenotype-associated
VAR_026475 commonName VAR_026475
VAR_026475 disease not phenotype-associated
VAR_026476 commonName VAR_026476
VAR_026476 disease not phenotype-associated
VAR_026477 commonName VAR_026477
VAR_026477 disease not phenotype-associated
VAR_026478 commonName VAR_026478
VAR_026478 disease not phenotype-associated
VAR_026479 commonName VAR_026479
VAR_026479 disease not phenotype-associated
VAR_026480 commonName VAR_026480
VAR_026480 disease phenotype-associated
VAR_026480 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026481 commonName VAR_026481
VAR_026481 disease phenotype-associated
VAR_026481 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026483 commonName VAR_026483
VAR_026483 disease phenotype-associated
VAR_026483 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026484 commonName VAR_026484
VAR_026484 disease phenotype-associated
VAR_026484 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026485 commonName VAR_026485
VAR_026485 disease phenotype-associated
VAR_026485 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026486 commonName VAR_026486
VAR_026486 disease phenotype-associated
VAR_026486 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300]
VAR_026487 commonName VAR_026487
VAR_026487 disease not phenotype-associated
VAR_026488 commonName VAR_026488
VAR_026488 disease not phenotype-associated
VAR_026489 commonName VAR_026489
VAR_026489 disease not phenotype-associated
VAR_026490 commonName VAR_026490
VAR_026490 disease not phenotype-associated
VAR_026491 commonName VAR_026491
VAR_026491 disease phenotype-associated
VAR_026491 phenoCommon Incontinentia pigmenti (IP) [MIM:308300]
VAR_026493 commonName VAR_026493
VAR_026493 disease not phenotype-associated
VAR_026494 commonName VAR_026494
VAR_026494 disease phenotype-associated
VAR_026494 phenoCommon Incontinentia pigmenti (IP) [MIM:308300]
VAR_026495 commonName VAR_026495
VAR_026495 disease phenotype-associated
VAR_026495 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]
VAR_026496 commonName VAR_026496
VAR_026496 disease phenotype-associated
VAR_026496 phenoCommon Immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]
VAR_026497 commonName VAR_026497
VAR_026497 disease not phenotype-associated
VAR_026518 commonName VAR_026518
VAR_026518 disease phenotype-associated
VAR_026518 phenoCommon Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]
VAR_026519 commonName VAR_026519
VAR_026520 commonName VAR_026520
VAR_026520 disease phenotype-associated
VAR_026520 phenoCommon Liddle syndrome (LIDDS) [MIM:177200]
VAR_026521 commonName VAR_026521
VAR_026521 disease phenotype-associated
VAR_026521 phenoCommon Liddle syndrome (LIDDS) [MIM:177200]
VAR_026522 commonName VAR_026522
VAR_026522 disease phenotype-associated
VAR_026522 phenoCommon Liddle syndrome (LIDDS) [MIM:177200]
VAR_026523 commonName VAR_026523
VAR_026523 disease not phenotype-associated
VAR_026524 commonName VAR_026524
VAR_026524 disease not phenotype-associated
VAR_026525 commonName VAR_026525
VAR_026525 disease not phenotype-associated
VAR_026526 commonName VAR_026526
VAR_026526 disease not phenotype-associated
VAR_026527 commonName VAR_026527
VAR_026527 disease not phenotype-associated
VAR_026528 commonName VAR_026528
VAR_026528 disease not phenotype-associated
VAR_026529 commonName VAR_026529
VAR_026529 disease phenotype-associated
VAR_026529 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_026531 commonName VAR_026531
VAR_026531 disease not phenotype-associated
VAR_026532 commonName VAR_026532
VAR_026532 disease not phenotype-associated
VAR_026533 commonName VAR_026533
VAR_026533 disease phenotype-associated
VAR_026533 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_026534 commonName VAR_026534
VAR_026535 commonName VAR_026535
VAR_026535 disease phenotype-associated
VAR_026535 phenoCommon Sick sinus syndrome type 2 (SSS2) [MIM:163800]
VAR_026536 commonName VAR_026536
VAR_026536 disease phenotype-associated
VAR_026536 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026537 commonName VAR_026537
VAR_026537 disease phenotype-associated
VAR_026537 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_026538 commonName VAR_026538
VAR_026538 disease phenotype-associated
VAR_026538 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026539 commonName VAR_026539
VAR_026539 disease phenotype-associated
VAR_026539 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026540 commonName VAR_026540
VAR_026540 disease phenotype-associated
VAR_026540 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026541 commonName VAR_026541
VAR_026541 disease phenotype-associated
VAR_026541 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026542 commonName VAR_026542
VAR_026542 disease phenotype-associated
VAR_026542 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026543 commonName VAR_026543
VAR_026543 disease phenotype-associated
VAR_026543 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_026544 commonName VAR_026544
VAR_026544 disease phenotype-associated
VAR_026544 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_026545 commonName VAR_026545
VAR_026545 disease phenotype-associated
VAR_026545 phenoCommon Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]
VAR_026545 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_026546 commonName VAR_026546
VAR_026546 disease not phenotype-associated
VAR_026547 commonName VAR_026547
VAR_026547 disease not phenotype-associated
VAR_026548 commonName VAR_026548
VAR_026548 disease not phenotype-associated
VAR_026549 commonName VAR_026549
VAR_026549 disease not phenotype-associated
VAR_026550 commonName VAR_026550
VAR_026550 disease not phenotype-associated
VAR_026551 commonName VAR_026551
VAR_026551 disease not phenotype-associated
VAR_026552 commonName VAR_026552
VAR_026552 disease not phenotype-associated
VAR_026553 commonName VAR_026553
VAR_026553 disease not phenotype-associated
VAR_026554 commonName VAR_026554
VAR_026554 disease phenotype-associated
VAR_026554 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_026555 commonName VAR_026555
VAR_026555 disease phenotype-associated
VAR_026555 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_026556 commonName VAR_026556
VAR_026556 disease phenotype-associated
VAR_026556 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_026557 commonName VAR_026557
VAR_026557 disease phenotype-associated
VAR_026557 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_026558 commonName VAR_026558
VAR_026558 disease not phenotype-associated
VAR_026559 commonName VAR_026559
VAR_026559 disease not phenotype-associated
VAR_026560 commonName VAR_026560
VAR_026560 disease phenotype-associated
VAR_026560 phenoCommon Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
VAR_026561 commonName VAR_026561
VAR_026561 disease phenotype-associated
VAR_026561 phenoCommon Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
VAR_026562 commonName VAR_026562
VAR_026562 disease phenotype-associated
VAR_026562 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_026563 commonName VAR_026563
VAR_026563 disease phenotype-associated
VAR_026563 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_026564 commonName VAR_026564
VAR_026564 disease phenotype-associated
VAR_026564 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_026567 commonName VAR_026567
VAR_026567 disease not phenotype-associated
VAR_026568 commonName VAR_026568
VAR_026568 disease not phenotype-associated
VAR_026569 commonName VAR_026569
VAR_026569 disease phenotype-associated
VAR_026569 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
VAR_026570 commonName VAR_026570
VAR_026570 disease phenotype-associated
VAR_026570 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
VAR_026572 commonName VAR_026572
VAR_026572 disease not phenotype-associated
VAR_026573 commonName VAR_026573
VAR_026573 disease not phenotype-associated
VAR_026574 commonName VAR_026574
VAR_026574 disease not phenotype-associated
VAR_026575 commonName VAR_026575
VAR_026575 disease not phenotype-associated
VAR_026576 commonName VAR_026576
VAR_026576 disease not phenotype-associated
VAR_026577 commonName VAR_026577
VAR_026577 disease not phenotype-associated
VAR_026578 commonName VAR_026578
VAR_026578 disease not phenotype-associated
VAR_026579 commonName VAR_026579
VAR_026579 disease not phenotype-associated
VAR_026580 commonName VAR_026580
VAR_026580 disease not phenotype-associated
VAR_026581 commonName VAR_026581
VAR_026581 disease not phenotype-associated
VAR_026582 commonName VAR_026582
VAR_026582 disease not phenotype-associated
VAR_026584 commonName VAR_026584
VAR_026584 disease not phenotype-associated
VAR_026585 commonName VAR_026585
VAR_026585 disease not phenotype-associated
VAR_026586 commonName VAR_026586
VAR_026586 disease not phenotype-associated
VAR_026587 commonName VAR_026587
VAR_026587 disease not phenotype-associated
VAR_026588 commonName VAR_026588
VAR_026588 disease phenotype-associated
VAR_026588 phenoCommon Werner syndrome (WRN) [MIM:277700]
VAR_026589 commonName VAR_026589
VAR_026589 disease phenotype-associated
VAR_026589 phenoCommon Werner syndrome (WRN) [MIM:277700]
VAR_026590 commonName VAR_026590
VAR_026590 disease not phenotype-associated
VAR_026591 commonName VAR_026591
VAR_026591 disease phenotype-associated
VAR_026591 phenoCommon Baller-Gerold syndrome (BGS) [MIM:218600]
VAR_026592 commonName VAR_026592
VAR_026592 disease phenotype-associated
VAR_026592 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026593 commonName VAR_026593
VAR_026593 disease phenotype-associated
VAR_026593 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026594 commonName VAR_026594
VAR_026594 disease phenotype-associated
VAR_026594 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026595 commonName VAR_026595
VAR_026595 disease phenotype-associated
VAR_026595 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026596 commonName VAR_026596
VAR_026596 disease phenotype-associated
VAR_026596 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026597 commonName VAR_026597
VAR_026597 disease phenotype-associated
VAR_026597 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026598 commonName VAR_026598
VAR_026598 disease phenotype-associated
VAR_026598 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026599 commonName VAR_026599
VAR_026599 disease phenotype-associated
VAR_026599 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026600 commonName VAR_026600
VAR_026600 disease phenotype-associated
VAR_026600 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026601 commonName VAR_026601
VAR_026601 disease phenotype-associated
VAR_026601 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026602 commonName VAR_026602
VAR_026602 disease phenotype-associated
VAR_026602 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026603 commonName VAR_026603
VAR_026603 disease phenotype-associated
VAR_026603 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026604 commonName VAR_026604
VAR_026604 disease phenotype-associated
VAR_026604 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026605 commonName VAR_026605
VAR_026605 disease phenotype-associated
VAR_026605 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026606 commonName VAR_026606
VAR_026606 disease phenotype-associated
VAR_026606 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026607 commonName VAR_026607
VAR_026607 disease phenotype-associated
VAR_026607 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026608 commonName VAR_026608
VAR_026608 disease phenotype-associated
VAR_026608 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026609 commonName VAR_026609
VAR_026609 disease phenotype-associated
VAR_026609 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026610 commonName VAR_026610
VAR_026610 disease phenotype-associated
VAR_026610 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026611 commonName VAR_026611
VAR_026611 disease phenotype-associated
VAR_026611 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026612 commonName VAR_026612
VAR_026612 disease phenotype-associated
VAR_026612 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026613 commonName VAR_026613
VAR_026613 disease phenotype-associated
VAR_026613 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026614 commonName VAR_026614
VAR_026614 disease phenotype-associated
VAR_026614 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026615 commonName VAR_026615
VAR_026615 disease phenotype-associated
VAR_026615 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026616 commonName VAR_026616
VAR_026616 disease phenotype-associated
VAR_026616 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026617 commonName VAR_026617
VAR_026617 disease phenotype-associated
VAR_026617 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026620 commonName VAR_026620
VAR_026620 disease phenotype-associated
VAR_026620 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026621 commonName VAR_026621
VAR_026621 disease phenotype-associated
VAR_026621 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026622 commonName VAR_026622
VAR_026622 disease phenotype-associated
VAR_026622 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026623 commonName VAR_026623
VAR_026623 disease phenotype-associated
VAR_026623 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026624 commonName VAR_026624
VAR_026624 disease phenotype-associated
VAR_026624 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026625 commonName VAR_026625
VAR_026625 disease phenotype-associated
VAR_026625 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026626 commonName VAR_026626
VAR_026626 disease phenotype-associated
VAR_026626 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026627 commonName VAR_026627
VAR_026627 disease phenotype-associated
VAR_026627 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000]
VAR_026628 commonName VAR_026628
VAR_026628 disease not phenotype-associated
VAR_026630 comment Multiple cancers
VAR_026630 commonName VAR_026630
VAR_026631 commonName VAR_026631
VAR_026631 disease not phenotype-associated
VAR_026632 commonName VAR_026632
VAR_026632 disease not phenotype-associated
VAR_026633 commonName VAR_026633
VAR_026633 disease phenotype-associated
VAR_026633 phenoCommon Neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159]
VAR_026637 commonName VAR_026637
VAR_026637 disease not phenotype-associated
VAR_026639 commonName VAR_026639
VAR_026639 disease not phenotype-associated
VAR_026640 commonName VAR_026640
VAR_026640 disease not phenotype-associated
VAR_026641 commonName VAR_026641
VAR_026641 disease not phenotype-associated
VAR_026642 commonName VAR_026642
VAR_026642 disease not phenotype-associated
VAR_026643 commonName VAR_026643
VAR_026643 disease not phenotype-associated
VAR_026644 commonName VAR_026644
VAR_026644 disease not phenotype-associated
VAR_026645 commonName VAR_026645
VAR_026645 disease not phenotype-associated
VAR_026646 commonName VAR_026646
VAR_026646 disease not phenotype-associated
VAR_026647 commonName VAR_026647
VAR_026647 disease not phenotype-associated
VAR_026648 commonName VAR_026648
VAR_026648 disease phenotype-associated
VAR_026648 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313]
VAR_026650 commonName VAR_026650
VAR_026650 disease phenotype-associated
VAR_026650 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]
VAR_026651 commonName VAR_026651
VAR_026651 disease phenotype-associated
VAR_026651 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]
VAR_026652 commonName VAR_026652
VAR_026652 disease not phenotype-associated
VAR_026653 commonName VAR_026653
VAR_026653 disease not phenotype-associated
VAR_026654 commonName VAR_026654
VAR_026655 commonName VAR_026655
VAR_026655 disease not phenotype-associated
VAR_026656 commonName VAR_026656
VAR_026656 disease not phenotype-associated
VAR_026657 commonName VAR_026657
VAR_026657 disease not phenotype-associated
VAR_026661 commonName VAR_026661
VAR_026662 commonName VAR_026662
VAR_026663 commonName VAR_026663
VAR_026663 disease not phenotype-associated
VAR_026664 commonName VAR_026664
VAR_026664 disease not phenotype-associated
VAR_026665 commonName VAR_026665
VAR_026665 disease not phenotype-associated
VAR_026667 commonName VAR_026667
VAR_026667 disease not phenotype-associated
VAR_026668 commonName VAR_026668
VAR_026668 disease not phenotype-associated
VAR_026670 commonName VAR_026670
VAR_026670 disease not phenotype-associated
VAR_026673 commonName VAR_026673
VAR_026673 disease not phenotype-associated
VAR_026674 commonName VAR_026674
VAR_026674 disease not phenotype-associated
VAR_026675 commonName VAR_026675
VAR_026675 disease not phenotype-associated
VAR_026677 commonName VAR_026677
VAR_026677 disease not phenotype-associated
VAR_026678 commonName VAR_026678
VAR_026678 disease not phenotype-associated
VAR_026679 commonName VAR_026679
VAR_026679 disease not phenotype-associated
VAR_026680 commonName VAR_026680
VAR_026680 disease not phenotype-associated
VAR_026681 commonName VAR_026681
VAR_026681 disease phenotype-associated
VAR_026681 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]
VAR_026683 commonName VAR_026683
VAR_026683 disease not phenotype-associated
VAR_026684 commonName VAR_026684
VAR_026684 disease phenotype-associated
VAR_026684 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]
VAR_026696 commonName VAR_026696
VAR_026697 commonName VAR_026697
VAR_026697 disease phenotype-associated
VAR_026697 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_026697 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]
VAR_026698 commonName VAR_026698
VAR_026698 disease not phenotype-associated
VAR_026699 commonName VAR_026699
VAR_026699 disease not phenotype-associated
VAR_026700 commonName VAR_026700
VAR_026700 disease not phenotype-associated
VAR_026701 commonName VAR_026701
VAR_026701 disease not phenotype-associated
VAR_026702 commonName VAR_026702
VAR_026702 disease not phenotype-associated
VAR_026703 commonName VAR_026703
VAR_026703 disease not phenotype-associated
VAR_026705 commonName VAR_026705
VAR_026705 disease not phenotype-associated
VAR_026706 commonName VAR_026706
VAR_026706 disease phenotype-associated
VAR_026706 phenoCommon Congenital lactase deficiency (COLACD) [MIM:223000]
VAR_026707 commonName VAR_026707
VAR_026707 disease not phenotype-associated
VAR_026708 commonName VAR_026708
VAR_026708 disease phenotype-associated
VAR_026708 phenoCommon Congenital lactase deficiency (COLACD) [MIM:223000]
VAR_026709 commonName VAR_026709
VAR_026709 disease not phenotype-associated
VAR_026710 commonName VAR_026710
VAR_026710 disease not phenotype-associated
VAR_026711 commonName VAR_026711
VAR_026711 disease phenotype-associated
VAR_026711 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_026712 commonName VAR_026712
VAR_026712 disease phenotype-associated
VAR_026712 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_026713 commonName VAR_026713
VAR_026713 disease phenotype-associated
VAR_026713 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_026715 commonName VAR_026715
VAR_026715 disease not phenotype-associated
VAR_026716 commonName VAR_026716
VAR_026716 disease not phenotype-associated
VAR_026718 commonName VAR_026718
VAR_026718 disease not phenotype-associated
VAR_026719 commonName VAR_026719
VAR_026719 disease not phenotype-associated
VAR_026720 commonName VAR_026720
VAR_026720 disease not phenotype-associated
VAR_026721 commonName VAR_026721
VAR_026721 disease not phenotype-associated
VAR_026722 commonName VAR_026722
VAR_026722 disease not phenotype-associated
VAR_026723 commonName VAR_026723
VAR_026723 disease not phenotype-associated
VAR_026725 commonName VAR_026725
VAR_026725 disease not phenotype-associated
VAR_026726 commonName VAR_026726
VAR_026726 disease not phenotype-associated
VAR_026727 commonName VAR_026727
VAR_026727 disease not phenotype-associated
VAR_026728 commonName VAR_026728
VAR_026728 disease not phenotype-associated
VAR_026729 commonName VAR_026729
VAR_026729 disease not phenotype-associated
VAR_026730 commonName VAR_026730
VAR_026730 disease phenotype-associated
VAR_026730 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_026731 commonName VAR_026731
VAR_026731 disease phenotype-associated
VAR_026731 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_026732 commonName VAR_026732
VAR_026732 disease phenotype-associated
VAR_026732 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_026733 commonName VAR_026733
VAR_026733 disease phenotype-associated
VAR_026733 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_026734 commonName VAR_026734
VAR_026734 disease phenotype-associated
VAR_026734 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_026735 commonName VAR_026735
VAR_026735 disease phenotype-associated
VAR_026735 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026736 commonName VAR_026736
VAR_026736 disease phenotype-associated
VAR_026736 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026737 commonName VAR_026737
VAR_026737 disease phenotype-associated
VAR_026737 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026738 commonName VAR_026738
VAR_026738 disease phenotype-associated
VAR_026738 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026739 commonName VAR_026739
VAR_026739 disease phenotype-associated
VAR_026739 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026740 commonName VAR_026740
VAR_026740 disease phenotype-associated
VAR_026740 phenoCommon Dystonia type 12 (DYT12) [MIM:128235]
VAR_026741 commonName VAR_026741
VAR_026741 disease phenotype-associated
VAR_026741 phenoCommon Timothy syndrome (TS) [MIM:601005]
VAR_026742 commonName VAR_026742
VAR_026742 disease phenotype-associated
VAR_026742 phenoCommon Timothy syndrome (TS) [MIM:601005]
VAR_026743 commonName VAR_026743
VAR_026743 disease phenotype-associated
VAR_026743 phenoCommon Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]
VAR_026743 phenoCommon Spinal muscular atrophy proximal adult autosomal dominant (SMAPAD) [MIM:182980]
VAR_026744 commonName VAR_026744
VAR_026744 disease phenotype-associated
VAR_026744 phenoCommon Left ventricular non-compaction type 1 (LVNC1) [MIM:604169]
VAR_026745 commonName VAR_026745
VAR_026745 disease phenotype-associated
VAR_026745 phenoCommon Small patella syndrome (SPS) [MIM:147891]
VAR_026746 commonName VAR_026746
VAR_026746 disease phenotype-associated
VAR_026746 phenoCommon Small patella syndrome (SPS) [MIM:147891]
VAR_026748 commonName VAR_026748
VAR_026748 disease phenotype-associated
VAR_026748 phenoCommon Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]
VAR_026750 commonName VAR_026750
VAR_026750 disease phenotype-associated
VAR_026750 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_026751 commonName VAR_026751
VAR_026751 disease not phenotype-associated
VAR_026752 commonName VAR_026752
VAR_026752 disease phenotype-associated
VAR_026752 phenoCommon Beta-ureidopropionase deficiency (BUPD) [MIM:613161]
VAR_026753 commonName VAR_026753
VAR_026753 disease phenotype-associated
VAR_026753 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]
VAR_026754 commonName VAR_026754
VAR_026754 disease phenotype-associated
VAR_026754 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]
VAR_026758 commonName VAR_026758
VAR_026758 disease phenotype-associated
VAR_026758 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026759 commonName VAR_026759
VAR_026759 disease phenotype-associated
VAR_026759 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026760 commonName VAR_026760
VAR_026760 disease phenotype-associated
VAR_026760 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026761 commonName VAR_026761
VAR_026761 disease phenotype-associated
VAR_026761 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026762 commonName VAR_026762
VAR_026762 disease phenotype-associated
VAR_026762 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026763 commonName VAR_026763
VAR_026763 disease phenotype-associated
VAR_026763 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_026764 commonName VAR_026764
VAR_026764 disease not phenotype-associated
VAR_026765 commonName VAR_026765
VAR_026765 disease not phenotype-associated
VAR_026766 commonName VAR_026766
VAR_026766 disease not phenotype-associated
VAR_026767 commonName VAR_026767
VAR_026767 disease phenotype-associated
VAR_026767 phenoCommon Spinocerebellar ataxia type 5 (SCA5) [MIM:600224]
VAR_026770 commonName VAR_026770
VAR_026770 disease not phenotype-associated
VAR_026771 commonName VAR_026771
VAR_026771 disease not phenotype-associated
VAR_026772 commonName VAR_026772
VAR_026772 disease not phenotype-associated
VAR_026773 commonName VAR_026773
VAR_026773 disease not phenotype-associated
VAR_026774 commonName VAR_026774
VAR_026774 disease phenotype-associated
VAR_026774 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_026775 commonName VAR_026775
VAR_026775 disease phenotype-associated
VAR_026775 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_026776 commonName VAR_026776
VAR_026776 disease phenotype-associated
VAR_026776 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_026780 commonName VAR_026780
VAR_026780 disease phenotype-associated
VAR_026780 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_026781 commonName VAR_026781
VAR_026781 disease phenotype-associated
VAR_026781 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_026785 commonName VAR_026785
VAR_026785 disease phenotype-associated
VAR_026785 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026786 commonName VAR_026786
VAR_026786 disease phenotype-associated
VAR_026786 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026787 commonName VAR_026787
VAR_026787 disease phenotype-associated
VAR_026787 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026788 commonName VAR_026788
VAR_026788 disease phenotype-associated
VAR_026788 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026789 commonName VAR_026789
VAR_026789 disease phenotype-associated
VAR_026789 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026790 commonName VAR_026790
VAR_026790 disease phenotype-associated
VAR_026790 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026791 commonName VAR_026791
VAR_026791 disease phenotype-associated
VAR_026791 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026794 commonName VAR_026794
VAR_026794 disease phenotype-associated
VAR_026794 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026795 commonName VAR_026795
VAR_026795 disease phenotype-associated
VAR_026795 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026796 commonName VAR_026796
VAR_026796 disease phenotype-associated
VAR_026796 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026797 commonName VAR_026797
VAR_026797 disease phenotype-associated
VAR_026797 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026798 commonName VAR_026798
VAR_026798 disease phenotype-associated
VAR_026798 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026799 commonName VAR_026799
VAR_026799 disease phenotype-associated
VAR_026799 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026800 commonName VAR_026800
VAR_026800 disease phenotype-associated
VAR_026800 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026801 commonName VAR_026801
VAR_026801 disease phenotype-associated
VAR_026801 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026802 commonName VAR_026802
VAR_026802 disease phenotype-associated
VAR_026802 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026803 commonName VAR_026803
VAR_026803 disease phenotype-associated
VAR_026803 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026804 commonName VAR_026804
VAR_026804 disease phenotype-associated
VAR_026804 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026805 commonName VAR_026805
VAR_026805 disease phenotype-associated
VAR_026805 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026806 commonName VAR_026806
VAR_026806 disease phenotype-associated
VAR_026806 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026807 commonName VAR_026807
VAR_026807 disease phenotype-associated
VAR_026807 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026808 commonName VAR_026808
VAR_026808 disease phenotype-associated
VAR_026808 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026809 commonName VAR_026809
VAR_026809 disease phenotype-associated
VAR_026809 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026810 commonName VAR_026810
VAR_026810 disease phenotype-associated
VAR_026810 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026811 commonName VAR_026811
VAR_026811 disease phenotype-associated
VAR_026811 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026813 commonName VAR_026813
VAR_026813 disease phenotype-associated
VAR_026813 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026814 commonName VAR_026814
VAR_026814 disease phenotype-associated
VAR_026814 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026815 commonName VAR_026815
VAR_026815 disease phenotype-associated
VAR_026815 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026816 commonName VAR_026816
VAR_026816 disease phenotype-associated
VAR_026816 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
VAR_026819 commonName VAR_026819
VAR_026819 disease not phenotype-associated
VAR_026820 commonName VAR_026820
VAR_026820 disease not phenotype-associated
VAR_026821 commonName VAR_026821
VAR_026821 disease not phenotype-associated
VAR_026822 commonName VAR_026822
VAR_026822 disease not phenotype-associated
VAR_026823 commonName VAR_026823
VAR_026823 disease not phenotype-associated
VAR_026824 commonName VAR_026824
VAR_026824 disease not phenotype-associated
VAR_026825 commonName VAR_026825
VAR_026825 disease not phenotype-associated
VAR_026826 commonName VAR_026826
VAR_026827 commonName VAR_026827
VAR_026827 disease not phenotype-associated
VAR_026828 commonName VAR_026828
VAR_026828 disease phenotype-associated
VAR_026828 phenoCommon Albinism oculocutaneous type 3 (OCA3) [MIM:203290]
VAR_026829 commonName VAR_026829
VAR_026829 disease not phenotype-associated
VAR_026830 commonName VAR_026830
VAR_026830 disease not phenotype-associated
VAR_026831 commonName VAR_026831
VAR_026831 disease not phenotype-associated
VAR_026833 commonName VAR_026833
VAR_026833 disease not phenotype-associated
VAR_026834 commonName VAR_026834
VAR_026834 disease not phenotype-associated
VAR_026835 commonName VAR_026835
VAR_026835 disease not phenotype-associated
VAR_026836 commonName VAR_026836
VAR_026836 disease not phenotype-associated
VAR_026837 commonName VAR_026837
VAR_026837 disease not phenotype-associated
VAR_026838 commonName VAR_026838
VAR_026838 disease not phenotype-associated
VAR_026839 commonName VAR_026839
VAR_026839 disease not phenotype-associated
VAR_026840 commonName VAR_026840
VAR_026840 disease not phenotype-associated
VAR_026841 commonName VAR_026841
VAR_026841 disease not phenotype-associated
VAR_026842 commonName VAR_026842
VAR_026842 disease not phenotype-associated
VAR_026843 commonName VAR_026843
VAR_026843 disease not phenotype-associated
VAR_026844 commonName VAR_026844
VAR_026844 disease not phenotype-associated
VAR_026845 commonName VAR_026845
VAR_026845 disease not phenotype-associated
VAR_026846 commonName VAR_026846
VAR_026846 disease not phenotype-associated
VAR_026847 commonName VAR_026847
VAR_026847 disease not phenotype-associated
VAR_026848 commonName VAR_026848
VAR_026848 disease not phenotype-associated
VAR_026849 commonName VAR_026849
VAR_026849 disease not phenotype-associated
VAR_026850 commonName VAR_026850
VAR_026850 disease not phenotype-associated
VAR_026851 commonName VAR_026851
VAR_026851 disease not phenotype-associated
VAR_026852 commonName VAR_026852
VAR_026852 disease not phenotype-associated
VAR_026853 commonName VAR_026853
VAR_026853 disease not phenotype-associated
VAR_026854 commonName VAR_026854
VAR_026854 disease not phenotype-associated
VAR_026855 commonName VAR_026855
VAR_026855 disease not phenotype-associated
VAR_026856 commonName VAR_026856
VAR_026856 disease not phenotype-associated
VAR_026857 commonName VAR_026857
VAR_026857 disease not phenotype-associated
VAR_026858 commonName VAR_026858
VAR_026858 disease not phenotype-associated
VAR_026859 commonName VAR_026859
VAR_026859 disease not phenotype-associated
VAR_026860 commonName VAR_026860
VAR_026860 disease not phenotype-associated
VAR_026861 commonName VAR_026861
VAR_026861 disease not phenotype-associated
VAR_026862 commonName VAR_026862
VAR_026862 disease not phenotype-associated
VAR_026863 commonName VAR_026863
VAR_026863 disease not phenotype-associated
VAR_026864 commonName VAR_026864
VAR_026864 disease not phenotype-associated
VAR_026865 commonName VAR_026865
VAR_026865 disease not phenotype-associated
VAR_026866 commonName VAR_026866
VAR_026866 disease not phenotype-associated
VAR_026867 commonName VAR_026867
VAR_026867 disease not phenotype-associated
VAR_026868 commonName VAR_026868
VAR_026868 disease not phenotype-associated
VAR_026869 commonName VAR_026869
VAR_026869 disease not phenotype-associated
VAR_026870 commonName VAR_026870
VAR_026870 disease not phenotype-associated
VAR_026871 commonName VAR_026871
VAR_026871 disease not phenotype-associated
VAR_026872 commonName VAR_026872
VAR_026872 disease not phenotype-associated
VAR_026873 commonName VAR_026873
VAR_026873 disease not phenotype-associated
VAR_026874 commonName VAR_026874
VAR_026874 disease not phenotype-associated
VAR_026875 commonName VAR_026875
VAR_026875 disease not phenotype-associated
VAR_026877 commonName VAR_026877
VAR_026877 disease not phenotype-associated
VAR_026878 commonName VAR_026878
VAR_026878 disease not phenotype-associated
VAR_026879 commonName VAR_026879
VAR_026879 disease not phenotype-associated
VAR_026882 commonName VAR_026882
VAR_026882 disease not phenotype-associated
VAR_026883 commonName VAR_026883
VAR_026883 disease not phenotype-associated
VAR_026888 commonName VAR_026888
VAR_026888 disease not phenotype-associated
VAR_026890 commonName VAR_026890
VAR_026890 disease not phenotype-associated
VAR_026891 commonName VAR_026891
VAR_026891 disease not phenotype-associated
VAR_026892 commonName VAR_026892
VAR_026892 disease not phenotype-associated
VAR_026893 commonName VAR_026893
VAR_026893 disease not phenotype-associated
VAR_026894 commonName VAR_026894
VAR_026894 disease not phenotype-associated
VAR_026895 commonName VAR_026895
VAR_026895 disease not phenotype-associated
VAR_026896 commonName VAR_026896
VAR_026896 disease not phenotype-associated
VAR_026897 commonName VAR_026897
VAR_026897 disease not phenotype-associated
VAR_026898 commonName VAR_026898
VAR_026898 disease not phenotype-associated
VAR_026899 commonName VAR_026899
VAR_026899 disease not phenotype-associated
VAR_026900 commonName VAR_026900
VAR_026900 disease not phenotype-associated
VAR_026901 commonName VAR_026901
VAR_026901 disease not phenotype-associated
VAR_026902 commonName VAR_026902
VAR_026902 disease not phenotype-associated
VAR_026903 commonName VAR_026903
VAR_026903 disease not phenotype-associated
VAR_026904 commonName VAR_026904
VAR_026904 disease not phenotype-associated
VAR_026905 commonName VAR_026905
VAR_026905 disease not phenotype-associated
VAR_026906 commonName VAR_026906
VAR_026906 disease not phenotype-associated
VAR_026907 commonName VAR_026907
VAR_026907 disease not phenotype-associated
VAR_026912 commonName VAR_026912
VAR_026912 disease not phenotype-associated
VAR_026913 commonName VAR_026913
VAR_026913 disease not phenotype-associated
VAR_026915 commonName VAR_026915
VAR_026915 disease phenotype-associated
VAR_026915 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026916 commonName VAR_026916
VAR_026916 disease phenotype-associated
VAR_026916 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026917 commonName VAR_026917
VAR_026917 disease phenotype-associated
VAR_026917 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026918 commonName VAR_026918
VAR_026918 disease phenotype-associated
VAR_026918 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026919 commonName VAR_026919
VAR_026919 disease phenotype-associated
VAR_026919 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026920 commonName VAR_026920
VAR_026920 disease phenotype-associated
VAR_026920 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026921 commonName VAR_026921
VAR_026921 disease phenotype-associated
VAR_026921 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026922 commonName VAR_026922
VAR_026922 disease phenotype-associated
VAR_026922 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026923 commonName VAR_026923
VAR_026923 disease phenotype-associated
VAR_026923 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026924 commonName VAR_026924
VAR_026924 disease phenotype-associated
VAR_026924 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026926 commonName VAR_026926
VAR_026926 disease phenotype-associated
VAR_026926 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026928 commonName VAR_026928
VAR_026928 disease phenotype-associated
VAR_026928 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026929 commonName VAR_026929
VAR_026929 disease phenotype-associated
VAR_026929 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026930 commonName VAR_026930
VAR_026930 disease phenotype-associated
VAR_026930 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026931 commonName VAR_026931
VAR_026931 disease phenotype-associated
VAR_026931 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026932 commonName VAR_026932
VAR_026932 disease phenotype-associated
VAR_026932 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026933 commonName VAR_026933
VAR_026933 disease phenotype-associated
VAR_026933 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026934 commonName VAR_026934
VAR_026934 disease phenotype-associated
VAR_026934 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026935 commonName VAR_026935
VAR_026935 disease phenotype-associated
VAR_026935 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026936 commonName VAR_026936
VAR_026936 disease phenotype-associated
VAR_026936 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026937 commonName VAR_026937
VAR_026937 disease phenotype-associated
VAR_026937 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026938 commonName VAR_026938
VAR_026938 disease phenotype-associated
VAR_026938 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026939 commonName VAR_026939
VAR_026939 disease phenotype-associated
VAR_026939 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026940 commonName VAR_026940
VAR_026940 disease phenotype-associated
VAR_026940 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026941 commonName VAR_026941
VAR_026941 disease phenotype-associated
VAR_026941 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026942 commonName VAR_026942
VAR_026942 disease phenotype-associated
VAR_026942 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026943 commonName VAR_026943
VAR_026943 disease phenotype-associated
VAR_026943 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026944 commonName VAR_026944
VAR_026944 disease phenotype-associated
VAR_026944 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026945 commonName VAR_026945
VAR_026945 disease phenotype-associated
VAR_026945 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026946 commonName VAR_026946
VAR_026947 commonName VAR_026947
VAR_026947 disease phenotype-associated
VAR_026947 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026948 commonName VAR_026948
VAR_026948 disease phenotype-associated
VAR_026948 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026949 commonName VAR_026949
VAR_026949 disease phenotype-associated
VAR_026949 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026950 commonName VAR_026950
VAR_026950 disease phenotype-associated
VAR_026950 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026951 commonName VAR_026951
VAR_026951 disease phenotype-associated
VAR_026951 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026952 commonName VAR_026952
VAR_026952 disease phenotype-associated
VAR_026952 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
VAR_026963 commonName VAR_026963
VAR_026963 disease not phenotype-associated
VAR_026964 commonName VAR_026964
VAR_026964 disease not phenotype-associated
VAR_026965 commonName VAR_026965
VAR_026965 disease not phenotype-associated
VAR_026966 commonName VAR_026966
VAR_026966 disease not phenotype-associated
VAR_026967 commonName VAR_026967
VAR_026967 disease not phenotype-associated
VAR_026968 commonName VAR_026968
VAR_026968 disease not phenotype-associated
VAR_026969 commonName VAR_026969
VAR_026970 commonName VAR_026970
VAR_026970 disease not phenotype-associated
VAR_026971 commonName VAR_026971
VAR_026971 disease not phenotype-associated
VAR_026972 commonName VAR_026972
VAR_026972 disease not phenotype-associated
VAR_026973 commonName VAR_026973
VAR_026973 disease not phenotype-associated
VAR_026974 commonName VAR_026974
VAR_026975 commonName VAR_026975
VAR_026976 commonName VAR_026976
VAR_026977 commonName VAR_026977
VAR_026977 disease not phenotype-associated
VAR_026978 commonName VAR_026978
VAR_026978 disease not phenotype-associated
VAR_026979 commonName VAR_026979
VAR_026979 disease not phenotype-associated
VAR_026982 commonName VAR_026982
VAR_026982 disease not phenotype-associated
VAR_026983 commonName VAR_026983
VAR_026983 disease not phenotype-associated
VAR_026984 commonName VAR_026984
VAR_026984 disease not phenotype-associated
VAR_026985 commonName VAR_026985
VAR_026985 disease not phenotype-associated
VAR_026986 commonName VAR_026986
VAR_026986 disease not phenotype-associated
VAR_026987 commonName VAR_026987
VAR_026987 disease phenotype-associated
VAR_026987 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026988 commonName VAR_026988
VAR_026988 disease phenotype-associated
VAR_026988 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026989 commonName VAR_026989
VAR_026989 disease phenotype-associated
VAR_026989 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026990 commonName VAR_026990
VAR_026990 disease phenotype-associated
VAR_026990 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026991 commonName VAR_026991
VAR_026991 disease phenotype-associated
VAR_026991 phenoCommon Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720]
VAR_026992 commonName VAR_026992
VAR_026992 disease phenotype-associated
VAR_026992 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026993 commonName VAR_026993
VAR_026993 disease phenotype-associated
VAR_026993 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]
VAR_026993 phenoCommon Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720]
VAR_026994 commonName VAR_026994
VAR_026994 disease phenotype-associated
VAR_026994 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201]
VAR_026995 commonName VAR_026995
VAR_026996 commonName VAR_026996
VAR_026996 disease not phenotype-associated
VAR_026997 commonName VAR_026997
VAR_026997 disease not phenotype-associated
VAR_026998 commonName VAR_026998
VAR_026998 disease not phenotype-associated
VAR_026999 commonName VAR_026999
VAR_026999 disease not phenotype-associated
VAR_027000 commonName VAR_027000
VAR_027000 disease not phenotype-associated
VAR_027001 commonName VAR_027001
VAR_027001 disease not phenotype-associated
VAR_027002 commonName VAR_027002
VAR_027002 disease not phenotype-associated
VAR_027003 commonName VAR_027003
VAR_027003 disease not phenotype-associated
VAR_027005 commonName VAR_027005
VAR_027005 disease not phenotype-associated
VAR_027006 commonName VAR_027006
VAR_027006 disease not phenotype-associated
VAR_027007 commonName VAR_027007
VAR_027007 disease not phenotype-associated
VAR_027008 commonName VAR_027008
VAR_027008 disease not phenotype-associated
VAR_027009 commonName VAR_027009
VAR_027009 disease not phenotype-associated
VAR_027010 commonName VAR_027010
VAR_027010 disease not phenotype-associated
VAR_027011 commonName VAR_027011
VAR_027011 disease not phenotype-associated
VAR_027013 commonName VAR_027013
VAR_027013 disease not phenotype-associated
VAR_027014 commonName VAR_027014
VAR_027014 disease not phenotype-associated
VAR_027017 commonName VAR_027017
VAR_027017 disease phenotype-associated
VAR_027017 phenoCommon Mowat-Wilson syndrome (MWIS) [MIM:235730]
VAR_027019 commonName VAR_027019
VAR_027019 disease phenotype-associated
VAR_027019 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437]
VAR_027020 commonName VAR_027020
VAR_027020 disease not phenotype-associated
VAR_027021 commonName VAR_027021
VAR_027021 disease phenotype-associated
VAR_027021 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]
VAR_027022 commonName VAR_027022
VAR_027022 disease not phenotype-associated
VAR_027023 commonName VAR_027023
VAR_027023 disease not phenotype-associated
VAR_027024 commonName VAR_027024
VAR_027024 disease not phenotype-associated
VAR_027026 commonName VAR_027026
VAR_027026 disease not phenotype-associated
VAR_027027 commonName VAR_027027
VAR_027027 disease not phenotype-associated
VAR_027028 commonName VAR_027028
VAR_027028 disease not phenotype-associated
VAR_027029 commonName VAR_027029
VAR_027029 disease not phenotype-associated
VAR_027032 commonName VAR_027032
VAR_027032 disease not phenotype-associated
VAR_027033 commonName VAR_027033
VAR_027033 disease not phenotype-associated
VAR_027034 commonName VAR_027034
VAR_027034 disease not phenotype-associated
VAR_027035 commonName VAR_027035
VAR_027035 disease not phenotype-associated
VAR_027036 commonName VAR_027036
VAR_027036 disease not phenotype-associated
VAR_027039 commonName VAR_027039
VAR_027039 disease not phenotype-associated
VAR_027040 commonName VAR_027040
VAR_027040 disease not phenotype-associated
VAR_027041 commonName VAR_027041
VAR_027041 disease not phenotype-associated
VAR_027042 commonName VAR_027042
VAR_027042 disease not phenotype-associated
VAR_027043 commonName VAR_027043
VAR_027043 disease not phenotype-associated
VAR_027044 commonName VAR_027044
VAR_027044 disease not phenotype-associated
VAR_027045 commonName VAR_027045
VAR_027045 disease not phenotype-associated
VAR_027046 commonName VAR_027046
VAR_027046 disease not phenotype-associated
VAR_027047 commonName VAR_027047
VAR_027047 disease not phenotype-associated
VAR_027048 commonName VAR_027048
VAR_027048 disease not phenotype-associated
VAR_027049 commonName VAR_027049
VAR_027049 disease not phenotype-associated
VAR_027050 commonName VAR_027050
VAR_027050 disease not phenotype-associated
VAR_027051 commonName VAR_027051
VAR_027051 disease not phenotype-associated
VAR_027052 commonName VAR_027052
VAR_027052 disease not phenotype-associated
VAR_027058 commonName VAR_027058
VAR_027058 disease not phenotype-associated
VAR_027059 commonName VAR_027059
VAR_027059 disease not phenotype-associated
VAR_027060 commonName VAR_027060
VAR_027060 disease not phenotype-associated
VAR_027061 commonName VAR_027061
VAR_027061 disease not phenotype-associated
VAR_027062 commonName VAR_027062
VAR_027062 disease not phenotype-associated
VAR_027063 commonName VAR_027063
VAR_027063 disease not phenotype-associated
VAR_027064 commonName VAR_027064
VAR_027064 disease not phenotype-associated
VAR_027065 commonName VAR_027065
VAR_027065 disease not phenotype-associated
VAR_027066 commonName VAR_027066
VAR_027066 disease not phenotype-associated
VAR_027067 commonName VAR_027067
VAR_027067 disease not phenotype-associated
VAR_027068 commonName VAR_027068
VAR_027068 disease not phenotype-associated
VAR_027069 commonName VAR_027069
VAR_027069 disease not phenotype-associated
VAR_027070 commonName VAR_027070
VAR_027070 disease not phenotype-associated
VAR_027071 commonName VAR_027071
VAR_027071 disease not phenotype-associated
VAR_027072 commonName VAR_027072
VAR_027072 disease not phenotype-associated
VAR_027073 commonName VAR_027073
VAR_027073 disease not phenotype-associated
VAR_027077 commonName VAR_027077
VAR_027077 disease not phenotype-associated
VAR_027078 commonName VAR_027078
VAR_027078 disease not phenotype-associated
VAR_027079 commonName VAR_027079
VAR_027079 disease not phenotype-associated
VAR_027080 commonName VAR_027080
VAR_027080 disease not phenotype-associated
VAR_027081 commonName VAR_027081
VAR_027081 disease not phenotype-associated
VAR_027082 commonName VAR_027082
VAR_027082 disease not phenotype-associated
VAR_027083 commonName VAR_027083
VAR_027083 disease not phenotype-associated
VAR_027084 commonName VAR_027084
VAR_027084 disease not phenotype-associated
VAR_027085 commonName VAR_027085
VAR_027085 disease not phenotype-associated
VAR_027086 commonName VAR_027086
VAR_027086 disease not phenotype-associated
VAR_027087 commonName VAR_027087
VAR_027087 disease not phenotype-associated
VAR_027088 commonName VAR_027088
VAR_027088 disease not phenotype-associated
VAR_027089 commonName VAR_027089
VAR_027089 disease not phenotype-associated
VAR_027090 commonName VAR_027090
VAR_027090 disease not phenotype-associated
VAR_027091 commonName VAR_027091
VAR_027091 disease not phenotype-associated
VAR_027092 commonName VAR_027092
VAR_027092 disease not phenotype-associated
VAR_027093 commonName VAR_027093
VAR_027093 disease not phenotype-associated
VAR_027095 commonName VAR_027095
VAR_027095 disease not phenotype-associated
VAR_027096 commonName VAR_027096
VAR_027096 disease not phenotype-associated
VAR_027099 commonName VAR_027099
VAR_027099 disease not phenotype-associated
VAR_027101 commonName VAR_027101
VAR_027101 disease not phenotype-associated
VAR_027102 commonName VAR_027102
VAR_027102 disease not phenotype-associated
VAR_027103 commonName VAR_027103
VAR_027103 disease not phenotype-associated
VAR_027104 commonName VAR_027104
VAR_027104 disease not phenotype-associated
VAR_027105 commonName VAR_027105
VAR_027105 disease not phenotype-associated
VAR_027106 commonName VAR_027106
VAR_027106 disease not phenotype-associated
VAR_027109 commonName VAR_027109
VAR_027109 disease not phenotype-associated
VAR_027110 commonName VAR_027110
VAR_027110 disease phenotype-associated
VAR_027110 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027111 commonName VAR_027111
VAR_027111 disease phenotype-associated
VAR_027111 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027112 commonName VAR_027112
VAR_027112 disease phenotype-associated
VAR_027112 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027113 commonName VAR_027113
VAR_027113 disease phenotype-associated
VAR_027113 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027114 commonName VAR_027114
VAR_027114 disease phenotype-associated
VAR_027114 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027115 commonName VAR_027115
VAR_027115 disease phenotype-associated
VAR_027115 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027116 commonName VAR_027116
VAR_027116 disease phenotype-associated
VAR_027116 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027117 commonName VAR_027117
VAR_027117 disease phenotype-associated
VAR_027117 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027118 commonName VAR_027118
VAR_027118 disease phenotype-associated
VAR_027118 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027119 commonName VAR_027119
VAR_027119 disease phenotype-associated
VAR_027119 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027120 commonName VAR_027120
VAR_027120 disease not phenotype-associated
VAR_027121 commonName VAR_027121
VAR_027121 disease not phenotype-associated
VAR_027122 commonName VAR_027122
VAR_027122 disease phenotype-associated
VAR_027122 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027123 commonName VAR_027123
VAR_027123 disease phenotype-associated
VAR_027123 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027124 commonName VAR_027124
VAR_027124 disease not phenotype-associated
VAR_027125 commonName VAR_027125
VAR_027125 disease not phenotype-associated
VAR_027126 commonName VAR_027126
VAR_027126 disease phenotype-associated
VAR_027126 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027127 commonName VAR_027127
VAR_027127 disease phenotype-associated
VAR_027127 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027128 commonName VAR_027128
VAR_027128 disease not phenotype-associated
VAR_027129 commonName VAR_027129
VAR_027129 disease not phenotype-associated
VAR_027130 commonName VAR_027130
VAR_027130 disease not phenotype-associated
VAR_027131 commonName VAR_027131
VAR_027131 disease phenotype-associated
VAR_027131 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027132 commonName VAR_027132
VAR_027132 disease phenotype-associated
VAR_027132 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027133 commonName VAR_027133
VAR_027133 disease phenotype-associated
VAR_027133 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_027134 commonName VAR_027134
VAR_027134 disease not phenotype-associated
VAR_027135 commonName VAR_027135
VAR_027140 commonName VAR_027140
VAR_027140 disease not phenotype-associated
VAR_027141 commonName VAR_027141
VAR_027141 disease not phenotype-associated
VAR_027142 commonName VAR_027142
VAR_027142 disease not phenotype-associated
VAR_027143 commonName VAR_027143
VAR_027143 disease not phenotype-associated
VAR_027144 commonName VAR_027144
VAR_027144 disease not phenotype-associated
VAR_027145 commonName VAR_027145
VAR_027145 disease not phenotype-associated
VAR_027146 commonName VAR_027146
VAR_027146 disease not phenotype-associated
VAR_027147 commonName VAR_027147
VAR_027147 disease not phenotype-associated
VAR_027149 commonName VAR_027149
VAR_027149 disease not phenotype-associated
VAR_027150 commonName VAR_027150
VAR_027150 disease not phenotype-associated
VAR_027151 commonName VAR_027151
VAR_027151 disease not phenotype-associated
VAR_027152 commonName VAR_027152
VAR_027152 disease not phenotype-associated
VAR_027153 commonName VAR_027153
VAR_027153 disease not phenotype-associated
VAR_027154 commonName VAR_027154
VAR_027154 disease not phenotype-associated
VAR_027155 commonName VAR_027155
VAR_027155 disease not phenotype-associated
VAR_027156 commonName VAR_027156
VAR_027156 disease not phenotype-associated
VAR_027157 commonName VAR_027157
VAR_027157 disease not phenotype-associated
VAR_027158 commonName VAR_027158
VAR_027158 disease not phenotype-associated
VAR_027159 commonName VAR_027159
VAR_027159 disease not phenotype-associated
VAR_027160 commonName VAR_027160
VAR_027160 disease not phenotype-associated
VAR_027161 commonName VAR_027161
VAR_027161 disease not phenotype-associated
VAR_027162 commonName VAR_027162
VAR_027162 disease not phenotype-associated
VAR_027163 commonName VAR_027163
VAR_027163 disease not phenotype-associated
VAR_027164 commonName VAR_027164
VAR_027164 disease not phenotype-associated
VAR_027165 commonName VAR_027165
VAR_027165 disease not phenotype-associated
VAR_027167 commonName VAR_027167
VAR_027167 disease not phenotype-associated
VAR_027168 commonName VAR_027168
VAR_027168 disease not phenotype-associated
VAR_027169 commonName VAR_027169
VAR_027169 disease not phenotype-associated
VAR_027170 commonName VAR_027170
VAR_027170 disease not phenotype-associated
VAR_027171 commonName VAR_027171
VAR_027171 disease not phenotype-associated
VAR_027172 commonName VAR_027172
VAR_027172 disease not phenotype-associated
VAR_027173 commonName VAR_027173
VAR_027173 disease not phenotype-associated
VAR_027174 commonName VAR_027174
VAR_027174 disease not phenotype-associated
VAR_027175 commonName VAR_027175
VAR_027175 disease not phenotype-associated
VAR_027176 commonName VAR_027176
VAR_027176 disease not phenotype-associated
VAR_027177 commonName VAR_027177
VAR_027177 disease not phenotype-associated
VAR_027178 commonName VAR_027178
VAR_027178 disease not phenotype-associated
VAR_027179 commonName VAR_027179
VAR_027179 disease not phenotype-associated
VAR_027180 commonName VAR_027180
VAR_027180 disease not phenotype-associated
VAR_027181 commonName VAR_027181
VAR_027181 disease not phenotype-associated
VAR_027182 commonName VAR_027182
VAR_027182 disease not phenotype-associated
VAR_027198 commonName VAR_027198
VAR_027198 disease not phenotype-associated
VAR_027199 commonName VAR_027199
VAR_027199 disease not phenotype-associated
VAR_027200 commonName VAR_027200
VAR_027200 disease not phenotype-associated
VAR_027201 commonName VAR_027201
VAR_027201 disease not phenotype-associated
VAR_027202 commonName VAR_027202
VAR_027202 disease not phenotype-associated
VAR_027203 commonName VAR_027203
VAR_027203 disease not phenotype-associated
VAR_027204 commonName VAR_027204
VAR_027204 disease not phenotype-associated
VAR_027205 commonName VAR_027205
VAR_027205 disease not phenotype-associated
VAR_027206 commonName VAR_027206
VAR_027206 disease phenotype-associated
VAR_027206 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027207 commonName VAR_027207
VAR_027207 disease phenotype-associated
VAR_027207 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027208 commonName VAR_027208
VAR_027208 disease phenotype-associated
VAR_027208 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027209 commonName VAR_027209
VAR_027209 disease phenotype-associated
VAR_027209 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027210 commonName VAR_027210
VAR_027210 disease phenotype-associated
VAR_027210 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027211 commonName VAR_027211
VAR_027211 disease phenotype-associated
VAR_027211 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027212 commonName VAR_027212
VAR_027212 disease phenotype-associated
VAR_027212 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027213 commonName VAR_027213
VAR_027213 disease phenotype-associated
VAR_027213 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027214 commonName VAR_027214
VAR_027214 disease phenotype-associated
VAR_027214 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027215 commonName VAR_027215
VAR_027215 disease phenotype-associated
VAR_027215 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027216 commonName VAR_027216
VAR_027216 disease phenotype-associated
VAR_027216 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027217 commonName VAR_027217
VAR_027217 disease phenotype-associated
VAR_027217 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027218 commonName VAR_027218
VAR_027218 disease phenotype-associated
VAR_027218 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027219 commonName VAR_027219
VAR_027219 disease phenotype-associated
VAR_027219 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027220 commonName VAR_027220
VAR_027220 disease phenotype-associated
VAR_027220 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027221 commonName VAR_027221
VAR_027221 disease phenotype-associated
VAR_027221 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027222 commonName VAR_027222
VAR_027222 disease phenotype-associated
VAR_027222 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027223 commonName VAR_027223
VAR_027223 disease phenotype-associated
VAR_027223 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027224 commonName VAR_027224
VAR_027224 disease phenotype-associated
VAR_027224 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027225 commonName VAR_027225
VAR_027225 disease phenotype-associated
VAR_027225 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027226 commonName VAR_027226
VAR_027226 disease phenotype-associated
VAR_027226 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027227 commonName VAR_027227
VAR_027227 disease phenotype-associated
VAR_027227 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027228 commonName VAR_027228
VAR_027228 disease phenotype-associated
VAR_027228 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_027229 commonName VAR_027229
VAR_027229 disease phenotype-associated
VAR_027229 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_027231 commonName VAR_027231
VAR_027231 disease phenotype-associated
VAR_027231 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_027232 commonName VAR_027232
VAR_027232 disease not phenotype-associated
VAR_027233 commonName VAR_027233
VAR_027233 disease not phenotype-associated
VAR_027234 commonName VAR_027234
VAR_027234 disease not phenotype-associated
VAR_027235 commonName VAR_027235
VAR_027235 disease phenotype-associated
VAR_027235 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]
VAR_027236 commonName VAR_027236
VAR_027236 disease not phenotype-associated
VAR_027237 commonName VAR_027237
VAR_027237 disease not phenotype-associated
VAR_027238 commonName VAR_027238
VAR_027238 disease phenotype-associated
VAR_027238 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_027239 commonName VAR_027239
VAR_027239 disease phenotype-associated
VAR_027239 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_027240 commonName VAR_027240
VAR_027240 disease phenotype-associated
VAR_027240 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_027241 commonName VAR_027241
VAR_027241 disease phenotype-associated
VAR_027241 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_027242 commonName VAR_027242
VAR_027242 disease phenotype-associated
VAR_027242 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_027242 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_027243 commonName VAR_027243
VAR_027243 disease not phenotype-associated
VAR_027244 commonName VAR_027244
VAR_027244 disease phenotype-associated
VAR_027244 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_027245 commonName VAR_027245
VAR_027245 disease not phenotype-associated
VAR_027246 commonName VAR_027246
VAR_027251 commonName VAR_027251
VAR_027251 disease not phenotype-associated
VAR_027252 commonName VAR_027252
VAR_027252 disease not phenotype-associated
VAR_027253 commonName VAR_027253
VAR_027253 disease not phenotype-associated
VAR_027254 commonName VAR_027254
VAR_027254 disease not phenotype-associated
VAR_027255 commonName VAR_027255
VAR_027255 disease not phenotype-associated
VAR_027256 commonName VAR_027256
VAR_027256 disease not phenotype-associated
VAR_027257 commonName VAR_027257
VAR_027257 disease not phenotype-associated
VAR_027258 commonName VAR_027258
VAR_027258 disease not phenotype-associated
VAR_027259 commonName VAR_027259
VAR_027259 disease not phenotype-associated
VAR_027260 commonName VAR_027260
VAR_027260 disease not phenotype-associated
VAR_027261 commonName VAR_027261
VAR_027261 disease not phenotype-associated
VAR_027262 commonName VAR_027262
VAR_027262 disease not phenotype-associated
VAR_027263 commonName VAR_027263
VAR_027263 disease not phenotype-associated
VAR_027264 commonName VAR_027264
VAR_027264 disease not phenotype-associated
VAR_027265 commonName VAR_027265
VAR_027265 disease not phenotype-associated
VAR_027266 commonName VAR_027266
VAR_027266 disease not phenotype-associated
VAR_027267 commonName VAR_027267
VAR_027267 disease not phenotype-associated
VAR_027268 commonName VAR_027268
VAR_027268 disease not phenotype-associated
VAR_027269 commonName VAR_027269
VAR_027269 disease phenotype-associated
VAR_027269 phenoCommon Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]
VAR_027270 commonName VAR_027270
VAR_027270 disease not phenotype-associated
VAR_027271 commonName VAR_027271
VAR_027271 disease not phenotype-associated
VAR_027272 commonName VAR_027272
VAR_027272 disease not phenotype-associated
VAR_027273 commonName VAR_027273
VAR_027273 disease not phenotype-associated
VAR_027274 commonName VAR_027274
VAR_027274 disease not phenotype-associated
VAR_027276 commonName VAR_027276
VAR_027276 disease not phenotype-associated
VAR_027277 commonName VAR_027277
VAR_027277 disease not phenotype-associated
VAR_027278 commonName VAR_027278
VAR_027278 disease not phenotype-associated
VAR_027279 commonName VAR_027279
VAR_027279 disease not phenotype-associated
VAR_027280 commonName VAR_027280
VAR_027280 disease phenotype-associated
VAR_027280 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027281 commonName VAR_027281
VAR_027281 disease phenotype-associated
VAR_027281 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027282 commonName VAR_027282
VAR_027282 disease phenotype-associated
VAR_027282 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027283 commonName VAR_027283
VAR_027283 disease phenotype-associated
VAR_027283 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027284 commonName VAR_027284
VAR_027284 disease phenotype-associated
VAR_027284 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027285 commonName VAR_027285
VAR_027285 disease phenotype-associated
VAR_027285 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027286 commonName VAR_027286
VAR_027286 disease phenotype-associated
VAR_027286 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]
VAR_027287 commonName VAR_027287
VAR_027287 disease phenotype-associated
VAR_027287 phenoCommon Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]
VAR_027288 commonName VAR_027288
VAR_027288 disease phenotype-associated
VAR_027288 phenoCommon Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]
VAR_027289 commonName VAR_027289
VAR_027289 disease not phenotype-associated
VAR_027290 commonName VAR_027290
VAR_027290 disease not phenotype-associated
VAR_027291 commonName VAR_027291
VAR_027291 disease not phenotype-associated
VAR_027292 commonName VAR_027292
VAR_027292 disease not phenotype-associated
VAR_027293 commonName VAR_027293
VAR_027293 disease not phenotype-associated
VAR_027294 commonName VAR_027294
VAR_027294 disease not phenotype-associated
VAR_027295 commonName VAR_027295
VAR_027295 disease not phenotype-associated
VAR_027296 commonName VAR_027296
VAR_027296 disease not phenotype-associated
VAR_027297 commonName VAR_027297
VAR_027297 disease not phenotype-associated
VAR_027298 commonName VAR_027298
VAR_027298 disease not phenotype-associated
VAR_027299 commonName VAR_027299
VAR_027299 disease not phenotype-associated
VAR_027300 commonName VAR_027300
VAR_027300 disease not phenotype-associated
VAR_027301 commonName VAR_027301
VAR_027301 disease phenotype-associated
VAR_027301 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027302 commonName VAR_027302
VAR_027302 disease phenotype-associated
VAR_027302 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027303 commonName VAR_027303
VAR_027303 disease phenotype-associated
VAR_027303 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027304 commonName VAR_027304
VAR_027304 disease phenotype-associated
VAR_027304 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027305 commonName VAR_027305
VAR_027305 disease phenotype-associated
VAR_027305 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027306 commonName VAR_027306
VAR_027306 disease phenotype-associated
VAR_027306 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]
VAR_027307 commonName VAR_027307
VAR_027307 disease phenotype-associated
VAR_027307 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]
VAR_027308 commonName VAR_027308
VAR_027308 disease phenotype-associated
VAR_027308 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]
VAR_027309 commonName VAR_027309
VAR_027309 disease phenotype-associated
VAR_027309 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027311 commonName VAR_027311
VAR_027312 commonName VAR_027312
VAR_027312 disease not phenotype-associated
VAR_027313 commonName VAR_027313
VAR_027313 disease not phenotype-associated
VAR_027314 commonName VAR_027314
VAR_027314 disease phenotype-associated
VAR_027314 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900]
VAR_027316 commonName VAR_027316
VAR_027316 disease not phenotype-associated
VAR_027317 commonName VAR_027317
VAR_027317 disease phenotype-associated
VAR_027317 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027318 commonName VAR_027318
VAR_027318 disease phenotype-associated
VAR_027318 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027319 commonName VAR_027319
VAR_027319 disease phenotype-associated
VAR_027319 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027320 commonName VAR_027320
VAR_027320 disease phenotype-associated
VAR_027320 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027321 commonName VAR_027321
VAR_027321 disease phenotype-associated
VAR_027321 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027322 commonName VAR_027322
VAR_027322 disease phenotype-associated
VAR_027322 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027323 commonName VAR_027323
VAR_027323 disease phenotype-associated
VAR_027323 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027324 commonName VAR_027324
VAR_027324 disease phenotype-associated
VAR_027324 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027325 commonName VAR_027325
VAR_027325 disease phenotype-associated
VAR_027325 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027326 commonName VAR_027326
VAR_027326 disease phenotype-associated
VAR_027326 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027327 commonName VAR_027327
VAR_027327 disease not phenotype-associated
VAR_027328 commonName VAR_027328
VAR_027328 disease phenotype-associated
VAR_027328 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027329 commonName VAR_027329
VAR_027329 disease phenotype-associated
VAR_027329 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027330 commonName VAR_027330
VAR_027330 disease not phenotype-associated
VAR_027331 commonName VAR_027331
VAR_027331 disease phenotype-associated
VAR_027331 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027332 commonName VAR_027332
VAR_027332 disease not phenotype-associated
VAR_027333 commonName VAR_027333
VAR_027333 disease phenotype-associated
VAR_027333 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027334 commonName VAR_027334
VAR_027334 disease phenotype-associated
VAR_027334 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027335 commonName VAR_027335
VAR_027335 disease not phenotype-associated
VAR_027336 commonName VAR_027336
VAR_027336 disease phenotype-associated
VAR_027336 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027337 commonName VAR_027337
VAR_027337 disease not phenotype-associated
VAR_027338 commonName VAR_027338
VAR_027338 disease not phenotype-associated
VAR_027339 commonName VAR_027339
VAR_027339 disease phenotype-associated
VAR_027339 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027340 commonName VAR_027340
VAR_027340 disease phenotype-associated
VAR_027340 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027341 commonName VAR_027341
VAR_027341 disease phenotype-associated
VAR_027341 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_027342 commonName VAR_027342
VAR_027342 disease phenotype-associated
VAR_027342 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027343 commonName VAR_027343
VAR_027343 disease phenotype-associated
VAR_027343 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027344 commonName VAR_027344
VAR_027344 disease not phenotype-associated
VAR_027345 commonName VAR_027345
VAR_027345 disease not phenotype-associated
VAR_027346 commonName VAR_027346
VAR_027346 disease not phenotype-associated
VAR_027347 commonName VAR_027347
VAR_027347 disease phenotype-associated
VAR_027347 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_027348 commonName VAR_027348
VAR_027348 disease not phenotype-associated
VAR_027349 commonName VAR_027349
VAR_027349 disease not phenotype-associated
VAR_027350 commonName VAR_027350
VAR_027350 disease phenotype-associated
VAR_027350 phenoCommon Parkinson disease type 13 (PARK13) [MIM:610297]
VAR_027351 commonName VAR_027351
VAR_027351 disease phenotype-associated
VAR_027351 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]
VAR_027352 commonName VAR_027352
VAR_027352 disease not phenotype-associated
VAR_027353 commonName VAR_027353
VAR_027353 disease not phenotype-associated
VAR_027354 commonName VAR_027354
VAR_027354 disease not phenotype-associated
VAR_027355 commonName VAR_027355
VAR_027355 disease not phenotype-associated
VAR_027356 commonName VAR_027356
VAR_027356 disease not phenotype-associated
VAR_027357 commonName VAR_027357
VAR_027357 disease not phenotype-associated
VAR_027358 commonName VAR_027358
VAR_027358 disease not phenotype-associated
VAR_027359 commonName VAR_027359
VAR_027359 disease not phenotype-associated
VAR_027360 commonName VAR_027360
VAR_027360 disease not phenotype-associated
VAR_027361 commonName VAR_027361
VAR_027361 disease not phenotype-associated
VAR_027362 commonName VAR_027362
VAR_027362 disease not phenotype-associated
VAR_027363 commonName VAR_027363
VAR_027363 disease not phenotype-associated
VAR_027364 commonName VAR_027364
VAR_027364 disease not phenotype-associated
VAR_027365 commonName VAR_027365
VAR_027365 disease not phenotype-associated
VAR_027366 commonName VAR_027366
VAR_027366 disease not phenotype-associated
VAR_027367 commonName VAR_027367
VAR_027367 disease not phenotype-associated
VAR_027368 commonName VAR_027368
VAR_027368 disease not phenotype-associated
VAR_027371 commonName VAR_027371
VAR_027371 disease phenotype-associated
VAR_027371 phenoCommon Familial erythrocytosis type 3 (ECYT3) [MIM:609820]
VAR_027374 commonName VAR_027374
VAR_027374 disease not phenotype-associated
VAR_027375 commonName VAR_027375
VAR_027375 disease not phenotype-associated
VAR_027376 commonName VAR_027376
VAR_027376 disease phenotype-associated
VAR_027376 phenoCommon Hereditary angioedema (HAE) [MIM:106100]
VAR_027377 commonName VAR_027377
VAR_027377 disease phenotype-associated
VAR_027377 phenoCommon Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]
VAR_027378 commonName VAR_027378
VAR_027378 disease not phenotype-associated
VAR_027379 commonName VAR_027379
VAR_027379 disease phenotype-associated
VAR_027379 phenoCommon Hereditary angioedema (HAE) [MIM:106100]
VAR_027380 commonName VAR_027380
VAR_027380 disease phenotype-associated
VAR_027380 phenoCommon Hereditary angioedema (HAE) [MIM:106100]
VAR_027381 commonName VAR_027381
VAR_027381 disease phenotype-associated
VAR_027381 phenoCommon Hereditary angioedema (HAE) [MIM:106100]
VAR_027385 commonName VAR_027385
VAR_027385 disease not phenotype-associated
VAR_027386 commonName VAR_027386
VAR_027386 disease not phenotype-associated
VAR_027387 commonName VAR_027387
VAR_027387 disease phenotype-associated
VAR_027387 phenoCommon Deafness autosomal recessive type 59 (DFNB59) [MIM:610220]
VAR_027388 commonName VAR_027388
VAR_027388 disease phenotype-associated
VAR_027388 phenoCommon Deafness autosomal recessive type 59 (DFNB59) [MIM:610220]
VAR_027389 commonName VAR_027389
VAR_027389 disease not phenotype-associated
VAR_027390 commonName VAR_027390
VAR_027390 disease not phenotype-associated
VAR_027392 commonName VAR_027392
VAR_027392 disease not phenotype-associated
VAR_027393 commonName VAR_027393
VAR_027393 disease not phenotype-associated
VAR_027394 commonName VAR_027394
VAR_027394 disease not phenotype-associated
VAR_027395 commonName VAR_027395
VAR_027396 commonName VAR_027396
VAR_027396 disease not phenotype-associated
VAR_027397 commonName VAR_027397
VAR_027397 disease not phenotype-associated
VAR_027398 commonName VAR_027398
VAR_027398 disease not phenotype-associated
VAR_027399 commonName VAR_027399
VAR_027399 disease not phenotype-associated
VAR_027401 commonName VAR_027401
VAR_027401 disease not phenotype-associated
VAR_027402 commonName VAR_027402
VAR_027402 disease not phenotype-associated
VAR_027403 commonName VAR_027403
VAR_027403 disease not phenotype-associated
VAR_027404 commonName VAR_027404
VAR_027404 disease not phenotype-associated
VAR_027405 commonName VAR_027405
VAR_027405 disease not phenotype-associated
VAR_027406 commonName VAR_027406
VAR_027406 disease not phenotype-associated
VAR_027407 commonName VAR_027407
VAR_027407 disease not phenotype-associated
VAR_027408 commonName VAR_027408
VAR_027408 disease not phenotype-associated
VAR_027409 commonName VAR_027409
VAR_027409 disease not phenotype-associated
VAR_027410 commonName VAR_027410
VAR_027410 disease not phenotype-associated
VAR_027411 commonName VAR_027411
VAR_027411 disease not phenotype-associated
VAR_027412 commonName VAR_027412
VAR_027412 disease not phenotype-associated
VAR_027413 commonName VAR_027413
VAR_027413 disease not phenotype-associated
VAR_027414 commonName VAR_027414
VAR_027414 disease not phenotype-associated
VAR_027416 commonName VAR_027416
VAR_027416 disease not phenotype-associated
VAR_027417 commonName VAR_027417
VAR_027417 disease not phenotype-associated
VAR_027418 commonName VAR_027418
VAR_027418 disease not phenotype-associated
VAR_027419 commonName VAR_027419
VAR_027419 disease not phenotype-associated
VAR_027420 commonName VAR_027420
VAR_027420 disease not phenotype-associated
VAR_027421 commonName VAR_027421
VAR_027421 disease not phenotype-associated
VAR_027422 commonName VAR_027422
VAR_027422 disease not phenotype-associated
VAR_027423 commonName VAR_027423
VAR_027423 disease not phenotype-associated
VAR_027424 commonName VAR_027424
VAR_027424 disease not phenotype-associated
VAR_027425 commonName VAR_027425
VAR_027425 disease not phenotype-associated
VAR_027426 commonName VAR_027426
VAR_027426 disease not phenotype-associated
VAR_027427 commonName VAR_027427
VAR_027427 disease not phenotype-associated
VAR_027428 commonName VAR_027428
VAR_027428 disease not phenotype-associated
VAR_027429 commonName VAR_027429
VAR_027429 disease not phenotype-associated
VAR_027430 commonName VAR_027430
VAR_027430 disease not phenotype-associated
VAR_027431 commonName VAR_027431
VAR_027431 disease not phenotype-associated
VAR_027432 commonName VAR_027432
VAR_027432 disease not phenotype-associated
VAR_027433 commonName VAR_027433
VAR_027433 disease not phenotype-associated
VAR_027434 commonName VAR_027434
VAR_027434 disease not phenotype-associated
VAR_027435 commonName VAR_027435
VAR_027435 disease not phenotype-associated
VAR_027436 commonName VAR_027436
VAR_027436 disease not phenotype-associated
VAR_027437 commonName VAR_027437
VAR_027437 disease not phenotype-associated
VAR_027438 commonName VAR_027438
VAR_027438 disease not phenotype-associated
VAR_027439 commonName VAR_027439
VAR_027439 disease phenotype-associated
VAR_027439 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_027440 commonName VAR_027440
VAR_027440 disease not phenotype-associated
VAR_027441 commonName VAR_027441
VAR_027441 disease not phenotype-associated
VAR_027442 commonName VAR_027442
VAR_027442 disease not phenotype-associated
VAR_027443 commonName VAR_027443
VAR_027443 disease not phenotype-associated
VAR_027444 commonName VAR_027444
VAR_027444 disease not phenotype-associated
VAR_027445 commonName VAR_027445
VAR_027445 disease not phenotype-associated
VAR_027446 commonName VAR_027446
VAR_027446 disease not phenotype-associated
VAR_027450 commonName VAR_027450
VAR_027450 disease phenotype-associated
VAR_027450 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027451 commonName VAR_027451
VAR_027451 disease phenotype-associated
VAR_027451 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027452 commonName VAR_027452
VAR_027452 disease phenotype-associated
VAR_027452 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027453 commonName VAR_027453
VAR_027453 disease phenotype-associated
VAR_027453 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027454 commonName VAR_027454
VAR_027454 disease phenotype-associated
VAR_027454 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027455 commonName VAR_027455
VAR_027455 disease phenotype-associated
VAR_027455 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027456 commonName VAR_027456
VAR_027456 disease phenotype-associated
VAR_027456 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027457 commonName VAR_027457
VAR_027457 disease phenotype-associated
VAR_027457 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027458 commonName VAR_027458
VAR_027458 disease phenotype-associated
VAR_027458 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027459 commonName VAR_027459
VAR_027459 disease phenotype-associated
VAR_027459 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027460 commonName VAR_027460
VAR_027460 disease phenotype-associated
VAR_027460 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027461 commonName VAR_027461
VAR_027461 disease phenotype-associated
VAR_027461 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027463 commonName VAR_027463
VAR_027463 disease phenotype-associated
VAR_027463 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027464 commonName VAR_027464
VAR_027464 disease phenotype-associated
VAR_027464 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027465 commonName VAR_027465
VAR_027465 disease phenotype-associated
VAR_027465 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027466 commonName VAR_027466
VAR_027466 disease phenotype-associated
VAR_027466 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027467 commonName VAR_027467
VAR_027467 disease phenotype-associated
VAR_027467 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027468 commonName VAR_027468
VAR_027468 disease phenotype-associated
VAR_027468 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027469 commonName VAR_027469
VAR_027469 disease phenotype-associated
VAR_027469 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027470 commonName VAR_027470
VAR_027470 disease phenotype-associated
VAR_027470 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027471 commonName VAR_027471
VAR_027471 disease phenotype-associated
VAR_027471 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027472 commonName VAR_027472
VAR_027472 disease phenotype-associated
VAR_027472 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027473 commonName VAR_027473
VAR_027473 disease phenotype-associated
VAR_027473 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118]
VAR_027474 commonName VAR_027474
VAR_027474 disease not phenotype-associated
VAR_027475 commonName VAR_027475
VAR_027475 disease not phenotype-associated
VAR_027477 commonName VAR_027477
VAR_027477 disease not phenotype-associated
VAR_027478 commonName VAR_027478
VAR_027478 disease not phenotype-associated
VAR_027479 commonName VAR_027479
VAR_027479 disease not phenotype-associated
VAR_027480 commonName VAR_027480
VAR_027480 disease not phenotype-associated
VAR_027481 commonName VAR_027481
VAR_027481 disease not phenotype-associated
VAR_027482 commonName VAR_027482
VAR_027482 disease not phenotype-associated
VAR_027483 commonName VAR_027483
VAR_027483 disease not phenotype-associated
VAR_027484 commonName VAR_027484
VAR_027484 disease not phenotype-associated
VAR_027487 commonName VAR_027487
VAR_027487 disease not phenotype-associated
VAR_027488 commonName VAR_027488
VAR_027488 disease not phenotype-associated
VAR_027489 commonName VAR_027489
VAR_027489 disease not phenotype-associated
VAR_027490 commonName VAR_027490
VAR_027490 disease not phenotype-associated
VAR_027491 commonName VAR_027491
VAR_027491 disease not phenotype-associated
VAR_027496 commonName VAR_027496
VAR_027496 disease not phenotype-associated
VAR_027497 commonName VAR_027497
VAR_027497 disease not phenotype-associated
VAR_027498 commonName VAR_027498
VAR_027498 disease not phenotype-associated
VAR_027499 commonName VAR_027499
VAR_027499 disease not phenotype-associated
VAR_027501 commonName VAR_027501
VAR_027501 disease not phenotype-associated
VAR_027502 commonName VAR_027502
VAR_027502 disease not phenotype-associated
VAR_027503 commonName VAR_027503
VAR_027503 disease not phenotype-associated
VAR_027505 commonName VAR_027505
VAR_027505 disease not phenotype-associated
VAR_027506 commonName VAR_027506
VAR_027506 disease not phenotype-associated
VAR_027507 commonName VAR_027507
VAR_027507 disease not phenotype-associated
VAR_027508 commonName VAR_027508
VAR_027509 commonName VAR_027509
VAR_027509 disease phenotype-associated
VAR_027509 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_027510 commonName VAR_027510
VAR_027510 disease not phenotype-associated
VAR_027511 commonName VAR_027511
VAR_027511 disease phenotype-associated
VAR_027511 phenoCommon Mucolipidosis type II (MLII) [MIM:252500]
VAR_027512 commonName VAR_027512
VAR_027512 disease phenotype-associated
VAR_027512 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_027513 commonName VAR_027513
VAR_027513 disease phenotype-associated
VAR_027513 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_027514 commonName VAR_027514
VAR_027514 disease phenotype-associated
VAR_027514 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_027515 commonName VAR_027515
VAR_027515 disease not phenotype-associated
VAR_027516 commonName VAR_027516
VAR_027516 disease not phenotype-associated
VAR_027528 commonName VAR_027528
VAR_027528 disease phenotype-associated
VAR_027528 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592]
VAR_027529 commonName VAR_027529
VAR_027529 disease not phenotype-associated
VAR_027530 commonName VAR_027530
VAR_027530 disease not phenotype-associated
VAR_027531 commonName VAR_027531
VAR_027531 disease not phenotype-associated
VAR_027532 commonName VAR_027532
VAR_027532 disease not phenotype-associated
VAR_027533 commonName VAR_027533
VAR_027533 disease phenotype-associated
VAR_027533 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592]
VAR_027534 commonName VAR_027534
VAR_027534 disease not phenotype-associated
VAR_027535 commonName VAR_027535
VAR_027535 disease not phenotype-associated
VAR_027536 commonName VAR_027536
VAR_027536 disease not phenotype-associated
VAR_027537 commonName VAR_027537
VAR_027537 disease not phenotype-associated
VAR_027538 commonName VAR_027538
VAR_027538 disease not phenotype-associated
VAR_027540 commonName VAR_027540
VAR_027540 disease not phenotype-associated
VAR_027541 commonName VAR_027541
VAR_027541 disease not phenotype-associated
VAR_027542 commonName VAR_027542
VAR_027542 disease not phenotype-associated
VAR_027543 commonName VAR_027543
VAR_027543 disease not phenotype-associated
VAR_027544 commonName VAR_027544
VAR_027544 disease phenotype-associated
VAR_027544 phenoCommon Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]
VAR_027545 commonName VAR_027545
VAR_027545 disease not phenotype-associated
VAR_027546 commonName VAR_027546
VAR_027546 disease not phenotype-associated
VAR_027547 commonName VAR_027547
VAR_027547 disease not phenotype-associated
VAR_027548 commonName VAR_027548
VAR_027548 disease not phenotype-associated
VAR_027549 commonName VAR_027549
VAR_027549 disease not phenotype-associated
VAR_027550 commonName VAR_027550
VAR_027550 disease not phenotype-associated
VAR_027551 commonName VAR_027551
VAR_027551 disease not phenotype-associated
VAR_027552 commonName VAR_027552
VAR_027552 disease not phenotype-associated
VAR_027553 commonName VAR_027553
VAR_027553 disease not phenotype-associated
VAR_027554 commonName VAR_027554
VAR_027554 disease not phenotype-associated
VAR_027555 commonName VAR_027555
VAR_027555 disease not phenotype-associated
VAR_027556 commonName VAR_027556
VAR_027556 disease not phenotype-associated
VAR_027557 commonName VAR_027557
VAR_027557 disease not phenotype-associated
VAR_027558 commonName VAR_027558
VAR_027558 disease not phenotype-associated
VAR_027559 commonName VAR_027559
VAR_027559 disease not phenotype-associated
VAR_027560 commonName VAR_027560
VAR_027560 disease not phenotype-associated
VAR_027561 commonName VAR_027561
VAR_027561 disease not phenotype-associated
VAR_027562 commonName VAR_027562
VAR_027562 disease not phenotype-associated
VAR_027563 commonName VAR_027563
VAR_027563 disease not phenotype-associated
VAR_027564 commonName VAR_027564
VAR_027564 disease not phenotype-associated
VAR_027565 commonName VAR_027565
VAR_027565 disease not phenotype-associated
VAR_027566 commonName VAR_027566
VAR_027566 disease not phenotype-associated
VAR_027567 commonName VAR_027567
VAR_027567 disease not phenotype-associated
VAR_027568 commonName VAR_027568
VAR_027568 disease not phenotype-associated
VAR_027569 commonName VAR_027569
VAR_027569 disease not phenotype-associated
VAR_027570 commonName VAR_027570
VAR_027570 disease not phenotype-associated
VAR_027571 commonName VAR_027571
VAR_027571 disease not phenotype-associated
VAR_027572 commonName VAR_027572
VAR_027572 disease not phenotype-associated
VAR_027573 commonName VAR_027573
VAR_027573 disease not phenotype-associated
VAR_027574 commonName VAR_027574
VAR_027574 disease not phenotype-associated
VAR_027576 commonName VAR_027576
VAR_027576 disease not phenotype-associated
VAR_027577 commonName VAR_027577
VAR_027577 disease not phenotype-associated
VAR_027578 commonName VAR_027578
VAR_027578 disease not phenotype-associated
VAR_027579 commonName VAR_027579
VAR_027579 disease not phenotype-associated
VAR_027580 commonName VAR_027580
VAR_027580 disease not phenotype-associated
VAR_027581 commonName VAR_027581
VAR_027581 disease not phenotype-associated
VAR_027582 commonName VAR_027582
VAR_027582 disease not phenotype-associated
VAR_027583 commonName VAR_027583
VAR_027583 disease not phenotype-associated
VAR_027584 commonName VAR_027584
VAR_027584 disease not phenotype-associated
VAR_027585 commonName VAR_027585
VAR_027585 disease not phenotype-associated
VAR_027586 commonName VAR_027586
VAR_027586 disease not phenotype-associated
VAR_027587 commonName VAR_027587
VAR_027587 disease not phenotype-associated
VAR_027588 commonName VAR_027588
VAR_027588 disease not phenotype-associated
VAR_027589 commonName VAR_027589
VAR_027589 disease not phenotype-associated
VAR_027590 commonName VAR_027590
VAR_027590 disease not phenotype-associated
VAR_027591 commonName VAR_027591
VAR_027591 disease not phenotype-associated
VAR_027592 commonName VAR_027592
VAR_027592 disease not phenotype-associated
VAR_027593 commonName VAR_027593
VAR_027593 disease not phenotype-associated
VAR_027594 commonName VAR_027594
VAR_027594 disease not phenotype-associated
VAR_027595 commonName VAR_027595
VAR_027595 disease not phenotype-associated
VAR_027596 commonName VAR_027596
VAR_027596 disease not phenotype-associated
VAR_027597 commonName VAR_027597
VAR_027597 disease not phenotype-associated
VAR_027598 commonName VAR_027598
VAR_027598 disease not phenotype-associated
VAR_027599 commonName VAR_027599
VAR_027599 disease not phenotype-associated
VAR_027600 commonName VAR_027600
VAR_027600 disease not phenotype-associated
VAR_027601 commonName VAR_027601
VAR_027601 disease not phenotype-associated
VAR_027602 commonName VAR_027602
VAR_027602 disease not phenotype-associated
VAR_027603 commonName VAR_027603
VAR_027603 disease not phenotype-associated
VAR_027604 commonName VAR_027604
VAR_027604 disease not phenotype-associated
VAR_027607 commonName VAR_027607
VAR_027607 disease not phenotype-associated
VAR_027608 commonName VAR_027608
VAR_027608 disease not phenotype-associated
VAR_027609 commonName VAR_027609
VAR_027609 disease not phenotype-associated
VAR_027610 commonName VAR_027610
VAR_027610 disease not phenotype-associated
VAR_027612 commonName VAR_027612
VAR_027612 disease not phenotype-associated
VAR_027613 commonName VAR_027613
VAR_027613 disease not phenotype-associated
VAR_027614 commonName VAR_027614
VAR_027614 disease not phenotype-associated
VAR_027615 commonName VAR_027615
VAR_027615 disease not phenotype-associated
VAR_027616 commonName VAR_027616
VAR_027616 disease not phenotype-associated
VAR_027617 commonName VAR_027617
VAR_027617 disease not phenotype-associated
VAR_027618 commonName VAR_027618
VAR_027618 disease not phenotype-associated
VAR_027619 commonName VAR_027619
VAR_027619 disease not phenotype-associated
VAR_027620 commonName VAR_027620
VAR_027620 disease not phenotype-associated
VAR_027621 commonName VAR_027621
VAR_027621 disease not phenotype-associated
VAR_027622 commonName VAR_027622
VAR_027622 disease not phenotype-associated
VAR_027623 commonName VAR_027623
VAR_027623 disease not phenotype-associated
VAR_027624 commonName VAR_027624
VAR_027624 disease not phenotype-associated
VAR_027625 commonName VAR_027625
VAR_027625 disease not phenotype-associated
VAR_027626 commonName VAR_027626
VAR_027626 disease not phenotype-associated
VAR_027627 commonName VAR_027627
VAR_027627 disease not phenotype-associated
VAR_027628 commonName VAR_027628
VAR_027628 disease not phenotype-associated
VAR_027629 commonName VAR_027629
VAR_027629 disease not phenotype-associated
VAR_027630 commonName VAR_027630
VAR_027630 disease not phenotype-associated
VAR_027631 commonName VAR_027631
VAR_027631 disease not phenotype-associated
VAR_027632 commonName VAR_027632
VAR_027632 disease phenotype-associated
VAR_027632 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
VAR_027633 commonName VAR_027633
VAR_027633 disease phenotype-associated
VAR_027633 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
VAR_027634 commonName VAR_027634
VAR_027634 disease phenotype-associated
VAR_027634 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
VAR_027635 commonName VAR_027635
VAR_027635 disease phenotype-associated
VAR_027635 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
VAR_027637 commonName VAR_027637
VAR_027637 disease phenotype-associated
VAR_027637 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
VAR_027638 commonName VAR_027638
VAR_027638 disease not phenotype-associated
VAR_027639 commonName VAR_027639
VAR_027639 disease not phenotype-associated
VAR_027640 commonName VAR_027640
VAR_027640 disease not phenotype-associated
VAR_027641 commonName VAR_027641
VAR_027641 disease phenotype-associated
VAR_027641 phenoCommon Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]
VAR_027642 commonName VAR_027642
VAR_027642 disease not phenotype-associated
VAR_027643 commonName VAR_027643
VAR_027643 disease phenotype-associated
VAR_027643 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
VAR_027644 commonName VAR_027644
VAR_027644 disease phenotype-associated
VAR_027644 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
VAR_027645 commonName VAR_027645
VAR_027645 disease phenotype-associated
VAR_027645 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
VAR_027646 commonName VAR_027646
VAR_027646 disease phenotype-associated
VAR_027646 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
VAR_027647 commonName VAR_027647
VAR_027647 disease not phenotype-associated
VAR_027648 commonName VAR_027648
VAR_027648 disease not phenotype-associated
VAR_027649 commonName VAR_027649
VAR_027649 disease not phenotype-associated
VAR_027650 commonName VAR_027650
VAR_027650 disease not phenotype-associated
VAR_027651 commonName VAR_027651
VAR_027651 disease not phenotype-associated
VAR_027652 commonName VAR_027652
VAR_027652 disease not phenotype-associated
VAR_027653 commonName VAR_027653
VAR_027653 disease not phenotype-associated
VAR_027654 commonName VAR_027654
VAR_027654 disease not phenotype-associated
VAR_027655 commonName VAR_027655
VAR_027655 disease not phenotype-associated
VAR_027656 commonName VAR_027656
VAR_027656 disease not phenotype-associated
VAR_027657 commonName VAR_027657
VAR_027657 disease not phenotype-associated
VAR_027658 commonName VAR_027658
VAR_027658 disease not phenotype-associated
VAR_027659 commonName VAR_027659
VAR_027659 disease not phenotype-associated
VAR_027660 commonName VAR_027660
VAR_027660 disease not phenotype-associated
VAR_027661 commonName VAR_027661
VAR_027661 disease not phenotype-associated
VAR_027663 commonName VAR_027663
VAR_027663 disease not phenotype-associated
VAR_027664 commonName VAR_027664
VAR_027664 disease not phenotype-associated
VAR_027665 commonName VAR_027665
VAR_027665 disease not phenotype-associated
VAR_027666 commonName VAR_027666
VAR_027666 disease not phenotype-associated
VAR_027667 commonName VAR_027667
VAR_027667 disease not phenotype-associated
VAR_027668 commonName VAR_027668
VAR_027668 disease not phenotype-associated
VAR_027669 commonName VAR_027669
VAR_027669 disease not phenotype-associated
VAR_027670 commonName VAR_027670
VAR_027670 disease not phenotype-associated
VAR_027671 commonName VAR_027671
VAR_027671 disease not phenotype-associated
VAR_027672 commonName VAR_027672
VAR_027672 disease not phenotype-associated
VAR_027673 commonName VAR_027673
VAR_027673 disease not phenotype-associated
VAR_027674 commonName VAR_027674
VAR_027674 disease not phenotype-associated
VAR_027675 commonName VAR_027675
VAR_027675 disease not phenotype-associated
VAR_027676 commonName VAR_027676
VAR_027676 disease not phenotype-associated
VAR_027677 commonName VAR_027677
VAR_027677 disease not phenotype-associated
VAR_027678 commonName VAR_027678
VAR_027678 disease not phenotype-associated
VAR_027679 commonName VAR_027679
VAR_027679 disease not phenotype-associated
VAR_027680 commonName VAR_027680
VAR_027680 disease not phenotype-associated
VAR_027681 commonName VAR_027681
VAR_027681 disease not phenotype-associated
VAR_027682 commonName VAR_027682
VAR_027682 disease not phenotype-associated
VAR_027683 commonName VAR_027683
VAR_027683 disease not phenotype-associated
VAR_027684 commonName VAR_027684
VAR_027684 disease not phenotype-associated
VAR_027685 commonName VAR_027685
VAR_027685 disease not phenotype-associated
VAR_027686 commonName VAR_027686
VAR_027686 disease not phenotype-associated
VAR_027687 commonName VAR_027687
VAR_027687 disease not phenotype-associated
VAR_027688 commonName VAR_027688
VAR_027688 disease not phenotype-associated
VAR_027689 commonName VAR_027689
VAR_027689 disease not phenotype-associated
VAR_027690 commonName VAR_027690
VAR_027690 disease not phenotype-associated
VAR_027691 commonName VAR_027691
VAR_027691 disease not phenotype-associated
VAR_027692 commonName VAR_027692
VAR_027692 disease not phenotype-associated
VAR_027693 commonName VAR_027693
VAR_027693 disease not phenotype-associated
VAR_027694 commonName VAR_027694
VAR_027694 disease not phenotype-associated
VAR_027695 commonName VAR_027695
VAR_027695 disease not phenotype-associated
VAR_027696 commonName VAR_027696
VAR_027696 disease not phenotype-associated
VAR_027697 commonName VAR_027697
VAR_027697 disease not phenotype-associated
VAR_027698 commonName VAR_027698
VAR_027698 disease not phenotype-associated
VAR_027699 commonName VAR_027699
VAR_027699 disease not phenotype-associated
VAR_027700 commonName VAR_027700
VAR_027700 disease not phenotype-associated
VAR_027701 commonName VAR_027701
VAR_027701 disease not phenotype-associated
VAR_027702 commonName VAR_027702
VAR_027702 disease not phenotype-associated
VAR_027703 commonName VAR_027703
VAR_027703 disease not phenotype-associated
VAR_027704 commonName VAR_027704
VAR_027704 disease not phenotype-associated
VAR_027705 commonName VAR_027705
VAR_027705 disease not phenotype-associated
VAR_027706 commonName VAR_027706
VAR_027706 disease not phenotype-associated
VAR_027707 commonName VAR_027707
VAR_027707 disease not phenotype-associated
VAR_027708 commonName VAR_027708
VAR_027708 disease not phenotype-associated
VAR_027709 commonName VAR_027709
VAR_027709 disease not phenotype-associated
VAR_027710 commonName VAR_027710
VAR_027710 disease not phenotype-associated
VAR_027711 commonName VAR_027711
VAR_027711 disease not phenotype-associated
VAR_027712 commonName VAR_027712
VAR_027712 disease not phenotype-associated
VAR_027713 commonName VAR_027713
VAR_027713 disease not phenotype-associated
VAR_027714 commonName VAR_027714
VAR_027714 disease not phenotype-associated
VAR_027716 commonName VAR_027716
VAR_027716 disease not phenotype-associated
VAR_027717 commonName VAR_027717
VAR_027717 disease not phenotype-associated
VAR_027718 commonName VAR_027718
VAR_027718 disease phenotype-associated
VAR_027718 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_027719 commonName VAR_027719
VAR_027719 disease phenotype-associated
VAR_027719 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_027721 commonName VAR_027721
VAR_027721 disease phenotype-associated
VAR_027721 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_027722 commonName VAR_027722
VAR_027722 disease phenotype-associated
VAR_027722 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_027723 commonName VAR_027723
VAR_027723 disease phenotype-associated
VAR_027723 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_027724 commonName VAR_027724
VAR_027724 disease phenotype-associated
VAR_027724 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_027725 commonName VAR_027725
VAR_027725 disease phenotype-associated
VAR_027725 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_027726 commonName VAR_027726
VAR_027726 disease phenotype-associated
VAR_027726 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_027727 commonName VAR_027727
VAR_027727 disease not phenotype-associated
VAR_027728 commonName VAR_027728
VAR_027728 disease not phenotype-associated
VAR_027729 commonName VAR_027729
VAR_027729 disease not phenotype-associated
VAR_027730 commonName VAR_027730
VAR_027730 disease not phenotype-associated
VAR_027731 commonName VAR_027731
VAR_027731 disease not phenotype-associated
VAR_027732 commonName VAR_027732
VAR_027732 disease not phenotype-associated
VAR_027734 commonName VAR_027734
VAR_027734 disease not phenotype-associated
VAR_027735 commonName VAR_027735
VAR_027735 disease not phenotype-associated
VAR_027736 commonName VAR_027736
VAR_027736 disease not phenotype-associated
VAR_027737 commonName VAR_027737
VAR_027737 disease not phenotype-associated
VAR_027738 commonName VAR_027738
VAR_027738 disease not phenotype-associated
VAR_027739 commonName VAR_027739
VAR_027739 disease not phenotype-associated
VAR_027740 commonName VAR_027740
VAR_027740 disease not phenotype-associated
VAR_027741 commonName VAR_027741
VAR_027741 disease not phenotype-associated
VAR_027742 commonName VAR_027742
VAR_027742 disease not phenotype-associated
VAR_027743 commonName VAR_027743
VAR_027743 disease not phenotype-associated
VAR_027744 commonName VAR_027744
VAR_027744 disease not phenotype-associated
VAR_027745 commonName VAR_027745
VAR_027745 disease not phenotype-associated
VAR_027746 commonName VAR_027746
VAR_027746 disease not phenotype-associated
VAR_027747 commonName VAR_027747
VAR_027747 disease not phenotype-associated
VAR_027748 commonName VAR_027748
VAR_027748 disease not phenotype-associated
VAR_027749 commonName VAR_027749
VAR_027749 disease not phenotype-associated
VAR_027750 commonName VAR_027750
VAR_027750 disease not phenotype-associated
VAR_027751 commonName VAR_027751
VAR_027751 disease not phenotype-associated
VAR_027752 commonName VAR_027752
VAR_027752 disease not phenotype-associated
VAR_027753 commonName VAR_027753
VAR_027753 disease not phenotype-associated
VAR_027754 commonName VAR_027754
VAR_027754 disease not phenotype-associated
VAR_027755 commonName VAR_027755
VAR_027755 disease not phenotype-associated
VAR_027756 commonName VAR_027756
VAR_027756 disease not phenotype-associated
VAR_027757 commonName VAR_027757
VAR_027757 disease not phenotype-associated
VAR_027758 commonName VAR_027758
VAR_027758 disease not phenotype-associated
VAR_027759 commonName VAR_027759
VAR_027759 disease not phenotype-associated
VAR_027760 commonName VAR_027760
VAR_027760 disease not phenotype-associated
VAR_027761 commonName VAR_027761
VAR_027761 disease not phenotype-associated
VAR_027762 commonName VAR_027762
VAR_027762 disease not phenotype-associated
VAR_027763 commonName VAR_027763
VAR_027763 disease not phenotype-associated
VAR_027764 commonName VAR_027764
VAR_027764 disease not phenotype-associated
VAR_027765 commonName VAR_027765
VAR_027765 disease not phenotype-associated
VAR_027766 commonName VAR_027766
VAR_027766 disease not phenotype-associated
VAR_027767 commonName VAR_027767
VAR_027767 disease not phenotype-associated
VAR_027768 commonName VAR_027768
VAR_027768 disease not phenotype-associated
VAR_027769 commonName VAR_027769
VAR_027769 disease not phenotype-associated
VAR_027770 commonName VAR_027770
VAR_027770 disease not phenotype-associated
VAR_027771 commonName VAR_027771
VAR_027771 disease not phenotype-associated
VAR_027772 commonName VAR_027772
VAR_027772 disease not phenotype-associated
VAR_027773 commonName VAR_027773
VAR_027773 disease not phenotype-associated
VAR_027774 commonName VAR_027774
VAR_027774 disease not phenotype-associated
VAR_027775 commonName VAR_027775
VAR_027775 disease not phenotype-associated
VAR_027776 commonName VAR_027776
VAR_027776 disease not phenotype-associated
VAR_027777 commonName VAR_027777
VAR_027777 disease not phenotype-associated
VAR_027778 commonName VAR_027778
VAR_027778 disease not phenotype-associated
VAR_027779 commonName VAR_027779
VAR_027779 disease not phenotype-associated
VAR_027780 commonName VAR_027780
VAR_027780 disease not phenotype-associated
VAR_027781 commonName VAR_027781
VAR_027781 disease not phenotype-associated
VAR_027782 commonName VAR_027782
VAR_027782 disease not phenotype-associated
VAR_027783 commonName VAR_027783
VAR_027783 disease not phenotype-associated
VAR_027784 commonName VAR_027784
VAR_027784 disease not phenotype-associated
VAR_027785 commonName VAR_027785
VAR_027785 disease not phenotype-associated
VAR_027786 commonName VAR_027786
VAR_027786 disease not phenotype-associated
VAR_027787 commonName VAR_027787
VAR_027787 disease not phenotype-associated
VAR_027788 commonName VAR_027788
VAR_027788 disease not phenotype-associated
VAR_027789 commonName VAR_027789
VAR_027789 disease not phenotype-associated
VAR_027790 commonName VAR_027790
VAR_027790 disease not phenotype-associated
VAR_027791 commonName VAR_027791
VAR_027791 disease not phenotype-associated
VAR_027793 commonName VAR_027793
VAR_027793 disease not phenotype-associated
VAR_027794 commonName VAR_027794
VAR_027794 disease not phenotype-associated
VAR_027795 commonName VAR_027795
VAR_027795 disease phenotype-associated
VAR_027795 phenoCommon Autism X-linked type 5 (AUTSX5) [MIM:300847]
VAR_027796 commonName VAR_027796
VAR_027796 disease phenotype-associated
VAR_027796 phenoCommon Autism X-linked type 5 (AUTSX5) [MIM:300847]
VAR_027797 commonName VAR_027797
VAR_027797 disease not phenotype-associated
VAR_027798 commonName VAR_027798
VAR_027798 disease not phenotype-associated
VAR_027799 commonName VAR_027799
VAR_027799 disease not phenotype-associated
VAR_027800 commonName VAR_027800
VAR_027800 disease not phenotype-associated
VAR_027801 commonName VAR_027801
VAR_027801 disease not phenotype-associated
VAR_027802 commonName VAR_027802
VAR_027802 disease not phenotype-associated
VAR_027803 commonName VAR_027803
VAR_027803 disease not phenotype-associated
VAR_027804 commonName VAR_027804
VAR_027804 disease not phenotype-associated
VAR_027805 commonName VAR_027805
VAR_027805 disease not phenotype-associated
VAR_027806 commonName VAR_027806
VAR_027806 disease not phenotype-associated
VAR_027807 commonName VAR_027807
VAR_027807 disease not phenotype-associated
VAR_027808 commonName VAR_027808
VAR_027808 disease not phenotype-associated
VAR_027809 commonName VAR_027809
VAR_027809 disease not phenotype-associated
VAR_027810 commonName VAR_027810
VAR_027810 disease not phenotype-associated
VAR_027811 commonName VAR_027811
VAR_027811 disease not phenotype-associated
VAR_027812 commonName VAR_027812
VAR_027812 disease not phenotype-associated
VAR_027813 commonName VAR_027813
VAR_027813 disease not phenotype-associated
VAR_027815 commonName VAR_027815
VAR_027815 disease not phenotype-associated
VAR_027824 commonName VAR_027824
VAR_027824 disease not phenotype-associated
VAR_027825 commonName VAR_027825
VAR_027825 disease not phenotype-associated
VAR_027826 commonName VAR_027826
VAR_027826 disease not phenotype-associated
VAR_027827 commonName VAR_027827
VAR_027827 disease not phenotype-associated
VAR_027828 commonName VAR_027828
VAR_027828 disease not phenotype-associated
VAR_027829 commonName VAR_027829
VAR_027829 disease not phenotype-associated
VAR_027830 commonName VAR_027830
VAR_027830 disease not phenotype-associated
VAR_027831 commonName VAR_027831
VAR_027831 disease not phenotype-associated
VAR_027832 commonName VAR_027832
VAR_027832 disease not phenotype-associated
VAR_027833 commonName VAR_027833
VAR_027833 disease not phenotype-associated
VAR_027834 commonName VAR_027834
VAR_027834 disease not phenotype-associated
VAR_027835 commonName VAR_027835
VAR_027835 disease not phenotype-associated
VAR_027836 commonName VAR_027836
VAR_027836 disease not phenotype-associated
VAR_027837 commonName VAR_027837
VAR_027837 disease not phenotype-associated
VAR_027838 commonName VAR_027838
VAR_027838 disease not phenotype-associated
VAR_027839 commonName VAR_027839
VAR_027839 disease not phenotype-associated
VAR_027840 commonName VAR_027840
VAR_027840 disease not phenotype-associated
VAR_027841 commonName VAR_027841
VAR_027841 disease not phenotype-associated
VAR_027842 commonName VAR_027842
VAR_027842 disease not phenotype-associated
VAR_027843 commonName VAR_027843
VAR_027843 disease not phenotype-associated
VAR_027844 commonName VAR_027844
VAR_027844 disease not phenotype-associated
VAR_027845 commonName VAR_027845
VAR_027845 disease not phenotype-associated
VAR_027846 commonName VAR_027846
VAR_027846 disease not phenotype-associated
VAR_027848 commonName VAR_027848
VAR_027848 disease not phenotype-associated
VAR_027849 commonName VAR_027849
VAR_027849 disease not phenotype-associated
VAR_027850 commonName VAR_027850
VAR_027850 disease not phenotype-associated
VAR_027851 commonName VAR_027851
VAR_027851 disease not phenotype-associated
VAR_027852 commonName VAR_027852
VAR_027852 disease not phenotype-associated
VAR_027853 commonName VAR_027853
VAR_027853 disease not phenotype-associated
VAR_027854 commonName VAR_027854
VAR_027854 disease not phenotype-associated
VAR_027855 commonName VAR_027855
VAR_027855 disease not phenotype-associated
VAR_027856 commonName VAR_027856
VAR_027856 disease not phenotype-associated
VAR_027857 commonName VAR_027857
VAR_027857 disease not phenotype-associated
VAR_027859 commonName VAR_027859
VAR_027859 disease not phenotype-associated
VAR_027860 commonName VAR_027860
VAR_027860 disease not phenotype-associated
VAR_027861 commonName VAR_027861
VAR_027861 disease not phenotype-associated
VAR_027862 commonName VAR_027862
VAR_027862 disease not phenotype-associated
VAR_027863 commonName VAR_027863
VAR_027863 disease not phenotype-associated
VAR_027864 commonName VAR_027864
VAR_027864 disease not phenotype-associated
VAR_027865 commonName VAR_027865
VAR_027865 disease not phenotype-associated
VAR_027866 commonName VAR_027866
VAR_027866 disease not phenotype-associated
VAR_027868 commonName VAR_027868
VAR_027868 disease not phenotype-associated
VAR_027869 commonName VAR_027869
VAR_027869 disease not phenotype-associated
VAR_027870 commonName VAR_027870
VAR_027870 disease not phenotype-associated
VAR_027871 commonName VAR_027871
VAR_027871 disease not phenotype-associated
VAR_027872 commonName VAR_027872
VAR_027872 disease not phenotype-associated
VAR_027873 commonName VAR_027873
VAR_027873 disease not phenotype-associated
VAR_027874 commonName VAR_027874
VAR_027874 disease not phenotype-associated
VAR_027875 commonName VAR_027875
VAR_027875 disease not phenotype-associated
VAR_027876 commonName VAR_027876
VAR_027876 disease not phenotype-associated
VAR_027877 commonName VAR_027877
VAR_027877 disease not phenotype-associated
VAR_027878 commonName VAR_027878
VAR_027878 disease not phenotype-associated
VAR_027882 commonName VAR_027882
VAR_027882 disease not phenotype-associated
VAR_027883 commonName VAR_027883
VAR_027883 disease not phenotype-associated
VAR_027884 commonName VAR_027884
VAR_027884 disease not phenotype-associated
VAR_027885 commonName VAR_027885
VAR_027885 disease not phenotype-associated
VAR_027886 commonName VAR_027886
VAR_027886 disease not phenotype-associated
VAR_027887 commonName VAR_027887
VAR_027887 disease not phenotype-associated
VAR_027888 commonName VAR_027888
VAR_027888 disease not phenotype-associated
VAR_027889 commonName VAR_027889
VAR_027889 disease not phenotype-associated
VAR_027890 commonName VAR_027890
VAR_027890 disease not phenotype-associated
VAR_027891 commonName VAR_027891
VAR_027891 disease not phenotype-associated
VAR_027892 commonName VAR_027892
VAR_027892 disease not phenotype-associated
VAR_027893 commonName VAR_027893
VAR_027893 disease not phenotype-associated
VAR_027894 commonName VAR_027894
VAR_027894 disease not phenotype-associated
VAR_027895 commonName VAR_027895
VAR_027895 disease not phenotype-associated
VAR_027896 commonName VAR_027896
VAR_027896 disease not phenotype-associated
VAR_027897 commonName VAR_027897
VAR_027897 disease not phenotype-associated
VAR_027898 commonName VAR_027898
VAR_027898 disease not phenotype-associated
VAR_027899 commonName VAR_027899
VAR_027899 disease not phenotype-associated
VAR_027900 commonName VAR_027900
VAR_027900 disease not phenotype-associated
VAR_027901 commonName VAR_027901
VAR_027901 disease not phenotype-associated
VAR_027902 commonName VAR_027902
VAR_027902 disease not phenotype-associated
VAR_027903 commonName VAR_027903
VAR_027903 disease not phenotype-associated
VAR_027904 commonName VAR_027904
VAR_027904 disease not phenotype-associated
VAR_027905 commonName VAR_027905
VAR_027905 disease not phenotype-associated
VAR_027906 commonName VAR_027906
VAR_027906 disease not phenotype-associated
VAR_027907 commonName VAR_027907
VAR_027907 disease not phenotype-associated
VAR_027908 commonName VAR_027908
VAR_027908 disease not phenotype-associated
VAR_027909 commonName VAR_027909
VAR_027909 disease not phenotype-associated
VAR_027910 commonName VAR_027910
VAR_027910 disease not phenotype-associated
VAR_027911 commonName VAR_027911
VAR_027911 disease not phenotype-associated
VAR_027912 commonName VAR_027912
VAR_027912 disease not phenotype-associated
VAR_027914 commonName VAR_027914
VAR_027914 disease not phenotype-associated
VAR_027915 commonName VAR_027915
VAR_027915 disease not phenotype-associated
VAR_027916 commonName VAR_027916
VAR_027916 disease not phenotype-associated
VAR_027917 commonName VAR_027917
VAR_027917 disease not phenotype-associated
VAR_027918 commonName VAR_027918
VAR_027918 disease not phenotype-associated
VAR_027919 commonName VAR_027919
VAR_027919 disease not phenotype-associated
VAR_027920 commonName VAR_027920
VAR_027920 disease not phenotype-associated
VAR_027921 commonName VAR_027921
VAR_027921 disease not phenotype-associated
VAR_027922 commonName VAR_027922
VAR_027922 disease not phenotype-associated
VAR_027923 commonName VAR_027923
VAR_027923 disease not phenotype-associated
VAR_027924 commonName VAR_027924
VAR_027924 disease not phenotype-associated
VAR_027926 commonName VAR_027926
VAR_027926 disease not phenotype-associated
VAR_027927 commonName VAR_027927
VAR_027927 disease not phenotype-associated
VAR_027928 commonName VAR_027928
VAR_027928 disease not phenotype-associated
VAR_027929 commonName VAR_027929
VAR_027929 disease not phenotype-associated
VAR_027930 commonName VAR_027930
VAR_027930 disease not phenotype-associated
VAR_027931 commonName VAR_027931
VAR_027931 disease not phenotype-associated
VAR_027932 commonName VAR_027932
VAR_027932 disease not phenotype-associated
VAR_027933 commonName VAR_027933
VAR_027933 disease not phenotype-associated
VAR_027934 commonName VAR_027934
VAR_027934 disease not phenotype-associated
VAR_027935 commonName VAR_027935
VAR_027935 disease not phenotype-associated
VAR_027936 commonName VAR_027936
VAR_027936 disease not phenotype-associated
VAR_027937 commonName VAR_027937
VAR_027937 disease not phenotype-associated
VAR_027938 commonName VAR_027938
VAR_027938 disease not phenotype-associated
VAR_027939 commonName VAR_027939
VAR_027939 disease not phenotype-associated
VAR_027940 commonName VAR_027940
VAR_027940 disease not phenotype-associated
VAR_027941 commonName VAR_027941
VAR_027941 disease not phenotype-associated
VAR_027942 commonName VAR_027942
VAR_027942 disease not phenotype-associated
VAR_027943 commonName VAR_027943
VAR_027943 disease not phenotype-associated
VAR_027944 commonName VAR_027944
VAR_027944 disease not phenotype-associated
VAR_027945 commonName VAR_027945
VAR_027945 disease not phenotype-associated
VAR_027946 commonName VAR_027946
VAR_027946 disease not phenotype-associated
VAR_027947 commonName VAR_027947
VAR_027947 disease not phenotype-associated
VAR_027948 commonName VAR_027948
VAR_027948 disease not phenotype-associated
VAR_027949 commonName VAR_027949
VAR_027949 disease not phenotype-associated
VAR_027950 commonName VAR_027950
VAR_027950 disease not phenotype-associated
VAR_027951 commonName VAR_027951
VAR_027951 disease not phenotype-associated
VAR_027952 commonName VAR_027952
VAR_027952 disease not phenotype-associated
VAR_027953 commonName VAR_027953
VAR_027953 disease not phenotype-associated
VAR_027954 commonName VAR_027954
VAR_027954 disease not phenotype-associated
VAR_027955 commonName VAR_027955
VAR_027955 disease not phenotype-associated
VAR_027956 commonName VAR_027956
VAR_027956 disease not phenotype-associated
VAR_027957 commonName VAR_027957
VAR_027957 disease not phenotype-associated
VAR_027958 commonName VAR_027958
VAR_027958 disease not phenotype-associated
VAR_027959 commonName VAR_027959
VAR_027959 disease not phenotype-associated
VAR_027960 commonName VAR_027960
VAR_027960 disease not phenotype-associated
VAR_027962 commonName VAR_027962
VAR_027962 disease not phenotype-associated
VAR_027965 commonName VAR_027965
VAR_027965 disease not phenotype-associated
VAR_027966 commonName VAR_027966
VAR_027966 disease not phenotype-associated
VAR_027967 commonName VAR_027967
VAR_027967 disease not phenotype-associated
VAR_027968 commonName VAR_027968
VAR_027968 disease not phenotype-associated
VAR_027970 commonName VAR_027970
VAR_027970 disease not phenotype-associated
VAR_027971 commonName VAR_027971
VAR_027971 disease not phenotype-associated
VAR_027972 commonName VAR_027972
VAR_027972 disease not phenotype-associated
VAR_027975 commonName VAR_027975
VAR_027975 disease not phenotype-associated
VAR_027976 commonName VAR_027976
VAR_027976 disease not phenotype-associated
VAR_027977 commonName VAR_027977
VAR_027977 disease not phenotype-associated
VAR_027978 commonName VAR_027978
VAR_027978 disease not phenotype-associated
VAR_027979 commonName VAR_027979
VAR_027979 disease not phenotype-associated
VAR_027980 commonName VAR_027980
VAR_027980 disease not phenotype-associated
VAR_027981 commonName VAR_027981
VAR_027981 disease not phenotype-associated
VAR_027982 commonName VAR_027982
VAR_027982 disease not phenotype-associated
VAR_027983 commonName VAR_027983
VAR_027983 disease not phenotype-associated
VAR_027984 commonName VAR_027984
VAR_027984 disease not phenotype-associated
VAR_027985 commonName VAR_027985
VAR_027985 disease not phenotype-associated
VAR_027986 commonName VAR_027986
VAR_027986 disease not phenotype-associated
VAR_027987 commonName VAR_027987
VAR_027987 disease not phenotype-associated
VAR_027988 commonName VAR_027988
VAR_027988 disease not phenotype-associated
VAR_027989 commonName VAR_027989
VAR_027989 disease not phenotype-associated
VAR_027990 commonName VAR_027990
VAR_027990 disease not phenotype-associated
VAR_027991 commonName VAR_027991
VAR_027991 disease not phenotype-associated
VAR_027992 commonName VAR_027992
VAR_027992 disease not phenotype-associated
VAR_027993 commonName VAR_027993
VAR_027993 disease not phenotype-associated
VAR_027994 commonName VAR_027994
VAR_027994 disease not phenotype-associated
VAR_027995 commonName VAR_027995
VAR_027995 disease not phenotype-associated
VAR_027999 commonName VAR_027999
VAR_027999 disease not phenotype-associated
VAR_028000 commonName VAR_028000
VAR_028000 disease not phenotype-associated
VAR_028001 commonName VAR_028001
VAR_028001 disease not phenotype-associated
VAR_028002 commonName VAR_028002
VAR_028002 disease not phenotype-associated
VAR_028005 commonName VAR_028005
VAR_028005 disease not phenotype-associated
VAR_028006 commonName VAR_028006
VAR_028006 disease not phenotype-associated
VAR_028007 commonName VAR_028007
VAR_028007 disease not phenotype-associated
VAR_028008 commonName VAR_028008
VAR_028008 disease not phenotype-associated
VAR_028010 commonName VAR_028010
VAR_028010 disease not phenotype-associated
VAR_028011 commonName VAR_028011
VAR_028011 disease not phenotype-associated
VAR_028012 commonName VAR_028012
VAR_028012 disease not phenotype-associated
VAR_028013 commonName VAR_028013
VAR_028013 disease not phenotype-associated
VAR_028014 commonName VAR_028014
VAR_028014 disease not phenotype-associated
VAR_028015 commonName VAR_028015
VAR_028015 disease not phenotype-associated
VAR_028017 commonName VAR_028017
VAR_028017 disease not phenotype-associated
VAR_028018 commonName VAR_028018
VAR_028018 disease not phenotype-associated
VAR_028019 commonName VAR_028019
VAR_028019 disease not phenotype-associated
VAR_028020 commonName VAR_028020
VAR_028020 disease not phenotype-associated
VAR_028021 commonName VAR_028021
VAR_028021 disease not phenotype-associated
VAR_028022 commonName VAR_028022
VAR_028022 disease not phenotype-associated
VAR_028023 commonName VAR_028023
VAR_028023 disease not phenotype-associated
VAR_028024 commonName VAR_028024
VAR_028024 disease not phenotype-associated
VAR_028025 commonName VAR_028025
VAR_028025 disease not phenotype-associated
VAR_028026 commonName VAR_028026
VAR_028026 disease not phenotype-associated
VAR_028027 commonName VAR_028027
VAR_028027 disease not phenotype-associated
VAR_028028 commonName VAR_028028
VAR_028028 disease not phenotype-associated
VAR_028029 commonName VAR_028029
VAR_028029 disease not phenotype-associated
VAR_028030 commonName VAR_028030
VAR_028030 disease not phenotype-associated
VAR_028031 commonName VAR_028031
VAR_028031 disease not phenotype-associated
VAR_028032 commonName VAR_028032
VAR_028032 disease not phenotype-associated
VAR_028033 commonName VAR_028033
VAR_028033 disease not phenotype-associated
VAR_028034 commonName VAR_028034
VAR_028034 disease not phenotype-associated
VAR_028035 commonName VAR_028035
VAR_028035 disease not phenotype-associated
VAR_028037 commonName VAR_028037
VAR_028037 disease not phenotype-associated
VAR_028038 commonName VAR_028038
VAR_028038 disease not phenotype-associated
VAR_028039 commonName VAR_028039
VAR_028039 disease not phenotype-associated
VAR_028040 commonName VAR_028040
VAR_028040 disease not phenotype-associated
VAR_028041 commonName VAR_028041
VAR_028041 disease not phenotype-associated
VAR_028042 commonName VAR_028042
VAR_028042 disease not phenotype-associated
VAR_028043 commonName VAR_028043
VAR_028043 disease not phenotype-associated
VAR_028045 commonName VAR_028045
VAR_028045 disease not phenotype-associated
VAR_028046 commonName VAR_028046
VAR_028046 disease not phenotype-associated
VAR_028047 commonName VAR_028047
VAR_028047 disease not phenotype-associated
VAR_028048 commonName VAR_028048
VAR_028048 disease not phenotype-associated
VAR_028049 commonName VAR_028049
VAR_028049 disease not phenotype-associated
VAR_028050 commonName VAR_028050
VAR_028050 disease not phenotype-associated
VAR_028051 commonName VAR_028051
VAR_028051 disease not phenotype-associated
VAR_028052 commonName VAR_028052
VAR_028052 disease not phenotype-associated
VAR_028053 commonName VAR_028053
VAR_028053 disease not phenotype-associated
VAR_028054 commonName VAR_028054
VAR_028054 disease not phenotype-associated
VAR_028055 commonName VAR_028055
VAR_028055 disease not phenotype-associated
VAR_028056 commonName VAR_028056
VAR_028056 disease not phenotype-associated
VAR_028057 commonName VAR_028057
VAR_028057 disease not phenotype-associated
VAR_028058 commonName VAR_028058
VAR_028058 disease not phenotype-associated
VAR_028064 commonName VAR_028064
VAR_028064 disease not phenotype-associated
VAR_028065 commonName VAR_028065
VAR_028065 disease not phenotype-associated
VAR_028067 commonName VAR_028067
VAR_028067 disease not phenotype-associated
VAR_028068 commonName VAR_028068
VAR_028068 disease not phenotype-associated
VAR_028069 commonName VAR_028069
VAR_028069 disease not phenotype-associated
VAR_028071 commonName VAR_028071
VAR_028071 disease not phenotype-associated
VAR_028072 commonName VAR_028072
VAR_028072 disease not phenotype-associated
VAR_028073 commonName VAR_028073
VAR_028073 disease not phenotype-associated
VAR_028074 commonName VAR_028074
VAR_028074 disease not phenotype-associated
VAR_028075 commonName VAR_028075
VAR_028075 disease not phenotype-associated
VAR_028076 commonName VAR_028076
VAR_028076 disease not phenotype-associated
VAR_028077 commonName VAR_028077
VAR_028077 disease not phenotype-associated
VAR_028078 commonName VAR_028078
VAR_028078 disease not phenotype-associated
VAR_028079 commonName VAR_028079
VAR_028079 disease not phenotype-associated
VAR_028080 commonName VAR_028080
VAR_028080 disease not phenotype-associated
VAR_028081 commonName VAR_028081
VAR_028081 disease not phenotype-associated
VAR_028082 commonName VAR_028082
VAR_028082 disease not phenotype-associated
VAR_028083 commonName VAR_028083
VAR_028083 disease not phenotype-associated
VAR_028084 commonName VAR_028084
VAR_028084 disease not phenotype-associated
VAR_028085 commonName VAR_028085
VAR_028085 disease not phenotype-associated
VAR_028086 commonName VAR_028086
VAR_028086 disease not phenotype-associated
VAR_028087 commonName VAR_028087
VAR_028087 disease not phenotype-associated
VAR_028089 commonName VAR_028089
VAR_028089 disease not phenotype-associated
VAR_028090 commonName VAR_028090
VAR_028090 disease not phenotype-associated
VAR_028091 commonName VAR_028091
VAR_028091 disease not phenotype-associated
VAR_028094 commonName VAR_028094
VAR_028094 disease not phenotype-associated
VAR_028095 commonName VAR_028095
VAR_028095 disease not phenotype-associated
VAR_028096 commonName VAR_028096
VAR_028096 disease not phenotype-associated
VAR_028097 commonName VAR_028097
VAR_028097 disease not phenotype-associated
VAR_028098 commonName VAR_028098
VAR_028098 disease not phenotype-associated
VAR_028099 commonName VAR_028099
VAR_028099 disease not phenotype-associated
VAR_028100 commonName VAR_028100
VAR_028100 disease not phenotype-associated
VAR_028101 commonName VAR_028101
VAR_028101 disease not phenotype-associated
VAR_028102 commonName VAR_028102
VAR_028102 disease not phenotype-associated
VAR_028103 commonName VAR_028103
VAR_028103 disease not phenotype-associated
VAR_028104 commonName VAR_028104
VAR_028104 disease not phenotype-associated
VAR_028105 commonName VAR_028105
VAR_028105 disease not phenotype-associated
VAR_028106 commonName VAR_028106
VAR_028106 disease not phenotype-associated
VAR_028107 commonName VAR_028107
VAR_028107 disease not phenotype-associated
VAR_028108 commonName VAR_028108
VAR_028108 disease not phenotype-associated
VAR_028109 commonName VAR_028109
VAR_028109 disease not phenotype-associated
VAR_028110 commonName VAR_028110
VAR_028110 disease not phenotype-associated
VAR_028111 commonName VAR_028111
VAR_028111 disease not phenotype-associated
VAR_028112 commonName VAR_028112
VAR_028112 disease not phenotype-associated
VAR_028113 commonName VAR_028113
VAR_028113 disease not phenotype-associated
VAR_028114 commonName VAR_028114
VAR_028114 disease not phenotype-associated
VAR_028115 commonName VAR_028115
VAR_028115 disease not phenotype-associated
VAR_028116 commonName VAR_028116
VAR_028116 disease not phenotype-associated
VAR_028117 commonName VAR_028117
VAR_028117 disease not phenotype-associated
VAR_028118 commonName VAR_028118
VAR_028118 disease not phenotype-associated
VAR_028119 commonName VAR_028119
VAR_028119 disease not phenotype-associated
VAR_028120 commonName VAR_028120
VAR_028120 disease not phenotype-associated
VAR_028121 commonName VAR_028121
VAR_028121 disease not phenotype-associated
VAR_028122 commonName VAR_028122
VAR_028122 disease not phenotype-associated
VAR_028123 commonName VAR_028123
VAR_028123 disease not phenotype-associated
VAR_028124 commonName VAR_028124
VAR_028124 disease not phenotype-associated
VAR_028125 commonName VAR_028125
VAR_028125 disease not phenotype-associated
VAR_028126 commonName VAR_028126
VAR_028126 disease not phenotype-associated
VAR_028127 commonName VAR_028127
VAR_028127 disease not phenotype-associated
VAR_028128 commonName VAR_028128
VAR_028128 disease not phenotype-associated
VAR_028129 commonName VAR_028129
VAR_028129 disease not phenotype-associated
VAR_028130 commonName VAR_028130
VAR_028130 disease not phenotype-associated
VAR_028131 commonName VAR_028131
VAR_028131 disease not phenotype-associated
VAR_028132 commonName VAR_028132
VAR_028132 disease not phenotype-associated
VAR_028133 commonName VAR_028133
VAR_028133 disease not phenotype-associated
VAR_028134 commonName VAR_028134
VAR_028134 disease not phenotype-associated
VAR_028135 commonName VAR_028135
VAR_028135 disease not phenotype-associated
VAR_028136 commonName VAR_028136
VAR_028136 disease not phenotype-associated
VAR_028138 commonName VAR_028138
VAR_028138 disease not phenotype-associated
VAR_028139 commonName VAR_028139
VAR_028139 disease not phenotype-associated
VAR_028140 commonName VAR_028140
VAR_028140 disease not phenotype-associated
VAR_028141 commonName VAR_028141
VAR_028141 disease not phenotype-associated
VAR_028142 commonName VAR_028142
VAR_028142 disease not phenotype-associated
VAR_028143 commonName VAR_028143
VAR_028143 disease not phenotype-associated
VAR_028144 commonName VAR_028144
VAR_028144 disease not phenotype-associated
VAR_028145 commonName VAR_028145
VAR_028145 disease not phenotype-associated
VAR_028146 commonName VAR_028146
VAR_028146 disease not phenotype-associated
VAR_028147 commonName VAR_028147
VAR_028147 disease not phenotype-associated
VAR_028148 commonName VAR_028148
VAR_028148 disease not phenotype-associated
VAR_028149 commonName VAR_028149
VAR_028149 disease not phenotype-associated
VAR_028150 commonName VAR_028150
VAR_028150 disease not phenotype-associated
VAR_028151 commonName VAR_028151
VAR_028151 disease not phenotype-associated
VAR_028152 commonName VAR_028152
VAR_028152 disease not phenotype-associated
VAR_028153 commonName VAR_028153
VAR_028153 disease not phenotype-associated
VAR_028155 commonName VAR_028155
VAR_028155 disease not phenotype-associated
VAR_028156 commonName VAR_028156
VAR_028156 disease not phenotype-associated
VAR_028157 commonName VAR_028157
VAR_028157 disease not phenotype-associated
VAR_028158 commonName VAR_028158
VAR_028158 disease not phenotype-associated
VAR_028159 commonName VAR_028159
VAR_028159 disease not phenotype-associated
VAR_028160 commonName VAR_028160
VAR_028160 disease not phenotype-associated
VAR_028161 commonName VAR_028161
VAR_028161 disease not phenotype-associated
VAR_028162 commonName VAR_028162
VAR_028162 disease not phenotype-associated
VAR_028164 commonName VAR_028164
VAR_028164 disease not phenotype-associated
VAR_028165 commonName VAR_028165
VAR_028165 disease not phenotype-associated
VAR_028166 commonName VAR_028166
VAR_028166 disease not phenotype-associated
VAR_028167 commonName VAR_028167
VAR_028167 disease phenotype-associated
VAR_028167 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_028168 commonName VAR_028168
VAR_028168 disease phenotype-associated
VAR_028168 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_028169 commonName VAR_028169
VAR_028169 disease phenotype-associated
VAR_028169 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_028170 commonName VAR_028170
VAR_028170 disease not phenotype-associated
VAR_028171 commonName VAR_028171
VAR_028171 disease not phenotype-associated
VAR_028172 commonName VAR_028172
VAR_028172 disease not phenotype-associated
VAR_028173 commonName VAR_028173
VAR_028173 disease not phenotype-associated
VAR_028174 commonName VAR_028174
VAR_028174 disease not phenotype-associated
VAR_028175 commonName VAR_028175
VAR_028175 disease not phenotype-associated
VAR_028176 commonName VAR_028176
VAR_028176 disease not phenotype-associated
VAR_028177 commonName VAR_028177
VAR_028177 disease not phenotype-associated
VAR_028178 commonName VAR_028178
VAR_028178 disease not phenotype-associated
VAR_028179 commonName VAR_028179
VAR_028179 disease not phenotype-associated
VAR_028180 commonName VAR_028180
VAR_028180 disease not phenotype-associated
VAR_028181 commonName VAR_028181
VAR_028181 disease not phenotype-associated
VAR_028182 commonName VAR_028182
VAR_028182 disease not phenotype-associated
VAR_028183 commonName VAR_028183
VAR_028183 disease not phenotype-associated
VAR_028184 commonName VAR_028184
VAR_028184 disease not phenotype-associated
VAR_028185 commonName VAR_028185
VAR_028185 disease not phenotype-associated
VAR_028186 commonName VAR_028186
VAR_028186 disease not phenotype-associated
VAR_028187 commonName VAR_028187
VAR_028187 disease not phenotype-associated
VAR_028188 commonName VAR_028188
VAR_028188 disease not phenotype-associated
VAR_028189 commonName VAR_028189
VAR_028189 disease not phenotype-associated
VAR_028190 commonName VAR_028190
VAR_028190 disease not phenotype-associated
VAR_028191 commonName VAR_028191
VAR_028191 disease not phenotype-associated
VAR_028192 commonName VAR_028192
VAR_028192 disease not phenotype-associated
VAR_028193 commonName VAR_028193
VAR_028193 disease not phenotype-associated
VAR_028194 commonName VAR_028194
VAR_028194 disease not phenotype-associated
VAR_028195 commonName VAR_028195
VAR_028195 disease not phenotype-associated
VAR_028196 commonName VAR_028196
VAR_028196 disease not phenotype-associated
VAR_028197 commonName VAR_028197
VAR_028197 disease not phenotype-associated
VAR_028198 commonName VAR_028198
VAR_028198 disease not phenotype-associated
VAR_028199 commonName VAR_028199
VAR_028199 disease not phenotype-associated
VAR_028200 commonName VAR_028200
VAR_028200 disease not phenotype-associated
VAR_028201 commonName VAR_028201
VAR_028201 disease not phenotype-associated
VAR_028202 commonName VAR_028202
VAR_028202 disease not phenotype-associated
VAR_028203 commonName VAR_028203
VAR_028203 disease not phenotype-associated
VAR_028204 commonName VAR_028204
VAR_028204 disease not phenotype-associated
VAR_028205 commonName VAR_028205
VAR_028205 disease not phenotype-associated
VAR_028206 commonName VAR_028206
VAR_028206 disease not phenotype-associated
VAR_028207 commonName VAR_028207
VAR_028207 disease not phenotype-associated
VAR_028208 commonName VAR_028208
VAR_028208 disease not phenotype-associated
VAR_028209 commonName VAR_028209
VAR_028209 disease not phenotype-associated
VAR_028210 commonName VAR_028210
VAR_028210 disease not phenotype-associated
VAR_028211 commonName VAR_028211
VAR_028211 disease not phenotype-associated
VAR_028212 commonName VAR_028212
VAR_028212 disease not phenotype-associated
VAR_028213 commonName VAR_028213
VAR_028213 disease not phenotype-associated
VAR_028214 commonName VAR_028214
VAR_028214 disease not phenotype-associated
VAR_028215 commonName VAR_028215
VAR_028215 disease not phenotype-associated
VAR_028216 commonName VAR_028216
VAR_028216 disease not phenotype-associated
VAR_028217 commonName VAR_028217
VAR_028217 disease not phenotype-associated
VAR_028218 commonName VAR_028218
VAR_028218 disease not phenotype-associated
VAR_028219 commonName VAR_028219
VAR_028219 disease not phenotype-associated
VAR_028220 commonName VAR_028220
VAR_028220 disease not phenotype-associated
VAR_028221 commonName VAR_028221
VAR_028221 disease not phenotype-associated
VAR_028222 commonName VAR_028222
VAR_028222 disease not phenotype-associated
VAR_028223 commonName VAR_028223
VAR_028223 disease not phenotype-associated
VAR_028224 commonName VAR_028224
VAR_028224 disease not phenotype-associated
VAR_028225 commonName VAR_028225
VAR_028225 disease not phenotype-associated
VAR_028226 commonName VAR_028226
VAR_028226 disease not phenotype-associated
VAR_028227 commonName VAR_028227
VAR_028227 disease not phenotype-associated
VAR_028228 commonName VAR_028228
VAR_028228 disease not phenotype-associated
VAR_028229 commonName VAR_028229
VAR_028229 disease not phenotype-associated
VAR_028230 commonName VAR_028230
VAR_028230 disease not phenotype-associated
VAR_028231 commonName VAR_028231
VAR_028231 disease not phenotype-associated
VAR_028232 commonName VAR_028232
VAR_028232 disease not phenotype-associated
VAR_028234 commonName VAR_028234
VAR_028234 disease not phenotype-associated
VAR_028235 commonName VAR_028235
VAR_028235 disease not phenotype-associated
VAR_028236 commonName VAR_028236
VAR_028236 disease not phenotype-associated
VAR_028237 commonName VAR_028237
VAR_028237 disease not phenotype-associated
VAR_028239 commonName VAR_028239
VAR_028239 disease not phenotype-associated
VAR_028240 commonName VAR_028240
VAR_028240 disease not phenotype-associated
VAR_028241 commonName VAR_028241
VAR_028241 disease not phenotype-associated
VAR_028242 commonName VAR_028242
VAR_028242 disease not phenotype-associated
VAR_028243 commonName VAR_028243
VAR_028243 disease not phenotype-associated
VAR_028244 commonName VAR_028244
VAR_028244 disease not phenotype-associated
VAR_028245 commonName VAR_028245
VAR_028245 disease not phenotype-associated
VAR_028246 commonName VAR_028246
VAR_028246 disease not phenotype-associated
VAR_028247 commonName VAR_028247
VAR_028247 disease not phenotype-associated
VAR_028248 commonName VAR_028248
VAR_028248 disease not phenotype-associated
VAR_028249 commonName VAR_028249
VAR_028249 disease not phenotype-associated
VAR_028250 commonName VAR_028250
VAR_028250 disease not phenotype-associated
VAR_028251 commonName VAR_028251
VAR_028251 disease not phenotype-associated
VAR_028252 commonName VAR_028252
VAR_028252 disease not phenotype-associated
VAR_028253 commonName VAR_028253
VAR_028253 disease not phenotype-associated
VAR_028254 commonName VAR_028254
VAR_028254 disease not phenotype-associated
VAR_028255 commonName VAR_028255
VAR_028255 disease not phenotype-associated
VAR_028256 commonName VAR_028256
VAR_028256 disease not phenotype-associated
VAR_028257 commonName VAR_028257
VAR_028257 disease not phenotype-associated
VAR_028258 commonName VAR_028258
VAR_028258 disease not phenotype-associated
VAR_028259 commonName VAR_028259
VAR_028259 disease not phenotype-associated
VAR_028260 commonName VAR_028260
VAR_028260 disease not phenotype-associated
VAR_028261 commonName VAR_028261
VAR_028261 disease not phenotype-associated
VAR_028262 commonName VAR_028262
VAR_028262 disease not phenotype-associated
VAR_028263 commonName VAR_028263
VAR_028263 disease not phenotype-associated
VAR_028264 commonName VAR_028264
VAR_028264 disease not phenotype-associated
VAR_028265 commonName VAR_028265
VAR_028265 disease not phenotype-associated
VAR_028266 commonName VAR_028266
VAR_028266 disease not phenotype-associated
VAR_028267 commonName VAR_028267
VAR_028267 disease not phenotype-associated
VAR_028268 commonName VAR_028268
VAR_028268 disease not phenotype-associated
VAR_028269 commonName VAR_028269
VAR_028269 disease not phenotype-associated
VAR_028270 commonName VAR_028270
VAR_028270 disease not phenotype-associated
VAR_028271 commonName VAR_028271
VAR_028271 disease not phenotype-associated
VAR_028272 commonName VAR_028272
VAR_028272 disease not phenotype-associated
VAR_028273 commonName VAR_028273
VAR_028273 disease not phenotype-associated
VAR_028275 commonName VAR_028275
VAR_028275 disease not phenotype-associated
VAR_028276 commonName VAR_028276
VAR_028276 disease not phenotype-associated
VAR_028278 commonName VAR_028278
VAR_028278 disease not phenotype-associated
VAR_028279 commonName VAR_028279
VAR_028279 disease not phenotype-associated
VAR_028280 commonName VAR_028280
VAR_028280 disease not phenotype-associated
VAR_028281 commonName VAR_028281
VAR_028281 disease not phenotype-associated
VAR_028282 commonName VAR_028282
VAR_028282 disease not phenotype-associated
VAR_028283 commonName VAR_028283
VAR_028283 disease not phenotype-associated
VAR_028284 commonName VAR_028284
VAR_028284 disease not phenotype-associated
VAR_028285 commonName VAR_028285
VAR_028285 disease not phenotype-associated
VAR_028286 commonName VAR_028286
VAR_028286 disease not phenotype-associated
VAR_028287 commonName VAR_028287
VAR_028287 disease not phenotype-associated
VAR_028288 commonName VAR_028288
VAR_028288 disease not phenotype-associated
VAR_028289 commonName VAR_028289
VAR_028289 disease not phenotype-associated
VAR_028290 commonName VAR_028290
VAR_028290 disease not phenotype-associated
VAR_028291 commonName VAR_028291
VAR_028291 disease not phenotype-associated
VAR_028292 commonName VAR_028292
VAR_028292 disease not phenotype-associated
VAR_028293 commonName VAR_028293
VAR_028293 disease not phenotype-associated
VAR_028294 commonName VAR_028294
VAR_028294 disease not phenotype-associated
VAR_028295 commonName VAR_028295
VAR_028295 disease not phenotype-associated
VAR_028296 commonName VAR_028296
VAR_028296 disease not phenotype-associated
VAR_028299 commonName VAR_028299
VAR_028299 disease not phenotype-associated
VAR_028300 commonName VAR_028300
VAR_028300 disease not phenotype-associated
VAR_028301 commonName VAR_028301
VAR_028301 disease not phenotype-associated
VAR_028302 commonName VAR_028302
VAR_028302 disease not phenotype-associated
VAR_028303 commonName VAR_028303
VAR_028303 disease not phenotype-associated
VAR_028304 commonName VAR_028304
VAR_028304 disease not phenotype-associated
VAR_028305 commonName VAR_028305
VAR_028305 disease not phenotype-associated
VAR_028306 commonName VAR_028306
VAR_028306 disease not phenotype-associated
VAR_028307 commonName VAR_028307
VAR_028307 disease not phenotype-associated
VAR_028308 commonName VAR_028308
VAR_028308 disease not phenotype-associated
VAR_028309 commonName VAR_028309
VAR_028309 disease not phenotype-associated
VAR_028310 commonName VAR_028310
VAR_028310 disease not phenotype-associated
VAR_028311 commonName VAR_028311
VAR_028311 disease not phenotype-associated
VAR_028312 commonName VAR_028312
VAR_028312 disease not phenotype-associated
VAR_028313 commonName VAR_028313
VAR_028313 disease not phenotype-associated
VAR_028314 commonName VAR_028314
VAR_028314 disease not phenotype-associated
VAR_028315 commonName VAR_028315
VAR_028315 disease not phenotype-associated
VAR_028316 commonName VAR_028316
VAR_028316 disease not phenotype-associated
VAR_028317 commonName VAR_028317
VAR_028317 disease not phenotype-associated
VAR_028318 commonName VAR_028318
VAR_028318 disease not phenotype-associated
VAR_028319 commonName VAR_028319
VAR_028319 disease phenotype-associated
VAR_028319 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]
VAR_028319 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_028321 commonName VAR_028321
VAR_028321 disease phenotype-associated
VAR_028321 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]
VAR_028322 commonName VAR_028322
VAR_028322 disease phenotype-associated
VAR_028322 phenoCommon Cone-rod dystrophy type 10 (CORD10) [MIM:610283]
VAR_028322 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282]
VAR_028323 commonName VAR_028323
VAR_028323 disease phenotype-associated
VAR_028323 phenoCommon Cone-rod dystrophy type 10 (CORD10) [MIM:610283]
VAR_028323 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282]
VAR_028324 commonName VAR_028324
VAR_028324 disease not phenotype-associated
VAR_028325 commonName VAR_028325
VAR_028325 disease phenotype-associated
VAR_028325 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282]
VAR_028326 commonName VAR_028326
VAR_028326 disease phenotype-associated
VAR_028326 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028327 commonName VAR_028327
VAR_028327 disease phenotype-associated
VAR_028327 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028328 commonName VAR_028328
VAR_028328 disease phenotype-associated
VAR_028328 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028329 commonName VAR_028329
VAR_028329 disease phenotype-associated
VAR_028329 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028330 commonName VAR_028330
VAR_028330 disease phenotype-associated
VAR_028330 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028331 commonName VAR_028331
VAR_028331 disease phenotype-associated
VAR_028331 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028332 commonName VAR_028332
VAR_028332 disease phenotype-associated
VAR_028332 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028333 commonName VAR_028333
VAR_028333 disease phenotype-associated
VAR_028333 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]
VAR_028334 commonName VAR_028334
VAR_028334 disease not phenotype-associated
VAR_028335 commonName VAR_028335
VAR_028335 disease phenotype-associated
VAR_028335 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028336 commonName VAR_028336
VAR_028336 disease phenotype-associated
VAR_028336 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028337 commonName VAR_028337
VAR_028337 disease phenotype-associated
VAR_028337 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028338 commonName VAR_028338
VAR_028338 disease phenotype-associated
VAR_028338 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028339 commonName VAR_028339
VAR_028339 disease phenotype-associated
VAR_028339 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028340 commonName VAR_028340
VAR_028340 disease phenotype-associated
VAR_028340 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028341 commonName VAR_028341
VAR_028341 disease phenotype-associated
VAR_028341 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028342 commonName VAR_028342
VAR_028342 disease phenotype-associated
VAR_028342 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028343 commonName VAR_028343
VAR_028343 disease phenotype-associated
VAR_028343 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]
VAR_028343 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028344 commonName VAR_028344
VAR_028344 disease phenotype-associated
VAR_028344 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028345 commonName VAR_028345
VAR_028345 disease phenotype-associated
VAR_028345 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028346 commonName VAR_028346
VAR_028346 disease phenotype-associated
VAR_028346 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028347 commonName VAR_028347
VAR_028348 commonName VAR_028348
VAR_028348 disease phenotype-associated
VAR_028348 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028349 commonName VAR_028349
VAR_028349 disease phenotype-associated
VAR_028349 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028350 commonName VAR_028350
VAR_028350 disease phenotype-associated
VAR_028350 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028351 commonName VAR_028351
VAR_028351 disease phenotype-associated
VAR_028351 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028352 commonName VAR_028352
VAR_028352 disease phenotype-associated
VAR_028352 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028353 commonName VAR_028353
VAR_028353 disease phenotype-associated
VAR_028353 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]
VAR_028354 commonName VAR_028354
VAR_028354 disease phenotype-associated
VAR_028354 phenoCommon Cold-induced sweating syndrome type 2 (CISS2) [MIM:610313]
VAR_028355 commonName VAR_028355
VAR_028355 disease not phenotype-associated
VAR_028356 commonName VAR_028356
VAR_028356 disease phenotype-associated
VAR_028356 phenoCommon Joubert syndrome type 5 (JBTS5) [MIM:610188]
VAR_028356 phenoCommon Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]
VAR_028359 commonName VAR_028359
VAR_028359 disease not phenotype-associated
VAR_028360 commonName VAR_028360
VAR_028360 disease not phenotype-associated
VAR_028361 commonName VAR_028361
VAR_028361 disease not phenotype-associated
VAR_028362 commonName VAR_028362
VAR_028362 disease not phenotype-associated
VAR_028363 commonName VAR_028363
VAR_028363 disease not phenotype-associated
VAR_028364 commonName VAR_028364
VAR_028364 disease not phenotype-associated
VAR_028366 commonName VAR_028366
VAR_028366 disease not phenotype-associated
VAR_028367 commonName VAR_028367
VAR_028367 disease not phenotype-associated
VAR_028368 commonName VAR_028368
VAR_028368 disease not phenotype-associated
VAR_028369 commonName VAR_028369
VAR_028369 disease not phenotype-associated
VAR_028370 commonName VAR_028370
VAR_028370 disease phenotype-associated
VAR_028370 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_028371 commonName VAR_028371
VAR_028371 disease not phenotype-associated
VAR_028372 commonName VAR_028372
VAR_028372 disease not phenotype-associated
VAR_028373 commonName VAR_028373
VAR_028373 disease not phenotype-associated
VAR_028374 commonName VAR_028374
VAR_028374 disease not phenotype-associated
VAR_028375 commonName VAR_028375
VAR_028375 disease not phenotype-associated
VAR_028376 commonName VAR_028376
VAR_028376 disease not phenotype-associated
VAR_028377 commonName VAR_028377
VAR_028377 disease not phenotype-associated
VAR_028378 commonName VAR_028378
VAR_028378 disease not phenotype-associated
VAR_028379 commonName VAR_028379
VAR_028379 disease not phenotype-associated
VAR_028380 commonName VAR_028380
VAR_028380 disease not phenotype-associated
VAR_028381 commonName VAR_028381
VAR_028381 disease not phenotype-associated
VAR_028382 commonName VAR_028382
VAR_028382 disease not phenotype-associated
VAR_028383 commonName VAR_028383
VAR_028383 disease not phenotype-associated
VAR_028384 commonName VAR_028384
VAR_028384 disease not phenotype-associated
VAR_028385 commonName VAR_028385
VAR_028385 disease not phenotype-associated
VAR_028386 commonName VAR_028386
VAR_028386 disease not phenotype-associated
VAR_028387 commonName VAR_028387
VAR_028387 disease not phenotype-associated
VAR_028388 commonName VAR_028388
VAR_028388 disease not phenotype-associated
VAR_028389 commonName VAR_028389
VAR_028389 disease not phenotype-associated
VAR_028390 commonName VAR_028390
VAR_028390 disease not phenotype-associated
VAR_028391 commonName VAR_028391
VAR_028391 disease not phenotype-associated
VAR_028392 commonName VAR_028392
VAR_028392 disease not phenotype-associated
VAR_028393 commonName VAR_028393
VAR_028393 disease not phenotype-associated
VAR_028394 commonName VAR_028394
VAR_028394 disease not phenotype-associated
VAR_028395 commonName VAR_028395
VAR_028395 disease not phenotype-associated
VAR_028396 commonName VAR_028396
VAR_028396 disease not phenotype-associated
VAR_028397 commonName VAR_028397
VAR_028397 disease not phenotype-associated
VAR_028398 commonName VAR_028398
VAR_028398 disease not phenotype-associated
VAR_028399 commonName VAR_028399
VAR_028399 disease not phenotype-associated
VAR_028400 commonName VAR_028400
VAR_028400 disease not phenotype-associated
VAR_028402 commonName VAR_028402
VAR_028402 disease not phenotype-associated
VAR_028403 commonName VAR_028403
VAR_028403 disease not phenotype-associated
VAR_028404 commonName VAR_028404
VAR_028404 disease not phenotype-associated
VAR_028405 commonName VAR_028405
VAR_028405 disease not phenotype-associated
VAR_028406 commonName VAR_028406
VAR_028406 disease not phenotype-associated
VAR_028407 commonName VAR_028407
VAR_028407 disease not phenotype-associated
VAR_028408 commonName VAR_028408
VAR_028408 disease not phenotype-associated
VAR_028409 commonName VAR_028409
VAR_028409 disease not phenotype-associated
VAR_028410 commonName VAR_028410
VAR_028410 disease not phenotype-associated
VAR_028411 commonName VAR_028411
VAR_028411 disease not phenotype-associated
VAR_028412 commonName VAR_028412
VAR_028412 disease not phenotype-associated
VAR_028413 commonName VAR_028413
VAR_028413 disease not phenotype-associated
VAR_028414 commonName VAR_028414
VAR_028414 disease not phenotype-associated
VAR_028415 commonName VAR_028415
VAR_028415 disease not phenotype-associated
VAR_028416 commonName VAR_028416
VAR_028416 disease not phenotype-associated
VAR_028417 commonName VAR_028417
VAR_028417 disease not phenotype-associated
VAR_028418 commonName VAR_028418
VAR_028418 disease not phenotype-associated
VAR_028419 commonName VAR_028419
VAR_028419 disease not phenotype-associated
VAR_028420 commonName VAR_028420
VAR_028420 disease not phenotype-associated
VAR_028421 commonName VAR_028421
VAR_028421 disease not phenotype-associated
VAR_028422 commonName VAR_028422
VAR_028422 disease not phenotype-associated
VAR_028423 commonName VAR_028423
VAR_028423 disease not phenotype-associated
VAR_028424 commonName VAR_028424
VAR_028424 disease not phenotype-associated
VAR_028425 commonName VAR_028425
VAR_028425 disease not phenotype-associated
VAR_028426 commonName VAR_028426
VAR_028426 disease not phenotype-associated
VAR_028427 commonName VAR_028427
VAR_028427 disease not phenotype-associated
VAR_028428 commonName VAR_028428
VAR_028428 disease not phenotype-associated
VAR_028429 commonName VAR_028429
VAR_028429 disease not phenotype-associated
VAR_028430 commonName VAR_028430
VAR_028430 disease not phenotype-associated
VAR_028431 commonName VAR_028431
VAR_028431 disease not phenotype-associated
VAR_028432 commonName VAR_028432
VAR_028432 disease not phenotype-associated
VAR_028433 commonName VAR_028433
VAR_028433 disease not phenotype-associated
VAR_028434 commonName VAR_028434
VAR_028434 disease not phenotype-associated
VAR_028435 commonName VAR_028435
VAR_028435 disease not phenotype-associated
VAR_028436 commonName VAR_028436
VAR_028436 disease not phenotype-associated
VAR_028437 commonName VAR_028437
VAR_028437 disease not phenotype-associated
VAR_028438 commonName VAR_028438
VAR_028438 disease not phenotype-associated
VAR_028439 commonName VAR_028439
VAR_028439 disease not phenotype-associated
VAR_028440 commonName VAR_028440
VAR_028440 disease not phenotype-associated
VAR_028441 commonName VAR_028441
VAR_028441 disease not phenotype-associated
VAR_028442 commonName VAR_028442
VAR_028442 disease not phenotype-associated
VAR_028443 commonName VAR_028443
VAR_028443 disease not phenotype-associated
VAR_028444 commonName VAR_028444
VAR_028444 disease phenotype-associated
VAR_028444 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_028445 commonName VAR_028445
VAR_028445 disease not phenotype-associated
VAR_028446 commonName VAR_028446
VAR_028446 disease phenotype-associated
VAR_028446 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_028447 commonName VAR_028447
VAR_028447 disease phenotype-associated
VAR_028447 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028448 commonName VAR_028448
VAR_028448 disease phenotype-associated
VAR_028448 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028449 commonName VAR_028449
VAR_028449 disease phenotype-associated
VAR_028449 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028450 commonName VAR_028450
VAR_028450 disease phenotype-associated
VAR_028450 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028451 commonName VAR_028451
VAR_028451 disease phenotype-associated
VAR_028451 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028452 commonName VAR_028452
VAR_028452 disease phenotype-associated
VAR_028452 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028453 commonName VAR_028453
VAR_028453 disease phenotype-associated
VAR_028453 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028454 commonName VAR_028454
VAR_028454 disease phenotype-associated
VAR_028454 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028455 commonName VAR_028455
VAR_028455 disease phenotype-associated
VAR_028455 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028456 commonName VAR_028456
VAR_028456 disease phenotype-associated
VAR_028456 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028457 commonName VAR_028457
VAR_028457 disease phenotype-associated
VAR_028457 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028458 commonName VAR_028458
VAR_028458 disease phenotype-associated
VAR_028458 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028459 commonName VAR_028459
VAR_028459 disease phenotype-associated
VAR_028459 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028460 commonName VAR_028460
VAR_028460 disease phenotype-associated
VAR_028460 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028463 commonName VAR_028463
VAR_028463 disease phenotype-associated
VAR_028463 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028464 commonName VAR_028464
VAR_028464 disease phenotype-associated
VAR_028464 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028465 commonName VAR_028465
VAR_028465 disease phenotype-associated
VAR_028465 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028466 commonName VAR_028466
VAR_028466 disease phenotype-associated
VAR_028466 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028467 commonName VAR_028467
VAR_028467 disease phenotype-associated
VAR_028467 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028468 commonName VAR_028468
VAR_028468 disease phenotype-associated
VAR_028468 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028469 commonName VAR_028469
VAR_028469 disease phenotype-associated
VAR_028469 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028470 commonName VAR_028470
VAR_028470 disease phenotype-associated
VAR_028470 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028471 commonName VAR_028471
VAR_028471 disease phenotype-associated
VAR_028471 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028472 commonName VAR_028472
VAR_028472 disease phenotype-associated
VAR_028472 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028473 commonName VAR_028473
VAR_028473 disease phenotype-associated
VAR_028473 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028474 commonName VAR_028474
VAR_028474 disease phenotype-associated
VAR_028474 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028475 commonName VAR_028475
VAR_028475 disease phenotype-associated
VAR_028475 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028476 commonName VAR_028476
VAR_028476 disease phenotype-associated
VAR_028476 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028477 commonName VAR_028477
VAR_028477 disease phenotype-associated
VAR_028477 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028478 commonName VAR_028478
VAR_028478 disease phenotype-associated
VAR_028478 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028479 commonName VAR_028479
VAR_028479 disease phenotype-associated
VAR_028479 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028480 commonName VAR_028480
VAR_028480 disease phenotype-associated
VAR_028480 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028481 commonName VAR_028481
VAR_028481 disease phenotype-associated
VAR_028481 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028482 commonName VAR_028482
VAR_028482 disease phenotype-associated
VAR_028482 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028483 commonName VAR_028483
VAR_028483 disease phenotype-associated
VAR_028483 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028484 commonName VAR_028484
VAR_028484 disease phenotype-associated
VAR_028484 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028485 commonName VAR_028485
VAR_028485 disease phenotype-associated
VAR_028485 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028486 commonName VAR_028486
VAR_028486 disease phenotype-associated
VAR_028486 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028487 commonName VAR_028487
VAR_028487 disease phenotype-associated
VAR_028487 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028488 commonName VAR_028488
VAR_028488 disease phenotype-associated
VAR_028488 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028489 commonName VAR_028489
VAR_028489 disease phenotype-associated
VAR_028489 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028490 commonName VAR_028490
VAR_028490 disease phenotype-associated
VAR_028490 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028491 commonName VAR_028491
VAR_028491 disease phenotype-associated
VAR_028491 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028492 commonName VAR_028492
VAR_028492 disease phenotype-associated
VAR_028492 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028493 commonName VAR_028493
VAR_028493 disease phenotype-associated
VAR_028493 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028494 commonName VAR_028494
VAR_028494 disease phenotype-associated
VAR_028494 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028495 commonName VAR_028495
VAR_028495 disease phenotype-associated
VAR_028495 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028496 commonName VAR_028496
VAR_028496 disease phenotype-associated
VAR_028496 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028497 commonName VAR_028497
VAR_028497 disease phenotype-associated
VAR_028497 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028498 commonName VAR_028498
VAR_028498 disease phenotype-associated
VAR_028498 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028499 commonName VAR_028499
VAR_028499 disease phenotype-associated
VAR_028499 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028500 commonName VAR_028500
VAR_028500 disease phenotype-associated
VAR_028500 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028501 commonName VAR_028501
VAR_028501 disease phenotype-associated
VAR_028501 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028502 commonName VAR_028502
VAR_028502 disease phenotype-associated
VAR_028502 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028503 commonName VAR_028503
VAR_028503 disease phenotype-associated
VAR_028503 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028504 commonName VAR_028504
VAR_028504 disease phenotype-associated
VAR_028504 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028505 commonName VAR_028505
VAR_028505 disease phenotype-associated
VAR_028505 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028506 commonName VAR_028506
VAR_028506 disease phenotype-associated
VAR_028506 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028507 commonName VAR_028507
VAR_028507 disease phenotype-associated
VAR_028507 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028508 commonName VAR_028508
VAR_028508 disease phenotype-associated
VAR_028508 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028510 commonName VAR_028510
VAR_028510 disease phenotype-associated
VAR_028510 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028511 commonName VAR_028511
VAR_028511 disease phenotype-associated
VAR_028511 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028512 commonName VAR_028512
VAR_028512 disease phenotype-associated
VAR_028512 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028513 commonName VAR_028513
VAR_028513 disease phenotype-associated
VAR_028513 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028515 commonName VAR_028515
VAR_028515 disease phenotype-associated
VAR_028515 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028516 commonName VAR_028516
VAR_028516 disease phenotype-associated
VAR_028516 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028517 commonName VAR_028517
VAR_028517 disease phenotype-associated
VAR_028517 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028518 commonName VAR_028518
VAR_028518 disease phenotype-associated
VAR_028518 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028519 commonName VAR_028519
VAR_028519 disease phenotype-associated
VAR_028519 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028520 commonName VAR_028520
VAR_028520 disease phenotype-associated
VAR_028520 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028521 commonName VAR_028521
VAR_028521 disease phenotype-associated
VAR_028521 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028522 commonName VAR_028522
VAR_028522 disease phenotype-associated
VAR_028522 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028523 commonName VAR_028523
VAR_028523 disease phenotype-associated
VAR_028523 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028524 commonName VAR_028524
VAR_028524 disease phenotype-associated
VAR_028524 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028525 commonName VAR_028525
VAR_028525 disease phenotype-associated
VAR_028525 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028526 commonName VAR_028526
VAR_028526 disease phenotype-associated
VAR_028526 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028527 commonName VAR_028527
VAR_028527 disease phenotype-associated
VAR_028527 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028528 commonName VAR_028528
VAR_028528 disease phenotype-associated
VAR_028528 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028529 commonName VAR_028529
VAR_028529 disease phenotype-associated
VAR_028529 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028530 commonName VAR_028530
VAR_028530 disease phenotype-associated
VAR_028530 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028531 commonName VAR_028531
VAR_028531 disease phenotype-associated
VAR_028531 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028532 commonName VAR_028532
VAR_028532 disease phenotype-associated
VAR_028532 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028533 commonName VAR_028533
VAR_028533 disease phenotype-associated
VAR_028533 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028534 commonName VAR_028534
VAR_028534 disease phenotype-associated
VAR_028534 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028535 commonName VAR_028535
VAR_028535 disease phenotype-associated
VAR_028535 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028536 commonName VAR_028536
VAR_028536 disease phenotype-associated
VAR_028536 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028537 commonName VAR_028537
VAR_028537 disease phenotype-associated
VAR_028537 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028538 commonName VAR_028538
VAR_028538 disease phenotype-associated
VAR_028538 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028539 commonName VAR_028539
VAR_028539 disease phenotype-associated
VAR_028539 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028540 commonName VAR_028540
VAR_028540 disease phenotype-associated
VAR_028540 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028541 commonName VAR_028541
VAR_028541 disease phenotype-associated
VAR_028541 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028542 commonName VAR_028542
VAR_028542 disease phenotype-associated
VAR_028542 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028543 commonName VAR_028543
VAR_028543 disease phenotype-associated
VAR_028543 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028544 commonName VAR_028544
VAR_028544 disease phenotype-associated
VAR_028544 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028545 commonName VAR_028545
VAR_028545 disease phenotype-associated
VAR_028545 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028546 commonName VAR_028546
VAR_028546 disease phenotype-associated
VAR_028546 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028547 commonName VAR_028547
VAR_028547 disease phenotype-associated
VAR_028547 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028548 commonName VAR_028548
VAR_028548 disease phenotype-associated
VAR_028548 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028549 commonName VAR_028549
VAR_028549 disease phenotype-associated
VAR_028549 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028550 commonName VAR_028550
VAR_028550 disease phenotype-associated
VAR_028550 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028551 commonName VAR_028551
VAR_028551 disease phenotype-associated
VAR_028551 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028552 commonName VAR_028552
VAR_028552 disease phenotype-associated
VAR_028552 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028553 commonName VAR_028553
VAR_028553 disease phenotype-associated
VAR_028553 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028554 commonName VAR_028554
VAR_028554 disease phenotype-associated
VAR_028554 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028555 commonName VAR_028555
VAR_028555 disease phenotype-associated
VAR_028555 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028556 commonName VAR_028556
VAR_028556 disease phenotype-associated
VAR_028556 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028557 commonName VAR_028557
VAR_028557 disease phenotype-associated
VAR_028557 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028558 commonName VAR_028558
VAR_028558 disease phenotype-associated
VAR_028558 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028559 commonName VAR_028559
VAR_028559 disease phenotype-associated
VAR_028559 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028560 commonName VAR_028560
VAR_028560 disease phenotype-associated
VAR_028560 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028561 commonName VAR_028561
VAR_028561 disease phenotype-associated
VAR_028561 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028562 commonName VAR_028562
VAR_028562 disease phenotype-associated
VAR_028562 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028563 commonName VAR_028563
VAR_028563 disease phenotype-associated
VAR_028563 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028564 commonName VAR_028564
VAR_028564 disease phenotype-associated
VAR_028564 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028565 commonName VAR_028565
VAR_028565 disease phenotype-associated
VAR_028565 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028566 commonName VAR_028566
VAR_028566 disease phenotype-associated
VAR_028566 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028567 commonName VAR_028567
VAR_028567 disease phenotype-associated
VAR_028567 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028568 commonName VAR_028568
VAR_028568 disease phenotype-associated
VAR_028568 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028569 commonName VAR_028569
VAR_028569 disease phenotype-associated
VAR_028569 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028570 commonName VAR_028570
VAR_028570 disease phenotype-associated
VAR_028570 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028571 commonName VAR_028571
VAR_028571 disease phenotype-associated
VAR_028571 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028572 commonName VAR_028572
VAR_028572 disease phenotype-associated
VAR_028572 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028573 commonName VAR_028573
VAR_028573 disease phenotype-associated
VAR_028573 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028574 commonName VAR_028574
VAR_028574 disease phenotype-associated
VAR_028574 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028575 commonName VAR_028575
VAR_028575 disease phenotype-associated
VAR_028575 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028576 commonName VAR_028576
VAR_028576 disease phenotype-associated
VAR_028576 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028577 commonName VAR_028577
VAR_028577 disease phenotype-associated
VAR_028577 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028578 commonName VAR_028578
VAR_028578 disease phenotype-associated
VAR_028578 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028579 commonName VAR_028579
VAR_028579 disease phenotype-associated
VAR_028579 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028580 commonName VAR_028580
VAR_028580 disease phenotype-associated
VAR_028580 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028581 commonName VAR_028581
VAR_028581 disease phenotype-associated
VAR_028581 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028582 commonName VAR_028582
VAR_028582 disease phenotype-associated
VAR_028582 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028583 commonName VAR_028583
VAR_028583 disease phenotype-associated
VAR_028583 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028584 commonName VAR_028584
VAR_028584 disease phenotype-associated
VAR_028584 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028585 commonName VAR_028585
VAR_028585 disease phenotype-associated
VAR_028585 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028586 commonName VAR_028586
VAR_028586 disease phenotype-associated
VAR_028586 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028587 commonName VAR_028587
VAR_028587 disease phenotype-associated
VAR_028587 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028588 commonName VAR_028588
VAR_028588 disease phenotype-associated
VAR_028588 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028589 commonName VAR_028589
VAR_028589 disease phenotype-associated
VAR_028589 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028590 commonName VAR_028590
VAR_028590 disease phenotype-associated
VAR_028590 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028591 commonName VAR_028591
VAR_028591 disease phenotype-associated
VAR_028591 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028592 commonName VAR_028592
VAR_028592 disease phenotype-associated
VAR_028592 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028593 commonName VAR_028593
VAR_028593 disease phenotype-associated
VAR_028593 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028594 commonName VAR_028594
VAR_028594 disease phenotype-associated
VAR_028594 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028595 commonName VAR_028595
VAR_028595 disease phenotype-associated
VAR_028595 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028596 commonName VAR_028596
VAR_028596 disease phenotype-associated
VAR_028596 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028597 commonName VAR_028597
VAR_028597 disease phenotype-associated
VAR_028597 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028598 commonName VAR_028598
VAR_028598 disease phenotype-associated
VAR_028598 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028599 commonName VAR_028599
VAR_028599 disease phenotype-associated
VAR_028599 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028600 commonName VAR_028600
VAR_028600 disease phenotype-associated
VAR_028600 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028601 commonName VAR_028601
VAR_028601 disease phenotype-associated
VAR_028601 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028602 commonName VAR_028602
VAR_028602 disease phenotype-associated
VAR_028602 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028603 commonName VAR_028603
VAR_028603 disease phenotype-associated
VAR_028603 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028604 commonName VAR_028604
VAR_028604 disease phenotype-associated
VAR_028604 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028605 commonName VAR_028605
VAR_028605 disease phenotype-associated
VAR_028605 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028606 commonName VAR_028606
VAR_028606 disease phenotype-associated
VAR_028606 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028607 commonName VAR_028607
VAR_028607 disease phenotype-associated
VAR_028607 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028608 commonName VAR_028608
VAR_028608 disease phenotype-associated
VAR_028608 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028609 commonName VAR_028609
VAR_028609 disease phenotype-associated
VAR_028609 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028610 commonName VAR_028610
VAR_028610 disease phenotype-associated
VAR_028610 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028611 commonName VAR_028611
VAR_028611 disease phenotype-associated
VAR_028611 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028612 commonName VAR_028612
VAR_028612 disease phenotype-associated
VAR_028612 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028613 commonName VAR_028613
VAR_028613 disease phenotype-associated
VAR_028613 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028614 commonName VAR_028614
VAR_028614 disease phenotype-associated
VAR_028614 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028615 commonName VAR_028615
VAR_028615 disease phenotype-associated
VAR_028615 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028616 commonName VAR_028616
VAR_028616 disease phenotype-associated
VAR_028616 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028617 commonName VAR_028617
VAR_028617 disease phenotype-associated
VAR_028617 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028618 commonName VAR_028618
VAR_028618 disease phenotype-associated
VAR_028618 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028619 commonName VAR_028619
VAR_028619 disease phenotype-associated
VAR_028619 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028620 commonName VAR_028620
VAR_028620 disease phenotype-associated
VAR_028620 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028621 commonName VAR_028621
VAR_028621 disease phenotype-associated
VAR_028621 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028622 commonName VAR_028622
VAR_028622 disease phenotype-associated
VAR_028622 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028623 commonName VAR_028623
VAR_028623 disease phenotype-associated
VAR_028623 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028624 commonName VAR_028624
VAR_028624 disease phenotype-associated
VAR_028624 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028625 commonName VAR_028625
VAR_028625 disease phenotype-associated
VAR_028625 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028626 commonName VAR_028626
VAR_028626 disease phenotype-associated
VAR_028626 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028627 commonName VAR_028627
VAR_028627 disease phenotype-associated
VAR_028627 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028628 commonName VAR_028628
VAR_028628 disease phenotype-associated
VAR_028628 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028629 commonName VAR_028629
VAR_028629 disease phenotype-associated
VAR_028629 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028630 commonName VAR_028630
VAR_028630 disease phenotype-associated
VAR_028630 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028631 commonName VAR_028631
VAR_028631 disease phenotype-associated
VAR_028631 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028632 commonName VAR_028632
VAR_028632 disease phenotype-associated
VAR_028632 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028633 commonName VAR_028633
VAR_028633 disease phenotype-associated
VAR_028633 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028634 commonName VAR_028634
VAR_028634 disease phenotype-associated
VAR_028634 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028635 commonName VAR_028635
VAR_028635 disease phenotype-associated
VAR_028635 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028636 commonName VAR_028636
VAR_028636 disease phenotype-associated
VAR_028636 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028637 commonName VAR_028637
VAR_028637 disease phenotype-associated
VAR_028637 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028638 commonName VAR_028638
VAR_028638 disease phenotype-associated
VAR_028638 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028639 commonName VAR_028639
VAR_028639 disease phenotype-associated
VAR_028639 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028640 commonName VAR_028640
VAR_028641 commonName VAR_028641
VAR_028641 disease phenotype-associated
VAR_028641 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028642 commonName VAR_028642
VAR_028642 disease phenotype-associated
VAR_028642 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028643 commonName VAR_028643
VAR_028643 disease phenotype-associated
VAR_028643 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028644 commonName VAR_028644
VAR_028644 disease phenotype-associated
VAR_028644 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028645 commonName VAR_028645
VAR_028645 disease phenotype-associated
VAR_028645 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028646 commonName VAR_028646
VAR_028646 disease phenotype-associated
VAR_028646 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028647 commonName VAR_028647
VAR_028647 disease phenotype-associated
VAR_028647 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028648 commonName VAR_028648
VAR_028648 disease phenotype-associated
VAR_028648 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028649 commonName VAR_028649
VAR_028649 disease phenotype-associated
VAR_028649 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028650 commonName VAR_028650
VAR_028650 disease phenotype-associated
VAR_028650 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028651 commonName VAR_028651
VAR_028651 disease phenotype-associated
VAR_028651 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028652 commonName VAR_028652
VAR_028652 disease phenotype-associated
VAR_028652 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028653 commonName VAR_028653
VAR_028653 disease phenotype-associated
VAR_028653 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028654 commonName VAR_028654
VAR_028654 disease phenotype-associated
VAR_028654 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028655 commonName VAR_028655
VAR_028655 disease phenotype-associated
VAR_028655 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028656 commonName VAR_028656
VAR_028656 disease phenotype-associated
VAR_028656 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028657 commonName VAR_028657
VAR_028657 disease phenotype-associated
VAR_028657 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028658 commonName VAR_028658
VAR_028658 disease phenotype-associated
VAR_028658 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028659 commonName VAR_028659
VAR_028659 disease phenotype-associated
VAR_028659 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028660 commonName VAR_028660
VAR_028660 disease phenotype-associated
VAR_028660 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028661 commonName VAR_028661
VAR_028661 disease phenotype-associated
VAR_028661 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028662 commonName VAR_028662
VAR_028662 disease phenotype-associated
VAR_028662 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028663 commonName VAR_028663
VAR_028663 disease phenotype-associated
VAR_028663 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028664 commonName VAR_028664
VAR_028664 disease phenotype-associated
VAR_028664 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028665 commonName VAR_028665
VAR_028665 disease phenotype-associated
VAR_028665 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028666 commonName VAR_028666
VAR_028666 disease phenotype-associated
VAR_028666 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028667 commonName VAR_028667
VAR_028667 disease phenotype-associated
VAR_028667 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028668 commonName VAR_028668
VAR_028668 disease phenotype-associated
VAR_028668 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028669 commonName VAR_028669
VAR_028669 disease phenotype-associated
VAR_028669 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028670 commonName VAR_028670
VAR_028670 disease phenotype-associated
VAR_028670 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028671 commonName VAR_028671
VAR_028671 disease phenotype-associated
VAR_028671 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028672 commonName VAR_028672
VAR_028672 disease phenotype-associated
VAR_028672 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028673 commonName VAR_028673
VAR_028673 disease phenotype-associated
VAR_028673 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028674 commonName VAR_028674
VAR_028674 disease phenotype-associated
VAR_028674 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028675 commonName VAR_028675
VAR_028675 disease phenotype-associated
VAR_028675 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028676 commonName VAR_028676
VAR_028676 disease phenotype-associated
VAR_028676 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028677 commonName VAR_028677
VAR_028677 disease phenotype-associated
VAR_028677 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028678 commonName VAR_028678
VAR_028678 disease phenotype-associated
VAR_028678 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028679 commonName VAR_028679
VAR_028679 disease phenotype-associated
VAR_028679 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028680 commonName VAR_028680
VAR_028680 disease phenotype-associated
VAR_028680 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028681 commonName VAR_028681
VAR_028681 disease phenotype-associated
VAR_028681 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028682 commonName VAR_028682
VAR_028682 disease phenotype-associated
VAR_028682 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028683 commonName VAR_028683
VAR_028683 disease phenotype-associated
VAR_028683 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028684 commonName VAR_028684
VAR_028684 disease phenotype-associated
VAR_028684 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028685 commonName VAR_028685
VAR_028685 disease phenotype-associated
VAR_028685 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028686 commonName VAR_028686
VAR_028686 disease phenotype-associated
VAR_028686 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028687 commonName VAR_028687
VAR_028687 disease phenotype-associated
VAR_028687 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028688 commonName VAR_028688
VAR_028688 disease phenotype-associated
VAR_028688 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028689 commonName VAR_028689
VAR_028689 disease phenotype-associated
VAR_028689 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028690 commonName VAR_028690
VAR_028690 disease phenotype-associated
VAR_028690 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028691 commonName VAR_028691
VAR_028691 disease phenotype-associated
VAR_028691 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028692 commonName VAR_028692
VAR_028692 disease phenotype-associated
VAR_028692 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028693 commonName VAR_028693
VAR_028693 disease phenotype-associated
VAR_028693 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028695 commonName VAR_028695
VAR_028695 disease phenotype-associated
VAR_028695 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028696 commonName VAR_028696
VAR_028696 disease phenotype-associated
VAR_028696 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028697 commonName VAR_028697
VAR_028697 disease phenotype-associated
VAR_028697 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028698 commonName VAR_028698
VAR_028698 disease phenotype-associated
VAR_028698 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028699 commonName VAR_028699
VAR_028699 disease phenotype-associated
VAR_028699 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028700 commonName VAR_028700
VAR_028700 disease phenotype-associated
VAR_028700 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028701 commonName VAR_028701
VAR_028701 disease phenotype-associated
VAR_028701 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028702 commonName VAR_028702
VAR_028702 disease phenotype-associated
VAR_028702 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028703 commonName VAR_028703
VAR_028703 disease phenotype-associated
VAR_028703 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028704 commonName VAR_028704
VAR_028704 disease phenotype-associated
VAR_028704 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028705 commonName VAR_028705
VAR_028705 disease phenotype-associated
VAR_028705 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028706 commonName VAR_028706
VAR_028706 disease phenotype-associated
VAR_028706 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028707 commonName VAR_028707
VAR_028707 disease phenotype-associated
VAR_028707 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028708 commonName VAR_028708
VAR_028708 disease phenotype-associated
VAR_028708 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028709 commonName VAR_028709
VAR_028709 disease phenotype-associated
VAR_028709 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028710 commonName VAR_028710
VAR_028710 disease phenotype-associated
VAR_028710 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028711 commonName VAR_028711
VAR_028711 disease phenotype-associated
VAR_028711 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028712 commonName VAR_028712
VAR_028712 disease phenotype-associated
VAR_028712 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028713 commonName VAR_028713
VAR_028713 disease phenotype-associated
VAR_028713 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028714 commonName VAR_028714
VAR_028714 disease phenotype-associated
VAR_028714 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028715 commonName VAR_028715
VAR_028715 disease phenotype-associated
VAR_028715 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028716 commonName VAR_028716
VAR_028716 disease phenotype-associated
VAR_028716 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_028717 commonName VAR_028717
VAR_028717 disease not phenotype-associated
VAR_028718 commonName VAR_028718
VAR_028718 disease not phenotype-associated
VAR_028719 commonName VAR_028719
VAR_028719 disease not phenotype-associated
VAR_028720 commonName VAR_028720
VAR_028720 disease not phenotype-associated
VAR_028721 commonName VAR_028721
VAR_028721 disease not phenotype-associated
VAR_028722 commonName VAR_028722
VAR_028722 disease not phenotype-associated
VAR_028724 commonName VAR_028724
VAR_028724 disease not phenotype-associated
VAR_028725 commonName VAR_028725
VAR_028725 disease not phenotype-associated
VAR_028726 commonName VAR_028726
VAR_028726 disease not phenotype-associated
VAR_028727 commonName VAR_028727
VAR_028727 disease not phenotype-associated
VAR_028728 commonName VAR_028728
VAR_028728 disease not phenotype-associated
VAR_028729 commonName VAR_028729
VAR_028729 disease not phenotype-associated
VAR_028731 commonName VAR_028731
VAR_028731 disease not phenotype-associated
VAR_028735 commonName VAR_028735
VAR_028735 disease not phenotype-associated
VAR_028736 commonName VAR_028736
VAR_028736 disease phenotype-associated
VAR_028736 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_028737 commonName VAR_028737
VAR_028737 disease not phenotype-associated
VAR_028738 commonName VAR_028738
VAR_028738 disease not phenotype-associated
VAR_028739 commonName VAR_028739
VAR_028739 disease not phenotype-associated
VAR_028740 commonName VAR_028740
VAR_028740 disease not phenotype-associated
VAR_028741 commonName VAR_028741
VAR_028741 disease not phenotype-associated
VAR_028742 commonName VAR_028742
VAR_028742 disease not phenotype-associated
VAR_028743 commonName VAR_028743
VAR_028743 disease not phenotype-associated
VAR_028744 commonName VAR_028744
VAR_028744 disease not phenotype-associated
VAR_028745 commonName VAR_028745
VAR_028745 disease not phenotype-associated
VAR_028746 commonName VAR_028746
VAR_028746 disease not phenotype-associated
VAR_028748 commonName VAR_028748
VAR_028748 disease not phenotype-associated
VAR_028749 commonName VAR_028749
VAR_028749 disease not phenotype-associated
VAR_028750 commonName VAR_028750
VAR_028750 disease not phenotype-associated
VAR_028751 commonName VAR_028751
VAR_028751 disease not phenotype-associated
VAR_028752 commonName VAR_028752
VAR_028752 disease phenotype-associated
VAR_028752 phenoCommon Pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:300607]
VAR_028753 commonName VAR_028753
VAR_028753 disease not phenotype-associated
VAR_028754 commonName VAR_028754
VAR_028754 disease not phenotype-associated
VAR_028755 commonName VAR_028755
VAR_028755 disease not phenotype-associated
VAR_028756 commonName VAR_028756
VAR_028756 disease not phenotype-associated
VAR_028757 commonName VAR_028757
VAR_028757 disease phenotype-associated
VAR_028757 phenoCommon Premature ovarian failure type 2B (POF2B) [MIM:300604]
VAR_028758 commonName VAR_028758
VAR_028758 disease not phenotype-associated
VAR_028759 commonName VAR_028759
VAR_028759 disease not phenotype-associated
VAR_028760 commonName VAR_028760
VAR_028760 disease not phenotype-associated
VAR_028761 commonName VAR_028761
VAR_028761 disease not phenotype-associated
VAR_028762 commonName VAR_028762
VAR_028762 disease not phenotype-associated
VAR_028763 commonName VAR_028763
VAR_028763 disease not phenotype-associated
VAR_028764 commonName VAR_028764
VAR_028764 disease not phenotype-associated
VAR_028765 commonName VAR_028765
VAR_028765 disease not phenotype-associated
VAR_028766 commonName VAR_028766
VAR_028766 disease not phenotype-associated
VAR_028769 commonName VAR_028769
VAR_028769 disease not phenotype-associated
VAR_028770 commonName VAR_028770
VAR_028770 disease not phenotype-associated
VAR_028771 commonName VAR_028771
VAR_028771 disease not phenotype-associated
VAR_028772 commonName VAR_028772
VAR_028772 disease not phenotype-associated
VAR_028773 commonName VAR_028773
VAR_028773 disease not phenotype-associated
VAR_028777 commonName VAR_028777
VAR_028777 disease phenotype-associated
VAR_028777 phenoCommon GNAS hyperfunction (GNASHYP) [MIM:139320]
VAR_028779 commonName VAR_028779
VAR_028779 disease phenotype-associated
VAR_028779 phenoCommon GNAS hyperfunction (GNASHYP) [MIM:139320]
VAR_028780 commonName VAR_028780
VAR_028780 disease not phenotype-associated
VAR_028783 commonName VAR_028783
VAR_028783 disease not phenotype-associated
VAR_028784 commonName VAR_028784
VAR_028784 disease not phenotype-associated
VAR_028785 commonName VAR_028785
VAR_028785 disease not phenotype-associated
VAR_028786 commonName VAR_028786
VAR_028786 disease not phenotype-associated
VAR_028787 commonName VAR_028787
VAR_028787 disease not phenotype-associated
VAR_028788 commonName VAR_028788
VAR_028788 disease not phenotype-associated
VAR_028789 commonName VAR_028789
VAR_028789 disease not phenotype-associated
VAR_028790 commonName VAR_028790
VAR_028790 disease not phenotype-associated
VAR_028791 commonName VAR_028791
VAR_028791 disease not phenotype-associated
VAR_028792 commonName VAR_028792
VAR_028792 disease not phenotype-associated
VAR_028793 commonName VAR_028793
VAR_028793 disease not phenotype-associated
VAR_028795 commonName VAR_028795
VAR_028795 disease not phenotype-associated
VAR_028796 commonName VAR_028796
VAR_028796 disease not phenotype-associated
VAR_028797 commonName VAR_028797
VAR_028797 disease not phenotype-associated
VAR_028798 commonName VAR_028798
VAR_028798 disease not phenotype-associated
VAR_028799 commonName VAR_028799
VAR_028799 disease not phenotype-associated
VAR_028800 commonName VAR_028800
VAR_028800 disease not phenotype-associated
VAR_028801 commonName VAR_028801
VAR_028801 disease not phenotype-associated
VAR_028802 commonName VAR_028802
VAR_028802 disease not phenotype-associated
VAR_028808 commonName VAR_028808
VAR_028808 disease not phenotype-associated
VAR_028809 commonName VAR_028809
VAR_028809 disease not phenotype-associated
VAR_028810 commonName VAR_028810
VAR_028810 disease not phenotype-associated
VAR_028811 commonName VAR_028811
VAR_028811 disease not phenotype-associated
VAR_028815 commonName VAR_028815
VAR_028815 disease not phenotype-associated
VAR_028816 commonName VAR_028816
VAR_028816 disease not phenotype-associated
VAR_028817 commonName VAR_028817
VAR_028817 disease not phenotype-associated
VAR_028818 commonName VAR_028818
VAR_028818 disease not phenotype-associated
VAR_028819 commonName VAR_028819
VAR_028819 disease not phenotype-associated
VAR_028820 commonName VAR_028820
VAR_028820 disease not phenotype-associated
VAR_028821 commonName VAR_028821
VAR_028821 disease not phenotype-associated
VAR_028822 commonName VAR_028822
VAR_028822 disease not phenotype-associated
VAR_028823 commonName VAR_028823
VAR_028823 disease not phenotype-associated
VAR_028825 commonName VAR_028825
VAR_028825 disease not phenotype-associated
VAR_028826 commonName VAR_028826
VAR_028826 disease not phenotype-associated
VAR_028827 commonName VAR_028827
VAR_028827 disease not phenotype-associated
VAR_028828 commonName VAR_028828
VAR_028828 disease not phenotype-associated
VAR_028829 commonName VAR_028829
VAR_028829 disease not phenotype-associated
VAR_028830 commonName VAR_028830
VAR_028830 disease not phenotype-associated
VAR_028831 commonName VAR_028831
VAR_028831 disease not phenotype-associated
VAR_028832 commonName VAR_028832
VAR_028832 disease not phenotype-associated
VAR_028835 commonName VAR_028835
VAR_028835 disease not phenotype-associated
VAR_028836 commonName VAR_028836
VAR_028836 disease not phenotype-associated
VAR_028837 commonName VAR_028837
VAR_028837 disease not phenotype-associated
VAR_028838 commonName VAR_028838
VAR_028838 disease not phenotype-associated
VAR_028840 commonName VAR_028840
VAR_028840 disease not phenotype-associated
VAR_028841 commonName VAR_028841
VAR_028841 disease not phenotype-associated
VAR_028842 commonName VAR_028842
VAR_028842 disease not phenotype-associated
VAR_028843 commonName VAR_028843
VAR_028843 disease not phenotype-associated
VAR_028844 commonName VAR_028844
VAR_028844 disease not phenotype-associated
VAR_028845 commonName VAR_028845
VAR_028845 disease not phenotype-associated
VAR_028846 commonName VAR_028846
VAR_028846 disease not phenotype-associated
VAR_028847 commonName VAR_028847
VAR_028847 disease not phenotype-associated
VAR_028848 commonName VAR_028848
VAR_028848 disease not phenotype-associated
VAR_028849 commonName VAR_028849
VAR_028849 disease not phenotype-associated
VAR_028850 commonName VAR_028850
VAR_028850 disease not phenotype-associated
VAR_028851 commonName VAR_028851
VAR_028851 disease not phenotype-associated
VAR_028853 commonName VAR_028853
VAR_028853 disease not phenotype-associated
VAR_028854 commonName VAR_028854
VAR_028854 disease not phenotype-associated
VAR_028855 commonName VAR_028855
VAR_028855 disease not phenotype-associated
VAR_028856 commonName VAR_028856
VAR_028856 disease not phenotype-associated
VAR_028857 commonName VAR_028857
VAR_028857 disease not phenotype-associated
VAR_028858 commonName VAR_028858
VAR_028858 disease not phenotype-associated
VAR_028859 commonName VAR_028859
VAR_028859 disease not phenotype-associated
VAR_028860 commonName VAR_028860
VAR_028860 disease not phenotype-associated
VAR_028861 commonName VAR_028861
VAR_028861 disease not phenotype-associated
VAR_028862 commonName VAR_028862
VAR_028862 disease not phenotype-associated
VAR_028864 commonName VAR_028864
VAR_028864 disease not phenotype-associated
VAR_028865 commonName VAR_028865
VAR_028865 disease not phenotype-associated
VAR_028866 commonName VAR_028866
VAR_028866 disease not phenotype-associated
VAR_028867 commonName VAR_028867
VAR_028867 disease not phenotype-associated
VAR_028868 commonName VAR_028868
VAR_028868 disease not phenotype-associated
VAR_028869 commonName VAR_028869
VAR_028869 disease not phenotype-associated
VAR_028875 commonName VAR_028875
VAR_028875 disease not phenotype-associated
VAR_028876 commonName VAR_028876
VAR_028876 disease not phenotype-associated
VAR_028877 commonName VAR_028877
VAR_028877 disease not phenotype-associated
VAR_028878 commonName VAR_028878
VAR_028878 disease not phenotype-associated
VAR_028879 commonName VAR_028879
VAR_028879 disease not phenotype-associated
VAR_028880 commonName VAR_028880
VAR_028880 disease not phenotype-associated
VAR_028881 commonName VAR_028881
VAR_028881 disease not phenotype-associated
VAR_028883 commonName VAR_028883
VAR_028883 disease not phenotype-associated
VAR_028885 commonName VAR_028885
VAR_028885 disease not phenotype-associated
VAR_028886 commonName VAR_028886
VAR_028886 disease not phenotype-associated
VAR_028888 commonName VAR_028888
VAR_028888 disease not phenotype-associated
VAR_028889 commonName VAR_028889
VAR_028889 disease not phenotype-associated
VAR_028890 commonName VAR_028890
VAR_028890 disease not phenotype-associated
VAR_028891 commonName VAR_028891
VAR_028891 disease not phenotype-associated
VAR_028892 commonName VAR_028892
VAR_028892 disease not phenotype-associated
VAR_028893 commonName VAR_028893
VAR_028893 disease not phenotype-associated
VAR_028894 commonName VAR_028894
VAR_028894 disease not phenotype-associated
VAR_028895 commonName VAR_028895
VAR_028895 disease not phenotype-associated
VAR_028896 commonName VAR_028896
VAR_028896 disease not phenotype-associated
VAR_028897 commonName VAR_028897
VAR_028897 disease not phenotype-associated
VAR_028898 commonName VAR_028898
VAR_028898 disease not phenotype-associated
VAR_028899 commonName VAR_028899
VAR_028899 disease not phenotype-associated
VAR_028900 commonName VAR_028900
VAR_028900 disease not phenotype-associated
VAR_028901 commonName VAR_028901
VAR_028901 disease not phenotype-associated
VAR_028902 commonName VAR_028902
VAR_028902 disease not phenotype-associated
VAR_028903 commonName VAR_028903
VAR_028903 disease not phenotype-associated
VAR_028904 commonName VAR_028904
VAR_028904 disease not phenotype-associated
VAR_028905 commonName VAR_028905
VAR_028905 disease not phenotype-associated
VAR_028906 commonName VAR_028906
VAR_028906 disease not phenotype-associated
VAR_028907 commonName VAR_028907
VAR_028907 disease not phenotype-associated
VAR_028908 commonName VAR_028908
VAR_028908 disease not phenotype-associated
VAR_028909 commonName VAR_028909
VAR_028909 disease not phenotype-associated
VAR_028910 commonName VAR_028910
VAR_028910 disease not phenotype-associated
VAR_028911 commonName VAR_028911
VAR_028911 disease not phenotype-associated
VAR_028912 commonName VAR_028912
VAR_028912 disease not phenotype-associated
VAR_028913 commonName VAR_028913
VAR_028913 disease not phenotype-associated
VAR_028914 commonName VAR_028914
VAR_028914 disease not phenotype-associated
VAR_028915 commonName VAR_028915
VAR_028915 disease not phenotype-associated
VAR_028916 commonName VAR_028916
VAR_028916 disease not phenotype-associated
VAR_028917 commonName VAR_028917
VAR_028917 disease not phenotype-associated
VAR_028918 commonName VAR_028918
VAR_028918 disease not phenotype-associated
VAR_028919 commonName VAR_028919
VAR_028919 disease not phenotype-associated
VAR_028920 commonName VAR_028920
VAR_028920 disease not phenotype-associated
VAR_028921 commonName VAR_028921
VAR_028921 disease phenotype-associated
VAR_028921 phenoCommon Premature chromatid separation trait (PCS) [MIM:176430]
VAR_028922 commonName VAR_028922
VAR_028922 disease not phenotype-associated
VAR_028930 commonName VAR_028930
VAR_028930 disease not phenotype-associated
VAR_028931 commonName VAR_028931
VAR_028931 disease not phenotype-associated
VAR_028932 commonName VAR_028932
VAR_028932 disease not phenotype-associated
VAR_028933 commonName VAR_028933
VAR_028933 disease not phenotype-associated
VAR_028934 commonName VAR_028934
VAR_028934 disease not phenotype-associated
VAR_028935 commonName VAR_028935
VAR_028935 disease not phenotype-associated
VAR_028936 commonName VAR_028936
VAR_028936 disease not phenotype-associated
VAR_028937 commonName VAR_028937
VAR_028937 disease not phenotype-associated
VAR_028938 commonName VAR_028938
VAR_028938 disease not phenotype-associated
VAR_028940 commonName VAR_028940
VAR_028940 disease not phenotype-associated
VAR_028941 commonName VAR_028941
VAR_028941 disease not phenotype-associated
VAR_028942 commonName VAR_028942
VAR_028942 disease not phenotype-associated
VAR_028943 commonName VAR_028943
VAR_028943 disease not phenotype-associated
VAR_028944 commonName VAR_028944
VAR_028944 disease not phenotype-associated
VAR_028945 commonName VAR_028945
VAR_028945 disease not phenotype-associated
VAR_028946 commonName VAR_028946
VAR_028946 disease not phenotype-associated
VAR_028947 commonName VAR_028947
VAR_028947 disease not phenotype-associated
VAR_028948 commonName VAR_028948
VAR_028948 disease not phenotype-associated
VAR_028950 commonName VAR_028950
VAR_028950 disease not phenotype-associated
VAR_028951 commonName VAR_028951
VAR_028951 disease phenotype-associated
VAR_028951 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028952 commonName VAR_028952
VAR_028952 disease phenotype-associated
VAR_028952 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028953 commonName VAR_028953
VAR_028953 disease phenotype-associated
VAR_028953 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028954 commonName VAR_028954
VAR_028954 disease phenotype-associated
VAR_028954 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028955 commonName VAR_028955
VAR_028955 disease phenotype-associated
VAR_028955 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028956 commonName VAR_028956
VAR_028956 disease phenotype-associated
VAR_028956 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028957 commonName VAR_028957
VAR_028957 disease phenotype-associated
VAR_028957 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028958 commonName VAR_028958
VAR_028958 disease phenotype-associated
VAR_028958 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028959 commonName VAR_028959
VAR_028959 disease not phenotype-associated
VAR_028960 commonName VAR_028960
VAR_028960 disease phenotype-associated
VAR_028960 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028961 commonName VAR_028961
VAR_028961 disease phenotype-associated
VAR_028961 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_028962 commonName VAR_028962
VAR_028962 disease not phenotype-associated
VAR_028963 commonName VAR_028963
VAR_028963 disease not phenotype-associated
VAR_028964 commonName VAR_028964
VAR_028964 disease not phenotype-associated
VAR_028965 commonName VAR_028965
VAR_028965 disease not phenotype-associated
VAR_028967 commonName VAR_028967
VAR_028967 disease not phenotype-associated
VAR_028968 commonName VAR_028968
VAR_028968 disease not phenotype-associated
VAR_028969 commonName VAR_028969
VAR_028969 disease not phenotype-associated
VAR_028970 commonName VAR_028970
VAR_028970 disease not phenotype-associated
VAR_028971 commonName VAR_028971
VAR_028971 disease not phenotype-associated
VAR_028972 commonName VAR_028972
VAR_028972 disease not phenotype-associated
VAR_028973 commonName VAR_028973
VAR_028973 disease not phenotype-associated
VAR_028974 commonName VAR_028974
VAR_028974 disease not phenotype-associated
VAR_028975 commonName VAR_028975
VAR_028975 disease not phenotype-associated
VAR_028976 commonName VAR_028976
VAR_028976 disease not phenotype-associated
VAR_028979 commonName VAR_028979
VAR_028979 disease not phenotype-associated
VAR_028980 commonName VAR_028980
VAR_028980 disease not phenotype-associated
VAR_028981 commonName VAR_028981
VAR_028981 disease not phenotype-associated
VAR_028982 commonName VAR_028982
VAR_028982 disease not phenotype-associated
VAR_028983 commonName VAR_028983
VAR_028983 disease not phenotype-associated
VAR_028984 commonName VAR_028984
VAR_028984 disease not phenotype-associated
VAR_028985 commonName VAR_028985
VAR_028985 disease not phenotype-associated
VAR_028986 commonName VAR_028986
VAR_028986 disease not phenotype-associated
VAR_028987 commonName VAR_028987
VAR_028987 disease not phenotype-associated
VAR_028988 commonName VAR_028988
VAR_028988 disease not phenotype-associated
VAR_028989 commonName VAR_028989
VAR_028989 disease not phenotype-associated
VAR_028990 commonName VAR_028990
VAR_028990 disease not phenotype-associated
VAR_028991 commonName VAR_028991
VAR_028991 disease not phenotype-associated
VAR_028992 commonName VAR_028992
VAR_028992 disease not phenotype-associated
VAR_028993 commonName VAR_028993
VAR_028993 disease not phenotype-associated
VAR_028994 commonName VAR_028994
VAR_028994 disease not phenotype-associated
VAR_028995 commonName VAR_028995
VAR_028995 disease not phenotype-associated
VAR_028996 commonName VAR_028996
VAR_028996 disease not phenotype-associated
VAR_028997 commonName VAR_028997
VAR_028997 disease not phenotype-associated
VAR_028998 commonName VAR_028998
VAR_028998 disease not phenotype-associated
VAR_028999 commonName VAR_028999
VAR_028999 disease not phenotype-associated
VAR_029000 commonName VAR_029000
VAR_029000 disease not phenotype-associated
VAR_029001 commonName VAR_029001
VAR_029001 disease not phenotype-associated
VAR_029002 commonName VAR_029002
VAR_029002 disease not phenotype-associated
VAR_029003 commonName VAR_029003
VAR_029003 disease phenotype-associated
VAR_029003 phenoCommon Diarrhea type 4 (DIAR4) [MIM:610370]
VAR_029004 commonName VAR_029004
VAR_029004 disease phenotype-associated
VAR_029004 phenoCommon Diarrhea type 4 (DIAR4) [MIM:610370]
VAR_029005 commonName VAR_029005
VAR_029005 disease not phenotype-associated
VAR_029006 commonName VAR_029006
VAR_029006 disease not phenotype-associated
VAR_029007 commonName VAR_029007
VAR_029007 disease not phenotype-associated
VAR_029008 commonName VAR_029008
VAR_029008 disease not phenotype-associated
VAR_029009 commonName VAR_029009
VAR_029009 disease not phenotype-associated
VAR_029011 commonName VAR_029011
VAR_029011 disease not phenotype-associated
VAR_029012 commonName VAR_029012
VAR_029012 disease not phenotype-associated
VAR_029013 commonName VAR_029013
VAR_029013 disease not phenotype-associated
VAR_029014 commonName VAR_029014
VAR_029014 disease not phenotype-associated
VAR_029015 commonName VAR_029015
VAR_029015 disease not phenotype-associated
VAR_029016 commonName VAR_029016
VAR_029016 disease not phenotype-associated
VAR_029017 commonName VAR_029017
VAR_029017 disease not phenotype-associated
VAR_029018 commonName VAR_029018
VAR_029018 disease phenotype-associated
VAR_029018 phenoCommon Cataract, zonular (CZ) [MIM:116800]
VAR_029019 commonName VAR_029019
VAR_029019 disease not phenotype-associated
VAR_029020 commonName VAR_029020
VAR_029020 disease not phenotype-associated
VAR_029021 commonName VAR_029021
VAR_029021 disease not phenotype-associated
VAR_029022 commonName VAR_029022
VAR_029022 disease not phenotype-associated
VAR_029023 commonName VAR_029023
VAR_029023 disease not phenotype-associated
VAR_029024 commonName VAR_029024
VAR_029024 disease not phenotype-associated
VAR_029025 commonName VAR_029025
VAR_029025 disease phenotype-associated
VAR_029025 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029026 commonName VAR_029026
VAR_029026 disease phenotype-associated
VAR_029026 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029027 commonName VAR_029027
VAR_029027 disease phenotype-associated
VAR_029027 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029028 commonName VAR_029028
VAR_029028 disease phenotype-associated
VAR_029028 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029029 commonName VAR_029029
VAR_029029 disease phenotype-associated
VAR_029029 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029030 commonName VAR_029030
VAR_029030 disease phenotype-associated
VAR_029030 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029031 commonName VAR_029031
VAR_029031 disease phenotype-associated
VAR_029031 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029032 commonName VAR_029032
VAR_029032 disease phenotype-associated
VAR_029032 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029033 commonName VAR_029033
VAR_029033 disease phenotype-associated
VAR_029033 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029034 commonName VAR_029034
VAR_029034 disease phenotype-associated
VAR_029034 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029035 commonName VAR_029035
VAR_029035 disease phenotype-associated
VAR_029035 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029036 commonName VAR_029036
VAR_029036 disease phenotype-associated
VAR_029036 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029037 commonName VAR_029037
VAR_029037 disease phenotype-associated
VAR_029037 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029038 commonName VAR_029038
VAR_029038 disease phenotype-associated
VAR_029038 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029039 commonName VAR_029039
VAR_029039 disease phenotype-associated
VAR_029039 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029040 commonName VAR_029040
VAR_029040 disease phenotype-associated
VAR_029040 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_029041 commonName VAR_029041
VAR_029041 disease not phenotype-associated
VAR_029042 commonName VAR_029042
VAR_029042 disease not phenotype-associated
VAR_029043 commonName VAR_029043
VAR_029043 disease not phenotype-associated
VAR_029044 commonName VAR_029044
VAR_029044 disease not phenotype-associated
VAR_029045 commonName VAR_029045
VAR_029045 disease not phenotype-associated
VAR_029046 commonName VAR_029046
VAR_029046 disease not phenotype-associated
VAR_029047 commonName VAR_029047
VAR_029047 disease not phenotype-associated
VAR_029048 commonName VAR_029048
VAR_029048 disease not phenotype-associated
VAR_029050 commonName VAR_029050
VAR_029050 disease not phenotype-associated
VAR_029051 commonName VAR_029051
VAR_029051 disease not phenotype-associated
VAR_029052 commonName VAR_029052
VAR_029052 disease not phenotype-associated
VAR_029055 commonName VAR_029055
VAR_029055 disease not phenotype-associated
VAR_029056 commonName VAR_029056
VAR_029056 disease not phenotype-associated
VAR_029057 commonName VAR_029057
VAR_029057 disease not phenotype-associated
VAR_029058 commonName VAR_029058
VAR_029058 disease not phenotype-associated
VAR_029059 commonName VAR_029059
VAR_029059 disease not phenotype-associated
VAR_029060 commonName VAR_029060
VAR_029060 disease not phenotype-associated
VAR_029061 commonName VAR_029061
VAR_029061 disease not phenotype-associated
VAR_029062 commonName VAR_029062
VAR_029062 disease not phenotype-associated
VAR_029063 commonName VAR_029063
VAR_029063 disease not phenotype-associated
VAR_029064 commonName VAR_029064
VAR_029064 disease not phenotype-associated
VAR_029065 commonName VAR_029065
VAR_029065 disease not phenotype-associated
VAR_029066 commonName VAR_029066
VAR_029066 disease not phenotype-associated
VAR_029075 commonName VAR_029075
VAR_029075 disease phenotype-associated
VAR_029075 phenoCommon Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]
VAR_029076 commonName VAR_029076
VAR_029076 disease not phenotype-associated
VAR_029077 commonName VAR_029077
VAR_029077 disease not phenotype-associated
VAR_029078 commonName VAR_029078
VAR_029078 disease not phenotype-associated
VAR_029079 commonName VAR_029079
VAR_029079 disease not phenotype-associated
VAR_029080 commonName VAR_029080
VAR_029080 disease phenotype-associated
VAR_029080 phenoCommon Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]
VAR_029081 commonName VAR_029081
VAR_029081 disease not phenotype-associated
VAR_029082 commonName VAR_029082
VAR_029082 disease not phenotype-associated
VAR_029083 commonName VAR_029083
VAR_029083 disease not phenotype-associated
VAR_029085 commonName VAR_029085
VAR_029085 disease not phenotype-associated
VAR_029086 commonName VAR_029086
VAR_029086 disease not phenotype-associated
VAR_029087 commonName VAR_029087
VAR_029087 disease not phenotype-associated
VAR_029088 commonName VAR_029088
VAR_029088 disease not phenotype-associated
VAR_029089 commonName VAR_029089
VAR_029089 disease not phenotype-associated
VAR_029090 commonName VAR_029090
VAR_029090 disease not phenotype-associated
VAR_029091 commonName VAR_029091
VAR_029091 disease not phenotype-associated
VAR_029092 commonName VAR_029092
VAR_029092 disease not phenotype-associated
VAR_029093 commonName VAR_029093
VAR_029093 disease not phenotype-associated
VAR_029094 commonName VAR_029094
VAR_029094 disease not phenotype-associated
VAR_029095 commonName VAR_029095
VAR_029095 disease not phenotype-associated
VAR_029096 commonName VAR_029096
VAR_029096 disease not phenotype-associated
VAR_029104 commonName VAR_029104
VAR_029104 disease not phenotype-associated
VAR_029105 commonName VAR_029105
VAR_029105 disease not phenotype-associated
VAR_029106 commonName VAR_029106
VAR_029106 disease not phenotype-associated
VAR_029107 commonName VAR_029107
VAR_029107 disease not phenotype-associated
VAR_029108 commonName VAR_029108
VAR_029108 disease phenotype-associated
VAR_029108 phenoCommon Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]
VAR_029109 commonName VAR_029109
VAR_029109 disease not phenotype-associated
VAR_029110 commonName VAR_029110
VAR_029110 disease not phenotype-associated
VAR_029111 commonName VAR_029111
VAR_029111 disease not phenotype-associated
VAR_029113 commonName VAR_029113
VAR_029113 disease not phenotype-associated
VAR_029115 commonName VAR_029115
VAR_029115 disease not phenotype-associated
VAR_029116 commonName VAR_029116
VAR_029116 disease not phenotype-associated
VAR_029117 commonName VAR_029117
VAR_029117 disease not phenotype-associated
VAR_029118 commonName VAR_029118
VAR_029118 disease not phenotype-associated
VAR_029119 commonName VAR_029119
VAR_029119 disease not phenotype-associated
VAR_029120 commonName VAR_029120
VAR_029120 disease not phenotype-associated
VAR_029121 commonName VAR_029121
VAR_029121 disease not phenotype-associated
VAR_029122 commonName VAR_029122
VAR_029122 disease not phenotype-associated
VAR_029123 commonName VAR_029123
VAR_029123 disease not phenotype-associated
VAR_029124 commonName VAR_029124
VAR_029124 disease not phenotype-associated
VAR_029125 commonName VAR_029125
VAR_029125 disease not phenotype-associated
VAR_029126 commonName VAR_029126
VAR_029129 commonName VAR_029129
VAR_029129 disease not phenotype-associated
VAR_029131 commonName VAR_029131
VAR_029131 disease not phenotype-associated
VAR_029132 commonName VAR_029132
VAR_029132 disease not phenotype-associated
VAR_029133 commonName VAR_029133
VAR_029133 disease not phenotype-associated
VAR_029134 commonName VAR_029134
VAR_029134 disease not phenotype-associated
VAR_029135 commonName VAR_029135
VAR_029135 disease not phenotype-associated
VAR_029136 commonName VAR_029136
VAR_029136 disease not phenotype-associated
VAR_029137 commonName VAR_029137
VAR_029137 disease not phenotype-associated
VAR_029138 commonName VAR_029138
VAR_029138 disease not phenotype-associated
VAR_029139 commonName VAR_029139
VAR_029139 disease not phenotype-associated
VAR_029140 commonName VAR_029140
VAR_029140 disease not phenotype-associated
VAR_029141 commonName VAR_029141
VAR_029141 disease not phenotype-associated
VAR_029142 commonName VAR_029142
VAR_029142 disease not phenotype-associated
VAR_029143 commonName VAR_029143
VAR_029143 disease not phenotype-associated
VAR_029144 commonName VAR_029144
VAR_029144 disease not phenotype-associated
VAR_029146 commonName VAR_029146
VAR_029146 disease not phenotype-associated
VAR_029147 commonName VAR_029147
VAR_029147 disease not phenotype-associated
VAR_029148 commonName VAR_029148
VAR_029148 disease not phenotype-associated
VAR_029149 commonName VAR_029149
VAR_029149 disease not phenotype-associated
VAR_029150 commonName VAR_029150
VAR_029150 disease not phenotype-associated
VAR_029151 commonName VAR_029151
VAR_029151 disease not phenotype-associated
VAR_029152 commonName VAR_029152
VAR_029152 disease not phenotype-associated
VAR_029153 commonName VAR_029153
VAR_029153 disease not phenotype-associated
VAR_029154 commonName VAR_029154
VAR_029154 disease not phenotype-associated
VAR_029156 commonName VAR_029156
VAR_029156 disease not phenotype-associated
VAR_029157 commonName VAR_029157
VAR_029157 disease not phenotype-associated
VAR_029158 commonName VAR_029158
VAR_029158 disease not phenotype-associated
VAR_029159 commonName VAR_029159
VAR_029159 disease not phenotype-associated
VAR_029160 commonName VAR_029160
VAR_029160 disease not phenotype-associated
VAR_029161 commonName VAR_029161
VAR_029161 disease not phenotype-associated
VAR_029162 commonName VAR_029162
VAR_029162 disease not phenotype-associated
VAR_029163 commonName VAR_029163
VAR_029163 disease not phenotype-associated
VAR_029164 commonName VAR_029164
VAR_029164 disease not phenotype-associated
VAR_029165 commonName VAR_029165
VAR_029165 disease not phenotype-associated
VAR_029166 commonName VAR_029166
VAR_029166 disease not phenotype-associated
VAR_029167 commonName VAR_029167
VAR_029167 disease not phenotype-associated
VAR_029168 commonName VAR_029168
VAR_029168 disease not phenotype-associated
VAR_029169 commonName VAR_029169
VAR_029169 disease not phenotype-associated
VAR_029170 commonName VAR_029170
VAR_029170 disease not phenotype-associated
VAR_029171 commonName VAR_029171
VAR_029171 disease not phenotype-associated
VAR_029172 commonName VAR_029172
VAR_029172 disease not phenotype-associated
VAR_029173 commonName VAR_029173
VAR_029173 disease not phenotype-associated
VAR_029174 commonName VAR_029174
VAR_029174 disease not phenotype-associated
VAR_029175 commonName VAR_029175
VAR_029175 disease not phenotype-associated
VAR_029176 commonName VAR_029176
VAR_029176 disease not phenotype-associated
VAR_029177 commonName VAR_029177
VAR_029177 disease not phenotype-associated
VAR_029178 commonName VAR_029178
VAR_029178 disease not phenotype-associated
VAR_029179 commonName VAR_029179
VAR_029179 disease not phenotype-associated
VAR_029180 commonName VAR_029180
VAR_029180 disease not phenotype-associated
VAR_029181 commonName VAR_029181
VAR_029181 disease not phenotype-associated
VAR_029182 commonName VAR_029182
VAR_029182 disease not phenotype-associated
VAR_029183 commonName VAR_029183
VAR_029183 disease not phenotype-associated
VAR_029184 commonName VAR_029184
VAR_029184 disease not phenotype-associated
VAR_029185 commonName VAR_029185
VAR_029185 disease not phenotype-associated
VAR_029186 commonName VAR_029186
VAR_029186 disease not phenotype-associated
VAR_029187 commonName VAR_029187
VAR_029187 disease not phenotype-associated
VAR_029188 commonName VAR_029188
VAR_029188 disease not phenotype-associated
VAR_029189 commonName VAR_029189
VAR_029189 disease not phenotype-associated
VAR_029190 commonName VAR_029190
VAR_029190 disease not phenotype-associated
VAR_029191 commonName VAR_029191
VAR_029191 disease not phenotype-associated
VAR_029192 commonName VAR_029192
VAR_029192 disease not phenotype-associated
VAR_029193 commonName VAR_029193
VAR_029193 disease not phenotype-associated
VAR_029194 commonName VAR_029194
VAR_029194 disease not phenotype-associated
VAR_029195 commonName VAR_029195
VAR_029195 disease not phenotype-associated
VAR_029196 commonName VAR_029196
VAR_029196 disease not phenotype-associated
VAR_029197 commonName VAR_029197
VAR_029197 disease not phenotype-associated
VAR_029198 commonName VAR_029198
VAR_029198 disease not phenotype-associated
VAR_029199 commonName VAR_029199
VAR_029199 disease not phenotype-associated
VAR_029200 commonName VAR_029200
VAR_029200 disease not phenotype-associated
VAR_029201 commonName VAR_029201
VAR_029201 disease not phenotype-associated
VAR_029202 commonName VAR_029202
VAR_029202 disease not phenotype-associated
VAR_029203 commonName VAR_029203
VAR_029203 disease not phenotype-associated
VAR_029204 commonName VAR_029204
VAR_029204 disease not phenotype-associated
VAR_029205 commonName VAR_029205
VAR_029205 disease not phenotype-associated
VAR_029206 commonName VAR_029206
VAR_029206 disease not phenotype-associated
VAR_029207 commonName VAR_029207
VAR_029207 disease not phenotype-associated
VAR_029208 commonName VAR_029208
VAR_029208 disease not phenotype-associated
VAR_029209 commonName VAR_029209
VAR_029209 disease not phenotype-associated
VAR_029210 commonName VAR_029210
VAR_029210 disease not phenotype-associated
VAR_029211 commonName VAR_029211
VAR_029211 disease not phenotype-associated
VAR_029212 commonName VAR_029212
VAR_029212 disease not phenotype-associated
VAR_029213 commonName VAR_029213
VAR_029213 disease not phenotype-associated
VAR_029214 commonName VAR_029214
VAR_029214 disease not phenotype-associated
VAR_029215 commonName VAR_029215
VAR_029215 disease not phenotype-associated
VAR_029216 commonName VAR_029216
VAR_029216 disease not phenotype-associated
VAR_029217 commonName VAR_029217
VAR_029217 disease not phenotype-associated
VAR_029218 commonName VAR_029218
VAR_029218 disease not phenotype-associated
VAR_029219 commonName VAR_029219
VAR_029219 disease not phenotype-associated
VAR_029220 commonName VAR_029220
VAR_029220 disease not phenotype-associated
VAR_029221 commonName VAR_029221
VAR_029221 disease not phenotype-associated
VAR_029222 commonName VAR_029222
VAR_029222 disease not phenotype-associated
VAR_029223 commonName VAR_029223
VAR_029223 disease not phenotype-associated
VAR_029224 commonName VAR_029224
VAR_029224 disease not phenotype-associated
VAR_029225 commonName VAR_029225
VAR_029225 disease not phenotype-associated
VAR_029226 commonName VAR_029226
VAR_029226 disease not phenotype-associated
VAR_029227 commonName VAR_029227
VAR_029227 disease not phenotype-associated
VAR_029229 commonName VAR_029229
VAR_029229 disease not phenotype-associated
VAR_029230 commonName VAR_029230
VAR_029230 disease not phenotype-associated
VAR_029231 commonName VAR_029231
VAR_029231 disease not phenotype-associated
VAR_029232 commonName VAR_029232
VAR_029232 disease not phenotype-associated
VAR_029233 commonName VAR_029233
VAR_029233 disease not phenotype-associated
VAR_029234 commonName VAR_029234
VAR_029234 disease not phenotype-associated
VAR_029235 commonName VAR_029235
VAR_029235 disease not phenotype-associated
VAR_029236 commonName VAR_029236
VAR_029236 disease not phenotype-associated
VAR_029238 commonName VAR_029238
VAR_029238 disease not phenotype-associated
VAR_029239 commonName VAR_029239
VAR_029239 disease not phenotype-associated
VAR_029240 commonName VAR_029240
VAR_029240 disease not phenotype-associated
VAR_029241 commonName VAR_029241
VAR_029241 disease not phenotype-associated
VAR_029242 commonName VAR_029242
VAR_029242 disease not phenotype-associated
VAR_029243 commonName VAR_029243
VAR_029243 disease not phenotype-associated
VAR_029244 commonName VAR_029244
VAR_029244 disease not phenotype-associated
VAR_029245 commonName VAR_029245
VAR_029245 disease not phenotype-associated
VAR_029246 commonName VAR_029246
VAR_029246 disease not phenotype-associated
VAR_029247 commonName VAR_029247
VAR_029247 disease not phenotype-associated
VAR_029248 commonName VAR_029248
VAR_029248 disease not phenotype-associated
VAR_029249 commonName VAR_029249
VAR_029249 disease not phenotype-associated
VAR_029250 commonName VAR_029250
VAR_029250 disease not phenotype-associated
VAR_029251 commonName VAR_029251
VAR_029251 disease not phenotype-associated
VAR_029252 commonName VAR_029252
VAR_029252 disease not phenotype-associated
VAR_029253 commonName VAR_029253
VAR_029253 disease not phenotype-associated
VAR_029254 commonName VAR_029254
VAR_029254 disease not phenotype-associated
VAR_029255 commonName VAR_029255
VAR_029255 disease not phenotype-associated
VAR_029256 commonName VAR_029256
VAR_029256 disease not phenotype-associated
VAR_029257 commonName VAR_029257
VAR_029257 disease not phenotype-associated
VAR_029259 commonName VAR_029259
VAR_029259 disease not phenotype-associated
VAR_029260 commonName VAR_029260
VAR_029260 disease not phenotype-associated
VAR_029261 commonName VAR_029261
VAR_029261 disease not phenotype-associated
VAR_029262 commonName VAR_029262
VAR_029262 disease not phenotype-associated
VAR_029263 commonName VAR_029263
VAR_029263 disease not phenotype-associated
VAR_029264 commonName VAR_029264
VAR_029264 disease not phenotype-associated
VAR_029265 commonName VAR_029265
VAR_029265 disease not phenotype-associated
VAR_029266 commonName VAR_029266
VAR_029266 disease not phenotype-associated
VAR_029267 commonName VAR_029267
VAR_029267 disease not phenotype-associated
VAR_029268 commonName VAR_029268
VAR_029268 disease not phenotype-associated
VAR_029269 commonName VAR_029269
VAR_029269 disease not phenotype-associated
VAR_029270 commonName VAR_029270
VAR_029270 disease not phenotype-associated
VAR_029271 commonName VAR_029271
VAR_029271 disease not phenotype-associated
VAR_029272 commonName VAR_029272
VAR_029272 disease not phenotype-associated
VAR_029273 commonName VAR_029273
VAR_029273 disease not phenotype-associated
VAR_029274 commonName VAR_029274
VAR_029274 disease not phenotype-associated
VAR_029275 commonName VAR_029275
VAR_029275 disease not phenotype-associated
VAR_029276 commonName VAR_029276
VAR_029276 disease not phenotype-associated
VAR_029278 commonName VAR_029278
VAR_029278 disease not phenotype-associated
VAR_029279 commonName VAR_029279
VAR_029279 disease not phenotype-associated
VAR_029280 commonName VAR_029280
VAR_029280 disease not phenotype-associated
VAR_029281 commonName VAR_029281
VAR_029281 disease not phenotype-associated
VAR_029282 commonName VAR_029282
VAR_029282 disease not phenotype-associated
VAR_029283 commonName VAR_029283
VAR_029283 disease not phenotype-associated
VAR_029284 commonName VAR_029284
VAR_029284 disease not phenotype-associated
VAR_029286 commonName VAR_029286
VAR_029286 disease not phenotype-associated
VAR_029287 commonName VAR_029287
VAR_029287 disease not phenotype-associated
VAR_029288 commonName VAR_029288
VAR_029288 disease not phenotype-associated
VAR_029289 commonName VAR_029289
VAR_029289 disease not phenotype-associated
VAR_029290 commonName VAR_029290
VAR_029290 disease not phenotype-associated
VAR_029291 commonName VAR_029291
VAR_029291 disease not phenotype-associated
VAR_029292 commonName VAR_029292
VAR_029292 disease not phenotype-associated
VAR_029294 commonName VAR_029294
VAR_029294 disease not phenotype-associated
VAR_029295 commonName VAR_029295
VAR_029295 disease not phenotype-associated
VAR_029296 commonName VAR_029296
VAR_029296 disease not phenotype-associated
VAR_029298 commonName VAR_029298
VAR_029298 disease not phenotype-associated
VAR_029299 commonName VAR_029299
VAR_029299 disease not phenotype-associated
VAR_029302 commonName VAR_029302
VAR_029302 disease not phenotype-associated
VAR_029303 commonName VAR_029303
VAR_029303 disease not phenotype-associated
VAR_029304 commonName VAR_029304
VAR_029304 disease not phenotype-associated
VAR_029306 commonName VAR_029306
VAR_029306 disease not phenotype-associated
VAR_029307 commonName VAR_029307
VAR_029307 disease not phenotype-associated
VAR_029308 commonName VAR_029308
VAR_029308 disease not phenotype-associated
VAR_029309 commonName VAR_029309
VAR_029309 disease not phenotype-associated
VAR_029310 commonName VAR_029310
VAR_029310 disease not phenotype-associated
VAR_029312 commonName VAR_029312
VAR_029312 disease not phenotype-associated
VAR_029313 commonName VAR_029313
VAR_029313 disease not phenotype-associated
VAR_029314 commonName VAR_029314
VAR_029314 disease not phenotype-associated
VAR_029315 commonName VAR_029315
VAR_029315 disease phenotype-associated
VAR_029315 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_029316 commonName VAR_029316
VAR_029316 disease not phenotype-associated
VAR_029317 commonName VAR_029317
VAR_029317 disease not phenotype-associated
VAR_029318 commonName VAR_029318
VAR_029318 disease not phenotype-associated
VAR_029319 commonName VAR_029319
VAR_029319 disease not phenotype-associated
VAR_029320 commonName VAR_029320
VAR_029320 disease not phenotype-associated
VAR_029321 commonName VAR_029321
VAR_029321 disease not phenotype-associated
VAR_029322 commonName VAR_029322
VAR_029322 disease not phenotype-associated
VAR_029323 commonName VAR_029323
VAR_029323 disease not phenotype-associated
VAR_029324 commonName VAR_029324
VAR_029324 disease not phenotype-associated
VAR_029325 commonName VAR_029325
VAR_029325 disease not phenotype-associated
VAR_029326 commonName VAR_029326
VAR_029326 disease not phenotype-associated
VAR_029328 commonName VAR_029328
VAR_029328 disease not phenotype-associated
VAR_029329 commonName VAR_029329
VAR_029329 disease not phenotype-associated
VAR_029330 commonName VAR_029330
VAR_029330 disease not phenotype-associated
VAR_029331 commonName VAR_029331
VAR_029331 disease not phenotype-associated
VAR_029332 commonName VAR_029332
VAR_029332 disease not phenotype-associated
VAR_029333 commonName VAR_029333
VAR_029333 disease not phenotype-associated
VAR_029334 commonName VAR_029334
VAR_029334 disease phenotype-associated
VAR_029334 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_029335 commonName VAR_029335
VAR_029335 disease not phenotype-associated
VAR_029336 commonName VAR_029336
VAR_029336 disease not phenotype-associated
VAR_029337 commonName VAR_029337
VAR_029337 disease not phenotype-associated
VAR_029338 commonName VAR_029338
VAR_029338 disease not phenotype-associated
VAR_029339 commonName VAR_029339
VAR_029339 disease not phenotype-associated
VAR_029340 commonName VAR_029340
VAR_029340 disease not phenotype-associated
VAR_029351 commonName VAR_029351
VAR_029351 disease not phenotype-associated
VAR_029352 commonName VAR_029352
VAR_029352 disease not phenotype-associated
VAR_029353 commonName VAR_029353
VAR_029353 disease not phenotype-associated
VAR_029354 commonName VAR_029354
VAR_029354 disease phenotype-associated
VAR_029354 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]
VAR_029355 commonName VAR_029355
VAR_029355 disease phenotype-associated
VAR_029355 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]
VAR_029356 commonName VAR_029356
VAR_029356 disease phenotype-associated
VAR_029356 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]
VAR_029357 commonName VAR_029357
VAR_029357 disease phenotype-associated
VAR_029357 phenoCommon Microphthalmia isolated type 2 (MCOP2) [MIM:610093]
VAR_029358 commonName VAR_029358
VAR_029358 disease not phenotype-associated
VAR_029359 commonName VAR_029359
VAR_029359 disease not phenotype-associated
VAR_029361 commonName VAR_029361
VAR_029361 disease phenotype-associated
VAR_029361 phenoCommon Alagille syndrome type 2 (ALGS2) [MIM:610205]
VAR_029362 commonName VAR_029362
VAR_029362 disease phenotype-associated
VAR_029362 phenoCommon Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]
VAR_029363 commonName VAR_029363
VAR_029363 disease phenotype-associated
VAR_029363 phenoCommon Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]
VAR_029365 commonName VAR_029365
VAR_029365 disease phenotype-associated
VAR_029365 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
VAR_029366 commonName VAR_029366
VAR_029366 disease phenotype-associated
VAR_029366 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
VAR_029367 commonName VAR_029367
VAR_029367 disease phenotype-associated
VAR_029367 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
VAR_029368 commonName VAR_029368
VAR_029368 disease phenotype-associated
VAR_029368 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
VAR_029369 commonName VAR_029369
VAR_029369 disease phenotype-associated
VAR_029369 phenoCommon Cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202]
VAR_029370 commonName VAR_029370
VAR_029370 disease phenotype-associated
VAR_029370 phenoCommon Cataract congenital cerulean type 4 (CCA4) [MIM:610202]
VAR_029371 commonName VAR_029371
VAR_029371 disease phenotype-associated
VAR_029371 phenoCommon Neurodegeneration with brain iron accumulation type 2A (NBIA2A) [MIM:256600]
VAR_029372 commonName VAR_029372
VAR_029372 disease phenotype-associated
VAR_029372 phenoCommon Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217]
VAR_029373 commonName VAR_029373
VAR_029373 disease phenotype-associated
VAR_029373 phenoCommon Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217]
VAR_029375 commonName VAR_029375
VAR_029375 disease phenotype-associated
VAR_029375 phenoCommon Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]
VAR_029376 commonName VAR_029376
VAR_029376 disease not phenotype-associated
VAR_029377 commonName VAR_029377
VAR_029377 disease not phenotype-associated
VAR_029378 commonName VAR_029378
VAR_029378 disease not phenotype-associated
VAR_029379 commonName VAR_029379
VAR_029379 disease not phenotype-associated
VAR_029380 commonName VAR_029380
VAR_029380 disease not phenotype-associated
VAR_029384 commonName VAR_029384
VAR_029384 disease not phenotype-associated
VAR_029385 commonName VAR_029385
VAR_029385 disease not phenotype-associated
VAR_029386 commonName VAR_029386
VAR_029386 disease not phenotype-associated
VAR_029387 commonName VAR_029387
VAR_029387 disease not phenotype-associated
VAR_029388 commonName VAR_029388
VAR_029388 disease not phenotype-associated
VAR_029389 commonName VAR_029389
VAR_029389 disease not phenotype-associated
VAR_029430 commonName VAR_029430
VAR_029430 disease not phenotype-associated
VAR_029431 commonName VAR_029431
VAR_029431 disease phenotype-associated
VAR_029431 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029432 commonName VAR_029432
VAR_029432 disease phenotype-associated
VAR_029432 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029433 commonName VAR_029433
VAR_029433 disease phenotype-associated
VAR_029433 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029434 commonName VAR_029434
VAR_029434 disease not phenotype-associated
VAR_029435 commonName VAR_029435
VAR_029435 disease phenotype-associated
VAR_029435 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029436 commonName VAR_029436
VAR_029436 disease phenotype-associated
VAR_029436 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029437 commonName VAR_029437
VAR_029437 disease phenotype-associated
VAR_029437 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029438 commonName VAR_029438
VAR_029438 disease phenotype-associated
VAR_029438 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029439 commonName VAR_029439
VAR_029439 disease phenotype-associated
VAR_029439 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029440 commonName VAR_029440
VAR_029440 disease phenotype-associated
VAR_029440 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029441 commonName VAR_029441
VAR_029441 disease phenotype-associated
VAR_029441 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029442 commonName VAR_029442
VAR_029442 disease phenotype-associated
VAR_029442 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029443 commonName VAR_029443
VAR_029443 disease phenotype-associated
VAR_029443 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029444 commonName VAR_029444
VAR_029444 disease phenotype-associated
VAR_029444 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_029445 commonName VAR_029445
VAR_029445 disease not phenotype-associated
VAR_029446 commonName VAR_029446
VAR_029446 disease phenotype-associated
VAR_029446 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]
VAR_029447 commonName VAR_029447
VAR_029447 disease phenotype-associated
VAR_029447 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
VAR_029448 commonName VAR_029448
VAR_029448 disease phenotype-associated
VAR_029448 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
VAR_029449 commonName VAR_029449
VAR_029449 disease not phenotype-associated
VAR_029452 commonName VAR_029452
VAR_029452 disease phenotype-associated
VAR_029452 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196]
VAR_029453 commonName VAR_029453
VAR_029453 disease not phenotype-associated
VAR_029454 commonName VAR_029454
VAR_029454 disease phenotype-associated
VAR_029454 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_029455 commonName VAR_029455
VAR_029455 disease not phenotype-associated
VAR_029456 commonName VAR_029456
VAR_029456 disease not phenotype-associated
VAR_029457 commonName VAR_029457
VAR_029457 disease not phenotype-associated
VAR_029458 commonName VAR_029458
VAR_029458 disease not phenotype-associated
VAR_029459 commonName VAR_029459
VAR_029459 disease not phenotype-associated
VAR_029460 commonName VAR_029460
VAR_029460 disease not phenotype-associated
VAR_029461 commonName VAR_029461
VAR_029461 disease not phenotype-associated
VAR_029462 commonName VAR_029462
VAR_029462 disease not phenotype-associated
VAR_029463 commonName VAR_029463
VAR_029463 disease not phenotype-associated
VAR_029464 commonName VAR_029464
VAR_029464 disease not phenotype-associated
VAR_029465 commonName VAR_029465
VAR_029465 disease not phenotype-associated
VAR_029466 commonName VAR_029466
VAR_029466 disease not phenotype-associated
VAR_029467 commonName VAR_029467
VAR_029467 disease not phenotype-associated
VAR_029468 commonName VAR_029468
VAR_029468 disease not phenotype-associated
VAR_029469 commonName VAR_029469
VAR_029469 disease not phenotype-associated
VAR_029470 commonName VAR_029470
VAR_029470 disease not phenotype-associated
VAR_029472 commonName VAR_029472
VAR_029472 disease not phenotype-associated
VAR_029473 commonName VAR_029473
VAR_029473 disease not phenotype-associated
VAR_029474 commonName VAR_029474
VAR_029474 disease not phenotype-associated
VAR_029475 commonName VAR_029475
VAR_029475 disease not phenotype-associated
VAR_029476 commonName VAR_029476
VAR_029476 disease not phenotype-associated
VAR_029477 commonName VAR_029477
VAR_029477 disease not phenotype-associated
VAR_029480 commonName VAR_029480
VAR_029480 disease not phenotype-associated
VAR_029481 commonName VAR_029481
VAR_029481 disease phenotype-associated
VAR_029481 phenoCommon Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]
VAR_029482 commonName VAR_029482
VAR_029482 disease phenotype-associated
VAR_029482 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_029483 commonName VAR_029483
VAR_029492 commonName VAR_029492
VAR_029492 disease not phenotype-associated
VAR_029493 commonName VAR_029493
VAR_029493 disease not phenotype-associated
VAR_029494 commonName VAR_029494
VAR_029494 disease not phenotype-associated
VAR_029495 commonName VAR_029495
VAR_029495 disease not phenotype-associated
VAR_029496 commonName VAR_029496
VAR_029496 disease not phenotype-associated
VAR_029499 commonName VAR_029499
VAR_029499 disease phenotype-associated
VAR_029499 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_029500 commonName VAR_029500
VAR_029500 disease not phenotype-associated
VAR_029502 commonName VAR_029502
VAR_029502 disease phenotype-associated
VAR_029502 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_029505 commonName VAR_029505
VAR_029505 disease phenotype-associated
VAR_029505 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_029509 commonName VAR_029509
VAR_029509 disease not phenotype-associated
VAR_029510 commonName VAR_029510
VAR_029510 disease not phenotype-associated
VAR_029511 commonName VAR_029511
VAR_029511 disease not phenotype-associated
VAR_029513 commonName VAR_029513
VAR_029513 disease not phenotype-associated
VAR_029514 commonName VAR_029514
VAR_029514 disease not phenotype-associated
VAR_029515 commonName VAR_029515
VAR_029515 disease not phenotype-associated
VAR_029516 commonName VAR_029516
VAR_029516 disease not phenotype-associated
VAR_029517 commonName VAR_029517
VAR_029517 disease not phenotype-associated
VAR_029518 commonName VAR_029518
VAR_029518 disease not phenotype-associated
VAR_029519 commonName VAR_029519
VAR_029519 disease phenotype-associated
VAR_029519 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_029520 commonName VAR_029520
VAR_029520 disease phenotype-associated
VAR_029520 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_029521 commonName VAR_029521
VAR_029521 disease phenotype-associated
VAR_029521 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
VAR_029528 commonName VAR_029528
VAR_029528 disease phenotype-associated
VAR_029528 phenoCommon Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]
VAR_029529 commonName VAR_029529
VAR_029529 disease phenotype-associated
VAR_029529 phenoCommon Cataract zonular type 2 (CZ2) [MIM:610425]
VAR_029530 commonName VAR_029530
VAR_029530 disease phenotype-associated
VAR_029530 phenoCommon Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]
VAR_029531 commonName VAR_029531
VAR_029531 disease phenotype-associated
VAR_029531 phenoCommon Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]
VAR_029532 commonName VAR_029532
VAR_029532 disease phenotype-associated
VAR_029532 phenoCommon Spheroid body myopathy (SBM) [MIM:182920]
VAR_029533 commonName VAR_029533
VAR_029533 disease not phenotype-associated
VAR_029534 commonName VAR_029534
VAR_029534 disease phenotype-associated
VAR_029534 phenoCommon Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500]
VAR_029535 commonName VAR_029535
VAR_029535 disease phenotype-associated
VAR_029535 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_029536 commonName VAR_029536
VAR_029536 disease not phenotype-associated
VAR_029537 commonName VAR_029537
VAR_029537 disease not phenotype-associated
VAR_029538 commonName VAR_029538
VAR_029538 disease not phenotype-associated
VAR_029539 commonName VAR_029539
VAR_029539 disease not phenotype-associated
VAR_029540 commonName VAR_029540
VAR_029540 disease phenotype-associated
VAR_029540 phenoCommon HyperCKmia (HYPCK) [MIM:123320]
VAR_029541 commonName VAR_029541
VAR_029541 disease phenotype-associated
VAR_029541 phenoCommon Rippling muscle disease (RMD) [MIM:606072]
VAR_029542 commonName VAR_029542
VAR_029542 disease not phenotype-associated
VAR_029543 commonName VAR_029543
VAR_029543 disease phenotype-associated
VAR_029543 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
VAR_029545 commonName VAR_029545
VAR_029545 disease not phenotype-associated
VAR_029546 commonName VAR_029546
VAR_029546 disease not phenotype-associated
VAR_029548 commonName VAR_029548
VAR_029548 disease not phenotype-associated
VAR_029549 commonName VAR_029549
VAR_029549 disease not phenotype-associated
VAR_029550 commonName VAR_029550
VAR_029550 disease not phenotype-associated
VAR_029551 commonName VAR_029551
VAR_029551 disease not phenotype-associated
VAR_029552 commonName VAR_029552
VAR_029552 disease not phenotype-associated
VAR_029553 commonName VAR_029553
VAR_029553 disease not phenotype-associated
VAR_029554 commonName VAR_029554
VAR_029554 disease not phenotype-associated
VAR_029555 commonName VAR_029555
VAR_029555 disease not phenotype-associated
VAR_029556 commonName VAR_029556
VAR_029556 disease not phenotype-associated
VAR_029557 commonName VAR_029557
VAR_029557 disease not phenotype-associated
VAR_029558 commonName VAR_029558
VAR_029558 disease not phenotype-associated
VAR_029559 commonName VAR_029559
VAR_029559 disease not phenotype-associated
VAR_029560 commonName VAR_029560
VAR_029560 disease not phenotype-associated
VAR_029561 commonName VAR_029561
VAR_029561 disease not phenotype-associated
VAR_029563 commonName VAR_029563
VAR_029564 commonName VAR_029564
VAR_029565 commonName VAR_029565
VAR_029565 disease not phenotype-associated
VAR_029566 commonName VAR_029566
VAR_029567 commonName VAR_029567
VAR_029567 disease not phenotype-associated
VAR_029568 commonName VAR_029568
VAR_029569 commonName VAR_029569
VAR_029569 disease not phenotype-associated
VAR_029570 commonName VAR_029570
VAR_029570 disease not phenotype-associated
VAR_029571 commonName VAR_029571
VAR_029571 disease phenotype-associated
VAR_029571 phenoCommon Hyperprolinemia type 1 (HP-1) [MIM:239500]
VAR_029572 commonName VAR_029572
VAR_029572 disease not phenotype-associated
VAR_029573 commonName VAR_029573
VAR_029573 disease not phenotype-associated
VAR_029574 commonName VAR_029574
VAR_029574 disease not phenotype-associated
VAR_029575 commonName VAR_029575
VAR_029575 disease not phenotype-associated
VAR_029578 commonName VAR_029578
VAR_029578 disease not phenotype-associated
VAR_029579 commonName VAR_029579
VAR_029579 disease not phenotype-associated
VAR_029581 commonName VAR_029581
VAR_029581 disease not phenotype-associated
VAR_029583 commonName VAR_029583
VAR_029583 disease not phenotype-associated
VAR_029584 commonName VAR_029584
VAR_029584 disease not phenotype-associated
VAR_029585 commonName VAR_029585
VAR_029585 disease not phenotype-associated
VAR_029586 commonName VAR_029586
VAR_029586 disease not phenotype-associated
VAR_029587 commonName VAR_029587
VAR_029587 disease not phenotype-associated
VAR_029589 commonName VAR_029589
VAR_029589 disease not phenotype-associated
VAR_029590 commonName VAR_029590
VAR_029590 disease not phenotype-associated
VAR_029591 commonName VAR_029591
VAR_029591 disease not phenotype-associated
VAR_029592 commonName VAR_029592
VAR_029592 disease not phenotype-associated
VAR_029593 commonName VAR_029593
VAR_029593 disease not phenotype-associated
VAR_029594 commonName VAR_029594
VAR_029594 disease not phenotype-associated
VAR_029595 commonName VAR_029595
VAR_029595 disease not phenotype-associated
VAR_029596 commonName VAR_029596
VAR_029596 disease not phenotype-associated
VAR_029597 commonName VAR_029597
VAR_029597 disease not phenotype-associated
VAR_029598 commonName VAR_029598
VAR_029598 disease not phenotype-associated
VAR_029602 commonName VAR_029602
VAR_029602 disease not phenotype-associated
VAR_029603 commonName VAR_029603
VAR_029603 disease not phenotype-associated
VAR_029604 commonName VAR_029604
VAR_029604 disease not phenotype-associated
VAR_029605 commonName VAR_029605
VAR_029605 disease not phenotype-associated
VAR_029606 commonName VAR_029606
VAR_029606 disease not phenotype-associated
VAR_029607 commonName VAR_029607
VAR_029607 disease not phenotype-associated
VAR_029608 commonName VAR_029608
VAR_029608 disease not phenotype-associated
VAR_029609 commonName VAR_029609
VAR_029609 disease not phenotype-associated
VAR_029610 commonName VAR_029610
VAR_029610 disease not phenotype-associated
VAR_029611 commonName VAR_029611
VAR_029611 disease not phenotype-associated
VAR_029612 commonName VAR_029612
VAR_029612 disease not phenotype-associated
VAR_029614 commonName VAR_029614
VAR_029614 disease not phenotype-associated
VAR_029615 commonName VAR_029615
VAR_029615 disease not phenotype-associated
VAR_029616 commonName VAR_029616
VAR_029616 disease not phenotype-associated
VAR_029617 commonName VAR_029617
VAR_029617 disease not phenotype-associated
VAR_029618 commonName VAR_029618
VAR_029618 disease not phenotype-associated
VAR_029619 commonName VAR_029619
VAR_029619 disease not phenotype-associated
VAR_029620 commonName VAR_029620
VAR_029620 disease not phenotype-associated
VAR_029621 commonName VAR_029621
VAR_029621 disease not phenotype-associated
VAR_029622 commonName VAR_029622
VAR_029622 disease not phenotype-associated
VAR_029623 commonName VAR_029623
VAR_029623 disease not phenotype-associated
VAR_029624 commonName VAR_029624
VAR_029624 disease not phenotype-associated
VAR_029625 commonName VAR_029625
VAR_029625 disease not phenotype-associated
VAR_029626 commonName VAR_029626
VAR_029626 disease not phenotype-associated
VAR_029627 commonName VAR_029627
VAR_029627 disease not phenotype-associated
VAR_029628 commonName VAR_029628
VAR_029628 disease not phenotype-associated
VAR_029629 commonName VAR_029629
VAR_029629 disease not phenotype-associated
VAR_029630 commonName VAR_029630
VAR_029630 disease not phenotype-associated
VAR_029631 commonName VAR_029631
VAR_029631 disease not phenotype-associated
VAR_029632 commonName VAR_029632
VAR_029632 disease not phenotype-associated
VAR_029633 commonName VAR_029633
VAR_029633 disease not phenotype-associated
VAR_029635 commonName VAR_029635
VAR_029635 disease not phenotype-associated
VAR_029636 commonName VAR_029636
VAR_029636 disease not phenotype-associated
VAR_029637 commonName VAR_029637
VAR_029637 disease not phenotype-associated
VAR_029638 commonName VAR_029638
VAR_029638 disease not phenotype-associated
VAR_029639 commonName VAR_029639
VAR_029639 disease not phenotype-associated
VAR_029640 commonName VAR_029640
VAR_029640 disease not phenotype-associated
VAR_029641 commonName VAR_029641
VAR_029641 disease not phenotype-associated
VAR_029642 commonName VAR_029642
VAR_029642 disease not phenotype-associated
VAR_029643 commonName VAR_029643
VAR_029643 disease not phenotype-associated
VAR_029648 commonName VAR_029648
VAR_029648 disease not phenotype-associated
VAR_029649 commonName VAR_029649
VAR_029649 disease not phenotype-associated
VAR_029650 commonName VAR_029650
VAR_029650 disease not phenotype-associated
VAR_029651 commonName VAR_029651
VAR_029651 disease not phenotype-associated
VAR_029652 commonName VAR_029652
VAR_029652 disease not phenotype-associated
VAR_029653 commonName VAR_029653
VAR_029653 disease not phenotype-associated
VAR_029656 commonName VAR_029656
VAR_029656 disease not phenotype-associated
VAR_029657 commonName VAR_029657
VAR_029657 disease phenotype-associated
VAR_029657 phenoCommon Ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]
VAR_029658 commonName VAR_029658
VAR_029658 disease not phenotype-associated
VAR_029659 commonName VAR_029659
VAR_029659 disease not phenotype-associated
VAR_029660 commonName VAR_029660
VAR_029660 disease phenotype-associated
VAR_029660 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029661 commonName VAR_029661
VAR_029661 disease phenotype-associated
VAR_029661 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029662 commonName VAR_029662
VAR_029662 disease phenotype-associated
VAR_029662 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029663 commonName VAR_029663
VAR_029663 disease phenotype-associated
VAR_029663 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029664 commonName VAR_029664
VAR_029664 disease phenotype-associated
VAR_029664 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029665 commonName VAR_029665
VAR_029665 disease phenotype-associated
VAR_029665 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029666 commonName VAR_029666
VAR_029666 disease phenotype-associated
VAR_029666 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029667 commonName VAR_029667
VAR_029667 disease phenotype-associated
VAR_029667 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029668 commonName VAR_029668
VAR_029668 disease phenotype-associated
VAR_029668 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029669 commonName VAR_029669
VAR_029669 disease phenotype-associated
VAR_029669 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029670 commonName VAR_029670
VAR_029670 disease phenotype-associated
VAR_029670 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029671 commonName VAR_029671
VAR_029671 disease phenotype-associated
VAR_029671 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029672 commonName VAR_029672
VAR_029672 disease phenotype-associated
VAR_029672 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029673 commonName VAR_029673
VAR_029673 disease phenotype-associated
VAR_029673 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029674 commonName VAR_029674
VAR_029674 disease not phenotype-associated
VAR_029675 commonName VAR_029675
VAR_029675 disease phenotype-associated
VAR_029675 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_029676 commonName VAR_029676
VAR_029676 disease phenotype-associated
VAR_029676 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029677 commonName VAR_029677
VAR_029677 disease phenotype-associated
VAR_029677 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029678 commonName VAR_029678
VAR_029678 disease phenotype-associated
VAR_029678 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029679 commonName VAR_029679
VAR_029679 disease phenotype-associated
VAR_029679 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029680 commonName VAR_029680
VAR_029680 disease phenotype-associated
VAR_029680 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029681 commonName VAR_029681
VAR_029681 disease phenotype-associated
VAR_029681 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029682 commonName VAR_029682
VAR_029682 disease phenotype-associated
VAR_029682 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029683 commonName VAR_029683
VAR_029683 disease phenotype-associated
VAR_029683 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029684 commonName VAR_029684
VAR_029684 disease phenotype-associated
VAR_029684 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029685 commonName VAR_029685
VAR_029685 disease phenotype-associated
VAR_029685 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029686 commonName VAR_029686
VAR_029686 disease phenotype-associated
VAR_029686 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029687 commonName VAR_029687
VAR_029687 disease phenotype-associated
VAR_029687 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029688 commonName VAR_029688
VAR_029688 disease phenotype-associated
VAR_029688 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029689 commonName VAR_029689
VAR_029689 disease phenotype-associated
VAR_029689 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029690 commonName VAR_029690
VAR_029690 disease not phenotype-associated
VAR_029691 commonName VAR_029691
VAR_029692 commonName VAR_029692
VAR_029692 disease phenotype-associated
VAR_029692 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029693 commonName VAR_029693
VAR_029693 disease phenotype-associated
VAR_029693 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029694 commonName VAR_029694
VAR_029694 disease phenotype-associated
VAR_029694 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029695 commonName VAR_029695
VAR_029695 disease phenotype-associated
VAR_029695 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029697 commonName VAR_029697
VAR_029697 disease phenotype-associated
VAR_029697 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029698 commonName VAR_029698
VAR_029698 disease phenotype-associated
VAR_029698 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029699 commonName VAR_029699
VAR_029699 disease phenotype-associated
VAR_029699 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029700 commonName VAR_029700
VAR_029700 disease phenotype-associated
VAR_029700 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_029701 commonName VAR_029701
VAR_029701 disease phenotype-associated
VAR_029701 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029702 commonName VAR_029702
VAR_029702 disease phenotype-associated
VAR_029702 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029703 commonName VAR_029703
VAR_029703 disease phenotype-associated
VAR_029703 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029704 commonName VAR_029704
VAR_029704 disease phenotype-associated
VAR_029704 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029706 commonName VAR_029706
VAR_029706 disease phenotype-associated
VAR_029706 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029707 commonName VAR_029707
VAR_029707 disease phenotype-associated
VAR_029707 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029708 commonName VAR_029708
VAR_029708 disease phenotype-associated
VAR_029708 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029709 commonName VAR_029709
VAR_029709 disease phenotype-associated
VAR_029709 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_029710 commonName VAR_029710
VAR_029710 disease phenotype-associated
VAR_029710 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029711 commonName VAR_029711
VAR_029711 disease phenotype-associated
VAR_029711 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029712 commonName VAR_029712
VAR_029712 disease phenotype-associated
VAR_029712 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029713 commonName VAR_029713
VAR_029713 disease phenotype-associated
VAR_029713 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029714 commonName VAR_029714
VAR_029714 disease phenotype-associated
VAR_029714 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029715 commonName VAR_029715
VAR_029715 disease phenotype-associated
VAR_029715 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_029716 commonName VAR_029716
VAR_029716 disease phenotype-associated
VAR_029716 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029717 commonName VAR_029717
VAR_029717 disease phenotype-associated
VAR_029717 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029718 commonName VAR_029718
VAR_029718 disease phenotype-associated
VAR_029718 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029720 commonName VAR_029720
VAR_029720 disease phenotype-associated
VAR_029720 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029721 commonName VAR_029721
VAR_029721 disease phenotype-associated
VAR_029721 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029723 commonName VAR_029723
VAR_029723 disease phenotype-associated
VAR_029723 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_029724 commonName VAR_029724
VAR_029724 disease phenotype-associated
VAR_029724 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029726 commonName VAR_029726
VAR_029726 disease phenotype-associated
VAR_029726 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029727 commonName VAR_029727
VAR_029727 disease phenotype-associated
VAR_029727 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_029728 commonName VAR_029728
VAR_029728 disease phenotype-associated
VAR_029728 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029729 commonName VAR_029729
VAR_029729 disease phenotype-associated
VAR_029729 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_029730 commonName VAR_029730
VAR_029731 commonName VAR_029731
VAR_029731 disease not phenotype-associated
VAR_029732 commonName VAR_029732
VAR_029732 disease not phenotype-associated
VAR_029733 commonName VAR_029733
VAR_029733 disease phenotype-associated
VAR_029733 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029734 commonName VAR_029734
VAR_029734 disease phenotype-associated
VAR_029734 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029735 commonName VAR_029735
VAR_029735 disease not phenotype-associated
VAR_029736 commonName VAR_029736
VAR_029736 disease not phenotype-associated
VAR_029737 commonName VAR_029737
VAR_029737 disease phenotype-associated
VAR_029737 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029738 commonName VAR_029738
VAR_029738 disease phenotype-associated
VAR_029738 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029739 commonName VAR_029739
VAR_029739 disease phenotype-associated
VAR_029739 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029740 commonName VAR_029740
VAR_029740 disease phenotype-associated
VAR_029740 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029741 commonName VAR_029741
VAR_029741 disease phenotype-associated
VAR_029741 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_029742 commonName VAR_029742
VAR_029746 commonName VAR_029746
VAR_029746 disease not phenotype-associated
VAR_029747 commonName VAR_029747
VAR_029747 disease not phenotype-associated
VAR_029748 commonName VAR_029748
VAR_029748 disease not phenotype-associated
VAR_029749 commonName VAR_029749
VAR_029749 disease not phenotype-associated
VAR_029750 commonName VAR_029750
VAR_029750 disease not phenotype-associated
VAR_029752 commonName VAR_029752
VAR_029752 disease not phenotype-associated
VAR_029753 commonName VAR_029753
VAR_029753 disease not phenotype-associated
VAR_029755 commonName VAR_029755
VAR_029755 disease not phenotype-associated
VAR_029759 commonName VAR_029759
VAR_029759 disease not phenotype-associated
VAR_029762 commonName VAR_029762
VAR_029762 disease not phenotype-associated
VAR_029763 commonName VAR_029763
VAR_029763 disease not phenotype-associated
VAR_029764 commonName VAR_029764
VAR_029764 disease not phenotype-associated
VAR_029765 commonName VAR_029765
VAR_029765 disease not phenotype-associated
VAR_029766 commonName VAR_029766
VAR_029766 disease not phenotype-associated
VAR_029767 commonName VAR_029767
VAR_029767 disease not phenotype-associated
VAR_029768 commonName VAR_029768
VAR_029768 disease not phenotype-associated
VAR_029769 commonName VAR_029769
VAR_029769 disease not phenotype-associated
VAR_029770 commonName VAR_029770
VAR_029770 disease not phenotype-associated
VAR_029771 commonName VAR_029771
VAR_029771 disease not phenotype-associated
VAR_029772 commonName VAR_029772
VAR_029772 disease not phenotype-associated
VAR_029773 commonName VAR_029773
VAR_029773 disease not phenotype-associated
VAR_029774 commonName VAR_029774
VAR_029774 disease not phenotype-associated
VAR_029775 commonName VAR_029775
VAR_029775 disease not phenotype-associated
VAR_029776 commonName VAR_029776
VAR_029776 disease not phenotype-associated
VAR_029777 commonName VAR_029777
VAR_029777 disease not phenotype-associated
VAR_029778 commonName VAR_029778
VAR_029778 disease phenotype-associated
VAR_029778 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_029779 commonName VAR_029779
VAR_029779 disease phenotype-associated
VAR_029779 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_029780 commonName VAR_029780
VAR_029780 disease phenotype-associated
VAR_029780 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
VAR_029781 commonName VAR_029781
VAR_029781 disease phenotype-associated
VAR_029781 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
HbVar.679 ethnic Babinga Pygmies
VAR_029782 commonName VAR_029782
VAR_029782 disease phenotype-associated
VAR_029782 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
VAR_029783 commonName VAR_029783
VAR_029783 disease phenotype-associated
VAR_029783 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
VAR_029784 commonName VAR_029784
VAR_029784 disease phenotype-associated
VAR_029784 phenoCommon Leucine-induced hypoglycemia (LIH) [MIM:240800]
VAR_029785 commonName VAR_029785
VAR_029785 disease phenotype-associated
VAR_029785 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
VAR_029787 commonName VAR_029787
VAR_029787 disease phenotype-associated
VAR_029787 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_029788 commonName VAR_029788
VAR_029788 disease not phenotype-associated
VAR_029789 commonName VAR_029789
VAR_029789 disease not phenotype-associated
VAR_029790 commonName VAR_029790
VAR_029790 disease not phenotype-associated
VAR_029791 commonName VAR_029791
VAR_029791 disease not phenotype-associated
VAR_029792 commonName VAR_029792
VAR_029792 disease not phenotype-associated
VAR_029793 commonName VAR_029793
VAR_029793 disease not phenotype-associated
VAR_029794 commonName VAR_029794
VAR_029794 disease not phenotype-associated
VAR_029795 commonName VAR_029795
VAR_029795 disease not phenotype-associated
VAR_029796 commonName VAR_029796
VAR_029796 disease not phenotype-associated
VAR_029797 commonName VAR_029797
VAR_029797 disease not phenotype-associated
VAR_029799 commonName VAR_029799
VAR_029799 disease not phenotype-associated
VAR_029800 commonName VAR_029800
VAR_029800 disease not phenotype-associated
VAR_029801 commonName VAR_029801
VAR_029801 disease not phenotype-associated
VAR_029802 commonName VAR_029802
VAR_029802 disease not phenotype-associated
VAR_029803 commonName VAR_029803
VAR_029803 disease not phenotype-associated
VAR_029804 commonName VAR_029804
VAR_029804 disease not phenotype-associated
VAR_029805 commonName VAR_029805
VAR_029805 disease not phenotype-associated
VAR_029806 commonName VAR_029806
VAR_029806 disease not phenotype-associated
VAR_029811 commonName VAR_029811
VAR_029811 disease not phenotype-associated
VAR_029814 commonName VAR_029814
VAR_029814 disease not phenotype-associated
VAR_029815 commonName VAR_029815
VAR_029815 disease not phenotype-associated
VAR_029816 commonName VAR_029816
VAR_029816 disease not phenotype-associated
VAR_029817 commonName VAR_029817
VAR_029817 disease not phenotype-associated
VAR_029818 commonName VAR_029818
VAR_029818 disease not phenotype-associated
VAR_029822 commonName VAR_029822
VAR_029822 disease not phenotype-associated
VAR_029823 commonName VAR_029823
VAR_029823 disease not phenotype-associated
VAR_029824 commonName VAR_029824
VAR_029824 disease not phenotype-associated
VAR_029825 commonName VAR_029825
VAR_029825 disease not phenotype-associated
VAR_029826 commonName VAR_029826
VAR_029826 disease not phenotype-associated
VAR_029827 commonName VAR_029827
VAR_029827 disease not phenotype-associated
VAR_029828 commonName VAR_029828
VAR_029828 disease not phenotype-associated
VAR_029829 commonName VAR_029829
VAR_029829 disease not phenotype-associated
VAR_029830 commonName VAR_029830
VAR_029830 disease not phenotype-associated
VAR_029831 commonName VAR_029831
VAR_029831 disease not phenotype-associated
VAR_029832 commonName VAR_029832
VAR_029832 disease not phenotype-associated
VAR_029833 commonName VAR_029833
VAR_029833 disease not phenotype-associated
VAR_029834 commonName VAR_029834
VAR_029834 disease not phenotype-associated
VAR_029835 commonName VAR_029835
VAR_029835 disease not phenotype-associated
VAR_029836 commonName VAR_029836
VAR_029836 disease not phenotype-associated
VAR_029837 commonName VAR_029837
VAR_029837 disease not phenotype-associated
VAR_029838 commonName VAR_029838
VAR_029838 disease not phenotype-associated
VAR_029839 commonName VAR_029839
VAR_029839 disease not phenotype-associated
VAR_029840 commonName VAR_029840
VAR_029840 disease not phenotype-associated
VAR_029841 commonName VAR_029841
VAR_029841 disease not phenotype-associated
VAR_029842 commonName VAR_029842
VAR_029842 disease not phenotype-associated
VAR_029843 commonName VAR_029843
VAR_029843 disease not phenotype-associated
VAR_029844 commonName VAR_029844
VAR_029844 disease not phenotype-associated
VAR_029845 commonName VAR_029845
VAR_029845 disease not phenotype-associated
VAR_029846 commonName VAR_029846
VAR_029846 disease not phenotype-associated
VAR_029847 commonName VAR_029847
VAR_029847 disease not phenotype-associated
VAR_029848 commonName VAR_029848
VAR_029848 disease not phenotype-associated
VAR_029852 commonName VAR_029852
VAR_029852 disease not phenotype-associated
VAR_029853 commonName VAR_029853
VAR_029853 disease not phenotype-associated
VAR_029854 commonName VAR_029854
VAR_029854 disease not phenotype-associated
VAR_029856 commonName VAR_029856
VAR_029856 disease not phenotype-associated
VAR_029857 commonName VAR_029857
VAR_029857 disease not phenotype-associated
VAR_029858 commonName VAR_029858
VAR_029858 disease not phenotype-associated
VAR_029859 commonName VAR_029859
VAR_029859 disease not phenotype-associated
VAR_029861 commonName VAR_029861
VAR_029861 disease not phenotype-associated
VAR_029862 commonName VAR_029862
VAR_029862 disease not phenotype-associated
VAR_029863 commonName VAR_029863
VAR_029863 disease not phenotype-associated
VAR_029864 commonName VAR_029864
VAR_029864 disease not phenotype-associated
VAR_029865 commonName VAR_029865
VAR_029865 disease not phenotype-associated
VAR_029866 commonName VAR_029866
VAR_029866 disease not phenotype-associated
VAR_029867 commonName VAR_029867
VAR_029867 disease not phenotype-associated
VAR_029868 commonName VAR_029868
VAR_029868 disease not phenotype-associated
VAR_029869 commonName VAR_029869
VAR_029869 disease not phenotype-associated
VAR_029870 commonName VAR_029870
VAR_029870 disease not phenotype-associated
VAR_029871 commonName VAR_029871
VAR_029871 disease not phenotype-associated
VAR_029872 commonName VAR_029872
VAR_029872 disease not phenotype-associated
VAR_029873 commonName VAR_029873
VAR_029873 disease not phenotype-associated
VAR_029874 commonName VAR_029874
VAR_029874 disease not phenotype-associated
VAR_029875 commonName VAR_029875
VAR_029875 disease not phenotype-associated
VAR_029876 commonName VAR_029876
VAR_029876 disease phenotype-associated
VAR_029876 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]
VAR_029877 commonName VAR_029877
VAR_029877 disease phenotype-associated
VAR_029877 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]
VAR_029878 commonName VAR_029878
VAR_029878 disease phenotype-associated
VAR_029878 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]
VAR_029879 commonName VAR_029879
VAR_029879 disease phenotype-associated
VAR_029879 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]
VAR_029880 commonName VAR_029880
VAR_029880 disease phenotype-associated
VAR_029880 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_029880 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]
VAR_029883 commonName VAR_029883
VAR_029883 disease phenotype-associated
VAR_029883 phenoCommon Nephrotic syndrome type 3 (NPHS3) [MIM:610725]
VAR_029884 commonName VAR_029884
VAR_029884 disease phenotype-associated
VAR_029884 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
VAR_029885 commonName VAR_029885
VAR_029885 disease phenotype-associated
VAR_029885 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
VAR_029887 commonName VAR_029887
VAR_029887 disease phenotype-associated
VAR_029887 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
VAR_029888 commonName VAR_029888
VAR_029888 disease phenotype-associated
VAR_029888 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
VAR_029889 commonName VAR_029889
VAR_029889 disease phenotype-associated
VAR_029889 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
VAR_029890 commonName VAR_029890
VAR_029890 disease not phenotype-associated
VAR_029891 commonName VAR_029891
VAR_029891 disease not phenotype-associated
VAR_029892 commonName VAR_029892
VAR_029892 disease not phenotype-associated
VAR_029893 commonName VAR_029893
VAR_029893 disease not phenotype-associated
VAR_029895 commonName VAR_029895
VAR_029895 disease phenotype-associated
VAR_029895 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029896 commonName VAR_029896
VAR_029896 disease phenotype-associated
VAR_029896 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029898 commonName VAR_029898
VAR_029898 disease phenotype-associated
VAR_029898 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029899 commonName VAR_029899
VAR_029899 disease phenotype-associated
VAR_029899 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029900 commonName VAR_029900
VAR_029900 disease phenotype-associated
VAR_029900 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029901 commonName VAR_029901
VAR_029901 disease phenotype-associated
VAR_029901 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029902 commonName VAR_029902
VAR_029902 disease phenotype-associated
VAR_029902 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029903 commonName VAR_029903
VAR_029903 disease phenotype-associated
VAR_029903 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029904 commonName VAR_029904
VAR_029904 disease phenotype-associated
VAR_029904 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029905 commonName VAR_029905
VAR_029905 disease phenotype-associated
VAR_029905 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029906 commonName VAR_029906
VAR_029906 disease phenotype-associated
VAR_029906 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029907 commonName VAR_029907
VAR_029907 disease phenotype-associated
VAR_029907 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029908 commonName VAR_029908
VAR_029908 disease phenotype-associated
VAR_029908 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029909 commonName VAR_029909
VAR_029909 disease phenotype-associated
VAR_029909 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029910 commonName VAR_029910
VAR_029910 disease phenotype-associated
VAR_029910 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029911 commonName VAR_029911
VAR_029911 disease phenotype-associated
VAR_029911 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029912 commonName VAR_029912
VAR_029912 disease phenotype-associated
VAR_029912 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029913 commonName VAR_029913
VAR_029913 disease phenotype-associated
VAR_029913 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029914 commonName VAR_029914
VAR_029914 disease phenotype-associated
VAR_029914 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029915 commonName VAR_029915
VAR_029915 disease phenotype-associated
VAR_029915 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029916 commonName VAR_029916
VAR_029916 disease phenotype-associated
VAR_029916 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029917 commonName VAR_029917
VAR_029917 disease phenotype-associated
VAR_029917 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029919 commonName VAR_029919
VAR_029919 disease phenotype-associated
VAR_029919 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029920 commonName VAR_029920
VAR_029920 disease phenotype-associated
VAR_029920 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029922 commonName VAR_029922
VAR_029922 disease phenotype-associated
VAR_029922 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029923 commonName VAR_029923
VAR_029923 disease phenotype-associated
VAR_029923 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029924 commonName VAR_029924
VAR_029924 disease phenotype-associated
VAR_029924 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029925 commonName VAR_029925
VAR_029925 disease phenotype-associated
VAR_029925 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029926 commonName VAR_029926
VAR_029926 disease phenotype-associated
VAR_029926 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029927 commonName VAR_029927
VAR_029927 disease phenotype-associated
VAR_029927 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029928 commonName VAR_029928
VAR_029928 disease phenotype-associated
VAR_029928 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029929 commonName VAR_029929
VAR_029929 disease phenotype-associated
VAR_029929 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029930 commonName VAR_029930
VAR_029930 disease phenotype-associated
VAR_029930 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029931 commonName VAR_029931
VAR_029931 disease phenotype-associated
VAR_029931 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029932 commonName VAR_029932
VAR_029932 disease phenotype-associated
VAR_029932 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029933 commonName VAR_029933
VAR_029933 disease phenotype-associated
VAR_029933 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029934 commonName VAR_029934
VAR_029934 disease phenotype-associated
VAR_029934 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029935 commonName VAR_029935
VAR_029935 disease phenotype-associated
VAR_029935 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029936 commonName VAR_029936
VAR_029936 disease phenotype-associated
VAR_029936 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029937 commonName VAR_029937
VAR_029937 disease phenotype-associated
VAR_029937 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029938 commonName VAR_029938
VAR_029938 disease phenotype-associated
VAR_029938 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029939 commonName VAR_029939
VAR_029939 disease phenotype-associated
VAR_029939 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029940 commonName VAR_029940
VAR_029940 disease phenotype-associated
VAR_029940 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029941 commonName VAR_029941
VAR_029941 disease phenotype-associated
VAR_029941 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029942 commonName VAR_029942
VAR_029942 disease phenotype-associated
VAR_029942 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029943 commonName VAR_029943
VAR_029943 disease phenotype-associated
VAR_029943 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029944 commonName VAR_029944
VAR_029944 disease phenotype-associated
VAR_029944 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029945 commonName VAR_029945
VAR_029945 disease phenotype-associated
VAR_029945 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029946 commonName VAR_029946
VAR_029946 disease phenotype-associated
VAR_029946 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029947 commonName VAR_029947
VAR_029947 disease phenotype-associated
VAR_029947 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029948 commonName VAR_029948
VAR_029948 disease phenotype-associated
VAR_029948 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029949 commonName VAR_029949
VAR_029949 disease phenotype-associated
VAR_029949 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029950 commonName VAR_029950
VAR_029950 disease phenotype-associated
VAR_029950 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029952 commonName VAR_029952
VAR_029952 disease phenotype-associated
VAR_029952 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029953 commonName VAR_029953
VAR_029953 disease phenotype-associated
VAR_029953 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029954 commonName VAR_029954
VAR_029954 disease phenotype-associated
VAR_029954 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029955 commonName VAR_029955
VAR_029955 disease phenotype-associated
VAR_029955 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029956 commonName VAR_029956
VAR_029956 disease phenotype-associated
VAR_029956 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029957 commonName VAR_029957
VAR_029957 disease phenotype-associated
VAR_029957 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]
VAR_029958 commonName VAR_029958
VAR_029958 disease phenotype-associated
VAR_029958 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_029959 commonName VAR_029959
VAR_029959 disease phenotype-associated
VAR_029959 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
VAR_029960 commonName VAR_029960
VAR_029960 disease phenotype-associated
VAR_029960 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_029960 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
VAR_029961 commonName VAR_029961
VAR_029961 disease phenotype-associated
VAR_029961 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]
VAR_029963 commonName VAR_029963
VAR_029963 disease phenotype-associated
VAR_029963 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]
VAR_029964 commonName VAR_029964
VAR_029964 disease phenotype-associated
VAR_029964 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]
VAR_029965 commonName VAR_029965
VAR_029965 disease phenotype-associated
VAR_029965 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
VAR_029966 commonName VAR_029966
VAR_029966 disease phenotype-associated
VAR_029966 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_029967 commonName VAR_029967
VAR_029967 disease phenotype-associated
VAR_029967 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_029968 commonName VAR_029968
VAR_029968 disease phenotype-associated
VAR_029968 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_029970 commonName VAR_029970
VAR_029970 disease phenotype-associated
VAR_029970 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_029971 commonName VAR_029971
VAR_029971 disease phenotype-associated
VAR_029971 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029972 commonName VAR_029972
VAR_029972 disease phenotype-associated
VAR_029972 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_029973 commonName VAR_029973
VAR_029973 disease phenotype-associated
VAR_029973 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]
VAR_029974 commonName VAR_029974
VAR_029974 disease phenotype-associated
VAR_029974 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029975 commonName VAR_029975
VAR_029975 disease phenotype-associated
VAR_029975 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]
VAR_029976 commonName VAR_029976
VAR_029976 disease phenotype-associated
VAR_029976 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_029977 commonName VAR_029977
VAR_029978 commonName VAR_029978
VAR_029978 disease phenotype-associated
VAR_029978 phenoCommon Congenital hypomyelination neuropathy (CHN) [MIM:605253]
VAR_029979 commonName VAR_029979
VAR_029979 disease phenotype-associated
VAR_029979 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029980 commonName VAR_029980
VAR_029980 disease phenotype-associated
VAR_029980 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029981 commonName VAR_029981
VAR_029981 disease phenotype-associated
VAR_029981 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029982 commonName VAR_029982
VAR_029982 disease phenotype-associated
VAR_029982 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029983 commonName VAR_029983
VAR_029983 disease phenotype-associated
VAR_029983 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029984 commonName VAR_029984
VAR_029984 disease phenotype-associated
VAR_029984 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029985 commonName VAR_029985
VAR_029985 disease phenotype-associated
VAR_029985 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_029989 commonName VAR_029989
VAR_029989 disease not phenotype-associated
VAR_029990 commonName VAR_029990
VAR_029990 disease not phenotype-associated
VAR_029991 commonName VAR_029991
VAR_029991 disease not phenotype-associated
VAR_029992 commonName VAR_029992
VAR_029992 disease not phenotype-associated
VAR_029993 commonName VAR_029993
VAR_029993 disease not phenotype-associated
VAR_029994 commonName VAR_029994
VAR_029994 disease not phenotype-associated
VAR_029995 commonName VAR_029995
VAR_029995 disease not phenotype-associated
VAR_029996 commonName VAR_029996
VAR_029996 disease not phenotype-associated
VAR_029997 commonName VAR_029997
VAR_029997 disease phenotype-associated
VAR_029997 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_029998 commonName VAR_029998
VAR_029998 disease phenotype-associated
VAR_029998 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_029999 commonName VAR_029999
VAR_029999 disease phenotype-associated
VAR_029999 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
VAR_030000 commonName VAR_030000
VAR_030000 disease not phenotype-associated
VAR_030001 commonName VAR_030001
VAR_030001 disease not phenotype-associated
VAR_030002 commonName VAR_030002
VAR_030002 disease not phenotype-associated
VAR_030003 commonName VAR_030003
VAR_030003 disease not phenotype-associated
VAR_030004 commonName VAR_030004
VAR_030004 disease not phenotype-associated
VAR_030005 commonName VAR_030005
VAR_030005 disease not phenotype-associated
VAR_030006 commonName VAR_030006
VAR_030006 disease not phenotype-associated
VAR_030007 commonName VAR_030007
VAR_030007 disease not phenotype-associated
VAR_030008 commonName VAR_030008
VAR_030008 disease not phenotype-associated
VAR_030009 commonName VAR_030009
VAR_030009 disease not phenotype-associated
VAR_030010 commonName VAR_030010
VAR_030010 disease not phenotype-associated
VAR_030011 commonName VAR_030011
VAR_030011 disease not phenotype-associated
VAR_030012 commonName VAR_030012
VAR_030012 disease not phenotype-associated
VAR_030013 commonName VAR_030013
VAR_030013 disease not phenotype-associated
VAR_030014 commonName VAR_030014
VAR_030014 disease not phenotype-associated
VAR_030015 commonName VAR_030015
VAR_030015 disease not phenotype-associated
VAR_030016 commonName VAR_030016
VAR_030016 disease not phenotype-associated
VAR_030017 commonName VAR_030017
VAR_030017 disease not phenotype-associated
VAR_030018 commonName VAR_030018
VAR_030018 disease not phenotype-associated
VAR_030019 commonName VAR_030019
VAR_030019 disease phenotype-associated
VAR_030019 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044]
VAR_030020 commonName VAR_030020
VAR_030021 commonName VAR_030021
VAR_030021 disease phenotype-associated
VAR_030021 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_030022 commonName VAR_030022
VAR_030022 disease phenotype-associated
VAR_030022 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_030023 commonName VAR_030023
VAR_030023 disease phenotype-associated
VAR_030023 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]
VAR_030024 commonName VAR_030024
VAR_030024 disease not phenotype-associated
VAR_030025 commonName VAR_030025
VAR_030025 disease not phenotype-associated
VAR_030026 commonName VAR_030026
VAR_030026 disease phenotype-associated
VAR_030026 phenoCommon Dystonia juvenile-onset (DYTJ) [MIM:607371]
VAR_030027 commonName VAR_030027
VAR_030027 disease not phenotype-associated
VAR_030028 commonName VAR_030028
VAR_030028 disease phenotype-associated
VAR_030028 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
VAR_030029 commonName VAR_030029
VAR_030029 disease phenotype-associated
VAR_030029 phenoCommon Familial porencephaly (POREN1) [MIM:175780]
VAR_030030 commonName VAR_030030
VAR_030030 disease phenotype-associated
VAR_030030 phenoCommon Familial porencephaly (POREN1) [MIM:175780]
VAR_030031 commonName VAR_030031
VAR_030031 disease phenotype-associated
VAR_030031 phenoCommon Familial porencephaly (POREN1) [MIM:175780]
VAR_030032 commonName VAR_030032
VAR_030032 disease phenotype-associated
VAR_030032 phenoCommon Familial porencephaly (POREN1) [MIM:175780]
VAR_030033 commonName VAR_030033
VAR_030033 disease not phenotype-associated
VAR_030034 commonName VAR_030034
VAR_030034 disease not phenotype-associated
VAR_030035 commonName VAR_030035
VAR_030035 disease not phenotype-associated
VAR_030036 commonName VAR_030036
VAR_030036 disease not phenotype-associated
VAR_030037 commonName VAR_030037
VAR_030037 disease not phenotype-associated
VAR_030038 commonName VAR_030038
VAR_030038 disease not phenotype-associated
VAR_030039 commonName VAR_030039
VAR_030039 disease not phenotype-associated
VAR_030040 commonName VAR_030040
VAR_030040 disease not phenotype-associated
VAR_030042 commonName VAR_030042
VAR_030042 disease not phenotype-associated
VAR_030044 commonName VAR_030044
VAR_030044 disease not phenotype-associated
VAR_030045 commonName VAR_030045
VAR_030045 disease not phenotype-associated
VAR_030046 commonName VAR_030046
VAR_030046 disease phenotype-associated
VAR_030046 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030047 commonName VAR_030047
VAR_030047 disease phenotype-associated
VAR_030047 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030048 commonName VAR_030048
VAR_030048 disease phenotype-associated
VAR_030048 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_030048 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030049 commonName VAR_030049
VAR_030049 disease phenotype-associated
VAR_030049 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030050 commonName VAR_030050
VAR_030050 disease phenotype-associated
VAR_030050 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030051 commonName VAR_030051
VAR_030051 disease phenotype-associated
VAR_030051 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030052 commonName VAR_030052
VAR_030052 disease phenotype-associated
VAR_030052 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030053 commonName VAR_030053
VAR_030053 disease phenotype-associated
VAR_030053 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030054 commonName VAR_030054
VAR_030054 disease phenotype-associated
VAR_030054 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_030057 commonName VAR_030057
VAR_030057 disease phenotype-associated
VAR_030057 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030058 commonName VAR_030058
VAR_030059 commonName VAR_030059
VAR_030059 disease phenotype-associated
VAR_030059 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030060 commonName VAR_030060
VAR_030060 disease phenotype-associated
VAR_030060 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030061 commonName VAR_030061
VAR_030061 disease phenotype-associated
VAR_030061 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030062 commonName VAR_030062
VAR_030063 commonName VAR_030063
VAR_030063 disease phenotype-associated
VAR_030063 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030064 commonName VAR_030064
VAR_030064 disease phenotype-associated
VAR_030064 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030065 commonName VAR_030065
VAR_030065 disease phenotype-associated
VAR_030065 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069]
VAR_030066 commonName VAR_030066
VAR_030067 commonName VAR_030067
VAR_030068 commonName VAR_030068
VAR_030068 disease not phenotype-associated
VAR_030069 commonName VAR_030069
VAR_030069 disease not phenotype-associated
VAR_030070 commonName VAR_030070
VAR_030070 disease not phenotype-associated
VAR_030071 commonName VAR_030071
VAR_030071 disease not phenotype-associated
VAR_030072 commonName VAR_030072
VAR_030072 disease not phenotype-associated
VAR_030073 commonName VAR_030073
VAR_030073 disease not phenotype-associated
VAR_030074 commonName VAR_030074
VAR_030074 disease not phenotype-associated
VAR_030075 commonName VAR_030075
VAR_030075 disease not phenotype-associated
VAR_030076 commonName VAR_030076
VAR_030076 disease not phenotype-associated
VAR_030077 commonName VAR_030077
VAR_030077 disease not phenotype-associated
VAR_030078 commonName VAR_030078
VAR_030078 disease not phenotype-associated
VAR_030079 commonName VAR_030079
VAR_030079 disease not phenotype-associated
VAR_030080 commonName VAR_030080
VAR_030080 disease not phenotype-associated
VAR_030081 commonName VAR_030081
VAR_030081 disease not phenotype-associated
VAR_030082 commonName VAR_030082
VAR_030082 disease not phenotype-associated
VAR_030083 commonName VAR_030083
VAR_030083 disease phenotype-associated
VAR_030083 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030084 commonName VAR_030084
VAR_030084 disease phenotype-associated
VAR_030084 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030085 commonName VAR_030085
VAR_030085 disease phenotype-associated
VAR_030085 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030086 commonName VAR_030086
VAR_030086 disease phenotype-associated
VAR_030086 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030087 commonName VAR_030087
VAR_030087 disease phenotype-associated
VAR_030087 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030088 commonName VAR_030088
VAR_030088 disease phenotype-associated
VAR_030088 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030089 commonName VAR_030089
VAR_030089 disease phenotype-associated
VAR_030089 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030090 commonName VAR_030090
VAR_030090 disease phenotype-associated
VAR_030090 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_030091 commonName VAR_030091
VAR_030091 disease not phenotype-associated
VAR_030092 commonName VAR_030092
VAR_030092 disease not phenotype-associated
VAR_030093 commonName VAR_030093
VAR_030093 disease not phenotype-associated
VAR_030095 commonName VAR_030095
VAR_030095 disease not phenotype-associated
VAR_030096 commonName VAR_030096
VAR_030096 disease not phenotype-associated
VAR_030097 commonName VAR_030097
VAR_030097 disease not phenotype-associated
VAR_030098 commonName VAR_030098
VAR_030098 disease not phenotype-associated
VAR_030101 commonName VAR_030101
VAR_030101 disease not phenotype-associated
VAR_030102 commonName VAR_030102
VAR_030102 disease not phenotype-associated
VAR_030103 commonName VAR_030103
VAR_030103 disease not phenotype-associated
VAR_030104 commonName VAR_030104
VAR_030104 disease not phenotype-associated
VAR_030105 commonName VAR_030105
VAR_030105 disease not phenotype-associated
VAR_030106 commonName VAR_030106
VAR_030106 disease not phenotype-associated
VAR_030107 commonName VAR_030107
VAR_030107 disease not phenotype-associated
VAR_030108 commonName VAR_030108
VAR_030108 disease not phenotype-associated
VAR_030109 commonName VAR_030109
VAR_030109 disease not phenotype-associated
VAR_030110 commonName VAR_030110
VAR_030110 disease not phenotype-associated
VAR_030111 commonName VAR_030111
VAR_030111 disease not phenotype-associated
VAR_030112 commonName VAR_030112
VAR_030112 disease not phenotype-associated
VAR_030113 commonName VAR_030113
VAR_030113 disease not phenotype-associated
VAR_030114 commonName VAR_030114
VAR_030114 disease not phenotype-associated
VAR_030115 commonName VAR_030115
VAR_030115 disease not phenotype-associated
VAR_030116 commonName VAR_030116
VAR_030116 disease not phenotype-associated
VAR_030118 commonName VAR_030118
VAR_030118 disease not phenotype-associated
VAR_030119 commonName VAR_030119
VAR_030119 disease not phenotype-associated
VAR_030121 commonName VAR_030121
VAR_030121 disease not phenotype-associated
VAR_030122 commonName VAR_030122
VAR_030122 disease not phenotype-associated
VAR_030123 commonName VAR_030123
VAR_030123 disease not phenotype-associated
VAR_030124 commonName VAR_030124
VAR_030124 disease not phenotype-associated
VAR_030126 commonName VAR_030126
VAR_030126 disease not phenotype-associated
VAR_030127 commonName VAR_030127
VAR_030127 disease not phenotype-associated
VAR_030129 commonName VAR_030129
VAR_030129 disease not phenotype-associated
VAR_030130 commonName VAR_030130
VAR_030130 disease not phenotype-associated
VAR_030131 commonName VAR_030131
VAR_030131 disease not phenotype-associated
VAR_030132 commonName VAR_030132
VAR_030132 disease not phenotype-associated
VAR_030133 commonName VAR_030133
VAR_030133 disease not phenotype-associated
VAR_030134 commonName VAR_030134
VAR_030134 disease not phenotype-associated
VAR_030135 commonName VAR_030135
VAR_030135 disease not phenotype-associated
VAR_030136 commonName VAR_030136
VAR_030136 disease not phenotype-associated
VAR_030137 commonName VAR_030137
VAR_030137 disease not phenotype-associated
VAR_030138 commonName VAR_030138
VAR_030138 disease not phenotype-associated
VAR_030139 commonName VAR_030139
VAR_030139 disease not phenotype-associated
VAR_030140 commonName VAR_030140
VAR_030140 disease not phenotype-associated
VAR_030141 commonName VAR_030141
VAR_030141 disease not phenotype-associated
VAR_030142 commonName VAR_030142
VAR_030142 disease not phenotype-associated
VAR_030143 commonName VAR_030143
VAR_030143 disease not phenotype-associated
VAR_030144 commonName VAR_030144
VAR_030144 disease not phenotype-associated
VAR_030145 commonName VAR_030145
VAR_030145 disease not phenotype-associated
VAR_030146 commonName VAR_030146
VAR_030146 disease not phenotype-associated
VAR_030147 commonName VAR_030147
VAR_030147 disease not phenotype-associated
VAR_030148 commonName VAR_030148
VAR_030148 disease not phenotype-associated
VAR_030149 commonName VAR_030149
VAR_030149 disease not phenotype-associated
VAR_030150 commonName VAR_030150
VAR_030150 disease not phenotype-associated
VAR_030151 commonName VAR_030151
VAR_030151 disease not phenotype-associated
VAR_030152 commonName VAR_030152
VAR_030152 disease not phenotype-associated
VAR_030153 commonName VAR_030153
VAR_030153 disease not phenotype-associated
VAR_030154 commonName VAR_030154
VAR_030154 disease not phenotype-associated
VAR_030158 commonName VAR_030158
VAR_030158 disease not phenotype-associated
VAR_030159 commonName VAR_030159
VAR_030159 disease not phenotype-associated
VAR_030164 commonName VAR_030164
VAR_030164 disease not phenotype-associated
VAR_030165 commonName VAR_030165
VAR_030165 disease not phenotype-associated
VAR_030166 commonName VAR_030166
VAR_030166 disease not phenotype-associated
VAR_030167 commonName VAR_030167
VAR_030167 disease not phenotype-associated
VAR_030168 commonName VAR_030168
VAR_030168 disease not phenotype-associated
VAR_030169 commonName VAR_030169
VAR_030169 disease not phenotype-associated
VAR_030170 commonName VAR_030170
VAR_030170 disease not phenotype-associated
VAR_030171 commonName VAR_030171
VAR_030171 disease not phenotype-associated
VAR_030172 commonName VAR_030172
VAR_030172 disease not phenotype-associated
VAR_030173 commonName VAR_030173
VAR_030173 disease not phenotype-associated
VAR_030174 commonName VAR_030174
VAR_030174 disease not phenotype-associated
VAR_030175 commonName VAR_030175
VAR_030175 disease not phenotype-associated
VAR_030176 commonName VAR_030176
VAR_030176 disease not phenotype-associated
VAR_030177 commonName VAR_030177
VAR_030177 disease not phenotype-associated
VAR_030178 commonName VAR_030178
VAR_030178 disease not phenotype-associated
VAR_030179 commonName VAR_030179
VAR_030179 disease not phenotype-associated
VAR_030180 commonName VAR_030180
VAR_030180 disease not phenotype-associated
VAR_030181 commonName VAR_030181
VAR_030181 disease not phenotype-associated
VAR_030182 commonName VAR_030182
VAR_030182 disease not phenotype-associated
VAR_030183 commonName VAR_030183
VAR_030183 disease not phenotype-associated
VAR_030184 commonName VAR_030184
VAR_030184 disease not phenotype-associated
VAR_030185 commonName VAR_030185
VAR_030185 disease not phenotype-associated
VAR_030193 commonName VAR_030193
VAR_030193 disease not phenotype-associated
VAR_030194 commonName VAR_030194
VAR_030194 disease not phenotype-associated
VAR_030195 commonName VAR_030195
VAR_030195 disease not phenotype-associated
VAR_030196 commonName VAR_030196
VAR_030196 disease not phenotype-associated
VAR_030197 commonName VAR_030197
VAR_030197 disease not phenotype-associated
VAR_030198 commonName VAR_030198
VAR_030198 disease not phenotype-associated
VAR_030199 commonName VAR_030199
VAR_030199 disease not phenotype-associated
VAR_030200 commonName VAR_030200
VAR_030200 disease not phenotype-associated
VAR_030201 commonName VAR_030201
VAR_030201 disease not phenotype-associated
VAR_030202 commonName VAR_030202
VAR_030202 disease not phenotype-associated
VAR_030203 commonName VAR_030203
VAR_030203 disease not phenotype-associated
VAR_030204 commonName VAR_030204
VAR_030204 disease not phenotype-associated
VAR_030205 commonName VAR_030205
VAR_030205 disease not phenotype-associated
VAR_030206 commonName VAR_030206
VAR_030206 disease not phenotype-associated
VAR_030207 commonName VAR_030207
VAR_030207 disease not phenotype-associated
VAR_030208 commonName VAR_030208
VAR_030208 disease not phenotype-associated
VAR_030209 commonName VAR_030209
VAR_030209 disease not phenotype-associated
VAR_030210 commonName VAR_030210
VAR_030210 disease not phenotype-associated
VAR_030214 commonName VAR_030214
VAR_030214 disease not phenotype-associated
VAR_030215 commonName VAR_030215
VAR_030215 disease not phenotype-associated
VAR_030216 commonName VAR_030216
VAR_030216 disease not phenotype-associated
VAR_030217 commonName VAR_030217
VAR_030217 disease not phenotype-associated
VAR_030218 commonName VAR_030218
VAR_030218 disease not phenotype-associated
VAR_030220 commonName VAR_030220
VAR_030220 disease not phenotype-associated
VAR_030221 commonName VAR_030221
VAR_030221 disease not phenotype-associated
VAR_030222 commonName VAR_030222
VAR_030222 disease not phenotype-associated
VAR_030223 commonName VAR_030223
VAR_030223 disease not phenotype-associated
VAR_030224 commonName VAR_030224
VAR_030224 disease not phenotype-associated
VAR_030225 commonName VAR_030225
VAR_030225 disease not phenotype-associated
VAR_030226 commonName VAR_030226
VAR_030226 disease not phenotype-associated
VAR_030227 commonName VAR_030227
VAR_030227 disease not phenotype-associated
VAR_030228 commonName VAR_030228
VAR_030228 disease not phenotype-associated
VAR_030229 commonName VAR_030229
VAR_030229 disease not phenotype-associated
VAR_030230 commonName VAR_030230
VAR_030230 disease not phenotype-associated
VAR_030231 commonName VAR_030231
VAR_030231 disease not phenotype-associated
VAR_030232 commonName VAR_030232
VAR_030232 disease not phenotype-associated
VAR_030233 commonName VAR_030233
VAR_030233 disease not phenotype-associated
VAR_030234 commonName VAR_030234
VAR_030234 disease not phenotype-associated
VAR_030235 commonName VAR_030235
VAR_030235 disease not phenotype-associated
VAR_030236 commonName VAR_030236
VAR_030236 disease not phenotype-associated
VAR_030237 commonName VAR_030237
VAR_030237 disease not phenotype-associated
VAR_030238 commonName VAR_030238
VAR_030238 disease not phenotype-associated
VAR_030239 commonName VAR_030239
VAR_030239 disease not phenotype-associated
VAR_030240 commonName VAR_030240
VAR_030240 disease not phenotype-associated
VAR_030241 commonName VAR_030241
VAR_030241 disease not phenotype-associated
VAR_030242 commonName VAR_030242
VAR_030242 disease not phenotype-associated
VAR_030246 commonName VAR_030246
VAR_030246 disease not phenotype-associated
VAR_030247 commonName VAR_030247
VAR_030247 disease not phenotype-associated
VAR_030248 commonName VAR_030248
VAR_030248 disease not phenotype-associated
VAR_030249 commonName VAR_030249
VAR_030249 disease not phenotype-associated
VAR_030250 commonName VAR_030250
VAR_030250 disease not phenotype-associated
VAR_030252 commonName VAR_030252
VAR_030252 disease not phenotype-associated
VAR_030253 commonName VAR_030253
VAR_030253 disease not phenotype-associated
VAR_030254 commonName VAR_030254
VAR_030254 disease not phenotype-associated
VAR_030255 commonName VAR_030255
VAR_030255 disease not phenotype-associated
VAR_030256 commonName VAR_030256
VAR_030256 disease not phenotype-associated
VAR_030260 commonName VAR_030260
VAR_030260 disease not phenotype-associated
VAR_030261 commonName VAR_030261
VAR_030261 disease not phenotype-associated
VAR_030262 commonName VAR_030262
VAR_030262 disease not phenotype-associated
VAR_030263 commonName VAR_030263
VAR_030263 disease not phenotype-associated
VAR_030264 commonName VAR_030264
VAR_030264 disease not phenotype-associated
VAR_030265 commonName VAR_030265
VAR_030265 disease not phenotype-associated
VAR_030266 commonName VAR_030266
VAR_030266 disease not phenotype-associated
VAR_030269 commonName VAR_030269
VAR_030269 disease not phenotype-associated
VAR_030270 commonName VAR_030270
VAR_030270 disease not phenotype-associated
VAR_030271 commonName VAR_030271
VAR_030271 disease not phenotype-associated
VAR_030272 commonName VAR_030272
VAR_030272 disease not phenotype-associated
VAR_030273 commonName VAR_030273
VAR_030273 disease not phenotype-associated
VAR_030274 commonName VAR_030274
VAR_030274 disease not phenotype-associated
VAR_030275 commonName VAR_030275
VAR_030275 disease not phenotype-associated
VAR_030276 commonName VAR_030276
VAR_030276 disease not phenotype-associated
VAR_030277 commonName VAR_030277
VAR_030277 disease not phenotype-associated
VAR_030278 commonName VAR_030278
VAR_030278 disease not phenotype-associated
VAR_030279 commonName VAR_030279
VAR_030279 disease not phenotype-associated
VAR_030280 commonName VAR_030280
VAR_030280 disease not phenotype-associated
VAR_030281 commonName VAR_030281
VAR_030281 disease not phenotype-associated
VAR_030284 commonName VAR_030284
VAR_030284 disease not phenotype-associated
VAR_030285 commonName VAR_030285
VAR_030285 disease not phenotype-associated
VAR_030286 commonName VAR_030286
VAR_030286 disease not phenotype-associated
VAR_030287 commonName VAR_030287
VAR_030287 disease not phenotype-associated
VAR_030288 commonName VAR_030288
VAR_030288 disease not phenotype-associated
VAR_030291 commonName VAR_030291
VAR_030291 disease not phenotype-associated
VAR_030292 commonName VAR_030292
VAR_030292 disease not phenotype-associated
VAR_030293 commonName VAR_030293
VAR_030293 disease not phenotype-associated
VAR_030294 commonName VAR_030294
VAR_030294 disease not phenotype-associated
VAR_030295 commonName VAR_030295
VAR_030295 disease not phenotype-associated
VAR_030296 commonName VAR_030296
VAR_030296 disease not phenotype-associated
VAR_030297 commonName VAR_030297
VAR_030297 disease not phenotype-associated
VAR_030298 commonName VAR_030298
VAR_030298 disease not phenotype-associated
VAR_030299 commonName VAR_030299
VAR_030299 disease not phenotype-associated
VAR_030300 commonName VAR_030300
VAR_030300 disease not phenotype-associated
VAR_030301 commonName VAR_030301
VAR_030301 disease not phenotype-associated
VAR_030302 commonName VAR_030302
VAR_030302 disease not phenotype-associated
VAR_030303 commonName VAR_030303
VAR_030303 disease not phenotype-associated
VAR_030304 commonName VAR_030304
VAR_030304 disease not phenotype-associated
VAR_030305 commonName VAR_030305
VAR_030305 disease not phenotype-associated
VAR_030306 commonName VAR_030306
VAR_030306 disease not phenotype-associated
VAR_030309 commonName VAR_030309
VAR_030309 disease not phenotype-associated
VAR_030310 commonName VAR_030310
VAR_030310 disease not phenotype-associated
VAR_030311 commonName VAR_030311
VAR_030311 disease not phenotype-associated
VAR_030312 commonName VAR_030312
VAR_030312 disease phenotype-associated
VAR_030312 phenoCommon Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]
VAR_030313 commonName VAR_030313
VAR_030313 disease not phenotype-associated
VAR_030314 commonName VAR_030314
VAR_030314 disease phenotype-associated
VAR_030314 phenoCommon Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643]
VAR_030315 commonName VAR_030315
VAR_030315 disease not phenotype-associated
VAR_030316 commonName VAR_030316
VAR_030316 disease not phenotype-associated
VAR_030317 commonName VAR_030317
VAR_030317 disease not phenotype-associated
VAR_030318 commonName VAR_030318
VAR_030318 disease not phenotype-associated
VAR_030320 commonName VAR_030320
VAR_030320 disease not phenotype-associated
VAR_030321 commonName VAR_030321
VAR_030321 disease not phenotype-associated
VAR_030322 commonName VAR_030322
VAR_030322 disease not phenotype-associated
VAR_030325 commonName VAR_030325
VAR_030325 disease not phenotype-associated
VAR_030326 commonName VAR_030326
VAR_030326 disease not phenotype-associated
VAR_030327 commonName VAR_030327
VAR_030327 disease not phenotype-associated
VAR_030328 commonName VAR_030328
VAR_030328 disease not phenotype-associated
VAR_030329 commonName VAR_030329
VAR_030329 disease not phenotype-associated
VAR_030330 commonName VAR_030330
VAR_030330 disease not phenotype-associated
VAR_030331 commonName VAR_030331
VAR_030331 disease not phenotype-associated
VAR_030332 commonName VAR_030332
VAR_030332 disease not phenotype-associated
VAR_030333 commonName VAR_030333
VAR_030333 disease not phenotype-associated
VAR_030334 commonName VAR_030334
VAR_030334 disease not phenotype-associated
VAR_030335 commonName VAR_030335
VAR_030335 disease not phenotype-associated
VAR_030336 commonName VAR_030336
VAR_030336 disease not phenotype-associated
VAR_030337 commonName VAR_030337
VAR_030337 disease not phenotype-associated
VAR_030338 commonName VAR_030338
VAR_030338 disease not phenotype-associated
VAR_030339 commonName VAR_030339
VAR_030339 disease not phenotype-associated
VAR_030340 commonName VAR_030340
VAR_030340 disease not phenotype-associated
VAR_030341 commonName VAR_030341
VAR_030341 disease not phenotype-associated
VAR_030343 commonName VAR_030343
VAR_030343 disease phenotype-associated
VAR_030343 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_030345 commonName VAR_030345
VAR_030345 disease phenotype-associated
VAR_030345 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902]
VAR_030346 commonName VAR_030346
VAR_030346 disease phenotype-associated
VAR_030346 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902]
VAR_030347 commonName VAR_030347
VAR_030347 disease not phenotype-associated
VAR_030348 commonName VAR_030348
VAR_030348 disease not phenotype-associated
VAR_030349 commonName VAR_030349
VAR_030349 disease not phenotype-associated
VAR_030350 commonName VAR_030350
VAR_030350 disease not phenotype-associated
VAR_030351 commonName VAR_030351
VAR_030351 disease not phenotype-associated
VAR_030352 commonName VAR_030352
VAR_030352 disease not phenotype-associated
VAR_030353 commonName VAR_030353
VAR_030353 disease not phenotype-associated
VAR_030355 commonName VAR_030355
VAR_030355 disease not phenotype-associated
VAR_030356 commonName VAR_030356
VAR_030356 disease not phenotype-associated
VAR_030357 commonName VAR_030357
VAR_030357 disease not phenotype-associated
VAR_030359 commonName VAR_030359
VAR_030359 disease not phenotype-associated
VAR_030360 commonName VAR_030360
VAR_030360 disease not phenotype-associated
VAR_030362 commonName VAR_030362
VAR_030362 disease not phenotype-associated
VAR_030363 commonName VAR_030363
VAR_030363 disease not phenotype-associated
VAR_030364 commonName VAR_030364
VAR_030364 disease not phenotype-associated
VAR_030365 commonName VAR_030365
VAR_030365 disease not phenotype-associated
VAR_030366 commonName VAR_030366
VAR_030366 disease not phenotype-associated
VAR_030367 commonName VAR_030367
VAR_030367 disease not phenotype-associated
VAR_030368 commonName VAR_030368
VAR_030368 disease not phenotype-associated
VAR_030369 commonName VAR_030369
VAR_030369 disease not phenotype-associated
VAR_030370 commonName VAR_030370
VAR_030370 disease phenotype-associated
VAR_030370 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030370 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030371 commonName VAR_030371
VAR_030371 disease phenotype-associated
VAR_030371 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030372 commonName VAR_030372
VAR_030372 disease phenotype-associated
VAR_030372 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030373 commonName VAR_030373
VAR_030373 disease phenotype-associated
VAR_030373 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030374 commonName VAR_030374
VAR_030374 disease phenotype-associated
VAR_030374 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030375 commonName VAR_030375
VAR_030375 disease phenotype-associated
VAR_030375 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030376 commonName VAR_030376
VAR_030376 disease phenotype-associated
VAR_030376 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030377 commonName VAR_030377
VAR_030377 disease phenotype-associated
VAR_030377 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030378 commonName VAR_030378
VAR_030378 disease phenotype-associated
VAR_030378 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030379 commonName VAR_030379
VAR_030379 disease phenotype-associated
VAR_030379 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030380 commonName VAR_030380
VAR_030380 disease phenotype-associated
VAR_030380 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700]
VAR_030381 commonName VAR_030381
VAR_030381 disease phenotype-associated
VAR_030381 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030383 commonName VAR_030383
VAR_030383 disease phenotype-associated
VAR_030383 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030384 commonName VAR_030384
VAR_030384 disease phenotype-associated
VAR_030384 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680]
VAR_030385 commonName VAR_030385
VAR_030385 disease phenotype-associated
VAR_030385 phenoCommon Epstein syndrome (EPS) [MIM:153650]
VAR_030386 commonName VAR_030386
VAR_030386 disease phenotype-associated
VAR_030386 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
VAR_030387 commonName VAR_030387
VAR_030387 disease not phenotype-associated
VAR_030388 commonName VAR_030388
VAR_030388 disease phenotype-associated
VAR_030388 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_030389 commonName VAR_030389
VAR_030389 disease not phenotype-associated
VAR_030390 commonName VAR_030390
VAR_030390 disease phenotype-associated
VAR_030390 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
VAR_030391 commonName VAR_030391
VAR_030391 disease phenotype-associated
VAR_030391 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
VAR_030392 commonName VAR_030392
VAR_030392 disease phenotype-associated
VAR_030392 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
VAR_030393 commonName VAR_030393
VAR_030393 disease not phenotype-associated
VAR_030399 commonName VAR_030399
VAR_030399 disease phenotype-associated
VAR_030399 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800]
VAR_030400 commonName VAR_030400
VAR_030400 disease phenotype-associated
VAR_030400 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800]
VAR_030401 commonName VAR_030401
VAR_030401 disease phenotype-associated
VAR_030401 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800]
VAR_030402 commonName VAR_030402
VAR_030402 disease phenotype-associated
VAR_030402 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800]
VAR_030403 commonName VAR_030403
VAR_030403 disease not phenotype-associated
VAR_030404 commonName VAR_030404
VAR_030404 disease phenotype-associated
VAR_030404 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030405 commonName VAR_030405
VAR_030405 disease phenotype-associated
VAR_030405 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_030406 commonName VAR_030406
VAR_030406 disease phenotype-associated
VAR_030406 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_030407 commonName VAR_030407
VAR_030407 disease phenotype-associated
VAR_030407 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030408 commonName VAR_030408
VAR_030408 disease phenotype-associated
VAR_030408 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030409 commonName VAR_030409
VAR_030409 disease phenotype-associated
VAR_030409 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030410 commonName VAR_030410
VAR_030410 disease phenotype-associated
VAR_030410 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_030411 commonName VAR_030411
VAR_030411 disease phenotype-associated
VAR_030411 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
VAR_030412 commonName VAR_030412
VAR_030412 disease phenotype-associated
VAR_030412 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030414 commonName VAR_030414
VAR_030414 disease phenotype-associated
VAR_030414 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030415 commonName VAR_030415
VAR_030415 disease phenotype-associated
VAR_030415 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030416 commonName VAR_030416
VAR_030416 disease phenotype-associated
VAR_030416 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030417 commonName VAR_030417
VAR_030417 disease not phenotype-associated
VAR_030418 commonName VAR_030418
VAR_030418 disease phenotype-associated
VAR_030418 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030419 commonName VAR_030419
VAR_030419 disease phenotype-associated
VAR_030419 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
VAR_030420 commonName VAR_030420
VAR_030420 disease not phenotype-associated
VAR_030421 commonName VAR_030421
VAR_030421 disease not phenotype-associated
VAR_030422 commonName VAR_030422
VAR_030422 disease not phenotype-associated
VAR_030423 commonName VAR_030423
VAR_030423 disease phenotype-associated
VAR_030423 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030424 commonName VAR_030424
VAR_030424 disease phenotype-associated
VAR_030424 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030425 commonName VAR_030425
VAR_030425 disease phenotype-associated
VAR_030425 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030426 commonName VAR_030426
VAR_030426 disease phenotype-associated
VAR_030426 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030427 commonName VAR_030427
VAR_030427 disease phenotype-associated
VAR_030427 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030428 commonName VAR_030428
VAR_030428 disease phenotype-associated
VAR_030428 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030429 commonName VAR_030429
VAR_030429 disease phenotype-associated
VAR_030429 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030430 commonName VAR_030430
VAR_030430 disease phenotype-associated
VAR_030430 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030431 commonName VAR_030431
VAR_030431 disease phenotype-associated
VAR_030431 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030432 commonName VAR_030432
VAR_030432 disease phenotype-associated
VAR_030432 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030433 commonName VAR_030433
VAR_030433 disease phenotype-associated
VAR_030433 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030434 commonName VAR_030434
VAR_030434 disease phenotype-associated
VAR_030434 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030435 commonName VAR_030435
VAR_030435 disease phenotype-associated
VAR_030435 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030436 commonName VAR_030436
VAR_030436 disease phenotype-associated
VAR_030436 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030437 commonName VAR_030437
VAR_030437 disease not phenotype-associated
VAR_030438 commonName VAR_030438
VAR_030438 disease phenotype-associated
VAR_030438 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030439 commonName VAR_030439
VAR_030439 disease phenotype-associated
VAR_030439 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030440 commonName VAR_030440
VAR_030440 disease phenotype-associated
VAR_030440 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030441 commonName VAR_030441
VAR_030441 disease phenotype-associated
VAR_030441 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_030442 commonName VAR_030442
VAR_030442 disease not phenotype-associated
VAR_030443 commonName VAR_030443
VAR_030443 disease not phenotype-associated
VAR_030445 commonName VAR_030445
VAR_030445 disease phenotype-associated
VAR_030445 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030446 commonName VAR_030446
VAR_030446 disease phenotype-associated
VAR_030446 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030447 commonName VAR_030447
VAR_030447 disease phenotype-associated
VAR_030447 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030448 commonName VAR_030448
VAR_030448 disease phenotype-associated
VAR_030448 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030449 commonName VAR_030449
VAR_030449 disease phenotype-associated
VAR_030449 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030450 commonName VAR_030450
VAR_030450 disease phenotype-associated
VAR_030450 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030451 commonName VAR_030451
VAR_030451 disease phenotype-associated
VAR_030451 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030452 commonName VAR_030452
VAR_030452 disease phenotype-associated
VAR_030452 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030453 commonName VAR_030453
VAR_030453 disease phenotype-associated
VAR_030453 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030454 commonName VAR_030454
VAR_030454 disease phenotype-associated
VAR_030454 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030455 commonName VAR_030455
VAR_030455 disease phenotype-associated
VAR_030455 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030456 commonName VAR_030456
VAR_030456 disease phenotype-associated
VAR_030456 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030457 commonName VAR_030457
VAR_030457 disease phenotype-associated
VAR_030457 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030459 commonName VAR_030459
VAR_030459 disease phenotype-associated
VAR_030459 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030460 commonName VAR_030460
VAR_030460 disease phenotype-associated
VAR_030460 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030461 commonName VAR_030461
VAR_030461 disease phenotype-associated
VAR_030461 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030462 commonName VAR_030462
VAR_030462 disease phenotype-associated
VAR_030462 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030463 commonName VAR_030463
VAR_030463 disease phenotype-associated
VAR_030463 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030464 commonName VAR_030464
VAR_030464 disease phenotype-associated
VAR_030464 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030465 commonName VAR_030465
VAR_030465 disease phenotype-associated
VAR_030465 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030466 commonName VAR_030466
VAR_030466 disease phenotype-associated
VAR_030466 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030467 commonName VAR_030467
VAR_030467 disease not phenotype-associated
VAR_030468 commonName VAR_030468
VAR_030468 disease phenotype-associated
VAR_030468 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030469 commonName VAR_030469
VAR_030469 disease not phenotype-associated
VAR_030470 commonName VAR_030470
VAR_030470 disease not phenotype-associated
VAR_030471 commonName VAR_030471
VAR_030471 disease not phenotype-associated
VAR_030472 commonName VAR_030472
VAR_030472 disease not phenotype-associated
VAR_030473 commonName VAR_030473
VAR_030473 disease phenotype-associated
VAR_030473 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030474 commonName VAR_030474
VAR_030474 disease phenotype-associated
VAR_030474 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030475 commonName VAR_030475
VAR_030475 disease phenotype-associated
VAR_030475 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030476 commonName VAR_030476
VAR_030476 disease phenotype-associated
VAR_030476 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030477 commonName VAR_030477
VAR_030478 commonName VAR_030478
VAR_030478 disease phenotype-associated
VAR_030478 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030479 commonName VAR_030479
VAR_030479 disease phenotype-associated
VAR_030479 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030480 commonName VAR_030480
VAR_030480 disease phenotype-associated
VAR_030480 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030481 commonName VAR_030481
VAR_030481 disease phenotype-associated
VAR_030481 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030482 commonName VAR_030482
VAR_030482 disease phenotype-associated
VAR_030482 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030483 commonName VAR_030483
VAR_030483 disease phenotype-associated
VAR_030483 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030484 commonName VAR_030484
VAR_030484 disease phenotype-associated
VAR_030484 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030485 commonName VAR_030485
VAR_030485 disease phenotype-associated
VAR_030485 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030486 commonName VAR_030486
VAR_030486 disease phenotype-associated
VAR_030486 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800]
VAR_030487 commonName VAR_030487
VAR_030487 disease not phenotype-associated
VAR_030489 commonName VAR_030489
VAR_030489 disease not phenotype-associated
VAR_030490 commonName VAR_030490
VAR_030490 disease not phenotype-associated
VAR_030491 commonName VAR_030491
VAR_030491 disease not phenotype-associated
VAR_030492 commonName VAR_030492
VAR_030492 disease not phenotype-associated
VAR_030493 commonName VAR_030493
VAR_030493 disease not phenotype-associated
VAR_030494 commonName VAR_030494
VAR_030494 disease not phenotype-associated
VAR_030495 commonName VAR_030495
VAR_030495 disease not phenotype-associated
VAR_030496 commonName VAR_030496
VAR_030497 commonName VAR_030497
VAR_030498 commonName VAR_030498
VAR_030499 commonName VAR_030499
VAR_030500 commonName VAR_030500
VAR_030501 commonName VAR_030501
VAR_030501 disease not phenotype-associated
VAR_030502 commonName VAR_030502
VAR_030502 disease not phenotype-associated
VAR_030503 commonName VAR_030503
VAR_030503 disease not phenotype-associated
VAR_030504 commonName VAR_030504
VAR_030505 commonName VAR_030505
VAR_030505 disease not phenotype-associated
VAR_030506 commonName VAR_030506
VAR_030507 commonName VAR_030507
VAR_030507 disease not phenotype-associated
VAR_030508 commonName VAR_030508
VAR_030508 disease not phenotype-associated
VAR_030509 commonName VAR_030509
VAR_030510 commonName VAR_030510
VAR_030511 commonName VAR_030511
VAR_030511 disease not phenotype-associated
VAR_030512 commonName VAR_030512
VAR_030512 disease not phenotype-associated
VAR_030513 commonName VAR_030513
VAR_030513 disease not phenotype-associated
VAR_030514 commonName VAR_030514
VAR_030514 disease not phenotype-associated
VAR_030515 commonName VAR_030515
VAR_030515 disease not phenotype-associated
VAR_030516 commonName VAR_030516
VAR_030516 disease not phenotype-associated
VAR_030517 commonName VAR_030517
VAR_030517 disease not phenotype-associated
VAR_030518 commonName VAR_030518
VAR_030518 disease not phenotype-associated
VAR_030519 commonName VAR_030519
VAR_030519 disease not phenotype-associated
VAR_030520 commonName VAR_030520
VAR_030520 disease not phenotype-associated
VAR_030521 commonName VAR_030521
VAR_030521 disease not phenotype-associated
VAR_030522 commonName VAR_030522
VAR_030522 disease not phenotype-associated
VAR_030523 commonName VAR_030523
VAR_030523 disease not phenotype-associated
VAR_030524 commonName VAR_030524
VAR_030524 disease not phenotype-associated
VAR_030525 commonName VAR_030525
VAR_030525 disease not phenotype-associated
VAR_030526 commonName VAR_030526
VAR_030526 disease not phenotype-associated
VAR_030527 commonName VAR_030527
VAR_030527 disease not phenotype-associated
VAR_030528 commonName VAR_030528
VAR_030528 disease not phenotype-associated
VAR_030529 commonName VAR_030529
VAR_030529 disease not phenotype-associated
VAR_030530 commonName VAR_030530
VAR_030530 disease not phenotype-associated
VAR_030531 commonName VAR_030531
VAR_030531 disease not phenotype-associated
VAR_030532 commonName VAR_030532
VAR_030532 disease not phenotype-associated
VAR_030533 commonName VAR_030533
VAR_030533 disease not phenotype-associated
VAR_030534 commonName VAR_030534
VAR_030534 disease not phenotype-associated
VAR_030535 commonName VAR_030535
VAR_030535 disease not phenotype-associated
VAR_030536 commonName VAR_030536
VAR_030536 disease not phenotype-associated
VAR_030537 commonName VAR_030537
VAR_030537 disease not phenotype-associated
VAR_030538 commonName VAR_030538
VAR_030538 disease not phenotype-associated
VAR_030539 commonName VAR_030539
VAR_030539 disease not phenotype-associated
VAR_030540 commonName VAR_030540
VAR_030540 disease not phenotype-associated
VAR_030541 commonName VAR_030541
VAR_030541 disease not phenotype-associated
VAR_030542 commonName VAR_030542
VAR_030542 disease not phenotype-associated
VAR_030543 commonName VAR_030543
VAR_030543 disease not phenotype-associated
VAR_030544 commonName VAR_030544
VAR_030544 disease not phenotype-associated
VAR_030545 commonName VAR_030545
VAR_030545 disease not phenotype-associated
VAR_030546 commonName VAR_030546
VAR_030546 disease not phenotype-associated
VAR_030547 commonName VAR_030547
VAR_030547 disease not phenotype-associated
VAR_030548 commonName VAR_030548
VAR_030548 disease not phenotype-associated
VAR_030549 commonName VAR_030549
VAR_030549 disease not phenotype-associated
VAR_030550 commonName VAR_030550
VAR_030550 disease not phenotype-associated
VAR_030551 commonName VAR_030551
VAR_030551 disease not phenotype-associated
VAR_030553 commonName VAR_030553
VAR_030553 disease phenotype-associated
VAR_030553 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030554 commonName VAR_030554
VAR_030554 disease phenotype-associated
VAR_030554 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030555 commonName VAR_030555
VAR_030555 disease phenotype-associated
VAR_030555 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030556 commonName VAR_030556
VAR_030556 disease phenotype-associated
VAR_030556 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030557 commonName VAR_030557
VAR_030557 disease phenotype-associated
VAR_030557 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030558 commonName VAR_030558
VAR_030558 disease phenotype-associated
VAR_030558 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030559 commonName VAR_030559
VAR_030559 disease phenotype-associated
VAR_030559 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030560 commonName VAR_030560
VAR_030560 disease phenotype-associated
VAR_030560 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030561 commonName VAR_030561
VAR_030561 disease phenotype-associated
VAR_030561 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030562 commonName VAR_030562
VAR_030562 disease phenotype-associated
VAR_030562 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_030572 commonName VAR_030572
VAR_030572 disease not phenotype-associated
VAR_030573 commonName VAR_030573
VAR_030573 disease not phenotype-associated
VAR_030574 commonName VAR_030574
VAR_030574 disease not phenotype-associated
VAR_030575 commonName VAR_030575
VAR_030575 disease not phenotype-associated
VAR_030576 commonName VAR_030576
VAR_030576 disease not phenotype-associated
VAR_030578 commonName VAR_030578
VAR_030578 disease not phenotype-associated
VAR_030579 commonName VAR_030579
VAR_030579 disease not phenotype-associated
VAR_030580 commonName VAR_030580
VAR_030580 disease not phenotype-associated
VAR_030581 commonName VAR_030581
VAR_030581 disease not phenotype-associated
VAR_030582 commonName VAR_030582
VAR_030582 disease not phenotype-associated
VAR_030583 commonName VAR_030583
VAR_030583 disease not phenotype-associated
VAR_030584 commonName VAR_030584
VAR_030584 disease not phenotype-associated
VAR_030585 commonName VAR_030585
VAR_030585 disease not phenotype-associated
VAR_030590 commonName VAR_030590
VAR_030590 disease not phenotype-associated
VAR_030591 commonName VAR_030591
VAR_030591 disease not phenotype-associated
VAR_030592 commonName VAR_030592
VAR_030592 disease not phenotype-associated
VAR_030593 commonName VAR_030593
VAR_030593 disease not phenotype-associated
VAR_030594 commonName VAR_030594
VAR_030594 disease not phenotype-associated
VAR_030595 commonName VAR_030595
VAR_030595 disease phenotype-associated
VAR_030595 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_030596 commonName VAR_030596
VAR_030596 disease phenotype-associated
VAR_030596 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_030597 commonName VAR_030597
VAR_030597 disease phenotype-associated
VAR_030597 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_030598 commonName VAR_030598
VAR_030598 disease phenotype-associated
VAR_030598 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_030599 commonName VAR_030599
VAR_030599 disease phenotype-associated
VAR_030599 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_030600 commonName VAR_030600
VAR_030600 disease not phenotype-associated
VAR_030601 commonName VAR_030601
VAR_030601 disease not phenotype-associated
VAR_030602 commonName VAR_030602
VAR_030602 disease not phenotype-associated
VAR_030603 commonName VAR_030603
VAR_030603 disease not phenotype-associated
VAR_030604 commonName VAR_030604
VAR_030604 disease not phenotype-associated
VAR_030605 commonName VAR_030605
VAR_030605 disease not phenotype-associated
VAR_030606 commonName VAR_030606
VAR_030606 disease not phenotype-associated
VAR_030607 commonName VAR_030607
VAR_030607 disease not phenotype-associated
VAR_030608 commonName VAR_030608
VAR_030608 disease not phenotype-associated
VAR_030609 commonName VAR_030609
VAR_030609 disease not phenotype-associated
VAR_030610 commonName VAR_030610
VAR_030610 disease not phenotype-associated
VAR_030611 commonName VAR_030611
VAR_030611 disease not phenotype-associated
VAR_030612 commonName VAR_030612
VAR_030612 disease not phenotype-associated
VAR_030613 commonName VAR_030613
VAR_030613 disease not phenotype-associated
VAR_030614 commonName VAR_030614
VAR_030614 disease not phenotype-associated
VAR_030615 commonName VAR_030615
VAR_030615 disease not phenotype-associated
VAR_030616 commonName VAR_030616
VAR_030616 disease not phenotype-associated
VAR_030617 commonName VAR_030617
VAR_030617 disease not phenotype-associated
VAR_030618 commonName VAR_030618
VAR_030618 disease not phenotype-associated
VAR_030619 commonName VAR_030619
VAR_030619 disease not phenotype-associated
VAR_030620 commonName VAR_030620
VAR_030620 disease not phenotype-associated
VAR_030621 commonName VAR_030621
VAR_030621 disease not phenotype-associated
VAR_030622 commonName VAR_030622
VAR_030622 disease not phenotype-associated
VAR_030623 commonName VAR_030623
VAR_030623 disease not phenotype-associated
VAR_030624 commonName VAR_030624
VAR_030624 disease not phenotype-associated
VAR_030625 commonName VAR_030625
VAR_030625 disease not phenotype-associated
VAR_030626 commonName VAR_030626
VAR_030626 disease not phenotype-associated
VAR_030627 commonName VAR_030627
VAR_030627 disease not phenotype-associated
VAR_030628 commonName VAR_030628
VAR_030628 disease not phenotype-associated
VAR_030629 commonName VAR_030629
VAR_030629 disease not phenotype-associated
VAR_030631 commonName VAR_030631
VAR_030631 disease not phenotype-associated
VAR_030632 commonName VAR_030632
VAR_030632 disease not phenotype-associated
VAR_030633 commonName VAR_030633
VAR_030633 disease not phenotype-associated
VAR_030634 commonName VAR_030634
VAR_030634 disease not phenotype-associated
VAR_030635 commonName VAR_030635
VAR_030635 disease not phenotype-associated
VAR_030636 commonName VAR_030636
VAR_030636 disease not phenotype-associated
VAR_030637 commonName VAR_030637
VAR_030637 disease not phenotype-associated
VAR_030638 commonName VAR_030638
VAR_030638 disease not phenotype-associated
VAR_030639 commonName VAR_030639
VAR_030639 disease not phenotype-associated
VAR_030640 commonName VAR_030640
VAR_030640 disease not phenotype-associated
VAR_030641 commonName VAR_030641
VAR_030641 disease not phenotype-associated
VAR_030642 commonName VAR_030642
VAR_030642 disease not phenotype-associated
VAR_030643 commonName VAR_030643
VAR_030643 disease not phenotype-associated
VAR_030644 commonName VAR_030644
VAR_030644 disease not phenotype-associated
VAR_030645 commonName VAR_030645
VAR_030645 disease not phenotype-associated
VAR_030646 commonName VAR_030646
VAR_030646 disease not phenotype-associated
VAR_030647 commonName VAR_030647
VAR_030647 disease phenotype-associated
VAR_030647 phenoCommon Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]
VAR_030648 commonName VAR_030648
VAR_030648 disease not phenotype-associated
VAR_030649 commonName VAR_030649
VAR_030649 disease not phenotype-associated
VAR_030650 commonName VAR_030650
VAR_030650 disease not phenotype-associated
VAR_030651 commonName VAR_030651
VAR_030651 disease not phenotype-associated
VAR_030652 commonName VAR_030652
VAR_030652 disease not phenotype-associated
VAR_030653 commonName VAR_030653
VAR_030653 disease not phenotype-associated
VAR_030654 commonName VAR_030654
VAR_030654 disease not phenotype-associated
VAR_030655 commonName VAR_030655
VAR_030655 disease not phenotype-associated
VAR_030656 commonName VAR_030656
VAR_030656 disease not phenotype-associated
VAR_030657 commonName VAR_030657
VAR_030657 disease not phenotype-associated
VAR_030658 commonName VAR_030658
VAR_030658 disease phenotype-associated
VAR_030658 phenoCommon Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]
VAR_030659 commonName VAR_030659
VAR_030659 disease phenotype-associated
VAR_030659 phenoCommon Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654]
VAR_030660 commonName VAR_030660
VAR_030660 disease phenotype-associated
VAR_030660 phenoCommon Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]
VAR_030661 commonName VAR_030661
VAR_030661 disease not phenotype-associated
VAR_030662 commonName VAR_030662
VAR_030662 disease phenotype-associated
VAR_030662 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_030663 commonName VAR_030663
VAR_030663 disease phenotype-associated
VAR_030663 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_030664 commonName VAR_030664
VAR_030664 disease phenotype-associated
VAR_030664 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_030665 commonName VAR_030665
VAR_030665 disease phenotype-associated
VAR_030665 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_030666 commonName VAR_030666
VAR_030666 disease not phenotype-associated
VAR_030667 commonName VAR_030667
VAR_030667 disease not phenotype-associated
VAR_030668 commonName VAR_030668
VAR_030668 disease not phenotype-associated
VAR_030669 commonName VAR_030669
VAR_030669 disease not phenotype-associated
VAR_030671 commonName VAR_030671
VAR_030671 disease not phenotype-associated
VAR_030672 commonName VAR_030672
VAR_030672 disease not phenotype-associated
VAR_030673 commonName VAR_030673
VAR_030673 disease phenotype-associated
VAR_030673 phenoCommon Fuhrmann syndrome (FUHRS) [MIM:228930]
VAR_030674 commonName VAR_030674
VAR_030674 disease phenotype-associated
VAR_030674 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
VAR_030675 commonName VAR_030675
VAR_030675 disease phenotype-associated
VAR_030675 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_030676 commonName VAR_030676
VAR_030676 disease phenotype-associated
VAR_030676 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_030677 commonName VAR_030677
VAR_030677 disease phenotype-associated
VAR_030677 phenoCommon Pulmonary alveolar microlithiasis (PALM) [MIM:265100]
VAR_030678 commonName VAR_030678
VAR_030678 disease not phenotype-associated
VAR_030679 commonName VAR_030679
VAR_030679 disease not phenotype-associated
VAR_030680 commonName VAR_030680
VAR_030680 disease not phenotype-associated
VAR_030681 commonName VAR_030681
VAR_030681 disease not phenotype-associated
VAR_030682 commonName VAR_030682
VAR_030682 disease not phenotype-associated
VAR_030683 commonName VAR_030683
VAR_030683 disease not phenotype-associated
VAR_030684 commonName VAR_030684
VAR_030684 disease not phenotype-associated
VAR_030685 commonName VAR_030685
VAR_030685 disease not phenotype-associated
VAR_030686 commonName VAR_030686
VAR_030686 disease not phenotype-associated
VAR_030687 commonName VAR_030687
VAR_030687 disease not phenotype-associated
VAR_030688 commonName VAR_030688
VAR_030688 disease not phenotype-associated
VAR_030689 commonName VAR_030689
VAR_030689 disease not phenotype-associated
VAR_030690 commonName VAR_030690
VAR_030690 disease not phenotype-associated
VAR_030691 commonName VAR_030691
VAR_030691 disease not phenotype-associated
VAR_030692 commonName VAR_030692
VAR_030692 disease not phenotype-associated
VAR_030693 commonName VAR_030693
VAR_030693 disease not phenotype-associated
VAR_030694 commonName VAR_030694
VAR_030694 disease not phenotype-associated
VAR_030695 commonName VAR_030695
VAR_030695 disease not phenotype-associated
VAR_030696 commonName VAR_030696
VAR_030696 disease not phenotype-associated
VAR_030697 commonName VAR_030697
VAR_030697 disease not phenotype-associated
VAR_030698 commonName VAR_030698
VAR_030698 disease not phenotype-associated
VAR_030699 commonName VAR_030699
VAR_030699 disease not phenotype-associated
VAR_030700 commonName VAR_030700
VAR_030700 disease not phenotype-associated
VAR_030701 commonName VAR_030701
VAR_030701 disease not phenotype-associated
VAR_030702 commonName VAR_030702
VAR_030702 disease not phenotype-associated
VAR_030703 commonName VAR_030703
VAR_030703 disease not phenotype-associated
VAR_030704 commonName VAR_030704
VAR_030704 disease not phenotype-associated
VAR_030705 commonName VAR_030705
VAR_030705 disease phenotype-associated
VAR_030705 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030706 commonName VAR_030706
VAR_030706 disease phenotype-associated
VAR_030706 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030707 commonName VAR_030707
VAR_030707 disease phenotype-associated
VAR_030707 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030708 commonName VAR_030708
VAR_030708 disease phenotype-associated
VAR_030708 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030709 commonName VAR_030709
VAR_030709 disease phenotype-associated
VAR_030709 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030710 commonName VAR_030710
VAR_030710 disease phenotype-associated
VAR_030710 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030711 commonName VAR_030711
VAR_030711 disease phenotype-associated
VAR_030711 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030712 commonName VAR_030712
VAR_030712 disease phenotype-associated
VAR_030712 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
VAR_030713 commonName VAR_030713
VAR_030713 disease not phenotype-associated
VAR_030714 commonName VAR_030714
VAR_030714 disease not phenotype-associated
VAR_030715 commonName VAR_030715
VAR_030715 disease not phenotype-associated
VAR_030716 commonName VAR_030716
VAR_030716 disease not phenotype-associated
VAR_030717 commonName VAR_030717
VAR_030717 disease not phenotype-associated
VAR_030718 commonName VAR_030718
VAR_030718 disease not phenotype-associated
VAR_030719 commonName VAR_030719
VAR_030719 disease not phenotype-associated
VAR_030720 commonName VAR_030720
VAR_030720 disease not phenotype-associated
VAR_030721 commonName VAR_030721
VAR_030721 disease not phenotype-associated
VAR_030725 commonName VAR_030725
VAR_030725 disease not phenotype-associated
VAR_030727 commonName VAR_030727
VAR_030727 disease not phenotype-associated
VAR_030728 commonName VAR_030728
VAR_030728 disease not phenotype-associated
VAR_030729 commonName VAR_030729
VAR_030729 disease not phenotype-associated
VAR_030730 commonName VAR_030730
VAR_030730 disease not phenotype-associated
VAR_030734 commonName VAR_030734
VAR_030734 disease not phenotype-associated
VAR_030735 commonName VAR_030735
VAR_030735 disease not phenotype-associated
VAR_030736 commonName VAR_030736
VAR_030736 disease not phenotype-associated
VAR_030737 commonName VAR_030737
VAR_030737 disease not phenotype-associated
VAR_030738 commonName VAR_030738
VAR_030738 disease not phenotype-associated
VAR_030739 commonName VAR_030739
VAR_030739 disease not phenotype-associated
VAR_030740 commonName VAR_030740
VAR_030740 disease not phenotype-associated
VAR_030741 commonName VAR_030741
VAR_030741 disease not phenotype-associated
VAR_030743 commonName VAR_030743
VAR_030743 disease not phenotype-associated
VAR_030744 commonName VAR_030744
VAR_030744 disease not phenotype-associated
VAR_030745 commonName VAR_030745
VAR_030745 disease not phenotype-associated
VAR_030746 commonName VAR_030746
VAR_030746 disease not phenotype-associated
VAR_030747 commonName VAR_030747
VAR_030747 disease not phenotype-associated
VAR_030750 commonName VAR_030750
VAR_030750 disease not phenotype-associated
VAR_030751 comment One individual with tumoral calcinosis
VAR_030751 commonName VAR_030751
VAR_030752 commonName VAR_030752
VAR_030752 disease not phenotype-associated
VAR_030753 commonName VAR_030753
VAR_030753 disease phenotype-associated
VAR_030753 phenoCommon Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000]
VAR_030753 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
VAR_030754 commonName VAR_030754
VAR_030754 disease not phenotype-associated
VAR_030755 commonName VAR_030755
VAR_030755 disease phenotype-associated
VAR_030755 phenoCommon Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000]
VAR_030755 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
VAR_030756 commonName VAR_030756
VAR_030756 disease phenotype-associated
VAR_030756 phenoCommon Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]
VAR_030757 commonName VAR_030757
VAR_030757 disease phenotype-associated
VAR_030757 phenoCommon Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]
VAR_030758 commonName VAR_030758
VAR_030758 disease not phenotype-associated
VAR_030759 commonName VAR_030759
VAR_030759 disease not phenotype-associated
VAR_030761 commonName VAR_030761
VAR_030761 disease not phenotype-associated
VAR_030762 commonName VAR_030762
VAR_030762 disease not phenotype-associated
VAR_030763 commonName VAR_030763
VAR_030763 disease not phenotype-associated
VAR_030765 commonName VAR_030765
VAR_030765 disease not phenotype-associated
VAR_030766 commonName VAR_030766
VAR_030766 disease not phenotype-associated
VAR_030767 commonName VAR_030767
VAR_030767 disease not phenotype-associated
VAR_030768 commonName VAR_030768
VAR_030768 disease not phenotype-associated
VAR_030769 commonName VAR_030769
VAR_030769 disease not phenotype-associated
VAR_030770 commonName VAR_030770
VAR_030770 disease not phenotype-associated
VAR_030771 commonName VAR_030771
VAR_030771 disease not phenotype-associated
VAR_030772 commonName VAR_030772
VAR_030772 disease not phenotype-associated
VAR_030773 commonName VAR_030773
VAR_030773 disease not phenotype-associated
VAR_030774 commonName VAR_030774
VAR_030774 disease not phenotype-associated
VAR_030775 commonName VAR_030775
VAR_030775 disease not phenotype-associated
VAR_030776 commonName VAR_030776
VAR_030776 disease not phenotype-associated
VAR_030777 commonName VAR_030777
VAR_030777 disease not phenotype-associated
VAR_030781 commonName VAR_030781
VAR_030781 disease not phenotype-associated
VAR_030782 commonName VAR_030782
VAR_030782 disease not phenotype-associated
VAR_030783 commonName VAR_030783
VAR_030783 disease not phenotype-associated
VAR_030784 commonName VAR_030784
VAR_030784 disease not phenotype-associated
VAR_030785 commonName VAR_030785
VAR_030785 disease not phenotype-associated
VAR_030786 commonName VAR_030786
VAR_030786 disease not phenotype-associated
VAR_030787 commonName VAR_030787
VAR_030787 disease not phenotype-associated
VAR_030788 commonName VAR_030788
VAR_030788 disease not phenotype-associated
VAR_030789 commonName VAR_030789
VAR_030789 disease phenotype-associated
VAR_030789 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]
VAR_030794 commonName VAR_030794
VAR_030794 disease not phenotype-associated
VAR_030795 commonName VAR_030795
VAR_030795 disease not phenotype-associated
VAR_030796 commonName VAR_030796
VAR_030796 disease not phenotype-associated
VAR_030797 commonName VAR_030797
VAR_030797 disease not phenotype-associated
VAR_030798 commonName VAR_030798
VAR_030798 disease not phenotype-associated
VAR_030799 commonName VAR_030799
VAR_030799 disease not phenotype-associated
VAR_030800 commonName VAR_030800
VAR_030800 disease not phenotype-associated
VAR_030801 commonName VAR_030801
VAR_030801 disease not phenotype-associated
VAR_030802 commonName VAR_030802
VAR_030802 disease not phenotype-associated
VAR_030803 commonName VAR_030803
VAR_030803 disease not phenotype-associated
VAR_030804 commonName VAR_030804
VAR_030804 disease not phenotype-associated
VAR_030805 commonName VAR_030805
VAR_030805 disease not phenotype-associated
VAR_030806 commonName VAR_030806
VAR_030806 disease not phenotype-associated
VAR_030807 commonName VAR_030807
VAR_030807 disease not phenotype-associated
VAR_030808 commonName VAR_030808
VAR_030808 disease phenotype-associated
VAR_030808 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030809 commonName VAR_030809
VAR_030809 disease phenotype-associated
VAR_030809 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030810 commonName VAR_030810
VAR_030810 disease phenotype-associated
VAR_030810 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030811 commonName VAR_030811
VAR_030811 disease phenotype-associated
VAR_030811 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030812 commonName VAR_030812
VAR_030812 disease phenotype-associated
VAR_030812 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030813 commonName VAR_030813
VAR_030813 disease phenotype-associated
VAR_030813 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030814 commonName VAR_030814
VAR_030814 disease phenotype-associated
VAR_030814 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030815 commonName VAR_030815
VAR_030815 disease phenotype-associated
VAR_030815 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030816 commonName VAR_030816
VAR_030816 disease phenotype-associated
VAR_030816 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030817 commonName VAR_030817
VAR_030817 disease phenotype-associated
VAR_030817 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030818 commonName VAR_030818
VAR_030818 disease phenotype-associated
VAR_030818 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030819 commonName VAR_030819
VAR_030819 disease phenotype-associated
VAR_030819 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030820 commonName VAR_030820
VAR_030820 disease phenotype-associated
VAR_030820 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030821 commonName VAR_030821
VAR_030821 disease phenotype-associated
VAR_030821 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030822 commonName VAR_030822
VAR_030822 disease phenotype-associated
VAR_030822 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
VAR_030823 commonName VAR_030823
VAR_030823 disease phenotype-associated
VAR_030823 phenoCommon Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]
VAR_030824 commonName VAR_030824
VAR_030824 disease not phenotype-associated
VAR_030825 commonName VAR_030825
VAR_030825 disease not phenotype-associated
VAR_030826 commonName VAR_030826
VAR_030826 disease not phenotype-associated
VAR_030827 commonName VAR_030827
VAR_030827 disease not phenotype-associated
VAR_030828 commonName VAR_030828
VAR_030828 disease not phenotype-associated
VAR_030829 commonName VAR_030829
VAR_030829 disease not phenotype-associated
VAR_030830 commonName VAR_030830
VAR_030830 disease not phenotype-associated
VAR_030831 commonName VAR_030831
VAR_030831 disease not phenotype-associated
VAR_030832 commonName VAR_030832
VAR_030832 disease not phenotype-associated
VAR_030833 commonName VAR_030833
VAR_030833 disease not phenotype-associated
VAR_030834 commonName VAR_030834
VAR_030834 disease not phenotype-associated
VAR_030835 commonName VAR_030835
VAR_030835 disease not phenotype-associated
VAR_030836 commonName VAR_030836
VAR_030836 disease not phenotype-associated
VAR_030837 commonName VAR_030837
VAR_030837 disease not phenotype-associated
VAR_030838 commonName VAR_030838
VAR_030838 disease not phenotype-associated
VAR_030839 commonName VAR_030839
VAR_030839 disease not phenotype-associated
VAR_030840 commonName VAR_030840
VAR_030840 disease not phenotype-associated
VAR_030841 commonName VAR_030841
VAR_030841 disease not phenotype-associated
VAR_030842 commonName VAR_030842
VAR_030842 disease not phenotype-associated
VAR_030843 commonName VAR_030843
VAR_030843 disease not phenotype-associated
VAR_030844 commonName VAR_030844
VAR_030844 disease not phenotype-associated
VAR_030845 commonName VAR_030845
VAR_030845 disease not phenotype-associated
VAR_030846 commonName VAR_030846
VAR_030846 disease not phenotype-associated
VAR_030847 commonName VAR_030847
VAR_030847 disease not phenotype-associated
VAR_030848 commonName VAR_030848
VAR_030848 disease not phenotype-associated
VAR_030849 commonName VAR_030849
VAR_030849 disease not phenotype-associated
VAR_030850 commonName VAR_030850
VAR_030850 disease not phenotype-associated
VAR_030851 commonName VAR_030851
VAR_030851 disease not phenotype-associated
VAR_030852 commonName VAR_030852
VAR_030852 disease not phenotype-associated
VAR_030853 commonName VAR_030853
VAR_030853 disease not phenotype-associated
VAR_030854 commonName VAR_030854
VAR_030854 disease not phenotype-associated
VAR_030855 commonName VAR_030855
VAR_030855 disease not phenotype-associated
VAR_030856 commonName VAR_030856
VAR_030856 disease not phenotype-associated
VAR_030857 commonName VAR_030857
VAR_030857 disease not phenotype-associated
VAR_030858 commonName VAR_030858
VAR_030858 disease not phenotype-associated
VAR_030859 commonName VAR_030859
VAR_030859 disease not phenotype-associated
VAR_030860 commonName VAR_030860
VAR_030860 disease not phenotype-associated
VAR_030861 commonName VAR_030861
VAR_030861 disease not phenotype-associated
VAR_030862 commonName VAR_030862
VAR_030862 disease not phenotype-associated
VAR_030863 commonName VAR_030863
VAR_030863 disease not phenotype-associated
VAR_030864 commonName VAR_030864
VAR_030864 disease not phenotype-associated
VAR_030865 commonName VAR_030865
VAR_030865 disease not phenotype-associated
VAR_030866 commonName VAR_030866
VAR_030866 disease not phenotype-associated
VAR_030867 commonName VAR_030867
VAR_030867 disease not phenotype-associated
VAR_030868 commonName VAR_030868
VAR_030868 disease not phenotype-associated
VAR_030869 commonName VAR_030869
VAR_030869 disease not phenotype-associated
VAR_030870 commonName VAR_030870
VAR_030870 disease not phenotype-associated
VAR_030872 commonName VAR_030872
VAR_030872 disease not phenotype-associated
VAR_030873 commonName VAR_030873
VAR_030873 disease not phenotype-associated
VAR_030874 commonName VAR_030874
VAR_030874 disease not phenotype-associated
VAR_030875 commonName VAR_030875
VAR_030875 disease not phenotype-associated
VAR_030876 commonName VAR_030876
VAR_030876 disease not phenotype-associated
VAR_030877 commonName VAR_030877
VAR_030877 disease not phenotype-associated
VAR_030878 commonName VAR_030878
VAR_030878 disease not phenotype-associated
VAR_030880 commonName VAR_030880
VAR_030880 disease not phenotype-associated
VAR_030881 commonName VAR_030881
VAR_030881 disease not phenotype-associated
VAR_030882 commonName VAR_030882
VAR_030882 disease not phenotype-associated
VAR_030883 commonName VAR_030883
VAR_030883 disease not phenotype-associated
VAR_030884 commonName VAR_030884
VAR_030884 disease not phenotype-associated
VAR_030885 commonName VAR_030885
VAR_030885 disease not phenotype-associated
VAR_030886 commonName VAR_030886
VAR_030886 disease not phenotype-associated
VAR_030888 commonName VAR_030888
VAR_030888 disease not phenotype-associated
VAR_030889 commonName VAR_030889
VAR_030889 disease not phenotype-associated
VAR_030890 commonName VAR_030890
VAR_030890 disease not phenotype-associated
VAR_030891 commonName VAR_030891
VAR_030891 disease not phenotype-associated
VAR_030892 commonName VAR_030892
VAR_030892 disease not phenotype-associated
VAR_030893 commonName VAR_030893
VAR_030893 disease not phenotype-associated
VAR_030894 commonName VAR_030894
VAR_030894 disease not phenotype-associated
VAR_030895 commonName VAR_030895
VAR_030895 disease not phenotype-associated
VAR_030896 commonName VAR_030896
VAR_030896 disease not phenotype-associated
VAR_030897 commonName VAR_030897
VAR_030897 disease not phenotype-associated
VAR_030898 commonName VAR_030898
VAR_030898 disease not phenotype-associated
VAR_030899 commonName VAR_030899
VAR_030899 disease not phenotype-associated
VAR_030900 commonName VAR_030900
VAR_030900 disease not phenotype-associated
VAR_030901 commonName VAR_030901
VAR_030901 disease not phenotype-associated
VAR_030902 commonName VAR_030902
VAR_030902 disease not phenotype-associated
VAR_030903 commonName VAR_030903
VAR_030903 disease not phenotype-associated
VAR_030904 commonName VAR_030904
VAR_030904 disease not phenotype-associated
VAR_030905 commonName VAR_030905
VAR_030905 disease not phenotype-associated
VAR_030906 commonName VAR_030906
VAR_030906 disease not phenotype-associated
VAR_030907 commonName VAR_030907
VAR_030907 disease not phenotype-associated
VAR_030908 commonName VAR_030908
VAR_030908 disease not phenotype-associated
VAR_030909 commonName VAR_030909
VAR_030909 disease not phenotype-associated
VAR_030910 commonName VAR_030910
VAR_030910 disease not phenotype-associated
VAR_030911 commonName VAR_030911
VAR_030911 disease not phenotype-associated
VAR_030912 commonName VAR_030912
VAR_030912 disease not phenotype-associated
VAR_030913 commonName VAR_030913
VAR_030913 disease not phenotype-associated
VAR_030914 commonName VAR_030914
VAR_030914 disease not phenotype-associated
VAR_030915 commonName VAR_030915
VAR_030915 disease not phenotype-associated
VAR_030916 commonName VAR_030916
VAR_030916 disease not phenotype-associated
VAR_030917 commonName VAR_030917
VAR_030917 disease not phenotype-associated
VAR_030918 commonName VAR_030918
VAR_030918 disease not phenotype-associated
VAR_030919 commonName VAR_030919
VAR_030919 disease not phenotype-associated
VAR_030920 commonName VAR_030920
VAR_030920 disease not phenotype-associated
VAR_030923 commonName VAR_030923
VAR_030923 disease not phenotype-associated
VAR_030924 commonName VAR_030924
VAR_030924 disease not phenotype-associated
VAR_030925 commonName VAR_030925
VAR_030925 disease not phenotype-associated
VAR_030926 commonName VAR_030926
VAR_030926 disease not phenotype-associated
VAR_030927 commonName VAR_030927
VAR_030927 disease not phenotype-associated
VAR_030928 commonName VAR_030928
VAR_030928 disease not phenotype-associated
VAR_030929 commonName VAR_030929
VAR_030929 disease not phenotype-associated
VAR_030930 commonName VAR_030930
VAR_030930 disease not phenotype-associated
VAR_030931 commonName VAR_030931
VAR_030931 disease not phenotype-associated
VAR_030932 commonName VAR_030932
VAR_030932 disease not phenotype-associated
VAR_030933 commonName VAR_030933
VAR_030933 disease not phenotype-associated
VAR_030934 commonName VAR_030934
VAR_030934 disease not phenotype-associated
VAR_030935 commonName VAR_030935
VAR_030935 disease not phenotype-associated
VAR_030936 commonName VAR_030936
VAR_030936 disease not phenotype-associated
VAR_030937 commonName VAR_030937
VAR_030937 disease not phenotype-associated
VAR_030939 commonName VAR_030939
VAR_030939 disease not phenotype-associated
VAR_030940 commonName VAR_030940
VAR_030940 disease not phenotype-associated
VAR_030941 commonName VAR_030941
VAR_030941 disease not phenotype-associated
VAR_030942 commonName VAR_030942
VAR_030942 disease not phenotype-associated
VAR_030943 commonName VAR_030943
VAR_030943 disease not phenotype-associated
VAR_030944 commonName VAR_030944
VAR_030944 disease not phenotype-associated
VAR_030945 commonName VAR_030945
VAR_030945 disease phenotype-associated
VAR_030945 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_030946 commonName VAR_030946
VAR_030946 disease phenotype-associated
VAR_030946 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_030947 commonName VAR_030947
VAR_030947 disease phenotype-associated
VAR_030947 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_030948 commonName VAR_030948
VAR_030948 disease phenotype-associated
VAR_030948 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_030949 commonName VAR_030949
VAR_030949 disease phenotype-associated
VAR_030949 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_030950 commonName VAR_030950
VAR_030950 disease phenotype-associated
VAR_030950 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780]
VAR_030951 commonName VAR_030951
VAR_030951 disease not phenotype-associated
VAR_030953 commonName VAR_030953
VAR_030953 disease not phenotype-associated
VAR_030954 commonName VAR_030954
VAR_030954 disease phenotype-associated
VAR_030954 phenoCommon Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]
VAR_030955 commonName VAR_030955
VAR_030955 disease phenotype-associated
VAR_030955 phenoCommon Kallmann syndrome type 4 (KAL4) [MIM:610628]
VAR_030956 commonName VAR_030956
VAR_030956 disease phenotype-associated
VAR_030956 phenoCommon Kallmann syndrome type 4 (KAL4) [MIM:610628]
VAR_030957 commonName VAR_030957
VAR_030957 disease not phenotype-associated
VAR_030958 commonName VAR_030958
VAR_030958 disease phenotype-associated
VAR_030958 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030959 commonName VAR_030959
VAR_030959 disease phenotype-associated
VAR_030959 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030960 commonName VAR_030960
VAR_030960 disease phenotype-associated
VAR_030960 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030961 commonName VAR_030961
VAR_030961 disease phenotype-associated
VAR_030961 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030962 commonName VAR_030962
VAR_030962 disease phenotype-associated
VAR_030962 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030963 commonName VAR_030963
VAR_030963 disease not phenotype-associated
VAR_030964 commonName VAR_030964
VAR_030964 disease phenotype-associated
VAR_030964 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030965 commonName VAR_030965
VAR_030965 disease phenotype-associated
VAR_030965 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200]
VAR_030966 commonName VAR_030966
VAR_030966 disease not phenotype-associated
VAR_030967 commonName VAR_030967
VAR_030967 disease not phenotype-associated
VAR_030968 commonName VAR_030968
VAR_030968 disease phenotype-associated
VAR_030968 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_030969 commonName VAR_030969
VAR_030969 disease not phenotype-associated
VAR_030970 commonName VAR_030970
VAR_030970 disease phenotype-associated
VAR_030970 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030971 commonName VAR_030971
VAR_030971 disease phenotype-associated
VAR_030971 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030972 commonName VAR_030972
VAR_030972 disease phenotype-associated
VAR_030972 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030973 commonName VAR_030973
VAR_030973 disease phenotype-associated
VAR_030973 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030974 commonName VAR_030974
VAR_030974 disease phenotype-associated
VAR_030974 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030975 commonName VAR_030975
VAR_030975 disease not phenotype-associated
VAR_030976 commonName VAR_030976
VAR_030976 disease phenotype-associated
VAR_030976 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030977 commonName VAR_030977
VAR_030977 disease phenotype-associated
VAR_030977 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030978 commonName VAR_030978
VAR_030979 commonName VAR_030979
VAR_030979 disease phenotype-associated
VAR_030979 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030980 commonName VAR_030980
VAR_030980 disease phenotype-associated
VAR_030980 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030981 commonName VAR_030981
VAR_030981 disease phenotype-associated
VAR_030981 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030982 commonName VAR_030982
VAR_030982 disease phenotype-associated
VAR_030982 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030983 commonName VAR_030983
VAR_030983 disease phenotype-associated
VAR_030983 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030984 commonName VAR_030984
VAR_030984 disease phenotype-associated
VAR_030984 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030985 commonName VAR_030985
VAR_030985 disease phenotype-associated
VAR_030985 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030986 commonName VAR_030986
VAR_030986 disease phenotype-associated
VAR_030986 phenoCommon Trigonocephaly type 1 (TRIGNO1) [MIM:190440]
VAR_030987 commonName VAR_030987
VAR_030987 disease phenotype-associated
VAR_030987 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250]
VAR_030988 commonName VAR_030988
VAR_030988 disease phenotype-associated
VAR_030988 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030989 commonName VAR_030989
VAR_030989 disease phenotype-associated
VAR_030989 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030990 commonName VAR_030990
VAR_030990 disease phenotype-associated
VAR_030990 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030991 commonName VAR_030991
VAR_030991 disease phenotype-associated
VAR_030991 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030992 commonName VAR_030992
VAR_030993 commonName VAR_030993
VAR_030993 disease phenotype-associated
VAR_030993 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250]
VAR_030994 commonName VAR_030994
VAR_030994 disease phenotype-associated
VAR_030994 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250]
VAR_030995 commonName VAR_030995
VAR_030995 disease phenotype-associated
VAR_030995 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030996 commonName VAR_030996
VAR_030996 disease phenotype-associated
VAR_030996 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030997 commonName VAR_030997
VAR_030997 disease phenotype-associated
VAR_030997 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030998 commonName VAR_030998
VAR_030998 disease phenotype-associated
VAR_030998 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_030999 commonName VAR_030999
VAR_030999 disease phenotype-associated
VAR_030999 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031000 commonName VAR_031000
VAR_031000 disease phenotype-associated
VAR_031000 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031001 commonName VAR_031001
VAR_031001 disease phenotype-associated
VAR_031001 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031002 commonName VAR_031002
VAR_031002 disease phenotype-associated
VAR_031002 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031003 commonName VAR_031003
VAR_031003 disease phenotype-associated
VAR_031003 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031004 commonName VAR_031004
VAR_031004 disease phenotype-associated
VAR_031004 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031005 commonName VAR_031005
VAR_031005 disease phenotype-associated
VAR_031005 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_031006 commonName VAR_031006
VAR_031006 disease phenotype-associated
VAR_031006 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031007 commonName VAR_031007
VAR_031007 disease phenotype-associated
VAR_031007 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_031008 commonName VAR_031008
VAR_031008 disease phenotype-associated
VAR_031008 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031009 commonName VAR_031009
VAR_031009 disease not phenotype-associated
VAR_031010 commonName VAR_031010
VAR_031010 disease phenotype-associated
VAR_031010 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950]
VAR_031012 commonName VAR_031012
VAR_031012 disease phenotype-associated
VAR_031012 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031013 commonName VAR_031013
VAR_031013 disease phenotype-associated
VAR_031013 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031014 commonName VAR_031014
VAR_031014 disease phenotype-associated
VAR_031014 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031015 commonName VAR_031015
VAR_031015 disease phenotype-associated
VAR_031015 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031016 commonName VAR_031016
VAR_031016 disease phenotype-associated
VAR_031016 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031017 commonName VAR_031017
VAR_031017 disease phenotype-associated
VAR_031017 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031018 commonName VAR_031018
VAR_031018 disease phenotype-associated
VAR_031018 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_031019 commonName VAR_031019
VAR_031019 disease not phenotype-associated
VAR_031020 commonName VAR_031020
VAR_031020 disease not phenotype-associated
VAR_031021 commonName VAR_031021
VAR_031021 disease phenotype-associated
VAR_031021 phenoCommon Cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513]
VAR_031022 commonName VAR_031022
VAR_031022 disease not phenotype-associated
VAR_031024 commonName VAR_031024
VAR_031024 disease phenotype-associated
VAR_031024 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_031025 commonName VAR_031025
VAR_031025 disease phenotype-associated
VAR_031025 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_031027 commonName VAR_031027
VAR_031027 disease phenotype-associated
VAR_031027 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_031028 commonName VAR_031028
VAR_031028 disease phenotype-associated
VAR_031028 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
VAR_031029 commonName VAR_031029
VAR_031029 disease not phenotype-associated
VAR_031030 commonName VAR_031030
VAR_031030 disease phenotype-associated
VAR_031030 phenoCommon Craniolenticulosutural dysplasia (CLSD) [MIM:607812]
VAR_031032 commonName VAR_031032
VAR_031032 disease not phenotype-associated
VAR_031033 commonName VAR_031033
VAR_031033 disease not phenotype-associated
VAR_031034 commonName VAR_031034
VAR_031034 disease not phenotype-associated
VAR_031035 commonName VAR_031035
VAR_031035 disease not phenotype-associated
VAR_031036 commonName VAR_031036
VAR_031036 disease not phenotype-associated
VAR_031037 commonName VAR_031037
VAR_031037 disease not phenotype-associated
VAR_031038 commonName VAR_031038
VAR_031038 disease not phenotype-associated
VAR_031039 commonName VAR_031039
VAR_031039 disease not phenotype-associated
VAR_031040 commonName VAR_031040
VAR_031040 disease not phenotype-associated
VAR_031042 commonName VAR_031042
VAR_031042 disease not phenotype-associated
VAR_031043 commonName VAR_031043
VAR_031043 disease not phenotype-associated
VAR_031044 commonName VAR_031044
VAR_031044 disease not phenotype-associated
VAR_031045 commonName VAR_031045
VAR_031045 disease not phenotype-associated
VAR_031046 commonName VAR_031046
VAR_031046 disease not phenotype-associated
VAR_031047 commonName VAR_031047
VAR_031047 disease not phenotype-associated
VAR_031048 commonName VAR_031048
VAR_031048 disease not phenotype-associated
VAR_031049 commonName VAR_031049
VAR_031049 disease not phenotype-associated
VAR_031050 commonName VAR_031050
VAR_031050 disease not phenotype-associated
VAR_031051 commonName VAR_031051
VAR_031051 disease not phenotype-associated
VAR_031052 commonName VAR_031052
VAR_031052 disease not phenotype-associated
VAR_031053 commonName VAR_031053
VAR_031053 disease not phenotype-associated
VAR_031054 commonName VAR_031054
VAR_031054 disease not phenotype-associated
VAR_031055 commonName VAR_031055
VAR_031055 disease not phenotype-associated
VAR_031056 commonName VAR_031056
VAR_031056 disease not phenotype-associated
VAR_031058 commonName VAR_031058
VAR_031058 disease not phenotype-associated
VAR_031059 commonName VAR_031059
VAR_031059 disease not phenotype-associated
VAR_031060 commonName VAR_031060
VAR_031060 disease not phenotype-associated
VAR_031062 commonName VAR_031062
VAR_031062 disease not phenotype-associated
VAR_031063 commonName VAR_031063
VAR_031063 disease phenotype-associated
VAR_031063 phenoCommon Partial acquired lipodystrophy (APLD) [MIM:608709]
VAR_031064 commonName VAR_031064
VAR_031064 disease phenotype-associated
VAR_031064 phenoCommon Partial acquired lipodystrophy (APLD) [MIM:608709]
VAR_031065 commonName VAR_031065
VAR_031065 disease not phenotype-associated
VAR_031066 commonName VAR_031066
VAR_031066 disease not phenotype-associated
VAR_031067 commonName VAR_031067
VAR_031067 disease not phenotype-associated
VAR_031068 commonName VAR_031068
VAR_031068 disease not phenotype-associated
VAR_031069 commonName VAR_031069
VAR_031069 disease not phenotype-associated
VAR_031070 commonName VAR_031070
VAR_031070 disease not phenotype-associated
VAR_031071 commonName VAR_031071
VAR_031071 disease not phenotype-associated
VAR_031073 commonName VAR_031073
VAR_031073 disease not phenotype-associated
VAR_031074 commonName VAR_031074
VAR_031074 disease not phenotype-associated
VAR_031075 commonName VAR_031075
VAR_031075 disease not phenotype-associated
VAR_031076 commonName VAR_031076
VAR_031076 disease not phenotype-associated
VAR_031077 commonName VAR_031077
VAR_031077 disease not phenotype-associated
VAR_031078 commonName VAR_031078
VAR_031078 disease not phenotype-associated
VAR_031079 commonName VAR_031079
VAR_031079 disease phenotype-associated
VAR_031079 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_031080 commonName VAR_031080
VAR_031080 disease phenotype-associated
VAR_031080 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_031081 commonName VAR_031081
VAR_031081 disease phenotype-associated
VAR_031081 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]
VAR_031082 commonName VAR_031082
VAR_031082 disease phenotype-associated
VAR_031082 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_031083 commonName VAR_031083
VAR_031083 disease phenotype-associated
VAR_031083 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_031084 commonName VAR_031084
VAR_031084 disease phenotype-associated
VAR_031084 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_031085 commonName VAR_031085
VAR_031085 disease phenotype-associated
VAR_031085 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_031086 commonName VAR_031086
VAR_031086 disease phenotype-associated
VAR_031086 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
VAR_031087 commonName VAR_031087
VAR_031087 disease not phenotype-associated
VAR_031088 commonName VAR_031088
VAR_031088 disease not phenotype-associated
VAR_031089 commonName VAR_031089
VAR_031089 disease not phenotype-associated
VAR_031090 commonName VAR_031090
VAR_031090 disease not phenotype-associated
VAR_031091 commonName VAR_031091
VAR_031091 disease not phenotype-associated
VAR_031092 commonName VAR_031092
VAR_031092 disease not phenotype-associated
VAR_031093 commonName VAR_031093
VAR_031093 disease not phenotype-associated
VAR_031094 commonName VAR_031094
VAR_031094 disease not phenotype-associated
VAR_031095 commonName VAR_031095
VAR_031095 disease not phenotype-associated
VAR_031096 commonName VAR_031096
VAR_031096 disease not phenotype-associated
VAR_031097 commonName VAR_031097
VAR_031097 disease not phenotype-associated
VAR_031098 commonName VAR_031098
VAR_031098 disease not phenotype-associated
VAR_031099 commonName VAR_031099
VAR_031099 disease not phenotype-associated
VAR_031102 commonName VAR_031102
VAR_031102 disease not phenotype-associated
VAR_031103 commonName VAR_031103
VAR_031103 disease not phenotype-associated
VAR_031104 commonName VAR_031104
VAR_031104 disease not phenotype-associated
VAR_031108 commonName VAR_031108
VAR_031108 disease not phenotype-associated
VAR_031109 commonName VAR_031109
VAR_031109 disease not phenotype-associated
VAR_031110 commonName VAR_031110
VAR_031110 disease not phenotype-associated
VAR_031113 commonName VAR_031113
VAR_031113 disease not phenotype-associated
VAR_031114 commonName VAR_031114
VAR_031114 disease not phenotype-associated
VAR_031117 commonName VAR_031117
VAR_031117 disease not phenotype-associated
VAR_031118 commonName VAR_031118
VAR_031118 disease not phenotype-associated
VAR_031119 commonName VAR_031119
VAR_031119 disease not phenotype-associated
VAR_031120 commonName VAR_031120
VAR_031120 disease not phenotype-associated
VAR_031121 commonName VAR_031121
VAR_031121 disease not phenotype-associated
VAR_031122 commonName VAR_031122
VAR_031122 disease phenotype-associated
VAR_031122 phenoCommon Retinitis pigmentosa type 36 (RP36) [MIM:610599]
VAR_031123 commonName VAR_031123
VAR_031123 disease not phenotype-associated
VAR_031124 commonName VAR_031124
VAR_031124 disease phenotype-associated
VAR_031124 phenoCommon Retinitis pigmentosa type 36 (RP36) [MIM:610599]
VAR_031125 commonName VAR_031125
VAR_031125 disease not phenotype-associated
VAR_031126 commonName VAR_031126
VAR_031126 disease not phenotype-associated
VAR_031127 commonName VAR_031127
VAR_031127 disease not phenotype-associated
VAR_031129 commonName VAR_031129
VAR_031129 disease not phenotype-associated
VAR_031130 commonName VAR_031130
VAR_031130 disease not phenotype-associated
VAR_031131 commonName VAR_031131
VAR_031131 disease not phenotype-associated
VAR_031132 commonName VAR_031132
VAR_031132 disease not phenotype-associated
VAR_031133 commonName VAR_031133
VAR_031133 disease not phenotype-associated
VAR_031134 commonName VAR_031134
VAR_031134 disease not phenotype-associated
VAR_031135 commonName VAR_031135
VAR_031135 disease not phenotype-associated
VAR_031138 commonName VAR_031138
VAR_031138 disease not phenotype-associated
VAR_031139 commonName VAR_031139
VAR_031139 disease not phenotype-associated
VAR_031140 commonName VAR_031140
VAR_031140 disease not phenotype-associated
VAR_031141 commonName VAR_031141
VAR_031141 disease not phenotype-associated
VAR_031143 commonName VAR_031143
VAR_031143 disease not phenotype-associated
VAR_031144 commonName VAR_031144
VAR_031144 disease not phenotype-associated
VAR_031145 commonName VAR_031145
VAR_031145 disease not phenotype-associated
VAR_031146 commonName VAR_031146
VAR_031146 disease not phenotype-associated
VAR_031147 commonName VAR_031147
VAR_031147 disease not phenotype-associated
VAR_031148 commonName VAR_031148
VAR_031148 disease not phenotype-associated
VAR_031149 commonName VAR_031149
VAR_031149 disease not phenotype-associated
VAR_031150 commonName VAR_031150
VAR_031150 disease not phenotype-associated
VAR_031151 commonName VAR_031151
VAR_031151 disease not phenotype-associated
VAR_031153 commonName VAR_031153
VAR_031153 disease not phenotype-associated
VAR_031154 commonName VAR_031154
VAR_031154 disease not phenotype-associated
VAR_031155 commonName VAR_031155
VAR_031155 disease not phenotype-associated
VAR_031157 commonName VAR_031157
VAR_031157 disease not phenotype-associated
VAR_031158 commonName VAR_031158
VAR_031158 disease not phenotype-associated
VAR_031159 commonName VAR_031159
VAR_031159 disease not phenotype-associated
VAR_031160 commonName VAR_031160
VAR_031160 disease not phenotype-associated
VAR_031161 commonName VAR_031161
VAR_031161 disease not phenotype-associated
VAR_031162 commonName VAR_031162
VAR_031162 disease not phenotype-associated
VAR_031163 commonName VAR_031163
VAR_031163 disease not phenotype-associated
VAR_031164 commonName VAR_031164
VAR_031164 disease not phenotype-associated
VAR_031165 commonName VAR_031165
VAR_031165 disease not phenotype-associated
VAR_031166 commonName VAR_031166
VAR_031166 disease not phenotype-associated
VAR_031167 commonName VAR_031167
VAR_031167 disease not phenotype-associated
VAR_031169 commonName VAR_031169
VAR_031169 disease not phenotype-associated
VAR_031170 commonName VAR_031170
VAR_031170 disease not phenotype-associated
VAR_031171 commonName VAR_031171
VAR_031171 disease not phenotype-associated
VAR_031172 commonName VAR_031172
VAR_031172 disease not phenotype-associated
VAR_031173 commonName VAR_031173
VAR_031173 disease not phenotype-associated
VAR_031174 commonName VAR_031174
VAR_031174 disease not phenotype-associated
VAR_031175 commonName VAR_031175
VAR_031175 disease not phenotype-associated
VAR_031176 commonName VAR_031176
VAR_031176 disease not phenotype-associated
VAR_031177 commonName VAR_031177
VAR_031177 disease not phenotype-associated
VAR_031178 commonName VAR_031178
VAR_031178 disease not phenotype-associated
VAR_031179 commonName VAR_031179
VAR_031179 disease not phenotype-associated
VAR_031180 commonName VAR_031180
VAR_031180 disease not phenotype-associated
VAR_031181 commonName VAR_031181
VAR_031181 disease not phenotype-associated
VAR_031182 commonName VAR_031182
VAR_031182 disease not phenotype-associated
VAR_031183 commonName VAR_031183
VAR_031183 disease not phenotype-associated
VAR_031185 commonName VAR_031185
VAR_031185 disease not phenotype-associated
VAR_031186 commonName VAR_031186
VAR_031186 disease not phenotype-associated
VAR_031187 commonName VAR_031187
VAR_031187 disease not phenotype-associated
VAR_031189 commonName VAR_031189
VAR_031189 disease not phenotype-associated
VAR_031191 commonName VAR_031191
VAR_031191 disease not phenotype-associated
VAR_031192 commonName VAR_031192
VAR_031192 disease not phenotype-associated
VAR_031193 commonName VAR_031193
VAR_031193 disease not phenotype-associated
VAR_031194 commonName VAR_031194
VAR_031194 disease not phenotype-associated
VAR_031195 commonName VAR_031195
VAR_031195 disease not phenotype-associated
VAR_031196 commonName VAR_031196
VAR_031196 disease not phenotype-associated
VAR_031197 commonName VAR_031197
VAR_031197 disease not phenotype-associated
VAR_031198 commonName VAR_031198
VAR_031198 disease not phenotype-associated
VAR_031199 commonName VAR_031199
VAR_031199 disease not phenotype-associated
VAR_031200 commonName VAR_031200
VAR_031200 disease not phenotype-associated
VAR_031201 commonName VAR_031201
VAR_031201 disease not phenotype-associated
VAR_031202 commonName VAR_031202
VAR_031202 disease not phenotype-associated
VAR_031203 commonName VAR_031203
VAR_031203 disease not phenotype-associated
VAR_031204 commonName VAR_031204
VAR_031204 disease not phenotype-associated
VAR_031205 commonName VAR_031205
VAR_031205 disease not phenotype-associated
VAR_031206 commonName VAR_031206
VAR_031206 disease not phenotype-associated
VAR_031207 commonName VAR_031207
VAR_031207 disease not phenotype-associated
VAR_031208 commonName VAR_031208
VAR_031208 disease not phenotype-associated
VAR_031209 commonName VAR_031209
VAR_031209 disease not phenotype-associated
VAR_031210 commonName VAR_031210
VAR_031210 disease not phenotype-associated
VAR_031212 commonName VAR_031212
VAR_031212 disease not phenotype-associated
VAR_031213 commonName VAR_031213
VAR_031213 disease not phenotype-associated
VAR_031214 commonName VAR_031214
VAR_031214 disease not phenotype-associated
VAR_031215 commonName VAR_031215
VAR_031215 disease not phenotype-associated
VAR_031216 commonName VAR_031216
VAR_031216 disease not phenotype-associated
VAR_031217 commonName VAR_031217
VAR_031217 disease not phenotype-associated
VAR_031218 commonName VAR_031218
VAR_031218 disease not phenotype-associated
VAR_031219 commonName VAR_031219
VAR_031219 disease not phenotype-associated
VAR_031220 commonName VAR_031220
VAR_031220 disease not phenotype-associated
VAR_031221 commonName VAR_031221
VAR_031221 disease not phenotype-associated
VAR_031222 commonName VAR_031222
VAR_031222 disease not phenotype-associated
VAR_031223 commonName VAR_031223
VAR_031223 disease not phenotype-associated
VAR_031224 commonName VAR_031224
VAR_031224 disease not phenotype-associated
VAR_031225 commonName VAR_031225
VAR_031225 disease not phenotype-associated
VAR_031226 commonName VAR_031226
VAR_031226 disease not phenotype-associated
VAR_031227 commonName VAR_031227
VAR_031227 disease not phenotype-associated
VAR_031228 commonName VAR_031228
VAR_031228 disease not phenotype-associated
VAR_031229 commonName VAR_031229
VAR_031229 disease not phenotype-associated
VAR_031230 commonName VAR_031230
VAR_031230 disease not phenotype-associated
VAR_031231 commonName VAR_031231
VAR_031231 disease not phenotype-associated
VAR_031232 commonName VAR_031232
VAR_031232 disease not phenotype-associated
VAR_031233 commonName VAR_031233
VAR_031233 disease not phenotype-associated
VAR_031234 commonName VAR_031234
VAR_031234 disease not phenotype-associated
VAR_031235 commonName VAR_031235
VAR_031235 disease not phenotype-associated
VAR_031236 commonName VAR_031236
VAR_031236 disease not phenotype-associated
VAR_031237 commonName VAR_031237
VAR_031237 disease not phenotype-associated
VAR_031238 commonName VAR_031238
VAR_031238 disease not phenotype-associated
VAR_031239 commonName VAR_031239
VAR_031239 disease phenotype-associated
VAR_031239 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
VAR_031240 commonName VAR_031240
VAR_031240 disease phenotype-associated
VAR_031240 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
VAR_031241 commonName VAR_031241
VAR_031241 disease phenotype-associated
VAR_031241 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
VAR_031242 commonName VAR_031242
VAR_031242 disease phenotype-associated
VAR_031242 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_031243 commonName VAR_031243
VAR_031243 disease phenotype-associated
VAR_031243 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_031244 commonName VAR_031244
VAR_031244 disease phenotype-associated
VAR_031244 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_031245 commonName VAR_031245
VAR_031245 disease phenotype-associated
VAR_031245 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850]
VAR_031246 commonName VAR_031246
VAR_031246 disease not phenotype-associated
VAR_031247 commonName VAR_031247
VAR_031247 disease not phenotype-associated
VAR_031248 commonName VAR_031248
VAR_031248 disease not phenotype-associated
VAR_031249 commonName VAR_031249
VAR_031249 disease not phenotype-associated
VAR_031250 commonName VAR_031250
VAR_031250 disease not phenotype-associated
VAR_031251 commonName VAR_031251
VAR_031251 disease not phenotype-associated
VAR_031252 commonName VAR_031252
VAR_031252 disease not phenotype-associated
VAR_031253 commonName VAR_031253
VAR_031253 disease not phenotype-associated
VAR_031254 commonName VAR_031254
VAR_031254 disease not phenotype-associated
VAR_031255 commonName VAR_031255
VAR_031255 disease not phenotype-associated
VAR_031256 commonName VAR_031256
VAR_031256 disease not phenotype-associated
VAR_031257 commonName VAR_031257
VAR_031257 disease not phenotype-associated
VAR_031258 commonName VAR_031258
VAR_031258 disease not phenotype-associated
VAR_031259 commonName VAR_031259
VAR_031259 disease not phenotype-associated
VAR_031260 commonName VAR_031260
VAR_031260 disease not phenotype-associated
VAR_031261 commonName VAR_031261
VAR_031261 disease not phenotype-associated
VAR_031262 commonName VAR_031262
VAR_031262 disease not phenotype-associated
VAR_031263 commonName VAR_031263
VAR_031263 disease not phenotype-associated
VAR_031264 commonName VAR_031264
VAR_031264 disease not phenotype-associated
VAR_031265 commonName VAR_031265
VAR_031265 disease not phenotype-associated
VAR_031266 commonName VAR_031266
VAR_031266 disease not phenotype-associated
VAR_031267 commonName VAR_031267
VAR_031267 disease not phenotype-associated
VAR_031280 commonName VAR_031280
VAR_031280 disease not phenotype-associated
VAR_031281 commonName VAR_031281
VAR_031281 disease not phenotype-associated
VAR_031282 commonName VAR_031282
VAR_031282 disease not phenotype-associated
VAR_031283 commonName VAR_031283
VAR_031283 disease not phenotype-associated
VAR_031284 commonName VAR_031284
VAR_031284 disease not phenotype-associated
VAR_031285 commonName VAR_031285
VAR_031285 disease not phenotype-associated
VAR_031286 commonName VAR_031286
VAR_031286 disease not phenotype-associated
VAR_031287 commonName VAR_031287
VAR_031287 disease not phenotype-associated
VAR_031288 commonName VAR_031288
VAR_031288 disease not phenotype-associated
VAR_031289 commonName VAR_031289
VAR_031289 disease not phenotype-associated
VAR_031290 commonName VAR_031290
VAR_031290 disease not phenotype-associated
VAR_031291 commonName VAR_031291
VAR_031291 disease not phenotype-associated
VAR_031292 commonName VAR_031292
VAR_031292 disease not phenotype-associated
VAR_031293 commonName VAR_031293
VAR_031293 disease not phenotype-associated
VAR_031294 commonName VAR_031294
VAR_031294 disease not phenotype-associated
VAR_031295 commonName VAR_031295
VAR_031295 disease not phenotype-associated
VAR_031296 commonName VAR_031296
VAR_031296 disease not phenotype-associated
VAR_031297 commonName VAR_031297
VAR_031297 disease not phenotype-associated
VAR_031298 commonName VAR_031298
VAR_031298 disease not phenotype-associated
VAR_031299 commonName VAR_031299
VAR_031299 disease not phenotype-associated
VAR_031300 commonName VAR_031300
VAR_031300 disease not phenotype-associated
VAR_031301 commonName VAR_031301
VAR_031301 disease not phenotype-associated
VAR_031302 commonName VAR_031302
VAR_031302 disease not phenotype-associated
VAR_031303 commonName VAR_031303
VAR_031303 disease not phenotype-associated
VAR_031304 commonName VAR_031304
VAR_031304 disease not phenotype-associated
VAR_031305 commonName VAR_031305
VAR_031305 disease phenotype-associated
VAR_031305 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_031306 commonName VAR_031306
VAR_031306 disease phenotype-associated
VAR_031306 phenoCommon Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]
VAR_031307 commonName VAR_031307
VAR_031307 disease phenotype-associated
VAR_031307 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_031308 commonName VAR_031308
VAR_031308 disease phenotype-associated
VAR_031308 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
VAR_031309 commonName VAR_031309
VAR_031309 disease phenotype-associated
VAR_031309 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
VAR_031310 commonName VAR_031310
VAR_031310 disease not phenotype-associated
VAR_031312 commonName VAR_031312
VAR_031312 disease phenotype-associated
VAR_031312 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620]
VAR_031313 commonName VAR_031313
VAR_031313 disease not phenotype-associated
VAR_031314 commonName VAR_031314
VAR_031314 disease not phenotype-associated
VAR_031315 commonName VAR_031315
VAR_031315 disease not phenotype-associated
VAR_031316 commonName VAR_031316
VAR_031316 disease not phenotype-associated
VAR_031317 commonName VAR_031317
VAR_031317 disease not phenotype-associated
VAR_031318 commonName VAR_031318
VAR_031318 disease not phenotype-associated
VAR_031319 commonName VAR_031319
VAR_031319 disease not phenotype-associated
VAR_031320 commonName VAR_031320
VAR_031320 disease not phenotype-associated
VAR_031321 commonName VAR_031321
VAR_031321 disease not phenotype-associated
VAR_031322 commonName VAR_031322
VAR_031322 disease not phenotype-associated
VAR_031323 commonName VAR_031323
VAR_031323 disease not phenotype-associated
VAR_031324 commonName VAR_031324
VAR_031324 disease not phenotype-associated
VAR_031325 commonName VAR_031325
VAR_031325 disease not phenotype-associated
VAR_031327 commonName VAR_031327
VAR_031327 disease phenotype-associated
VAR_031327 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_031328 commonName VAR_031328
VAR_031328 disease phenotype-associated
VAR_031328 phenoCommon Infantile Refsum disease (IRD) [MIM:266510]
VAR_031349 commonName VAR_031349
VAR_031349 disease phenotype-associated
VAR_031349 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031350 commonName VAR_031350
VAR_031350 disease phenotype-associated
VAR_031350 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031351 commonName VAR_031351
VAR_031351 disease phenotype-associated
VAR_031351 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031352 commonName VAR_031352
VAR_031352 disease phenotype-associated
VAR_031352 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031353 commonName VAR_031353
VAR_031353 disease phenotype-associated
VAR_031353 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031354 commonName VAR_031354
VAR_031354 disease phenotype-associated
VAR_031354 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_031355 commonName VAR_031355
VAR_031355 disease phenotype-associated
VAR_031355 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031356 commonName VAR_031356
VAR_031356 disease phenotype-associated
VAR_031356 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031357 commonName VAR_031357
VAR_031357 disease phenotype-associated
VAR_031357 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031358 commonName VAR_031358
VAR_031358 disease phenotype-associated
VAR_031358 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031359 commonName VAR_031359
VAR_031359 disease phenotype-associated
VAR_031359 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031360 commonName VAR_031360
VAR_031360 disease phenotype-associated
VAR_031360 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031361 commonName VAR_031361
VAR_031361 disease phenotype-associated
VAR_031361 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031362 commonName VAR_031362
VAR_031362 disease phenotype-associated
VAR_031362 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031363 commonName VAR_031363
VAR_031363 disease phenotype-associated
VAR_031363 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031364 commonName VAR_031364
VAR_031364 disease phenotype-associated
VAR_031364 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031365 commonName VAR_031365
VAR_031365 disease phenotype-associated
VAR_031365 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031366 commonName VAR_031366
VAR_031366 disease phenotype-associated
VAR_031366 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031367 commonName VAR_031367
VAR_031367 disease phenotype-associated
VAR_031367 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031368 commonName VAR_031368
VAR_031368 disease phenotype-associated
VAR_031368 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031369 commonName VAR_031369
VAR_031369 disease phenotype-associated
VAR_031369 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031370 commonName VAR_031370
VAR_031370 disease phenotype-associated
VAR_031370 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031371 commonName VAR_031371
VAR_031371 disease phenotype-associated
VAR_031371 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031372 commonName VAR_031372
VAR_031372 disease phenotype-associated
VAR_031372 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031373 commonName VAR_031373
VAR_031373 disease phenotype-associated
VAR_031373 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031374 commonName VAR_031374
VAR_031374 disease phenotype-associated
VAR_031374 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031375 commonName VAR_031375
VAR_031375 disease phenotype-associated
VAR_031375 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031376 commonName VAR_031376
VAR_031376 disease phenotype-associated
VAR_031376 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031377 commonName VAR_031377
VAR_031377 disease phenotype-associated
VAR_031377 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031378 commonName VAR_031378
VAR_031378 disease phenotype-associated
VAR_031378 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031379 commonName VAR_031379
VAR_031379 disease phenotype-associated
VAR_031379 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031380 commonName VAR_031380
VAR_031380 disease phenotype-associated
VAR_031380 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031381 commonName VAR_031381
VAR_031381 disease phenotype-associated
VAR_031381 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031382 commonName VAR_031382
VAR_031382 disease phenotype-associated
VAR_031382 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031383 commonName VAR_031383
VAR_031383 disease phenotype-associated
VAR_031383 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031384 commonName VAR_031384
VAR_031384 disease phenotype-associated
VAR_031384 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031385 commonName VAR_031385
VAR_031385 disease phenotype-associated
VAR_031385 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031386 commonName VAR_031386
VAR_031386 disease phenotype-associated
VAR_031386 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031387 commonName VAR_031387
VAR_031387 disease phenotype-associated
VAR_031387 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031388 commonName VAR_031388
VAR_031388 disease phenotype-associated
VAR_031388 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031389 commonName VAR_031389
VAR_031389 disease phenotype-associated
VAR_031389 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
VAR_031390 commonName VAR_031390
VAR_031390 disease not phenotype-associated
VAR_031391 commonName VAR_031391
VAR_031391 disease not phenotype-associated
VAR_031392 commonName VAR_031392
VAR_031392 disease not phenotype-associated
VAR_031393 commonName VAR_031393
VAR_031393 disease not phenotype-associated
VAR_031394 commonName VAR_031394
VAR_031394 disease phenotype-associated
VAR_031394 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_031395 commonName VAR_031395
VAR_031395 disease phenotype-associated
VAR_031395 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_031397 commonName VAR_031397
VAR_031397 disease phenotype-associated
VAR_031397 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_031398 commonName VAR_031398
VAR_031398 disease phenotype-associated
VAR_031398 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100]
VAR_031399 commonName VAR_031399
VAR_031399 disease not phenotype-associated
VAR_031400 commonName VAR_031400
VAR_031400 disease not phenotype-associated
VAR_031401 commonName VAR_031401
VAR_031401 disease not phenotype-associated
VAR_031402 commonName VAR_031402
VAR_031402 disease not phenotype-associated
VAR_031403 commonName VAR_031403
VAR_031403 disease not phenotype-associated
VAR_031404 commonName VAR_031404
VAR_031404 disease not phenotype-associated
VAR_031405 commonName VAR_031405
VAR_031405 disease not phenotype-associated
VAR_031406 commonName VAR_031406
VAR_031406 disease not phenotype-associated
VAR_031407 commonName VAR_031407
VAR_031407 disease not phenotype-associated
VAR_031408 commonName VAR_031408
VAR_031408 disease not phenotype-associated
VAR_031409 commonName VAR_031409
VAR_031409 disease not phenotype-associated
VAR_031410 commonName VAR_031410
VAR_031410 disease not phenotype-associated
VAR_031411 commonName VAR_031411
VAR_031411 disease not phenotype-associated
VAR_031412 commonName VAR_031412
VAR_031412 disease not phenotype-associated
VAR_031414 commonName VAR_031414
VAR_031414 disease not phenotype-associated
VAR_031415 commonName VAR_031415
VAR_031415 disease not phenotype-associated
VAR_031417 commonName VAR_031417
VAR_031417 disease not phenotype-associated
VAR_031418 commonName VAR_031418
VAR_031418 disease not phenotype-associated
VAR_031419 commonName VAR_031419
VAR_031419 disease not phenotype-associated
VAR_031421 commonName VAR_031421
VAR_031421 disease not phenotype-associated
VAR_031422 commonName VAR_031422
VAR_031422 disease not phenotype-associated
VAR_031423 commonName VAR_031423
VAR_031423 disease not phenotype-associated
VAR_031424 commonName VAR_031424
VAR_031424 disease not phenotype-associated
VAR_031425 commonName VAR_031425
VAR_031425 disease not phenotype-associated
VAR_031426 commonName VAR_031426
VAR_031426 disease not phenotype-associated
VAR_031427 commonName VAR_031427
VAR_031427 disease not phenotype-associated
VAR_031428 commonName VAR_031428
VAR_031428 disease not phenotype-associated
VAR_031429 commonName VAR_031429
VAR_031429 disease not phenotype-associated
VAR_031430 commonName VAR_031430
VAR_031430 disease not phenotype-associated
VAR_031431 commonName VAR_031431
VAR_031431 disease not phenotype-associated
VAR_031432 commonName VAR_031432
VAR_031432 disease not phenotype-associated
VAR_031433 commonName VAR_031433
VAR_031433 disease not phenotype-associated
VAR_031434 commonName VAR_031434
VAR_031434 disease not phenotype-associated
VAR_031435 commonName VAR_031435
VAR_031435 disease not phenotype-associated
VAR_031436 commonName VAR_031436
VAR_031436 disease not phenotype-associated
VAR_031437 commonName VAR_031437
VAR_031437 disease not phenotype-associated
VAR_031439 commonName VAR_031439
VAR_031439 disease not phenotype-associated
VAR_031440 commonName VAR_031440
VAR_031440 disease not phenotype-associated
VAR_031441 commonName VAR_031441
VAR_031441 disease not phenotype-associated
VAR_031442 commonName VAR_031442
VAR_031442 disease not phenotype-associated
VAR_031445 commonName VAR_031445
VAR_031445 disease not phenotype-associated
VAR_031446 commonName VAR_031446
VAR_031446 disease not phenotype-associated
VAR_031447 commonName VAR_031447
VAR_031447 disease not phenotype-associated
VAR_031448 commonName VAR_031448
VAR_031448 disease not phenotype-associated
VAR_031449 commonName VAR_031449
VAR_031449 disease not phenotype-associated
VAR_031450 commonName VAR_031450
VAR_031450 disease not phenotype-associated
VAR_031451 commonName VAR_031451
VAR_031451 disease not phenotype-associated
VAR_031452 commonName VAR_031452
VAR_031452 disease not phenotype-associated
VAR_031453 commonName VAR_031453
VAR_031453 disease not phenotype-associated
VAR_031454 commonName VAR_031454
VAR_031454 disease not phenotype-associated
VAR_031455 commonName VAR_031455
VAR_031455 disease not phenotype-associated
VAR_031456 commonName VAR_031456
VAR_031456 disease not phenotype-associated
VAR_031457 commonName VAR_031457
VAR_031457 disease not phenotype-associated
VAR_031458 commonName VAR_031458
VAR_031458 disease not phenotype-associated
VAR_031459 commonName VAR_031459
VAR_031459 disease not phenotype-associated
VAR_031460 commonName VAR_031460
VAR_031460 disease not phenotype-associated
VAR_031461 commonName VAR_031461
VAR_031461 disease not phenotype-associated
VAR_031462 commonName VAR_031462
VAR_031462 disease not phenotype-associated
VAR_031463 commonName VAR_031463
VAR_031463 disease not phenotype-associated
VAR_031464 commonName VAR_031464
VAR_031464 disease not phenotype-associated
VAR_031465 commonName VAR_031465
VAR_031465 disease not phenotype-associated
VAR_031466 commonName VAR_031466
VAR_031466 disease not phenotype-associated
VAR_031467 commonName VAR_031467
VAR_031467 disease not phenotype-associated
VAR_031468 commonName VAR_031468
VAR_031468 disease not phenotype-associated
VAR_031469 commonName VAR_031469
VAR_031469 disease not phenotype-associated
VAR_031470 commonName VAR_031470
VAR_031470 disease not phenotype-associated
VAR_031471 commonName VAR_031471
VAR_031471 disease not phenotype-associated
VAR_031472 commonName VAR_031472
VAR_031472 disease not phenotype-associated
VAR_031473 commonName VAR_031473
VAR_031473 disease not phenotype-associated
VAR_031474 commonName VAR_031474
VAR_031474 disease not phenotype-associated
VAR_031477 commonName VAR_031477
VAR_031477 disease not phenotype-associated
VAR_031478 commonName VAR_031478
VAR_031478 disease not phenotype-associated
VAR_031479 commonName VAR_031479
VAR_031479 disease not phenotype-associated
VAR_031480 commonName VAR_031480
VAR_031480 disease not phenotype-associated
VAR_031481 commonName VAR_031481
VAR_031481 disease not phenotype-associated
VAR_031482 commonName VAR_031482
VAR_031482 disease not phenotype-associated
VAR_031483 commonName VAR_031483
VAR_031483 disease not phenotype-associated
VAR_031484 commonName VAR_031484
VAR_031484 disease not phenotype-associated
VAR_031485 commonName VAR_031485
VAR_031485 disease not phenotype-associated
VAR_031486 commonName VAR_031486
VAR_031486 disease not phenotype-associated
VAR_031487 commonName VAR_031487
VAR_031487 disease not phenotype-associated
VAR_031488 commonName VAR_031488
VAR_031488 disease not phenotype-associated
VAR_031489 commonName VAR_031489
VAR_031489 disease not phenotype-associated
VAR_031490 commonName VAR_031490
VAR_031490 disease not phenotype-associated
VAR_031491 commonName VAR_031491
VAR_031491 disease not phenotype-associated
VAR_031492 commonName VAR_031492
VAR_031492 disease not phenotype-associated
VAR_031493 commonName VAR_031493
VAR_031493 disease not phenotype-associated
VAR_031494 commonName VAR_031494
VAR_031494 disease not phenotype-associated
VAR_031495 commonName VAR_031495
VAR_031495 disease not phenotype-associated
VAR_031496 commonName VAR_031496
VAR_031496 disease not phenotype-associated
VAR_031497 commonName VAR_031497
VAR_031497 disease not phenotype-associated
VAR_031498 commonName VAR_031498
VAR_031498 disease not phenotype-associated
VAR_031499 commonName VAR_031499
VAR_031499 disease not phenotype-associated
VAR_031500 commonName VAR_031500
VAR_031500 disease phenotype-associated
VAR_031500 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031501 commonName VAR_031501
VAR_031501 disease phenotype-associated
VAR_031501 phenoCommon Hereditary angioedema type 3 (HAE3) [MIM:610618]
VAR_031502 commonName VAR_031502
VAR_031502 disease phenotype-associated
VAR_031502 phenoCommon Hereditary angioedema type 3 (HAE3) [MIM:610618]
VAR_031503 commonName VAR_031503
VAR_031503 disease phenotype-associated
VAR_031503 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031504 commonName VAR_031504
VAR_031504 disease phenotype-associated
VAR_031504 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031505 commonName VAR_031505
VAR_031505 disease phenotype-associated
VAR_031505 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031506 commonName VAR_031506
VAR_031506 disease phenotype-associated
VAR_031506 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031507 commonName VAR_031507
VAR_031507 disease phenotype-associated
VAR_031507 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031508 commonName VAR_031508
VAR_031508 disease phenotype-associated
VAR_031508 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031509 commonName VAR_031509
VAR_031509 disease phenotype-associated
VAR_031509 phenoCommon Factor XII deficiency (FA12D) [MIM:234000]
VAR_031510 commonName VAR_031510
VAR_031510 disease not phenotype-associated
VAR_031511 commonName VAR_031511
VAR_031511 disease not phenotype-associated
VAR_031512 commonName VAR_031512
VAR_031512 disease not phenotype-associated
VAR_031513 commonName VAR_031513
VAR_031514 commonName VAR_031514
VAR_031514 disease not phenotype-associated
VAR_031515 commonName VAR_031515
VAR_031516 commonName VAR_031516
VAR_031516 disease not phenotype-associated
VAR_031517 commonName VAR_031517
VAR_031517 disease not phenotype-associated
VAR_031518 commonName VAR_031518
VAR_031518 disease phenotype-associated
VAR_031518 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_031519 commonName VAR_031519
VAR_031519 disease phenotype-associated
VAR_031519 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
VAR_031520 commonName VAR_031520
VAR_031520 disease phenotype-associated
VAR_031520 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190]
VAR_031521 commonName VAR_031521
VAR_031521 disease phenotype-associated
VAR_031521 phenoCommon Leprechaunism (LEPRCH) [MIM:246200]
VAR_031522 commonName VAR_031522
VAR_031522 disease not phenotype-associated
VAR_031523 commonName VAR_031523
VAR_031523 disease phenotype-associated
VAR_031523 phenoCommon Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]
VAR_031524 commonName VAR_031524
VAR_031524 disease phenotype-associated
VAR_031524 phenoCommon Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]
VAR_031525 commonName VAR_031525
VAR_031525 disease not phenotype-associated
VAR_031526 commonName VAR_031526
VAR_031526 disease not phenotype-associated
VAR_031527 commonName VAR_031527
VAR_031527 disease not phenotype-associated
VAR_031528 commonName VAR_031528
VAR_031528 disease not phenotype-associated
VAR_031529 commonName VAR_031529
VAR_031529 disease phenotype-associated
VAR_031529 phenoCommon Normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455]
VAR_031530 commonName VAR_031530
VAR_031530 disease phenotype-associated
VAR_031530 phenoCommon Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]
VAR_031531 commonName VAR_031531
VAR_031532 commonName VAR_031532
VAR_031533 commonName VAR_031533
VAR_031533 disease not phenotype-associated
VAR_031534 commonName VAR_031534
VAR_031534 disease not phenotype-associated
VAR_031535 commonName VAR_031535
VAR_031535 disease phenotype-associated
VAR_031535 phenoCommon Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]
VAR_031536 commonName VAR_031536
VAR_031536 disease phenotype-associated
VAR_031536 phenoCommon Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]
VAR_031547 commonName VAR_031547
VAR_031547 disease not phenotype-associated
VAR_031552 commonName VAR_031552
VAR_031552 disease not phenotype-associated
VAR_031555 commonName VAR_031555
VAR_031555 disease not phenotype-associated
VAR_031556 commonName VAR_031556
VAR_031556 disease not phenotype-associated
VAR_031557 commonName VAR_031557
VAR_031557 disease not phenotype-associated
VAR_031558 commonName VAR_031558
VAR_031558 disease not phenotype-associated
VAR_031559 commonName VAR_031559
VAR_031559 disease not phenotype-associated
VAR_031560 commonName VAR_031560
VAR_031560 disease not phenotype-associated
VAR_031561 commonName VAR_031561
VAR_031561 disease not phenotype-associated
VAR_031562 commonName VAR_031562
VAR_031562 disease not phenotype-associated
VAR_031564 commonName VAR_031564
VAR_031564 disease not phenotype-associated
VAR_031565 commonName VAR_031565
VAR_031565 disease not phenotype-associated
VAR_031566 commonName VAR_031566
VAR_031566 disease not phenotype-associated
VAR_031567 commonName VAR_031567
VAR_031567 disease not phenotype-associated
VAR_031569 commonName VAR_031569
VAR_031569 disease not phenotype-associated
VAR_031570 commonName VAR_031570
VAR_031570 disease not phenotype-associated
VAR_031571 commonName VAR_031571
VAR_031571 disease not phenotype-associated
VAR_031572 commonName VAR_031572
VAR_031572 disease not phenotype-associated
VAR_031577 commonName VAR_031577
VAR_031577 disease not phenotype-associated
VAR_031578 commonName VAR_031578
VAR_031578 disease not phenotype-associated
VAR_031579 commonName VAR_031579
VAR_031579 disease not phenotype-associated
VAR_031580 commonName VAR_031580
VAR_031580 disease not phenotype-associated
VAR_031581 commonName VAR_031581
VAR_031581 disease not phenotype-associated
VAR_031586 commonName VAR_031586
VAR_031586 disease not phenotype-associated
VAR_031587 commonName VAR_031587
VAR_031587 disease not phenotype-associated
VAR_031588 commonName VAR_031588
VAR_031588 disease not phenotype-associated
VAR_031589 commonName VAR_031589
VAR_031589 disease not phenotype-associated
VAR_031590 commonName VAR_031590
VAR_031590 disease not phenotype-associated
VAR_031591 commonName VAR_031591
VAR_031591 disease not phenotype-associated
VAR_031592 commonName VAR_031592
VAR_031592 disease not phenotype-associated
VAR_031593 commonName VAR_031593
VAR_031593 disease not phenotype-associated
VAR_031594 commonName VAR_031594
VAR_031594 disease not phenotype-associated
VAR_031595 commonName VAR_031595
VAR_031595 disease not phenotype-associated
VAR_031596 commonName VAR_031596
VAR_031596 disease not phenotype-associated
VAR_031597 commonName VAR_031597
VAR_031597 disease not phenotype-associated
VAR_031598 commonName VAR_031598
VAR_031598 disease not phenotype-associated
VAR_031599 commonName VAR_031599
VAR_031599 disease not phenotype-associated
VAR_031600 commonName VAR_031600
VAR_031600 disease not phenotype-associated
VAR_031601 commonName VAR_031601
VAR_031601 disease not phenotype-associated
VAR_031602 commonName VAR_031602
VAR_031602 disease not phenotype-associated
VAR_031603 commonName VAR_031603
VAR_031603 disease not phenotype-associated
VAR_031604 commonName VAR_031604
VAR_031604 disease not phenotype-associated
VAR_031606 commonName VAR_031606
VAR_031606 disease not phenotype-associated
VAR_031607 commonName VAR_031607
VAR_031607 disease not phenotype-associated
VAR_031609 commonName VAR_031609
VAR_031609 disease not phenotype-associated
VAR_031610 commonName VAR_031610
VAR_031610 disease not phenotype-associated
VAR_031611 commonName VAR_031611
VAR_031611 disease not phenotype-associated
VAR_031613 commonName VAR_031613
VAR_031613 disease not phenotype-associated
VAR_031616 commonName VAR_031616
VAR_031616 disease not phenotype-associated
VAR_031617 commonName VAR_031617
VAR_031617 disease not phenotype-associated
VAR_031618 commonName VAR_031618
VAR_031618 disease not phenotype-associated
VAR_031619 commonName VAR_031619
VAR_031619 disease not phenotype-associated
VAR_031620 commonName VAR_031620
VAR_031620 disease not phenotype-associated
VAR_031621 commonName VAR_031621
VAR_031621 disease not phenotype-associated
VAR_031622 commonName VAR_031622
VAR_031622 disease not phenotype-associated
VAR_031623 commonName VAR_031623
VAR_031623 disease phenotype-associated
VAR_031623 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_031624 commonName VAR_031624
VAR_031624 disease phenotype-associated
VAR_031624 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_031625 commonName VAR_031625
VAR_031625 disease phenotype-associated
VAR_031625 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_031626 commonName VAR_031626
VAR_031626 disease phenotype-associated
VAR_031626 phenoCommon Benign familial hematuria (BFH) [MIM:141200]
VAR_031627 commonName VAR_031627
VAR_031627 disease not phenotype-associated
VAR_031628 commonName VAR_031628
VAR_031628 disease not phenotype-associated
VAR_031629 commonName VAR_031629
VAR_031629 disease not phenotype-associated
VAR_031631 commonName VAR_031631
VAR_031631 disease not phenotype-associated
VAR_031632 commonName VAR_031632
VAR_031632 disease not phenotype-associated
VAR_031635 commonName VAR_031635
VAR_031635 disease phenotype-associated
VAR_031635 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_031636 commonName VAR_031636
VAR_031636 disease phenotype-associated
VAR_031636 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_031637 commonName VAR_031637
VAR_031637 disease phenotype-associated
VAR_031637 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_031638 commonName VAR_031638
VAR_031638 disease phenotype-associated
VAR_031638 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_031639 commonName VAR_031639
VAR_031639 disease phenotype-associated
VAR_031639 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
VAR_031640 commonName VAR_031640
VAR_031640 disease phenotype-associated
VAR_031640 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_031641 commonName VAR_031641
VAR_031641 disease phenotype-associated
VAR_031641 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_031642 commonName VAR_031642
VAR_031642 disease phenotype-associated
VAR_031642 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_031643 commonName VAR_031643
VAR_031643 disease phenotype-associated
VAR_031643 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]
VAR_031644 commonName VAR_031644
VAR_031644 disease phenotype-associated
VAR_031644 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]
VAR_031647 commonName VAR_031647
VAR_031647 disease not phenotype-associated
VAR_031650 commonName VAR_031650
VAR_031650 disease not phenotype-associated
VAR_031651 commonName VAR_031651
VAR_031651 disease phenotype-associated
VAR_031651 phenoCommon Synpolydactyly 1 (SPD1) [MIM:186000]
VAR_031652 commonName VAR_031652
VAR_031652 disease phenotype-associated
VAR_031652 phenoCommon Syndactyly type 5 (SDTY5) [MIM:186300]
VAR_031653 commonName VAR_031653
VAR_031653 disease not phenotype-associated
VAR_031654 commonName VAR_031654
VAR_031654 disease not phenotype-associated
VAR_031655 commonName VAR_031655
VAR_031655 disease not phenotype-associated
VAR_031656 commonName VAR_031656
VAR_031656 disease not phenotype-associated
VAR_031657 commonName VAR_031657
VAR_031657 disease not phenotype-associated
VAR_031658 commonName VAR_031658
VAR_031658 disease not phenotype-associated
VAR_031659 commonName VAR_031659
VAR_031659 disease not phenotype-associated
VAR_031660 commonName VAR_031660
VAR_031660 disease not phenotype-associated
VAR_031661 commonName VAR_031661
VAR_031661 disease not phenotype-associated
VAR_031662 commonName VAR_031662
VAR_031662 disease not phenotype-associated
VAR_031663 commonName VAR_031663
VAR_031663 disease not phenotype-associated
VAR_031664 commonName VAR_031664
VAR_031664 disease not phenotype-associated
VAR_031665 commonName VAR_031665
VAR_031665 disease not phenotype-associated
VAR_031666 commonName VAR_031666
VAR_031666 disease not phenotype-associated
VAR_031667 commonName VAR_031667
VAR_031667 disease not phenotype-associated
VAR_031669 commonName VAR_031669
VAR_031669 disease not phenotype-associated
VAR_031670 commonName VAR_031670
VAR_031670 disease not phenotype-associated
VAR_031671 commonName VAR_031671
VAR_031671 disease not phenotype-associated
VAR_031672 commonName VAR_031672
VAR_031672 disease not phenotype-associated
VAR_031673 commonName VAR_031673
VAR_031673 disease not phenotype-associated
VAR_031674 commonName VAR_031674
VAR_031674 disease not phenotype-associated
VAR_031675 commonName VAR_031675
VAR_031675 disease not phenotype-associated
VAR_031676 commonName VAR_031676
VAR_031676 disease not phenotype-associated
VAR_031677 commonName VAR_031677
VAR_031677 disease not phenotype-associated
VAR_031679 commonName VAR_031679
VAR_031679 disease not phenotype-associated
VAR_031680 commonName VAR_031680
VAR_031680 disease not phenotype-associated
VAR_031681 commonName VAR_031681
VAR_031681 disease not phenotype-associated
VAR_031684 commonName VAR_031684
VAR_031684 disease not phenotype-associated
VAR_031686 commonName VAR_031686
VAR_031686 disease not phenotype-associated
VAR_031687 commonName VAR_031687
VAR_031687 disease not phenotype-associated
VAR_031688 commonName VAR_031688
VAR_031688 disease not phenotype-associated
VAR_031689 commonName VAR_031689
VAR_031689 disease not phenotype-associated
VAR_031690 commonName VAR_031690
VAR_031690 disease not phenotype-associated
VAR_031691 commonName VAR_031691
VAR_031691 disease not phenotype-associated
VAR_031692 commonName VAR_031692
VAR_031692 disease not phenotype-associated
VAR_031693 commonName VAR_031693
VAR_031693 disease not phenotype-associated
VAR_031694 commonName VAR_031694
VAR_031694 disease not phenotype-associated
VAR_031695 commonName VAR_031695
VAR_031695 disease not phenotype-associated
VAR_031696 commonName VAR_031696
VAR_031696 disease not phenotype-associated
VAR_031697 commonName VAR_031697
VAR_031697 disease not phenotype-associated
VAR_031698 commonName VAR_031698
VAR_031698 disease not phenotype-associated
VAR_031703 commonName VAR_031703
VAR_031703 disease not phenotype-associated
VAR_031704 commonName VAR_031704
VAR_031704 disease not phenotype-associated
VAR_031705 commonName VAR_031705
VAR_031705 disease not phenotype-associated
VAR_031706 commonName VAR_031706
VAR_031706 disease not phenotype-associated
VAR_031707 commonName VAR_031707
VAR_031707 disease not phenotype-associated
VAR_031708 commonName VAR_031708
VAR_031708 disease not phenotype-associated
VAR_031709 commonName VAR_031709
VAR_031709 disease not phenotype-associated
VAR_031710 commonName VAR_031710
VAR_031710 disease not phenotype-associated
VAR_031711 commonName VAR_031711
VAR_031711 disease not phenotype-associated
VAR_031712 commonName VAR_031712
VAR_031712 disease not phenotype-associated
VAR_031713 commonName VAR_031713
VAR_031713 disease not phenotype-associated
VAR_031714 commonName VAR_031714
VAR_031714 disease not phenotype-associated
VAR_031718 commonName VAR_031718
VAR_031718 disease phenotype-associated
VAR_031718 phenoCommon Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
VAR_031719 commonName VAR_031719
VAR_031719 disease phenotype-associated
VAR_031719 phenoCommon Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
VAR_031720 commonName VAR_031720
VAR_031720 disease not phenotype-associated
VAR_031721 commonName VAR_031721
VAR_031721 disease not phenotype-associated
VAR_031722 commonName VAR_031722
VAR_031722 disease not phenotype-associated
VAR_031723 commonName VAR_031723
VAR_031723 disease not phenotype-associated
VAR_031724 commonName VAR_031724
VAR_031724 disease not phenotype-associated
VAR_031725 commonName VAR_031725
VAR_031725 disease not phenotype-associated
VAR_031726 commonName VAR_031726
VAR_031726 disease not phenotype-associated
VAR_031727 commonName VAR_031727
VAR_031727 disease not phenotype-associated
VAR_031728 commonName VAR_031728
VAR_031728 disease not phenotype-associated
VAR_031731 commonName VAR_031731
VAR_031731 disease not phenotype-associated
VAR_031732 commonName VAR_031732
VAR_031732 disease not phenotype-associated
VAR_031733 commonName VAR_031733
VAR_031733 disease phenotype-associated
VAR_031733 phenoCommon Episodic ataxia type 6 (EA6) [MIM:612656]
VAR_031735 commonName VAR_031735
VAR_031735 disease phenotype-associated
VAR_031735 phenoCommon Familial aortic aneurysm thoracic type 4 (AAT4) [MIM:132900]
VAR_031736 commonName VAR_031736
VAR_031736 disease phenotype-associated
VAR_031736 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_031737 commonName VAR_031737
VAR_031737 disease phenotype-associated
VAR_031737 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_031738 commonName VAR_031738
VAR_031738 disease phenotype-associated
VAR_031738 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_031739 commonName VAR_031739
VAR_031739 disease phenotype-associated
VAR_031739 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_031740 commonName VAR_031740
VAR_031740 disease phenotype-associated
VAR_031740 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_031741 commonName VAR_031741
VAR_031741 disease not phenotype-associated
VAR_031742 commonName VAR_031742
VAR_031742 disease not phenotype-associated
VAR_031743 commonName VAR_031743
VAR_031743 disease not phenotype-associated
VAR_031744 commonName VAR_031744
VAR_031744 disease not phenotype-associated
VAR_031745 commonName VAR_031745
VAR_031745 disease not phenotype-associated
VAR_031746 commonName VAR_031746
VAR_031746 disease not phenotype-associated
VAR_031747 commonName VAR_031747
VAR_031747 disease not phenotype-associated
VAR_031748 commonName VAR_031748
VAR_031748 disease not phenotype-associated
VAR_031749 commonName VAR_031749
VAR_031749 disease not phenotype-associated
VAR_031750 commonName VAR_031750
VAR_031750 disease not phenotype-associated
VAR_031751 commonName VAR_031751
VAR_031751 disease not phenotype-associated
VAR_031752 commonName VAR_031752
VAR_031752 disease not phenotype-associated
VAR_031753 commonName VAR_031753
VAR_031753 disease not phenotype-associated
VAR_031754 commonName VAR_031754
VAR_031754 disease not phenotype-associated
VAR_031755 commonName VAR_031755
VAR_031755 disease not phenotype-associated
VAR_031756 commonName VAR_031756
VAR_031756 disease not phenotype-associated
VAR_031757 commonName VAR_031757
VAR_031757 disease not phenotype-associated
VAR_031758 commonName VAR_031758
VAR_031758 disease not phenotype-associated
VAR_031759 commonName VAR_031759
VAR_031759 disease not phenotype-associated
VAR_031760 commonName VAR_031760
VAR_031760 disease not phenotype-associated
VAR_031761 commonName VAR_031761
VAR_031761 disease not phenotype-associated
VAR_031762 commonName VAR_031762
VAR_031762 disease not phenotype-associated
VAR_031763 commonName VAR_031763
VAR_031763 disease not phenotype-associated
VAR_031764 commonName VAR_031764
VAR_031764 disease not phenotype-associated
VAR_031765 commonName VAR_031765
VAR_031765 disease not phenotype-associated
VAR_031766 commonName VAR_031766
VAR_031766 disease not phenotype-associated
VAR_031767 commonName VAR_031767
VAR_031767 disease not phenotype-associated
VAR_031768 commonName VAR_031768
VAR_031768 disease not phenotype-associated
VAR_031769 commonName VAR_031769
VAR_031769 disease not phenotype-associated
VAR_031770 commonName VAR_031770
VAR_031770 disease not phenotype-associated
VAR_031771 commonName VAR_031771
VAR_031771 disease not phenotype-associated
VAR_031772 commonName VAR_031772
VAR_031772 disease not phenotype-associated
VAR_031773 commonName VAR_031773
VAR_031773 disease not phenotype-associated
VAR_031774 commonName VAR_031774
VAR_031774 disease not phenotype-associated
VAR_031775 commonName VAR_031775
VAR_031775 disease not phenotype-associated
VAR_031776 commonName VAR_031776
VAR_031776 disease not phenotype-associated
VAR_031777 commonName VAR_031777
VAR_031777 disease not phenotype-associated
VAR_031778 commonName VAR_031778
VAR_031778 disease not phenotype-associated
VAR_031779 commonName VAR_031779
VAR_031779 disease not phenotype-associated
VAR_031780 commonName VAR_031780
VAR_031780 disease not phenotype-associated
VAR_031781 commonName VAR_031781
VAR_031781 disease not phenotype-associated
VAR_031782 commonName VAR_031782
VAR_031782 disease not phenotype-associated
VAR_031783 commonName VAR_031783
VAR_031783 disease not phenotype-associated
VAR_031784 commonName VAR_031784
VAR_031784 disease not phenotype-associated
VAR_031785 commonName VAR_031785
VAR_031785 disease not phenotype-associated
VAR_031787 commonName VAR_031787
VAR_031787 disease not phenotype-associated
VAR_031788 commonName VAR_031788
VAR_031788 disease not phenotype-associated
VAR_031790 commonName VAR_031790
VAR_031790 disease not phenotype-associated
VAR_031791 commonName VAR_031791
VAR_031791 disease not phenotype-associated
VAR_031792 commonName VAR_031792
VAR_031792 disease not phenotype-associated
VAR_031793 commonName VAR_031793
VAR_031793 disease not phenotype-associated
VAR_031794 commonName VAR_031794
VAR_031794 disease not phenotype-associated
VAR_031795 commonName VAR_031795
VAR_031795 disease not phenotype-associated
VAR_031796 commonName VAR_031796
VAR_031796 disease not phenotype-associated
VAR_031797 commonName VAR_031797
VAR_031797 disease not phenotype-associated
VAR_031798 commonName VAR_031798
VAR_031798 disease not phenotype-associated
VAR_031799 commonName VAR_031799
VAR_031799 disease not phenotype-associated
VAR_031800 commonName VAR_031800
VAR_031800 disease not phenotype-associated
VAR_031801 commonName VAR_031801
VAR_031801 disease not phenotype-associated
VAR_031802 commonName VAR_031802
VAR_031802 disease not phenotype-associated
VAR_031803 commonName VAR_031803
VAR_031803 disease not phenotype-associated
VAR_031805 commonName VAR_031805
VAR_031805 disease not phenotype-associated
VAR_031806 commonName VAR_031806
VAR_031806 disease not phenotype-associated
VAR_031807 commonName VAR_031807
VAR_031807 disease not phenotype-associated
VAR_031808 commonName VAR_031808
VAR_031808 disease not phenotype-associated
VAR_031809 commonName VAR_031809
VAR_031809 disease not phenotype-associated
VAR_031811 commonName VAR_031811
VAR_031811 disease not phenotype-associated
VAR_031812 commonName VAR_031812
VAR_031812 disease not phenotype-associated
VAR_031813 commonName VAR_031813
VAR_031813 disease not phenotype-associated
VAR_031814 commonName VAR_031814
VAR_031814 disease not phenotype-associated
VAR_031815 commonName VAR_031815
VAR_031815 disease not phenotype-associated
VAR_031816 commonName VAR_031816
VAR_031816 disease not phenotype-associated
VAR_031817 commonName VAR_031817
VAR_031817 disease not phenotype-associated
VAR_031818 commonName VAR_031818
VAR_031818 disease not phenotype-associated
VAR_031819 commonName VAR_031819
VAR_031819 disease not phenotype-associated
VAR_031820 commonName VAR_031820
VAR_031820 disease not phenotype-associated
VAR_031821 commonName VAR_031821
VAR_031821 disease not phenotype-associated
VAR_031822 commonName VAR_031822
VAR_031822 disease not phenotype-associated
VAR_031823 commonName VAR_031823
VAR_031823 disease phenotype-associated
VAR_031823 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
VAR_031824 commonName VAR_031824
VAR_031824 disease not phenotype-associated
VAR_031825 commonName VAR_031825
VAR_031825 disease not phenotype-associated
VAR_031826 commonName VAR_031826
VAR_031826 disease not phenotype-associated
VAR_031827 commonName VAR_031827
VAR_031827 disease not phenotype-associated
VAR_031828 commonName VAR_031828
VAR_031828 disease not phenotype-associated
VAR_031829 commonName VAR_031829
VAR_031829 disease not phenotype-associated
VAR_031830 commonName VAR_031830
VAR_031830 disease not phenotype-associated
VAR_031831 commonName VAR_031831
VAR_031831 disease not phenotype-associated
VAR_031832 commonName VAR_031832
VAR_031832 disease not phenotype-associated
VAR_031833 commonName VAR_031833
VAR_031833 disease not phenotype-associated
VAR_031834 commonName VAR_031834
VAR_031834 disease not phenotype-associated
VAR_031835 commonName VAR_031835
VAR_031835 disease not phenotype-associated
VAR_031841 commonName VAR_031841
VAR_031841 disease not phenotype-associated
VAR_031842 commonName VAR_031842
VAR_031842 disease not phenotype-associated
VAR_031843 commonName VAR_031843
VAR_031843 disease not phenotype-associated
VAR_031844 commonName VAR_031844
VAR_031844 disease not phenotype-associated
VAR_031845 commonName VAR_031845
VAR_031845 disease not phenotype-associated
VAR_031846 commonName VAR_031846
VAR_031846 disease not phenotype-associated
VAR_031847 commonName VAR_031847
VAR_031847 disease not phenotype-associated
VAR_031848 commonName VAR_031848
VAR_031848 disease phenotype-associated
VAR_031848 phenoCommon Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
VAR_031849 commonName VAR_031849
VAR_031849 disease not phenotype-associated
VAR_031850 commonName VAR_031850
VAR_031850 disease not phenotype-associated
VAR_031852 commonName VAR_031852
VAR_031852 disease not phenotype-associated
VAR_031853 commonName VAR_031853
VAR_031853 disease phenotype-associated
VAR_031853 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_031854 commonName VAR_031854
VAR_031854 disease not phenotype-associated
VAR_031855 commonName VAR_031855
VAR_031855 disease not phenotype-associated
VAR_031856 commonName VAR_031856
VAR_031856 disease not phenotype-associated
VAR_031857 comment An ovarian cancer cell line
VAR_031857 commonName VAR_031857
VAR_031858 comment A melanoma cell line
VAR_031858 commonName VAR_031858
VAR_031859 comment A melanoma cell line
VAR_031859 commonName VAR_031859
VAR_031860 commonName VAR_031860
VAR_031860 disease not phenotype-associated
VAR_031866 commonName VAR_031866
VAR_031866 disease not phenotype-associated
VAR_031867 commonName VAR_031867
VAR_031867 disease phenotype-associated
VAR_031867 phenoCommon Hydrolethalus syndrome type 1 (HLS1) [MIM:236680]
VAR_031869 commonName VAR_031869
VAR_031869 disease not phenotype-associated
VAR_031870 commonName VAR_031870
VAR_031870 disease phenotype-associated
VAR_031870 phenoCommon HIBCH deficiency (HIBCHD) [MIM:250620]
VAR_031871 commonName VAR_031871
VAR_031871 disease not phenotype-associated
VAR_031872 commonName VAR_031872
VAR_031873 commonName VAR_031873
VAR_031873 disease phenotype-associated
VAR_031873 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]
VAR_031874 commonName VAR_031874
VAR_031874 disease phenotype-associated
VAR_031874 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]
VAR_031875 commonName VAR_031875
VAR_031875 disease phenotype-associated
VAR_031875 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_031876 commonName VAR_031876
VAR_031876 disease phenotype-associated
VAR_031876 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_031877 commonName VAR_031877
VAR_031877 disease phenotype-associated
VAR_031877 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580]
VAR_031878 commonName VAR_031878
VAR_031878 disease phenotype-associated
VAR_031878 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]
VAR_031879 commonName VAR_031879
VAR_031879 disease phenotype-associated
VAR_031879 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]
VAR_031880 commonName VAR_031880
VAR_031880 disease phenotype-associated
VAR_031880 phenoCommon Progressive osseous heteroplasia (POH) [MIM:166350]
VAR_031882 commonName VAR_031882
VAR_031882 disease phenotype-associated
VAR_031882 phenoCommon Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251]
VAR_031883 commonName VAR_031883
VAR_031883 disease phenotype-associated
VAR_031883 phenoCommon Atrial septal defect type 3 (ASD3) [MIM:614089]
VAR_031885 commonName VAR_031885
VAR_031886 commonName VAR_031886
VAR_031886 disease phenotype-associated
VAR_031886 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_031887 commonName VAR_031887
VAR_031887 disease phenotype-associated
VAR_031887 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_031888 commonName VAR_031888
VAR_031889 commonName VAR_031889
VAR_031889 disease phenotype-associated
VAR_031889 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_031890 commonName VAR_031890
VAR_031891 commonName VAR_031891
VAR_031892 commonName VAR_031892
VAR_031892 disease phenotype-associated
VAR_031892 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900]
VAR_031899 commonName VAR_031899
VAR_031899 disease phenotype-associated
VAR_031899 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
VAR_031900 commonName VAR_031900
VAR_031900 disease not phenotype-associated
VAR_031901 commonName VAR_031901
VAR_031901 disease phenotype-associated
VAR_031901 phenoCommon Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]
VAR_031902 commonName VAR_031902
VAR_031902 disease phenotype-associated
VAR_031902 phenoCommon Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]
VAR_031903 commonName VAR_031903
VAR_031903 disease not phenotype-associated
VAR_031904 commonName VAR_031904
VAR_031904 disease not phenotype-associated
VAR_031905 commonName VAR_031905
VAR_031905 disease not phenotype-associated
VAR_031906 commonName VAR_031906
VAR_031906 disease not phenotype-associated
VAR_031907 commonName VAR_031907
VAR_031907 disease phenotype-associated
VAR_031907 phenoCommon Age-related macular degeneration type 6 (ARMD6) [MIM:613757]
VAR_031908 commonName VAR_031908
VAR_031908 disease phenotype-associated
VAR_031908 phenoCommon Cone-rod dystrophy type 11 (CORD11) [MIM:610381]
VAR_031910 commonName VAR_031910
VAR_031910 disease not phenotype-associated
VAR_031911 commonName VAR_031911
VAR_031911 disease phenotype-associated
VAR_031911 phenoCommon Tn syndrome (TNSYN) [MIM:300622]
VAR_031912 commonName VAR_031912
VAR_031912 disease not phenotype-associated
VAR_031913 commonName VAR_031913
VAR_031913 disease not phenotype-associated
VAR_031914 commonName VAR_031914
VAR_031914 disease not phenotype-associated
VAR_031915 commonName VAR_031915
VAR_031915 disease not phenotype-associated
VAR_031916 commonName VAR_031916
VAR_031916 disease not phenotype-associated
VAR_031917 commonName VAR_031917
VAR_031918 commonName VAR_031918
VAR_031918 disease not phenotype-associated
VAR_031919 commonName VAR_031919
VAR_031919 disease not phenotype-associated
VAR_031920 commonName VAR_031920
VAR_031920 disease not phenotype-associated
VAR_031921 commonName VAR_031921
VAR_031921 disease not phenotype-associated
VAR_031922 commonName VAR_031922
VAR_031922 disease not phenotype-associated
VAR_031923 commonName VAR_031923
VAR_031923 disease not phenotype-associated
VAR_031924 commonName VAR_031924
VAR_031924 disease not phenotype-associated
VAR_031925 commonName VAR_031925
VAR_031925 disease not phenotype-associated
VAR_031926 commonName VAR_031926
VAR_031926 disease not phenotype-associated
VAR_031927 commonName VAR_031927
VAR_031927 disease not phenotype-associated
VAR_031928 commonName VAR_031928
VAR_031928 disease not phenotype-associated
VAR_031929 commonName VAR_031929
VAR_031929 disease not phenotype-associated
VAR_031930 commonName VAR_031930
VAR_031930 disease not phenotype-associated
VAR_031931 commonName VAR_031931
VAR_031931 disease not phenotype-associated
VAR_031932 commonName VAR_031932
VAR_031932 disease not phenotype-associated
VAR_031933 commonName VAR_031933
VAR_031934 commonName VAR_031934
VAR_031935 commonName VAR_031935
VAR_031935 disease not phenotype-associated
VAR_031936 commonName VAR_031936
VAR_031936 disease not phenotype-associated
VAR_031937 commonName VAR_031937
VAR_031938 commonName VAR_031938
VAR_031938 disease not phenotype-associated
VAR_031939 commonName VAR_031939
VAR_031939 disease not phenotype-associated
VAR_031940 commonName VAR_031940
VAR_031941 commonName VAR_031941
VAR_031941 disease not phenotype-associated
VAR_031942 commonName VAR_031942
VAR_031942 disease not phenotype-associated
VAR_031943 commonName VAR_031943
VAR_031943 disease not phenotype-associated
VAR_031944 commonName VAR_031944
VAR_031945 commonName VAR_031945
VAR_031945 disease not phenotype-associated
VAR_031946 commonName VAR_031946
VAR_031946 disease not phenotype-associated
VAR_031947 commonName VAR_031947
VAR_031947 disease not phenotype-associated
VAR_031948 commonName VAR_031948
VAR_031948 disease not phenotype-associated
VAR_031949 commonName VAR_031949
VAR_031949 disease not phenotype-associated
VAR_031950 commonName VAR_031950
VAR_031950 disease not phenotype-associated
VAR_031951 commonName VAR_031951
VAR_031951 disease not phenotype-associated
VAR_031952 commonName VAR_031952
VAR_031952 disease phenotype-associated
VAR_031952 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280]
VAR_031953 commonName VAR_031953
VAR_031953 disease phenotype-associated
VAR_031953 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280]
VAR_031954 commonName VAR_031954
VAR_031954 disease phenotype-associated
VAR_031954 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280]
VAR_031955 commonName VAR_031955
VAR_031955 disease phenotype-associated
VAR_031955 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]
VAR_031956 commonName VAR_031956
VAR_031956 disease phenotype-associated
VAR_031956 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]
VAR_031957 commonName VAR_031957
VAR_031957 disease phenotype-associated
VAR_031957 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]
VAR_031958 commonName VAR_031958
VAR_031958 disease phenotype-associated
VAR_031958 phenoCommon Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640]
VAR_031959 commonName VAR_031959
VAR_031959 disease phenotype-associated
VAR_031959 phenoCommon X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]
VAR_031960 commonName VAR_031960
VAR_031960 disease phenotype-associated
VAR_031960 phenoCommon X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]
VAR_031961 commonName VAR_031961
VAR_031961 disease not phenotype-associated
VAR_031962 commonName VAR_031962
VAR_031962 disease phenotype-associated
VAR_031962 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_031963 commonName VAR_031963
VAR_031963 disease phenotype-associated
VAR_031963 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_031964 commonName VAR_031964
VAR_031964 disease phenotype-associated
VAR_031964 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_031965 commonName VAR_031965
VAR_031965 disease phenotype-associated
VAR_031965 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_031967 commonName VAR_031967
VAR_031967 disease phenotype-associated
VAR_031967 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]
VAR_031968 commonName VAR_031968
VAR_031968 disease phenotype-associated
VAR_031968 phenoCommon Pierson syndrome (PIERSS) [MIM:609049]
VAR_031969 commonName VAR_031969
VAR_031969 disease phenotype-associated
VAR_031969 phenoCommon Pierson syndrome (PIERSS) [MIM:609049]
VAR_031970 commonName VAR_031970
VAR_031970 disease phenotype-associated
VAR_031970 phenoCommon Pierson syndrome (PIERSS) [MIM:609049]
VAR_031971 commonName VAR_031971
VAR_031971 disease not phenotype-associated
VAR_031974 commonName VAR_031974
VAR_031974 disease not phenotype-associated
VAR_031975 commonName VAR_031975
VAR_031975 disease not phenotype-associated
VAR_031976 commonName VAR_031976
VAR_031976 disease not phenotype-associated
VAR_031977 commonName VAR_031977
VAR_031977 disease not phenotype-associated
VAR_031978 commonName VAR_031978
VAR_031978 disease phenotype-associated
VAR_031978 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_031980 commonName VAR_031980
VAR_031980 disease phenotype-associated
VAR_031980 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_031981 commonName VAR_031981
VAR_031981 disease phenotype-associated
VAR_031981 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_031982 commonName VAR_031982
VAR_031982 disease phenotype-associated
VAR_031982 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814]
VAR_031983 commonName VAR_031983
VAR_031983 disease phenotype-associated
VAR_031983 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_031984 commonName VAR_031984
VAR_031984 disease phenotype-associated
VAR_031984 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_031985 commonName VAR_031985
VAR_031985 disease phenotype-associated
VAR_031985 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_031986 commonName VAR_031986
VAR_031986 disease phenotype-associated
VAR_031986 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_031987 commonName VAR_031987
VAR_031987 disease phenotype-associated
VAR_031987 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_031987 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688]
VAR_031987 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_031988 commonName VAR_031988
VAR_031988 disease phenotype-associated
VAR_031988 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688]
VAR_031989 commonName VAR_031989
VAR_031989 disease phenotype-associated
VAR_031989 phenoCommon Nemaline myopathy type 7 (NEM7) [MIM:610687]
VAR_031990 commonName VAR_031990
VAR_031990 disease not phenotype-associated
VAR_031991 commonName VAR_031991
VAR_031991 disease not phenotype-associated
VAR_031992 commonName VAR_031992
VAR_031992 disease not phenotype-associated
VAR_031993 commonName VAR_031993
VAR_031993 disease not phenotype-associated
VAR_031994 commonName VAR_031994
VAR_031994 disease not phenotype-associated
VAR_031995 commonName VAR_031995
VAR_031995 disease not phenotype-associated
VAR_031996 commonName VAR_031996
VAR_031996 disease not phenotype-associated
VAR_031997 commonName VAR_031997
VAR_031997 disease not phenotype-associated
VAR_031998 commonName VAR_031998
VAR_031998 disease not phenotype-associated
VAR_031999 commonName VAR_031999
VAR_031999 disease not phenotype-associated
VAR_032008 commonName VAR_032008
VAR_032008 disease not phenotype-associated
VAR_032009 commonName VAR_032009
VAR_032009 disease not phenotype-associated
VAR_032010 commonName VAR_032010
VAR_032010 disease not phenotype-associated
VAR_032011 commonName VAR_032011
VAR_032011 disease phenotype-associated
VAR_032011 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_032012 commonName VAR_032012
VAR_032012 disease not phenotype-associated
VAR_032024 commonName VAR_032024
VAR_032024 disease not phenotype-associated
VAR_032025 commonName VAR_032025
VAR_032025 disease not phenotype-associated
VAR_032026 commonName VAR_032026
VAR_032026 disease not phenotype-associated
VAR_032027 commonName VAR_032027
VAR_032027 disease not phenotype-associated
VAR_032028 commonName VAR_032028
VAR_032028 disease not phenotype-associated
VAR_032030 commonName VAR_032030
VAR_032030 disease not phenotype-associated
VAR_032031 commonName VAR_032031
VAR_032031 disease not phenotype-associated
VAR_032032 commonName VAR_032032
VAR_032032 disease not phenotype-associated
VAR_032033 commonName VAR_032033
VAR_032033 disease not phenotype-associated
VAR_032034 commonName VAR_032034
VAR_032034 disease not phenotype-associated
VAR_032035 commonName VAR_032035
VAR_032035 disease not phenotype-associated
VAR_032036 commonName VAR_032036
VAR_032036 disease not phenotype-associated
VAR_032037 commonName VAR_032037
VAR_032037 disease not phenotype-associated
VAR_032038 commonName VAR_032038
VAR_032038 disease not phenotype-associated
VAR_032039 commonName VAR_032039
VAR_032039 disease not phenotype-associated
VAR_032040 commonName VAR_032040
VAR_032040 disease not phenotype-associated
VAR_032041 commonName VAR_032041
VAR_032041 disease not phenotype-associated
VAR_032042 commonName VAR_032042
VAR_032042 disease not phenotype-associated
VAR_032043 commonName VAR_032043
VAR_032043 disease not phenotype-associated
VAR_032044 commonName VAR_032044
VAR_032044 disease not phenotype-associated
VAR_032045 commonName VAR_032045
VAR_032045 disease not phenotype-associated
VAR_032046 commonName VAR_032046
VAR_032046 disease not phenotype-associated
VAR_032047 commonName VAR_032047
VAR_032047 disease not phenotype-associated
VAR_032048 commonName VAR_032048
VAR_032048 disease not phenotype-associated
VAR_032049 commonName VAR_032049
VAR_032049 disease not phenotype-associated
VAR_032050 commonName VAR_032050
VAR_032050 disease not phenotype-associated
VAR_032051 commonName VAR_032051
VAR_032051 disease not phenotype-associated
VAR_032052 commonName VAR_032052
VAR_032052 disease phenotype-associated
VAR_032052 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]
VAR_032054 commonName VAR_032054
VAR_032054 disease phenotype-associated
VAR_032054 phenoCommon Choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105]
VAR_032055 commonName VAR_032055
VAR_032055 disease phenotype-associated
VAR_032055 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]
VAR_032056 commonName VAR_032056
VAR_032056 disease phenotype-associated
VAR_032056 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]
VAR_032057 commonName VAR_032057
VAR_032057 disease phenotype-associated
VAR_032057 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]
VAR_032058 commonName VAR_032058
VAR_032058 disease not phenotype-associated
VAR_032059 commonName VAR_032059
VAR_032059 disease not phenotype-associated
VAR_032060 commonName VAR_032060
VAR_032060 disease not phenotype-associated
VAR_032061 commonName VAR_032061
VAR_032061 disease not phenotype-associated
VAR_032062 commonName VAR_032062
VAR_032062 disease not phenotype-associated
VAR_032063 commonName VAR_032063
VAR_032063 disease not phenotype-associated
VAR_032064 commonName VAR_032064
VAR_032064 disease not phenotype-associated
VAR_032066 commonName VAR_032066
VAR_032066 disease not phenotype-associated
VAR_032068 commonName VAR_032068
VAR_032068 disease not phenotype-associated
VAR_032069 commonName VAR_032069
VAR_032069 disease not phenotype-associated
VAR_032070 commonName VAR_032070
VAR_032070 disease not phenotype-associated
VAR_032071 commonName VAR_032071
VAR_032071 disease not phenotype-associated
VAR_032072 commonName VAR_032072
VAR_032072 disease not phenotype-associated
VAR_032073 commonName VAR_032073
VAR_032073 disease not phenotype-associated
VAR_032074 commonName VAR_032074
VAR_032074 disease not phenotype-associated
VAR_032075 commonName VAR_032075
VAR_032075 disease not phenotype-associated
VAR_032076 commonName VAR_032076
VAR_032076 disease not phenotype-associated
VAR_032077 commonName VAR_032077
VAR_032077 disease not phenotype-associated
VAR_032078 commonName VAR_032078
VAR_032078 disease not phenotype-associated
VAR_032079 commonName VAR_032079
VAR_032079 disease not phenotype-associated
VAR_032080 commonName VAR_032080
VAR_032080 disease not phenotype-associated
VAR_032081 commonName VAR_032081
VAR_032081 disease not phenotype-associated
VAR_032082 commonName VAR_032082
VAR_032082 disease not phenotype-associated
VAR_032083 commonName VAR_032083
VAR_032083 disease not phenotype-associated
VAR_032084 commonName VAR_032084
VAR_032084 disease not phenotype-associated
VAR_032085 commonName VAR_032085
VAR_032085 disease not phenotype-associated
VAR_032086 commonName VAR_032086
VAR_032086 disease phenotype-associated
VAR_032086 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032087 commonName VAR_032087
VAR_032087 disease phenotype-associated
VAR_032087 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_032088 commonName VAR_032088
VAR_032088 disease phenotype-associated
VAR_032088 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032089 commonName VAR_032089
VAR_032089 disease phenotype-associated
VAR_032089 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032090 commonName VAR_032090
VAR_032090 disease phenotype-associated
VAR_032090 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032090 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_032091 commonName VAR_032091
VAR_032091 disease phenotype-associated
VAR_032091 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032092 commonName VAR_032092
VAR_032092 disease phenotype-associated
VAR_032092 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000]
VAR_032093 commonName VAR_032093
VAR_032093 disease phenotype-associated
VAR_032093 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]
VAR_032094 commonName VAR_032094
VAR_032094 disease not phenotype-associated
VAR_032095 commonName VAR_032095
VAR_032095 disease not phenotype-associated
VAR_032096 commonName VAR_032096
VAR_032096 disease not phenotype-associated
VAR_032097 commonName VAR_032097
VAR_032097 disease not phenotype-associated
VAR_032098 commonName VAR_032098
VAR_032098 disease not phenotype-associated
VAR_032099 commonName VAR_032099
VAR_032099 disease not phenotype-associated
VAR_032100 commonName VAR_032100
VAR_032100 disease not phenotype-associated
VAR_032102 comment A lung adenocarcinoma patient
VAR_032102 commonName VAR_032102
VAR_032103 commonName VAR_032103
VAR_032104 comment A lung adenocarcinoma patient
VAR_032104 commonName VAR_032104
VAR_032105 commonName VAR_032105
VAR_032106 commonName VAR_032106
VAR_032106 disease not phenotype-associated
VAR_032107 commonName VAR_032107
VAR_032108 comment A lung adenocarcinoma cell line
VAR_032108 commonName VAR_032108
VAR_032109 comment A lung adenocarcinoma patient
VAR_032109 commonName VAR_032109
VAR_032110 commonName VAR_032110
VAR_032110 disease not phenotype-associated
VAR_032111 commonName VAR_032111
VAR_032111 disease not phenotype-associated
VAR_032112 commonName VAR_032112
VAR_032112 disease not phenotype-associated
VAR_032113 commonName VAR_032113
VAR_032113 disease phenotype-associated
VAR_032113 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_032114 commonName VAR_032114
VAR_032114 disease not phenotype-associated
VAR_032118 commonName VAR_032118
VAR_032118 disease not phenotype-associated
VAR_032119 commonName VAR_032119
VAR_032119 disease not phenotype-associated
VAR_032120 commonName VAR_032120
VAR_032120 disease not phenotype-associated
VAR_032121 commonName VAR_032121
VAR_032121 disease not phenotype-associated
VAR_032122 commonName VAR_032122
VAR_032122 disease not phenotype-associated
VAR_032123 commonName VAR_032123
VAR_032123 disease not phenotype-associated
VAR_032124 commonName VAR_032124
VAR_032124 disease not phenotype-associated
VAR_032125 commonName VAR_032125
VAR_032125 disease not phenotype-associated
VAR_032127 commonName VAR_032127
VAR_032127 disease not phenotype-associated
VAR_032129 commonName VAR_032129
VAR_032129 disease not phenotype-associated
VAR_032130 commonName VAR_032130
VAR_032130 disease not phenotype-associated
VAR_032131 commonName VAR_032131
VAR_032131 disease not phenotype-associated
VAR_032132 commonName VAR_032132
VAR_032132 disease not phenotype-associated
VAR_032133 commonName VAR_032133
VAR_032133 disease not phenotype-associated
VAR_032134 commonName VAR_032134
VAR_032134 disease not phenotype-associated
VAR_032135 commonName VAR_032135
VAR_032135 disease not phenotype-associated
VAR_032136 commonName VAR_032136
VAR_032136 disease not phenotype-associated
VAR_032137 commonName VAR_032137
VAR_032137 disease not phenotype-associated
VAR_032138 commonName VAR_032138
VAR_032138 disease not phenotype-associated
VAR_032139 commonName VAR_032139
VAR_032139 disease not phenotype-associated
VAR_032141 commonName VAR_032141
VAR_032141 disease not phenotype-associated
VAR_032142 commonName VAR_032142
VAR_032142 disease not phenotype-associated
VAR_032143 commonName VAR_032143
VAR_032143 disease not phenotype-associated
VAR_032144 commonName VAR_032144
VAR_032144 disease not phenotype-associated
VAR_032145 commonName VAR_032145
VAR_032145 disease not phenotype-associated
VAR_032146 commonName VAR_032146
VAR_032146 disease not phenotype-associated
VAR_032147 commonName VAR_032147
VAR_032147 disease not phenotype-associated
VAR_032148 commonName VAR_032148
VAR_032148 disease not phenotype-associated
VAR_032149 commonName VAR_032149
VAR_032149 disease not phenotype-associated
VAR_032150 commonName VAR_032150
VAR_032150 disease not phenotype-associated
VAR_032151 commonName VAR_032151
VAR_032151 disease not phenotype-associated
VAR_032154 commonName VAR_032154
VAR_032154 disease not phenotype-associated
VAR_032155 commonName VAR_032155
VAR_032155 disease not phenotype-associated
VAR_032156 commonName VAR_032156
VAR_032156 disease not phenotype-associated
VAR_032157 commonName VAR_032157
VAR_032157 disease not phenotype-associated
VAR_032158 commonName VAR_032158
VAR_032158 disease not phenotype-associated
VAR_032159 commonName VAR_032159
VAR_032159 disease not phenotype-associated
VAR_032160 commonName VAR_032160
VAR_032160 disease not phenotype-associated
VAR_032161 commonName VAR_032161
VAR_032161 disease not phenotype-associated
VAR_032162 commonName VAR_032162
VAR_032162 disease not phenotype-associated
VAR_032163 commonName VAR_032163
VAR_032163 disease not phenotype-associated
VAR_032164 commonName VAR_032164
VAR_032164 disease not phenotype-associated
VAR_032165 commonName VAR_032165
VAR_032165 disease not phenotype-associated
VAR_032166 commonName VAR_032166
VAR_032166 disease not phenotype-associated
VAR_032167 commonName VAR_032167
VAR_032167 disease not phenotype-associated
VAR_032168 commonName VAR_032168
VAR_032168 disease not phenotype-associated
VAR_032169 commonName VAR_032169
VAR_032169 disease not phenotype-associated
VAR_032171 commonName VAR_032171
VAR_032171 disease not phenotype-associated
VAR_032172 commonName VAR_032172
VAR_032172 disease not phenotype-associated
VAR_032173 commonName VAR_032173
VAR_032173 disease not phenotype-associated
VAR_032174 commonName VAR_032174
VAR_032174 disease not phenotype-associated
VAR_032175 commonName VAR_032175
VAR_032175 disease not phenotype-associated
VAR_032176 commonName VAR_032176
VAR_032176 disease not phenotype-associated
VAR_032177 commonName VAR_032177
VAR_032177 disease not phenotype-associated
VAR_032178 commonName VAR_032178
VAR_032178 disease not phenotype-associated
VAR_032179 commonName VAR_032179
VAR_032179 disease not phenotype-associated
VAR_032180 commonName VAR_032180
VAR_032180 disease not phenotype-associated
VAR_032181 commonName VAR_032181
VAR_032181 disease not phenotype-associated
VAR_032182 commonName VAR_032182
VAR_032182 disease not phenotype-associated
VAR_032183 commonName VAR_032183
VAR_032183 disease not phenotype-associated
VAR_032184 commonName VAR_032184
VAR_032184 disease not phenotype-associated
VAR_032185 commonName VAR_032185
VAR_032185 disease not phenotype-associated
VAR_032186 commonName VAR_032186
VAR_032186 disease not phenotype-associated
VAR_032187 commonName VAR_032187
VAR_032187 disease not phenotype-associated
VAR_032188 commonName VAR_032188
VAR_032188 disease not phenotype-associated
VAR_032189 commonName VAR_032189
VAR_032189 disease not phenotype-associated
VAR_032190 commonName VAR_032190
VAR_032190 disease not phenotype-associated
VAR_032191 commonName VAR_032191
VAR_032191 disease not phenotype-associated
VAR_032192 commonName VAR_032192
VAR_032192 disease not phenotype-associated
VAR_032193 commonName VAR_032193
VAR_032193 disease not phenotype-associated
VAR_032194 commonName VAR_032194
VAR_032194 disease not phenotype-associated
VAR_032195 comment A melanoma patient
VAR_032195 commonName VAR_032195
VAR_032196 commonName VAR_032196
VAR_032196 disease not phenotype-associated
VAR_032197 commonName VAR_032197
VAR_032197 disease phenotype-associated
VAR_032197 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032198 commonName VAR_032198
VAR_032198 disease phenotype-associated
VAR_032198 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032199 commonName VAR_032199
VAR_032199 disease phenotype-associated
VAR_032199 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032200 commonName VAR_032200
VAR_032200 disease phenotype-associated
VAR_032200 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032201 commonName VAR_032201
VAR_032201 disease phenotype-associated
VAR_032201 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032202 commonName VAR_032202
VAR_032202 disease phenotype-associated
VAR_032202 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032203 commonName VAR_032203
VAR_032203 disease phenotype-associated
VAR_032203 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032204 commonName VAR_032204
VAR_032204 disease phenotype-associated
VAR_032204 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032205 commonName VAR_032205
VAR_032205 disease phenotype-associated
VAR_032205 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032206 commonName VAR_032206
VAR_032206 disease phenotype-associated
VAR_032206 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032207 commonName VAR_032207
VAR_032207 disease phenotype-associated
VAR_032207 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032208 commonName VAR_032208
VAR_032208 disease phenotype-associated
VAR_032208 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032209 commonName VAR_032209
VAR_032209 disease phenotype-associated
VAR_032209 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032210 commonName VAR_032210
VAR_032210 disease phenotype-associated
VAR_032210 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032211 commonName VAR_032211
VAR_032211 disease phenotype-associated
VAR_032211 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032212 commonName VAR_032212
VAR_032212 disease phenotype-associated
VAR_032212 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032213 commonName VAR_032213
VAR_032213 disease phenotype-associated
VAR_032213 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032214 commonName VAR_032214
VAR_032214 disease phenotype-associated
VAR_032214 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032218 commonName VAR_032218
VAR_032218 disease not phenotype-associated
VAR_032219 commonName VAR_032219
VAR_032219 disease not phenotype-associated
VAR_032220 commonName VAR_032220
VAR_032220 disease not phenotype-associated
VAR_032221 commonName VAR_032221
VAR_032221 disease not phenotype-associated
VAR_032222 commonName VAR_032222
VAR_032222 disease not phenotype-associated
VAR_032223 commonName VAR_032223
VAR_032223 disease not phenotype-associated
VAR_032225 commonName VAR_032225
VAR_032225 disease not phenotype-associated
VAR_032226 commonName VAR_032226
VAR_032226 disease not phenotype-associated
VAR_032227 commonName VAR_032227
VAR_032227 disease not phenotype-associated
VAR_032228 commonName VAR_032228
VAR_032228 disease phenotype-associated
VAR_032228 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032229 commonName VAR_032229
VAR_032229 disease phenotype-associated
VAR_032229 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_032229 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032230 commonName VAR_032230
VAR_032230 disease not phenotype-associated
VAR_032231 commonName VAR_032231
VAR_032231 disease not phenotype-associated
VAR_032232 commonName VAR_032232
VAR_032232 disease phenotype-associated
VAR_032232 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032233 commonName VAR_032233
VAR_032233 disease phenotype-associated
VAR_032233 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032234 commonName VAR_032234
VAR_032234 disease phenotype-associated
VAR_032234 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_032234 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032235 commonName VAR_032235
VAR_032235 disease not phenotype-associated
VAR_032236 commonName VAR_032236
VAR_032236 disease not phenotype-associated
VAR_032237 commonName VAR_032237
VAR_032237 disease not phenotype-associated
VAR_032238 commonName VAR_032238
VAR_032238 disease not phenotype-associated
VAR_032239 commonName VAR_032239
VAR_032239 disease phenotype-associated
VAR_032239 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]
VAR_032240 commonName VAR_032240
VAR_032240 disease not phenotype-associated
VAR_032241 commonName VAR_032241
VAR_032241 disease phenotype-associated
VAR_032241 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_032242 commonName VAR_032242
VAR_032242 disease phenotype-associated
VAR_032242 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_032243 commonName VAR_032243
VAR_032243 disease not phenotype-associated
VAR_032244 commonName VAR_032244
VAR_032244 disease not phenotype-associated
VAR_032245 commonName VAR_032245
VAR_032245 disease not phenotype-associated
VAR_032246 commonName VAR_032246
VAR_032246 disease not phenotype-associated
VAR_032247 commonName VAR_032247
VAR_032247 disease not phenotype-associated
VAR_032248 commonName VAR_032248
VAR_032248 disease not phenotype-associated
VAR_032249 commonName VAR_032249
VAR_032249 disease not phenotype-associated
VAR_032250 commonName VAR_032250
VAR_032250 disease not phenotype-associated
VAR_032251 commonName VAR_032251
VAR_032252 commonName VAR_032252
VAR_032252 disease not phenotype-associated
VAR_032253 commonName VAR_032253
VAR_032253 disease not phenotype-associated
VAR_032254 commonName VAR_032254
VAR_032254 disease not phenotype-associated
VAR_032255 commonName VAR_032255
VAR_032255 disease not phenotype-associated
VAR_032256 commonName VAR_032256
VAR_032256 disease not phenotype-associated
VAR_032259 commonName VAR_032259
VAR_032259 disease not phenotype-associated
VAR_032260 commonName VAR_032260
VAR_032260 disease not phenotype-associated
VAR_032261 commonName VAR_032261
VAR_032261 disease not phenotype-associated
VAR_032262 commonName VAR_032262
VAR_032262 disease not phenotype-associated
VAR_032263 commonName VAR_032263
VAR_032263 disease not phenotype-associated
VAR_032264 commonName VAR_032264
VAR_032264 disease not phenotype-associated
VAR_032265 commonName VAR_032265
VAR_032265 disease not phenotype-associated
VAR_032266 commonName VAR_032266
VAR_032266 disease not phenotype-associated
VAR_032268 commonName VAR_032268
VAR_032268 disease not phenotype-associated
VAR_032269 commonName VAR_032269
VAR_032269 disease not phenotype-associated
VAR_032270 commonName VAR_032270
VAR_032270 disease not phenotype-associated
VAR_032271 commonName VAR_032271
VAR_032271 disease not phenotype-associated
VAR_032272 commonName VAR_032272
VAR_032272 disease not phenotype-associated
VAR_032273 commonName VAR_032273
VAR_032273 disease phenotype-associated
VAR_032273 phenoCommon Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]
VAR_032274 commonName VAR_032274
VAR_032274 disease phenotype-associated
VAR_032274 phenoCommon Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]
VAR_032276 commonName VAR_032276
VAR_032276 disease phenotype-associated
VAR_032276 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
VAR_032277 commonName VAR_032277
VAR_032277 disease phenotype-associated
VAR_032277 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_032278 commonName VAR_032278
VAR_032278 disease not phenotype-associated
VAR_032279 commonName VAR_032279
VAR_032279 disease not phenotype-associated
VAR_032281 commonName VAR_032281
VAR_032281 disease not phenotype-associated
VAR_032282 commonName VAR_032282
VAR_032282 disease not phenotype-associated
VAR_032283 commonName VAR_032283
VAR_032283 disease not phenotype-associated
VAR_032285 commonName VAR_032285
VAR_032285 disease not phenotype-associated
VAR_032286 commonName VAR_032286
VAR_032286 disease not phenotype-associated
VAR_032287 commonName VAR_032287
VAR_032287 disease not phenotype-associated
VAR_032288 commonName VAR_032288
VAR_032288 disease not phenotype-associated
VAR_032289 commonName VAR_032289
VAR_032289 disease not phenotype-associated
VAR_032290 commonName VAR_032290
VAR_032290 disease phenotype-associated
VAR_032290 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_032291 commonName VAR_032291
VAR_032291 disease phenotype-associated
VAR_032291 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_032292 commonName VAR_032292
VAR_032292 disease phenotype-associated
VAR_032292 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_032293 commonName VAR_032293
VAR_032293 disease phenotype-associated
VAR_032293 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_032294 commonName VAR_032294
VAR_032294 disease not phenotype-associated
VAR_032295 commonName VAR_032295
VAR_032295 disease not phenotype-associated
VAR_032296 commonName VAR_032296
VAR_032296 disease not phenotype-associated
VAR_032297 commonName VAR_032297
VAR_032297 disease not phenotype-associated
VAR_032298 commonName VAR_032298
VAR_032298 disease not phenotype-associated
VAR_032299 commonName VAR_032299
VAR_032299 disease not phenotype-associated
VAR_032300 commonName VAR_032300
VAR_032300 disease not phenotype-associated
VAR_032303 commonName VAR_032303
VAR_032303 disease not phenotype-associated
VAR_032304 commonName VAR_032304
VAR_032304 disease not phenotype-associated
VAR_032305 commonName VAR_032305
VAR_032305 disease not phenotype-associated
VAR_032306 commonName VAR_032306
VAR_032306 disease not phenotype-associated
VAR_032307 commonName VAR_032307
VAR_032307 disease not phenotype-associated
VAR_032308 commonName VAR_032308
VAR_032308 disease not phenotype-associated
VAR_032309 commonName VAR_032309
VAR_032309 disease not phenotype-associated
VAR_032310 commonName VAR_032310
VAR_032310 disease not phenotype-associated
VAR_032311 commonName VAR_032311
VAR_032311 disease not phenotype-associated
VAR_032312 commonName VAR_032312
VAR_032312 disease not phenotype-associated
VAR_032313 commonName VAR_032313
VAR_032313 disease not phenotype-associated
VAR_032314 commonName VAR_032314
VAR_032314 disease not phenotype-associated
VAR_032316 commonName VAR_032316
VAR_032316 disease not phenotype-associated
VAR_032317 commonName VAR_032317
VAR_032317 disease not phenotype-associated
VAR_032318 commonName VAR_032318
VAR_032318 disease not phenotype-associated
VAR_032320 commonName VAR_032320
VAR_032320 disease not phenotype-associated
VAR_032321 commonName VAR_032321
VAR_032321 disease not phenotype-associated
VAR_032322 commonName VAR_032322
VAR_032322 disease not phenotype-associated
VAR_032323 commonName VAR_032323
VAR_032323 disease not phenotype-associated
VAR_032324 commonName VAR_032324
VAR_032324 disease not phenotype-associated
VAR_032325 commonName VAR_032325
VAR_032325 disease not phenotype-associated
VAR_032326 commonName VAR_032326
VAR_032326 disease not phenotype-associated
VAR_032327 commonName VAR_032327
VAR_032327 disease not phenotype-associated
VAR_032328 commonName VAR_032328
VAR_032328 disease not phenotype-associated
VAR_032329 commonName VAR_032329
VAR_032329 disease not phenotype-associated
VAR_032330 commonName VAR_032330
VAR_032330 disease not phenotype-associated
VAR_032331 commonName VAR_032331
VAR_032331 disease not phenotype-associated
VAR_032332 commonName VAR_032332
VAR_032332 disease not phenotype-associated
VAR_032333 commonName VAR_032333
VAR_032333 disease not phenotype-associated
VAR_032334 commonName VAR_032334
VAR_032334 disease not phenotype-associated
VAR_032335 commonName VAR_032335
VAR_032335 disease not phenotype-associated
VAR_032336 commonName VAR_032336
VAR_032336 disease not phenotype-associated
VAR_032337 commonName VAR_032337
VAR_032337 disease not phenotype-associated
VAR_032339 commonName VAR_032339
VAR_032339 disease not phenotype-associated
VAR_032340 commonName VAR_032340
VAR_032340 disease not phenotype-associated
VAR_032341 commonName VAR_032341
VAR_032341 disease not phenotype-associated
VAR_032342 commonName VAR_032342
VAR_032342 disease not phenotype-associated
VAR_032343 commonName VAR_032343
VAR_032343 disease not phenotype-associated
VAR_032344 commonName VAR_032344
VAR_032344 disease not phenotype-associated
VAR_032345 commonName VAR_032345
VAR_032345 disease not phenotype-associated
VAR_032346 commonName VAR_032346
VAR_032346 disease not phenotype-associated
VAR_032347 commonName VAR_032347
VAR_032347 disease not phenotype-associated
VAR_032348 commonName VAR_032348
VAR_032348 disease not phenotype-associated
VAR_032349 commonName VAR_032349
VAR_032349 disease not phenotype-associated
VAR_032352 commonName VAR_032352
VAR_032352 disease not phenotype-associated
VAR_032353 commonName VAR_032353
VAR_032353 disease not phenotype-associated
VAR_032354 commonName VAR_032354
VAR_032354 disease not phenotype-associated
VAR_032356 commonName VAR_032356
VAR_032356 disease not phenotype-associated
VAR_032357 commonName VAR_032357
VAR_032357 disease not phenotype-associated
VAR_032358 commonName VAR_032358
VAR_032358 disease not phenotype-associated
VAR_032359 commonName VAR_032359
VAR_032359 disease not phenotype-associated
VAR_032360 commonName VAR_032360
VAR_032360 disease not phenotype-associated
VAR_032361 commonName VAR_032361
VAR_032361 disease not phenotype-associated
VAR_032362 commonName VAR_032362
VAR_032362 disease not phenotype-associated
VAR_032363 commonName VAR_032363
VAR_032363 disease not phenotype-associated
VAR_032364 commonName VAR_032364
VAR_032364 disease not phenotype-associated
VAR_032365 commonName VAR_032365
VAR_032365 disease not phenotype-associated
VAR_032366 commonName VAR_032366
VAR_032366 disease not phenotype-associated
VAR_032367 commonName VAR_032367
VAR_032367 disease not phenotype-associated
VAR_032368 commonName VAR_032368
VAR_032368 disease not phenotype-associated
VAR_032369 commonName VAR_032369
VAR_032369 disease not phenotype-associated
VAR_032374 commonName VAR_032374
VAR_032374 disease not phenotype-associated
VAR_032375 commonName VAR_032375
VAR_032375 disease not phenotype-associated
VAR_032376 commonName VAR_032376
VAR_032376 disease not phenotype-associated
VAR_032381 commonName VAR_032381
VAR_032381 disease not phenotype-associated
VAR_032382 commonName VAR_032382
VAR_032382 disease not phenotype-associated
VAR_032383 commonName VAR_032383
VAR_032383 disease not phenotype-associated
VAR_032384 commonName VAR_032384
VAR_032384 disease not phenotype-associated
VAR_032385 commonName VAR_032385
VAR_032385 disease not phenotype-associated
VAR_032386 commonName VAR_032386
HbVar.679 phenoCommon Hemoglobin variant
HbVar.680 protEffect HBD 142(H19) Leu>Pro
VAR_032386 disease not phenotype-associated
VAR_032387 commonName VAR_032387
VAR_032387 disease not phenotype-associated
VAR_032388 commonName VAR_032388
VAR_032388 disease not phenotype-associated
VAR_032389 commonName VAR_032389
VAR_032389 disease not phenotype-associated
VAR_032390 commonName VAR_032390
VAR_032390 disease not phenotype-associated
VAR_032391 commonName VAR_032391
VAR_032391 disease not phenotype-associated
VAR_032392 commonName VAR_032392
VAR_032392 disease not phenotype-associated
VAR_032393 commonName VAR_032393
VAR_032393 disease not phenotype-associated
VAR_032394 commonName VAR_032394
VAR_032394 disease phenotype-associated
VAR_032394 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032395 commonName VAR_032395
VAR_032395 disease phenotype-associated
VAR_032395 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_032396 commonName VAR_032396
VAR_032396 disease not phenotype-associated
VAR_032397 commonName VAR_032397
VAR_032397 disease phenotype-associated
VAR_032397 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032398 commonName VAR_032398
VAR_032398 disease phenotype-associated
VAR_032398 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032399 commonName VAR_032399
VAR_032399 disease phenotype-associated
VAR_032399 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_032400 commonName VAR_032400
VAR_032400 disease phenotype-associated
VAR_032400 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032401 commonName VAR_032401
VAR_032401 disease phenotype-associated
VAR_032401 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032402 commonName VAR_032402
VAR_032402 disease phenotype-associated
VAR_032402 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032403 commonName VAR_032403
VAR_032403 disease phenotype-associated
VAR_032403 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032404 commonName VAR_032404
VAR_032404 disease phenotype-associated
VAR_032404 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032405 commonName VAR_032405
VAR_032405 disease phenotype-associated
VAR_032405 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_032406 commonName VAR_032406
VAR_032406 disease phenotype-associated
VAR_032406 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032407 commonName VAR_032407
VAR_032407 disease phenotype-associated
VAR_032407 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800]
VAR_032408 commonName VAR_032408
VAR_032408 disease phenotype-associated
VAR_032408 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032409 commonName VAR_032409
VAR_032409 disease phenotype-associated
VAR_032409 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032410 commonName VAR_032410
VAR_032410 disease not phenotype-associated
VAR_032411 commonName VAR_032411
VAR_032411 disease not phenotype-associated
VAR_032412 commonName VAR_032412
VAR_032412 disease phenotype-associated
VAR_032412 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032413 commonName VAR_032413
VAR_032413 disease phenotype-associated
VAR_032413 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032414 commonName VAR_032414
VAR_032414 disease phenotype-associated
VAR_032414 phenoCommon Gaucher disease (GD) [MIM:230800]
VAR_032417 commonName VAR_032417
VAR_032417 disease not phenotype-associated
VAR_032418 commonName VAR_032418
VAR_032418 disease not phenotype-associated
VAR_032419 commonName VAR_032419
VAR_032419 disease not phenotype-associated
VAR_032420 commonName VAR_032420
VAR_032420 disease not phenotype-associated
VAR_032421 commonName VAR_032421
VAR_032421 disease not phenotype-associated
VAR_032422 commonName VAR_032422
VAR_032422 disease not phenotype-associated
VAR_032423 commonName VAR_032423
VAR_032423 disease phenotype-associated
VAR_032423 phenoCommon Torg-Winchester syndrome (TWS) [MIM:259600]
VAR_032424 commonName VAR_032424
VAR_032424 disease not phenotype-associated
VAR_032425 commonName VAR_032425
VAR_032425 disease phenotype-associated
VAR_032425 phenoCommon Torg-Winchester syndrome (TWS) [MIM:259600]
VAR_032426 commonName VAR_032426
VAR_032426 disease not phenotype-associated
VAR_032427 commonName VAR_032427
VAR_032427 disease not phenotype-associated
VAR_032428 commonName VAR_032428
VAR_032428 disease not phenotype-associated
VAR_032429 commonName VAR_032429
VAR_032429 disease not phenotype-associated
VAR_032430 commonName VAR_032430
VAR_032430 disease not phenotype-associated
VAR_032431 commonName VAR_032431
VAR_032431 disease not phenotype-associated
VAR_032432 commonName VAR_032432
VAR_032432 disease not phenotype-associated
VAR_032433 commonName VAR_032433
VAR_032433 disease phenotype-associated
VAR_032433 phenoCommon Microcephaly primary type 6 (MCPH6) [MIM:608393]
VAR_032434 commonName VAR_032434
VAR_032434 disease phenotype-associated
VAR_032434 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032435 commonName VAR_032435
VAR_032435 disease phenotype-associated
VAR_032435 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032436 commonName VAR_032436
VAR_032436 disease phenotype-associated
VAR_032436 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032437 commonName VAR_032437
VAR_032437 disease phenotype-associated
VAR_032437 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032438 commonName VAR_032438
VAR_032438 disease phenotype-associated
VAR_032438 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032439 commonName VAR_032439
VAR_032439 disease phenotype-associated
VAR_032439 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_032440 commonName VAR_032440
VAR_032440 disease not phenotype-associated
VAR_032441 commonName VAR_032441
VAR_032441 disease not phenotype-associated
VAR_032442 commonName VAR_032442
VAR_032442 disease not phenotype-associated
VAR_032443 commonName VAR_032443
VAR_032443 disease not phenotype-associated
VAR_032444 commonName VAR_032444
VAR_032444 disease not phenotype-associated
VAR_032445 commonName VAR_032445
VAR_032445 disease not phenotype-associated
VAR_032446 commonName VAR_032446
VAR_032446 disease not phenotype-associated
VAR_032447 commonName VAR_032447
VAR_032447 disease not phenotype-associated
VAR_032448 commonName VAR_032448
VAR_032448 disease not phenotype-associated
VAR_032449 commonName VAR_032449
VAR_032449 disease not phenotype-associated
VAR_032450 commonName VAR_032450
VAR_032450 disease not phenotype-associated
VAR_032451 commonName VAR_032451
VAR_032451 disease not phenotype-associated
VAR_032453 commonName VAR_032453
VAR_032453 disease not phenotype-associated
VAR_032454 commonName VAR_032454
VAR_032454 disease not phenotype-associated
VAR_032455 commonName VAR_032455
VAR_032455 disease not phenotype-associated
VAR_032456 commonName VAR_032456
VAR_032456 disease not phenotype-associated
VAR_032457 commonName VAR_032457
VAR_032457 disease not phenotype-associated
VAR_032458 commonName VAR_032458
VAR_032458 disease not phenotype-associated
VAR_032459 commonName VAR_032459
VAR_032459 disease phenotype-associated
VAR_032459 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032460 commonName VAR_032460
VAR_032460 disease phenotype-associated
VAR_032460 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032461 commonName VAR_032461
VAR_032461 disease phenotype-associated
VAR_032461 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032462 commonName VAR_032462
VAR_032462 disease phenotype-associated
VAR_032462 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
VAR_032463 commonName VAR_032463
VAR_032463 disease phenotype-associated
VAR_032463 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032464 commonName VAR_032464
VAR_032464 disease phenotype-associated
VAR_032464 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032465 commonName VAR_032465
VAR_032465 disease phenotype-associated
VAR_032465 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032466 commonName VAR_032466
VAR_032466 disease phenotype-associated
VAR_032466 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032467 commonName VAR_032467
VAR_032467 disease phenotype-associated
VAR_032467 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032468 commonName VAR_032468
VAR_032468 disease phenotype-associated
VAR_032468 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032469 commonName VAR_032469
VAR_032469 disease not phenotype-associated
VAR_032470 commonName VAR_032470
VAR_032470 disease phenotype-associated
VAR_032470 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032471 commonName VAR_032471
VAR_032471 disease phenotype-associated
VAR_032471 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032472 commonName VAR_032472
VAR_032472 disease phenotype-associated
VAR_032472 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032473 commonName VAR_032473
VAR_032473 disease phenotype-associated
VAR_032473 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032474 commonName VAR_032474
VAR_032474 disease phenotype-associated
VAR_032474 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_032475 commonName VAR_032475
VAR_032475 disease phenotype-associated
VAR_032475 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
VAR_032476 commonName VAR_032476
VAR_032476 disease phenotype-associated
VAR_032476 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
VAR_032478 commonName VAR_032478
VAR_032478 disease not phenotype-associated
VAR_032479 commonName VAR_032479
VAR_032479 disease not phenotype-associated
VAR_032480 commonName VAR_032480
VAR_032480 disease not phenotype-associated
VAR_032494 commonName VAR_032494
VAR_032494 disease not phenotype-associated
VAR_032495 commonName VAR_032495
VAR_032495 disease not phenotype-associated
VAR_032496 commonName VAR_032496
VAR_032496 disease not phenotype-associated
VAR_032497 commonName VAR_032497
VAR_032497 disease not phenotype-associated
VAR_032498 commonName VAR_032498
VAR_032498 disease not phenotype-associated
VAR_032499 commonName VAR_032499
VAR_032499 disease not phenotype-associated
VAR_032500 commonName VAR_032500
VAR_032500 disease not phenotype-associated
VAR_032501 commonName VAR_032501
VAR_032501 disease not phenotype-associated
VAR_032502 commonName VAR_032502
VAR_032502 disease not phenotype-associated
VAR_032505 commonName VAR_032505
VAR_032505 disease not phenotype-associated
VAR_032506 commonName VAR_032506
VAR_032506 disease not phenotype-associated
VAR_032507 commonName VAR_032507
VAR_032507 disease not phenotype-associated
VAR_032508 commonName VAR_032508
VAR_032508 disease not phenotype-associated
VAR_032509 commonName VAR_032509
VAR_032509 disease not phenotype-associated
VAR_032510 commonName VAR_032510
VAR_032510 disease not phenotype-associated
VAR_032511 commonName VAR_032511
VAR_032511 disease not phenotype-associated
VAR_032512 commonName VAR_032512
VAR_032512 disease not phenotype-associated
VAR_032513 commonName VAR_032513
VAR_032513 disease not phenotype-associated
VAR_032514 commonName VAR_032514
VAR_032514 disease not phenotype-associated
VAR_032516 commonName VAR_032516
VAR_032516 disease not phenotype-associated
VAR_032517 commonName VAR_032517
VAR_032517 disease not phenotype-associated
VAR_032518 commonName VAR_032518
VAR_032518 disease not phenotype-associated
VAR_032519 commonName VAR_032519
VAR_032519 disease not phenotype-associated
VAR_032520 commonName VAR_032520
VAR_032520 disease not phenotype-associated
VAR_032521 commonName VAR_032521
VAR_032521 disease not phenotype-associated
VAR_032522 commonName VAR_032522
VAR_032522 disease not phenotype-associated
VAR_032523 commonName VAR_032523
VAR_032523 disease not phenotype-associated
VAR_032525 commonName VAR_032525
VAR_032525 disease not phenotype-associated
VAR_032526 commonName VAR_032526
VAR_032526 disease not phenotype-associated
VAR_032527 commonName VAR_032527
VAR_032527 disease not phenotype-associated
VAR_032528 commonName VAR_032528
VAR_032528 disease not phenotype-associated
VAR_032529 commonName VAR_032529
VAR_032529 disease not phenotype-associated
VAR_032530 commonName VAR_032530
VAR_032530 disease not phenotype-associated
VAR_032531 commonName VAR_032531
VAR_032531 disease not phenotype-associated
VAR_032532 commonName VAR_032532
VAR_032532 disease not phenotype-associated
VAR_032533 commonName VAR_032533
VAR_032533 disease not phenotype-associated
VAR_032534 commonName VAR_032534
VAR_032534 disease not phenotype-associated
VAR_032535 commonName VAR_032535
VAR_032535 disease not phenotype-associated
VAR_032536 commonName VAR_032536
VAR_032536 disease not phenotype-associated
VAR_032538 commonName VAR_032538
VAR_032538 disease not phenotype-associated
VAR_032540 commonName VAR_032540
VAR_032540 disease not phenotype-associated
VAR_032541 commonName VAR_032541
VAR_032541 disease not phenotype-associated
VAR_032542 commonName VAR_032542
VAR_032542 disease not phenotype-associated
VAR_032543 commonName VAR_032543
VAR_032543 disease not phenotype-associated
VAR_032544 commonName VAR_032544
VAR_032544 disease not phenotype-associated
VAR_032545 commonName VAR_032545
VAR_032545 disease not phenotype-associated
VAR_032546 commonName VAR_032546
VAR_032546 disease not phenotype-associated
VAR_032547 commonName VAR_032547
VAR_032547 disease not phenotype-associated
VAR_032548 commonName VAR_032548
VAR_032548 disease not phenotype-associated
VAR_032549 commonName VAR_032549
VAR_032549 disease not phenotype-associated
VAR_032550 commonName VAR_032550
VAR_032550 disease not phenotype-associated
VAR_032551 commonName VAR_032551
VAR_032551 disease not phenotype-associated
VAR_032552 commonName VAR_032552
VAR_032552 disease not phenotype-associated
VAR_032553 commonName VAR_032553
VAR_032553 disease not phenotype-associated
VAR_032554 commonName VAR_032554
VAR_032554 disease not phenotype-associated
VAR_032555 commonName VAR_032555
VAR_032555 disease not phenotype-associated
VAR_032556 commonName VAR_032556
VAR_032556 disease not phenotype-associated
VAR_032557 commonName VAR_032557
VAR_032557 disease not phenotype-associated
VAR_032558 commonName VAR_032558
VAR_032558 disease not phenotype-associated
VAR_032559 commonName VAR_032559
VAR_032559 disease not phenotype-associated
VAR_032560 commonName VAR_032560
VAR_032560 disease not phenotype-associated
VAR_032561 commonName VAR_032561
VAR_032561 disease not phenotype-associated
VAR_032562 commonName VAR_032562
VAR_032562 disease not phenotype-associated
VAR_032563 commonName VAR_032563
VAR_032563 disease not phenotype-associated
VAR_032564 commonName VAR_032564
VAR_032564 disease not phenotype-associated
VAR_032565 commonName VAR_032565
VAR_032565 disease not phenotype-associated
VAR_032566 commonName VAR_032566
VAR_032566 disease not phenotype-associated
VAR_032567 commonName VAR_032567
VAR_032567 disease not phenotype-associated
VAR_032568 commonName VAR_032568
VAR_032568 disease not phenotype-associated
VAR_032572 commonName VAR_032572
VAR_032572 disease not phenotype-associated
VAR_032573 commonName VAR_032573
VAR_032573 disease not phenotype-associated
VAR_032574 commonName VAR_032574
VAR_032574 disease not phenotype-associated
VAR_032575 commonName VAR_032575
VAR_032575 disease not phenotype-associated
VAR_032576 commonName VAR_032576
VAR_032576 disease not phenotype-associated
VAR_032577 commonName VAR_032577
VAR_032577 disease not phenotype-associated
VAR_032578 commonName VAR_032578
VAR_032578 disease not phenotype-associated
VAR_032579 commonName VAR_032579
VAR_032579 disease not phenotype-associated
VAR_032580 commonName VAR_032580
VAR_032580 disease not phenotype-associated
VAR_032582 commonName VAR_032582
VAR_032582 disease not phenotype-associated
VAR_032583 commonName VAR_032583
VAR_032583 disease not phenotype-associated
VAR_032584 commonName VAR_032584
VAR_032584 disease not phenotype-associated
VAR_032585 commonName VAR_032585
VAR_032585 disease not phenotype-associated
VAR_032586 commonName VAR_032586
VAR_032586 disease not phenotype-associated
VAR_032591 commonName VAR_032591
VAR_032591 disease not phenotype-associated
VAR_032592 commonName VAR_032592
VAR_032592 disease not phenotype-associated
VAR_032593 commonName VAR_032593
VAR_032593 disease not phenotype-associated
VAR_032594 commonName VAR_032594
VAR_032594 disease not phenotype-associated
VAR_032595 commonName VAR_032595
VAR_032595 disease not phenotype-associated
VAR_032596 commonName VAR_032596
VAR_032596 disease not phenotype-associated
VAR_032597 commonName VAR_032597
VAR_032597 disease not phenotype-associated
VAR_032598 commonName VAR_032598
VAR_032598 disease not phenotype-associated
VAR_032599 commonName VAR_032599
VAR_032599 disease not phenotype-associated
VAR_032600 commonName VAR_032600
VAR_032600 disease not phenotype-associated
VAR_032601 commonName VAR_032601
VAR_032601 disease not phenotype-associated
VAR_032602 commonName VAR_032602
VAR_032602 disease not phenotype-associated
VAR_032605 commonName VAR_032605
VAR_032605 disease not phenotype-associated
VAR_032606 commonName VAR_032606
VAR_032606 disease not phenotype-associated
VAR_032607 commonName VAR_032607
VAR_032607 disease not phenotype-associated
VAR_032608 commonName VAR_032608
VAR_032608 disease not phenotype-associated
VAR_032610 commonName VAR_032610
VAR_032610 disease not phenotype-associated
VAR_032612 commonName VAR_032612
VAR_032612 disease not phenotype-associated
VAR_032613 commonName VAR_032613
VAR_032614 commonName VAR_032614
VAR_032614 disease not phenotype-associated
VAR_032615 commonName VAR_032615
VAR_032615 disease not phenotype-associated
VAR_032616 commonName VAR_032616
VAR_032616 disease not phenotype-associated
VAR_032617 commonName VAR_032617
VAR_032617 disease not phenotype-associated
VAR_032618 commonName VAR_032618
VAR_032618 disease not phenotype-associated
VAR_032619 commonName VAR_032619
VAR_032619 disease not phenotype-associated
VAR_032620 commonName VAR_032620
VAR_032620 disease not phenotype-associated
VAR_032621 commonName VAR_032621
VAR_032621 disease not phenotype-associated
VAR_032622 commonName VAR_032622
VAR_032622 disease not phenotype-associated
VAR_032623 commonName VAR_032623
VAR_032623 disease not phenotype-associated
VAR_032624 commonName VAR_032624
VAR_032624 disease not phenotype-associated
VAR_032625 commonName VAR_032625
VAR_032625 disease phenotype-associated
VAR_032625 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
VAR_032626 commonName VAR_032626
VAR_032626 disease phenotype-associated
VAR_032626 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
VAR_032627 commonName VAR_032627
VAR_032627 disease phenotype-associated
VAR_032627 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
VAR_032630 commonName VAR_032630
VAR_032630 disease phenotype-associated
VAR_032630 phenoCommon Inclusion body myopathy type 3 (IBM3) [MIM:605637]
VAR_032631 commonName VAR_032631
VAR_032632 commonName VAR_032632
VAR_032632 disease not phenotype-associated
VAR_032633 commonName VAR_032633
VAR_032633 disease not phenotype-associated
VAR_032634 commonName VAR_032634
VAR_032634 disease phenotype-associated
VAR_032634 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
VAR_032635 comment One patient with clinical findings suggesting hamartoma tumor syndrome
VAR_032635 commonName VAR_032635
VAR_032636 commonName VAR_032636
VAR_032636 disease phenotype-associated
VAR_032636 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
VAR_032637 commonName VAR_032637
VAR_032637 disease phenotype-associated
VAR_032637 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]
VAR_032638 commonName VAR_032638
VAR_032638 disease not phenotype-associated
VAR_032639 commonName VAR_032639
VAR_032639 disease not phenotype-associated
VAR_032640 commonName VAR_032640
VAR_032640 disease not phenotype-associated
VAR_032641 commonName VAR_032641
VAR_032641 disease not phenotype-associated
VAR_032642 commonName VAR_032642
VAR_032642 disease not phenotype-associated
VAR_032643 commonName VAR_032643
VAR_032644 commonName VAR_032644
VAR_032644 disease not phenotype-associated
VAR_032645 commonName VAR_032645
VAR_032645 disease not phenotype-associated
VAR_032646 commonName VAR_032646
VAR_032646 disease not phenotype-associated
VAR_032647 commonName VAR_032647
VAR_032647 disease not phenotype-associated
VAR_032648 commonName VAR_032648
VAR_032648 disease not phenotype-associated
VAR_032649 commonName VAR_032649
VAR_032649 disease not phenotype-associated
VAR_032650 commonName VAR_032650
VAR_032650 disease not phenotype-associated
VAR_032651 commonName VAR_032651
VAR_032651 disease not phenotype-associated
VAR_032652 commonName VAR_032652
VAR_032652 disease not phenotype-associated
VAR_032653 commonName VAR_032653
VAR_032653 disease not phenotype-associated
VAR_032654 commonName VAR_032654
VAR_032654 disease not phenotype-associated
VAR_032669 commonName VAR_032669
VAR_032669 disease not phenotype-associated
VAR_032670 commonName VAR_032670
VAR_032670 disease not phenotype-associated
VAR_032671 commonName VAR_032671
VAR_032671 disease not phenotype-associated
VAR_032672 commonName VAR_032672
VAR_032672 disease not phenotype-associated
VAR_032673 commonName VAR_032673
VAR_032673 disease not phenotype-associated
VAR_032674 commonName VAR_032674
VAR_032674 disease not phenotype-associated
VAR_032675 commonName VAR_032675
VAR_032675 disease not phenotype-associated
VAR_032676 comment A lung large cell carcinoma sample
VAR_032676 commonName VAR_032676
VAR_032677 comment A melanoma sample
VAR_032677 commonName VAR_032677
VAR_032678 commonName VAR_032678
VAR_032678 disease not phenotype-associated
VAR_032679 comment An ovarian mucinous carcinoma sample
VAR_032679 commonName VAR_032679
VAR_032680 comment A lung adenocarcinoma sample
VAR_032680 commonName VAR_032680
VAR_032681 comment An ovarian mucinous carcinoma sample
VAR_032681 commonName VAR_032681
VAR_032682 commonName VAR_032682
VAR_032682 disease not phenotype-associated
VAR_032683 commonName VAR_032683
VAR_032683 disease not phenotype-associated
VAR_032684 commonName VAR_032684
VAR_032684 disease not phenotype-associated
VAR_032685 commonName VAR_032685
VAR_032685 disease not phenotype-associated
VAR_032686 commonName VAR_032686
VAR_032686 disease not phenotype-associated
VAR_032687 commonName VAR_032687
VAR_032687 disease not phenotype-associated
VAR_032689 commonName VAR_032689
VAR_032690 commonName VAR_032690
VAR_032690 disease not phenotype-associated
VAR_032695 commonName VAR_032695
VAR_032696 commonName VAR_032696
VAR_032696 disease phenotype-associated
VAR_032696 phenoCommon Acute myelogenous leukemia (AML) [MIM:601626]
VAR_032697 commonName VAR_032697
VAR_032697 disease phenotype-associated
VAR_032697 phenoCommon Acute myelogenous leukemia (AML) [MIM:601626]
VAR_032697 phenoCommon Polycythemia vera (PV) [MIM:263300]
VAR_032697 phenoCommon Thrombocythemia type 3 (THCYT3) [MIM:614521]
VAR_032698 commonName VAR_032698
VAR_032698 disease phenotype-associated
VAR_032698 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
VAR_032699 commonName VAR_032699
VAR_032699 disease phenotype-associated
VAR_032699 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]
VAR_032700 commonName VAR_032700
VAR_032700 disease phenotype-associated
VAR_032700 phenoCommon Factor V deficiency (FA5D) [MIM:227400]
VAR_032701 commonName VAR_032701
VAR_032701 disease phenotype-associated
VAR_032701 phenoCommon Factor V deficiency (FA5D) [MIM:227400]
VAR_032702 commonName VAR_032702
VAR_032703 commonName VAR_032703
VAR_032705 commonName VAR_032705
VAR_032705 disease phenotype-associated
VAR_032705 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271]
VAR_032706 commonName VAR_032706
VAR_032706 disease not phenotype-associated
VAR_032707 commonName VAR_032707
VAR_032707 disease not phenotype-associated
VAR_032708 commonName VAR_032708
VAR_032708 disease not phenotype-associated
VAR_032709 commonName VAR_032709
VAR_032709 disease not phenotype-associated
VAR_032710 commonName VAR_032710
VAR_032710 disease not phenotype-associated
VAR_032711 commonName VAR_032711
VAR_032711 disease phenotype-associated
VAR_032711 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]
VAR_032712 commonName VAR_032712
VAR_032712 disease phenotype-associated
VAR_032712 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032713 comment One patient with esophageal carcinoma
VAR_032713 commonName VAR_032713
VAR_032714 comment One patient with pancreatic cancer
VAR_032714 commonName VAR_032714
VAR_032715 commonName VAR_032715
VAR_032716 comment One patient with esophageal carcinoma
VAR_032716 commonName VAR_032716
VAR_032717 commonName VAR_032717
VAR_032717 disease phenotype-associated
VAR_032717 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032718 commonName VAR_032718
VAR_032718 disease phenotype-associated
VAR_032718 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032719 commonName VAR_032719
VAR_032719 disease phenotype-associated
VAR_032719 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032720 commonName VAR_032720
VAR_032721 commonName VAR_032721
VAR_032722 commonName VAR_032722
VAR_032722 disease phenotype-associated
VAR_032722 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032723 commonName VAR_032723
VAR_032723 disease phenotype-associated
VAR_032723 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032724 commonName VAR_032724
VAR_032724 disease phenotype-associated
VAR_032724 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032725 comment One patient with esophageal carcinoma
VAR_032725 commonName VAR_032725
VAR_032726 commonName VAR_032726
VAR_032727 commonName VAR_032727
VAR_032727 disease not phenotype-associated
VAR_032728 commonName VAR_032728
VAR_032728 disease phenotype-associated
VAR_032728 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032729 commonName VAR_032729
VAR_032729 disease phenotype-associated
VAR_032729 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032730 commonName VAR_032730
VAR_032730 disease phenotype-associated
VAR_032730 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
VAR_032731 commonName VAR_032731
VAR_032731 disease phenotype-associated
VAR_032731 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_032732 commonName VAR_032732
VAR_032732 disease phenotype-associated
VAR_032732 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
VAR_032733 commonName VAR_032733
VAR_032733 disease phenotype-associated
VAR_032733 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
VAR_032734 comment One patient with esophageal carcinoma
VAR_032734 commonName VAR_032734
VAR_032735 comment One patient with esophageal carcinoma
VAR_032735 commonName VAR_032735
VAR_032737 commonName VAR_032737
VAR_032737 disease phenotype-associated
VAR_032737 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]
VAR_032738 commonName VAR_032738
VAR_032738 disease phenotype-associated
VAR_032738 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032739 commonName VAR_032739
VAR_032739 disease phenotype-associated
VAR_032739 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032740 commonName VAR_032740
VAR_032740 disease phenotype-associated
VAR_032740 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032741 commonName VAR_032741
VAR_032741 disease phenotype-associated
VAR_032741 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032742 commonName VAR_032742
VAR_032742 disease phenotype-associated
VAR_032742 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032743 commonName VAR_032743
VAR_032743 disease phenotype-associated
VAR_032743 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032743 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]
VAR_032744 commonName VAR_032744
VAR_032744 disease phenotype-associated
VAR_032744 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032745 commonName VAR_032745
VAR_032745 disease phenotype-associated
VAR_032745 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032746 commonName VAR_032746
VAR_032746 disease phenotype-associated
VAR_032746 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032747 commonName VAR_032747
VAR_032747 disease phenotype-associated
VAR_032747 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032748 commonName VAR_032748
VAR_032748 disease phenotype-associated
VAR_032748 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
VAR_032749 commonName VAR_032749
VAR_032749 disease phenotype-associated
VAR_032749 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_032750 commonName VAR_032750
VAR_032750 disease phenotype-associated
VAR_032750 phenoCommon Bart-Pumphrey syndrome (BPS) [MIM:149200]
VAR_032751 commonName VAR_032751
VAR_032751 disease phenotype-associated
VAR_032751 phenoCommon Bart-Pumphrey syndrome (BPS) [MIM:149200]
VAR_032752 commonName VAR_032752
VAR_032752 disease phenotype-associated
VAR_032752 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_032753 commonName VAR_032753
VAR_032753 disease phenotype-associated
VAR_032753 phenoCommon Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]
VAR_032754 commonName VAR_032754
VAR_032754 disease not phenotype-associated
VAR_032755 commonName VAR_032755
VAR_032755 disease not phenotype-associated
VAR_032756 commonName VAR_032756
VAR_032756 disease not phenotype-associated
VAR_032757 commonName VAR_032757
VAR_032757 disease phenotype-associated
VAR_032757 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]
VAR_032758 commonName VAR_032758
VAR_032758 disease phenotype-associated
VAR_032758 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]
VAR_032759 commonName VAR_032759
VAR_032759 disease phenotype-associated
VAR_032759 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]
VAR_032761 commonName VAR_032761
VAR_032761 disease not phenotype-associated
VAR_032762 commonName VAR_032762
VAR_032762 disease not phenotype-associated
VAR_032763 commonName VAR_032763
VAR_032763 disease not phenotype-associated
VAR_032764 commonName VAR_032764
VAR_032764 disease not phenotype-associated
VAR_032766 commonName VAR_032766
VAR_032766 disease not phenotype-associated
VAR_032767 commonName VAR_032767
VAR_032767 disease not phenotype-associated
VAR_032768 commonName VAR_032768
VAR_032768 disease not phenotype-associated
VAR_032769 commonName VAR_032769
VAR_032769 disease not phenotype-associated
VAR_032770 commonName VAR_032770
VAR_032770 disease not phenotype-associated
VAR_032771 commonName VAR_032771
VAR_032771 disease not phenotype-associated
VAR_032774 commonName VAR_032774
VAR_032774 disease not phenotype-associated
VAR_032775 commonName VAR_032775
VAR_032775 disease not phenotype-associated
VAR_032776 commonName VAR_032776
VAR_032776 disease phenotype-associated
VAR_032776 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]
VAR_032786 commonName VAR_032786
VAR_032786 disease not phenotype-associated
VAR_032787 commonName VAR_032787
VAR_032787 disease not phenotype-associated
VAR_032788 commonName VAR_032788
VAR_032788 disease not phenotype-associated
VAR_032789 commonName VAR_032789
VAR_032789 disease not phenotype-associated
VAR_032790 commonName VAR_032790
VAR_032790 disease not phenotype-associated
VAR_032791 commonName VAR_032791
VAR_032791 disease not phenotype-associated
VAR_032792 comment A lung adenocarcinoma sample
VAR_032792 commonName VAR_032792
VAR_032793 commonName VAR_032793
VAR_032793 disease not phenotype-associated
VAR_032794 comment An ovarian mucinous carcinoma sample
VAR_032794 commonName VAR_032794
VAR_032795 commonName VAR_032795
VAR_032795 disease not phenotype-associated
VAR_032796 commonName VAR_032796
VAR_032796 disease not phenotype-associated
VAR_032797 comment An ovarian endometrioid cancer sample
VAR_032797 commonName VAR_032797
VAR_032798 comment A gastric adenocarcinoma sample
VAR_032798 commonName VAR_032798
VAR_032799 commonName VAR_032799
VAR_032799 disease not phenotype-associated
VAR_032800 commonName VAR_032800
VAR_032800 disease not phenotype-associated
VAR_032801 commonName VAR_032801
VAR_032801 disease not phenotype-associated
VAR_032802 commonName VAR_032802
VAR_032802 disease not phenotype-associated
VAR_032803 commonName VAR_032803
VAR_032803 disease not phenotype-associated
VAR_032804 commonName VAR_032804
VAR_032804 disease not phenotype-associated
VAR_032805 commonName VAR_032805
VAR_032805 disease not phenotype-associated
VAR_032806 commonName VAR_032806
VAR_032806 disease not phenotype-associated
VAR_032807 commonName VAR_032807
VAR_032807 disease not phenotype-associated
VAR_032808 commonName VAR_032808
VAR_032808 disease not phenotype-associated
VAR_032809 commonName VAR_032809
VAR_032809 disease not phenotype-associated
VAR_032810 comment A gastric adenocarcinoma sample
VAR_032810 commonName VAR_032810
VAR_032811 commonName VAR_032811
VAR_032811 disease not phenotype-associated
VAR_032812 commonName VAR_032812
VAR_032812 disease not phenotype-associated
VAR_032813 commonName VAR_032813
VAR_032813 disease not phenotype-associated
VAR_032814 commonName VAR_032814
VAR_032814 disease not phenotype-associated
VAR_032815 commonName VAR_032815
VAR_032815 disease not phenotype-associated
VAR_032816 commonName VAR_032816
VAR_032816 disease not phenotype-associated
VAR_032817 commonName VAR_032817
VAR_032817 disease not phenotype-associated
VAR_032818 commonName VAR_032818
VAR_032818 disease not phenotype-associated
VAR_032819 commonName VAR_032819
VAR_032819 disease not phenotype-associated
VAR_032820 commonName VAR_032820
VAR_032820 disease not phenotype-associated
VAR_032822 commonName VAR_032822
VAR_032822 disease not phenotype-associated
VAR_032823 commonName VAR_032823
VAR_032823 disease not phenotype-associated
VAR_032824 commonName VAR_032824
VAR_032824 disease not phenotype-associated
VAR_032825 commonName VAR_032825
VAR_032825 disease phenotype-associated
VAR_032825 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_032826 commonName VAR_032826
VAR_032826 disease phenotype-associated
VAR_032826 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_032827 commonName VAR_032827
VAR_032827 disease phenotype-associated
VAR_032827 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_032828 commonName VAR_032828
VAR_032828 disease phenotype-associated
VAR_032828 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_032829 commonName VAR_032829
VAR_032829 disease phenotype-associated
VAR_032829 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_032831 commonName VAR_032831
VAR_032831 disease not phenotype-associated
VAR_032832 commonName VAR_032832
VAR_032832 disease not phenotype-associated
VAR_032833 commonName VAR_032833
VAR_032833 disease not phenotype-associated
VAR_032834 commonName VAR_032834
VAR_032834 disease not phenotype-associated
VAR_032835 commonName VAR_032835
VAR_032835 disease not phenotype-associated
VAR_032836 commonName VAR_032836
VAR_032836 disease not phenotype-associated
VAR_032837 commonName VAR_032837
VAR_032837 disease not phenotype-associated
VAR_032838 commonName VAR_032838
VAR_032838 disease not phenotype-associated
VAR_032839 commonName VAR_032839
VAR_032839 disease not phenotype-associated
VAR_032840 commonName VAR_032840
VAR_032840 disease not phenotype-associated
VAR_032841 commonName VAR_032841
VAR_032841 disease not phenotype-associated
VAR_032842 commonName VAR_032842
VAR_032842 disease phenotype-associated
VAR_032842 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_032843 commonName VAR_032843
VAR_032843 disease phenotype-associated
VAR_032843 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_032844 commonName VAR_032844
VAR_032844 disease phenotype-associated
VAR_032844 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_032846 commonName VAR_032846
VAR_032846 disease not phenotype-associated
VAR_032847 commonName VAR_032847
VAR_032847 disease not phenotype-associated
VAR_032848 commonName VAR_032848
VAR_032848 disease not phenotype-associated
VAR_032849 commonName VAR_032849
VAR_032849 disease phenotype-associated
VAR_032849 phenoCommon Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]
VAR_032850 commonName VAR_032850
VAR_032850 disease phenotype-associated
VAR_032850 phenoCommon Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]
VAR_032851 commonName VAR_032851
VAR_032851 disease phenotype-associated
VAR_032851 phenoCommon Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]
VAR_032852 commonName VAR_032852
VAR_032852 disease phenotype-associated
VAR_032852 phenoCommon Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]
VAR_032853 commonName VAR_032853
VAR_032853 disease phenotype-associated
VAR_032853 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032854 commonName VAR_032854
VAR_032854 disease phenotype-associated
VAR_032854 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032855 commonName VAR_032855
VAR_032855 disease phenotype-associated
VAR_032855 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032856 commonName VAR_032856
VAR_032856 disease phenotype-associated
VAR_032856 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032857 commonName VAR_032857
VAR_032857 disease phenotype-associated
VAR_032857 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032858 commonName VAR_032858
VAR_032858 disease phenotype-associated
VAR_032858 phenoCommon Prostate cancer (PC) [MIM:176807]
VAR_032859 commonName VAR_032859
VAR_032859 disease not phenotype-associated
VAR_032860 commonName VAR_032860
VAR_032860 disease not phenotype-associated
VAR_032861 commonName VAR_032861
VAR_032861 disease not phenotype-associated
VAR_032862 commonName VAR_032862
VAR_032862 disease not phenotype-associated
VAR_032863 commonName VAR_032863
VAR_032863 disease not phenotype-associated
VAR_032864 commonName VAR_032864
VAR_032864 disease not phenotype-associated
VAR_032865 commonName VAR_032865
VAR_032865 disease not phenotype-associated
VAR_032866 commonName VAR_032866
VAR_032866 disease not phenotype-associated
VAR_032867 commonName VAR_032867
VAR_032867 disease not phenotype-associated
VAR_032868 commonName VAR_032868
VAR_032868 disease not phenotype-associated
VAR_032869 commonName VAR_032869
VAR_032869 disease not phenotype-associated
VAR_032870 commonName VAR_032870
VAR_032870 disease not phenotype-associated
VAR_032871 commonName VAR_032871
VAR_032871 disease phenotype-associated
VAR_032871 phenoCommon Mal de Meleda (MDM) [MIM:248300]
VAR_032872 commonName VAR_032872
VAR_032872 disease phenotype-associated
VAR_032872 phenoCommon Mal de Meleda (MDM) [MIM:248300]
VAR_032873 commonName VAR_032873
VAR_032873 disease phenotype-associated
VAR_032873 phenoCommon Mal de Meleda (MDM) [MIM:248300]
VAR_032874 commonName VAR_032874
VAR_032874 disease phenotype-associated
VAR_032874 phenoCommon Mal de Meleda (MDM) [MIM:248300]
VAR_032875 commonName VAR_032875
VAR_032875 disease phenotype-associated
VAR_032875 phenoCommon Mal de Meleda (MDM) [MIM:248300]
VAR_032877 commonName VAR_032877
VAR_032877 disease not phenotype-associated
VAR_032878 commonName VAR_032878
VAR_032878 disease not phenotype-associated
VAR_032879 commonName VAR_032879
VAR_032879 disease not phenotype-associated
VAR_032880 commonName VAR_032880
VAR_032880 disease not phenotype-associated
VAR_032881 commonName VAR_032881
VAR_032881 disease not phenotype-associated
VAR_032882 commonName VAR_032882
VAR_032882 disease not phenotype-associated
VAR_032883 commonName VAR_032883
VAR_032883 disease not phenotype-associated
VAR_032884 commonName VAR_032884
VAR_032884 disease not phenotype-associated
VAR_032885 commonName VAR_032885
VAR_032885 disease not phenotype-associated
VAR_032886 commonName VAR_032886
VAR_032886 disease not phenotype-associated
VAR_032887 commonName VAR_032887
VAR_032887 disease not phenotype-associated
VAR_032888 commonName VAR_032888
VAR_032888 disease not phenotype-associated
VAR_032889 commonName VAR_032889
VAR_032889 disease not phenotype-associated
VAR_032890 commonName VAR_032890
VAR_032890 disease not phenotype-associated
VAR_032891 commonName VAR_032891
VAR_032891 disease not phenotype-associated
VAR_032892 commonName VAR_032892
VAR_032892 disease not phenotype-associated
VAR_032893 commonName VAR_032893
VAR_032893 disease not phenotype-associated
VAR_032894 commonName VAR_032894
VAR_032894 disease not phenotype-associated
VAR_032895 commonName VAR_032895
VAR_032895 disease not phenotype-associated
VAR_032896 commonName VAR_032896
VAR_032896 disease not phenotype-associated
VAR_032897 commonName VAR_032897
VAR_032897 disease not phenotype-associated
VAR_032898 commonName VAR_032898
VAR_032898 disease not phenotype-associated
VAR_032899 commonName VAR_032899
VAR_032899 disease not phenotype-associated
VAR_032900 commonName VAR_032900
VAR_032900 disease not phenotype-associated
VAR_032901 commonName VAR_032901
VAR_032901 disease not phenotype-associated
VAR_032904 commonName VAR_032904
VAR_032904 disease not phenotype-associated
VAR_032905 commonName VAR_032905
VAR_032905 disease not phenotype-associated
VAR_032906 commonName VAR_032906
VAR_032906 disease not phenotype-associated
VAR_032907 commonName VAR_032907
VAR_032907 disease not phenotype-associated
VAR_032908 commonName VAR_032908
VAR_032908 disease not phenotype-associated
VAR_032910 commonName VAR_032910
VAR_032910 disease phenotype-associated
VAR_032910 phenoCommon Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
VAR_032911 commonName VAR_032911
VAR_032911 disease not phenotype-associated
VAR_032912 commonName VAR_032912
VAR_032912 disease not phenotype-associated
VAR_032913 commonName VAR_032913
VAR_032913 disease not phenotype-associated
VAR_032914 commonName VAR_032914
VAR_032914 disease not phenotype-associated
VAR_032915 commonName VAR_032915
VAR_032915 disease phenotype-associated
VAR_032915 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_032915 phenoCommon Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]
VAR_032916 commonName VAR_032916
VAR_032916 disease not phenotype-associated
VAR_032917 commonName VAR_032917
VAR_032917 disease phenotype-associated
VAR_032917 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_032918 commonName VAR_032918
VAR_032918 disease phenotype-associated
VAR_032918 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_032919 commonName VAR_032919
VAR_032919 disease phenotype-associated
VAR_032919 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_032921 commonName VAR_032921
VAR_032921 disease not phenotype-associated
VAR_032922 commonName VAR_032922
VAR_032922 disease not phenotype-associated
VAR_032923 commonName VAR_032923
VAR_032923 disease not phenotype-associated
VAR_032927 commonName VAR_032927
VAR_032927 disease not phenotype-associated
VAR_032928 commonName VAR_032928
VAR_032928 disease not phenotype-associated
VAR_032929 commonName VAR_032929
VAR_032929 disease not phenotype-associated
VAR_032930 commonName VAR_032930
VAR_032930 disease not phenotype-associated
VAR_032931 commonName VAR_032931
VAR_032931 disease not phenotype-associated
VAR_032932 commonName VAR_032932
VAR_032932 disease not phenotype-associated
VAR_032933 commonName VAR_032933
VAR_032933 disease not phenotype-associated
VAR_032934 commonName VAR_032934
VAR_032934 disease not phenotype-associated
VAR_032935 commonName VAR_032935
VAR_032935 disease not phenotype-associated
VAR_032936 commonName VAR_032936
VAR_032936 disease not phenotype-associated
VAR_032937 commonName VAR_032937
VAR_032937 disease not phenotype-associated
VAR_032938 commonName VAR_032938
VAR_032938 disease not phenotype-associated
VAR_032939 commonName VAR_032939
VAR_032939 disease not phenotype-associated
VAR_032940 commonName VAR_032940
VAR_032940 disease phenotype-associated
VAR_032940 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]
VAR_032941 commonName VAR_032941
VAR_032941 disease phenotype-associated
VAR_032941 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]
VAR_032942 commonName VAR_032942
VAR_032942 disease phenotype-associated
VAR_032942 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]
VAR_032943 commonName VAR_032943
VAR_032943 disease phenotype-associated
VAR_032943 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]
VAR_032944 commonName VAR_032944
VAR_032944 disease phenotype-associated
VAR_032944 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]
VAR_032945 commonName VAR_032945
VAR_032945 disease not phenotype-associated
VAR_032946 commonName VAR_032946
VAR_032946 disease not phenotype-associated
VAR_032947 commonName VAR_032947
VAR_032947 disease not phenotype-associated
VAR_032948 commonName VAR_032948
VAR_032948 disease not phenotype-associated
VAR_032949 commonName VAR_032949
VAR_032949 disease not phenotype-associated
VAR_032950 commonName VAR_032950
VAR_032950 disease not phenotype-associated
VAR_032951 commonName VAR_032951
VAR_032951 disease not phenotype-associated
VAR_032952 commonName VAR_032952
VAR_032952 disease phenotype-associated
VAR_032952 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032953 commonName VAR_032953
VAR_032953 disease phenotype-associated
VAR_032953 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032954 commonName VAR_032954
VAR_032954 disease phenotype-associated
VAR_032954 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032955 commonName VAR_032955
VAR_032955 disease phenotype-associated
VAR_032955 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032956 commonName VAR_032956
VAR_032956 disease phenotype-associated
VAR_032956 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032957 commonName VAR_032957
VAR_032957 disease phenotype-associated
VAR_032957 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032958 commonName VAR_032958
VAR_032958 disease phenotype-associated
VAR_032958 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828]
VAR_032959 commonName VAR_032959
VAR_032959 disease not phenotype-associated
VAR_032960 commonName VAR_032960
VAR_032960 disease phenotype-associated
VAR_032960 phenoCommon Vesicoureteral reflux type 2 (VUR2) [MIM:610878]
VAR_032961 commonName VAR_032961
VAR_032961 disease phenotype-associated
VAR_032961 phenoCommon Vesicoureteral reflux type 2 (VUR2) [MIM:610878]
VAR_032962 commonName VAR_032962
VAR_032962 disease not phenotype-associated
VAR_032963 commonName VAR_032963
VAR_032963 disease phenotype-associated
VAR_032963 phenoCommon Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]
VAR_032964 commonName VAR_032964
VAR_032964 disease phenotype-associated
VAR_032964 phenoCommon Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]
VAR_032970 commonName VAR_032970
VAR_032970 disease not phenotype-associated
VAR_032971 commonName VAR_032971
VAR_032971 disease not phenotype-associated
VAR_032972 commonName VAR_032972
VAR_032972 disease not phenotype-associated
VAR_032973 commonName VAR_032973
VAR_032973 disease not phenotype-associated
VAR_032974 commonName VAR_032974
VAR_032974 disease not phenotype-associated
VAR_032975 commonName VAR_032975
VAR_032975 disease phenotype-associated
VAR_032975 phenoCommon Holoprosencephaly type 9 (HPE9) [MIM:610829]
VAR_032976 commonName VAR_032976
VAR_032976 disease phenotype-associated
VAR_032976 phenoCommon Holoprosencephaly type 9 (HPE9) [MIM:610829]
VAR_032979 commonName VAR_032979
VAR_032979 disease phenotype-associated
VAR_032979 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
VAR_032980 commonName VAR_032980
VAR_032980 disease phenotype-associated
VAR_032980 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
VAR_032981 commonName VAR_032981
VAR_032981 disease phenotype-associated
VAR_032981 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
VAR_032982 commonName VAR_032982
VAR_032982 disease phenotype-associated
VAR_032982 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
VAR_032983 commonName VAR_032983
VAR_032983 disease phenotype-associated
VAR_032983 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
VAR_032984 commonName VAR_032984
VAR_032984 disease not phenotype-associated
VAR_032985 commonName VAR_032985
VAR_032985 disease not phenotype-associated
VAR_032986 commonName VAR_032986
VAR_032986 disease phenotype-associated
VAR_032986 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_032987 commonName VAR_032987
VAR_032987 disease phenotype-associated
VAR_032987 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_032988 commonName VAR_032988
VAR_032988 disease phenotype-associated
VAR_032988 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_032989 commonName VAR_032989
VAR_032989 disease phenotype-associated
VAR_032989 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_032990 commonName VAR_032990
VAR_032990 disease phenotype-associated
VAR_032990 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]
VAR_032991 commonName VAR_032991
VAR_032991 disease not phenotype-associated
VAR_032992 commonName VAR_032992
VAR_032992 disease not phenotype-associated
VAR_032993 commonName VAR_032993
VAR_032993 disease not phenotype-associated
VAR_032994 commonName VAR_032994
VAR_032994 disease not phenotype-associated
VAR_032995 commonName VAR_032995
VAR_032995 disease phenotype-associated
VAR_032995 phenoCommon Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]
VAR_032996 commonName VAR_032996
VAR_032996 disease not phenotype-associated
VAR_032997 commonName VAR_032997
VAR_032997 disease not phenotype-associated
VAR_032998 commonName VAR_032998
VAR_032998 disease not phenotype-associated
VAR_032999 commonName VAR_032999
VAR_032999 disease not phenotype-associated
VAR_033000 commonName VAR_033000
VAR_033000 disease not phenotype-associated
VAR_033001 commonName VAR_033001
VAR_033001 disease not phenotype-associated
VAR_033002 commonName VAR_033002
VAR_033002 disease not phenotype-associated
VAR_033003 commonName VAR_033003
VAR_033003 disease not phenotype-associated
VAR_033004 commonName VAR_033004
VAR_033004 disease not phenotype-associated
VAR_033005 commonName VAR_033005
VAR_033005 disease not phenotype-associated
VAR_033006 commonName VAR_033006
VAR_033006 disease not phenotype-associated
VAR_033007 commonName VAR_033007
VAR_033007 disease phenotype-associated
VAR_033007 phenoCommon Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
VAR_033009 commonName VAR_033009
VAR_033009 disease not phenotype-associated
VAR_033010 commonName VAR_033010
VAR_033010 disease phenotype-associated
VAR_033010 phenoCommon Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]
VAR_033012 commonName VAR_033012
VAR_033012 disease phenotype-associated
VAR_033012 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100]
VAR_033013 commonName VAR_033013
VAR_033013 disease phenotype-associated
VAR_033013 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100]
VAR_033014 commonName VAR_033014
VAR_033014 disease phenotype-associated
VAR_033014 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100]
VAR_033015 commonName VAR_033015
VAR_033015 disease phenotype-associated
VAR_033015 phenoCommon Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]
VAR_033016 commonName VAR_033016
VAR_033016 disease phenotype-associated
VAR_033016 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033017 commonName VAR_033017
VAR_033017 disease phenotype-associated
VAR_033017 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033018 commonName VAR_033018
VAR_033018 disease phenotype-associated
VAR_033018 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
VAR_033018 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033019 commonName VAR_033019
VAR_033019 disease phenotype-associated
VAR_033019 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033020 commonName VAR_033020
VAR_033020 disease phenotype-associated
VAR_033020 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033021 commonName VAR_033021
VAR_033021 disease phenotype-associated
VAR_033021 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
VAR_033021 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033022 commonName VAR_033022
VAR_033022 disease phenotype-associated
VAR_033022 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]
VAR_033024 commonName VAR_033024
VAR_033024 disease not phenotype-associated
VAR_033025 comment A breast cancer sample
VAR_033025 commonName VAR_033025
VAR_033026 comment A breast cancer sample
VAR_033026 commonName VAR_033026
VAR_033027 comment A breast cancer sample
VAR_033027 commonName VAR_033027
VAR_033028 comment A breast cancer sample
VAR_033028 commonName VAR_033028
VAR_033029 comment A breast cancer sample
VAR_033029 commonName VAR_033029
VAR_033030 comment A breast cancer sample
VAR_033030 commonName VAR_033030
VAR_033031 comment A breast cancer sample
VAR_033031 commonName VAR_033031
VAR_033032 comment A breast cancer sample
VAR_033032 commonName VAR_033032
VAR_033033 comment Sporadic cancers
VAR_033033 commonName VAR_033033
VAR_033034 comment Sporadic cancers
VAR_033034 commonName VAR_033034
VAR_033035 commonName VAR_033035
VAR_033035 disease phenotype-associated
VAR_033035 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_033036 comment Sporadic cancers
VAR_033036 commonName VAR_033036
VAR_033037 comment Sporadic cancers
VAR_033037 commonName VAR_033037
VAR_033038 comment Sporadic cancers
VAR_033038 commonName VAR_033038
VAR_033039 comment Sporadic cancers
VAR_033039 commonName VAR_033039
VAR_033040 commonName VAR_033040
VAR_033040 disease not phenotype-associated
VAR_033041 commonName VAR_033041
VAR_033041 disease not phenotype-associated
VAR_033042 commonName VAR_033042
VAR_033042 disease not phenotype-associated
VAR_033043 commonName VAR_033043
VAR_033043 disease not phenotype-associated
VAR_033044 commonName VAR_033044
VAR_033044 disease not phenotype-associated
VAR_033046 commonName VAR_033046
VAR_033046 disease not phenotype-associated
VAR_033047 commonName VAR_033047
VAR_033047 disease not phenotype-associated
VAR_033048 commonName VAR_033048
VAR_033048 disease not phenotype-associated
VAR_033049 commonName VAR_033049
VAR_033049 disease not phenotype-associated
VAR_033054 commonName VAR_033054
VAR_033054 disease phenotype-associated
VAR_033054 phenoCommon Duane-radial ray syndrome (DRRS) [MIM:607323]
VAR_033060 commonName VAR_033060
VAR_033060 disease not phenotype-associated
VAR_033061 commonName VAR_033061
VAR_033061 disease not phenotype-associated
VAR_033062 commonName VAR_033062
VAR_033062 disease not phenotype-associated
VAR_033063 commonName VAR_033063
VAR_033063 disease not phenotype-associated
VAR_033064 commonName VAR_033064
VAR_033064 disease not phenotype-associated
VAR_033065 commonName VAR_033065
VAR_033065 disease not phenotype-associated
VAR_033066 commonName VAR_033066
VAR_033066 disease not phenotype-associated
VAR_033067 commonName VAR_033067
VAR_033067 disease not phenotype-associated
VAR_033069 commonName VAR_033069
VAR_033069 disease phenotype-associated
VAR_033069 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033070 commonName VAR_033070
VAR_033070 disease phenotype-associated
VAR_033070 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033071 commonName VAR_033071
VAR_033071 disease phenotype-associated
VAR_033071 phenoCommon Boomerang dysplasia (BOOMD) [MIM:112310]
VAR_033072 commonName VAR_033072
VAR_033072 disease phenotype-associated
VAR_033072 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720]
VAR_033073 commonName VAR_033073
VAR_033073 disease phenotype-associated
VAR_033073 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720]
VAR_033074 commonName VAR_033074
VAR_033074 disease phenotype-associated
VAR_033074 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720]
VAR_033074 phenoCommon Atelosteogenesis type 3 (AO3) [MIM:108721]
VAR_033075 commonName VAR_033075
VAR_033075 disease phenotype-associated
VAR_033075 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033076 commonName VAR_033076
VAR_033076 disease phenotype-associated
VAR_033076 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033077 commonName VAR_033077
VAR_033077 disease phenotype-associated
VAR_033077 phenoCommon Boomerang dysplasia (BOOMD) [MIM:112310]
VAR_033078 commonName VAR_033078
VAR_033078 disease phenotype-associated
VAR_033078 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033079 commonName VAR_033079
VAR_033079 disease phenotype-associated
VAR_033079 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033080 commonName VAR_033080
VAR_033080 disease phenotype-associated
VAR_033080 phenoCommon Atelosteogenesis type 3 (AO3) [MIM:108721]
VAR_033081 commonName VAR_033081
VAR_033081 disease phenotype-associated
VAR_033081 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033083 commonName VAR_033083
VAR_033083 disease phenotype-associated
VAR_033083 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033084 commonName VAR_033084
VAR_033084 disease phenotype-associated
VAR_033084 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033085 commonName VAR_033085
VAR_033085 disease phenotype-associated
VAR_033085 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033086 commonName VAR_033086
VAR_033086 disease phenotype-associated
VAR_033086 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033087 commonName VAR_033087
VAR_033087 disease phenotype-associated
VAR_033087 phenoCommon Larsen syndrome (LRS) [MIM:150250]
VAR_033088 comment A hepatocellular carcinoma sample
VAR_033088 commonName VAR_033088
VAR_033089 comment A hepatocellular carcinoma sample
VAR_033089 commonName VAR_033089
VAR_033090 commonName VAR_033090
VAR_033091 commonName VAR_033091
VAR_033092 commonName VAR_033092
VAR_033093 commonName VAR_033093
VAR_033094 comment A hepatocellular carcinoma sample
VAR_033094 commonName VAR_033094
VAR_033095 commonName VAR_033095
VAR_033096 commonName VAR_033096
VAR_033097 commonName VAR_033097
VAR_033097 disease phenotype-associated
VAR_033097 phenoCommon Caffey disease (CAFFD) [MIM:114000]
VAR_033098 commonName VAR_033098
VAR_033098 disease not phenotype-associated
VAR_033099 commonName VAR_033099
VAR_033099 disease phenotype-associated
VAR_033099 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
VAR_033100 commonName VAR_033100
VAR_033100 disease phenotype-associated
VAR_033100 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
VAR_033101 commonName VAR_033101
VAR_033101 disease phenotype-associated
VAR_033101 phenoCommon Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
VAR_033102 commonName VAR_033102
VAR_033102 disease phenotype-associated
VAR_033102 phenoCommon Hereditary neuralgic amyotrophy (HNA) [MIM:162100]
VAR_033103 commonName VAR_033103
VAR_033103 disease phenotype-associated
VAR_033103 phenoCommon Optic atrophy type 3 (OPA3) [MIM:165300]
VAR_033104 commonName VAR_033104
VAR_033104 disease phenotype-associated
VAR_033104 phenoCommon Optic atrophy type 3 (OPA3) [MIM:165300]
VAR_033105 commonName VAR_033105
VAR_033105 disease not phenotype-associated
VAR_033106 commonName VAR_033106
VAR_033106 disease not phenotype-associated
VAR_033108 commonName VAR_033108
VAR_033108 disease phenotype-associated
VAR_033108 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_033109 commonName VAR_033109
VAR_033109 disease phenotype-associated
VAR_033109 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_033110 commonName VAR_033110
VAR_033110 disease phenotype-associated
VAR_033110 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_033111 commonName VAR_033111
VAR_033111 disease phenotype-associated
VAR_033111 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_033112 commonName VAR_033112
VAR_033112 disease phenotype-associated
VAR_033112 phenoCommon Opitz-Kaveggia syndrome (OKS) [MIM:305450]
VAR_033113 commonName VAR_033113
VAR_033113 disease phenotype-associated
VAR_033113 phenoCommon Crisponi syndrome (CRISPS) [MIM:601378]
VAR_033114 commonName VAR_033114
VAR_033114 disease phenotype-associated
VAR_033114 phenoCommon X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]
VAR_033115 commonName VAR_033115
VAR_033115 disease phenotype-associated
VAR_033115 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
VAR_033116 commonName VAR_033116
VAR_033116 disease not phenotype-associated
VAR_033118 commonName VAR_033118
VAR_033118 disease not phenotype-associated
VAR_033119 commonName VAR_033119
VAR_033119 disease not phenotype-associated
VAR_033120 commonName VAR_033120
VAR_033120 disease not phenotype-associated
VAR_033121 commonName VAR_033121
VAR_033121 disease not phenotype-associated
VAR_033123 commonName VAR_033123
VAR_033123 disease phenotype-associated
VAR_033123 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764]
VAR_033126 commonName VAR_033126
VAR_033126 disease phenotype-associated
VAR_033126 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764]
VAR_033127 commonName VAR_033127
VAR_033127 disease phenotype-associated
VAR_033127 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764]
VAR_033129 commonName VAR_033129
VAR_033129 disease phenotype-associated
VAR_033129 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_033130 commonName VAR_033130
VAR_033130 disease phenotype-associated
VAR_033130 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_033131 commonName VAR_033131
VAR_033131 disease phenotype-associated
VAR_033131 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_033132 commonName VAR_033132
VAR_033132 disease phenotype-associated
VAR_033132 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_033133 commonName VAR_033133
VAR_033134 comment A testicular tumor
VAR_033134 commonName VAR_033134
VAR_033135 commonName VAR_033135
VAR_033136 commonName VAR_033136
VAR_033137 commonName VAR_033137
VAR_033137 disease phenotype-associated
VAR_033137 phenoCommon Piebald trait (PBT) [MIM:172800]
VAR_033138 comment Melanoma
VAR_033138 commonName VAR_033138
VAR_033139 comment Melanoma
VAR_033139 commonName VAR_033139
VAR_033140 commonName VAR_033140
VAR_033140 disease phenotype-associated
VAR_033140 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300]
VAR_033141 comment Melanoma
VAR_033141 commonName VAR_033141
VAR_033142 commonName VAR_033142
VAR_033142 disease phenotype-associated
VAR_033142 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_033144 commonName VAR_033144
VAR_033144 disease phenotype-associated
VAR_033144 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_033145 commonName VAR_033145
VAR_033145 disease phenotype-associated
VAR_033145 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602]
VAR_033146 commonName VAR_033146
VAR_033146 disease not phenotype-associated
VAR_033147 commonName VAR_033147
VAR_033147 disease not phenotype-associated
VAR_033148 commonName VAR_033148
VAR_033148 disease not phenotype-associated
VAR_033150 commonName VAR_033150
VAR_033150 disease not phenotype-associated
VAR_033151 commonName VAR_033151
VAR_033151 disease not phenotype-associated
VAR_033152 commonName VAR_033152
VAR_033152 disease not phenotype-associated
VAR_033153 commonName VAR_033153
VAR_033153 disease not phenotype-associated
VAR_033154 commonName VAR_033154
VAR_033154 disease not phenotype-associated
VAR_033157 commonName VAR_033157
VAR_033157 disease not phenotype-associated
VAR_033158 commonName VAR_033158
VAR_033158 disease not phenotype-associated
VAR_033159 commonName VAR_033159
VAR_033159 disease not phenotype-associated
VAR_033160 commonName VAR_033160
VAR_033160 disease not phenotype-associated
VAR_033161 commonName VAR_033161
VAR_033161 disease not phenotype-associated
VAR_033162 commonName VAR_033162
VAR_033162 disease not phenotype-associated
VAR_033163 commonName VAR_033163
VAR_033163 disease not phenotype-associated
VAR_033164 commonName VAR_033164
VAR_033164 disease not phenotype-associated
VAR_033165 commonName VAR_033165
VAR_033165 disease not phenotype-associated
VAR_033166 commonName VAR_033166
VAR_033166 disease not phenotype-associated
VAR_033167 commonName VAR_033167
VAR_033167 disease not phenotype-associated
VAR_033168 commonName VAR_033168
VAR_033168 disease not phenotype-associated
VAR_033170 commonName VAR_033170
VAR_033170 disease not phenotype-associated
VAR_033171 commonName VAR_033171
VAR_033171 disease not phenotype-associated
VAR_033172 commonName VAR_033172
VAR_033172 disease not phenotype-associated
VAR_033173 commonName VAR_033173
VAR_033173 disease not phenotype-associated
VAR_033174 commonName VAR_033174
VAR_033174 disease not phenotype-associated
VAR_033175 commonName VAR_033175
VAR_033175 disease not phenotype-associated
VAR_033176 commonName VAR_033176
VAR_033176 disease not phenotype-associated
VAR_033177 commonName VAR_033177
VAR_033177 disease not phenotype-associated
VAR_033178 commonName VAR_033178
VAR_033178 disease not phenotype-associated
VAR_033179 commonName VAR_033179
VAR_033179 disease not phenotype-associated
VAR_033180 commonName VAR_033180
VAR_033180 disease not phenotype-associated
VAR_033181 commonName VAR_033181
VAR_033181 disease not phenotype-associated
VAR_033183 commonName VAR_033183
VAR_033183 disease not phenotype-associated
VAR_033184 commonName VAR_033184
VAR_033184 disease not phenotype-associated
VAR_033185 commonName VAR_033185
VAR_033185 disease not phenotype-associated
VAR_033186 commonName VAR_033186
VAR_033186 disease not phenotype-associated
VAR_033187 commonName VAR_033187
VAR_033187 disease not phenotype-associated
VAR_033188 commonName VAR_033188
VAR_033188 disease not phenotype-associated
VAR_033191 commonName VAR_033191
VAR_033191 disease not phenotype-associated
VAR_033192 commonName VAR_033192
VAR_033192 disease not phenotype-associated
VAR_033193 commonName VAR_033193
VAR_033193 disease not phenotype-associated
VAR_033194 commonName VAR_033194
VAR_033194 disease not phenotype-associated
VAR_033195 commonName VAR_033195
VAR_033195 disease not phenotype-associated
VAR_033196 commonName VAR_033196
VAR_033196 disease not phenotype-associated
VAR_033197 commonName VAR_033197
VAR_033197 disease not phenotype-associated
VAR_033198 commonName VAR_033198
VAR_033198 disease not phenotype-associated
VAR_033199 commonName VAR_033199
VAR_033199 disease not phenotype-associated
VAR_033200 commonName VAR_033200
VAR_033200 disease not phenotype-associated
VAR_033201 commonName VAR_033201
VAR_033201 disease not phenotype-associated
VAR_033202 commonName VAR_033202
VAR_033202 disease not phenotype-associated
VAR_033203 commonName VAR_033203
VAR_033203 disease not phenotype-associated
VAR_033204 commonName VAR_033204
VAR_033204 disease not phenotype-associated
VAR_033205 commonName VAR_033205
VAR_033205 disease not phenotype-associated
VAR_033207 commonName VAR_033207
VAR_033207 disease not phenotype-associated
VAR_033208 commonName VAR_033208
VAR_033208 disease not phenotype-associated
VAR_033209 commonName VAR_033209
VAR_033209 disease not phenotype-associated
VAR_033210 commonName VAR_033210
VAR_033210 disease not phenotype-associated
VAR_033211 commonName VAR_033211
VAR_033211 disease not phenotype-associated
VAR_033212 commonName VAR_033212
VAR_033212 disease not phenotype-associated
VAR_033213 commonName VAR_033213
VAR_033213 disease not phenotype-associated
VAR_033214 commonName VAR_033214
VAR_033214 disease not phenotype-associated
VAR_033215 commonName VAR_033215
VAR_033215 disease not phenotype-associated
VAR_033216 commonName VAR_033216
VAR_033216 disease not phenotype-associated
VAR_033217 commonName VAR_033217
VAR_033217 disease not phenotype-associated
VAR_033218 commonName VAR_033218
VAR_033218 disease not phenotype-associated
VAR_033219 commonName VAR_033219
VAR_033219 disease not phenotype-associated
VAR_033220 commonName VAR_033220
VAR_033220 disease not phenotype-associated
VAR_033221 commonName VAR_033221
VAR_033221 disease not phenotype-associated
VAR_033222 commonName VAR_033222
VAR_033222 disease not phenotype-associated
VAR_033223 commonName VAR_033223
VAR_033223 disease not phenotype-associated
VAR_033224 commonName VAR_033224
VAR_033224 disease not phenotype-associated
VAR_033225 commonName VAR_033225
VAR_033225 disease not phenotype-associated
VAR_033226 commonName VAR_033226
VAR_033226 disease not phenotype-associated
VAR_033227 commonName VAR_033227
VAR_033227 disease not phenotype-associated
VAR_033228 commonName VAR_033228
VAR_033228 disease not phenotype-associated
VAR_033229 commonName VAR_033229
VAR_033229 disease not phenotype-associated
VAR_033230 commonName VAR_033230
VAR_033230 disease not phenotype-associated
VAR_033231 commonName VAR_033231
VAR_033231 disease not phenotype-associated
VAR_033232 commonName VAR_033232
VAR_033232 disease not phenotype-associated
VAR_033233 commonName VAR_033233
VAR_033233 disease not phenotype-associated
VAR_033235 commonName VAR_033235
VAR_033235 disease not phenotype-associated
VAR_033237 commonName VAR_033237
VAR_033237 disease not phenotype-associated
VAR_033239 commonName VAR_033239
VAR_033239 disease not phenotype-associated
VAR_033240 commonName VAR_033240
VAR_033240 disease not phenotype-associated
VAR_033241 commonName VAR_033241
VAR_033241 disease not phenotype-associated
VAR_033242 commonName VAR_033242
VAR_033242 disease not phenotype-associated
VAR_033243 commonName VAR_033243
VAR_033243 disease not phenotype-associated
VAR_033245 commonName VAR_033245
VAR_033245 disease phenotype-associated
VAR_033245 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033246 commonName VAR_033246
VAR_033246 disease phenotype-associated
VAR_033246 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033247 commonName VAR_033247
VAR_033247 disease phenotype-associated
VAR_033247 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033248 commonName VAR_033248
VAR_033248 disease phenotype-associated
VAR_033248 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033249 commonName VAR_033249
VAR_033249 disease phenotype-associated
VAR_033249 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033250 commonName VAR_033250
VAR_033250 disease phenotype-associated
VAR_033250 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_033251 commonName VAR_033251
VAR_033251 disease not phenotype-associated
VAR_033252 commonName VAR_033252
VAR_033252 disease not phenotype-associated
VAR_033253 commonName VAR_033253
VAR_033253 disease not phenotype-associated
VAR_033254 commonName VAR_033254
VAR_033254 disease not phenotype-associated
VAR_033255 commonName VAR_033255
VAR_033255 disease phenotype-associated
VAR_033255 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_033256 commonName VAR_033256
VAR_033256 disease phenotype-associated
VAR_033256 phenoCommon Neutropenia severe congenital X-linked (XLN) [MIM:300299]
VAR_033257 commonName VAR_033257
VAR_033257 disease phenotype-associated
VAR_033257 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900]
VAR_033260 commonName VAR_033260
VAR_033260 disease phenotype-associated
VAR_033260 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
VAR_033261 commonName VAR_033261
VAR_033261 disease phenotype-associated
VAR_033261 phenoCommon Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]
VAR_033262 commonName VAR_033262
VAR_033262 disease phenotype-associated
VAR_033262 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
VAR_033263 commonName VAR_033263
VAR_033263 disease phenotype-associated
VAR_033263 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
VAR_033264 commonName VAR_033264
VAR_033264 disease not phenotype-associated
VAR_033265 commonName VAR_033265
VAR_033265 disease not phenotype-associated
VAR_033266 commonName VAR_033266
VAR_033266 disease not phenotype-associated
VAR_033267 commonName VAR_033267
VAR_033267 disease not phenotype-associated
VAR_033268 commonName VAR_033268
VAR_033268 disease not phenotype-associated
VAR_033269 commonName VAR_033269
VAR_033269 disease not phenotype-associated
VAR_033270 commonName VAR_033270
VAR_033270 disease not phenotype-associated
VAR_033271 commonName VAR_033271
VAR_033271 disease not phenotype-associated
VAR_033272 commonName VAR_033272
VAR_033272 disease not phenotype-associated
VAR_033273 commonName VAR_033273
VAR_033273 disease not phenotype-associated
VAR_033274 commonName VAR_033274
VAR_033274 disease not phenotype-associated
VAR_033275 commonName VAR_033275
VAR_033275 disease not phenotype-associated
VAR_033276 commonName VAR_033276
VAR_033276 disease not phenotype-associated
VAR_033277 commonName VAR_033277
VAR_033277 disease not phenotype-associated
VAR_033278 commonName VAR_033278
VAR_033278 disease not phenotype-associated
VAR_033279 commonName VAR_033279
VAR_033279 disease not phenotype-associated
VAR_033280 commonName VAR_033280
VAR_033280 disease not phenotype-associated
VAR_033281 commonName VAR_033281
VAR_033281 disease not phenotype-associated
VAR_033282 commonName VAR_033282
VAR_033282 disease not phenotype-associated
VAR_033283 commonName VAR_033283
VAR_033283 disease not phenotype-associated
VAR_033284 commonName VAR_033284
VAR_033284 disease not phenotype-associated
VAR_033285 commonName VAR_033285
VAR_033285 disease not phenotype-associated
VAR_033286 commonName VAR_033286
VAR_033286 disease not phenotype-associated
VAR_033287 commonName VAR_033287
VAR_033287 disease not phenotype-associated
VAR_033288 commonName VAR_033288
VAR_033288 disease not phenotype-associated
VAR_033289 commonName VAR_033289
VAR_033289 disease not phenotype-associated
VAR_033290 commonName VAR_033290
VAR_033290 disease not phenotype-associated
VAR_033291 commonName VAR_033291
VAR_033291 disease not phenotype-associated
VAR_033292 commonName VAR_033292
VAR_033292 disease not phenotype-associated
VAR_033293 commonName VAR_033293
VAR_033293 disease not phenotype-associated
VAR_033294 commonName VAR_033294
VAR_033294 disease not phenotype-associated
VAR_033295 commonName VAR_033295
VAR_033295 disease not phenotype-associated
VAR_033296 commonName VAR_033296
VAR_033296 disease not phenotype-associated
VAR_033297 commonName VAR_033297
VAR_033297 disease not phenotype-associated
VAR_033298 commonName VAR_033298
VAR_033298 disease not phenotype-associated
VAR_033299 commonName VAR_033299
VAR_033299 disease not phenotype-associated
VAR_033300 commonName VAR_033300
VAR_033300 disease not phenotype-associated
VAR_033301 commonName VAR_033301
VAR_033301 disease not phenotype-associated
VAR_033302 commonName VAR_033302
VAR_033302 disease not phenotype-associated
VAR_033303 commonName VAR_033303
VAR_033303 disease not phenotype-associated
VAR_033304 commonName VAR_033304
VAR_033304 disease not phenotype-associated
VAR_033305 commonName VAR_033305
VAR_033305 disease not phenotype-associated
VAR_033306 commonName VAR_033306
VAR_033306 disease not phenotype-associated
VAR_033307 commonName VAR_033307
VAR_033307 disease not phenotype-associated
VAR_033308 commonName VAR_033308
VAR_033308 disease not phenotype-associated
VAR_033309 commonName VAR_033309
VAR_033309 disease not phenotype-associated
VAR_033310 commonName VAR_033310
VAR_033310 disease not phenotype-associated
VAR_033311 commonName VAR_033311
VAR_033311 disease not phenotype-associated
VAR_033312 commonName VAR_033312
VAR_033312 disease not phenotype-associated
VAR_033314 commonName VAR_033314
VAR_033314 disease not phenotype-associated
VAR_033315 commonName VAR_033315
VAR_033315 disease not phenotype-associated
VAR_033316 commonName VAR_033316
VAR_033316 disease not phenotype-associated
VAR_033317 commonName VAR_033317
VAR_033317 disease not phenotype-associated
VAR_033318 commonName VAR_033318
VAR_033318 disease not phenotype-associated
VAR_033319 commonName VAR_033319
VAR_033319 disease not phenotype-associated
VAR_033320 commonName VAR_033320
VAR_033320 disease not phenotype-associated
VAR_033321 commonName VAR_033321
VAR_033321 disease not phenotype-associated
VAR_033322 commonName VAR_033322
VAR_033322 disease not phenotype-associated
VAR_033323 commonName VAR_033323
VAR_033323 disease not phenotype-associated
VAR_033324 commonName VAR_033324
VAR_033324 disease not phenotype-associated
VAR_033325 commonName VAR_033325
VAR_033325 disease not phenotype-associated
VAR_033326 commonName VAR_033326
VAR_033326 disease not phenotype-associated
VAR_033327 commonName VAR_033327
VAR_033327 disease not phenotype-associated
VAR_033328 commonName VAR_033328
VAR_033328 disease not phenotype-associated
VAR_033329 commonName VAR_033329
VAR_033329 disease not phenotype-associated
VAR_033330 commonName VAR_033330
VAR_033330 disease not phenotype-associated
VAR_033331 commonName VAR_033331
VAR_033331 disease not phenotype-associated
VAR_033332 commonName VAR_033332
VAR_033332 disease not phenotype-associated
VAR_033334 commonName VAR_033334
VAR_033334 disease not phenotype-associated
VAR_033335 commonName VAR_033335
VAR_033335 disease not phenotype-associated
VAR_033336 commonName VAR_033336
VAR_033336 disease not phenotype-associated
VAR_033337 commonName VAR_033337
VAR_033337 disease not phenotype-associated
VAR_033341 commonName VAR_033341
VAR_033341 disease not phenotype-associated
VAR_033342 commonName VAR_033342
VAR_033342 disease not phenotype-associated
VAR_033343 commonName VAR_033343
VAR_033343 disease not phenotype-associated
VAR_033344 commonName VAR_033344
VAR_033344 disease not phenotype-associated
VAR_033345 commonName VAR_033345
VAR_033345 disease not phenotype-associated
VAR_033346 commonName VAR_033346
VAR_033346 disease not phenotype-associated
VAR_033347 commonName VAR_033347
VAR_033347 disease not phenotype-associated
VAR_033348 commonName VAR_033348
VAR_033348 disease not phenotype-associated
VAR_033349 commonName VAR_033349
VAR_033349 disease not phenotype-associated
VAR_033353 commonName VAR_033353
VAR_033353 disease not phenotype-associated
VAR_033354 commonName VAR_033354
VAR_033354 disease not phenotype-associated
VAR_033355 commonName VAR_033355
VAR_033355 disease not phenotype-associated
VAR_033356 commonName VAR_033356
VAR_033356 disease not phenotype-associated
VAR_033357 commonName VAR_033357
VAR_033357 disease not phenotype-associated
VAR_033358 commonName VAR_033358
VAR_033358 disease not phenotype-associated
VAR_033359 commonName VAR_033359
VAR_033359 disease not phenotype-associated
VAR_033360 commonName VAR_033360
VAR_033360 disease not phenotype-associated
VAR_033361 commonName VAR_033361
VAR_033361 disease not phenotype-associated
VAR_033362 commonName VAR_033362
VAR_033362 disease not phenotype-associated
VAR_033363 commonName VAR_033363
VAR_033363 disease not phenotype-associated
VAR_033364 commonName VAR_033364
VAR_033364 disease not phenotype-associated
VAR_033365 commonName VAR_033365
VAR_033365 disease not phenotype-associated
VAR_033366 commonName VAR_033366
VAR_033366 disease not phenotype-associated
VAR_033367 commonName VAR_033367
VAR_033367 disease not phenotype-associated
VAR_033370 commonName VAR_033370
VAR_033370 disease phenotype-associated
VAR_033370 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_033371 commonName VAR_033371
VAR_033371 disease phenotype-associated
VAR_033371 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_033372 commonName VAR_033372
VAR_033372 disease not phenotype-associated
VAR_033373 commonName VAR_033373
VAR_033373 disease not phenotype-associated
VAR_033376 commonName VAR_033376
VAR_033376 disease not phenotype-associated
VAR_033449 commonName VAR_033449
VAR_033449 disease not phenotype-associated
VAR_033450 commonName VAR_033450
VAR_033450 disease not phenotype-associated
VAR_033451 commonName VAR_033451
VAR_033451 disease not phenotype-associated
VAR_033452 commonName VAR_033452
VAR_033452 disease not phenotype-associated
VAR_033453 commonName VAR_033453
VAR_033453 disease not phenotype-associated
VAR_033454 commonName VAR_033454
VAR_033454 disease not phenotype-associated
VAR_033455 commonName VAR_033455
VAR_033455 disease not phenotype-associated
VAR_033456 commonName VAR_033456
VAR_033456 disease not phenotype-associated
VAR_033457 commonName VAR_033457
VAR_033457 disease not phenotype-associated
VAR_033458 commonName VAR_033458
VAR_033458 disease not phenotype-associated
VAR_033460 commonName VAR_033460
VAR_033460 disease not phenotype-associated
VAR_033461 commonName VAR_033461
VAR_033461 disease not phenotype-associated
VAR_033462 commonName VAR_033462
VAR_033462 disease not phenotype-associated
VAR_033463 commonName VAR_033463
VAR_033463 disease not phenotype-associated
VAR_033464 commonName VAR_033464
VAR_033464 disease not phenotype-associated
VAR_033465 commonName VAR_033465
VAR_033465 disease not phenotype-associated
VAR_033466 commonName VAR_033466
VAR_033466 disease not phenotype-associated
VAR_033467 commonName VAR_033467
VAR_033467 disease not phenotype-associated
VAR_033468 commonName VAR_033468
VAR_033468 disease not phenotype-associated
VAR_033469 commonName VAR_033469
VAR_033469 disease not phenotype-associated
VAR_033470 commonName VAR_033470
VAR_033470 disease not phenotype-associated
VAR_033471 commonName VAR_033471
VAR_033471 disease not phenotype-associated
VAR_033472 commonName VAR_033472
VAR_033472 disease not phenotype-associated
VAR_033473 commonName VAR_033473
VAR_033473 disease not phenotype-associated
VAR_033474 commonName VAR_033474
VAR_033474 disease not phenotype-associated
VAR_033475 commonName VAR_033475
VAR_033475 disease not phenotype-associated
VAR_033476 commonName VAR_033476
VAR_033476 disease not phenotype-associated
VAR_033477 commonName VAR_033477
VAR_033477 disease not phenotype-associated
VAR_033478 commonName VAR_033478
VAR_033478 disease not phenotype-associated
VAR_033479 commonName VAR_033479
VAR_033479 disease not phenotype-associated
VAR_033480 commonName VAR_033480
VAR_033480 disease not phenotype-associated
VAR_033481 commonName VAR_033481
VAR_033481 disease not phenotype-associated
VAR_033482 commonName VAR_033482
VAR_033482 disease not phenotype-associated
VAR_033483 commonName VAR_033483
VAR_033483 disease not phenotype-associated
VAR_033484 commonName VAR_033484
VAR_033484 disease not phenotype-associated
VAR_033485 commonName VAR_033485
VAR_033485 disease not phenotype-associated
VAR_033486 commonName VAR_033486
VAR_033486 disease not phenotype-associated
VAR_033487 commonName VAR_033487
VAR_033487 disease not phenotype-associated
VAR_033489 commonName VAR_033489
VAR_033489 disease not phenotype-associated
VAR_033490 commonName VAR_033490
VAR_033490 disease not phenotype-associated
VAR_033491 commonName VAR_033491
VAR_033491 disease not phenotype-associated
VAR_033492 commonName VAR_033492
VAR_033492 disease not phenotype-associated
VAR_033494 commonName VAR_033494
VAR_033494 disease not phenotype-associated
VAR_033495 commonName VAR_033495
VAR_033495 disease not phenotype-associated
VAR_033496 commonName VAR_033496
VAR_033496 disease not phenotype-associated
VAR_033497 commonName VAR_033497
VAR_033497 disease not phenotype-associated
VAR_033498 commonName VAR_033498
VAR_033498 disease not phenotype-associated
VAR_033499 commonName VAR_033499
VAR_033499 disease not phenotype-associated
VAR_033500 commonName VAR_033500
VAR_033500 disease not phenotype-associated
VAR_033501 commonName VAR_033501
VAR_033501 disease not phenotype-associated
VAR_033503 commonName VAR_033503
VAR_033503 disease not phenotype-associated
VAR_033504 commonName VAR_033504
VAR_033504 disease not phenotype-associated
VAR_033505 commonName VAR_033505
VAR_033505 disease not phenotype-associated
VAR_033507 commonName VAR_033507
VAR_033507 disease not phenotype-associated
VAR_033508 commonName VAR_033508
VAR_033508 disease not phenotype-associated
VAR_033509 commonName VAR_033509
VAR_033509 disease not phenotype-associated
VAR_033512 commonName VAR_033512
VAR_033512 disease not phenotype-associated
VAR_033513 commonName VAR_033513
VAR_033513 disease not phenotype-associated
VAR_033515 commonName VAR_033515
VAR_033515 disease not phenotype-associated
VAR_033516 commonName VAR_033516
VAR_033516 disease not phenotype-associated
VAR_033517 commonName VAR_033517
VAR_033517 disease not phenotype-associated
VAR_033518 commonName VAR_033518
VAR_033518 disease not phenotype-associated
VAR_033519 commonName VAR_033519
VAR_033519 disease not phenotype-associated
VAR_033520 commonName VAR_033520
VAR_033520 disease not phenotype-associated
VAR_033521 commonName VAR_033521
VAR_033521 disease not phenotype-associated
VAR_033522 commonName VAR_033522
VAR_033522 disease not phenotype-associated
VAR_033523 commonName VAR_033523
VAR_033523 disease not phenotype-associated
VAR_033525 commonName VAR_033525
VAR_033525 disease not phenotype-associated
VAR_033526 commonName VAR_033526
VAR_033526 disease not phenotype-associated
VAR_033527 commonName VAR_033527
VAR_033527 disease not phenotype-associated
VAR_033528 commonName VAR_033528
VAR_033528 disease not phenotype-associated
VAR_033529 commonName VAR_033529
VAR_033529 disease not phenotype-associated
VAR_033530 commonName VAR_033530
VAR_033530 disease not phenotype-associated
VAR_033531 commonName VAR_033531
VAR_033531 disease not phenotype-associated
VAR_033532 commonName VAR_033532
VAR_033532 disease not phenotype-associated
VAR_033533 commonName VAR_033533
VAR_033533 disease not phenotype-associated
VAR_033534 commonName VAR_033534
VAR_033534 disease not phenotype-associated
VAR_033535 commonName VAR_033535
VAR_033535 disease not phenotype-associated
VAR_033536 commonName VAR_033536
VAR_033536 disease not phenotype-associated
VAR_033537 commonName VAR_033537
VAR_033537 disease not phenotype-associated
VAR_033538 commonName VAR_033538
VAR_033538 disease not phenotype-associated
VAR_033539 commonName VAR_033539
VAR_033539 disease not phenotype-associated
VAR_033542 commonName VAR_033542
VAR_033542 disease not phenotype-associated
VAR_033543 commonName VAR_033543
VAR_033543 disease not phenotype-associated
VAR_033544 commonName VAR_033544
VAR_033544 disease not phenotype-associated
VAR_033545 commonName VAR_033545
VAR_033545 disease not phenotype-associated
VAR_033546 commonName VAR_033546
VAR_033546 disease not phenotype-associated
VAR_033547 commonName VAR_033547
VAR_033547 disease not phenotype-associated
VAR_033549 commonName VAR_033549
VAR_033549 disease not phenotype-associated
VAR_033550 commonName VAR_033550
VAR_033550 disease not phenotype-associated
VAR_033551 commonName VAR_033551
VAR_033551 disease not phenotype-associated
VAR_033552 commonName VAR_033552
VAR_033552 disease not phenotype-associated
VAR_033553 commonName VAR_033553
VAR_033553 disease not phenotype-associated
VAR_033554 commonName VAR_033554
VAR_033554 disease not phenotype-associated
VAR_033555 commonName VAR_033555
VAR_033555 disease not phenotype-associated
VAR_033557 commonName VAR_033557
VAR_033557 disease not phenotype-associated
VAR_033558 commonName VAR_033558
VAR_033558 disease not phenotype-associated
VAR_033559 commonName VAR_033559
VAR_033559 disease not phenotype-associated
VAR_033560 commonName VAR_033560
VAR_033560 disease not phenotype-associated
VAR_033561 commonName VAR_033561
VAR_033561 disease not phenotype-associated
VAR_033562 commonName VAR_033562
VAR_033562 disease not phenotype-associated
VAR_033563 commonName VAR_033563
VAR_033563 disease not phenotype-associated
VAR_033564 commonName VAR_033564
VAR_033564 disease not phenotype-associated
VAR_033565 commonName VAR_033565
VAR_033565 disease not phenotype-associated
VAR_033566 commonName VAR_033566
VAR_033566 disease not phenotype-associated
VAR_033567 commonName VAR_033567
VAR_033567 disease not phenotype-associated
VAR_033568 commonName VAR_033568
VAR_033568 disease not phenotype-associated
VAR_033569 commonName VAR_033569
VAR_033569 disease not phenotype-associated
VAR_033570 commonName VAR_033570
VAR_033570 disease not phenotype-associated
VAR_033571 commonName VAR_033571
VAR_033571 disease not phenotype-associated
VAR_033572 commonName VAR_033572
VAR_033572 disease not phenotype-associated
VAR_033573 commonName VAR_033573
VAR_033573 disease not phenotype-associated
VAR_033574 commonName VAR_033574
VAR_033574 disease not phenotype-associated
VAR_033575 commonName VAR_033575
VAR_033575 disease not phenotype-associated
VAR_033576 commonName VAR_033576
VAR_033576 disease not phenotype-associated
VAR_033577 commonName VAR_033577
VAR_033577 disease not phenotype-associated
VAR_033578 commonName VAR_033578
VAR_033578 disease not phenotype-associated
VAR_033579 commonName VAR_033579
VAR_033579 disease not phenotype-associated
VAR_033580 commonName VAR_033580
VAR_033580 disease not phenotype-associated
VAR_033581 commonName VAR_033581
VAR_033581 disease not phenotype-associated
VAR_033582 commonName VAR_033582
VAR_033582 disease not phenotype-associated
VAR_033583 commonName VAR_033583
VAR_033583 disease not phenotype-associated
VAR_033584 commonName VAR_033584
VAR_033584 disease not phenotype-associated
VAR_033585 commonName VAR_033585
VAR_033585 disease not phenotype-associated
VAR_033586 commonName VAR_033586
VAR_033586 disease not phenotype-associated
VAR_033587 commonName VAR_033587
VAR_033587 disease not phenotype-associated
VAR_033588 commonName VAR_033588
VAR_033588 disease not phenotype-associated
VAR_033589 commonName VAR_033589
VAR_033589 disease not phenotype-associated
VAR_033590 commonName VAR_033590
VAR_033590 disease not phenotype-associated
VAR_033591 commonName VAR_033591
VAR_033591 disease not phenotype-associated
VAR_033592 commonName VAR_033592
VAR_033592 disease not phenotype-associated
VAR_033593 commonName VAR_033593
VAR_033593 disease not phenotype-associated
VAR_033594 commonName VAR_033594
VAR_033594 disease not phenotype-associated
VAR_033595 commonName VAR_033595
VAR_033595 disease not phenotype-associated
VAR_033596 commonName VAR_033596
VAR_033596 disease not phenotype-associated
VAR_033597 commonName VAR_033597
VAR_033597 disease not phenotype-associated
VAR_033598 commonName VAR_033598
VAR_033598 disease not phenotype-associated
VAR_033599 commonName VAR_033599
VAR_033599 disease not phenotype-associated
VAR_033608 commonName VAR_033608
VAR_033608 disease not phenotype-associated
VAR_033611 commonName VAR_033611
VAR_033611 disease not phenotype-associated
VAR_033613 commonName VAR_033613
VAR_033613 disease not phenotype-associated
VAR_033614 commonName VAR_033614
VAR_033614 disease not phenotype-associated
VAR_033615 commonName VAR_033615
VAR_033615 disease not phenotype-associated
VAR_033616 commonName VAR_033616
VAR_033616 disease not phenotype-associated
VAR_033617 commonName VAR_033617
VAR_033617 disease not phenotype-associated
VAR_033618 commonName VAR_033618
VAR_033618 disease not phenotype-associated
VAR_033620 commonName VAR_033620
VAR_033620 disease not phenotype-associated
VAR_033621 commonName VAR_033621
VAR_033621 disease not phenotype-associated
VAR_033622 commonName VAR_033622
VAR_033622 disease not phenotype-associated
VAR_033623 commonName VAR_033623
VAR_033623 disease not phenotype-associated
VAR_033624 commonName VAR_033624
VAR_033624 disease not phenotype-associated
VAR_033625 commonName VAR_033625
VAR_033625 disease not phenotype-associated
VAR_033626 commonName VAR_033626
VAR_033626 disease not phenotype-associated
VAR_033627 commonName VAR_033627
VAR_033627 disease not phenotype-associated
VAR_033630 commonName VAR_033630
VAR_033630 disease not phenotype-associated
VAR_033631 commonName VAR_033631
VAR_033631 disease not phenotype-associated
VAR_033632 commonName VAR_033632
VAR_033632 disease not phenotype-associated
VAR_033633 commonName VAR_033633
VAR_033633 disease not phenotype-associated
VAR_033634 commonName VAR_033634
VAR_033634 disease not phenotype-associated
VAR_033635 commonName VAR_033635
VAR_033635 disease not phenotype-associated
VAR_033636 commonName VAR_033636
VAR_033636 disease not phenotype-associated
VAR_033637 commonName VAR_033637
VAR_033637 disease not phenotype-associated
VAR_033638 commonName VAR_033638
VAR_033638 disease not phenotype-associated
VAR_033639 commonName VAR_033639
VAR_033639 disease not phenotype-associated
VAR_033640 commonName VAR_033640
VAR_033640 disease not phenotype-associated
VAR_033641 commonName VAR_033641
VAR_033641 disease not phenotype-associated
VAR_033642 commonName VAR_033642
VAR_033642 disease not phenotype-associated
VAR_033643 commonName VAR_033643
VAR_033643 disease not phenotype-associated
VAR_033644 commonName VAR_033644
VAR_033644 disease not phenotype-associated
VAR_033645 commonName VAR_033645
VAR_033645 disease not phenotype-associated
VAR_033646 commonName VAR_033646
VAR_033646 disease not phenotype-associated
VAR_033647 commonName VAR_033647
VAR_033647 disease not phenotype-associated
VAR_033648 commonName VAR_033648
VAR_033648 disease not phenotype-associated
VAR_033649 commonName VAR_033649
VAR_033649 disease not phenotype-associated
VAR_033650 commonName VAR_033650
VAR_033650 disease not phenotype-associated
VAR_033651 commonName VAR_033651
VAR_033651 disease not phenotype-associated
VAR_033652 commonName VAR_033652
VAR_033652 disease not phenotype-associated
VAR_033653 commonName VAR_033653
VAR_033653 disease not phenotype-associated
VAR_033654 commonName VAR_033654
VAR_033654 disease not phenotype-associated
VAR_033655 commonName VAR_033655
VAR_033655 disease not phenotype-associated
VAR_033656 commonName VAR_033656
VAR_033656 disease not phenotype-associated
VAR_033657 commonName VAR_033657
VAR_033657 disease not phenotype-associated
VAR_033658 commonName VAR_033658
VAR_033658 disease not phenotype-associated
VAR_033659 commonName VAR_033659
VAR_033659 disease not phenotype-associated
VAR_033660 commonName VAR_033660
VAR_033660 disease not phenotype-associated
VAR_033661 commonName VAR_033661
VAR_033661 disease not phenotype-associated
VAR_033662 commonName VAR_033662
VAR_033662 disease not phenotype-associated
VAR_033663 commonName VAR_033663
VAR_033663 disease not phenotype-associated
VAR_033664 commonName VAR_033664
VAR_033664 disease not phenotype-associated
VAR_033665 commonName VAR_033665
VAR_033665 disease not phenotype-associated
VAR_033666 commonName VAR_033666
VAR_033666 disease not phenotype-associated
VAR_033667 commonName VAR_033667
VAR_033667 disease not phenotype-associated
VAR_033668 commonName VAR_033668
VAR_033668 disease not phenotype-associated
VAR_033669 commonName VAR_033669
VAR_033669 disease not phenotype-associated
VAR_033670 commonName VAR_033670
VAR_033670 disease not phenotype-associated
VAR_033671 commonName VAR_033671
VAR_033671 disease not phenotype-associated
VAR_033672 commonName VAR_033672
VAR_033672 disease not phenotype-associated
VAR_033673 commonName VAR_033673
VAR_033673 disease not phenotype-associated
VAR_033674 commonName VAR_033674
VAR_033674 disease not phenotype-associated
VAR_033675 commonName VAR_033675
VAR_033675 disease not phenotype-associated
VAR_033676 commonName VAR_033676
VAR_033676 disease not phenotype-associated
VAR_033677 commonName VAR_033677
VAR_033677 disease not phenotype-associated
VAR_033678 commonName VAR_033678
VAR_033678 disease not phenotype-associated
VAR_033679 commonName VAR_033679
VAR_033679 disease not phenotype-associated
VAR_033680 commonName VAR_033680
VAR_033680 disease not phenotype-associated
VAR_033681 commonName VAR_033681
VAR_033681 disease not phenotype-associated
VAR_033683 commonName VAR_033683
VAR_033683 disease not phenotype-associated
VAR_033684 commonName VAR_033684
VAR_033684 disease not phenotype-associated
VAR_033685 commonName VAR_033685
VAR_033685 disease not phenotype-associated
VAR_033686 commonName VAR_033686
VAR_033686 disease not phenotype-associated
VAR_033687 commonName VAR_033687
VAR_033687 disease not phenotype-associated
VAR_033688 commonName VAR_033688
VAR_033688 disease not phenotype-associated
VAR_033689 commonName VAR_033689
VAR_033689 disease not phenotype-associated
VAR_033690 commonName VAR_033690
VAR_033690 disease not phenotype-associated
VAR_033691 commonName VAR_033691
VAR_033691 disease not phenotype-associated
VAR_033692 commonName VAR_033692
VAR_033692 disease not phenotype-associated
VAR_033693 commonName VAR_033693
VAR_033693 disease not phenotype-associated
VAR_033694 commonName VAR_033694
VAR_033694 disease not phenotype-associated
VAR_033695 commonName VAR_033695
VAR_033695 disease not phenotype-associated
VAR_033696 commonName VAR_033696
VAR_033696 disease not phenotype-associated
VAR_033697 commonName VAR_033697
VAR_033697 disease not phenotype-associated
VAR_033698 commonName VAR_033698
VAR_033698 disease not phenotype-associated
VAR_033699 commonName VAR_033699
VAR_033699 disease not phenotype-associated
VAR_033700 commonName VAR_033700
VAR_033700 disease not phenotype-associated
VAR_033703 commonName VAR_033703
VAR_033703 disease not phenotype-associated
VAR_033704 commonName VAR_033704
VAR_033704 disease not phenotype-associated
VAR_033705 commonName VAR_033705
VAR_033705 disease not phenotype-associated
VAR_033706 commonName VAR_033706
VAR_033706 disease not phenotype-associated
VAR_033707 commonName VAR_033707
VAR_033707 disease not phenotype-associated
VAR_033708 commonName VAR_033708
VAR_033708 disease not phenotype-associated
VAR_033709 commonName VAR_033709
VAR_033709 disease not phenotype-associated
VAR_033710 commonName VAR_033710
VAR_033710 disease not phenotype-associated
VAR_033711 commonName VAR_033711
VAR_033711 disease not phenotype-associated
VAR_033712 commonName VAR_033712
VAR_033712 disease not phenotype-associated
VAR_033713 commonName VAR_033713
VAR_033713 disease not phenotype-associated
VAR_033714 commonName VAR_033714
VAR_033714 disease not phenotype-associated
VAR_033715 commonName VAR_033715
VAR_033715 disease not phenotype-associated
VAR_033716 commonName VAR_033716
VAR_033716 disease not phenotype-associated
VAR_033717 commonName VAR_033717
VAR_033717 disease not phenotype-associated
VAR_033718 commonName VAR_033718
VAR_033718 disease not phenotype-associated
VAR_033721 commonName VAR_033721
VAR_033721 disease not phenotype-associated
VAR_033722 commonName VAR_033722
VAR_033722 disease not phenotype-associated
VAR_033723 commonName VAR_033723
VAR_033723 disease not phenotype-associated
VAR_033724 commonName VAR_033724
VAR_033724 disease not phenotype-associated
VAR_033725 commonName VAR_033725
VAR_033725 disease not phenotype-associated
VAR_033727 commonName VAR_033727
VAR_033727 disease not phenotype-associated
VAR_033728 commonName VAR_033728
VAR_033728 disease not phenotype-associated
VAR_033729 commonName VAR_033729
VAR_033729 disease not phenotype-associated
VAR_033731 commonName VAR_033731
VAR_033731 disease not phenotype-associated
VAR_033732 commonName VAR_033732
VAR_033732 disease not phenotype-associated
VAR_033733 commonName VAR_033733
VAR_033733 disease not phenotype-associated
VAR_033734 commonName VAR_033734
VAR_033734 disease not phenotype-associated
VAR_033735 commonName VAR_033735
VAR_033735 disease not phenotype-associated
VAR_033736 commonName VAR_033736
VAR_033736 disease not phenotype-associated
VAR_033737 commonName VAR_033737
VAR_033737 disease not phenotype-associated
VAR_033738 commonName VAR_033738
VAR_033738 disease not phenotype-associated
VAR_033739 commonName VAR_033739
VAR_033739 disease not phenotype-associated
VAR_033740 commonName VAR_033740
VAR_033740 disease not phenotype-associated
VAR_033742 commonName VAR_033742
VAR_033742 disease not phenotype-associated
VAR_033743 commonName VAR_033743
VAR_033743 disease not phenotype-associated
VAR_033744 commonName VAR_033744
VAR_033744 disease not phenotype-associated
VAR_033745 commonName VAR_033745
VAR_033745 disease not phenotype-associated
VAR_033746 commonName VAR_033746
VAR_033746 disease not phenotype-associated
VAR_033747 commonName VAR_033747
VAR_033747 disease not phenotype-associated
VAR_033748 commonName VAR_033748
VAR_033748 disease not phenotype-associated
VAR_033749 commonName VAR_033749
VAR_033749 disease not phenotype-associated
VAR_033750 commonName VAR_033750
VAR_033750 disease not phenotype-associated
VAR_033751 commonName VAR_033751
VAR_033751 disease not phenotype-associated
VAR_033752 commonName VAR_033752
VAR_033752 disease not phenotype-associated
VAR_033754 commonName VAR_033754
VAR_033754 disease not phenotype-associated
VAR_033755 commonName VAR_033755
VAR_033755 disease not phenotype-associated
VAR_033756 commonName VAR_033756
VAR_033756 disease not phenotype-associated
VAR_033757 commonName VAR_033757
VAR_033757 disease not phenotype-associated
VAR_033758 commonName VAR_033758
VAR_033758 disease not phenotype-associated
VAR_033759 commonName VAR_033759
VAR_033759 disease not phenotype-associated
VAR_033760 commonName VAR_033760
VAR_033760 disease not phenotype-associated
VAR_033761 commonName VAR_033761
VAR_033761 disease not phenotype-associated
VAR_033762 commonName VAR_033762
VAR_033762 disease not phenotype-associated
VAR_033763 commonName VAR_033763
VAR_033763 disease not phenotype-associated
VAR_033765 commonName VAR_033765
VAR_033765 disease not phenotype-associated
VAR_033766 commonName VAR_033766
VAR_033766 disease not phenotype-associated
VAR_033767 commonName VAR_033767
VAR_033767 disease not phenotype-associated
VAR_033768 commonName VAR_033768
VAR_033768 disease not phenotype-associated
VAR_033769 commonName VAR_033769
VAR_033769 disease not phenotype-associated
VAR_033770 commonName VAR_033770
VAR_033770 disease not phenotype-associated
VAR_033771 commonName VAR_033771
VAR_033771 disease not phenotype-associated
VAR_033772 commonName VAR_033772
VAR_033772 disease not phenotype-associated
VAR_033773 commonName VAR_033773
VAR_033773 disease not phenotype-associated
VAR_033774 commonName VAR_033774
VAR_033774 disease not phenotype-associated
VAR_033775 commonName VAR_033775
VAR_033775 disease not phenotype-associated
VAR_033776 commonName VAR_033776
VAR_033776 disease not phenotype-associated
VAR_033777 commonName VAR_033777
VAR_033777 disease not phenotype-associated
VAR_033778 commonName VAR_033778
VAR_033778 disease not phenotype-associated
VAR_033779 commonName VAR_033779
VAR_033779 disease not phenotype-associated
VAR_033780 commonName VAR_033780
VAR_033780 disease not phenotype-associated
VAR_033781 commonName VAR_033781
VAR_033781 disease not phenotype-associated
VAR_033782 commonName VAR_033782
VAR_033782 disease not phenotype-associated
VAR_033783 commonName VAR_033783
VAR_033783 disease not phenotype-associated
VAR_033784 commonName VAR_033784
VAR_033784 disease not phenotype-associated
VAR_033785 commonName VAR_033785
VAR_033785 disease not phenotype-associated
VAR_033786 commonName VAR_033786
VAR_033786 disease not phenotype-associated
VAR_033787 commonName VAR_033787
VAR_033787 disease not phenotype-associated
VAR_033788 commonName VAR_033788
VAR_033788 disease not phenotype-associated
VAR_033789 commonName VAR_033789
VAR_033789 disease not phenotype-associated
VAR_033790 commonName VAR_033790
VAR_033790 disease not phenotype-associated
VAR_033791 commonName VAR_033791
VAR_033791 disease not phenotype-associated
VAR_033792 commonName VAR_033792
VAR_033792 disease not phenotype-associated
VAR_033793 commonName VAR_033793
VAR_033793 disease not phenotype-associated
VAR_033794 commonName VAR_033794
VAR_033794 disease not phenotype-associated
VAR_033795 commonName VAR_033795
VAR_033795 disease not phenotype-associated
VAR_033796 commonName VAR_033796
VAR_033796 disease not phenotype-associated
VAR_033798 commonName VAR_033798
VAR_033798 disease not phenotype-associated
VAR_033799 commonName VAR_033799
VAR_033799 disease not phenotype-associated
VAR_033800 commonName VAR_033800
VAR_033800 disease not phenotype-associated
VAR_033801 commonName VAR_033801
VAR_033801 disease not phenotype-associated
VAR_033802 commonName VAR_033802
VAR_033802 disease not phenotype-associated
VAR_033803 commonName VAR_033803
VAR_033803 disease not phenotype-associated
VAR_033804 commonName VAR_033804
VAR_033804 disease not phenotype-associated
VAR_033805 commonName VAR_033805
VAR_033805 disease not phenotype-associated
VAR_033806 commonName VAR_033806
VAR_033806 disease not phenotype-associated
VAR_033807 commonName VAR_033807
VAR_033807 disease not phenotype-associated
VAR_033808 commonName VAR_033808
VAR_033808 disease not phenotype-associated
VAR_033809 commonName VAR_033809
VAR_033809 disease not phenotype-associated
VAR_033810 commonName VAR_033810
VAR_033810 disease not phenotype-associated
VAR_033811 commonName VAR_033811
VAR_033811 disease not phenotype-associated
VAR_033812 commonName VAR_033812
VAR_033812 disease not phenotype-associated
VAR_033813 commonName VAR_033813
VAR_033813 disease not phenotype-associated
VAR_033814 commonName VAR_033814
VAR_033814 disease not phenotype-associated
VAR_033815 commonName VAR_033815
VAR_033815 disease not phenotype-associated
VAR_033816 commonName VAR_033816
VAR_033816 disease not phenotype-associated
VAR_033817 commonName VAR_033817
VAR_033817 disease not phenotype-associated
VAR_033818 commonName VAR_033818
VAR_033818 disease not phenotype-associated
VAR_033819 commonName VAR_033819
VAR_033819 disease not phenotype-associated
VAR_033820 commonName VAR_033820
VAR_033820 disease not phenotype-associated
VAR_033821 commonName VAR_033821
VAR_033821 disease not phenotype-associated
VAR_033822 commonName VAR_033822
VAR_033822 disease not phenotype-associated
VAR_033823 commonName VAR_033823
VAR_033823 disease not phenotype-associated
VAR_033824 commonName VAR_033824
VAR_033824 disease not phenotype-associated
VAR_033825 commonName VAR_033825
VAR_033825 disease not phenotype-associated
VAR_033826 commonName VAR_033826
VAR_033826 disease not phenotype-associated
VAR_033832 commonName VAR_033832
VAR_033832 disease not phenotype-associated
VAR_033833 commonName VAR_033833
VAR_033833 disease not phenotype-associated
VAR_033834 commonName VAR_033834
VAR_033834 disease not phenotype-associated
VAR_033835 commonName VAR_033835
VAR_033835 disease not phenotype-associated
VAR_033836 commonName VAR_033836
VAR_033836 disease not phenotype-associated
VAR_033837 commonName VAR_033837
VAR_033837 disease not phenotype-associated
VAR_033838 commonName VAR_033838
VAR_033838 disease not phenotype-associated
VAR_033839 commonName VAR_033839
VAR_033839 disease not phenotype-associated
VAR_033840 commonName VAR_033840
VAR_033840 disease not phenotype-associated
VAR_033841 commonName VAR_033841
VAR_033841 disease not phenotype-associated
VAR_033842 commonName VAR_033842
VAR_033842 disease not phenotype-associated
VAR_033843 commonName VAR_033843
VAR_033843 disease not phenotype-associated
VAR_033844 commonName VAR_033844
VAR_033844 disease not phenotype-associated
VAR_033845 commonName VAR_033845
VAR_033845 disease not phenotype-associated
VAR_033847 commonName VAR_033847
VAR_033847 disease not phenotype-associated
VAR_033848 commonName VAR_033848
VAR_033848 disease not phenotype-associated
VAR_033850 commonName VAR_033850
VAR_033850 disease not phenotype-associated
VAR_033851 commonName VAR_033851
VAR_033851 disease not phenotype-associated
VAR_033852 commonName VAR_033852
VAR_033852 disease not phenotype-associated
VAR_033853 commonName VAR_033853
VAR_033853 disease not phenotype-associated
VAR_033854 commonName VAR_033854
VAR_033854 disease not phenotype-associated
VAR_033855 commonName VAR_033855
VAR_033855 disease not phenotype-associated
VAR_033856 commonName VAR_033856
VAR_033856 disease not phenotype-associated
VAR_033857 commonName VAR_033857
VAR_033857 disease not phenotype-associated
VAR_033858 commonName VAR_033858
VAR_033858 disease not phenotype-associated
VAR_033859 commonName VAR_033859
VAR_033859 disease not phenotype-associated
VAR_033860 commonName VAR_033860
VAR_033860 disease not phenotype-associated
VAR_033861 commonName VAR_033861
VAR_033861 disease not phenotype-associated
VAR_033862 commonName VAR_033862
VAR_033862 disease not phenotype-associated
VAR_033863 commonName VAR_033863
VAR_033863 disease not phenotype-associated
VAR_033864 commonName VAR_033864
VAR_033864 disease not phenotype-associated
VAR_033865 commonName VAR_033865
VAR_033865 disease not phenotype-associated
VAR_033866 commonName VAR_033866
VAR_033866 disease not phenotype-associated
VAR_033868 commonName VAR_033868
VAR_033868 disease not phenotype-associated
VAR_033869 commonName VAR_033869
VAR_033869 disease not phenotype-associated
VAR_033870 commonName VAR_033870
VAR_033870 disease not phenotype-associated
VAR_033871 commonName VAR_033871
VAR_033871 disease not phenotype-associated
VAR_033872 commonName VAR_033872
VAR_033872 disease not phenotype-associated
VAR_033873 commonName VAR_033873
VAR_033873 disease not phenotype-associated
VAR_033874 commonName VAR_033874
VAR_033874 disease not phenotype-associated
VAR_033875 commonName VAR_033875
VAR_033875 disease not phenotype-associated
VAR_033876 commonName VAR_033876
VAR_033876 disease not phenotype-associated
VAR_033877 commonName VAR_033877
VAR_033877 disease not phenotype-associated
VAR_033878 commonName VAR_033878
VAR_033878 disease not phenotype-associated
VAR_033879 commonName VAR_033879
VAR_033879 disease not phenotype-associated
VAR_033880 commonName VAR_033880
VAR_033880 disease not phenotype-associated
VAR_033881 commonName VAR_033881
VAR_033881 disease not phenotype-associated
VAR_033882 commonName VAR_033882
VAR_033882 disease not phenotype-associated
VAR_033883 commonName VAR_033883
VAR_033883 disease not phenotype-associated
VAR_033884 commonName VAR_033884
VAR_033884 disease not phenotype-associated
VAR_033885 commonName VAR_033885
VAR_033885 disease not phenotype-associated
VAR_033886 commonName VAR_033886
VAR_033886 disease not phenotype-associated
VAR_033888 commonName VAR_033888
VAR_033888 disease not phenotype-associated
VAR_033889 commonName VAR_033889
VAR_033889 disease not phenotype-associated
VAR_033890 commonName VAR_033890
VAR_033890 disease not phenotype-associated
VAR_033891 commonName VAR_033891
VAR_033891 disease not phenotype-associated
VAR_033892 commonName VAR_033892
VAR_033892 disease not phenotype-associated
VAR_033894 commonName VAR_033894
VAR_033894 disease not phenotype-associated
VAR_033895 commonName VAR_033895
VAR_033895 disease not phenotype-associated
VAR_033896 commonName VAR_033896
VAR_033896 disease not phenotype-associated
VAR_033897 commonName VAR_033897
VAR_033897 disease not phenotype-associated
VAR_033898 commonName VAR_033898
VAR_033898 disease not phenotype-associated
VAR_033899 commonName VAR_033899
VAR_033899 disease not phenotype-associated
VAR_033900 commonName VAR_033900
VAR_033900 disease not phenotype-associated
VAR_033901 commonName VAR_033901
VAR_033901 disease not phenotype-associated
VAR_033902 commonName VAR_033902
VAR_033902 disease not phenotype-associated
VAR_033903 commonName VAR_033903
VAR_033903 disease not phenotype-associated
VAR_033904 commonName VAR_033904
VAR_033904 disease not phenotype-associated
VAR_033906 commonName VAR_033906
VAR_033906 disease not phenotype-associated
VAR_033908 commonName VAR_033908
VAR_033908 disease not phenotype-associated
VAR_033909 commonName VAR_033909
VAR_033909 disease not phenotype-associated
VAR_033910 commonName VAR_033910
VAR_033910 disease not phenotype-associated
VAR_033913 commonName VAR_033913
VAR_033913 disease not phenotype-associated
VAR_033914 commonName VAR_033914
VAR_033914 disease not phenotype-associated
VAR_033915 commonName VAR_033915
VAR_033915 disease not phenotype-associated
VAR_033916 commonName VAR_033916
VAR_033916 disease not phenotype-associated
VAR_033917 commonName VAR_033917
VAR_033917 disease not phenotype-associated
VAR_033918 commonName VAR_033918
VAR_033918 disease not phenotype-associated
VAR_033920 commonName VAR_033920
VAR_033920 disease not phenotype-associated
VAR_033921 commonName VAR_033921
VAR_033921 disease not phenotype-associated
VAR_033922 commonName VAR_033922
VAR_033922 disease not phenotype-associated
VAR_033923 commonName VAR_033923
VAR_033923 disease not phenotype-associated
VAR_033924 commonName VAR_033924
VAR_033924 disease not phenotype-associated
VAR_033925 commonName VAR_033925
VAR_033925 disease not phenotype-associated
VAR_033926 commonName VAR_033926
VAR_033926 disease not phenotype-associated
VAR_033927 commonName VAR_033927
VAR_033927 disease not phenotype-associated
VAR_033928 commonName VAR_033928
VAR_033928 disease not phenotype-associated
VAR_033929 commonName VAR_033929
VAR_033929 disease not phenotype-associated
VAR_033930 commonName VAR_033930
VAR_033930 disease not phenotype-associated
VAR_033931 commonName VAR_033931
VAR_033931 disease not phenotype-associated
VAR_033932 commonName VAR_033932
VAR_033932 disease not phenotype-associated
VAR_033933 commonName VAR_033933
VAR_033933 disease not phenotype-associated
VAR_033934 commonName VAR_033934
VAR_033934 disease not phenotype-associated
VAR_033935 commonName VAR_033935
VAR_033935 disease not phenotype-associated
VAR_033936 commonName VAR_033936
VAR_033936 disease not phenotype-associated
VAR_033937 commonName VAR_033937
VAR_033937 disease not phenotype-associated
VAR_033938 commonName VAR_033938
VAR_033938 disease not phenotype-associated
VAR_033939 commonName VAR_033939
VAR_033939 disease not phenotype-associated
VAR_033940 commonName VAR_033940
VAR_033940 disease not phenotype-associated
VAR_033941 commonName VAR_033941
VAR_033941 disease not phenotype-associated
VAR_033942 commonName VAR_033942
VAR_033942 disease not phenotype-associated
VAR_033943 commonName VAR_033943
VAR_033943 disease not phenotype-associated
VAR_033944 commonName VAR_033944
VAR_033944 disease not phenotype-associated
VAR_033945 commonName VAR_033945
VAR_033945 disease not phenotype-associated
VAR_033946 commonName VAR_033946
VAR_033946 disease not phenotype-associated
VAR_033947 commonName VAR_033947
VAR_033947 disease not phenotype-associated
VAR_033948 commonName VAR_033948
VAR_033948 disease not phenotype-associated
VAR_033949 commonName VAR_033949
VAR_033949 disease not phenotype-associated
VAR_033950 commonName VAR_033950
VAR_033950 disease not phenotype-associated
VAR_033951 commonName VAR_033951
VAR_033951 disease not phenotype-associated
VAR_033952 commonName VAR_033952
VAR_033952 disease not phenotype-associated
VAR_033953 commonName VAR_033953
VAR_033953 disease not phenotype-associated
VAR_033954 commonName VAR_033954
VAR_033954 disease not phenotype-associated
VAR_033955 commonName VAR_033955
VAR_033955 disease not phenotype-associated
VAR_033956 commonName VAR_033956
VAR_033956 disease not phenotype-associated
VAR_033958 commonName VAR_033958
VAR_033958 disease not phenotype-associated
VAR_033959 commonName VAR_033959
VAR_033959 disease not phenotype-associated
VAR_033960 commonName VAR_033960
VAR_033960 disease not phenotype-associated
VAR_033961 commonName VAR_033961
VAR_033961 disease not phenotype-associated
VAR_033962 commonName VAR_033962
VAR_033962 disease not phenotype-associated
VAR_033963 commonName VAR_033963
VAR_033963 disease not phenotype-associated
VAR_033964 commonName VAR_033964
VAR_033964 disease not phenotype-associated
VAR_033965 commonName VAR_033965
VAR_033965 disease not phenotype-associated
VAR_033966 commonName VAR_033966
VAR_033966 disease not phenotype-associated
VAR_033967 commonName VAR_033967
VAR_033967 disease not phenotype-associated
VAR_033968 commonName VAR_033968
VAR_033968 disease not phenotype-associated
VAR_033969 commonName VAR_033969
VAR_033969 disease not phenotype-associated
VAR_033970 commonName VAR_033970
VAR_033970 disease not phenotype-associated
VAR_033971 commonName VAR_033971
VAR_033971 disease not phenotype-associated
VAR_033972 commonName VAR_033972
VAR_033972 disease not phenotype-associated
VAR_033973 commonName VAR_033973
VAR_033973 disease not phenotype-associated
VAR_033974 commonName VAR_033974
VAR_033974 disease not phenotype-associated
VAR_033975 commonName VAR_033975
VAR_033975 disease not phenotype-associated
VAR_033977 commonName VAR_033977
VAR_033977 disease not phenotype-associated
VAR_033978 commonName VAR_033978
VAR_033978 disease not phenotype-associated
VAR_033979 commonName VAR_033979
VAR_033979 disease not phenotype-associated
VAR_033982 commonName VAR_033982
VAR_033982 disease not phenotype-associated
VAR_033983 commonName VAR_033983
VAR_033983 disease not phenotype-associated
VAR_033984 commonName VAR_033984
VAR_033984 disease not phenotype-associated
VAR_033985 commonName VAR_033985
VAR_033985 disease not phenotype-associated
VAR_033986 commonName VAR_033986
VAR_033986 disease not phenotype-associated
VAR_033987 commonName VAR_033987
VAR_033987 disease not phenotype-associated
VAR_033989 commonName VAR_033989
VAR_033989 disease not phenotype-associated
VAR_033990 commonName VAR_033990
VAR_033990 disease not phenotype-associated
VAR_033991 commonName VAR_033991
VAR_033991 disease not phenotype-associated
VAR_033992 commonName VAR_033992
VAR_033992 disease not phenotype-associated
VAR_033993 commonName VAR_033993
VAR_033993 disease not phenotype-associated
VAR_033994 commonName VAR_033994
VAR_033994 disease not phenotype-associated
VAR_033995 commonName VAR_033995
VAR_033995 disease not phenotype-associated
VAR_033996 commonName VAR_033996
VAR_033996 disease not phenotype-associated
VAR_033998 commonName VAR_033998
VAR_033998 disease not phenotype-associated
VAR_033999 commonName VAR_033999
VAR_033999 disease not phenotype-associated
VAR_034000 commonName VAR_034000
VAR_034000 disease not phenotype-associated
VAR_034001 commonName VAR_034001
VAR_034001 disease not phenotype-associated
VAR_034002 commonName VAR_034002
VAR_034002 disease not phenotype-associated
VAR_034004 commonName VAR_034004
VAR_034004 disease not phenotype-associated
VAR_034005 commonName VAR_034005
VAR_034005 disease not phenotype-associated
VAR_034006 commonName VAR_034006
VAR_034006 disease not phenotype-associated
VAR_034007 commonName VAR_034007
VAR_034007 disease not phenotype-associated
VAR_034008 commonName VAR_034008
VAR_034008 disease not phenotype-associated
VAR_034009 commonName VAR_034009
VAR_034009 disease not phenotype-associated
VAR_034010 commonName VAR_034010
VAR_034010 disease not phenotype-associated
VAR_034012 commonName VAR_034012
VAR_034012 disease not phenotype-associated
VAR_034013 commonName VAR_034013
VAR_034013 disease not phenotype-associated
VAR_034014 commonName VAR_034014
VAR_034014 disease not phenotype-associated
VAR_034015 commonName VAR_034015
VAR_034015 disease not phenotype-associated
VAR_034016 commonName VAR_034016
VAR_034016 disease not phenotype-associated
VAR_034018 commonName VAR_034018
VAR_034018 disease not phenotype-associated
VAR_034019 commonName VAR_034019
VAR_034019 disease not phenotype-associated
VAR_034020 commonName VAR_034020
VAR_034020 disease not phenotype-associated
VAR_034021 commonName VAR_034021
VAR_034021 disease not phenotype-associated
VAR_034022 commonName VAR_034022
VAR_034022 disease not phenotype-associated
VAR_034025 commonName VAR_034025
VAR_034025 disease not phenotype-associated
VAR_034026 commonName VAR_034026
VAR_034026 disease not phenotype-associated
VAR_034027 commonName VAR_034027
VAR_034027 disease not phenotype-associated
VAR_034028 commonName VAR_034028
VAR_034028 disease not phenotype-associated
VAR_034029 commonName VAR_034029
VAR_034029 disease not phenotype-associated
VAR_034030 commonName VAR_034030
VAR_034030 disease not phenotype-associated
VAR_034031 commonName VAR_034031
VAR_034031 disease not phenotype-associated
VAR_034032 commonName VAR_034032
VAR_034032 disease not phenotype-associated
VAR_034033 commonName VAR_034033
VAR_034033 disease not phenotype-associated
VAR_034034 commonName VAR_034034
VAR_034034 disease not phenotype-associated
VAR_034035 commonName VAR_034035
VAR_034035 disease not phenotype-associated
VAR_034036 commonName VAR_034036
VAR_034036 disease not phenotype-associated
VAR_034037 commonName VAR_034037
VAR_034037 disease not phenotype-associated
VAR_034038 commonName VAR_034038
VAR_034038 disease not phenotype-associated
VAR_034039 commonName VAR_034039
VAR_034039 disease not phenotype-associated
VAR_034040 commonName VAR_034040
VAR_034040 disease not phenotype-associated
VAR_034041 commonName VAR_034041
VAR_034041 disease not phenotype-associated
VAR_034042 commonName VAR_034042
VAR_034042 disease not phenotype-associated
VAR_034043 commonName VAR_034043
VAR_034043 disease not phenotype-associated
VAR_034044 commonName VAR_034044
VAR_034044 disease not phenotype-associated
VAR_034046 commonName VAR_034046
VAR_034046 disease not phenotype-associated
VAR_034047 commonName VAR_034047
VAR_034047 disease not phenotype-associated
VAR_034048 commonName VAR_034048
VAR_034048 disease not phenotype-associated
VAR_034049 commonName VAR_034049
VAR_034049 disease not phenotype-associated
VAR_034050 commonName VAR_034050
VAR_034050 disease not phenotype-associated
VAR_034051 commonName VAR_034051
VAR_034051 disease not phenotype-associated
VAR_034052 commonName VAR_034052
VAR_034052 disease not phenotype-associated
VAR_034053 commonName VAR_034053
VAR_034053 disease not phenotype-associated
VAR_034054 commonName VAR_034054
VAR_034054 disease not phenotype-associated
VAR_034055 commonName VAR_034055
VAR_034055 disease not phenotype-associated
VAR_034056 commonName VAR_034056
VAR_034056 disease not phenotype-associated
VAR_034057 commonName VAR_034057
VAR_034057 disease not phenotype-associated
VAR_034060 commonName VAR_034060
VAR_034060 disease not phenotype-associated
VAR_034061 commonName VAR_034061
VAR_034061 disease not phenotype-associated
VAR_034062 commonName VAR_034062
VAR_034062 disease not phenotype-associated
VAR_034063 commonName VAR_034063
VAR_034063 disease not phenotype-associated
VAR_034064 commonName VAR_034064
VAR_034064 disease not phenotype-associated
VAR_034065 commonName VAR_034065
VAR_034065 disease not phenotype-associated
VAR_034066 commonName VAR_034066
VAR_034066 disease not phenotype-associated
VAR_034069 commonName VAR_034069
VAR_034069 disease not phenotype-associated
VAR_034070 commonName VAR_034070
VAR_034070 disease not phenotype-associated
VAR_034071 commonName VAR_034071
VAR_034071 disease not phenotype-associated
VAR_034072 commonName VAR_034072
VAR_034072 disease not phenotype-associated
VAR_034073 commonName VAR_034073
VAR_034073 disease not phenotype-associated
VAR_034074 commonName VAR_034074
VAR_034074 disease not phenotype-associated
VAR_034075 commonName VAR_034075
VAR_034075 disease not phenotype-associated
VAR_034076 commonName VAR_034076
VAR_034076 disease not phenotype-associated
VAR_034077 commonName VAR_034077
VAR_034077 disease not phenotype-associated
VAR_034078 commonName VAR_034078
VAR_034078 disease not phenotype-associated
VAR_034079 commonName VAR_034079
VAR_034079 disease not phenotype-associated
VAR_034080 commonName VAR_034080
VAR_034080 disease not phenotype-associated
VAR_034081 commonName VAR_034081
VAR_034081 disease not phenotype-associated
VAR_034082 commonName VAR_034082
VAR_034082 disease not phenotype-associated
VAR_034083 commonName VAR_034083
VAR_034083 disease not phenotype-associated
VAR_034084 commonName VAR_034084
VAR_034084 disease not phenotype-associated
VAR_034085 commonName VAR_034085
VAR_034085 disease not phenotype-associated
VAR_034087 commonName VAR_034087
VAR_034087 disease not phenotype-associated
VAR_034088 commonName VAR_034088
VAR_034088 disease not phenotype-associated
VAR_034089 commonName VAR_034089
VAR_034089 disease not phenotype-associated
VAR_034090 commonName VAR_034090
VAR_034090 disease not phenotype-associated
VAR_034091 commonName VAR_034091
VAR_034091 disease not phenotype-associated
VAR_034092 commonName VAR_034092
VAR_034092 disease not phenotype-associated
VAR_034093 commonName VAR_034093
VAR_034093 disease not phenotype-associated
VAR_034094 commonName VAR_034094
VAR_034094 disease not phenotype-associated
VAR_034095 commonName VAR_034095
VAR_034095 disease not phenotype-associated
VAR_034097 commonName VAR_034097
VAR_034097 disease not phenotype-associated
VAR_034098 commonName VAR_034098
VAR_034098 disease not phenotype-associated
VAR_034099 commonName VAR_034099
VAR_034099 disease not phenotype-associated
VAR_034100 commonName VAR_034100
VAR_034100 disease not phenotype-associated
VAR_034101 commonName VAR_034101
VAR_034101 disease not phenotype-associated
VAR_034102 commonName VAR_034102
VAR_034102 disease not phenotype-associated
VAR_034103 commonName VAR_034103
VAR_034103 disease not phenotype-associated
VAR_034104 commonName VAR_034104
VAR_034104 disease not phenotype-associated
VAR_034105 commonName VAR_034105
VAR_034105 disease not phenotype-associated
VAR_034106 commonName VAR_034106
VAR_034106 disease not phenotype-associated
VAR_034107 commonName VAR_034107
VAR_034107 disease not phenotype-associated
VAR_034109 commonName VAR_034109
VAR_034109 disease not phenotype-associated
VAR_034110 commonName VAR_034110
VAR_034110 disease not phenotype-associated
VAR_034111 commonName VAR_034111
VAR_034111 disease not phenotype-associated
VAR_034112 commonName VAR_034112
VAR_034112 disease not phenotype-associated
VAR_034113 commonName VAR_034113
VAR_034113 disease not phenotype-associated
VAR_034114 commonName VAR_034114
VAR_034114 disease not phenotype-associated
VAR_034116 commonName VAR_034116
VAR_034116 disease not phenotype-associated
VAR_034117 commonName VAR_034117
VAR_034117 disease not phenotype-associated
VAR_034118 commonName VAR_034118
VAR_034118 disease not phenotype-associated
VAR_034119 commonName VAR_034119
VAR_034119 disease not phenotype-associated
VAR_034120 commonName VAR_034120
VAR_034120 disease not phenotype-associated
VAR_034121 commonName VAR_034121
VAR_034121 disease not phenotype-associated
VAR_034122 commonName VAR_034122
VAR_034122 disease not phenotype-associated
VAR_034123 commonName VAR_034123
VAR_034123 disease not phenotype-associated
VAR_034125 commonName VAR_034125
VAR_034125 disease not phenotype-associated
VAR_034126 commonName VAR_034126
VAR_034126 disease not phenotype-associated
VAR_034127 commonName VAR_034127
VAR_034127 disease not phenotype-associated
VAR_034128 commonName VAR_034128
VAR_034128 disease not phenotype-associated
VAR_034129 commonName VAR_034129
VAR_034129 disease not phenotype-associated
VAR_034130 commonName VAR_034130
VAR_034130 disease not phenotype-associated
VAR_034131 commonName VAR_034131
VAR_034131 disease not phenotype-associated
VAR_034132 commonName VAR_034132
VAR_034132 disease not phenotype-associated
VAR_034133 commonName VAR_034133
VAR_034133 disease not phenotype-associated
VAR_034134 commonName VAR_034134
VAR_034134 disease not phenotype-associated
VAR_034135 commonName VAR_034135
VAR_034135 disease not phenotype-associated
VAR_034136 commonName VAR_034136
VAR_034136 disease not phenotype-associated
VAR_034137 commonName VAR_034137
VAR_034137 disease not phenotype-associated
VAR_034138 commonName VAR_034138
VAR_034138 disease not phenotype-associated
VAR_034139 commonName VAR_034139
VAR_034139 disease not phenotype-associated
VAR_034140 commonName VAR_034140
VAR_034140 disease not phenotype-associated
VAR_034141 commonName VAR_034141
VAR_034141 disease not phenotype-associated
VAR_034142 commonName VAR_034142
VAR_034142 disease not phenotype-associated
VAR_034143 commonName VAR_034143
VAR_034143 disease not phenotype-associated
VAR_034144 commonName VAR_034144
VAR_034144 disease not phenotype-associated
VAR_034145 commonName VAR_034145
VAR_034145 disease not phenotype-associated
VAR_034146 commonName VAR_034146
VAR_034146 disease not phenotype-associated
VAR_034147 commonName VAR_034147
VAR_034147 disease not phenotype-associated
VAR_034148 commonName VAR_034148
VAR_034148 disease not phenotype-associated
VAR_034149 commonName VAR_034149
VAR_034149 disease not phenotype-associated
VAR_034150 commonName VAR_034150
VAR_034150 disease not phenotype-associated
VAR_034151 commonName VAR_034151
VAR_034151 disease not phenotype-associated
VAR_034152 commonName VAR_034152
VAR_034152 disease not phenotype-associated
VAR_034153 commonName VAR_034153
VAR_034153 disease not phenotype-associated
VAR_034154 commonName VAR_034154
VAR_034154 disease not phenotype-associated
VAR_034155 commonName VAR_034155
VAR_034155 disease not phenotype-associated
VAR_034156 commonName VAR_034156
VAR_034156 disease not phenotype-associated
VAR_034157 commonName VAR_034157
VAR_034157 disease not phenotype-associated
VAR_034158 commonName VAR_034158
VAR_034158 disease not phenotype-associated
VAR_034159 commonName VAR_034159
VAR_034159 disease not phenotype-associated
VAR_034160 commonName VAR_034160
VAR_034160 disease not phenotype-associated
VAR_034161 commonName VAR_034161
VAR_034161 disease not phenotype-associated
VAR_034162 commonName VAR_034162
VAR_034162 disease not phenotype-associated
VAR_034163 commonName VAR_034163
VAR_034163 disease not phenotype-associated
VAR_034164 commonName VAR_034164
VAR_034164 disease not phenotype-associated
VAR_034165 commonName VAR_034165
VAR_034165 disease not phenotype-associated
VAR_034166 commonName VAR_034166
VAR_034166 disease not phenotype-associated
VAR_034167 commonName VAR_034167
VAR_034167 disease not phenotype-associated
VAR_034168 commonName VAR_034168
VAR_034168 disease not phenotype-associated
VAR_034169 commonName VAR_034169
VAR_034169 disease not phenotype-associated
VAR_034170 commonName VAR_034170
VAR_034170 disease not phenotype-associated
VAR_034171 commonName VAR_034171
VAR_034171 disease not phenotype-associated
VAR_034172 commonName VAR_034172
VAR_034172 disease not phenotype-associated
VAR_034173 commonName VAR_034173
VAR_034173 disease not phenotype-associated
VAR_034174 commonName VAR_034174
VAR_034174 disease not phenotype-associated
VAR_034175 commonName VAR_034175
VAR_034175 disease not phenotype-associated
VAR_034176 commonName VAR_034176
VAR_034176 disease not phenotype-associated
VAR_034177 commonName VAR_034177
VAR_034177 disease not phenotype-associated
VAR_034178 commonName VAR_034178
VAR_034178 disease not phenotype-associated
VAR_034179 commonName VAR_034179
VAR_034179 disease not phenotype-associated
VAR_034180 commonName VAR_034180
VAR_034180 disease not phenotype-associated
VAR_034181 commonName VAR_034181
VAR_034181 disease not phenotype-associated
VAR_034182 commonName VAR_034182
VAR_034182 disease not phenotype-associated
VAR_034183 commonName VAR_034183
VAR_034183 disease not phenotype-associated
VAR_034184 commonName VAR_034184
VAR_034184 disease not phenotype-associated
VAR_034185 commonName VAR_034185
VAR_034185 disease not phenotype-associated
VAR_034186 commonName VAR_034186
VAR_034186 disease not phenotype-associated
VAR_034187 commonName VAR_034187
VAR_034187 disease not phenotype-associated
VAR_034188 commonName VAR_034188
VAR_034188 disease not phenotype-associated
VAR_034189 commonName VAR_034189
VAR_034189 disease not phenotype-associated
VAR_034190 commonName VAR_034190
VAR_034190 disease not phenotype-associated
VAR_034191 commonName VAR_034191
VAR_034191 disease not phenotype-associated
VAR_034192 commonName VAR_034192
VAR_034192 disease not phenotype-associated
VAR_034193 commonName VAR_034193
VAR_034193 disease not phenotype-associated
VAR_034194 commonName VAR_034194
VAR_034194 disease not phenotype-associated
VAR_034195 commonName VAR_034195
VAR_034195 disease not phenotype-associated
VAR_034196 commonName VAR_034196
VAR_034196 disease not phenotype-associated
VAR_034197 commonName VAR_034197
VAR_034197 disease not phenotype-associated
VAR_034198 commonName VAR_034198
VAR_034198 disease not phenotype-associated
VAR_034199 commonName VAR_034199
VAR_034199 disease not phenotype-associated
VAR_034200 commonName VAR_034200
VAR_034200 disease not phenotype-associated
VAR_034201 commonName VAR_034201
VAR_034201 disease not phenotype-associated
VAR_034202 commonName VAR_034202
VAR_034202 disease not phenotype-associated
VAR_034203 commonName VAR_034203
VAR_034203 disease not phenotype-associated
VAR_034204 commonName VAR_034204
VAR_034204 disease not phenotype-associated
VAR_034205 commonName VAR_034205
VAR_034205 disease not phenotype-associated
VAR_034206 commonName VAR_034206
VAR_034206 disease not phenotype-associated
VAR_034207 commonName VAR_034207
VAR_034207 disease not phenotype-associated
VAR_034208 commonName VAR_034208
VAR_034208 disease not phenotype-associated
VAR_034209 commonName VAR_034209
VAR_034209 disease not phenotype-associated
VAR_034210 commonName VAR_034210
VAR_034210 disease not phenotype-associated
VAR_034211 commonName VAR_034211
VAR_034211 disease not phenotype-associated
VAR_034212 commonName VAR_034212
VAR_034212 disease not phenotype-associated
VAR_034213 commonName VAR_034213
VAR_034213 disease not phenotype-associated
VAR_034214 commonName VAR_034214
VAR_034214 disease not phenotype-associated
VAR_034215 commonName VAR_034215
VAR_034215 disease not phenotype-associated
VAR_034216 commonName VAR_034216
VAR_034216 disease not phenotype-associated
VAR_034217 commonName VAR_034217
VAR_034217 disease not phenotype-associated
VAR_034218 commonName VAR_034218
VAR_034218 disease not phenotype-associated
VAR_034219 commonName VAR_034219
VAR_034219 disease not phenotype-associated
VAR_034220 commonName VAR_034220
VAR_034220 disease not phenotype-associated
VAR_034221 commonName VAR_034221
VAR_034221 disease not phenotype-associated
VAR_034222 commonName VAR_034222
VAR_034222 disease not phenotype-associated
VAR_034223 commonName VAR_034223
VAR_034223 disease not phenotype-associated
VAR_034224 commonName VAR_034224
VAR_034224 disease not phenotype-associated
VAR_034225 commonName VAR_034225
VAR_034225 disease not phenotype-associated
VAR_034226 commonName VAR_034226
VAR_034226 disease not phenotype-associated
VAR_034227 commonName VAR_034227
VAR_034227 disease not phenotype-associated
VAR_034228 commonName VAR_034228
VAR_034228 disease not phenotype-associated
VAR_034229 commonName VAR_034229
VAR_034229 disease not phenotype-associated
VAR_034230 commonName VAR_034230
VAR_034230 disease not phenotype-associated
VAR_034231 commonName VAR_034231
VAR_034231 disease not phenotype-associated
VAR_034232 commonName VAR_034232
VAR_034232 disease not phenotype-associated
VAR_034233 commonName VAR_034233
VAR_034233 disease not phenotype-associated
VAR_034236 commonName VAR_034236
VAR_034236 disease not phenotype-associated
VAR_034237 commonName VAR_034237
VAR_034237 disease not phenotype-associated
VAR_034238 commonName VAR_034238
VAR_034238 disease not phenotype-associated
VAR_034239 commonName VAR_034239
VAR_034239 disease not phenotype-associated
VAR_034240 commonName VAR_034240
VAR_034240 disease not phenotype-associated
VAR_034241 commonName VAR_034241
VAR_034241 disease not phenotype-associated
VAR_034242 commonName VAR_034242
VAR_034242 disease not phenotype-associated
VAR_034243 commonName VAR_034243
VAR_034243 disease not phenotype-associated
VAR_034244 commonName VAR_034244
VAR_034244 disease not phenotype-associated
VAR_034245 commonName VAR_034245
VAR_034245 disease not phenotype-associated
VAR_034246 commonName VAR_034246
VAR_034246 disease not phenotype-associated
VAR_034247 commonName VAR_034247
VAR_034247 disease not phenotype-associated
VAR_034248 commonName VAR_034248
VAR_034248 disease not phenotype-associated
VAR_034249 commonName VAR_034249
VAR_034249 disease not phenotype-associated
VAR_034250 commonName VAR_034250
VAR_034250 disease not phenotype-associated
VAR_034251 commonName VAR_034251
VAR_034251 disease not phenotype-associated
VAR_034252 commonName VAR_034252
VAR_034252 disease not phenotype-associated
VAR_034253 commonName VAR_034253
VAR_034253 disease not phenotype-associated
VAR_034254 commonName VAR_034254
VAR_034254 disease not phenotype-associated
VAR_034255 commonName VAR_034255
VAR_034255 disease not phenotype-associated
VAR_034256 commonName VAR_034256
VAR_034256 disease not phenotype-associated
VAR_034257 commonName VAR_034257
VAR_034257 disease not phenotype-associated
VAR_034258 commonName VAR_034258
VAR_034258 disease not phenotype-associated
VAR_034259 commonName VAR_034259
VAR_034259 disease not phenotype-associated
VAR_034260 commonName VAR_034260
VAR_034260 disease not phenotype-associated
VAR_034261 commonName VAR_034261
VAR_034261 disease not phenotype-associated
VAR_034262 commonName VAR_034262
VAR_034262 disease not phenotype-associated
VAR_034263 commonName VAR_034263
VAR_034263 disease not phenotype-associated
VAR_034264 commonName VAR_034264
VAR_034264 disease not phenotype-associated
VAR_034265 commonName VAR_034265
VAR_034265 disease not phenotype-associated
VAR_034266 commonName VAR_034266
VAR_034266 disease not phenotype-associated
VAR_034267 commonName VAR_034267
VAR_034267 disease not phenotype-associated
VAR_034268 commonName VAR_034268
VAR_034268 disease not phenotype-associated
VAR_034269 commonName VAR_034269
VAR_034269 disease not phenotype-associated
VAR_034270 commonName VAR_034270
VAR_034270 disease not phenotype-associated
VAR_034271 commonName VAR_034271
VAR_034271 disease not phenotype-associated
VAR_034272 commonName VAR_034272
VAR_034272 disease not phenotype-associated
VAR_034273 commonName VAR_034273
VAR_034273 disease not phenotype-associated
VAR_034274 commonName VAR_034274
VAR_034274 disease not phenotype-associated
VAR_034275 commonName VAR_034275
VAR_034275 disease not phenotype-associated
VAR_034277 commonName VAR_034277
VAR_034277 disease not phenotype-associated
VAR_034278 commonName VAR_034278
VAR_034278 disease not phenotype-associated
VAR_034279 commonName VAR_034279
VAR_034279 disease not phenotype-associated
VAR_034280 commonName VAR_034280
VAR_034280 disease not phenotype-associated
VAR_034281 commonName VAR_034281
VAR_034281 disease not phenotype-associated
VAR_034282 commonName VAR_034282
VAR_034282 disease not phenotype-associated
VAR_034283 commonName VAR_034283
VAR_034283 disease not phenotype-associated
VAR_034284 commonName VAR_034284
VAR_034284 disease not phenotype-associated
VAR_034285 commonName VAR_034285
VAR_034285 disease not phenotype-associated
VAR_034286 commonName VAR_034286
VAR_034286 disease not phenotype-associated
VAR_034287 commonName VAR_034287
VAR_034287 disease not phenotype-associated
VAR_034288 commonName VAR_034288
VAR_034288 disease not phenotype-associated
VAR_034289 commonName VAR_034289
VAR_034289 disease not phenotype-associated
VAR_034290 commonName VAR_034290
VAR_034290 disease not phenotype-associated
VAR_034291 commonName VAR_034291
VAR_034291 disease not phenotype-associated
VAR_034292 commonName VAR_034292
VAR_034292 disease not phenotype-associated
VAR_034293 commonName VAR_034293
VAR_034293 disease not phenotype-associated
VAR_034294 commonName VAR_034294
VAR_034294 disease not phenotype-associated
VAR_034295 commonName VAR_034295
VAR_034295 disease not phenotype-associated
VAR_034296 commonName VAR_034296
VAR_034296 disease not phenotype-associated
VAR_034297 commonName VAR_034297
VAR_034297 disease not phenotype-associated
VAR_034298 commonName VAR_034298
VAR_034298 disease not phenotype-associated
VAR_034299 commonName VAR_034299
VAR_034299 disease not phenotype-associated
VAR_034300 commonName VAR_034300
VAR_034300 disease not phenotype-associated
VAR_034301 commonName VAR_034301
VAR_034301 disease not phenotype-associated
VAR_034302 commonName VAR_034302
VAR_034302 disease not phenotype-associated
VAR_034303 commonName VAR_034303
VAR_034303 disease not phenotype-associated
VAR_034304 commonName VAR_034304
VAR_034304 disease not phenotype-associated
VAR_034305 commonName VAR_034305
VAR_034305 disease not phenotype-associated
VAR_034306 commonName VAR_034306
VAR_034306 disease not phenotype-associated
VAR_034307 commonName VAR_034307
VAR_034307 disease not phenotype-associated
VAR_034308 commonName VAR_034308
VAR_034308 disease not phenotype-associated
VAR_034309 commonName VAR_034309
VAR_034309 disease not phenotype-associated
VAR_034310 commonName VAR_034310
VAR_034310 disease not phenotype-associated
VAR_034311 commonName VAR_034311
VAR_034311 disease not phenotype-associated
VAR_034312 commonName VAR_034312
VAR_034312 disease not phenotype-associated
VAR_034313 commonName VAR_034313
VAR_034313 disease not phenotype-associated
VAR_034314 commonName VAR_034314
VAR_034314 disease not phenotype-associated
VAR_034315 commonName VAR_034315
VAR_034315 disease not phenotype-associated
VAR_034316 commonName VAR_034316
VAR_034316 disease not phenotype-associated
VAR_034317 commonName VAR_034317
VAR_034317 disease not phenotype-associated
VAR_034318 commonName VAR_034318
VAR_034318 disease not phenotype-associated
VAR_034319 commonName VAR_034319
VAR_034319 disease not phenotype-associated
VAR_034320 commonName VAR_034320
VAR_034320 disease not phenotype-associated
VAR_034321 commonName VAR_034321
VAR_034321 disease not phenotype-associated
VAR_034322 commonName VAR_034322
VAR_034322 disease not phenotype-associated
VAR_034323 commonName VAR_034323
VAR_034323 disease not phenotype-associated
VAR_034324 commonName VAR_034324
VAR_034324 disease not phenotype-associated
VAR_034325 commonName VAR_034325
VAR_034325 disease not phenotype-associated
VAR_034326 commonName VAR_034326
VAR_034326 disease not phenotype-associated
VAR_034327 commonName VAR_034327
VAR_034327 disease not phenotype-associated
VAR_034328 commonName VAR_034328
VAR_034328 disease not phenotype-associated
VAR_034329 commonName VAR_034329
VAR_034329 disease not phenotype-associated
VAR_034330 commonName VAR_034330
VAR_034330 disease not phenotype-associated
VAR_034331 commonName VAR_034331
VAR_034331 disease not phenotype-associated
VAR_034332 commonName VAR_034332
VAR_034332 disease not phenotype-associated
VAR_034333 commonName VAR_034333
VAR_034333 disease not phenotype-associated
VAR_034334 commonName VAR_034334
VAR_034334 disease not phenotype-associated
VAR_034335 commonName VAR_034335
VAR_034335 disease not phenotype-associated
VAR_034336 commonName VAR_034336
VAR_034336 disease not phenotype-associated
VAR_034337 commonName VAR_034337
VAR_034337 disease not phenotype-associated
VAR_034342 commonName VAR_034342
VAR_034342 disease not phenotype-associated
VAR_034343 commonName VAR_034343
VAR_034343 disease not phenotype-associated
VAR_034344 commonName VAR_034344
VAR_034344 disease not phenotype-associated
VAR_034345 commonName VAR_034345
VAR_034345 disease not phenotype-associated
VAR_034346 commonName VAR_034346
VAR_034346 disease not phenotype-associated
VAR_034347 commonName VAR_034347
VAR_034347 disease not phenotype-associated
VAR_034348 commonName VAR_034348
VAR_034348 disease not phenotype-associated
VAR_034349 commonName VAR_034349
VAR_034349 disease not phenotype-associated
VAR_034350 commonName VAR_034350
VAR_034350 disease not phenotype-associated
VAR_034351 commonName VAR_034351
VAR_034351 disease not phenotype-associated
VAR_034352 commonName VAR_034352
VAR_034352 disease not phenotype-associated
VAR_034353 commonName VAR_034353
VAR_034353 disease not phenotype-associated
VAR_034354 commonName VAR_034354
VAR_034354 disease not phenotype-associated
VAR_034356 commonName VAR_034356
VAR_034356 disease not phenotype-associated
VAR_034357 commonName VAR_034357
VAR_034357 disease not phenotype-associated
VAR_034358 commonName VAR_034358
VAR_034358 disease not phenotype-associated
VAR_034359 commonName VAR_034359
VAR_034359 disease not phenotype-associated
VAR_034360 commonName VAR_034360
VAR_034360 disease not phenotype-associated
VAR_034361 commonName VAR_034361
VAR_034361 disease not phenotype-associated
VAR_034362 commonName VAR_034362
VAR_034362 disease not phenotype-associated
VAR_034363 commonName VAR_034363
VAR_034363 disease not phenotype-associated
VAR_034364 commonName VAR_034364
VAR_034364 disease not phenotype-associated
VAR_034365 commonName VAR_034365
VAR_034365 disease not phenotype-associated
VAR_034366 commonName VAR_034366
VAR_034366 disease not phenotype-associated
VAR_034367 commonName VAR_034367
VAR_034367 disease not phenotype-associated
VAR_034368 commonName VAR_034368
VAR_034368 disease not phenotype-associated
VAR_034369 commonName VAR_034369
VAR_034369 disease not phenotype-associated
VAR_034371 commonName VAR_034371
VAR_034371 disease not phenotype-associated
VAR_034372 commonName VAR_034372
VAR_034372 disease not phenotype-associated
VAR_034374 commonName VAR_034374
VAR_034374 disease not phenotype-associated
VAR_034375 commonName VAR_034375
VAR_034375 disease not phenotype-associated
VAR_034376 commonName VAR_034376
VAR_034376 disease not phenotype-associated
VAR_034377 commonName VAR_034377
VAR_034377 disease not phenotype-associated
VAR_034378 commonName VAR_034378
VAR_034378 disease not phenotype-associated
VAR_034379 commonName VAR_034379
VAR_034379 disease not phenotype-associated
VAR_034381 commonName VAR_034381
VAR_034381 disease not phenotype-associated
VAR_034383 commonName VAR_034383
VAR_034383 disease not phenotype-associated
VAR_034384 commonName VAR_034384
VAR_034384 disease not phenotype-associated
VAR_034385 commonName VAR_034385
VAR_034385 disease not phenotype-associated
VAR_034386 commonName VAR_034386
VAR_034386 disease not phenotype-associated
VAR_034387 commonName VAR_034387
VAR_034387 disease not phenotype-associated
VAR_034388 commonName VAR_034388
VAR_034388 disease not phenotype-associated
VAR_034389 commonName VAR_034389
VAR_034389 disease not phenotype-associated
VAR_034390 commonName VAR_034390
VAR_034390 disease not phenotype-associated
VAR_034391 commonName VAR_034391
VAR_034391 disease not phenotype-associated
VAR_034392 commonName VAR_034392
VAR_034392 disease not phenotype-associated
VAR_034394 commonName VAR_034394
VAR_034394 disease not phenotype-associated
VAR_034395 commonName VAR_034395
VAR_034395 disease not phenotype-associated
VAR_034396 commonName VAR_034396
VAR_034396 disease not phenotype-associated
VAR_034397 commonName VAR_034397
VAR_034397 disease not phenotype-associated
VAR_034398 commonName VAR_034398
VAR_034398 disease not phenotype-associated
VAR_034399 commonName VAR_034399
VAR_034399 disease not phenotype-associated
VAR_034400 commonName VAR_034400
VAR_034400 disease not phenotype-associated
VAR_034401 commonName VAR_034401
VAR_034401 disease not phenotype-associated
VAR_034402 commonName VAR_034402
VAR_034402 disease not phenotype-associated
VAR_034403 commonName VAR_034403
VAR_034403 disease not phenotype-associated
VAR_034404 commonName VAR_034404
VAR_034404 disease not phenotype-associated
VAR_034405 commonName VAR_034405
VAR_034405 disease not phenotype-associated
VAR_034406 commonName VAR_034406
VAR_034406 disease not phenotype-associated
VAR_034407 commonName VAR_034407
VAR_034407 disease not phenotype-associated
VAR_034408 commonName VAR_034408
VAR_034408 disease not phenotype-associated
VAR_034409 commonName VAR_034409
VAR_034409 disease not phenotype-associated
VAR_034410 commonName VAR_034410
VAR_034410 disease not phenotype-associated
VAR_034411 commonName VAR_034411
VAR_034411 disease not phenotype-associated
VAR_034412 commonName VAR_034412
VAR_034412 disease not phenotype-associated
VAR_034413 commonName VAR_034413
VAR_034413 disease not phenotype-associated
VAR_034414 commonName VAR_034414
VAR_034414 disease not phenotype-associated
VAR_034415 commonName VAR_034415
VAR_034415 disease not phenotype-associated
VAR_034416 commonName VAR_034416
VAR_034416 disease not phenotype-associated
VAR_034417 commonName VAR_034417
VAR_034417 disease not phenotype-associated
VAR_034418 commonName VAR_034418
VAR_034418 disease not phenotype-associated
VAR_034419 commonName VAR_034419
VAR_034419 disease not phenotype-associated
VAR_034420 commonName VAR_034420
VAR_034420 disease not phenotype-associated
VAR_034422 commonName VAR_034422
VAR_034422 disease not phenotype-associated
VAR_034424 commonName VAR_034424
VAR_034424 disease not phenotype-associated
VAR_034425 commonName VAR_034425
VAR_034425 disease not phenotype-associated
VAR_034426 commonName VAR_034426
VAR_034426 disease not phenotype-associated
VAR_034427 commonName VAR_034427
VAR_034427 disease not phenotype-associated
VAR_034428 commonName VAR_034428
VAR_034428 disease not phenotype-associated
VAR_034429 commonName VAR_034429
VAR_034429 disease not phenotype-associated
VAR_034430 commonName VAR_034430
VAR_034430 disease not phenotype-associated
VAR_034431 commonName VAR_034431
VAR_034431 disease not phenotype-associated
VAR_034432 commonName VAR_034432
VAR_034432 disease not phenotype-associated
VAR_034433 commonName VAR_034433
VAR_034433 disease not phenotype-associated
VAR_034434 commonName VAR_034434
VAR_034434 disease not phenotype-associated
VAR_034435 commonName VAR_034435
VAR_034435 disease not phenotype-associated
VAR_034436 commonName VAR_034436
VAR_034436 disease not phenotype-associated
VAR_034437 commonName VAR_034437
VAR_034437 disease not phenotype-associated
VAR_034438 commonName VAR_034438
VAR_034438 disease not phenotype-associated
VAR_034439 commonName VAR_034439
VAR_034439 disease not phenotype-associated
VAR_034440 commonName VAR_034440
VAR_034440 disease not phenotype-associated
VAR_034441 commonName VAR_034441
VAR_034441 disease not phenotype-associated
VAR_034442 commonName VAR_034442
VAR_034442 disease not phenotype-associated
VAR_034443 commonName VAR_034443
VAR_034443 disease not phenotype-associated
VAR_034444 commonName VAR_034444
VAR_034444 disease not phenotype-associated
VAR_034445 commonName VAR_034445
VAR_034445 disease not phenotype-associated
VAR_034446 commonName VAR_034446
VAR_034446 disease not phenotype-associated
VAR_034447 commonName VAR_034447
VAR_034447 disease not phenotype-associated
VAR_034448 commonName VAR_034448
VAR_034448 disease not phenotype-associated
VAR_034449 commonName VAR_034449
VAR_034449 disease not phenotype-associated
VAR_034450 commonName VAR_034450
VAR_034450 disease not phenotype-associated
VAR_034451 commonName VAR_034451
VAR_034451 disease not phenotype-associated
VAR_034452 commonName VAR_034452
VAR_034452 disease not phenotype-associated
VAR_034453 commonName VAR_034453
VAR_034453 disease not phenotype-associated
VAR_034454 commonName VAR_034454
VAR_034454 disease not phenotype-associated
VAR_034455 commonName VAR_034455
VAR_034455 disease not phenotype-associated
VAR_034456 commonName VAR_034456
VAR_034456 disease not phenotype-associated
VAR_034457 commonName VAR_034457
VAR_034457 disease not phenotype-associated
VAR_034459 commonName VAR_034459
VAR_034459 disease not phenotype-associated
VAR_034460 commonName VAR_034460
VAR_034460 disease not phenotype-associated
VAR_034461 commonName VAR_034461
VAR_034461 disease not phenotype-associated
VAR_034462 commonName VAR_034462
VAR_034462 disease not phenotype-associated
VAR_034463 commonName VAR_034463
VAR_034463 disease not phenotype-associated
VAR_034464 commonName VAR_034464
VAR_034464 disease not phenotype-associated
VAR_034465 commonName VAR_034465
VAR_034465 disease not phenotype-associated
VAR_034466 commonName VAR_034466
VAR_034466 disease not phenotype-associated
VAR_034467 commonName VAR_034467
VAR_034467 disease not phenotype-associated
VAR_034468 commonName VAR_034468
VAR_034468 disease not phenotype-associated
VAR_034469 commonName VAR_034469
VAR_034469 disease not phenotype-associated
VAR_034470 commonName VAR_034470
VAR_034470 disease not phenotype-associated
VAR_034471 commonName VAR_034471
VAR_034471 disease not phenotype-associated
VAR_034472 commonName VAR_034472
VAR_034472 disease not phenotype-associated
VAR_034473 commonName VAR_034473
VAR_034473 disease not phenotype-associated
VAR_034474 commonName VAR_034474
VAR_034474 disease not phenotype-associated
VAR_034475 commonName VAR_034475
VAR_034475 disease not phenotype-associated
VAR_034476 commonName VAR_034476
VAR_034476 disease not phenotype-associated
VAR_034477 commonName VAR_034477
VAR_034477 disease phenotype-associated
VAR_034477 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_034479 commonName VAR_034479
VAR_034479 disease not phenotype-associated
VAR_034480 commonName VAR_034480
VAR_034480 disease not phenotype-associated
VAR_034481 commonName VAR_034481
VAR_034481 disease not phenotype-associated
VAR_034482 commonName VAR_034482
VAR_034482 disease not phenotype-associated
VAR_034483 commonName VAR_034483
VAR_034483 disease not phenotype-associated
VAR_034484 commonName VAR_034484
VAR_034484 disease not phenotype-associated
VAR_034485 commonName VAR_034485
VAR_034485 disease not phenotype-associated
VAR_034486 commonName VAR_034486
VAR_034486 disease not phenotype-associated
VAR_034487 commonName VAR_034487
VAR_034487 disease not phenotype-associated
VAR_034488 commonName VAR_034488
VAR_034488 disease not phenotype-associated
VAR_034489 commonName VAR_034489
VAR_034489 disease not phenotype-associated
VAR_034490 commonName VAR_034490
VAR_034490 disease not phenotype-associated
VAR_034491 commonName VAR_034491
VAR_034491 disease not phenotype-associated
VAR_034492 commonName VAR_034492
VAR_034492 disease not phenotype-associated
VAR_034493 commonName VAR_034493
VAR_034493 disease not phenotype-associated
VAR_034494 commonName VAR_034494
VAR_034494 disease not phenotype-associated
VAR_034495 commonName VAR_034495
VAR_034495 disease not phenotype-associated
VAR_034496 commonName VAR_034496
VAR_034496 disease not phenotype-associated
VAR_034497 commonName VAR_034497
VAR_034497 disease not phenotype-associated
VAR_034498 commonName VAR_034498
VAR_034498 disease not phenotype-associated
VAR_034499 commonName VAR_034499
VAR_034499 disease not phenotype-associated
VAR_034500 commonName VAR_034500
VAR_034500 disease not phenotype-associated
VAR_034501 commonName VAR_034501
VAR_034501 disease not phenotype-associated
VAR_034502 commonName VAR_034502
VAR_034502 disease not phenotype-associated
VAR_034503 commonName VAR_034503
VAR_034503 disease not phenotype-associated
VAR_034504 commonName VAR_034504
VAR_034504 disease not phenotype-associated
VAR_034505 commonName VAR_034505
VAR_034505 disease not phenotype-associated
VAR_034506 commonName VAR_034506
VAR_034506 disease not phenotype-associated
VAR_034507 commonName VAR_034507
VAR_034507 disease not phenotype-associated
VAR_034508 commonName VAR_034508
VAR_034508 disease not phenotype-associated
VAR_034509 commonName VAR_034509
VAR_034509 disease not phenotype-associated
VAR_034510 commonName VAR_034510
VAR_034510 disease not phenotype-associated
VAR_034511 commonName VAR_034511
VAR_034511 disease not phenotype-associated
VAR_034512 commonName VAR_034512
VAR_034512 disease not phenotype-associated
VAR_034513 commonName VAR_034513
VAR_034513 disease not phenotype-associated
VAR_034514 commonName VAR_034514
VAR_034514 disease not phenotype-associated
VAR_034515 commonName VAR_034515
VAR_034515 disease not phenotype-associated
VAR_034517 commonName VAR_034517
VAR_034517 disease not phenotype-associated
VAR_034518 commonName VAR_034518
VAR_034518 disease not phenotype-associated
VAR_034519 commonName VAR_034519
VAR_034519 disease not phenotype-associated
VAR_034520 commonName VAR_034520
VAR_034520 disease not phenotype-associated
VAR_034521 commonName VAR_034521
VAR_034521 disease not phenotype-associated
VAR_034522 commonName VAR_034522
VAR_034522 disease not phenotype-associated
VAR_034523 commonName VAR_034523
VAR_034523 disease not phenotype-associated
VAR_034524 commonName VAR_034524
VAR_034524 disease not phenotype-associated
VAR_034525 commonName VAR_034525
VAR_034525 disease not phenotype-associated
VAR_034526 commonName VAR_034526
VAR_034526 disease not phenotype-associated
VAR_034527 commonName VAR_034527
VAR_034527 disease not phenotype-associated
VAR_034528 commonName VAR_034528
VAR_034528 disease not phenotype-associated
VAR_034532 commonName VAR_034532
VAR_034532 disease not phenotype-associated
VAR_034533 commonName VAR_034533
VAR_034533 disease not phenotype-associated
VAR_034534 commonName VAR_034534
VAR_034534 disease not phenotype-associated
VAR_034535 commonName VAR_034535
VAR_034535 disease not phenotype-associated
VAR_034536 commonName VAR_034536
VAR_034536 disease not phenotype-associated
VAR_034537 commonName VAR_034537
VAR_034537 disease not phenotype-associated
VAR_034538 commonName VAR_034538
VAR_034538 disease not phenotype-associated
VAR_034539 commonName VAR_034539
VAR_034539 disease not phenotype-associated
VAR_034540 commonName VAR_034540
VAR_034540 disease not phenotype-associated
VAR_034541 commonName VAR_034541
VAR_034541 disease not phenotype-associated
VAR_034542 commonName VAR_034542
VAR_034542 disease not phenotype-associated
VAR_034543 commonName VAR_034543
VAR_034543 disease not phenotype-associated
VAR_034544 commonName VAR_034544
VAR_034544 disease not phenotype-associated
VAR_034545 commonName VAR_034545
VAR_034545 disease phenotype-associated
VAR_034545 phenoCommon DiGeorge syndrome (DGS) [MIM:188400]
VAR_034546 commonName VAR_034546
VAR_034546 disease not phenotype-associated
VAR_034547 commonName VAR_034547
VAR_034547 disease not phenotype-associated
VAR_034548 commonName VAR_034548
VAR_034548 disease not phenotype-associated
VAR_034549 commonName VAR_034549
VAR_034549 disease not phenotype-associated
VAR_034550 commonName VAR_034550
VAR_034550 disease not phenotype-associated
VAR_034551 commonName VAR_034551
VAR_034551 disease not phenotype-associated
VAR_034552 commonName VAR_034552
VAR_034552 disease not phenotype-associated
VAR_034553 commonName VAR_034553
VAR_034553 disease not phenotype-associated
VAR_034554 commonName VAR_034554
VAR_034554 disease not phenotype-associated
VAR_034555 commonName VAR_034555
VAR_034555 disease not phenotype-associated
VAR_034556 commonName VAR_034556
VAR_034556 disease not phenotype-associated
VAR_034558 commonName VAR_034558
VAR_034558 disease not phenotype-associated
VAR_034559 commonName VAR_034559
VAR_034559 disease not phenotype-associated
VAR_034560 commonName VAR_034560
VAR_034560 disease not phenotype-associated
VAR_034561 commonName VAR_034561
VAR_034561 disease not phenotype-associated
VAR_034562 commonName VAR_034562
VAR_034562 disease phenotype-associated
VAR_034562 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034564 commonName VAR_034564
VAR_034564 disease not phenotype-associated
VAR_034565 commonName VAR_034565
VAR_034565 disease not phenotype-associated
VAR_034566 commonName VAR_034566
VAR_034566 disease not phenotype-associated
VAR_034567 commonName VAR_034567
VAR_034567 disease not phenotype-associated
VAR_034568 commonName VAR_034568
VAR_034568 disease not phenotype-associated
VAR_034569 commonName VAR_034569
VAR_034569 disease not phenotype-associated
VAR_034570 commonName VAR_034570
VAR_034570 disease not phenotype-associated
VAR_034571 commonName VAR_034571
VAR_034571 disease not phenotype-associated
VAR_034572 commonName VAR_034572
VAR_034572 disease not phenotype-associated
VAR_034573 commonName VAR_034573
VAR_034573 disease not phenotype-associated
VAR_034574 commonName VAR_034574
VAR_034574 disease not phenotype-associated
VAR_034575 commonName VAR_034575
VAR_034575 disease not phenotype-associated
VAR_034576 commonName VAR_034576
VAR_034576 disease not phenotype-associated
VAR_034577 commonName VAR_034577
VAR_034577 disease not phenotype-associated
VAR_034578 commonName VAR_034578
VAR_034578 disease not phenotype-associated
VAR_034579 commonName VAR_034579
VAR_034579 disease not phenotype-associated
VAR_034580 commonName VAR_034580
VAR_034580 disease not phenotype-associated
VAR_034581 commonName VAR_034581
VAR_034581 disease not phenotype-associated
VAR_034582 commonName VAR_034582
VAR_034582 disease not phenotype-associated
VAR_034584 commonName VAR_034584
VAR_034584 disease not phenotype-associated
VAR_034586 commonName VAR_034586
VAR_034586 disease not phenotype-associated
VAR_034587 commonName VAR_034587
VAR_034587 disease not phenotype-associated
VAR_034588 commonName VAR_034588
VAR_034588 disease not phenotype-associated
VAR_034589 commonName VAR_034589
VAR_034589 disease not phenotype-associated
VAR_034590 commonName VAR_034590
VAR_034590 disease not phenotype-associated
VAR_034591 commonName VAR_034591
VAR_034591 disease not phenotype-associated
VAR_034592 commonName VAR_034592
VAR_034592 disease not phenotype-associated
VAR_034593 commonName VAR_034593
VAR_034593 disease not phenotype-associated
VAR_034594 commonName VAR_034594
VAR_034594 disease not phenotype-associated
VAR_034595 commonName VAR_034595
VAR_034595 disease not phenotype-associated
VAR_034596 commonName VAR_034596
VAR_034596 disease not phenotype-associated
VAR_034597 commonName VAR_034597
VAR_034597 disease not phenotype-associated
VAR_034598 commonName VAR_034598
VAR_034598 disease not phenotype-associated
VAR_034599 commonName VAR_034599
VAR_034599 disease not phenotype-associated
VAR_034602 commonName VAR_034602
VAR_034602 disease not phenotype-associated
VAR_034603 commonName VAR_034603
VAR_034603 disease not phenotype-associated
VAR_034604 commonName VAR_034604
VAR_034604 disease not phenotype-associated
VAR_034605 commonName VAR_034605
VAR_034605 disease not phenotype-associated
VAR_034606 commonName VAR_034606
VAR_034606 disease not phenotype-associated
VAR_034607 commonName VAR_034607
VAR_034607 disease not phenotype-associated
VAR_034608 commonName VAR_034608
VAR_034608 disease not phenotype-associated
VAR_034609 commonName VAR_034609
HbVar.680 commonName Hb A2-Pelendri
VAR_034609 disease not phenotype-associated
VAR_034610 commonName VAR_034610
VAR_034610 disease not phenotype-associated
VAR_034611 commonName VAR_034611
VAR_034611 disease not phenotype-associated
VAR_034614 commonName VAR_034614
VAR_034614 disease not phenotype-associated
VAR_034615 commonName VAR_034615
VAR_034615 disease not phenotype-associated
VAR_034618 commonName VAR_034618
VAR_034618 disease not phenotype-associated
VAR_034619 commonName VAR_034619
VAR_034619 disease not phenotype-associated
VAR_034620 commonName VAR_034620
VAR_034620 disease not phenotype-associated
VAR_034621 commonName VAR_034621
VAR_034621 disease not phenotype-associated
VAR_034622 commonName VAR_034622
VAR_034622 disease not phenotype-associated
VAR_034623 commonName VAR_034623
VAR_034623 disease not phenotype-associated
VAR_034624 commonName VAR_034624
VAR_034624 disease not phenotype-associated
VAR_034625 commonName VAR_034625
VAR_034625 disease not phenotype-associated
VAR_034626 commonName VAR_034626
VAR_034626 disease not phenotype-associated
VAR_034627 commonName VAR_034627
VAR_034627 disease not phenotype-associated
VAR_034628 commonName VAR_034628
VAR_034628 disease not phenotype-associated
VAR_034629 commonName VAR_034629
VAR_034629 disease not phenotype-associated
VAR_034631 commonName VAR_034631
VAR_034631 disease not phenotype-associated
VAR_034632 commonName VAR_034632
VAR_034632 disease not phenotype-associated
VAR_034633 commonName VAR_034633
VAR_034633 disease not phenotype-associated
VAR_034634 commonName VAR_034634
VAR_034634 disease not phenotype-associated
VAR_034635 commonName VAR_034635
VAR_034635 disease not phenotype-associated
VAR_034636 commonName VAR_034636
VAR_034636 disease not phenotype-associated
VAR_034637 commonName VAR_034637
VAR_034637 disease not phenotype-associated
VAR_034638 commonName VAR_034638
VAR_034638 disease not phenotype-associated
VAR_034639 commonName VAR_034639
VAR_034639 disease not phenotype-associated
VAR_034640 commonName VAR_034640
VAR_034640 disease not phenotype-associated
VAR_034641 commonName VAR_034641
VAR_034641 disease not phenotype-associated
VAR_034642 commonName VAR_034642
VAR_034642 disease not phenotype-associated
VAR_034643 commonName VAR_034643
VAR_034643 disease not phenotype-associated
VAR_034644 commonName VAR_034644
VAR_034644 disease not phenotype-associated
VAR_034645 commonName VAR_034645
VAR_034645 disease not phenotype-associated
VAR_034647 commonName VAR_034647
VAR_034647 disease not phenotype-associated
VAR_034648 commonName VAR_034648
VAR_034648 disease not phenotype-associated
VAR_034651 commonName VAR_034651
VAR_034651 disease not phenotype-associated
VAR_034652 commonName VAR_034652
VAR_034652 disease not phenotype-associated
VAR_034653 commonName VAR_034653
VAR_034653 disease not phenotype-associated
VAR_034654 commonName VAR_034654
VAR_034654 disease not phenotype-associated
VAR_034655 commonName VAR_034655
VAR_034655 disease not phenotype-associated
VAR_034656 commonName VAR_034656
VAR_034656 disease not phenotype-associated
VAR_034657 commonName VAR_034657
VAR_034657 disease not phenotype-associated
VAR_034658 commonName VAR_034658
VAR_034658 disease not phenotype-associated
VAR_034659 commonName VAR_034659
VAR_034659 disease not phenotype-associated
VAR_034660 commonName VAR_034660
VAR_034660 disease not phenotype-associated
VAR_034661 commonName VAR_034661
VAR_034661 disease not phenotype-associated
VAR_034662 commonName VAR_034662
VAR_034662 disease not phenotype-associated
VAR_034663 commonName VAR_034663
VAR_034663 disease not phenotype-associated
VAR_034664 commonName VAR_034664
VAR_034664 disease not phenotype-associated
VAR_034665 commonName VAR_034665
VAR_034665 disease not phenotype-associated
VAR_034666 commonName VAR_034666
VAR_034666 disease not phenotype-associated
VAR_034667 commonName VAR_034667
VAR_034667 disease not phenotype-associated
VAR_034668 commonName VAR_034668
VAR_034668 disease not phenotype-associated
VAR_034669 commonName VAR_034669
VAR_034669 disease not phenotype-associated
VAR_034670 commonName VAR_034670
VAR_034670 disease not phenotype-associated
VAR_034671 commonName VAR_034671
VAR_034671 disease not phenotype-associated
VAR_034672 commonName VAR_034672
VAR_034672 disease not phenotype-associated
VAR_034673 commonName VAR_034673
VAR_034673 disease not phenotype-associated
VAR_034674 commonName VAR_034674
VAR_034674 disease not phenotype-associated
VAR_034675 commonName VAR_034675
VAR_034675 disease not phenotype-associated
VAR_034676 commonName VAR_034676
VAR_034676 disease not phenotype-associated
VAR_034677 commonName VAR_034677
VAR_034677 disease not phenotype-associated
VAR_034678 commonName VAR_034678
VAR_034678 disease not phenotype-associated
VAR_034679 commonName VAR_034679
VAR_034679 disease not phenotype-associated
VAR_034680 commonName VAR_034680
VAR_034680 disease not phenotype-associated
VAR_034681 commonName VAR_034681
VAR_034681 disease not phenotype-associated
VAR_034682 commonName VAR_034682
VAR_034682 disease not phenotype-associated
VAR_034683 commonName VAR_034683
VAR_034683 disease not phenotype-associated
VAR_034684 commonName VAR_034684
VAR_034684 disease not phenotype-associated
VAR_034685 commonName VAR_034685
VAR_034685 disease not phenotype-associated
VAR_034686 commonName VAR_034686
VAR_034686 disease not phenotype-associated
VAR_034687 commonName VAR_034687
VAR_034687 disease not phenotype-associated
VAR_034688 commonName VAR_034688
VAR_034688 disease not phenotype-associated
VAR_034690 commonName VAR_034690
VAR_034690 disease not phenotype-associated
VAR_034691 commonName VAR_034691
VAR_034691 disease not phenotype-associated
VAR_034692 commonName VAR_034692
VAR_034692 disease not phenotype-associated
VAR_034693 commonName VAR_034693
VAR_034693 disease not phenotype-associated
VAR_034694 commonName VAR_034694
VAR_034694 disease not phenotype-associated
VAR_034695 commonName VAR_034695
VAR_034695 disease not phenotype-associated
VAR_034696 commonName VAR_034696
VAR_034696 disease not phenotype-associated
VAR_034697 commonName VAR_034697
VAR_034697 disease not phenotype-associated
VAR_034698 commonName VAR_034698
VAR_034698 disease not phenotype-associated
VAR_034699 commonName VAR_034699
VAR_034699 disease not phenotype-associated
VAR_034700 commonName VAR_034700
VAR_034700 disease not phenotype-associated
VAR_034701 commonName VAR_034701
VAR_034701 disease phenotype-associated
VAR_034701 phenoCommon Coronary artery disease, autosomal dominant, type 2 (ADCAD2) [MIM:610947]
VAR_034702 commonName VAR_034702
VAR_034702 disease not phenotype-associated
VAR_034703 commonName VAR_034703
VAR_034703 disease phenotype-associated
VAR_034703 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]
VAR_034706 commonName VAR_034706
VAR_034706 disease phenotype-associated
VAR_034706 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_034706 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_034707 commonName VAR_034707
VAR_034707 disease phenotype-associated
VAR_034707 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_034709 commonName VAR_034709
VAR_034709 disease phenotype-associated
VAR_034709 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
VAR_034710 commonName VAR_034710
VAR_034710 disease phenotype-associated
VAR_034710 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
VAR_034711 commonName VAR_034711
VAR_034711 disease not phenotype-associated
VAR_034712 commonName VAR_034712
VAR_034712 disease not phenotype-associated
VAR_034713 commonName VAR_034713
VAR_034713 disease not phenotype-associated
VAR_034714 commonName VAR_034714
VAR_034714 disease not phenotype-associated
VAR_034715 commonName VAR_034715
VAR_034715 disease not phenotype-associated
VAR_034716 commonName VAR_034716
VAR_034716 disease not phenotype-associated
VAR_034717 commonName VAR_034717
VAR_034717 disease not phenotype-associated
VAR_034718 commonName VAR_034718
VAR_034718 disease not phenotype-associated
VAR_034719 commonName VAR_034719
VAR_034719 disease not phenotype-associated
VAR_034720 commonName VAR_034720
VAR_034720 disease not phenotype-associated
VAR_034721 commonName VAR_034721
VAR_034721 disease not phenotype-associated
VAR_034722 commonName VAR_034722
VAR_034722 disease not phenotype-associated
VAR_034723 commonName VAR_034723
VAR_034723 disease not phenotype-associated
VAR_034724 commonName VAR_034724
VAR_034724 disease not phenotype-associated
VAR_034725 commonName VAR_034725
VAR_034725 disease not phenotype-associated
VAR_034726 commonName VAR_034726
VAR_034726 disease not phenotype-associated
VAR_034727 commonName VAR_034727
VAR_034727 disease not phenotype-associated
VAR_034728 commonName VAR_034728
VAR_034728 disease not phenotype-associated
VAR_034729 commonName VAR_034729
VAR_034729 disease not phenotype-associated
VAR_034730 commonName VAR_034730
VAR_034730 disease not phenotype-associated
VAR_034731 commonName VAR_034731
VAR_034731 disease not phenotype-associated
VAR_034732 commonName VAR_034732
VAR_034732 disease not phenotype-associated
VAR_034733 commonName VAR_034733
VAR_034733 disease not phenotype-associated
VAR_034734 commonName VAR_034734
VAR_034734 disease not phenotype-associated
VAR_034735 commonName VAR_034735
VAR_034735 disease not phenotype-associated
VAR_034736 commonName VAR_034736
VAR_034736 disease not phenotype-associated
VAR_034737 commonName VAR_034737
VAR_034737 disease not phenotype-associated
VAR_034738 commonName VAR_034738
VAR_034738 disease not phenotype-associated
VAR_034739 commonName VAR_034739
VAR_034739 disease not phenotype-associated
VAR_034740 commonName VAR_034740
VAR_034740 disease not phenotype-associated
VAR_034742 commonName VAR_034742
VAR_034742 disease not phenotype-associated
VAR_034743 commonName VAR_034743
VAR_034743 disease not phenotype-associated
VAR_034746 commonName VAR_034746
VAR_034746 disease not phenotype-associated
VAR_034747 commonName VAR_034747
VAR_034747 disease not phenotype-associated
VAR_034748 commonName VAR_034748
VAR_034748 disease not phenotype-associated
VAR_034749 commonName VAR_034749
VAR_034749 disease not phenotype-associated
VAR_034750 commonName VAR_034750
VAR_034750 disease not phenotype-associated
VAR_034751 commonName VAR_034751
VAR_034751 disease not phenotype-associated
VAR_034752 commonName VAR_034752
VAR_034752 disease not phenotype-associated
VAR_034753 commonName VAR_034753
VAR_034753 disease not phenotype-associated
VAR_034754 commonName VAR_034754
VAR_034754 disease not phenotype-associated
VAR_034755 commonName VAR_034755
VAR_034755 disease not phenotype-associated
VAR_034756 commonName VAR_034756
VAR_034756 disease not phenotype-associated
VAR_034757 commonName VAR_034757
VAR_034757 disease not phenotype-associated
VAR_034758 commonName VAR_034758
VAR_034758 disease not phenotype-associated
VAR_034759 commonName VAR_034759
VAR_034759 disease not phenotype-associated
VAR_034760 commonName VAR_034760
VAR_034760 disease not phenotype-associated
VAR_034761 commonName VAR_034761
VAR_034761 disease not phenotype-associated
VAR_034762 commonName VAR_034762
VAR_034762 disease not phenotype-associated
VAR_034763 commonName VAR_034763
VAR_034763 disease not phenotype-associated
VAR_034764 commonName VAR_034764
VAR_034764 disease not phenotype-associated
VAR_034765 commonName VAR_034765
VAR_034765 disease not phenotype-associated
VAR_034766 commonName VAR_034766
VAR_034766 disease not phenotype-associated
VAR_034767 commonName VAR_034767
VAR_034767 disease not phenotype-associated
VAR_034768 commonName VAR_034768
VAR_034768 disease not phenotype-associated
VAR_034769 commonName VAR_034769
VAR_034769 disease not phenotype-associated
VAR_034770 commonName VAR_034770
VAR_034770 disease not phenotype-associated
VAR_034771 commonName VAR_034771
VAR_034771 disease not phenotype-associated
VAR_034772 commonName VAR_034772
VAR_034772 disease not phenotype-associated
VAR_034773 commonName VAR_034773
VAR_034773 disease not phenotype-associated
VAR_034774 commonName VAR_034774
VAR_034774 disease not phenotype-associated
VAR_034775 commonName VAR_034775
VAR_034775 disease not phenotype-associated
VAR_034776 commonName VAR_034776
VAR_034776 disease not phenotype-associated
VAR_034777 commonName VAR_034777
VAR_034777 disease not phenotype-associated
VAR_034778 commonName VAR_034778
VAR_034778 disease not phenotype-associated
VAR_034779 commonName VAR_034779
VAR_034779 disease not phenotype-associated
VAR_034782 commonName VAR_034782
VAR_034782 disease not phenotype-associated
VAR_034783 commonName VAR_034783
VAR_034783 disease not phenotype-associated
VAR_034791 commonName VAR_034791
VAR_034791 disease not phenotype-associated
VAR_034792 commonName VAR_034792
VAR_034792 disease not phenotype-associated
VAR_034793 commonName VAR_034793
VAR_034793 disease not phenotype-associated
VAR_034795 commonName VAR_034795
VAR_034795 disease not phenotype-associated
VAR_034797 commonName VAR_034797
VAR_034797 disease not phenotype-associated
VAR_034798 commonName VAR_034798
VAR_034798 disease not phenotype-associated
VAR_034799 commonName VAR_034799
VAR_034799 disease not phenotype-associated
VAR_034800 commonName VAR_034800
VAR_034800 disease not phenotype-associated
VAR_034801 commonName VAR_034801
VAR_034801 disease not phenotype-associated
VAR_034802 commonName VAR_034802
VAR_034802 disease phenotype-associated
VAR_034802 phenoCommon XFE progeroid syndrome (XFEPS) [MIM:610965]
VAR_034803 commonName VAR_034803
VAR_034803 disease phenotype-associated
VAR_034803 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]
VAR_034804 commonName VAR_034804
VAR_034804 disease phenotype-associated
VAR_034804 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_034805 commonName VAR_034805
VAR_034805 disease phenotype-associated
VAR_034805 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_034806 commonName VAR_034806
VAR_034806 disease phenotype-associated
VAR_034806 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]
VAR_034807 commonName VAR_034807
VAR_034807 disease phenotype-associated
VAR_034807 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]
VAR_034808 commonName VAR_034808
VAR_034808 disease phenotype-associated
VAR_034808 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]
VAR_034809 commonName VAR_034809
VAR_034809 disease phenotype-associated
VAR_034809 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]
VAR_034810 commonName VAR_034810
VAR_034810 disease not phenotype-associated
VAR_034811 commonName VAR_034811
VAR_034811 disease not phenotype-associated
VAR_034812 commonName VAR_034812
VAR_034812 disease not phenotype-associated
VAR_034813 commonName VAR_034813
VAR_034813 disease not phenotype-associated
VAR_034814 commonName VAR_034814
VAR_034814 disease not phenotype-associated
VAR_034815 commonName VAR_034815
VAR_034816 commonName VAR_034816
VAR_034817 commonName VAR_034817
VAR_034817 disease not phenotype-associated
VAR_034818 commonName VAR_034818
VAR_034818 disease not phenotype-associated
VAR_034819 commonName VAR_034819
VAR_034819 disease not phenotype-associated
VAR_034820 commonName VAR_034820
VAR_034820 disease not phenotype-associated
VAR_034821 commonName VAR_034821
VAR_034821 disease not phenotype-associated
VAR_034823 commonName VAR_034823
VAR_034823 disease not phenotype-associated
VAR_034824 commonName VAR_034824
VAR_034824 disease not phenotype-associated
VAR_034825 commonName VAR_034825
VAR_034825 disease not phenotype-associated
VAR_034826 commonName VAR_034826
VAR_034826 disease not phenotype-associated
VAR_034827 commonName VAR_034827
VAR_034827 disease not phenotype-associated
VAR_034828 commonName VAR_034828
VAR_034828 disease not phenotype-associated
VAR_034829 commonName VAR_034829
VAR_034829 disease not phenotype-associated
VAR_034830 commonName VAR_034830
VAR_034830 disease not phenotype-associated
VAR_034831 commonName VAR_034831
VAR_034831 disease not phenotype-associated
VAR_034832 commonName VAR_034832
VAR_034832 disease not phenotype-associated
VAR_034833 commonName VAR_034833
VAR_034833 disease not phenotype-associated
VAR_034834 commonName VAR_034834
VAR_034834 disease not phenotype-associated
VAR_034835 commonName VAR_034835
VAR_034835 disease not phenotype-associated
VAR_034836 commonName VAR_034836
VAR_034836 disease not phenotype-associated
VAR_034837 commonName VAR_034837
VAR_034837 disease not phenotype-associated
VAR_034838 commonName VAR_034838
VAR_034838 disease not phenotype-associated
VAR_034841 commonName VAR_034841
VAR_034841 disease not phenotype-associated
VAR_034842 commonName VAR_034842
VAR_034842 disease not phenotype-associated
VAR_034843 commonName VAR_034843
VAR_034843 disease not phenotype-associated
VAR_034844 commonName VAR_034844
VAR_034844 disease phenotype-associated
VAR_034844 phenoCommon Dystonia type 8 (DYT8) [MIM:118800]
VAR_034845 commonName VAR_034845
VAR_034845 disease phenotype-associated
VAR_034845 phenoCommon Dystonia type 8 (DYT8) [MIM:118800]
VAR_034846 commonName VAR_034846
VAR_034846 disease not phenotype-associated
VAR_034847 commonName VAR_034847
VAR_034847 disease not phenotype-associated
VAR_034848 commonName VAR_034848
VAR_034848 disease not phenotype-associated
VAR_034849 commonName VAR_034849
VAR_034849 disease not phenotype-associated
VAR_034850 commonName VAR_034850
VAR_034850 disease not phenotype-associated
VAR_034851 commonName VAR_034851
VAR_034851 disease not phenotype-associated
VAR_034852 commonName VAR_034852
VAR_034852 disease not phenotype-associated
VAR_034853 commonName VAR_034853
VAR_034853 disease not phenotype-associated
VAR_034854 commonName VAR_034854
VAR_034854 disease not phenotype-associated
VAR_034855 commonName VAR_034855
VAR_034855 disease not phenotype-associated
VAR_034856 commonName VAR_034856
VAR_034856 disease not phenotype-associated
VAR_034857 commonName VAR_034857
VAR_034857 disease not phenotype-associated
VAR_034858 commonName VAR_034858
VAR_034858 disease not phenotype-associated
VAR_034859 commonName VAR_034859
VAR_034859 disease not phenotype-associated
VAR_034860 commonName VAR_034860
VAR_034860 disease not phenotype-associated
VAR_034861 commonName VAR_034861
VAR_034861 disease not phenotype-associated
VAR_034862 commonName VAR_034862
VAR_034862 disease not phenotype-associated
VAR_034863 commonName VAR_034863
VAR_034863 disease not phenotype-associated
VAR_034864 commonName VAR_034864
VAR_034864 disease not phenotype-associated
VAR_034865 commonName VAR_034865
VAR_034865 disease not phenotype-associated
VAR_034866 commonName VAR_034866
VAR_034866 disease phenotype-associated
VAR_034866 phenoCommon Complement factor D deficiency (CFDD) [MIM:613912]
VAR_034867 commonName VAR_034867
VAR_034867 disease phenotype-associated
VAR_034867 phenoCommon Complement factor D deficiency (CFDD) [MIM:613912]
VAR_034868 commonName VAR_034868
VAR_034868 disease not phenotype-associated
VAR_034869 commonName VAR_034869
VAR_034869 disease not phenotype-associated
VAR_034870 commonName VAR_034870
VAR_034871 commonName VAR_034871
VAR_034871 disease phenotype-associated
VAR_034871 phenoCommon Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]
VAR_034872 commonName VAR_034872
VAR_034872 disease not phenotype-associated
VAR_034873 commonName VAR_034873
VAR_034873 disease not phenotype-associated
VAR_034874 commonName VAR_034874
VAR_034874 disease not phenotype-associated
VAR_034875 commonName VAR_034875
VAR_034875 disease not phenotype-associated
VAR_034876 commonName VAR_034876
VAR_034876 disease not phenotype-associated
VAR_034877 commonName VAR_034877
VAR_034877 disease not phenotype-associated
VAR_034878 commonName VAR_034878
VAR_034878 disease not phenotype-associated
VAR_034879 commonName VAR_034879
VAR_034879 disease phenotype-associated
VAR_034879 phenoCommon Coenzyme Q10 deficiency, primary, type 2 (COQ10D2) [MIM:614651]
VAR_034880 commonName VAR_034880
VAR_034880 disease not phenotype-associated
VAR_034881 commonName VAR_034881
VAR_034881 disease not phenotype-associated
VAR_034882 commonName VAR_034882
VAR_034882 disease not phenotype-associated
VAR_034883 commonName VAR_034883
VAR_034883 disease not phenotype-associated
VAR_034884 commonName VAR_034884
VAR_034884 disease not phenotype-associated
VAR_034885 commonName VAR_034885
VAR_034885 disease not phenotype-associated
VAR_034886 commonName VAR_034886
VAR_034886 disease not phenotype-associated
VAR_034887 commonName VAR_034887
VAR_034887 disease not phenotype-associated
VAR_034888 commonName VAR_034888
VAR_034888 disease not phenotype-associated
VAR_034889 commonName VAR_034889
VAR_034889 disease not phenotype-associated
VAR_034890 commonName VAR_034890
VAR_034890 disease not phenotype-associated
VAR_034891 commonName VAR_034891
VAR_034891 disease phenotype-associated
VAR_034891 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
VAR_034892 commonName VAR_034892
VAR_034892 disease phenotype-associated
VAR_034892 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
VAR_034893 commonName VAR_034893
VAR_034893 disease not phenotype-associated
VAR_034894 commonName VAR_034894
VAR_034894 disease not phenotype-associated
VAR_034895 commonName VAR_034895
VAR_034895 disease phenotype-associated
VAR_034895 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
VAR_034896 commonName VAR_034896
VAR_034896 disease not phenotype-associated
VAR_034897 commonName VAR_034897
VAR_034897 disease not phenotype-associated
VAR_034898 commonName VAR_034898
VAR_034898 disease not phenotype-associated
VAR_034899 commonName VAR_034899
VAR_034899 disease phenotype-associated
VAR_034899 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]
VAR_034901 commonName VAR_034901
VAR_034901 disease not phenotype-associated
VAR_034902 commonName VAR_034902
VAR_034902 disease phenotype-associated
VAR_034902 phenoCommon Acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000]
VAR_034903 commonName VAR_034903
VAR_034903 disease not phenotype-associated
VAR_034904 commonName VAR_034904
VAR_034904 disease phenotype-associated
VAR_034904 phenoCommon Infantile striatonigral degeneration (SNDI) [MIM:271930]
VAR_034905 commonName VAR_034905
VAR_034905 disease phenotype-associated
VAR_034905 phenoCommon Microphthalmia isolated type 3 (MCOP3) [MIM:611038]
VAR_034906 commonName VAR_034906
VAR_034906 disease phenotype-associated
VAR_034906 phenoCommon Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]
VAR_034907 commonName VAR_034907
VAR_034907 disease phenotype-associated
VAR_034907 phenoCommon Complement factor I deficiency (CFI deficiency) [MIM:610984]
VAR_034908 commonName VAR_034908
VAR_034908 disease not phenotype-associated
VAR_034909 commonName VAR_034909
VAR_034909 disease not phenotype-associated
VAR_034910 commonName VAR_034910
VAR_034910 disease not phenotype-associated
VAR_034911 commonName VAR_034911
VAR_034911 disease not phenotype-associated
VAR_034912 commonName VAR_034912
VAR_034912 disease not phenotype-associated
VAR_034913 commonName VAR_034913
VAR_034913 disease not phenotype-associated
VAR_034914 commonName VAR_034914
VAR_034914 disease not phenotype-associated
VAR_034915 commonName VAR_034915
VAR_034915 disease not phenotype-associated
VAR_034916 commonName VAR_034916
VAR_034916 disease not phenotype-associated
VAR_034917 commonName VAR_034917
VAR_034917 disease not phenotype-associated
VAR_034918 commonName VAR_034918
VAR_034918 disease not phenotype-associated
VAR_034919 commonName VAR_034919
VAR_034919 disease not phenotype-associated
VAR_034921 commonName VAR_034921
VAR_034921 disease not phenotype-associated
VAR_034922 commonName VAR_034922
VAR_034922 disease phenotype-associated
VAR_034922 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_034923 commonName VAR_034923
VAR_034923 disease not phenotype-associated
VAR_034924 commonName VAR_034924
VAR_034924 disease not phenotype-associated
VAR_034925 commonName VAR_034925
VAR_034925 disease not phenotype-associated
VAR_034926 commonName VAR_034926
VAR_034926 disease phenotype-associated
VAR_034926 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_034927 commonName VAR_034927
VAR_034927 disease not phenotype-associated
VAR_034928 commonName VAR_034928
VAR_034928 disease not phenotype-associated
VAR_034929 commonName VAR_034929
VAR_034929 disease not phenotype-associated
VAR_034930 commonName VAR_034930
VAR_034930 disease not phenotype-associated
VAR_034931 commonName VAR_034931
VAR_034931 disease not phenotype-associated
VAR_034932 commonName VAR_034932
VAR_034932 disease phenotype-associated
VAR_034932 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_034933 commonName VAR_034933
VAR_034933 disease not phenotype-associated
VAR_034934 commonName VAR_034934
VAR_034934 disease not phenotype-associated
VAR_034936 commonName VAR_034936
VAR_034936 disease not phenotype-associated
VAR_034937 commonName VAR_034937
VAR_034937 disease not phenotype-associated
VAR_034938 commonName VAR_034938
VAR_034938 disease not phenotype-associated
VAR_034939 commonName VAR_034939
VAR_034939 disease not phenotype-associated
VAR_034941 commonName VAR_034941
VAR_034941 disease not phenotype-associated
VAR_034942 commonName VAR_034942
VAR_034942 disease not phenotype-associated
VAR_034943 commonName VAR_034943
VAR_034943 disease not phenotype-associated
VAR_034944 commonName VAR_034944
VAR_034944 disease not phenotype-associated
VAR_034945 commonName VAR_034945
VAR_034945 disease phenotype-associated
VAR_034945 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_034946 commonName VAR_034946
VAR_034946 disease phenotype-associated
VAR_034946 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
VAR_034947 commonName VAR_034947
VAR_034947 disease phenotype-associated
VAR_034947 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
VAR_034948 commonName VAR_034948
VAR_034948 disease phenotype-associated
VAR_034948 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_034949 commonName VAR_034949
VAR_034949 disease phenotype-associated
VAR_034949 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_034950 commonName VAR_034950
VAR_034950 disease phenotype-associated
VAR_034950 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_034951 commonName VAR_034951
VAR_034951 disease phenotype-associated
VAR_034951 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
VAR_034952 commonName VAR_034952
VAR_034952 disease not phenotype-associated
VAR_034953 commonName VAR_034953
VAR_034953 disease phenotype-associated
VAR_034953 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]
VAR_034954 commonName VAR_034954
VAR_034954 disease phenotype-associated
VAR_034954 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_034955 commonName VAR_034955
VAR_034955 disease phenotype-associated
VAR_034955 phenoCommon Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]
VAR_034956 commonName VAR_034956
VAR_034956 disease phenotype-associated
VAR_034956 phenoCommon Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]
VAR_034957 commonName VAR_034957
VAR_034958 commonName VAR_034958
VAR_034958 disease not phenotype-associated
VAR_034959 commonName VAR_034959
VAR_034959 disease not phenotype-associated
VAR_034960 commonName VAR_034960
VAR_034960 disease not phenotype-associated
VAR_034961 commonName VAR_034961
VAR_034961 disease not phenotype-associated
VAR_034962 commonName VAR_034962
VAR_034962 disease not phenotype-associated
VAR_034963 commonName VAR_034963
VAR_034963 disease not phenotype-associated
VAR_034964 commonName VAR_034964
VAR_034964 disease not phenotype-associated
VAR_034965 commonName VAR_034965
VAR_034965 disease not phenotype-associated
VAR_034966 commonName VAR_034966
VAR_034966 disease not phenotype-associated
VAR_034967 commonName VAR_034967
VAR_034967 disease not phenotype-associated
VAR_034968 commonName VAR_034968
VAR_034968 disease not phenotype-associated
VAR_034969 commonName VAR_034969
VAR_034969 disease not phenotype-associated
VAR_034970 commonName VAR_034970
VAR_034970 disease not phenotype-associated
VAR_034971 commonName VAR_034971
VAR_034971 disease not phenotype-associated
VAR_034972 commonName VAR_034972
VAR_034972 disease not phenotype-associated
VAR_034973 commonName VAR_034973
VAR_034973 disease not phenotype-associated
VAR_034974 commonName VAR_034974
VAR_034974 disease not phenotype-associated
VAR_034975 commonName VAR_034975
VAR_034975 disease not phenotype-associated
VAR_034976 commonName VAR_034976
VAR_034976 disease not phenotype-associated
VAR_034978 commonName VAR_034978
VAR_034978 disease not phenotype-associated
VAR_034979 commonName VAR_034979
VAR_034980 commonName VAR_034980
VAR_034981 commonName VAR_034981
VAR_034981 disease not phenotype-associated
VAR_034982 commonName VAR_034982
VAR_034985 commonName VAR_034985
VAR_034985 disease phenotype-associated
VAR_034985 phenoCommon Craniosynostosis type 1 (CRS1) [MIM:123100]
VAR_034986 commonName VAR_034986
VAR_034986 disease phenotype-associated
VAR_034986 phenoCommon Craniosynostosis type 1 (CRS1) [MIM:123100]
VAR_034987 commonName VAR_034987
VAR_034987 disease phenotype-associated
VAR_034987 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034988 commonName VAR_034988
VAR_034988 disease phenotype-associated
VAR_034988 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034989 commonName VAR_034989
VAR_034989 disease phenotype-associated
VAR_034989 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034991 commonName VAR_034991
VAR_034991 disease phenotype-associated
VAR_034991 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034992 commonName VAR_034992
VAR_034992 disease phenotype-associated
VAR_034992 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300]
VAR_034993 commonName VAR_034993
VAR_034993 disease phenotype-associated
VAR_034993 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034994 commonName VAR_034994
VAR_034994 disease phenotype-associated
VAR_034994 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_034995 commonName VAR_034995
VAR_034996 commonName VAR_034996
VAR_034996 disease phenotype-associated
VAR_034996 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034997 commonName VAR_034997
VAR_034997 disease phenotype-associated
VAR_034997 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_034998 commonName VAR_034998
VAR_034998 disease phenotype-associated
VAR_034998 phenoCommon Renal cell carcinoma (RCC) [MIM:144700]
VAR_034999 commonName VAR_034999
VAR_034999 disease phenotype-associated
VAR_034999 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_035000 commonName VAR_035000
VAR_035000 disease phenotype-associated
VAR_035000 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400]
VAR_035001 commonName VAR_035001
VAR_035001 disease phenotype-associated
VAR_035001 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_035002 commonName VAR_035002
VAR_035002 disease not phenotype-associated
VAR_035003 commonName VAR_035003
VAR_035003 disease not phenotype-associated
VAR_035004 commonName VAR_035004
VAR_035004 disease not phenotype-associated
VAR_035005 commonName VAR_035005
VAR_035005 disease not phenotype-associated
VAR_035006 commonName VAR_035006
VAR_035006 disease phenotype-associated
VAR_035006 phenoCommon Asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263]
VAR_035010 commonName VAR_035010
VAR_035010 disease not phenotype-associated
VAR_035011 commonName VAR_035011
VAR_035011 disease not phenotype-associated
VAR_035012 commonName VAR_035012
VAR_035012 disease not phenotype-associated
VAR_035013 commonName VAR_035013
VAR_035013 disease phenotype-associated
VAR_035013 phenoCommon Familial atrial standstill (FAS) [MIM:108770]
VAR_035014 commonName VAR_035014
VAR_035014 disease phenotype-associated
VAR_035014 phenoCommon Familial atrial standstill (FAS) [MIM:108770]
VAR_035016 commonName VAR_035016
VAR_035016 disease phenotype-associated
VAR_035016 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_035017 commonName VAR_035017
VAR_035017 disease not phenotype-associated
VAR_035018 commonName VAR_035018
VAR_035018 disease not phenotype-associated
VAR_035020 commonName VAR_035020
VAR_035020 disease not phenotype-associated
VAR_035021 commonName VAR_035021
VAR_035021 disease not phenotype-associated
VAR_035022 commonName VAR_035022
VAR_035022 disease not phenotype-associated
VAR_035024 commonName VAR_035024
VAR_035024 disease not phenotype-associated
VAR_035025 commonName VAR_035025
VAR_035025 disease phenotype-associated
VAR_035025 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095]
VAR_035025 phenoCommon Velocardiofacial syndrome (VCFS) [MIM:192430]
VAR_035026 commonName VAR_035026
VAR_035026 disease phenotype-associated
VAR_035026 phenoCommon Velocardiofacial syndrome (VCFS) [MIM:192430]
VAR_035027 commonName VAR_035027
VAR_035027 disease phenotype-associated
VAR_035027 phenoCommon Ring dermoid of cornea (RDC) [MIM:180550]
VAR_035029 commonName VAR_035029
VAR_035029 disease phenotype-associated
VAR_035029 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_035030 commonName VAR_035030
VAR_035030 disease not phenotype-associated
VAR_035031 commonName VAR_035031
VAR_035031 disease not phenotype-associated
VAR_035032 commonName VAR_035032
VAR_035032 disease not phenotype-associated
VAR_035033 commonName VAR_035033
VAR_035033 disease not phenotype-associated
VAR_035036 commonName VAR_035036
VAR_035036 disease not phenotype-associated
VAR_035037 commonName VAR_035037
VAR_035037 disease not phenotype-associated
VAR_035038 commonName VAR_035038
VAR_035038 disease not phenotype-associated
VAR_035039 commonName VAR_035039
VAR_035039 disease not phenotype-associated
VAR_035041 commonName VAR_035041
VAR_035041 disease not phenotype-associated
VAR_035042 commonName VAR_035042
VAR_035042 disease not phenotype-associated
VAR_035043 commonName VAR_035043
VAR_035043 disease not phenotype-associated
VAR_035044 commonName VAR_035044
VAR_035044 disease not phenotype-associated
VAR_035045 commonName VAR_035045
VAR_035045 disease not phenotype-associated
VAR_035046 commonName VAR_035046
VAR_035046 disease not phenotype-associated
VAR_035048 commonName VAR_035048
VAR_035048 disease not phenotype-associated
VAR_035049 commonName VAR_035049
VAR_035049 disease not phenotype-associated
VAR_035052 commonName VAR_035052
VAR_035052 disease not phenotype-associated
VAR_035053 commonName VAR_035053
VAR_035053 disease not phenotype-associated
VAR_035054 commonName VAR_035054
VAR_035054 disease not phenotype-associated
VAR_035055 commonName VAR_035055
VAR_035055 disease not phenotype-associated
VAR_035056 commonName VAR_035056
VAR_035056 disease not phenotype-associated
VAR_035057 commonName VAR_035057
VAR_035057 disease not phenotype-associated
VAR_035058 commonName VAR_035058
VAR_035058 disease not phenotype-associated
VAR_035059 commonName VAR_035059
VAR_035059 disease not phenotype-associated
VAR_035060 commonName VAR_035060
VAR_035060 disease not phenotype-associated
VAR_035061 commonName VAR_035061
VAR_035061 disease not phenotype-associated
VAR_035062 commonName VAR_035062
VAR_035062 disease not phenotype-associated
VAR_035064 commonName VAR_035064
VAR_035064 disease phenotype-associated
VAR_035064 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_035065 commonName VAR_035065
VAR_035065 disease phenotype-associated
VAR_035065 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_035066 commonName VAR_035066
VAR_035066 disease phenotype-associated
VAR_035066 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_035067 commonName VAR_035067
VAR_035067 disease phenotype-associated
VAR_035067 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_035069 commonName VAR_035069
VAR_035069 disease phenotype-associated
VAR_035069 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_035070 commonName VAR_035070
VAR_035070 disease phenotype-associated
VAR_035070 phenoCommon Hyperekplexia type 2 (HKPX2) [MIM:614619]
VAR_035071 commonName VAR_035071
VAR_035071 disease phenotype-associated
VAR_035071 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035072 commonName VAR_035072
VAR_035072 disease phenotype-associated
VAR_035072 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035073 commonName VAR_035073
VAR_035073 disease phenotype-associated
VAR_035073 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035074 commonName VAR_035074
VAR_035074 disease phenotype-associated
VAR_035074 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035075 commonName VAR_035075
VAR_035075 disease phenotype-associated
VAR_035075 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035076 commonName VAR_035076
VAR_035076 disease phenotype-associated
VAR_035076 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035077 commonName VAR_035077
VAR_035077 disease phenotype-associated
VAR_035077 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035078 commonName VAR_035078
VAR_035078 disease phenotype-associated
VAR_035078 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035079 commonName VAR_035079
VAR_035079 disease phenotype-associated
VAR_035079 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
VAR_035080 commonName VAR_035080
VAR_035080 disease phenotype-associated
VAR_035080 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_035081 commonName VAR_035081
VAR_035081 disease phenotype-associated
VAR_035081 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_035082 commonName VAR_035082
VAR_035082 disease phenotype-associated
VAR_035082 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_035083 commonName VAR_035083
VAR_035083 disease phenotype-associated
VAR_035083 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_035084 commonName VAR_035084
VAR_035084 disease phenotype-associated
VAR_035084 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_035086 commonName VAR_035086
VAR_035086 disease phenotype-associated
VAR_035086 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430]
VAR_035087 commonName VAR_035087
VAR_035087 disease phenotype-associated
VAR_035087 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430]
VAR_035088 commonName VAR_035088
VAR_035088 disease phenotype-associated
VAR_035088 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430]
VAR_035089 commonName VAR_035089
VAR_035089 disease phenotype-associated
VAR_035089 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_035090 commonName VAR_035090
VAR_035090 disease phenotype-associated
VAR_035090 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_035093 commonName VAR_035093
VAR_035093 disease phenotype-associated
VAR_035093 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035094 commonName VAR_035094
VAR_035094 disease phenotype-associated
VAR_035094 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035095 commonName VAR_035095
VAR_035095 disease phenotype-associated
VAR_035095 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035096 commonName VAR_035096
VAR_035096 disease phenotype-associated
VAR_035096 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035097 commonName VAR_035097
VAR_035097 disease phenotype-associated
VAR_035097 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035098 commonName VAR_035098
VAR_035098 disease phenotype-associated
VAR_035098 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_035099 commonName VAR_035099
VAR_035099 disease phenotype-associated
VAR_035099 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_035100 commonName VAR_035100
VAR_035100 disease phenotype-associated
VAR_035100 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_035101 commonName VAR_035101
VAR_035101 disease phenotype-associated
VAR_035101 phenoCommon Familial hypertrophic cardiomyopathy type 15 (CMH15) [MIM:613255]
VAR_035102 commonName VAR_035102
VAR_035102 disease not phenotype-associated
VAR_035103 commonName VAR_035103
VAR_035103 disease not phenotype-associated
VAR_035106 commonName VAR_035106
VAR_035106 disease not phenotype-associated
VAR_035107 commonName VAR_035107
VAR_035107 disease not phenotype-associated
VAR_035108 commonName VAR_035108
VAR_035108 disease not phenotype-associated
VAR_035109 commonName VAR_035109
VAR_035109 disease not phenotype-associated
VAR_035110 commonName VAR_035110
VAR_035110 disease not phenotype-associated
VAR_035111 commonName VAR_035111
VAR_035111 disease not phenotype-associated
VAR_035112 commonName VAR_035112
VAR_035112 disease not phenotype-associated
VAR_035113 commonName VAR_035113
VAR_035113 disease not phenotype-associated
VAR_035114 commonName VAR_035114
VAR_035114 disease not phenotype-associated
VAR_035115 commonName VAR_035115
VAR_035115 disease not phenotype-associated
VAR_035116 commonName VAR_035116
VAR_035116 disease not phenotype-associated
VAR_035117 commonName VAR_035117
VAR_035117 disease not phenotype-associated
VAR_035118 commonName VAR_035118
VAR_035118 disease not phenotype-associated
VAR_035119 commonName VAR_035119
VAR_035119 disease not phenotype-associated
VAR_035120 commonName VAR_035120
VAR_035120 disease not phenotype-associated
VAR_035121 commonName VAR_035121
VAR_035121 disease not phenotype-associated
VAR_035122 commonName VAR_035122
VAR_035122 disease not phenotype-associated
VAR_035123 commonName VAR_035123
VAR_035123 disease not phenotype-associated
VAR_035124 commonName VAR_035124
VAR_035124 disease not phenotype-associated
VAR_035125 commonName VAR_035125
VAR_035125 disease not phenotype-associated
VAR_035126 commonName VAR_035126
VAR_035126 disease not phenotype-associated
VAR_035127 commonName VAR_035127
VAR_035127 disease phenotype-associated
VAR_035127 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]
VAR_035127 phenoCommon Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]
VAR_035128 commonName VAR_035128
VAR_035128 disease phenotype-associated
VAR_035128 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]
VAR_035129 commonName VAR_035129
VAR_035129 disease phenotype-associated
VAR_035129 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]
VAR_035130 commonName VAR_035130
VAR_035130 disease not phenotype-associated
VAR_035131 commonName VAR_035131
VAR_035131 disease not phenotype-associated
VAR_035132 commonName VAR_035132
VAR_035132 disease not phenotype-associated
VAR_035133 commonName VAR_035133
VAR_035133 disease not phenotype-associated
VAR_035134 commonName VAR_035134
VAR_035134 disease not phenotype-associated
VAR_035135 commonName VAR_035135
VAR_035135 disease not phenotype-associated
VAR_035136 commonName VAR_035136
VAR_035136 disease not phenotype-associated
VAR_035137 commonName VAR_035137
VAR_035137 disease not phenotype-associated
VAR_035142 commonName VAR_035142
VAR_035142 disease not phenotype-associated
VAR_035144 commonName VAR_035144
VAR_035144 disease not phenotype-associated
VAR_035145 commonName VAR_035145
VAR_035145 disease not phenotype-associated
VAR_035146 commonName VAR_035146
VAR_035146 disease not phenotype-associated
VAR_035147 commonName VAR_035147
VAR_035147 disease not phenotype-associated
VAR_035148 commonName VAR_035148
VAR_035148 disease not phenotype-associated
VAR_035149 commonName VAR_035149
VAR_035149 disease not phenotype-associated
VAR_035150 commonName VAR_035150
VAR_035150 disease not phenotype-associated
VAR_035151 commonName VAR_035151
VAR_035151 disease not phenotype-associated
VAR_035152 commonName VAR_035152
VAR_035152 disease not phenotype-associated
VAR_035153 commonName VAR_035153
VAR_035153 disease not phenotype-associated
VAR_035154 commonName VAR_035154
VAR_035154 disease not phenotype-associated
VAR_035155 commonName VAR_035155
VAR_035155 disease not phenotype-associated
VAR_035156 commonName VAR_035156
VAR_035156 disease not phenotype-associated
VAR_035157 commonName VAR_035157
VAR_035157 disease not phenotype-associated
VAR_035158 commonName VAR_035158
VAR_035158 disease not phenotype-associated
VAR_035159 commonName VAR_035159
VAR_035159 disease not phenotype-associated
VAR_035160 commonName VAR_035160
VAR_035160 disease not phenotype-associated
VAR_035161 commonName VAR_035161
VAR_035161 disease not phenotype-associated
VAR_035162 commonName VAR_035162
VAR_035162 disease not phenotype-associated
VAR_035163 commonName VAR_035163
VAR_035163 disease not phenotype-associated
VAR_035164 commonName VAR_035164
VAR_035164 disease not phenotype-associated
VAR_035166 commonName VAR_035166
VAR_035166 disease not phenotype-associated
VAR_035167 commonName VAR_035167
VAR_035167 disease not phenotype-associated
VAR_035168 commonName VAR_035168
VAR_035168 disease not phenotype-associated
VAR_035169 commonName VAR_035169
VAR_035169 disease not phenotype-associated
VAR_035170 commonName VAR_035170
VAR_035170 disease not phenotype-associated
VAR_035173 commonName VAR_035173
VAR_035173 disease phenotype-associated
VAR_035173 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_035174 commonName VAR_035174
VAR_035174 disease not phenotype-associated
VAR_035175 commonName VAR_035175
VAR_035176 commonName VAR_035176
VAR_035176 disease not phenotype-associated
VAR_035177 commonName VAR_035177
VAR_035177 disease not phenotype-associated
VAR_035178 commonName VAR_035178
VAR_035178 disease phenotype-associated
VAR_035178 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_035179 commonName VAR_035179
VAR_035179 disease not phenotype-associated
VAR_035180 commonName VAR_035180
VAR_035180 disease phenotype-associated
VAR_035180 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550]
VAR_035185 commonName VAR_035185
VAR_035185 disease not phenotype-associated
VAR_035186 commonName VAR_035186
VAR_035186 disease not phenotype-associated
VAR_035187 commonName VAR_035187
VAR_035187 disease not phenotype-associated
VAR_035193 commonName VAR_035193
VAR_035193 disease not phenotype-associated
VAR_035194 commonName VAR_035194
VAR_035194 disease not phenotype-associated
VAR_035195 commonName VAR_035195
VAR_035195 disease not phenotype-associated
VAR_035197 commonName VAR_035197
VAR_035197 disease not phenotype-associated
VAR_035198 commonName VAR_035198
VAR_035198 disease not phenotype-associated
VAR_035199 commonName VAR_035199
VAR_035199 disease not phenotype-associated
VAR_035200 commonName VAR_035200
VAR_035200 disease not phenotype-associated
VAR_035201 commonName VAR_035201
VAR_035201 disease not phenotype-associated
VAR_035202 commonName VAR_035202
VAR_035202 disease not phenotype-associated
VAR_035203 commonName VAR_035203
VAR_035203 disease not phenotype-associated
VAR_035204 commonName VAR_035204
VAR_035204 disease not phenotype-associated
VAR_035205 commonName VAR_035205
VAR_035205 disease not phenotype-associated
VAR_035206 commonName VAR_035206
VAR_035206 disease not phenotype-associated
VAR_035207 commonName VAR_035207
VAR_035207 disease not phenotype-associated
VAR_035209 commonName VAR_035209
VAR_035209 disease phenotype-associated
VAR_035209 phenoCommon Sacral defect with anterior meningocele (SDAM) [MIM:600145]
VAR_035210 commonName VAR_035210
VAR_035210 disease phenotype-associated
VAR_035210 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_035211 commonName VAR_035211
VAR_035211 disease phenotype-associated
VAR_035211 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_035212 commonName VAR_035212
VAR_035213 commonName VAR_035213
VAR_035214 commonName VAR_035214
VAR_035215 commonName VAR_035215
VAR_035216 commonName VAR_035216
VAR_035217 commonName VAR_035217
VAR_035217 disease not phenotype-associated
VAR_035218 commonName VAR_035218
VAR_035218 disease not phenotype-associated
VAR_035219 commonName VAR_035219
VAR_035219 disease not phenotype-associated
VAR_035220 commonName VAR_035220
VAR_035220 disease not phenotype-associated
VAR_035221 commonName VAR_035221
VAR_035221 disease not phenotype-associated
VAR_035222 commonName VAR_035222
VAR_035222 disease not phenotype-associated
VAR_035223 commonName VAR_035223
VAR_035223 disease not phenotype-associated
VAR_035224 commonName VAR_035224
VAR_035224 disease not phenotype-associated
VAR_035225 commonName VAR_035225
VAR_035225 disease not phenotype-associated
VAR_035228 commonName VAR_035228
VAR_035228 disease not phenotype-associated
VAR_035229 commonName VAR_035229
VAR_035229 disease not phenotype-associated
VAR_035230 commonName VAR_035230
VAR_035230 disease not phenotype-associated
VAR_035231 commonName VAR_035231
VAR_035231 disease not phenotype-associated
VAR_035232 commonName VAR_035232
VAR_035232 disease not phenotype-associated
VAR_035233 commonName VAR_035233
VAR_035233 disease not phenotype-associated
VAR_035234 commonName VAR_035234
VAR_035234 disease not phenotype-associated
VAR_035235 commonName VAR_035235
VAR_035235 disease not phenotype-associated
VAR_035236 commonName VAR_035236
VAR_035239 commonName VAR_035239
VAR_035240 commonName VAR_035240
VAR_035242 commonName VAR_035242
VAR_035243 commonName VAR_035243
VAR_035243 disease not phenotype-associated
VAR_035244 commonName VAR_035244
VAR_035244 disease not phenotype-associated
VAR_035245 commonName VAR_035245
VAR_035245 disease not phenotype-associated
VAR_035246 commonName VAR_035246
VAR_035246 disease not phenotype-associated
VAR_035249 commonName VAR_035249
VAR_035249 disease not phenotype-associated
VAR_035250 commonName VAR_035250
VAR_035250 disease not phenotype-associated
VAR_035251 commonName VAR_035251
VAR_035251 disease not phenotype-associated
VAR_035252 commonName VAR_035252
VAR_035252 disease not phenotype-associated
VAR_035253 commonName VAR_035253
VAR_035253 disease not phenotype-associated
VAR_035254 commonName VAR_035254
VAR_035254 disease not phenotype-associated
VAR_035255 commonName VAR_035255
VAR_035255 disease not phenotype-associated
VAR_035256 commonName VAR_035256
VAR_035256 disease not phenotype-associated
VAR_035257 commonName VAR_035257
VAR_035257 disease not phenotype-associated
VAR_035258 commonName VAR_035258
VAR_035258 disease not phenotype-associated
VAR_035259 commonName VAR_035259
VAR_035259 disease not phenotype-associated
VAR_035260 commonName VAR_035260
VAR_035260 disease not phenotype-associated
VAR_035261 commonName VAR_035261
VAR_035261 disease not phenotype-associated
VAR_035262 commonName VAR_035262
VAR_035262 disease not phenotype-associated
VAR_035263 commonName VAR_035263
VAR_035263 disease not phenotype-associated
VAR_035264 commonName VAR_035264
VAR_035264 disease not phenotype-associated
VAR_035265 commonName VAR_035265
VAR_035265 disease not phenotype-associated
VAR_035266 commonName VAR_035266
VAR_035266 disease not phenotype-associated
VAR_035267 commonName VAR_035267
VAR_035267 disease not phenotype-associated
VAR_035268 commonName VAR_035268
VAR_035268 disease not phenotype-associated
VAR_035277 commonName VAR_035277
VAR_035277 disease not phenotype-associated
VAR_035278 commonName VAR_035278
VAR_035278 disease not phenotype-associated
VAR_035279 commonName VAR_035279
VAR_035279 disease not phenotype-associated
VAR_035280 commonName VAR_035280
VAR_035280 disease not phenotype-associated
VAR_035284 commonName VAR_035284
VAR_035284 disease not phenotype-associated
VAR_035285 commonName VAR_035285
VAR_035285 disease not phenotype-associated
VAR_035286 commonName VAR_035286
VAR_035286 disease not phenotype-associated
VAR_035287 commonName VAR_035287
VAR_035287 disease not phenotype-associated
VAR_035288 commonName VAR_035288
VAR_035288 disease not phenotype-associated
VAR_035289 commonName VAR_035289
VAR_035289 disease not phenotype-associated
VAR_035290 commonName VAR_035290
VAR_035290 disease not phenotype-associated
VAR_035291 commonName VAR_035291
VAR_035291 disease not phenotype-associated
VAR_035292 commonName VAR_035292
VAR_035292 disease not phenotype-associated
VAR_035293 commonName VAR_035293
VAR_035293 disease not phenotype-associated
VAR_035298 commonName VAR_035298
VAR_035298 disease not phenotype-associated
VAR_035299 commonName VAR_035299
VAR_035299 disease not phenotype-associated
VAR_035300 commonName VAR_035300
VAR_035300 disease not phenotype-associated
VAR_035301 commonName VAR_035301
VAR_035301 disease not phenotype-associated
VAR_035302 commonName VAR_035302
VAR_035302 disease not phenotype-associated
VAR_035303 commonName VAR_035303
VAR_035303 disease not phenotype-associated
VAR_035304 commonName VAR_035304
VAR_035304 disease not phenotype-associated
VAR_035305 commonName VAR_035305
VAR_035305 disease not phenotype-associated
VAR_035306 commonName VAR_035306
VAR_035306 disease not phenotype-associated
VAR_035307 commonName VAR_035307
VAR_035307 disease not phenotype-associated
VAR_035308 commonName VAR_035308
VAR_035308 disease not phenotype-associated
VAR_035309 commonName VAR_035309
VAR_035309 disease not phenotype-associated
VAR_035310 commonName VAR_035310
VAR_035310 disease not phenotype-associated
VAR_035311 commonName VAR_035311
VAR_035311 disease not phenotype-associated
VAR_035312 commonName VAR_035312
VAR_035312 disease not phenotype-associated
VAR_035313 commonName VAR_035313
VAR_035313 disease not phenotype-associated
VAR_035314 commonName VAR_035314
VAR_035314 disease not phenotype-associated
VAR_035315 commonName VAR_035315
VAR_035315 disease not phenotype-associated
VAR_035316 commonName VAR_035316
VAR_035316 disease not phenotype-associated
VAR_035322 commonName VAR_035322
VAR_035322 disease not phenotype-associated
VAR_035323 commonName VAR_035323
VAR_035323 disease not phenotype-associated
VAR_035324 commonName VAR_035324
VAR_035324 disease not phenotype-associated
VAR_035325 commonName VAR_035325
VAR_035325 disease not phenotype-associated
VAR_035326 commonName VAR_035326
VAR_035326 disease not phenotype-associated
VAR_035327 commonName VAR_035327
VAR_035327 disease not phenotype-associated
VAR_035328 commonName VAR_035328
VAR_035328 disease not phenotype-associated
VAR_035329 commonName VAR_035329
VAR_035329 disease not phenotype-associated
VAR_035331 commonName VAR_035331
VAR_035331 disease not phenotype-associated
VAR_035332 commonName VAR_035332
VAR_035332 disease not phenotype-associated
VAR_035333 commonName VAR_035333
VAR_035333 disease not phenotype-associated
VAR_035334 commonName VAR_035334
VAR_035334 disease not phenotype-associated
VAR_035335 commonName VAR_035335
VAR_035335 disease not phenotype-associated
VAR_035336 commonName VAR_035336
VAR_035336 disease not phenotype-associated
VAR_035337 commonName VAR_035337
VAR_035337 disease not phenotype-associated
VAR_035338 commonName VAR_035338
VAR_035338 disease not phenotype-associated
VAR_035339 commonName VAR_035339
VAR_035339 disease not phenotype-associated
VAR_035341 commonName VAR_035341
VAR_035341 disease not phenotype-associated
VAR_035342 commonName VAR_035342
VAR_035342 disease not phenotype-associated
VAR_035343 commonName VAR_035343
VAR_035343 disease not phenotype-associated
VAR_035344 commonName VAR_035344
VAR_035344 disease not phenotype-associated
VAR_035345 commonName VAR_035345
VAR_035345 disease not phenotype-associated
VAR_035347 commonName VAR_035347
VAR_035347 disease not phenotype-associated
VAR_035348 commonName VAR_035348
VAR_035348 disease not phenotype-associated
VAR_035349 commonName VAR_035349
VAR_035349 disease not phenotype-associated
VAR_035350 commonName VAR_035350
VAR_035350 disease not phenotype-associated
VAR_035351 commonName VAR_035351
VAR_035351 disease not phenotype-associated
VAR_035352 commonName VAR_035352
VAR_035352 disease not phenotype-associated
VAR_035356 commonName VAR_035356
VAR_035356 disease not phenotype-associated
VAR_035358 commonName VAR_035358
VAR_035358 disease not phenotype-associated
VAR_035359 commonName VAR_035359
VAR_035359 disease not phenotype-associated
VAR_035360 commonName VAR_035360
VAR_035360 disease not phenotype-associated
VAR_035361 commonName VAR_035361
VAR_035361 disease not phenotype-associated
VAR_035362 commonName VAR_035362
VAR_035362 disease not phenotype-associated
VAR_035363 commonName VAR_035363
VAR_035363 disease not phenotype-associated
VAR_035364 commonName VAR_035364
VAR_035364 disease not phenotype-associated
VAR_035365 commonName VAR_035365
VAR_035365 disease not phenotype-associated
VAR_035366 commonName VAR_035366
VAR_035366 disease not phenotype-associated
VAR_035367 commonName VAR_035367
VAR_035367 disease not phenotype-associated
VAR_035368 commonName VAR_035368
VAR_035368 disease not phenotype-associated
VAR_035369 commonName VAR_035369
VAR_035369 disease not phenotype-associated
VAR_035370 commonName VAR_035370
VAR_035370 disease not phenotype-associated
VAR_035371 commonName VAR_035371
VAR_035371 disease not phenotype-associated
VAR_035372 commonName VAR_035372
VAR_035372 disease not phenotype-associated
VAR_035373 commonName VAR_035373
VAR_035373 disease not phenotype-associated
VAR_035375 commonName VAR_035375
VAR_035375 disease not phenotype-associated
VAR_035376 commonName VAR_035376
VAR_035376 disease not phenotype-associated
VAR_035377 commonName VAR_035377
VAR_035377 disease not phenotype-associated
VAR_035378 commonName VAR_035378
VAR_035378 disease not phenotype-associated
VAR_035379 commonName VAR_035379
VAR_035379 disease not phenotype-associated
VAR_035380 commonName VAR_035380
VAR_035380 disease not phenotype-associated
VAR_035381 commonName VAR_035381
VAR_035381 disease not phenotype-associated
VAR_035382 commonName VAR_035382
VAR_035382 disease not phenotype-associated
VAR_035383 commonName VAR_035383
VAR_035383 disease not phenotype-associated
VAR_035384 commonName VAR_035384
VAR_035384 disease not phenotype-associated
VAR_035385 commonName VAR_035385
VAR_035385 disease not phenotype-associated
VAR_035386 commonName VAR_035386
VAR_035386 disease phenotype-associated
VAR_035386 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693]
VAR_035387 commonName VAR_035387
VAR_035387 disease not phenotype-associated
VAR_035389 commonName VAR_035389
VAR_035389 disease not phenotype-associated
VAR_035390 commonName VAR_035390
VAR_035390 disease not phenotype-associated
VAR_035391 commonName VAR_035391
VAR_035391 disease not phenotype-associated
VAR_035392 commonName VAR_035392
VAR_035392 disease not phenotype-associated
VAR_035393 commonName VAR_035393
VAR_035393 disease not phenotype-associated
VAR_035394 commonName VAR_035394
VAR_035394 disease not phenotype-associated
VAR_035395 commonName VAR_035395
VAR_035395 disease not phenotype-associated
VAR_035396 commonName VAR_035396
VAR_035396 disease not phenotype-associated
VAR_035397 commonName VAR_035397
VAR_035397 disease not phenotype-associated
VAR_035398 commonName VAR_035398
VAR_035398 disease not phenotype-associated
VAR_035399 commonName VAR_035399
VAR_035399 disease not phenotype-associated
VAR_035400 commonName VAR_035400
VAR_035400 disease not phenotype-associated
VAR_035401 commonName VAR_035401
VAR_035401 disease not phenotype-associated
VAR_035402 commonName VAR_035402
VAR_035402 disease not phenotype-associated
VAR_035403 commonName VAR_035403
VAR_035403 disease not phenotype-associated
VAR_035405 commonName VAR_035405
VAR_035405 disease not phenotype-associated
VAR_035406 commonName VAR_035406
VAR_035406 disease not phenotype-associated
VAR_035407 commonName VAR_035407
VAR_035407 disease not phenotype-associated
VAR_035408 commonName VAR_035408
VAR_035408 disease not phenotype-associated
VAR_035409 commonName VAR_035409
VAR_035409 disease not phenotype-associated
VAR_035410 commonName VAR_035410
VAR_035410 disease not phenotype-associated
VAR_035411 commonName VAR_035411
VAR_035411 disease not phenotype-associated
VAR_035412 commonName VAR_035412
VAR_035412 disease not phenotype-associated
VAR_035413 commonName VAR_035413
VAR_035413 disease not phenotype-associated
VAR_035414 commonName VAR_035414
VAR_035414 disease not phenotype-associated
VAR_035415 commonName VAR_035415
VAR_035415 disease not phenotype-associated
VAR_035416 commonName VAR_035416
VAR_035417 commonName VAR_035417
VAR_035417 disease not phenotype-associated
VAR_035418 commonName VAR_035418
VAR_035418 disease not phenotype-associated
VAR_035419 commonName VAR_035419
VAR_035419 disease not phenotype-associated
VAR_035420 commonName VAR_035420
VAR_035420 disease not phenotype-associated
VAR_035421 commonName VAR_035421
VAR_035421 disease not phenotype-associated
VAR_035431 commonName VAR_035431
VAR_035431 disease not phenotype-associated
VAR_035432 commonName VAR_035432
VAR_035432 disease not phenotype-associated
VAR_035433 commonName VAR_035433
VAR_035433 disease phenotype-associated
VAR_035433 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430]
VAR_035434 commonName VAR_035434
VAR_035434 disease not phenotype-associated
VAR_035435 commonName VAR_035435
VAR_035435 disease not phenotype-associated
VAR_035436 commonName VAR_035436
VAR_035436 disease not phenotype-associated
VAR_035437 commonName VAR_035437
VAR_035437 disease not phenotype-associated
VAR_035438 commonName VAR_035438
VAR_035438 disease phenotype-associated
VAR_035438 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_035439 commonName VAR_035439
VAR_035439 disease phenotype-associated
VAR_035439 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_035441 commonName VAR_035441
VAR_035441 disease not phenotype-associated
VAR_035442 commonName VAR_035442
VAR_035442 disease not phenotype-associated
VAR_035443 commonName VAR_035443
VAR_035443 disease not phenotype-associated
VAR_035444 comment A breast cancer sample
VAR_035444 commonName VAR_035444
VAR_035445 comment A breast cancer sample
VAR_035445 commonName VAR_035445
VAR_035446 comment A colorectal cancer sample
VAR_035446 commonName VAR_035446
VAR_035447 comment A colorectal cancer sample
VAR_035447 commonName VAR_035447
VAR_035450 comment A breast cancer sample
VAR_035450 commonName VAR_035450
VAR_035454 comment A breast cancer sample
VAR_035454 commonName VAR_035454
VAR_035455 comment A breast cancer sample
VAR_035455 commonName VAR_035455
VAR_035458 comment A colorectal cancer sample
VAR_035458 commonName VAR_035458
VAR_035459 comment A breast cancer sample
VAR_035459 commonName VAR_035459
VAR_035460 comment A colorectal cancer sample
VAR_035460 commonName VAR_035460
VAR_035461 comment A colorectal cancer sample
VAR_035461 commonName VAR_035461
VAR_035462 comment A breast cancer sample
VAR_035462 commonName VAR_035462
VAR_035463 comment A breast cancer sample
VAR_035463 commonName VAR_035463
VAR_035464 comment A breast cancer sample
VAR_035464 commonName VAR_035464
VAR_035465 comment A breast cancer sample
VAR_035465 commonName VAR_035465
VAR_035466 comment A colorectal cancer sample
VAR_035466 commonName VAR_035466
VAR_035468 comment A colorectal cancer sample
VAR_035468 commonName VAR_035468
VAR_035469 comment A colorectal cancer sample
VAR_035469 commonName VAR_035469
VAR_035470 comment A colorectal cancer sample
VAR_035470 commonName VAR_035470
VAR_035471 comment A colorectal cancer sample
VAR_035471 commonName VAR_035471
VAR_035472 comment A colorectal cancer sample
VAR_035472 commonName VAR_035472
VAR_035474 comment A breast cancer sample
VAR_035474 commonName VAR_035474
VAR_035475 comment A breast cancer sample
VAR_035475 commonName VAR_035475
VAR_035476 comment A breast cancer sample
VAR_035476 commonName VAR_035476
VAR_035477 comment A breast cancer sample
VAR_035477 commonName VAR_035477
VAR_035478 comment A colorectal cancer sample
VAR_035478 commonName VAR_035478
VAR_035479 comment A breast cancer sample
VAR_035479 commonName VAR_035479
VAR_035480 comment A breast cancer sample
VAR_035480 commonName VAR_035480
VAR_035481 comment A breast cancer sample
VAR_035481 commonName VAR_035481
VAR_035482 comment A breast cancer sample
VAR_035482 commonName VAR_035482
VAR_035483 comment A breast cancer sample
VAR_035483 commonName VAR_035483
VAR_035484 comment A breast cancer sample
VAR_035484 commonName VAR_035484
VAR_035485 comment A breast cancer sample
VAR_035485 commonName VAR_035485
VAR_035486 comment A colorectal cancer sample
VAR_035486 commonName VAR_035486
VAR_035487 comment A colorectal cancer sample
VAR_035487 commonName VAR_035487
VAR_035488 comment A breast cancer sample
VAR_035488 commonName VAR_035488
VAR_035489 comment A colorectal cancer sample
VAR_035489 commonName VAR_035489
VAR_035490 comment A breast cancer sample
VAR_035490 commonName VAR_035490
VAR_035491 comment A breast cancer sample
VAR_035491 commonName VAR_035491
VAR_035492 comment A breast cancer sample
VAR_035492 commonName VAR_035492
VAR_035493 comment A breast cancer sample
VAR_035493 commonName VAR_035493
VAR_035494 comment A breast cancer sample
VAR_035494 commonName VAR_035494
VAR_035495 comment A breast cancer sample
VAR_035495 commonName VAR_035495
VAR_035496 comment A colorectal cancer sample
VAR_035496 commonName VAR_035496
VAR_035497 comment A colorectal cancer sample
VAR_035497 commonName VAR_035497
VAR_035498 comment A colorectal cancer sample
VAR_035498 commonName VAR_035498
VAR_035499 comment A colorectal cancer sample
VAR_035499 commonName VAR_035499
VAR_035500 comment A breast cancer sample
VAR_035500 commonName VAR_035500
VAR_035502 comment A breast cancer sample
VAR_035502 commonName VAR_035502
VAR_035503 comment A breast cancer sample
VAR_035503 commonName VAR_035503
VAR_035504 comment A breast cancer sample
VAR_035504 commonName VAR_035504
VAR_035505 comment A colorectal cancer sample
VAR_035505 commonName VAR_035505
VAR_035506 comment A colorectal cancer sample
VAR_035506 commonName VAR_035506
VAR_035507 comment A colorectal cancer sample
VAR_035507 commonName VAR_035507
VAR_035508 comment A colorectal cancer sample
VAR_035508 commonName VAR_035508
VAR_035509 comment A breast cancer sample
VAR_035509 commonName VAR_035509
VAR_035510 comment A breast cancer sample
VAR_035510 commonName VAR_035510
VAR_035511 comment A colorectal cancer sample
VAR_035511 commonName VAR_035511
VAR_035512 comment A colorectal cancer sample
VAR_035512 commonName VAR_035512
VAR_035513 comment A colorectal cancer sample
VAR_035513 commonName VAR_035513
VAR_035514 comment A breast cancer sample
VAR_035514 commonName VAR_035514
VAR_035515 comment A breast cancer sample
VAR_035515 commonName VAR_035515
VAR_035516 comment A breast cancer sample
VAR_035516 commonName VAR_035516
VAR_035517 comment A breast cancer sample
VAR_035517 commonName VAR_035517
VAR_035519 comment A colorectal cancer sample
VAR_035519 commonName VAR_035519
VAR_035520 comment A colorectal cancer sample
VAR_035520 commonName VAR_035520
VAR_035521 comment A colorectal cancer sample
VAR_035521 commonName VAR_035521
VAR_035522 comment A colorectal cancer sample
VAR_035522 commonName VAR_035522
VAR_035523 comment A colorectal cancer sample
VAR_035523 commonName VAR_035523
VAR_035524 comment A breast cancer sample
VAR_035524 commonName VAR_035524
VAR_035525 comment A breast cancer sample
VAR_035525 commonName VAR_035525
VAR_035526 comment A breast cancer sample
VAR_035526 commonName VAR_035526
VAR_035527 comment A colorectal cancer sample
VAR_035527 commonName VAR_035527
VAR_035528 comment A breast cancer sample
VAR_035528 commonName VAR_035528
VAR_035529 comment A breast cancer sample
VAR_035529 commonName VAR_035529
VAR_035530 comment A colorectal cancer sample
VAR_035530 commonName VAR_035530
VAR_035531 comment A colorectal cancer sample
VAR_035531 commonName VAR_035531
VAR_035532 comment A colorectal cancer sample
VAR_035532 commonName VAR_035532
VAR_035533 comment A colorectal cancer sample
VAR_035533 commonName VAR_035533
VAR_035534 comment A breast cancer sample
VAR_035534 commonName VAR_035534
VAR_035535 comment A colorectal cancer sample
VAR_035535 commonName VAR_035535
VAR_035536 comment A colorectal cancer sample
VAR_035536 commonName VAR_035536
VAR_035537 comment A breast cancer sample
VAR_035537 commonName VAR_035537
VAR_035538 comment A breast cancer sample
VAR_035538 commonName VAR_035538
VAR_035539 comment A colorectal cancer sample
VAR_035539 commonName VAR_035539
VAR_035540 comment A breast cancer sample
VAR_035540 commonName VAR_035540
VAR_035541 comment A colorectal cancer sample
VAR_035541 commonName VAR_035541
VAR_035542 comment A breast cancer sample
VAR_035542 commonName VAR_035542
VAR_035543 comment A colorectal cancer sample
VAR_035543 commonName VAR_035543
VAR_035544 comment A colorectal cancer sample
VAR_035544 commonName VAR_035544
VAR_035545 comment A breast cancer sample
VAR_035545 commonName VAR_035545
VAR_035546 comment A breast cancer sample
VAR_035546 commonName VAR_035546
VAR_035547 comment A breast cancer sample
VAR_035547 commonName VAR_035547
VAR_035548 comment A breast cancer sample
VAR_035548 commonName VAR_035548
VAR_035549 comment A breast cancer sample
VAR_035549 commonName VAR_035549
VAR_035550 comment A breast cancer sample
VAR_035550 commonName VAR_035550
VAR_035551 comment A breast cancer sample
VAR_035551 commonName VAR_035551
VAR_035552 comment A colorectal cancer sample
VAR_035552 commonName VAR_035552
VAR_035553 comment A breast cancer sample
VAR_035553 commonName VAR_035553
VAR_035554 comment A colorectal cancer sample
VAR_035554 commonName VAR_035554
VAR_035555 comment A colorectal cancer sample
VAR_035555 commonName VAR_035555
VAR_035556 comment A colorectal cancer sample
VAR_035556 commonName VAR_035556
VAR_035557 comment A breast cancer sample
VAR_035557 commonName VAR_035557
VAR_035558 comment A breast cancer sample
VAR_035558 commonName VAR_035558
VAR_035559 comment A breast cancer sample
VAR_035559 commonName VAR_035559
VAR_035560 comment A colorectal cancer sample
VAR_035560 commonName VAR_035560
VAR_035561 comment A colorectal cancer sample
VAR_035561 commonName VAR_035561
VAR_035562 comment A colorectal cancer sample
VAR_035562 commonName VAR_035562
VAR_035563 comment A colorectal cancer sample
VAR_035563 commonName VAR_035563
VAR_035564 comment A breast cancer sample
VAR_035564 commonName VAR_035564
VAR_035565 comment A breast cancer sample
VAR_035565 commonName VAR_035565
VAR_035566 comment A breast cancer sample
VAR_035566 commonName VAR_035566
VAR_035567 comment A breast cancer sample
VAR_035567 commonName VAR_035567
VAR_035568 comment A breast cancer sample
VAR_035568 commonName VAR_035568
VAR_035569 comment A colorectal cancer sample
VAR_035569 commonName VAR_035569
VAR_035570 comment A breast cancer sample
VAR_035570 commonName VAR_035570
VAR_035571 comment A colorectal cancer sample
VAR_035571 commonName VAR_035571
VAR_035572 comment A colorectal cancer sample
VAR_035572 commonName VAR_035572
VAR_035573 comment A colorectal cancer sample
VAR_035573 commonName VAR_035573
VAR_035574 comment A breast cancer sample
VAR_035574 commonName VAR_035574
VAR_035576 comment A breast cancer sample
VAR_035576 commonName VAR_035576
VAR_035577 comment A breast cancer sample
VAR_035577 commonName VAR_035577
VAR_035578 comment A breast cancer sample
VAR_035578 commonName VAR_035578
VAR_035579 comment A breast cancer sample
VAR_035579 commonName VAR_035579
VAR_035580 comment A breast cancer sample
VAR_035580 commonName VAR_035580
VAR_035581 comment A colorectal cancer sample
VAR_035581 commonName VAR_035581
VAR_035582 comment A colorectal cancer sample
VAR_035582 commonName VAR_035582
VAR_035583 comment A colorectal cancer sample
VAR_035583 commonName VAR_035583
VAR_035584 comment A colorectal cancer sample
VAR_035584 commonName VAR_035584
VAR_035585 comment A breast cancer sample
VAR_035585 commonName VAR_035585
VAR_035586 comment A colorectal cancer sample
VAR_035586 commonName VAR_035586
VAR_035587 comment A breast cancer sample
VAR_035587 commonName VAR_035587
VAR_035588 comment A colorectal cancer sample
VAR_035588 commonName VAR_035588
VAR_035589 comment A breast cancer sample
VAR_035589 commonName VAR_035589
VAR_035590 comment A breast cancer sample
VAR_035590 commonName VAR_035590
VAR_035591 comment A colorectal cancer sample
VAR_035591 commonName VAR_035591
VAR_035592 comment A colorectal cancer sample
VAR_035592 commonName VAR_035592
VAR_035593 comment A breast cancer sample
VAR_035593 commonName VAR_035593
VAR_035594 comment A breast cancer sample
VAR_035594 commonName VAR_035594
VAR_035595 comment A breast cancer sample
VAR_035595 commonName VAR_035595
VAR_035596 comment A breast cancer sample
VAR_035596 commonName VAR_035596
VAR_035597 comment A breast cancer sample
VAR_035597 commonName VAR_035597
VAR_035598 comment A breast cancer sample
VAR_035598 commonName VAR_035598
VAR_035599 comment A colorectal cancer sample
VAR_035599 commonName VAR_035599
VAR_035600 comment A breast cancer sample
VAR_035600 commonName VAR_035600
VAR_035601 comment A breast cancer sample
VAR_035601 commonName VAR_035601
VAR_035602 comment A colorectal cancer sample
VAR_035602 commonName VAR_035602
VAR_035603 comment A colorectal cancer sample
VAR_035603 commonName VAR_035603
VAR_035604 comment A colorectal cancer sample
VAR_035604 commonName VAR_035604
VAR_035605 comment A breast cancer sample
VAR_035605 commonName VAR_035605
VAR_035610 comment A breast cancer sample
VAR_035610 commonName VAR_035610
VAR_035611 comment A breast cancer sample
VAR_035611 commonName VAR_035611
VAR_035612 comment A colorectal cancer sample
VAR_035612 commonName VAR_035612
VAR_035613 comment A colorectal cancer sample
VAR_035613 commonName VAR_035613
VAR_035614 comment A breast cancer sample
VAR_035614 commonName VAR_035614
VAR_035615 comment A breast cancer sample
VAR_035615 commonName VAR_035615
VAR_035616 comment A colorectal cancer sample
VAR_035616 commonName VAR_035616
VAR_035618 comment A breast cancer sample
VAR_035618 commonName VAR_035618
VAR_035619 comment A breast cancer sample
VAR_035619 commonName VAR_035619
VAR_035620 comment A colorectal cancer sample
VAR_035620 commonName VAR_035620
VAR_035621 comment A breast cancer sample
VAR_035621 commonName VAR_035621
VAR_035622 comment A breast cancer sample
VAR_035622 commonName VAR_035622
VAR_035623 comment Breast cancer samples
VAR_035623 commonName VAR_035623
VAR_035624 comment A breast cancer sample
VAR_035624 commonName VAR_035624
VAR_035625 comment A breast cancer sample
VAR_035625 commonName VAR_035625
VAR_035626 comment Breast cancer samples
VAR_035626 commonName VAR_035626
VAR_035627 comment A breast cancer sample
VAR_035627 commonName VAR_035627
VAR_035628 comment A colorectal cancer sample
VAR_035628 commonName VAR_035628
VAR_035629 comment A breast cancer sample
VAR_035629 commonName VAR_035629
VAR_035630 comment A colorectal cancer sample
VAR_035630 commonName VAR_035630
VAR_035631 comment A colorectal cancer sample
VAR_035631 commonName VAR_035631
VAR_035632 comment A breast cancer sample
VAR_035632 commonName VAR_035632
VAR_035633 comment A breast cancer sample
VAR_035633 commonName VAR_035633
VAR_035634 comment A breast cancer sample
VAR_035634 commonName VAR_035634
VAR_035635 comment A breast cancer sample
VAR_035635 commonName VAR_035635
VAR_035636 comment A breast cancer sample
VAR_035636 commonName VAR_035636
VAR_035639 comment A colorectal cancer sample
VAR_035639 commonName VAR_035639
VAR_035640 comment A colorectal cancer sample
VAR_035640 commonName VAR_035640
VAR_035641 comment Breast cancer samples
VAR_035641 commonName VAR_035641
VAR_035642 comment A breast cancer sample
VAR_035642 commonName VAR_035642
VAR_035643 comment A breast cancer sample
VAR_035643 commonName VAR_035643
VAR_035644 comment A colorectal cancer sample
VAR_035644 commonName VAR_035644
VAR_035645 comment A colorectal cancer sample
VAR_035645 commonName VAR_035645
VAR_035646 comment A colorectal cancer sample
VAR_035646 commonName VAR_035646
VAR_035647 comment A colorectal cancer sample
VAR_035647 commonName VAR_035647
VAR_035648 comment A colorectal cancer sample
VAR_035648 commonName VAR_035648
VAR_035649 comment A colorectal cancer sample
VAR_035649 commonName VAR_035649
VAR_035650 comment A colorectal cancer sample
VAR_035650 commonName VAR_035650
VAR_035651 comment A colorectal cancer sample
VAR_035651 commonName VAR_035651
VAR_035652 comment A colorectal cancer sample
VAR_035652 commonName VAR_035652
VAR_035653 comment A breast cancer sample
VAR_035653 commonName VAR_035653
VAR_035654 comment A breast cancer sample
VAR_035654 commonName VAR_035654
VAR_035655 comment A colorectal cancer sample
VAR_035655 commonName VAR_035655
VAR_035656 comment A breast cancer sample
VAR_035656 commonName VAR_035656
VAR_035657 comment A colorectal cancer sample
VAR_035657 commonName VAR_035657
VAR_035658 comment A colorectal cancer sample
VAR_035658 commonName VAR_035658
VAR_035659 comment A breast cancer sample
VAR_035659 commonName VAR_035659
VAR_035660 comment A breast cancer sample
VAR_035660 commonName VAR_035660
VAR_035661 comment A breast cancer sample
VAR_035661 commonName VAR_035661
VAR_035662 comment A breast cancer sample
VAR_035662 commonName VAR_035662
VAR_035663 comment A breast cancer sample
VAR_035663 commonName VAR_035663
VAR_035664 comment A colorectal cancer sample
VAR_035664 commonName VAR_035664
VAR_035665 comment A breast cancer sample
VAR_035665 commonName VAR_035665
VAR_035666 comment A colorectal cancer sample
VAR_035666 commonName VAR_035666
VAR_035667 comment A breast cancer sample
VAR_035667 commonName VAR_035667
VAR_035668 comment A colorectal cancer sample
VAR_035668 commonName VAR_035668
VAR_035669 comment A breast cancer sample
VAR_035669 commonName VAR_035669
VAR_035670 comment A colorectal cancer sample
VAR_035670 commonName VAR_035670
VAR_035671 comment A colorectal cancer sample
VAR_035671 commonName VAR_035671
VAR_035673 comment A colorectal cancer sample
VAR_035673 commonName VAR_035673
VAR_035674 comment A breast cancer sample
VAR_035674 commonName VAR_035674
VAR_035675 comment A colorectal cancer sample
VAR_035675 commonName VAR_035675
VAR_035677 comment A colorectal cancer sample
VAR_035677 commonName VAR_035677
VAR_035678 comment A breast cancer sample
VAR_035678 commonName VAR_035678
VAR_035679 comment A breast cancer sample
VAR_035679 commonName VAR_035679
VAR_035680 comment A breast cancer sample
VAR_035680 commonName VAR_035680
VAR_035681 comment A colorectal cancer sample
VAR_035681 commonName VAR_035681
VAR_035682 comment A colorectal cancer sample
VAR_035682 commonName VAR_035682
VAR_035683 comment A colorectal cancer sample
VAR_035683 commonName VAR_035683
VAR_035684 comment A breast cancer sample
VAR_035684 commonName VAR_035684
VAR_035685 comment A breast cancer sample
VAR_035685 commonName VAR_035685
VAR_035686 comment A breast cancer sample
VAR_035686 commonName VAR_035686
VAR_035687 comment A breast cancer sample
VAR_035687 commonName VAR_035687
VAR_035688 comment A colorectal cancer sample
VAR_035688 commonName VAR_035688
VAR_035689 comment A colorectal cancer sample
VAR_035689 commonName VAR_035689
VAR_035690 comment A colorectal cancer sample
VAR_035690 commonName VAR_035690
VAR_035691 comment A breast cancer sample
VAR_035691 commonName VAR_035691
VAR_035694 comment A breast cancer sample
VAR_035694 commonName VAR_035694
VAR_035695 comment A colorectal cancer sample
VAR_035695 commonName VAR_035695
VAR_035696 comment A breast cancer sample
VAR_035696 commonName VAR_035696
VAR_035697 comment A colorectal cancer sample
VAR_035697 commonName VAR_035697
VAR_035698 comment A breast cancer sample
VAR_035698 commonName VAR_035698
VAR_035699 comment A breast cancer sample
VAR_035699 commonName VAR_035699
VAR_035700 comment A breast cancer sample
VAR_035700 commonName VAR_035700
VAR_035701 comment A colorectal cancer sample
VAR_035701 commonName VAR_035701
VAR_035702 comment A breast cancer sample
VAR_035702 commonName VAR_035702
VAR_035703 comment A breast cancer sample
VAR_035703 commonName VAR_035703
VAR_035704 comment A breast cancer sample
VAR_035704 commonName VAR_035704
VAR_035705 comment A breast cancer sample
VAR_035705 commonName VAR_035705
VAR_035706 comment A breast cancer sample
VAR_035706 commonName VAR_035706
VAR_035707 comment A colorectal cancer sample
VAR_035707 commonName VAR_035707
VAR_035708 comment A colorectal cancer sample
VAR_035708 commonName VAR_035708
VAR_035709 comment A breast cancer sample
VAR_035709 commonName VAR_035709
VAR_035710 comment A breast cancer sample
VAR_035710 commonName VAR_035710
VAR_035711 commonName VAR_035711
VAR_035711 disease phenotype-associated
VAR_035711 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_035712 comment A colorectal cancer sample
VAR_035712 commonName VAR_035712
VAR_035713 comment A breast cancer sample
VAR_035713 commonName VAR_035713
VAR_035714 comment Breast cancer samples
VAR_035714 commonName VAR_035714
VAR_035715 comment A breast cancer sample
VAR_035715 commonName VAR_035715
VAR_035716 comment A breast cancer sample
VAR_035716 commonName VAR_035716
VAR_035717 comment A breast cancer sample
VAR_035717 commonName VAR_035717
VAR_035718 comment A colorectal cancer sample
VAR_035718 commonName VAR_035718
VAR_035719 comment A colorectal cancer sample
VAR_035719 commonName VAR_035719
VAR_035720 comment A breast cancer sample
VAR_035720 commonName VAR_035720
VAR_035721 comment A colorectal cancer sample
VAR_035721 commonName VAR_035721
VAR_035722 comment A colorectal cancer sample
VAR_035722 commonName VAR_035722
VAR_035724 comment A colorectal cancer sample
VAR_035724 commonName VAR_035724
VAR_035725 comment A colorectal cancer sample
VAR_035725 commonName VAR_035725
VAR_035726 comment A colorectal cancer sample
VAR_035726 commonName VAR_035726
VAR_035727 comment A colorectal cancer sample
VAR_035727 commonName VAR_035727
VAR_035728 comment A breast cancer sample
VAR_035728 commonName VAR_035728
VAR_035729 comment A breast cancer sample
VAR_035729 commonName VAR_035729
VAR_035731 comment A colorectal cancer sample
VAR_035731 commonName VAR_035731
VAR_035732 comment A breast cancer sample
VAR_035732 commonName VAR_035732
VAR_035733 comment A breast cancer sample
VAR_035733 commonName VAR_035733
VAR_035735 comment A breast cancer sample
VAR_035735 commonName VAR_035735
VAR_035736 comment A breast cancer sample
VAR_035736 commonName VAR_035736
VAR_035737 comment A colorectal cancer sample
VAR_035737 commonName VAR_035737
VAR_035738 comment A colorectal cancer sample
VAR_035738 commonName VAR_035738
VAR_035739 comment A colorectal cancer sample
VAR_035739 commonName VAR_035739
VAR_035740 comment A breast cancer sample
VAR_035740 commonName VAR_035740
VAR_035741 comment A breast cancer sample
VAR_035741 commonName VAR_035741
VAR_035742 comment A breast cancer sample
VAR_035742 commonName VAR_035742
VAR_035743 comment A breast cancer sample
VAR_035743 commonName VAR_035743
VAR_035744 comment A breast cancer sample
VAR_035744 commonName VAR_035744
VAR_035745 comment A breast cancer sample
VAR_035745 commonName VAR_035745
VAR_035746 comment A breast cancer sample
VAR_035746 commonName VAR_035746
VAR_035748 comment A colorectal cancer sample
VAR_035748 commonName VAR_035748
VAR_035749 comment A breast cancer sample
VAR_035749 commonName VAR_035749
VAR_035750 comment A breast cancer sample
VAR_035750 commonName VAR_035750
VAR_035752 comment A colorectal cancer sample
VAR_035752 commonName VAR_035752
VAR_035753 comment A colorectal cancer sample
VAR_035753 commonName VAR_035753
VAR_035754 comment A colorectal cancer sample
VAR_035754 commonName VAR_035754
VAR_035755 comment A colorectal cancer sample
VAR_035755 commonName VAR_035755
VAR_035756 comment A breast cancer sample
VAR_035756 commonName VAR_035756
VAR_035757 comment A breast cancer sample
VAR_035757 commonName VAR_035757
VAR_035758 comment A breast cancer sample
VAR_035758 commonName VAR_035758
VAR_035759 comment A breast cancer sample
VAR_035759 commonName VAR_035759
VAR_035760 comment A colorectal cancer sample
VAR_035760 commonName VAR_035760
VAR_035761 comment A colorectal cancer sample
VAR_035761 commonName VAR_035761
VAR_035762 comment A colorectal cancer sample
VAR_035762 commonName VAR_035762
VAR_035763 comment A colorectal cancer sample
VAR_035763 commonName VAR_035763
VAR_035764 comment A breast cancer sample
VAR_035764 commonName VAR_035764
VAR_035765 comment A breast cancer sample
VAR_035765 commonName VAR_035765
VAR_035766 comment A colorectal cancer sample
VAR_035766 commonName VAR_035766
VAR_035767 comment A colorectal cancer sample
VAR_035767 commonName VAR_035767
VAR_035768 comment A breast cancer sample
VAR_035768 commonName VAR_035768
VAR_035769 comment A breast cancer sample
VAR_035769 commonName VAR_035769
VAR_035770 comment A breast cancer sample
VAR_035770 commonName VAR_035770
VAR_035771 comment A colorectal cancer sample
VAR_035771 commonName VAR_035771
VAR_035772 comment A colorectal cancer sample
VAR_035772 commonName VAR_035772
VAR_035773 comment A colorectal cancer sample
VAR_035773 commonName VAR_035773
VAR_035774 comment A colorectal cancer sample
VAR_035774 commonName VAR_035774
VAR_035775 comment A colorectal cancer sample
VAR_035775 commonName VAR_035775
VAR_035776 comment A colorectal cancer sample
VAR_035776 commonName VAR_035776
VAR_035780 comment A colorectal cancer sample
VAR_035780 commonName VAR_035780
VAR_035781 comment A breast cancer sample
VAR_035781 commonName VAR_035781
VAR_035782 comment A breast cancer sample
VAR_035782 commonName VAR_035782
VAR_035783 comment A breast cancer sample
VAR_035783 commonName VAR_035783
VAR_035784 comment A colorectal cancer sample
VAR_035784 commonName VAR_035784
VAR_035787 comment A colorectal cancer sample
VAR_035787 commonName VAR_035787
VAR_035790 comment A breast cancer sample
VAR_035790 commonName VAR_035790
VAR_035791 comment A colorectal cancer sample
VAR_035791 commonName VAR_035791
VAR_035792 comment A colorectal cancer sample
VAR_035792 commonName VAR_035792
VAR_035793 comment A breast cancer sample
VAR_035793 commonName VAR_035793
VAR_035794 comment A colorectal cancer sample
VAR_035794 commonName VAR_035794
VAR_035798 comment A breast cancer sample
VAR_035798 commonName VAR_035798
VAR_035799 comment A colorectal cancer sample
VAR_035799 commonName VAR_035799
VAR_035800 commonName VAR_035800
VAR_035802 comment A breast cancer sample
VAR_035802 commonName VAR_035802
VAR_035804 comment A breast cancer sample
VAR_035804 commonName VAR_035804
VAR_035805 comment A breast cancer sample
VAR_035805 commonName VAR_035805
VAR_035806 comment A colorectal cancer sample
VAR_035806 commonName VAR_035806
VAR_035807 comment A colorectal cancer sample
VAR_035807 commonName VAR_035807
VAR_035809 comment A colorectal cancer sample
VAR_035809 commonName VAR_035809
VAR_035810 comment A colorectal cancer sample
VAR_035810 commonName VAR_035810
VAR_035811 comment A colorectal cancer sample
VAR_035811 commonName VAR_035811
VAR_035812 comment A colorectal cancer sample
VAR_035812 commonName VAR_035812
VAR_035813 comment A breast cancer sample
VAR_035813 commonName VAR_035813
VAR_035814 comment A breast cancer sample
VAR_035814 commonName VAR_035814
VAR_035815 comment A colorectal cancer sample
VAR_035815 commonName VAR_035815
VAR_035816 comment A breast cancer sample
VAR_035816 commonName VAR_035816
VAR_035817 comment A colorectal cancer sample
VAR_035817 commonName VAR_035817
VAR_035818 comment A breast cancer sample
VAR_035818 commonName VAR_035818
VAR_035819 comment A breast cancer sample
VAR_035819 commonName VAR_035819
VAR_035820 comment A colorectal cancer sample
VAR_035820 commonName VAR_035820
VAR_035821 comment A colorectal cancer sample
VAR_035821 commonName VAR_035821
VAR_035822 comment A colorectal cancer sample
VAR_035822 commonName VAR_035822
VAR_035823 comment A breast cancer sample
VAR_035823 commonName VAR_035823
VAR_035824 comment A breast cancer sample
VAR_035824 commonName VAR_035824
VAR_035825 comment A colorectal cancer sample
VAR_035825 commonName VAR_035825
VAR_035826 comment A breast cancer sample
VAR_035826 commonName VAR_035826
VAR_035827 comment A breast cancer sample
VAR_035827 commonName VAR_035827
VAR_035828 comment A colorectal cancer sample
VAR_035828 commonName VAR_035828
VAR_035829 comment A breast cancer sample
VAR_035829 commonName VAR_035829
VAR_035830 comment A colorectal cancer sample
VAR_035830 commonName VAR_035830
VAR_035831 comment A breast cancer sample
VAR_035831 commonName VAR_035831
VAR_035832 comment A breast cancer sample
VAR_035832 commonName VAR_035832
VAR_035833 comment A breast cancer sample
VAR_035833 commonName VAR_035833
VAR_035834 comment A colorectal cancer sample
VAR_035834 commonName VAR_035834
VAR_035835 comment A colorectal cancer sample
VAR_035835 commonName VAR_035835
VAR_035838 comment A breast cancer sample
VAR_035838 commonName VAR_035838
VAR_035839 comment A breast cancer sample
VAR_035839 commonName VAR_035839
VAR_035840 comment A breast cancer sample
VAR_035840 commonName VAR_035840
VAR_035841 comment A breast cancer sample
VAR_035841 commonName VAR_035841
VAR_035842 comment A breast cancer sample
VAR_035842 commonName VAR_035842
VAR_035843 comment A breast cancer sample
VAR_035843 commonName VAR_035843
VAR_035845 comment A breast cancer sample
VAR_035845 commonName VAR_035845
VAR_035847 comment A breast cancer sample
VAR_035847 commonName VAR_035847
VAR_035848 comment A breast cancer sample
VAR_035848 commonName VAR_035848
VAR_035849 comment A breast cancer sample
VAR_035849 commonName VAR_035849
VAR_035850 comment A breast cancer sample
VAR_035850 commonName VAR_035850
VAR_035851 comment A breast cancer sample
VAR_035851 commonName VAR_035851
VAR_035852 comment A breast cancer sample
VAR_035852 commonName VAR_035852
VAR_035853 comment A colorectal cancer sample
VAR_035853 commonName VAR_035853
VAR_035854 comment A breast cancer sample
VAR_035854 commonName VAR_035854
VAR_035855 comment A breast cancer sample
VAR_035855 commonName VAR_035855
VAR_035856 comment A breast cancer sample
VAR_035856 commonName VAR_035856
VAR_035857 comment A breast cancer sample
VAR_035857 commonName VAR_035857
VAR_035858 comment A breast cancer sample
VAR_035858 commonName VAR_035858
VAR_035860 comment A breast cancer sample
VAR_035860 commonName VAR_035860
VAR_035861 comment A breast cancer sample
VAR_035861 commonName VAR_035861
VAR_035862 comment A colorectal cancer sample
VAR_035862 commonName VAR_035862
VAR_035863 comment A colorectal cancer sample
VAR_035863 commonName VAR_035863
VAR_035865 comment A colorectal cancer sample
VAR_035865 commonName VAR_035865
VAR_035866 comment A colorectal cancer sample
VAR_035866 commonName VAR_035866
VAR_035867 comment A colorectal cancer sample
VAR_035867 commonName VAR_035867
VAR_035869 comment A breast cancer sample
VAR_035869 commonName VAR_035869
VAR_035870 comment A breast cancer sample
VAR_035870 commonName VAR_035870
VAR_035871 comment A colorectal cancer sample
VAR_035871 commonName VAR_035871
VAR_035872 comment A breast cancer sample
VAR_035872 commonName VAR_035872
VAR_035873 comment A breast cancer sample
VAR_035873 commonName VAR_035873
VAR_035874 comment A colorectal cancer sample
VAR_035874 commonName VAR_035874
VAR_035875 comment A breast cancer sample
VAR_035875 commonName VAR_035875
VAR_035876 comment A breast cancer sample
VAR_035876 commonName VAR_035876
VAR_035877 comment A colorectal cancer sample
VAR_035877 commonName VAR_035877
VAR_035879 comment A colorectal cancer sample
VAR_035879 commonName VAR_035879
VAR_035880 comment A colorectal cancer sample
VAR_035880 commonName VAR_035880
VAR_035881 comment A colorectal cancer sample
VAR_035881 commonName VAR_035881
VAR_035882 comment A breast cancer sample
VAR_035882 commonName VAR_035882
VAR_035883 comment A breast cancer sample
VAR_035883 commonName VAR_035883
VAR_035884 comment A breast cancer sample
VAR_035884 commonName VAR_035884
VAR_035885 comment A breast cancer sample
VAR_035885 commonName VAR_035885
VAR_035886 comment A breast cancer sample
VAR_035886 commonName VAR_035886
VAR_035887 comment A breast cancer sample
VAR_035887 commonName VAR_035887
VAR_035888 comment A breast cancer sample
VAR_035888 commonName VAR_035888
VAR_035889 comment A colorectal cancer sample
VAR_035889 commonName VAR_035889
VAR_035890 comment A breast cancer sample
VAR_035890 commonName VAR_035890
VAR_035891 comment A breast cancer sample
VAR_035891 commonName VAR_035891
VAR_035892 comment A breast cancer sample
VAR_035892 commonName VAR_035892
VAR_035893 comment A breast cancer sample
VAR_035893 commonName VAR_035893
VAR_035894 comment A breast cancer sample
VAR_035894 commonName VAR_035894
VAR_035895 comment A breast cancer sample
VAR_035895 commonName VAR_035895
VAR_035896 comment A breast cancer sample
VAR_035896 commonName VAR_035896
VAR_035897 comment A colorectal cancer sample
VAR_035897 commonName VAR_035897
VAR_035898 comment A colorectal cancer sample
VAR_035898 commonName VAR_035898
VAR_035899 comment A breast cancer sample
VAR_035899 commonName VAR_035899
VAR_035900 comment A breast cancer sample
VAR_035900 commonName VAR_035900
VAR_035901 comment A colorectal cancer sample
VAR_035901 commonName VAR_035901
VAR_035902 comment A breast cancer sample
VAR_035902 commonName VAR_035902
VAR_035903 comment A colorectal cancer sample
VAR_035903 commonName VAR_035903
VAR_035904 comment A colorectal cancer sample
VAR_035904 commonName VAR_035904
VAR_035905 comment A breast cancer sample
VAR_035905 commonName VAR_035905
VAR_035906 comment A colorectal cancer sample
VAR_035906 commonName VAR_035906
VAR_035907 comment A breast cancer sample
VAR_035907 commonName VAR_035907
VAR_035908 comment A breast cancer sample
VAR_035908 commonName VAR_035908
VAR_035909 comment A breast cancer sample
VAR_035909 commonName VAR_035909
VAR_035910 comment A breast cancer sample
VAR_035910 commonName VAR_035910
VAR_035912 comment A colorectal cancer sample
VAR_035912 commonName VAR_035912
VAR_035913 comment A breast cancer sample
VAR_035913 commonName VAR_035913
VAR_035914 comment A colorectal cancer sample
VAR_035914 commonName VAR_035914
VAR_035915 comment A colorectal cancer sample
VAR_035915 commonName VAR_035915
VAR_035916 comment A colorectal cancer sample
VAR_035916 commonName VAR_035916
VAR_035917 comment A breast cancer sample
VAR_035917 commonName VAR_035917
VAR_035918 comment A breast cancer sample
VAR_035918 commonName VAR_035918
VAR_035919 comment A breast cancer sample
VAR_035919 commonName VAR_035919
VAR_035920 comment A breast cancer sample
VAR_035920 commonName VAR_035920
VAR_035921 comment A breast cancer sample
VAR_035921 commonName VAR_035921
VAR_035922 comment A breast cancer sample
VAR_035922 commonName VAR_035922
VAR_035923 comment A breast cancer sample
VAR_035923 commonName VAR_035923
VAR_035925 comment A breast cancer sample
VAR_035925 commonName VAR_035925
VAR_035926 comment A colorectal cancer sample
VAR_035926 commonName VAR_035926
VAR_035927 comment A colorectal cancer sample
VAR_035927 commonName VAR_035927
VAR_035928 comment A colorectal cancer sample
VAR_035928 commonName VAR_035928
VAR_035929 comment A colorectal cancer sample
VAR_035929 commonName VAR_035929
VAR_035930 comment A colorectal cancer sample
VAR_035930 commonName VAR_035930
VAR_035931 comment A breast cancer sample
VAR_035931 commonName VAR_035931
VAR_035932 comment A breast cancer sample
VAR_035932 commonName VAR_035932
VAR_035933 comment A colorectal cancer sample
VAR_035933 commonName VAR_035933
VAR_035935 comment A colorectal cancer sample
VAR_035935 commonName VAR_035935
VAR_035936 comment A breast cancer sample
VAR_035936 commonName VAR_035936
VAR_035937 comment A breast cancer sample
VAR_035937 commonName VAR_035937
VAR_035938 comment A breast cancer sample
VAR_035938 commonName VAR_035938
VAR_035939 comment A colorectal cancer sample
VAR_035939 commonName VAR_035939
VAR_035940 comment A breast cancer sample
VAR_035940 commonName VAR_035940
VAR_035941 comment A breast cancer sample
VAR_035941 commonName VAR_035941
VAR_035942 comment A breast cancer sample
VAR_035942 commonName VAR_035942
VAR_035943 comment A colorectal cancer sample
VAR_035943 commonName VAR_035943
VAR_035946 comment A breast cancer sample
VAR_035946 commonName VAR_035946
VAR_035947 comment A breast cancer sample
VAR_035947 commonName VAR_035947
VAR_035948 comment A breast cancer sample
VAR_035948 commonName VAR_035948
VAR_035949 comment A breast cancer sample
VAR_035949 commonName VAR_035949
VAR_035950 comment A colorectal cancer sample
VAR_035950 commonName VAR_035950
VAR_035952 comment A breast cancer sample
VAR_035952 commonName VAR_035952
VAR_035953 comment A colorectal cancer sample
VAR_035953 commonName VAR_035953
VAR_035954 comment A breast cancer sample
VAR_035954 commonName VAR_035954
VAR_035955 comment A colorectal cancer sample
VAR_035955 commonName VAR_035955
VAR_035956 comment A colorectal cancer sample
VAR_035956 commonName VAR_035956
VAR_035958 comment A breast cancer sample
VAR_035958 commonName VAR_035958
VAR_035959 comment A colorectal cancer sample
VAR_035959 commonName VAR_035959
VAR_035960 comment A colorectal cancer sample
VAR_035960 commonName VAR_035960
VAR_035961 comment A colorectal cancer sample
VAR_035961 commonName VAR_035961
VAR_035962 comment A breast cancer sample
VAR_035962 commonName VAR_035962
VAR_035963 comment A breast cancer sample
VAR_035963 commonName VAR_035963
VAR_035964 comment A breast cancer sample
VAR_035964 commonName VAR_035964
VAR_035965 comment A breast cancer sample
VAR_035965 commonName VAR_035965
VAR_035966 comment A breast cancer sample
VAR_035966 commonName VAR_035966
VAR_035967 comment A breast cancer sample
VAR_035967 commonName VAR_035967
VAR_035968 comment A colorectal cancer sample
VAR_035968 commonName VAR_035968
VAR_035969 comment A colorectal cancer sample
VAR_035969 commonName VAR_035969
VAR_035970 comment A breast cancer sample
VAR_035970 commonName VAR_035970
VAR_035971 comment A breast cancer sample
VAR_035971 commonName VAR_035971
VAR_035972 comment A breast cancer sample
VAR_035972 commonName VAR_035972
VAR_035973 comment A colorectal cancer sample
VAR_035973 commonName VAR_035973
VAR_035974 comment A colorectal cancer sample
VAR_035974 commonName VAR_035974
VAR_035975 comment A breast cancer sample
VAR_035975 commonName VAR_035975
VAR_035976 comment A colorectal cancer sample
VAR_035976 commonName VAR_035976
VAR_035977 comment A colorectal cancer sample
VAR_035977 commonName VAR_035977
VAR_035978 comment A colorectal cancer sample
VAR_035978 commonName VAR_035978
VAR_035979 comment A colorectal cancer sample
VAR_035979 commonName VAR_035979
VAR_035980 comment A colorectal cancer sample
VAR_035980 commonName VAR_035980
VAR_035981 comment A colorectal cancer sample
VAR_035981 commonName VAR_035981
VAR_035982 comment A breast cancer sample
VAR_035982 commonName VAR_035982
VAR_035983 comment A breast cancer sample
VAR_035983 commonName VAR_035983
VAR_035984 comment A breast cancer sample
VAR_035984 commonName VAR_035984
VAR_035985 comment A breast cancer sample
VAR_035985 commonName VAR_035985
VAR_035986 comment A colorectal cancer sample
VAR_035986 commonName VAR_035986
VAR_035987 comment A colorectal cancer sample
VAR_035987 commonName VAR_035987
VAR_035988 comment A colorectal cancer sample
VAR_035988 commonName VAR_035988
VAR_035989 comment A breast cancer sample
VAR_035989 commonName VAR_035989
VAR_035990 comment A colorectal cancer sample
VAR_035990 commonName VAR_035990
VAR_035991 comment A breast cancer sample
VAR_035991 commonName VAR_035991
VAR_035992 comment A breast cancer sample
VAR_035992 commonName VAR_035992
VAR_035993 comment A colorectal cancer sample
VAR_035993 commonName VAR_035993
VAR_035994 comment A colorectal cancer sample
VAR_035994 commonName VAR_035994
VAR_035995 comment A colorectal cancer sample
VAR_035995 commonName VAR_035995
HbVar.680 ethnic Cypriot
VAR_035996 comment A colorectal cancer sample
VAR_035996 commonName VAR_035996
VAR_035997 comment A colorectal cancer sample
VAR_035997 commonName VAR_035997
VAR_035999 comment A breast cancer sample
VAR_035999 commonName VAR_035999
VAR_036000 comment A colorectal cancer sample
VAR_036000 commonName VAR_036000
VAR_036001 comment A breast cancer sample
VAR_036001 commonName VAR_036001
VAR_036002 comment A breast cancer sample
VAR_036002 commonName VAR_036002
VAR_036003 comment A breast cancer sample
VAR_036003 commonName VAR_036003
VAR_036004 comment A breast cancer sample
VAR_036004 commonName VAR_036004
VAR_036005 comment A breast cancer sample
VAR_036005 commonName VAR_036005
VAR_036006 comment A breast cancer sample
VAR_036006 commonName VAR_036006
VAR_036007 comment A colorectal cancer sample
VAR_036007 commonName VAR_036007
VAR_036008 comment A colorectal cancer sample
VAR_036008 commonName VAR_036008
VAR_036009 comment A breast cancer sample
VAR_036009 commonName VAR_036009
VAR_036010 comment A breast cancer sample
VAR_036010 commonName VAR_036010
VAR_036011 comment A colorectal cancer sample
VAR_036011 commonName VAR_036011
VAR_036012 comment A colorectal cancer sample
VAR_036012 commonName VAR_036012
VAR_036013 comment Colorectal cancer
VAR_036013 commonName VAR_036013
VAR_036014 comment A colorectal cancer sample
VAR_036014 commonName VAR_036014
VAR_036015 comment A colorectal cancer sample
VAR_036015 commonName VAR_036015
VAR_036016 comment A colorectal cancer sample
VAR_036016 commonName VAR_036016
VAR_036017 comment A colorectal cancer sample
VAR_036017 commonName VAR_036017
VAR_036021 comment A colorectal cancer sample
VAR_036021 commonName VAR_036021
VAR_036022 comment A colorectal cancer sample
VAR_036022 commonName VAR_036022
VAR_036026 comment A breast cancer sample
VAR_036026 commonName VAR_036026
VAR_036027 comment A breast cancer sample
VAR_036027 commonName VAR_036027
VAR_036028 comment A colorectal cancer sample
VAR_036028 commonName VAR_036028
VAR_036029 comment A breast cancer sample
VAR_036029 commonName VAR_036029
VAR_036030 comment A breast cancer sample
VAR_036030 commonName VAR_036030
VAR_036031 comment A breast cancer sample
VAR_036031 commonName VAR_036031
VAR_036033 comment A colorectal cancer sample
VAR_036033 commonName VAR_036033
VAR_036034 comment A breast cancer sample
VAR_036034 commonName VAR_036034
VAR_036035 comment A breast cancer sample
VAR_036035 commonName VAR_036035
VAR_036036 comment A colorectal cancer sample
VAR_036036 commonName VAR_036036
VAR_036037 comment A breast cancer sample
VAR_036037 commonName VAR_036037
VAR_036038 comment A breast cancer sample
VAR_036038 commonName VAR_036038
VAR_036039 comment A breast cancer sample
VAR_036039 commonName VAR_036039
VAR_036040 comment A colorectal cancer sample
VAR_036040 commonName VAR_036040
VAR_036041 comment A breast cancer sample
VAR_036041 commonName VAR_036041
VAR_036042 comment A breast cancer sample
VAR_036042 commonName VAR_036042
VAR_036044 comment A breast cancer sample
VAR_036044 commonName VAR_036044
VAR_036045 comment A breast cancer sample
VAR_036045 commonName VAR_036045
VAR_036046 comment A colorectal cancer sample
VAR_036046 commonName VAR_036046
VAR_036047 comment A breast cancer sample
VAR_036047 commonName VAR_036047
VAR_036048 comment A colorectal cancer sample
VAR_036048 commonName VAR_036048
VAR_036049 comment A colorectal cancer sample
VAR_036049 commonName VAR_036049
VAR_036050 comment A breast cancer sample
VAR_036050 commonName VAR_036050
VAR_036051 comment A colorectal cancer sample
VAR_036051 commonName VAR_036051
VAR_036052 comment A breast cancer sample
VAR_036052 commonName VAR_036052
VAR_036053 comment A breast cancer sample
VAR_036053 commonName VAR_036053
VAR_036054 comment A colorectal cancer sample
VAR_036054 commonName VAR_036054
VAR_036055 comment A colorectal cancer sample
VAR_036055 commonName VAR_036055
VAR_036056 comment A breast cancer sample
VAR_036056 commonName VAR_036056
VAR_036057 comment A breast cancer sample
VAR_036057 commonName VAR_036057
VAR_036058 comment A colorectal cancer sample
VAR_036058 commonName VAR_036058
VAR_036059 comment A colorectal cancer sample
VAR_036059 commonName VAR_036059
VAR_036060 comment A colorectal cancer sample
VAR_036060 commonName VAR_036060
VAR_036061 comment A breast cancer sample
VAR_036061 commonName VAR_036061
VAR_036062 comment A colorectal cancer sample
VAR_036062 commonName VAR_036062
VAR_036064 comment A breast cancer sample
VAR_036064 commonName VAR_036064
VAR_036065 comment A colorectal cancer sample
VAR_036065 commonName VAR_036065
VAR_036066 comment A colorectal cancer sample
VAR_036066 commonName VAR_036066
VAR_036067 comment A colorectal cancer sample
VAR_036067 commonName VAR_036067
VAR_036068 comment A colorectal cancer sample
VAR_036068 commonName VAR_036068
VAR_036070 comment A colorectal cancer sample
VAR_036070 commonName VAR_036070
VAR_036071 comment A colorectal cancer sample
VAR_036071 commonName VAR_036071
VAR_036072 comment A colorectal cancer sample
VAR_036072 commonName VAR_036072
VAR_036073 comment A breast cancer sample
VAR_036073 commonName VAR_036073
VAR_036074 comment A breast cancer sample
VAR_036074 commonName VAR_036074
VAR_036075 comment A breast cancer sample
VAR_036075 commonName VAR_036075
VAR_036076 comment A breast cancer sample
VAR_036076 commonName VAR_036076
VAR_036077 comment A colorectal cancer sample
VAR_036077 commonName VAR_036077
VAR_036078 comment A colorectal cancer sample
VAR_036078 commonName VAR_036078
VAR_036079 comment A breast cancer sample
VAR_036079 commonName VAR_036079
VAR_036080 comment A breast cancer sample
VAR_036080 commonName VAR_036080
VAR_036081 comment A colorectal cancer sample
VAR_036081 commonName VAR_036081
VAR_036082 comment A breast cancer sample
VAR_036082 commonName VAR_036082
VAR_036083 comment A breast cancer sample
VAR_036083 commonName VAR_036083
VAR_036084 comment A breast cancer sample
VAR_036084 commonName VAR_036084
VAR_036085 comment A breast cancer sample
VAR_036085 commonName VAR_036085
VAR_036086 comment A colorectal cancer sample
VAR_036086 commonName VAR_036086
VAR_036087 comment A colorectal cancer sample
VAR_036087 commonName VAR_036087
VAR_036088 comment A colorectal cancer sample
VAR_036088 commonName VAR_036088
VAR_036089 comment A colorectal cancer sample
VAR_036089 commonName VAR_036089
VAR_036090 comment A colorectal cancer sample
VAR_036090 commonName VAR_036090
VAR_036091 comment A colorectal cancer sample
VAR_036091 commonName VAR_036091
VAR_036092 comment A colorectal cancer sample
VAR_036092 commonName VAR_036092
VAR_036093 comment A colorectal cancer sample
VAR_036093 commonName VAR_036093
VAR_036095 comment A breast cancer sample
VAR_036095 commonName VAR_036095
VAR_036096 comment A breast cancer sample
VAR_036096 commonName VAR_036096
VAR_036097 comment A breast cancer sample
VAR_036097 commonName VAR_036097
VAR_036098 comment A breast cancer sample
VAR_036098 commonName VAR_036098
VAR_036099 comment A colorectal cancer sample
VAR_036099 commonName VAR_036099
VAR_036100 comment A breast cancer sample
VAR_036100 commonName VAR_036100
VAR_036101 comment A colorectal cancer sample
VAR_036101 commonName VAR_036101
VAR_036102 comment A breast cancer sample
VAR_036102 commonName VAR_036102
VAR_036103 comment A breast cancer sample
VAR_036103 commonName VAR_036103
VAR_036104 comment A breast cancer sample
VAR_036104 commonName VAR_036104
VAR_036105 comment A breast cancer sample
VAR_036105 commonName VAR_036105
VAR_036106 comment A breast cancer sample
VAR_036106 commonName VAR_036106
VAR_036107 comment A breast cancer sample
VAR_036107 commonName VAR_036107
VAR_036108 comment A breast cancer sample
VAR_036108 commonName VAR_036108
VAR_036109 comment A colorectal cancer sample
VAR_036109 commonName VAR_036109
VAR_036110 comment A colorectal cancer sample
VAR_036110 commonName VAR_036110
VAR_036112 comment A colorectal cancer sample
VAR_036112 commonName VAR_036112
VAR_036114 comment A colorectal cancer sample
VAR_036114 commonName VAR_036114
VAR_036115 comment A colorectal cancer sample
VAR_036115 commonName VAR_036115
VAR_036116 comment A breast cancer sample
VAR_036116 commonName VAR_036116
VAR_036117 comment A colorectal cancer sample
VAR_036117 commonName VAR_036117
VAR_036118 comment A breast cancer sample
VAR_036118 commonName VAR_036118
VAR_036119 comment A breast cancer sample
VAR_036119 commonName VAR_036119
VAR_036120 comment A breast cancer sample
VAR_036120 commonName VAR_036120
VAR_036121 comment A breast cancer sample
VAR_036121 commonName VAR_036121
VAR_036122 comment A breast cancer sample
VAR_036122 commonName VAR_036122
VAR_036123 comment A breast cancer sample
VAR_036123 commonName VAR_036123
VAR_036124 comment A breast cancer sample
VAR_036124 commonName VAR_036124
VAR_036125 comment A colorectal cancer sample
VAR_036125 commonName VAR_036125
VAR_036126 comment A colorectal cancer sample
VAR_036126 commonName VAR_036126
VAR_036127 comment A colorectal cancer sample
VAR_036127 commonName VAR_036127
VAR_036128 comment A breast cancer sample
VAR_036128 commonName VAR_036128
VAR_036129 comment A breast cancer sample
VAR_036129 commonName VAR_036129
VAR_036130 comment A breast cancer sample
VAR_036130 commonName VAR_036130
VAR_036131 comment A colorectal cancer sample
VAR_036131 commonName VAR_036131
VAR_036132 comment A breast cancer sample
VAR_036132 commonName VAR_036132
VAR_036133 comment A breast cancer sample
VAR_036133 commonName VAR_036133
VAR_036135 comment A colorectal cancer sample
VAR_036135 commonName VAR_036135
VAR_036136 comment A colorectal cancer sample
VAR_036136 commonName VAR_036136
VAR_036137 comment A colorectal cancer sample
VAR_036137 commonName VAR_036137
VAR_036139 comment A breast cancer sample
VAR_036139 commonName VAR_036139
VAR_036140 comment A colorectal cancer sample
VAR_036140 commonName VAR_036140
VAR_036141 comment A breast cancer sample
VAR_036141 commonName VAR_036141
VAR_036142 comment A breast cancer sample
VAR_036142 commonName VAR_036142
VAR_036143 comment A breast cancer sample
VAR_036143 commonName VAR_036143
VAR_036144 comment A breast cancer sample
VAR_036144 commonName VAR_036144
VAR_036145 comment A breast cancer sample
VAR_036145 commonName VAR_036145
VAR_036146 comment A colorectal cancer sample
VAR_036146 commonName VAR_036146
VAR_036147 comment A colorectal cancer sample
VAR_036147 commonName VAR_036147
VAR_036148 comment A colorectal cancer sample
VAR_036148 commonName VAR_036148
VAR_036149 comment A colorectal cancer sample
VAR_036149 commonName VAR_036149
VAR_036150 comment A colorectal cancer sample
VAR_036150 commonName VAR_036150
VAR_036151 comment A colorectal cancer sample
VAR_036151 commonName VAR_036151
VAR_036152 comment A colorectal cancer sample
VAR_036152 commonName VAR_036152
VAR_036153 comment A colorectal cancer sample
VAR_036153 commonName VAR_036153
VAR_036154 comment A breast cancer sample
VAR_036154 commonName VAR_036154
VAR_036155 comment A colorectal cancer sample
VAR_036155 commonName VAR_036155
VAR_036156 comment A breast cancer sample
VAR_036156 commonName VAR_036156
VAR_036157 comment A breast cancer sample
VAR_036157 commonName VAR_036157
VAR_036158 comment A breast cancer sample
VAR_036158 commonName VAR_036158
VAR_036159 comment A breast cancer sample
VAR_036159 commonName VAR_036159
VAR_036161 comment A breast cancer sample
VAR_036161 commonName VAR_036161
VAR_036163 comment A breast cancer sample
VAR_036163 commonName VAR_036163
VAR_036164 comment A breast cancer sample
VAR_036164 commonName VAR_036164
VAR_036165 comment A colorectal cancer sample
VAR_036165 commonName VAR_036165
VAR_036166 comment A colorectal cancer sample
VAR_036166 commonName VAR_036166
VAR_036167 comment A colorectal cancer sample
VAR_036167 commonName VAR_036167
VAR_036168 comment A colorectal cancer sample
VAR_036168 commonName VAR_036168
VAR_036169 comment A colorectal cancer sample
VAR_036169 commonName VAR_036169
VAR_036170 comment A colorectal cancer sample
VAR_036170 commonName VAR_036170
VAR_036171 comment A breast cancer sample
VAR_036171 commonName VAR_036171
VAR_036172 comment A breast cancer sample
VAR_036172 commonName VAR_036172
VAR_036173 comment A colorectal cancer sample
VAR_036173 commonName VAR_036173
VAR_036174 comment A breast cancer sample
VAR_036174 commonName VAR_036174
VAR_036175 comment A breast cancer sample
VAR_036175 commonName VAR_036175
VAR_036176 comment A breast cancer sample
VAR_036176 commonName VAR_036176
VAR_036177 comment A breast cancer sample
VAR_036177 commonName VAR_036177
VAR_036178 comment A breast cancer sample
VAR_036178 commonName VAR_036178
VAR_036179 comment A colorectal cancer sample
VAR_036179 commonName VAR_036179
VAR_036180 comment A colorectal cancer sample
VAR_036180 commonName VAR_036180
VAR_036181 comment A breast cancer sample
VAR_036181 commonName VAR_036181
VAR_036185 comment A breast cancer sample
VAR_036185 commonName VAR_036185
VAR_036186 comment A colorectal cancer sample
VAR_036186 commonName VAR_036186
VAR_036191 comment A breast cancer sample
VAR_036191 commonName VAR_036191
VAR_036192 comment A breast cancer sample
VAR_036192 commonName VAR_036192
VAR_036194 comment A colorectal cancer sample
VAR_036194 commonName VAR_036194
VAR_036195 comment A breast cancer sample
VAR_036195 commonName VAR_036195
VAR_036196 comment A breast cancer sample
VAR_036196 commonName VAR_036196
VAR_036197 comment A colorectal cancer sample
VAR_036197 commonName VAR_036197
VAR_036198 comment A breast cancer sample
VAR_036198 commonName VAR_036198
VAR_036199 comment A breast cancer sample
VAR_036199 commonName VAR_036199
VAR_036200 comment A colorectal cancer sample
VAR_036200 commonName VAR_036200
VAR_036201 comment A colorectal cancer sample
VAR_036201 commonName VAR_036201
VAR_036202 comment A colorectal cancer sample
VAR_036202 commonName VAR_036202
VAR_036203 comment A colorectal cancer sample
VAR_036203 commonName VAR_036203
VAR_036204 comment A colorectal cancer sample
VAR_036204 commonName VAR_036204
VAR_036205 comment A colorectal cancer sample
VAR_036205 commonName VAR_036205
VAR_036206 comment A breast cancer sample
VAR_036206 commonName VAR_036206
VAR_036207 comment A colorectal cancer sample
VAR_036207 commonName VAR_036207
VAR_036208 comment A breast cancer sample
VAR_036208 commonName VAR_036208
VAR_036213 comment A colorectal cancer sample
VAR_036213 commonName VAR_036213
VAR_036214 comment A breast cancer sample
VAR_036214 commonName VAR_036214
VAR_036215 comment A breast cancer sample
VAR_036215 commonName VAR_036215
VAR_036216 comment A breast cancer sample
VAR_036216 commonName VAR_036216
VAR_036217 comment A breast cancer sample
VAR_036217 commonName VAR_036217
VAR_036218 comment A breast cancer sample
VAR_036218 commonName VAR_036218
VAR_036219 comment A breast cancer sample
VAR_036219 commonName VAR_036219
VAR_036220 comment A breast cancer sample
VAR_036220 commonName VAR_036220
VAR_036221 comment A colorectal cancer sample
VAR_036221 commonName VAR_036221
VAR_036222 comment A colorectal cancer sample
VAR_036222 commonName VAR_036222
VAR_036223 comment A colorectal cancer sample
VAR_036223 commonName VAR_036223
VAR_036224 comment A breast cancer sample
VAR_036224 commonName VAR_036224
VAR_036225 comment A breast cancer sample
VAR_036225 commonName VAR_036225
VAR_036226 comment A breast cancer sample
VAR_036226 commonName VAR_036226
VAR_036227 comment A colorectal cancer sample
VAR_036227 commonName VAR_036227
VAR_036228 comment A colorectal cancer sample
VAR_036228 commonName VAR_036228
VAR_036229 comment A colorectal cancer sample
VAR_036229 commonName VAR_036229
VAR_036230 comment A colorectal cancer sample
VAR_036230 commonName VAR_036230
VAR_036231 comment A colorectal cancer sample
VAR_036231 commonName VAR_036231
VAR_036232 comment A breast cancer sample
VAR_036232 commonName VAR_036232
VAR_036233 comment A breast cancer sample
VAR_036233 commonName VAR_036233
VAR_036234 comment A breast cancer sample
VAR_036234 commonName VAR_036234
VAR_036235 comment A colorectal cancer sample
VAR_036235 commonName VAR_036235
VAR_036236 comment A colorectal cancer sample
VAR_036236 commonName VAR_036236
VAR_036237 comment A colorectal cancer sample
VAR_036237 commonName VAR_036237
VAR_036238 comment A colorectal cancer sample
VAR_036238 commonName VAR_036238
VAR_036239 comment A colorectal cancer sample
VAR_036239 commonName VAR_036239
VAR_036240 comment A breast cancer sample
VAR_036240 commonName VAR_036240
VAR_036241 comment A breast cancer sample
VAR_036241 commonName VAR_036241
VAR_036242 comment A breast cancer sample
VAR_036242 commonName VAR_036242
VAR_036243 comment A colorectal cancer sample
VAR_036243 commonName VAR_036243
VAR_036245 comment A breast cancer sample
VAR_036245 commonName VAR_036245
VAR_036246 comment A breast cancer sample
VAR_036246 commonName VAR_036246
VAR_036247 comment A breast cancer sample
VAR_036247 commonName VAR_036247
VAR_036248 comment A colorectal cancer sample
VAR_036248 commonName VAR_036248
VAR_036249 comment A colorectal cancer sample
VAR_036249 commonName VAR_036249
VAR_036250 comment A colorectal cancer sample
VAR_036250 commonName VAR_036250
VAR_036251 comment A colorectal cancer sample
VAR_036251 commonName VAR_036251
VAR_036252 comment A colorectal cancer sample
VAR_036252 commonName VAR_036252
VAR_036253 comment A colorectal cancer sample
VAR_036253 commonName VAR_036253
VAR_036254 comment A colorectal cancer sample
VAR_036254 commonName VAR_036254
VAR_036255 comment A breast cancer sample
VAR_036255 commonName VAR_036255
VAR_036256 comment A breast cancer sample
VAR_036256 commonName VAR_036256
VAR_036257 comment A breast cancer sample
VAR_036257 commonName VAR_036257
VAR_036258 comment A breast cancer sample
VAR_036258 commonName VAR_036258
VAR_036259 comment A colorectal cancer sample
VAR_036259 commonName VAR_036259
VAR_036260 comment A breast cancer sample
VAR_036260 commonName VAR_036260
VAR_036261 comment A colorectal cancer sample
VAR_036261 commonName VAR_036261
VAR_036262 comment A breast cancer sample
VAR_036262 commonName VAR_036262
VAR_036263 comment A breast cancer sample
VAR_036263 commonName VAR_036263
VAR_036264 comment A breast cancer sample
VAR_036264 commonName VAR_036264
VAR_036265 comment A breast cancer sample
VAR_036265 commonName VAR_036265
VAR_036266 comment A breast cancer sample
VAR_036266 commonName VAR_036266
VAR_036267 comment A colorectal cancer sample
VAR_036267 commonName VAR_036267
VAR_036268 comment A breast cancer sample
VAR_036268 commonName VAR_036268
VAR_036269 comment A colorectal cancer sample
VAR_036269 commonName VAR_036269
VAR_036270 comment A breast cancer sample
VAR_036270 commonName VAR_036270
VAR_036271 comment A colorectal cancer sample
VAR_036271 commonName VAR_036271
VAR_036272 comment A colorectal cancer sample
VAR_036272 commonName VAR_036272
VAR_036273 comment A breast cancer sample
VAR_036273 commonName VAR_036273
VAR_036274 comment A breast cancer sample
VAR_036274 commonName VAR_036274
VAR_036275 comment A breast cancer sample
VAR_036275 commonName VAR_036275
VAR_036276 comment A breast cancer sample
VAR_036276 commonName VAR_036276
VAR_036278 comment A colorectal cancer sample
VAR_036278 commonName VAR_036278
VAR_036279 comment A colorectal cancer sample
VAR_036279 commonName VAR_036279
VAR_036280 comment A colorectal cancer sample
VAR_036280 commonName VAR_036280
VAR_036281 comment A breast cancer sample
VAR_036281 commonName VAR_036281
VAR_036282 comment A breast cancer sample
VAR_036282 commonName VAR_036282
VAR_036283 comment A breast cancer sample
VAR_036283 commonName VAR_036283
VAR_036284 comment A breast cancer sample
VAR_036284 commonName VAR_036284
VAR_036285 comment A breast cancer sample
VAR_036285 commonName VAR_036285
VAR_036286 comment A colorectal cancer sample
VAR_036286 commonName VAR_036286
VAR_036287 comment A breast cancer sample
VAR_036287 commonName VAR_036287
VAR_036288 comment A colorectal cancer sample
VAR_036288 commonName VAR_036288
VAR_036289 comment A colorectal cancer sample
VAR_036289 commonName VAR_036289
VAR_036290 comment A colorectal cancer sample
VAR_036290 commonName VAR_036290
VAR_036291 comment A colorectal cancer sample
VAR_036291 commonName VAR_036291
VAR_036292 comment A colorectal cancer sample
VAR_036292 commonName VAR_036292
VAR_036294 comment A breast cancer sample
VAR_036294 commonName VAR_036294
VAR_036295 comment A breast cancer sample
VAR_036295 commonName VAR_036295
VAR_036296 comment A breast cancer sample
VAR_036296 commonName VAR_036296
VAR_036297 comment A breast cancer sample
VAR_036297 commonName VAR_036297
VAR_036298 comment A breast cancer sample
VAR_036298 commonName VAR_036298
VAR_036299 comment A colorectal cancer sample
VAR_036299 commonName VAR_036299
VAR_036300 comment A breast cancer sample
VAR_036300 commonName VAR_036300
VAR_036301 comment A breast cancer sample
VAR_036301 commonName VAR_036301
VAR_036303 comment A colorectal cancer sample
VAR_036303 commonName VAR_036303
VAR_036304 comment A colorectal cancer sample
VAR_036304 commonName VAR_036304
VAR_036305 comment A colorectal cancer sample
VAR_036305 commonName VAR_036305
VAR_036306 comment A colorectal cancer sample
VAR_036306 commonName VAR_036306
VAR_036307 comment A colorectal cancer sample
VAR_036307 commonName VAR_036307
VAR_036308 comment A colorectal cancer sample
VAR_036308 commonName VAR_036308
VAR_036309 comment A breast cancer sample
VAR_036309 commonName VAR_036309
VAR_036310 comment A colorectal cancer sample
VAR_036310 commonName VAR_036310
VAR_036311 comment A colorectal cancer sample
VAR_036311 commonName VAR_036311
VAR_036312 comment A colorectal cancer sample
VAR_036312 commonName VAR_036312
VAR_036313 comment A colorectal cancer sample
VAR_036313 commonName VAR_036313
VAR_036314 comment A colorectal cancer sample
VAR_036314 commonName VAR_036314
VAR_036315 comment A colorectal cancer sample
VAR_036315 commonName VAR_036315
VAR_036317 comment A breast cancer sample
VAR_036317 commonName VAR_036317
VAR_036318 comment A colorectal cancer sample
VAR_036318 commonName VAR_036318
VAR_036319 comment A colorectal cancer sample
VAR_036319 commonName VAR_036319
VAR_036320 comment A breast cancer sample
VAR_036320 commonName VAR_036320
VAR_036321 comment A colorectal cancer sample
VAR_036321 commonName VAR_036321
VAR_036322 comment A colorectal cancer sample
VAR_036322 commonName VAR_036322
VAR_036323 comment A colorectal cancer sample
VAR_036323 commonName VAR_036323
VAR_036324 comment A colorectal cancer sample
VAR_036324 commonName VAR_036324
VAR_036325 comment A breast cancer sample
VAR_036325 commonName VAR_036325
VAR_036326 comment A breast cancer sample
VAR_036326 commonName VAR_036326
VAR_036327 comment A breast cancer sample
VAR_036327 commonName VAR_036327
VAR_036328 comment A colorectal cancer sample
VAR_036328 commonName VAR_036328
VAR_036330 comment A breast cancer sample
VAR_036330 commonName VAR_036330
VAR_036331 comment A colorectal cancer sample
VAR_036331 commonName VAR_036331
VAR_036332 comment A colorectal cancer sample
VAR_036332 commonName VAR_036332
VAR_036333 comment A breast cancer sample
VAR_036333 commonName VAR_036333
VAR_036334 comment A breast cancer sample
VAR_036334 commonName VAR_036334
VAR_036335 comment A breast cancer sample
VAR_036335 commonName VAR_036335
VAR_036336 comment A colorectal cancer sample
VAR_036336 commonName VAR_036336
VAR_036337 comment A breast cancer sample
VAR_036337 commonName VAR_036337
VAR_036338 comment A breast cancer sample
VAR_036338 commonName VAR_036338
VAR_036339 comment A breast cancer sample
VAR_036339 commonName VAR_036339
VAR_036340 comment A breast cancer sample
VAR_036340 commonName VAR_036340
VAR_036341 comment A colorectal cancer sample
VAR_036341 commonName VAR_036341
VAR_036342 comment A colorectal cancer sample
VAR_036342 commonName VAR_036342
VAR_036343 comment A breast cancer sample
VAR_036343 commonName VAR_036343
VAR_036345 comment A breast cancer sample
VAR_036345 commonName VAR_036345
VAR_036346 comment A breast cancer sample
VAR_036346 commonName VAR_036346
VAR_036347 comment A breast cancer sample
VAR_036347 commonName VAR_036347
VAR_036348 comment A colorectal cancer sample
VAR_036348 commonName VAR_036348
VAR_036349 comment A colorectal cancer sample
VAR_036349 commonName VAR_036349
VAR_036350 comment A colorectal cancer sample
VAR_036350 commonName VAR_036350
VAR_036352 comment A breast cancer sample
VAR_036352 commonName VAR_036352
VAR_036353 comment A colorectal cancer sample
VAR_036353 commonName VAR_036353
VAR_036354 comment A breast cancer sample
VAR_036354 commonName VAR_036354
VAR_036355 comment A breast cancer sample
VAR_036355 commonName VAR_036355
VAR_036356 comment A colorectal cancer sample
VAR_036356 commonName VAR_036356
VAR_036357 comment A colorectal cancer sample
VAR_036357 commonName VAR_036357
VAR_036358 comment A breast cancer sample
VAR_036358 commonName VAR_036358
VAR_036359 comment A colorectal cancer sample
VAR_036359 commonName VAR_036359
VAR_036360 comment A breast cancer sample
VAR_036360 commonName VAR_036360
VAR_036361 comment A breast cancer sample
VAR_036361 commonName VAR_036361
VAR_036362 comment A colorectal cancer sample
VAR_036362 commonName VAR_036362
VAR_036363 comment A breast cancer sample
VAR_036363 commonName VAR_036363
VAR_036364 comment A colorectal cancer sample
VAR_036364 commonName VAR_036364
VAR_036365 comment A breast cancer sample
VAR_036365 commonName VAR_036365
VAR_036366 comment A colorectal cancer sample
VAR_036366 commonName VAR_036366
VAR_036367 comment A colorectal cancer sample
VAR_036367 commonName VAR_036367
VAR_036368 comment A breast cancer sample
VAR_036368 commonName VAR_036368
VAR_036369 comment A breast cancer sample
VAR_036369 commonName VAR_036369
VAR_036370 comment A colorectal cancer sample
VAR_036370 commonName VAR_036370
VAR_036371 comment A breast cancer sample
VAR_036371 commonName VAR_036371
VAR_036372 comment A breast cancer sample
VAR_036372 commonName VAR_036372
VAR_036373 comment A colorectal cancer sample
VAR_036373 commonName VAR_036373
VAR_036374 comment A breast cancer sample
VAR_036374 commonName VAR_036374
VAR_036375 comment A breast cancer sample
VAR_036375 commonName VAR_036375
VAR_036376 comment A colorectal cancer sample
VAR_036376 commonName VAR_036376
VAR_036377 comment A colorectal cancer sample
VAR_036377 commonName VAR_036377
VAR_036378 comment A colorectal cancer sample
VAR_036378 commonName VAR_036378
VAR_036379 comment A breast cancer sample
VAR_036379 commonName VAR_036379
VAR_036380 comment Breast cancer samples
VAR_036380 commonName VAR_036380
VAR_036381 comment A breast cancer sample
VAR_036381 commonName VAR_036381
VAR_036382 comment A breast cancer sample
VAR_036382 commonName VAR_036382
VAR_036383 comment A breast cancer sample
VAR_036383 commonName VAR_036383
VAR_036384 comment A breast cancer sample
VAR_036384 commonName VAR_036384
VAR_036385 comment A colorectal cancer sample
VAR_036385 commonName VAR_036385
VAR_036386 comment A breast cancer sample
VAR_036386 commonName VAR_036386
VAR_036387 comment A breast cancer sample
VAR_036387 commonName VAR_036387
VAR_036388 comment A breast cancer sample
VAR_036388 commonName VAR_036388
VAR_036389 comment A breast cancer sample
VAR_036389 commonName VAR_036389
VAR_036390 comment A colorectal cancer sample
VAR_036390 commonName VAR_036390
VAR_036391 comment A colorectal cancer sample
VAR_036391 commonName VAR_036391
VAR_036392 comment A breast cancer sample
VAR_036392 commonName VAR_036392
VAR_036393 comment A breast cancer sample
VAR_036393 commonName VAR_036393
VAR_036394 comment A breast cancer sample
VAR_036394 commonName VAR_036394
VAR_036395 comment A breast cancer sample
VAR_036395 commonName VAR_036395
VAR_036396 comment A colorectal cancer sample
VAR_036396 commonName VAR_036396
VAR_036397 comment A breast cancer sample
VAR_036397 commonName VAR_036397
VAR_036398 comment A colorectal cancer sample
VAR_036398 commonName VAR_036398
VAR_036399 comment A colorectal cancer sample
VAR_036399 commonName VAR_036399
VAR_036400 comment A colorectal cancer sample
VAR_036400 commonName VAR_036400
VAR_036401 comment A colorectal cancer sample
VAR_036401 commonName VAR_036401
VAR_036402 comment A colorectal cancer sample
VAR_036402 commonName VAR_036402
VAR_036403 comment A breast cancer sample
VAR_036403 commonName VAR_036403
VAR_036404 comment A breast cancer sample
VAR_036404 commonName VAR_036404
VAR_036405 comment A colorectal cancer sample
VAR_036405 commonName VAR_036405
VAR_036406 comment A breast cancer sample
VAR_036406 commonName VAR_036406
VAR_036408 comment A breast cancer sample
VAR_036408 commonName VAR_036408
VAR_036409 comment A colorectal cancer sample
VAR_036409 commonName VAR_036409
VAR_036410 comment A colorectal cancer sample
VAR_036410 commonName VAR_036410
VAR_036411 comment A colorectal cancer sample
VAR_036411 commonName VAR_036411
VAR_036412 comment A breast cancer sample
VAR_036412 commonName VAR_036412
VAR_036413 comment A colorectal cancer sample
VAR_036413 commonName VAR_036413
VAR_036414 comment A colorectal cancer sample
VAR_036414 commonName VAR_036414
VAR_036415 comment A colorectal cancer sample
VAR_036415 commonName VAR_036415
VAR_036416 comment A breast cancer sample
VAR_036416 commonName VAR_036416
VAR_036417 comment A breast cancer sample
VAR_036417 commonName VAR_036417
VAR_036418 comment A colorectal cancer sample
VAR_036418 commonName VAR_036418
VAR_036419 comment A breast cancer sample
VAR_036419 commonName VAR_036419
VAR_036420 comment A colorectal cancer sample
VAR_036420 commonName VAR_036420
VAR_036421 comment A colorectal cancer sample
VAR_036421 commonName VAR_036421
VAR_036422 comment A breast cancer sample
VAR_036422 commonName VAR_036422
VAR_036423 comment A breast cancer sample
VAR_036423 commonName VAR_036423
VAR_036424 comment A breast cancer sample
VAR_036424 commonName VAR_036424
VAR_036425 comment A breast cancer sample
VAR_036425 commonName VAR_036425
VAR_036426 comment A breast cancer sample
VAR_036426 commonName VAR_036426
VAR_036427 comment A breast cancer sample
VAR_036427 commonName VAR_036427
VAR_036428 comment A colorectal cancer sample
VAR_036428 commonName VAR_036428
VAR_036429 comment A colorectal cancer sample
VAR_036429 commonName VAR_036429
VAR_036430 comment A breast cancer sample
VAR_036430 commonName VAR_036430
VAR_036431 comment A breast cancer sample
VAR_036431 commonName VAR_036431
VAR_036432 comment A breast cancer sample
VAR_036432 commonName VAR_036432
VAR_036433 comment A breast cancer sample
VAR_036433 commonName VAR_036433
VAR_036434 comment A colorectal cancer sample
VAR_036434 commonName VAR_036434
VAR_036435 comment A breast cancer sample
VAR_036435 commonName VAR_036435
VAR_036436 comment A breast cancer sample
VAR_036436 commonName VAR_036436
VAR_036437 comment A colorectal cancer sample
VAR_036437 commonName VAR_036437
VAR_036438 comment A breast cancer sample
VAR_036438 commonName VAR_036438
VAR_036439 comment A colorectal cancer sample
VAR_036439 commonName VAR_036439
VAR_036440 comment A colorectal cancer sample
VAR_036440 commonName VAR_036440
VAR_036441 comment A breast cancer sample
VAR_036441 commonName VAR_036441
VAR_036442 comment A breast cancer sample
VAR_036442 commonName VAR_036442
VAR_036444 comment A colorectal cancer sample
VAR_036444 commonName VAR_036444
VAR_036445 comment A colorectal cancer sample
VAR_036445 commonName VAR_036445
VAR_036446 comment A breast cancer sample
VAR_036446 commonName VAR_036446
VAR_036447 comment A breast cancer sample
VAR_036447 commonName VAR_036447
VAR_036448 comment A colorectal cancer sample
VAR_036448 commonName VAR_036448
VAR_036449 comment A colorectal cancer sample
VAR_036449 commonName VAR_036449
VAR_036450 comment A colorectal cancer sample
VAR_036450 commonName VAR_036450
VAR_036451 comment Breast cancer samples
VAR_036451 commonName VAR_036451
VAR_036452 comment A breast cancer sample
VAR_036452 commonName VAR_036452
VAR_036453 comment A breast cancer sample
VAR_036453 commonName VAR_036453
VAR_036455 comment A breast cancer sample
VAR_036455 commonName VAR_036455
VAR_036456 comment A breast cancer sample
VAR_036456 commonName VAR_036456
VAR_036457 comment A breast cancer sample
VAR_036457 commonName VAR_036457
VAR_036458 comment A breast cancer sample
VAR_036458 commonName VAR_036458
VAR_036459 comment A colorectal cancer sample
VAR_036459 commonName VAR_036459
VAR_036460 comment A breast cancer sample
VAR_036460 commonName VAR_036460
VAR_036461 comment A colorectal cancer sample
VAR_036461 commonName VAR_036461
VAR_036463 comment A breast cancer sample
VAR_036463 commonName VAR_036463
VAR_036464 comment A colorectal cancer sample
VAR_036464 commonName VAR_036464
VAR_036465 comment A colorectal cancer sample
VAR_036465 commonName VAR_036465
VAR_036466 comment A breast cancer sample
VAR_036466 commonName VAR_036466
VAR_036467 comment A breast cancer sample
VAR_036467 commonName VAR_036467
VAR_036468 comment A breast cancer sample
VAR_036468 commonName VAR_036468
VAR_036469 comment A colorectal cancer sample
VAR_036469 commonName VAR_036469
VAR_036470 comment A colorectal cancer sample
VAR_036470 commonName VAR_036470
VAR_036471 comment A colorectal cancer sample
VAR_036471 commonName VAR_036471
VAR_036472 comment A breast cancer sample
VAR_036472 commonName VAR_036472
VAR_036473 comment A colorectal cancer sample
VAR_036473 commonName VAR_036473
VAR_036475 comment A colorectal cancer sample
VAR_036475 commonName VAR_036475
VAR_036476 comment A colorectal cancer sample
VAR_036476 commonName VAR_036476
VAR_036477 comment A colorectal cancer sample
VAR_036477 commonName VAR_036477
VAR_036478 comment A colorectal cancer sample
VAR_036478 commonName VAR_036478
VAR_036479 comment A colorectal cancer sample
VAR_036479 commonName VAR_036479
VAR_036480 comment A colorectal cancer sample
VAR_036480 commonName VAR_036480
VAR_036481 comment A breast cancer sample
VAR_036481 commonName VAR_036481
VAR_036482 comment A breast cancer sample
VAR_036482 commonName VAR_036482
VAR_036483 comment A colorectal cancer sample
VAR_036483 commonName VAR_036483
VAR_036484 comment A breast cancer sample
VAR_036484 commonName VAR_036484
VAR_036485 comment A breast cancer sample
VAR_036485 commonName VAR_036485
VAR_036486 comment A breast cancer sample
VAR_036486 commonName VAR_036486
VAR_036487 comment A breast cancer sample
VAR_036487 commonName VAR_036487
VAR_036488 comment A breast cancer sample
VAR_036488 commonName VAR_036488
VAR_036489 comment A breast cancer sample
VAR_036489 commonName VAR_036489
VAR_036490 comment A breast cancer sample
VAR_036490 commonName VAR_036490
VAR_036491 comment A breast cancer sample
VAR_036491 commonName VAR_036491
VAR_036492 comment A breast cancer sample
VAR_036492 commonName VAR_036492
VAR_036493 comment A colorectal cancer sample
VAR_036493 commonName VAR_036493
VAR_036494 comment A breast cancer sample
VAR_036494 commonName VAR_036494
VAR_036495 comment A breast cancer sample
VAR_036495 commonName VAR_036495
VAR_036496 comment A colorectal cancer sample
VAR_036496 commonName VAR_036496
VAR_036497 comment A breast cancer sample
VAR_036497 commonName VAR_036497
VAR_036498 comment A breast cancer sample
VAR_036498 commonName VAR_036498
VAR_036499 comment A breast cancer sample
VAR_036499 commonName VAR_036499
VAR_036500 comment A breast cancer sample
VAR_036500 commonName VAR_036500
VAR_036501 comment A colorectal cancer sample
VAR_036501 commonName VAR_036501
VAR_036502 comment A colorectal cancer sample
VAR_036502 commonName VAR_036502
VAR_036503 comment A breast cancer sample
VAR_036503 commonName VAR_036503
VAR_036504 comment Sporadic cancers
VAR_036504 commonName VAR_036504
VAR_036505 comment Sporadic cancers
VAR_036505 commonName VAR_036505
VAR_036506 commonName VAR_036506
VAR_036506 disease phenotype-associated
VAR_036506 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_036507 comment Sporadic cancers
VAR_036507 commonName VAR_036507
VAR_036508 comment Sporadic cancers
VAR_036508 commonName VAR_036508
VAR_036509 commonName VAR_036509
VAR_036509 disease phenotype-associated
VAR_036509 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_036510 comment A breast cancer sample
VAR_036510 commonName VAR_036510
VAR_036511 comment A colorectal cancer sample
VAR_036511 commonName VAR_036511
VAR_036512 comment A colorectal cancer sample
VAR_036512 commonName VAR_036512
VAR_036515 comment A colorectal cancer sample
VAR_036515 commonName VAR_036515
VAR_036516 comment A breast cancer sample
VAR_036516 commonName VAR_036516
VAR_036517 comment A colorectal cancer sample
VAR_036517 commonName VAR_036517
VAR_036520 comment A colorectal cancer sample
VAR_036520 commonName VAR_036520
VAR_036521 comment A breast cancer sample
VAR_036521 commonName VAR_036521
VAR_036522 comment A breast cancer sample
VAR_036522 commonName VAR_036522
VAR_036523 comment A breast cancer sample
VAR_036523 commonName VAR_036523
VAR_036524 comment A breast cancer sample
VAR_036524 commonName VAR_036524
VAR_036528 comment A colorectal cancer sample
VAR_036528 commonName VAR_036528
VAR_036529 comment A colorectal cancer sample
VAR_036529 commonName VAR_036529
VAR_036530 comment A breast cancer sample
VAR_036530 commonName VAR_036530
VAR_036531 comment A breast cancer sample
VAR_036531 commonName VAR_036531
VAR_036532 comment A colorectal cancer sample
VAR_036532 commonName VAR_036532
VAR_036533 comment A breast cancer sample
VAR_036533 commonName VAR_036533
VAR_036534 comment A breast cancer sample
VAR_036534 commonName VAR_036534
VAR_036536 comment A breast cancer sample
VAR_036536 commonName VAR_036536
VAR_036537 comment A breast cancer sample
VAR_036537 commonName VAR_036537
VAR_036538 comment A colorectal cancer sample
VAR_036538 commonName VAR_036538
VAR_036539 comment A breast cancer sample
VAR_036539 commonName VAR_036539
VAR_036541 comment A colorectal cancer sample
VAR_036541 commonName VAR_036541
VAR_036542 comment A colorectal cancer sample
VAR_036542 commonName VAR_036542
VAR_036543 comment A breast cancer sample
VAR_036543 commonName VAR_036543
VAR_036544 comment A colorectal cancer sample
VAR_036544 commonName VAR_036544
VAR_036545 comment A breast cancer sample
VAR_036545 commonName VAR_036545
VAR_036546 comment A breast cancer sample
HbVar.680 phenoCommon Hemoglobin variant
VAR_036546 commonName VAR_036546
VAR_036548 comment A colorectal cancer sample
VAR_036548 commonName VAR_036548
VAR_036549 comment A breast cancer sample
VAR_036549 commonName VAR_036549
VAR_036550 comment A colorectal cancer sample
VAR_036550 commonName VAR_036550
VAR_036551 comment A breast cancer sample
VAR_036551 commonName VAR_036551
VAR_036552 comment A breast cancer sample
VAR_036552 commonName VAR_036552
VAR_036553 comment A colorectal cancer sample
VAR_036553 commonName VAR_036553
VAR_036555 comment Breast cancer
VAR_036555 commonName VAR_036555
VAR_036556 comment A colorectal cancer sample
VAR_036556 commonName VAR_036556
VAR_036557 comment A colorectal cancer sample
VAR_036557 commonName VAR_036557
VAR_036559 comment A breast cancer sample
VAR_036559 commonName VAR_036559
VAR_036560 comment A colorectal cancer sample
VAR_036560 commonName VAR_036560
VAR_036561 comment A breast cancer sample
VAR_036561 commonName VAR_036561
VAR_036562 comment A breast cancer sample
VAR_036562 commonName VAR_036562
VAR_036563 comment A breast cancer sample
VAR_036563 commonName VAR_036563
VAR_036564 comment A breast cancer sample
VAR_036564 commonName VAR_036564
VAR_036565 comment A colorectal cancer sample
VAR_036565 commonName VAR_036565
VAR_036566 comment A breast cancer sample
VAR_036566 commonName VAR_036566
VAR_036567 comment A breast cancer sample
VAR_036567 commonName VAR_036567
VAR_036568 comment A breast cancer sample
VAR_036568 commonName VAR_036568
VAR_036569 comment A breast cancer sample
VAR_036569 commonName VAR_036569
VAR_036570 comment A breast cancer sample
VAR_036570 commonName VAR_036570
VAR_036571 comment A breast cancer sample
VAR_036571 commonName VAR_036571
VAR_036572 comment A breast cancer sample
VAR_036572 commonName VAR_036572
VAR_036573 comment A breast cancer sample
VAR_036573 commonName VAR_036573
VAR_036574 comment A breast cancer sample
VAR_036574 commonName VAR_036574
VAR_036575 comment A breast cancer sample
VAR_036575 commonName VAR_036575
VAR_036576 comment A colorectal cancer sample
VAR_036576 commonName VAR_036576
VAR_036577 comment A breast cancer sample
VAR_036577 commonName VAR_036577
VAR_036578 comment A colorectal cancer sample
VAR_036578 commonName VAR_036578
VAR_036579 comment A breast cancer sample
VAR_036579 commonName VAR_036579
VAR_036580 comment A colorectal cancer sample
VAR_036580 commonName VAR_036580
VAR_036581 comment A breast cancer sample
VAR_036581 commonName VAR_036581
VAR_036582 comment A breast cancer sample
VAR_036582 commonName VAR_036582
VAR_036583 comment A breast cancer sample
VAR_036583 commonName VAR_036583
VAR_036584 comment A breast cancer sample
VAR_036584 commonName VAR_036584
VAR_036585 comment A breast cancer sample
VAR_036585 commonName VAR_036585
VAR_036586 comment A breast cancer sample
VAR_036586 commonName VAR_036586
VAR_036587 comment A colorectal cancer sample
VAR_036587 commonName VAR_036587
VAR_036588 comment A breast cancer sample
VAR_036588 commonName VAR_036588
VAR_036589 comment A breast cancer sample
VAR_036589 commonName VAR_036589
VAR_036590 comment A colorectal cancer sample
VAR_036590 commonName VAR_036590
VAR_036591 comment A colorectal cancer sample
VAR_036591 commonName VAR_036591
VAR_036592 comment A breast cancer sample
VAR_036592 commonName VAR_036592
VAR_036593 comment A breast cancer sample
VAR_036593 commonName VAR_036593
VAR_036594 comment A breast cancer sample
VAR_036594 commonName VAR_036594
VAR_036595 comment A colorectal cancer sample
VAR_036595 commonName VAR_036595
VAR_036596 comment A breast cancer sample
VAR_036596 commonName VAR_036596
VAR_036597 comment A breast cancer sample
VAR_036597 commonName VAR_036597
VAR_036598 comment A colorectal cancer sample
VAR_036598 commonName VAR_036598
VAR_036599 comment A breast cancer sample
VAR_036599 commonName VAR_036599
VAR_036600 comment A colorectal cancer sample
VAR_036600 commonName VAR_036600
VAR_036601 comment A breast cancer sample
VAR_036601 commonName VAR_036601
VAR_036602 comment A colorectal cancer sample
VAR_036602 commonName VAR_036602
VAR_036603 comment A breast cancer sample
VAR_036603 commonName VAR_036603
VAR_036604 comment A breast cancer sample
VAR_036604 commonName VAR_036604
VAR_036605 comment A breast cancer sample
VAR_036605 commonName VAR_036605
VAR_036606 comment A breast cancer sample
VAR_036606 commonName VAR_036606
VAR_036607 comment A breast cancer sample
VAR_036607 commonName VAR_036607
VAR_036608 comment A breast cancer sample
VAR_036608 commonName VAR_036608
VAR_036609 comment A breast cancer sample
VAR_036609 commonName VAR_036609
VAR_036610 comment A breast cancer sample
VAR_036610 commonName VAR_036610
VAR_036611 comment A breast cancer sample
VAR_036611 commonName VAR_036611
VAR_036612 comment A breast cancer sample
VAR_036612 commonName VAR_036612
VAR_036613 comment A breast cancer sample
VAR_036613 commonName VAR_036613
VAR_036614 comment A colorectal cancer sample
VAR_036614 commonName VAR_036614
VAR_036615 comment A colorectal cancer sample
VAR_036615 commonName VAR_036615
VAR_036616 comment A breast cancer sample
VAR_036616 commonName VAR_036616
VAR_036617 commonName VAR_036617
VAR_036617 disease not phenotype-associated
VAR_036618 commonName VAR_036618
VAR_036618 disease not phenotype-associated
VAR_036619 commonName VAR_036619
VAR_036619 disease not phenotype-associated
VAR_036620 commonName VAR_036620
VAR_036620 disease not phenotype-associated
VAR_036621 commonName VAR_036621
VAR_036621 disease not phenotype-associated
VAR_036622 commonName VAR_036622
VAR_036622 disease not phenotype-associated
VAR_036623 commonName VAR_036623
VAR_036623 disease not phenotype-associated
VAR_036624 commonName VAR_036624
VAR_036624 disease not phenotype-associated
VAR_036626 commonName VAR_036626
VAR_036626 disease phenotype-associated
VAR_036626 phenoCommon Meckel syndrome type 10 (MKS10) [MIM:614175]
VAR_036627 commonName VAR_036627
VAR_036627 disease not phenotype-associated
VAR_036628 commonName VAR_036628
VAR_036628 disease not phenotype-associated
VAR_036629 commonName VAR_036629
VAR_036629 disease not phenotype-associated
VAR_036630 commonName VAR_036630
VAR_036630 disease not phenotype-associated
VAR_036631 commonName VAR_036631
VAR_036631 disease not phenotype-associated
VAR_036632 commonName VAR_036632
VAR_036632 disease not phenotype-associated
VAR_036633 commonName VAR_036633
VAR_036633 disease not phenotype-associated
VAR_036634 commonName VAR_036634
VAR_036634 disease not phenotype-associated
VAR_036635 commonName VAR_036635
VAR_036635 disease not phenotype-associated
VAR_036636 commonName VAR_036636
VAR_036636 disease phenotype-associated
VAR_036636 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548]
VAR_036637 commonName VAR_036637
VAR_036637 disease not phenotype-associated
VAR_036638 commonName VAR_036638
VAR_036638 disease not phenotype-associated
VAR_036639 commonName VAR_036639
VAR_036639 disease not phenotype-associated
VAR_036640 commonName VAR_036640
VAR_036640 disease not phenotype-associated
VAR_036641 comment A colorectal cancer sample
VAR_036641 commonName VAR_036641
VAR_036642 commonName VAR_036642
VAR_036642 disease not phenotype-associated
VAR_036643 commonName VAR_036643
VAR_036643 disease not phenotype-associated
VAR_036644 commonName VAR_036644
VAR_036644 disease not phenotype-associated
VAR_036645 commonName VAR_036645
VAR_036645 disease not phenotype-associated
VAR_036646 commonName VAR_036646
VAR_036646 disease phenotype-associated
VAR_036646 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_036647 commonName VAR_036647
VAR_036647 disease phenotype-associated
VAR_036647 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_036648 commonName VAR_036648
VAR_036648 disease phenotype-associated
VAR_036648 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_036649 commonName VAR_036649
VAR_036649 disease phenotype-associated
VAR_036649 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_036650 commonName VAR_036650
VAR_036650 disease phenotype-associated
VAR_036650 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
VAR_036651 commonName VAR_036651
VAR_036651 disease not phenotype-associated
VAR_036652 commonName VAR_036652
VAR_036652 disease not phenotype-associated
VAR_036653 commonName VAR_036653
VAR_036653 disease not phenotype-associated
VAR_036654 commonName VAR_036654
VAR_036654 disease not phenotype-associated
VAR_036655 commonName VAR_036655
VAR_036655 disease not phenotype-associated
VAR_036656 commonName VAR_036656
VAR_036656 disease not phenotype-associated
VAR_036657 commonName VAR_036657
VAR_036657 disease not phenotype-associated
VAR_036658 commonName VAR_036658
VAR_036658 disease not phenotype-associated
VAR_036659 commonName VAR_036659
VAR_036659 disease not phenotype-associated
VAR_036660 commonName VAR_036660
VAR_036660 disease phenotype-associated
VAR_036660 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036661 commonName VAR_036661
VAR_036661 disease phenotype-associated
VAR_036661 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036662 commonName VAR_036662
VAR_036662 disease phenotype-associated
VAR_036662 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_036663 commonName VAR_036663
VAR_036663 disease not phenotype-associated
VAR_036664 commonName VAR_036664
VAR_036664 disease phenotype-associated
VAR_036664 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036665 commonName VAR_036665
VAR_036665 disease phenotype-associated
VAR_036665 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_036666 commonName VAR_036666
VAR_036666 disease phenotype-associated
VAR_036666 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036666 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_036667 commonName VAR_036667
VAR_036667 disease phenotype-associated
VAR_036667 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036668 commonName VAR_036668
VAR_036668 disease phenotype-associated
VAR_036668 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_036669 commonName VAR_036669
VAR_036669 disease phenotype-associated
VAR_036669 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_036670 commonName VAR_036670
VAR_036670 disease not phenotype-associated
VAR_036671 commonName VAR_036671
VAR_036671 disease not phenotype-associated
VAR_036672 commonName VAR_036672
VAR_036672 disease not phenotype-associated
VAR_036673 commonName VAR_036673
VAR_036673 disease not phenotype-associated
VAR_036674 commonName VAR_036674
VAR_036675 commonName VAR_036675
VAR_036675 disease phenotype-associated
VAR_036675 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_036676 commonName VAR_036676
VAR_036684 commonName VAR_036684
VAR_036684 disease not phenotype-associated
VAR_036685 commonName VAR_036685
VAR_036685 disease not phenotype-associated
VAR_036689 commonName VAR_036689
VAR_036689 disease not phenotype-associated
VAR_036690 commonName VAR_036690
VAR_036690 disease not phenotype-associated
VAR_036691 commonName VAR_036691
VAR_036691 disease not phenotype-associated
VAR_036692 commonName VAR_036692
VAR_036692 disease not phenotype-associated
VAR_036693 commonName VAR_036693
VAR_036693 disease not phenotype-associated
VAR_036694 commonName VAR_036694
VAR_036694 disease not phenotype-associated
VAR_036695 commonName VAR_036695
VAR_036695 disease not phenotype-associated
VAR_036696 commonName VAR_036696
VAR_036696 disease not phenotype-associated
VAR_036697 commonName VAR_036697
VAR_036697 disease not phenotype-associated
VAR_036699 commonName VAR_036699
VAR_036699 disease not phenotype-associated
VAR_036700 commonName VAR_036700
VAR_036700 disease not phenotype-associated
VAR_036702 comment Ovarian cancer
VAR_036702 commonName VAR_036702
VAR_036703 comment Ovarian cancer
VAR_036703 commonName VAR_036703
VAR_036707 commonName VAR_036707
VAR_036707 disease not phenotype-associated
VAR_036708 commonName VAR_036708
VAR_036708 disease not phenotype-associated
VAR_036709 commonName VAR_036709
VAR_036709 disease not phenotype-associated
VAR_036710 commonName VAR_036710
VAR_036710 disease not phenotype-associated
VAR_036712 commonName VAR_036712
VAR_036712 disease not phenotype-associated
VAR_036714 commonName VAR_036714
VAR_036714 disease not phenotype-associated
VAR_036715 commonName VAR_036715
VAR_036715 disease not phenotype-associated
VAR_036716 commonName VAR_036716
VAR_036716 disease not phenotype-associated
VAR_036717 commonName VAR_036717
VAR_036717 disease not phenotype-associated
VAR_036718 commonName VAR_036718
VAR_036718 disease not phenotype-associated
VAR_036719 commonName VAR_036719
VAR_036719 disease not phenotype-associated
VAR_036720 commonName VAR_036720
VAR_036720 disease not phenotype-associated
VAR_036721 commonName VAR_036721
VAR_036721 disease phenotype-associated
VAR_036721 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150]
VAR_036722 commonName VAR_036722
VAR_036722 disease not phenotype-associated
VAR_036723 commonName VAR_036723
VAR_036723 disease phenotype-associated
VAR_036723 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150]
VAR_036724 commonName VAR_036724
VAR_036724 disease phenotype-associated
VAR_036724 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150]
VAR_036725 commonName VAR_036725
VAR_036725 disease phenotype-associated
VAR_036725 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150]
VAR_036726 commonName VAR_036726
VAR_036726 disease not phenotype-associated
VAR_036727 commonName VAR_036727
VAR_036728 commonName VAR_036728
VAR_036729 commonName VAR_036729
VAR_036730 commonName VAR_036730
VAR_036730 disease phenotype-associated
VAR_036730 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150]
VAR_036731 commonName VAR_036731
VAR_036732 commonName VAR_036732
VAR_036732 disease not phenotype-associated
VAR_036738 commonName VAR_036738
VAR_036738 disease not phenotype-associated
VAR_036739 commonName VAR_036739
VAR_036739 disease not phenotype-associated
VAR_036740 commonName VAR_036740
VAR_036740 disease not phenotype-associated
VAR_036747 commonName VAR_036747
VAR_036747 disease not phenotype-associated
VAR_036748 commonName VAR_036748
VAR_036748 disease not phenotype-associated
VAR_036750 commonName VAR_036750
VAR_036750 disease not phenotype-associated
VAR_036751 commonName VAR_036751
VAR_036751 disease not phenotype-associated
VAR_036752 commonName VAR_036752
VAR_036752 disease not phenotype-associated
VAR_036753 comment A breast cancer sample
VAR_036753 commonName VAR_036753
VAR_036754 commonName VAR_036754
VAR_036754 disease not phenotype-associated
VAR_036755 commonName VAR_036755
VAR_036755 disease not phenotype-associated
VAR_036756 commonName VAR_036756
VAR_036756 disease not phenotype-associated
VAR_036757 commonName VAR_036757
VAR_036757 disease not phenotype-associated
VAR_036758 commonName VAR_036758
VAR_036758 disease not phenotype-associated
VAR_036759 commonName VAR_036759
VAR_036759 disease not phenotype-associated
VAR_036760 commonName VAR_036760
VAR_036760 disease not phenotype-associated
VAR_036761 commonName VAR_036761
VAR_036761 disease not phenotype-associated
VAR_036762 commonName VAR_036762
VAR_036762 disease not phenotype-associated
VAR_036763 commonName VAR_036763
VAR_036763 disease not phenotype-associated
VAR_036765 commonName VAR_036765
VAR_036765 disease not phenotype-associated
VAR_036766 commonName VAR_036766
VAR_036766 disease not phenotype-associated
VAR_036769 commonName VAR_036769
VAR_036769 disease not phenotype-associated
VAR_036770 commonName VAR_036770
VAR_036770 disease not phenotype-associated
VAR_036771 commonName VAR_036771
VAR_036771 disease not phenotype-associated
VAR_036772 commonName VAR_036772
VAR_036772 disease not phenotype-associated
VAR_036773 commonName VAR_036773
VAR_036773 disease not phenotype-associated
VAR_036774 commonName VAR_036774
VAR_036774 disease not phenotype-associated
VAR_036776 commonName VAR_036776
VAR_036776 disease not phenotype-associated
VAR_036777 commonName VAR_036777
VAR_036777 disease not phenotype-associated
VAR_036778 comment A colorectal cancer sample
VAR_036778 commonName VAR_036778
VAR_036779 commonName VAR_036779
VAR_036779 disease not phenotype-associated
VAR_036780 commonName VAR_036780
VAR_036780 disease not phenotype-associated
VAR_036781 commonName VAR_036781
VAR_036781 disease not phenotype-associated
VAR_036782 commonName VAR_036782
VAR_036782 disease not phenotype-associated
VAR_036783 commonName VAR_036783
VAR_036783 disease not phenotype-associated
VAR_036784 commonName VAR_036784
VAR_036784 disease not phenotype-associated
VAR_036785 commonName VAR_036785
VAR_036785 disease not phenotype-associated
VAR_036786 commonName VAR_036786
VAR_036786 disease not phenotype-associated
VAR_036787 commonName VAR_036787
VAR_036787 disease not phenotype-associated
VAR_036788 commonName VAR_036788
VAR_036788 disease not phenotype-associated
VAR_036789 commonName VAR_036789
VAR_036789 disease not phenotype-associated
VAR_036790 commonName VAR_036790
VAR_036790 disease not phenotype-associated
VAR_036791 commonName VAR_036791
VAR_036791 disease not phenotype-associated
VAR_036794 commonName VAR_036794
VAR_036794 disease not phenotype-associated
VAR_036795 commonName VAR_036795
VAR_036795 disease not phenotype-associated
VAR_036796 commonName VAR_036796
VAR_036796 disease not phenotype-associated
VAR_036797 commonName VAR_036797
VAR_036797 disease not phenotype-associated
VAR_036798 commonName VAR_036798
VAR_036798 disease not phenotype-associated
VAR_036799 commonName VAR_036799
VAR_036799 disease not phenotype-associated
VAR_036801 commonName VAR_036801
VAR_036801 disease not phenotype-associated
VAR_036802 commonName VAR_036802
VAR_036802 disease not phenotype-associated
VAR_036803 commonName VAR_036803
VAR_036803 disease not phenotype-associated
VAR_036804 commonName VAR_036804
VAR_036804 disease not phenotype-associated
VAR_036805 commonName VAR_036805
VAR_036805 disease phenotype-associated
VAR_036805 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_036806 commonName VAR_036806
VAR_036806 disease phenotype-associated
VAR_036806 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_036807 commonName VAR_036807
VAR_036807 disease phenotype-associated
VAR_036807 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_036808 commonName VAR_036808
VAR_036808 disease phenotype-associated
VAR_036808 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_036810 commonName VAR_036810
VAR_036810 disease phenotype-associated
VAR_036810 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]
VAR_036811 commonName VAR_036811
VAR_036811 disease not phenotype-associated
VAR_036812 commonName VAR_036812
VAR_036812 disease not phenotype-associated
VAR_036813 commonName VAR_036813
VAR_036813 disease not phenotype-associated
VAR_036814 commonName VAR_036814
VAR_036814 disease not phenotype-associated
VAR_036815 commonName VAR_036815
VAR_036815 disease not phenotype-associated
VAR_036816 commonName VAR_036816
VAR_036816 disease not phenotype-associated
VAR_036817 commonName VAR_036817
VAR_036817 disease not phenotype-associated
VAR_036818 commonName VAR_036818
VAR_036818 disease not phenotype-associated
VAR_036819 commonName VAR_036819
VAR_036819 disease not phenotype-associated
VAR_036820 commonName VAR_036820
VAR_036820 disease not phenotype-associated
VAR_036821 commonName VAR_036821
VAR_036821 disease not phenotype-associated
VAR_036823 commonName VAR_036823
VAR_036823 disease not phenotype-associated
VAR_036824 commonName VAR_036824
VAR_036824 disease not phenotype-associated
VAR_036825 commonName VAR_036825
VAR_036825 disease not phenotype-associated
VAR_036826 commonName VAR_036826
VAR_036826 disease not phenotype-associated
VAR_036827 commonName VAR_036827
VAR_036827 disease not phenotype-associated
VAR_036828 commonName VAR_036828
VAR_036828 disease not phenotype-associated
VAR_036829 commonName VAR_036829
VAR_036829 disease not phenotype-associated
VAR_036830 commonName VAR_036830
VAR_036830 disease not phenotype-associated
VAR_036831 commonName VAR_036831
VAR_036831 disease not phenotype-associated
VAR_036833 commonName VAR_036833
VAR_036833 disease not phenotype-associated
VAR_036834 commonName VAR_036834
VAR_036834 disease not phenotype-associated
VAR_036835 commonName VAR_036835
VAR_036835 disease not phenotype-associated
VAR_036836 commonName VAR_036836
VAR_036836 disease not phenotype-associated
VAR_036837 commonName VAR_036837
VAR_036837 disease not phenotype-associated
VAR_036838 commonName VAR_036838
VAR_036838 disease not phenotype-associated
VAR_036841 commonName VAR_036841
VAR_036841 disease not phenotype-associated
VAR_036842 commonName VAR_036842
VAR_036842 disease not phenotype-associated
VAR_036843 commonName VAR_036843
VAR_036843 disease not phenotype-associated
VAR_036844 commonName VAR_036844
VAR_036844 disease not phenotype-associated
VAR_036845 commonName VAR_036845
VAR_036845 disease not phenotype-associated
VAR_036846 commonName VAR_036846
VAR_036846 disease not phenotype-associated
VAR_036847 commonName VAR_036847
VAR_036847 disease not phenotype-associated
VAR_036848 commonName VAR_036848
VAR_036848 disease not phenotype-associated
VAR_036849 commonName VAR_036849
VAR_036849 disease not phenotype-associated
VAR_036852 commonName VAR_036852
VAR_036852 disease not phenotype-associated
VAR_036853 commonName VAR_036853
VAR_036853 disease not phenotype-associated
VAR_036854 commonName VAR_036854
VAR_036854 disease not phenotype-associated
VAR_036855 commonName VAR_036855
VAR_036855 disease phenotype-associated
VAR_036855 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]
VAR_036857 commonName VAR_036857
VAR_036857 disease not phenotype-associated
VAR_036858 commonName VAR_036858
VAR_036858 disease not phenotype-associated
VAR_036859 commonName VAR_036859
VAR_036859 disease phenotype-associated
VAR_036859 phenoCommon Deafness autosomal recessive type 24 (DFNB24) [MIM:611022]
VAR_036860 commonName VAR_036860
VAR_036860 disease not phenotype-associated
VAR_036861 commonName VAR_036861
VAR_036861 disease phenotype-associated
VAR_036861 phenoCommon Dentin dysplasia type 2 (DTDP2) [MIM:125420]
VAR_036862 commonName VAR_036862
VAR_036863 commonName VAR_036863
VAR_036863 disease phenotype-associated
VAR_036863 phenoCommon Susceptibilty to aplastic anemia (AA) [MIM:609135]
VAR_036864 commonName VAR_036864
VAR_036864 disease not phenotype-associated
VAR_036866 commonName VAR_036866
VAR_036867 commonName VAR_036867
VAR_036868 commonName VAR_036868
VAR_036869 commonName VAR_036869
VAR_036869 disease phenotype-associated
VAR_036869 phenoCommon Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989]
VAR_036870 commonName VAR_036870
VAR_036871 commonName VAR_036871
VAR_036871 disease not phenotype-associated
VAR_036872 commonName VAR_036872
VAR_036872 disease not phenotype-associated
VAR_036874 commonName VAR_036874
VAR_036874 disease not phenotype-associated
VAR_036878 commonName VAR_036878
VAR_036878 disease not phenotype-associated
VAR_036879 commonName VAR_036879
VAR_036879 disease not phenotype-associated
VAR_036881 commonName VAR_036881
VAR_036881 disease not phenotype-associated
VAR_036882 commonName VAR_036882
VAR_036882 disease not phenotype-associated
VAR_036883 commonName VAR_036883
VAR_036883 disease not phenotype-associated
VAR_036884 comment A colorectal cancer sample
VAR_036884 commonName VAR_036884
VAR_036885 commonName VAR_036885
VAR_036885 disease not phenotype-associated
VAR_036886 commonName VAR_036886
VAR_036886 disease not phenotype-associated
VAR_036887 commonName VAR_036887
VAR_036887 disease not phenotype-associated
VAR_036888 commonName VAR_036888
VAR_036888 disease not phenotype-associated
VAR_036889 commonName VAR_036889
VAR_036889 disease not phenotype-associated
VAR_036890 commonName VAR_036890
VAR_036890 disease not phenotype-associated
VAR_036891 commonName VAR_036891
VAR_036891 disease not phenotype-associated
VAR_036892 commonName VAR_036892
VAR_036892 disease not phenotype-associated
VAR_036893 commonName VAR_036893
VAR_036893 disease not phenotype-associated
VAR_036894 commonName VAR_036894
VAR_036894 disease not phenotype-associated
VAR_036895 commonName VAR_036895
VAR_036895 disease not phenotype-associated
VAR_036896 commonName VAR_036896
VAR_036896 disease not phenotype-associated
VAR_036897 commonName VAR_036897
VAR_036897 disease not phenotype-associated
VAR_036903 commonName VAR_036903
VAR_036903 disease not phenotype-associated
VAR_036904 commonName VAR_036904
VAR_036904 disease not phenotype-associated
VAR_036905 commonName VAR_036905
VAR_036905 disease not phenotype-associated
VAR_036906 commonName VAR_036906
VAR_036906 disease not phenotype-associated
VAR_036907 commonName VAR_036907
VAR_036907 disease not phenotype-associated
VAR_036908 commonName VAR_036908
VAR_036908 disease not phenotype-associated
VAR_036909 commonName VAR_036909
VAR_036909 disease not phenotype-associated
VAR_036910 commonName VAR_036910
VAR_036910 disease not phenotype-associated
VAR_036911 commonName VAR_036911
VAR_036911 disease not phenotype-associated
VAR_036912 commonName VAR_036912
VAR_036912 disease not phenotype-associated
VAR_036913 commonName VAR_036913
VAR_036913 disease not phenotype-associated
VAR_036915 commonName VAR_036915
VAR_036915 disease not phenotype-associated
VAR_036916 commonName VAR_036916
VAR_036916 disease not phenotype-associated
VAR_036917 commonName VAR_036917
VAR_036917 disease not phenotype-associated
VAR_036926 commonName VAR_036926
VAR_036926 disease not phenotype-associated
VAR_036927 commonName VAR_036927
VAR_036927 disease not phenotype-associated
VAR_036928 commonName VAR_036928
VAR_036928 disease not phenotype-associated
VAR_036929 commonName VAR_036929
VAR_036929 disease not phenotype-associated
VAR_036930 commonName VAR_036930
VAR_036930 disease not phenotype-associated
VAR_036931 commonName VAR_036931
VAR_036931 disease not phenotype-associated
VAR_036933 commonName VAR_036933
VAR_036933 disease not phenotype-associated
VAR_036934 commonName VAR_036934
VAR_036934 disease not phenotype-associated
VAR_036935 commonName VAR_036935
VAR_036935 disease not phenotype-associated
VAR_036936 commonName VAR_036936
VAR_036936 disease not phenotype-associated
VAR_036937 commonName VAR_036937
VAR_036937 disease not phenotype-associated
VAR_036938 commonName VAR_036938
VAR_036938 disease not phenotype-associated
VAR_036939 commonName VAR_036939
VAR_036939 disease not phenotype-associated
VAR_036941 commonName VAR_036941
VAR_036941 disease phenotype-associated
VAR_036941 phenoCommon Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]
VAR_036942 commonName VAR_036942
VAR_036942 disease phenotype-associated
VAR_036942 phenoCommon Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]
VAR_036943 commonName VAR_036943
VAR_036943 disease phenotype-associated
VAR_036943 phenoCommon ARTS syndrome (ARTS) [MIM:301835]
VAR_036944 commonName VAR_036944
VAR_036944 disease phenotype-associated
VAR_036944 phenoCommon ARTS syndrome (ARTS) [MIM:301835]
VAR_036945 commonName VAR_036945
VAR_036945 disease not phenotype-associated
VAR_036946 commonName VAR_036946
VAR_036946 disease not phenotype-associated
VAR_036950 commonName VAR_036950
VAR_036950 disease not phenotype-associated
VAR_036951 commonName VAR_036951
VAR_036951 disease not phenotype-associated
VAR_036952 commonName VAR_036952
VAR_036952 disease not phenotype-associated
VAR_036953 commonName VAR_036953
VAR_036953 disease not phenotype-associated
VAR_036954 commonName VAR_036954
VAR_036954 disease not phenotype-associated
VAR_036955 commonName VAR_036955
VAR_036955 disease not phenotype-associated
VAR_036956 commonName VAR_036956
VAR_036956 disease not phenotype-associated
VAR_036957 commonName VAR_036957
VAR_036957 disease not phenotype-associated
VAR_036958 commonName VAR_036958
VAR_036958 disease not phenotype-associated
VAR_036961 commonName VAR_036961
VAR_036961 disease not phenotype-associated
VAR_036962 commonName VAR_036962
VAR_036962 disease not phenotype-associated
VAR_036963 commonName VAR_036963
VAR_036963 disease not phenotype-associated
VAR_036964 commonName VAR_036964
VAR_036964 disease not phenotype-associated
VAR_036965 commonName VAR_036965
VAR_036965 disease not phenotype-associated
VAR_036966 commonName VAR_036966
VAR_036966 disease not phenotype-associated
VAR_036969 commonName VAR_036969
VAR_036969 disease not phenotype-associated
VAR_036970 commonName VAR_036970
VAR_036970 disease not phenotype-associated
VAR_036971 commonName VAR_036971
VAR_036971 disease not phenotype-associated
VAR_036972 commonName VAR_036972
VAR_036972 disease not phenotype-associated
VAR_036973 commonName VAR_036973
VAR_036973 disease not phenotype-associated
VAR_036974 commonName VAR_036974
VAR_036974 disease phenotype-associated
VAR_036974 phenoCommon Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]
VAR_036975 comment A breast cancer sample
VAR_036975 commonName VAR_036975
VAR_036976 commonName VAR_036976
VAR_036976 disease not phenotype-associated
VAR_036978 comment A breast cancer sample
VAR_036978 commonName VAR_036978
VAR_036979 commonName VAR_036979
VAR_036979 disease not phenotype-associated
VAR_036980 commonName VAR_036980
VAR_036980 disease not phenotype-associated
VAR_036981 commonName VAR_036981
VAR_036981 disease not phenotype-associated
VAR_036982 commonName VAR_036982
VAR_036982 disease not phenotype-associated
VAR_036983 commonName VAR_036983
VAR_036983 disease not phenotype-associated
VAR_036984 commonName VAR_036984
VAR_036984 disease not phenotype-associated
VAR_036985 commonName VAR_036985
VAR_036985 disease not phenotype-associated
VAR_036986 commonName VAR_036986
VAR_036986 disease not phenotype-associated
VAR_036987 commonName VAR_036987
VAR_036987 disease not phenotype-associated
VAR_036988 commonName VAR_036988
VAR_036988 disease not phenotype-associated
VAR_036989 commonName VAR_036989
VAR_036989 disease not phenotype-associated
VAR_036990 commonName VAR_036990
VAR_036990 disease not phenotype-associated
VAR_036991 commonName VAR_036991
VAR_036991 disease not phenotype-associated
VAR_036992 commonName VAR_036992
VAR_036992 disease not phenotype-associated
VAR_036993 commonName VAR_036993
VAR_036993 disease not phenotype-associated
VAR_036994 commonName VAR_036994
VAR_036994 disease not phenotype-associated
VAR_036995 commonName VAR_036995
VAR_036995 disease phenotype-associated
VAR_036995 phenoCommon Atrial septal defect type 4 (ASD4) [MIM:611363]
VAR_036996 commonName VAR_036996
VAR_036996 disease phenotype-associated
VAR_036996 phenoCommon Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]
VAR_036997 commonName VAR_036997
VAR_036997 disease phenotype-associated
VAR_036997 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_036998 commonName VAR_036998
VAR_036998 disease phenotype-associated
VAR_036998 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_036999 commonName VAR_036999
VAR_036999 disease phenotype-associated
VAR_036999 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_037000 commonName VAR_037000
VAR_037000 disease phenotype-associated
VAR_037000 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_037001 commonName VAR_037001
VAR_037001 disease phenotype-associated
VAR_037001 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377]
VAR_037002 comment A breast cancer sample
VAR_037002 commonName VAR_037002
VAR_037004 commonName VAR_037004
VAR_037004 disease not phenotype-associated
VAR_037007 commonName VAR_037007
VAR_037007 disease phenotype-associated
VAR_037007 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
VAR_037009 commonName VAR_037009
VAR_037009 disease not phenotype-associated
VAR_037010 commonName VAR_037010
VAR_037010 disease not phenotype-associated
VAR_037011 commonName VAR_037011
VAR_037011 disease not phenotype-associated
VAR_037012 commonName VAR_037012
VAR_037012 disease not phenotype-associated
VAR_037013 commonName VAR_037013
VAR_037013 disease phenotype-associated
VAR_037013 phenoCommon Donnai-Barrow syndrome (DBS) [MIM:222448]
VAR_037014 commonName VAR_037014
VAR_037014 disease not phenotype-associated
VAR_037015 commonName VAR_037015
VAR_037015 disease phenotype-associated
VAR_037015 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037016 commonName VAR_037016
VAR_037016 disease phenotype-associated
VAR_037016 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037017 commonName VAR_037017
VAR_037017 disease phenotype-associated
VAR_037017 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037018 commonName VAR_037018
VAR_037018 disease phenotype-associated
VAR_037018 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037019 commonName VAR_037019
VAR_037019 disease phenotype-associated
VAR_037019 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037020 commonName VAR_037020
VAR_037020 disease phenotype-associated
VAR_037020 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037021 commonName VAR_037021
VAR_037021 disease phenotype-associated
VAR_037021 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037022 commonName VAR_037022
VAR_037022 disease phenotype-associated
VAR_037022 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037023 commonName VAR_037023
VAR_037023 disease phenotype-associated
VAR_037023 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037024 commonName VAR_037024
VAR_037024 disease phenotype-associated
VAR_037024 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037025 commonName VAR_037025
VAR_037025 disease phenotype-associated
VAR_037025 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
VAR_037026 commonName VAR_037026
VAR_037026 disease phenotype-associated
VAR_037026 phenoCommon Retinitis pigmentosa type 37 (RP37) [MIM:611131]
VAR_037027 commonName VAR_037027
VAR_037027 disease not phenotype-associated
VAR_037028 commonName VAR_037028
VAR_037028 disease not phenotype-associated
VAR_037029 commonName VAR_037029
VAR_037029 disease not phenotype-associated
VAR_037030 commonName VAR_037030
VAR_037030 disease not phenotype-associated
VAR_037031 commonName VAR_037031
VAR_037031 disease not phenotype-associated
VAR_037032 commonName VAR_037032
VAR_037032 disease not phenotype-associated
VAR_037033 commonName VAR_037033
VAR_037033 disease not phenotype-associated
VAR_037034 commonName VAR_037034
VAR_037034 disease not phenotype-associated
VAR_037035 commonName VAR_037035
VAR_037035 disease not phenotype-associated
VAR_037036 commonName VAR_037036
VAR_037036 disease not phenotype-associated
VAR_037038 commonName VAR_037038
VAR_037038 disease not phenotype-associated
VAR_037039 commonName VAR_037039
VAR_037039 disease not phenotype-associated
VAR_037040 commonName VAR_037040
VAR_037040 disease not phenotype-associated
VAR_037041 commonName VAR_037041
VAR_037041 disease not phenotype-associated
VAR_037042 commonName VAR_037042
VAR_037042 disease not phenotype-associated
VAR_037043 commonName VAR_037043
VAR_037043 disease not phenotype-associated
VAR_037044 commonName VAR_037044
VAR_037044 disease not phenotype-associated
VAR_037045 commonName VAR_037045
VAR_037045 disease not phenotype-associated
VAR_037046 commonName VAR_037046
VAR_037046 disease not phenotype-associated
VAR_037047 commonName VAR_037047
VAR_037047 disease not phenotype-associated
VAR_037048 commonName VAR_037048
VAR_037048 disease not phenotype-associated
VAR_037049 commonName VAR_037049
VAR_037049 disease not phenotype-associated
VAR_037050 commonName VAR_037050
VAR_037050 disease not phenotype-associated
VAR_037051 commonName VAR_037051
VAR_037051 disease not phenotype-associated
VAR_037052 commonName VAR_037052
VAR_037052 disease not phenotype-associated
VAR_037053 commonName VAR_037053
VAR_037053 disease not phenotype-associated
VAR_037054 commonName VAR_037054
VAR_037054 disease not phenotype-associated
VAR_037055 commonName VAR_037055
VAR_037055 disease not phenotype-associated
VAR_037056 commonName VAR_037056
VAR_037056 disease not phenotype-associated
VAR_037057 commonName VAR_037057
VAR_037057 disease not phenotype-associated
VAR_037058 commonName VAR_037058
VAR_037058 disease not phenotype-associated
VAR_037059 commonName VAR_037059
VAR_037059 disease not phenotype-associated
VAR_037060 commonName VAR_037060
VAR_037060 disease not phenotype-associated
VAR_037061 commonName VAR_037061
VAR_037061 disease not phenotype-associated
VAR_037062 commonName VAR_037062
VAR_037062 disease not phenotype-associated
VAR_037063 commonName VAR_037063
VAR_037063 disease not phenotype-associated
VAR_037064 commonName VAR_037064
VAR_037064 disease not phenotype-associated
VAR_037065 commonName VAR_037065
VAR_037065 disease not phenotype-associated
VAR_037066 commonName VAR_037066
VAR_037066 disease not phenotype-associated
VAR_037067 commonName VAR_037067
VAR_037067 disease not phenotype-associated
VAR_037075 commonName VAR_037075
VAR_037075 disease not phenotype-associated
VAR_037076 commonName VAR_037076
VAR_037076 disease not phenotype-associated
VAR_037077 commonName VAR_037077
VAR_037077 disease not phenotype-associated
VAR_037078 commonName VAR_037078
VAR_037078 disease not phenotype-associated
VAR_037079 commonName VAR_037079
VAR_037079 disease not phenotype-associated
VAR_037080 commonName VAR_037080
VAR_037080 disease not phenotype-associated
VAR_037081 commonName VAR_037081
VAR_037081 disease not phenotype-associated
VAR_037082 commonName VAR_037082
VAR_037082 disease not phenotype-associated
VAR_037083 commonName VAR_037083
VAR_037083 disease phenotype-associated
VAR_037083 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210]
VAR_037084 commonName VAR_037084
VAR_037084 disease not phenotype-associated
VAR_037085 commonName VAR_037085
VAR_037085 disease not phenotype-associated
VAR_037087 commonName VAR_037087
VAR_037087 disease not phenotype-associated
VAR_037088 commonName VAR_037088
VAR_037088 disease not phenotype-associated
VAR_037089 commonName VAR_037089
VAR_037089 disease not phenotype-associated
VAR_037090 commonName VAR_037090
VAR_037090 disease not phenotype-associated
VAR_037091 commonName VAR_037091
VAR_037091 disease not phenotype-associated
VAR_037092 commonName VAR_037092
VAR_037092 disease not phenotype-associated
VAR_037093 commonName VAR_037093
VAR_037093 disease not phenotype-associated
VAR_037094 commonName VAR_037094
VAR_037094 disease not phenotype-associated
VAR_037095 commonName VAR_037095
VAR_037095 disease not phenotype-associated
VAR_037096 commonName VAR_037096
VAR_037096 disease not phenotype-associated
VAR_037097 commonName VAR_037097
VAR_037097 disease not phenotype-associated
VAR_037098 commonName VAR_037098
VAR_037098 disease not phenotype-associated
VAR_037099 commonName VAR_037099
VAR_037099 disease not phenotype-associated
VAR_037100 commonName VAR_037100
VAR_037100 disease phenotype-associated
VAR_037100 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120]
VAR_037101 commonName VAR_037101
VAR_037101 disease phenotype-associated
VAR_037101 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120]
VAR_037102 commonName VAR_037102
VAR_037102 disease phenotype-associated
VAR_037102 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120]
VAR_037103 commonName VAR_037103
VAR_037103 disease phenotype-associated
VAR_037103 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120]
VAR_037104 commonName VAR_037104
VAR_037104 disease phenotype-associated
VAR_037104 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_037105 commonName VAR_037105
VAR_037105 disease phenotype-associated
VAR_037105 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_037106 commonName VAR_037106
VAR_037106 disease phenotype-associated
VAR_037106 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_037107 commonName VAR_037107
VAR_037107 disease phenotype-associated
VAR_037107 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_037108 commonName VAR_037108
VAR_037108 disease not phenotype-associated
VAR_037109 commonName VAR_037109
VAR_037109 disease not phenotype-associated
VAR_037110 commonName VAR_037110
VAR_037110 disease not phenotype-associated
VAR_037111 commonName VAR_037111
VAR_037111 disease not phenotype-associated
VAR_037112 commonName VAR_037112
VAR_037112 disease not phenotype-associated
VAR_037113 commonName VAR_037113
VAR_037113 disease not phenotype-associated
VAR_037114 commonName VAR_037114
VAR_037114 disease not phenotype-associated
VAR_037115 commonName VAR_037115
VAR_037115 disease not phenotype-associated
VAR_037116 commonName VAR_037116
VAR_037116 disease not phenotype-associated
VAR_037117 commonName VAR_037117
VAR_037117 disease not phenotype-associated
VAR_037118 commonName VAR_037118
VAR_037118 disease not phenotype-associated
VAR_037119 commonName VAR_037119
VAR_037119 disease not phenotype-associated
VAR_037120 commonName VAR_037120
VAR_037120 disease not phenotype-associated
VAR_037121 commonName VAR_037121
VAR_037121 disease not phenotype-associated
VAR_037122 commonName VAR_037122
VAR_037122 disease not phenotype-associated
VAR_037123 commonName VAR_037123
VAR_037123 disease not phenotype-associated
VAR_037124 commonName VAR_037124
VAR_037124 disease not phenotype-associated
VAR_037125 commonName VAR_037125
VAR_037125 disease not phenotype-associated
VAR_037126 commonName VAR_037126
VAR_037126 disease not phenotype-associated
VAR_037127 commonName VAR_037127
VAR_037127 disease not phenotype-associated
VAR_037128 commonName VAR_037128
VAR_037128 disease not phenotype-associated
VAR_037129 commonName VAR_037129
VAR_037129 disease not phenotype-associated
VAR_037130 commonName VAR_037130
VAR_037130 disease not phenotype-associated
VAR_037131 commonName VAR_037131
VAR_037131 disease not phenotype-associated
VAR_037132 commonName VAR_037132
VAR_037132 disease not phenotype-associated
VAR_037133 commonName VAR_037133
VAR_037133 disease not phenotype-associated
VAR_037136 commonName VAR_037136
VAR_037136 disease not phenotype-associated
VAR_037137 commonName VAR_037137
VAR_037137 disease not phenotype-associated
VAR_037138 commonName VAR_037138
VAR_037138 disease not phenotype-associated
VAR_037139 commonName VAR_037139
VAR_037139 disease not phenotype-associated
VAR_037140 commonName VAR_037140
VAR_037140 disease phenotype-associated
VAR_037140 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
VAR_037141 commonName VAR_037141
VAR_037141 disease not phenotype-associated
VAR_037142 commonName VAR_037142
VAR_037142 disease not phenotype-associated
VAR_037145 commonName VAR_037145
VAR_037145 disease not phenotype-associated
VAR_037146 commonName VAR_037146
VAR_037146 disease not phenotype-associated
VAR_037147 commonName VAR_037147
VAR_037147 disease not phenotype-associated
VAR_037148 commonName VAR_037148
VAR_037148 disease not phenotype-associated
VAR_037149 commonName VAR_037149
VAR_037149 disease not phenotype-associated
VAR_037151 commonName VAR_037151
VAR_037151 disease not phenotype-associated
VAR_037152 commonName VAR_037152
VAR_037152 disease not phenotype-associated
VAR_037153 commonName VAR_037153
VAR_037153 disease not phenotype-associated
VAR_037154 commonName VAR_037154
VAR_037154 disease not phenotype-associated
VAR_037155 commonName VAR_037155
VAR_037155 disease not phenotype-associated
VAR_037156 commonName VAR_037156
VAR_037156 disease not phenotype-associated
VAR_037162 commonName VAR_037162
VAR_037162 disease not phenotype-associated
VAR_037163 commonName VAR_037163
VAR_037163 disease not phenotype-associated
VAR_037164 commonName VAR_037164
VAR_037164 disease not phenotype-associated
VAR_037165 commonName VAR_037165
VAR_037165 disease not phenotype-associated
VAR_037167 commonName VAR_037167
VAR_037167 disease not phenotype-associated
VAR_037168 commonName VAR_037168
VAR_037168 disease phenotype-associated
VAR_037168 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]
VAR_037169 commonName VAR_037169
VAR_037169 disease phenotype-associated
VAR_037169 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]
VAR_037170 commonName VAR_037170
VAR_037170 disease phenotype-associated
VAR_037170 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]
VAR_037171 commonName VAR_037171
VAR_037171 disease not phenotype-associated
VAR_037172 commonName VAR_037172
VAR_037172 disease not phenotype-associated
VAR_037173 commonName VAR_037173
VAR_037173 disease not phenotype-associated
VAR_037176 commonName VAR_037176
VAR_037176 disease not phenotype-associated
VAR_037177 commonName VAR_037177
VAR_037177 disease phenotype-associated
VAR_037177 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_037178 commonName VAR_037178
VAR_037178 disease not phenotype-associated
VAR_037179 commonName VAR_037179
VAR_037179 disease not phenotype-associated
VAR_037180 commonName VAR_037180
VAR_037180 disease phenotype-associated
VAR_037180 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_037188 commonName VAR_037188
VAR_037188 disease not phenotype-associated
VAR_037189 commonName VAR_037189
VAR_037189 disease not phenotype-associated
VAR_037190 commonName VAR_037190
VAR_037190 disease not phenotype-associated
VAR_037191 commonName VAR_037191
VAR_037191 disease not phenotype-associated
VAR_037192 commonName VAR_037192
VAR_037192 disease not phenotype-associated
VAR_037193 commonName VAR_037193
VAR_037193 disease not phenotype-associated
VAR_037194 commonName VAR_037194
VAR_037194 disease not phenotype-associated
VAR_037195 commonName VAR_037195
VAR_037195 disease not phenotype-associated
VAR_037196 comment A breast cancer sample
VAR_037196 commonName VAR_037196
VAR_037197 commonName VAR_037197
VAR_037197 disease not phenotype-associated
VAR_037198 comment A breast cancer sample
VAR_037198 commonName VAR_037198
VAR_037199 commonName VAR_037199
VAR_037199 disease not phenotype-associated
VAR_037203 commonName VAR_037203
VAR_037203 disease not phenotype-associated
VAR_037204 commonName VAR_037204
VAR_037204 disease not phenotype-associated
VAR_037205 commonName VAR_037205
VAR_037205 disease not phenotype-associated
VAR_037206 commonName VAR_037206
VAR_037206 disease not phenotype-associated
VAR_037207 commonName VAR_037207
VAR_037207 disease not phenotype-associated
VAR_037208 commonName VAR_037208
VAR_037208 disease not phenotype-associated
VAR_037209 commonName VAR_037209
VAR_037209 disease not phenotype-associated
VAR_037210 commonName VAR_037210
VAR_037210 disease not phenotype-associated
VAR_037211 commonName VAR_037211
VAR_037211 disease not phenotype-associated
VAR_037212 commonName VAR_037212
VAR_037212 disease not phenotype-associated
VAR_037213 commonName VAR_037213
VAR_037213 disease not phenotype-associated
VAR_037214 commonName VAR_037214
VAR_037214 disease not phenotype-associated
VAR_037215 commonName VAR_037215
VAR_037215 disease not phenotype-associated
VAR_037216 commonName VAR_037216
VAR_037216 disease not phenotype-associated
VAR_037217 commonName VAR_037217
VAR_037217 disease not phenotype-associated
VAR_037218 commonName VAR_037218
VAR_037218 disease not phenotype-associated
VAR_037219 commonName VAR_037219
VAR_037219 disease not phenotype-associated
VAR_037220 commonName VAR_037220
VAR_037220 disease not phenotype-associated
VAR_037221 commonName VAR_037221
VAR_037221 disease not phenotype-associated
VAR_037222 comment A breast cancer sample
VAR_037222 commonName VAR_037222
VAR_037223 commonName VAR_037223
VAR_037223 disease not phenotype-associated
VAR_037224 commonName VAR_037224
VAR_037224 disease not phenotype-associated
VAR_037225 commonName VAR_037225
VAR_037225 disease not phenotype-associated
VAR_037226 commonName VAR_037226
VAR_037226 disease not phenotype-associated
VAR_037227 commonName VAR_037227
VAR_037227 disease not phenotype-associated
VAR_037228 commonName VAR_037228
VAR_037228 disease not phenotype-associated
VAR_037229 comment A breast cancer sample
VAR_037229 commonName VAR_037229
VAR_037230 commonName VAR_037230
VAR_037230 disease not phenotype-associated
VAR_037231 commonName VAR_037231
VAR_037231 disease not phenotype-associated
VAR_037232 commonName VAR_037232
VAR_037232 disease not phenotype-associated
VAR_037233 commonName VAR_037233
VAR_037233 disease not phenotype-associated
VAR_037234 commonName VAR_037234
VAR_037234 disease not phenotype-associated
VAR_037235 commonName VAR_037235
VAR_037235 disease not phenotype-associated
VAR_037236 commonName VAR_037236
VAR_037236 disease not phenotype-associated
VAR_037237 commonName VAR_037237
VAR_037237 disease not phenotype-associated
VAR_037238 commonName VAR_037238
VAR_037238 disease not phenotype-associated
VAR_037245 commonName VAR_037245
VAR_037245 disease not phenotype-associated
VAR_037246 commonName VAR_037246
VAR_037246 disease not phenotype-associated
VAR_037247 commonName VAR_037247
VAR_037247 disease not phenotype-associated
VAR_037248 commonName VAR_037248
VAR_037248 disease not phenotype-associated
VAR_037249 commonName VAR_037249
VAR_037249 disease not phenotype-associated
VAR_037250 commonName VAR_037250
VAR_037250 disease not phenotype-associated
VAR_037251 commonName VAR_037251
VAR_037251 disease not phenotype-associated
VAR_037252 commonName VAR_037252
VAR_037252 disease phenotype-associated
VAR_037252 phenoCommon Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]
VAR_037253 commonName VAR_037253
VAR_037253 disease not phenotype-associated
VAR_037254 commonName VAR_037254
VAR_037254 disease not phenotype-associated
VAR_037255 commonName VAR_037255
VAR_037255 disease not phenotype-associated
VAR_037257 commonName VAR_037257
VAR_037257 disease not phenotype-associated
VAR_037258 commonName VAR_037258
VAR_037258 disease not phenotype-associated
VAR_037259 commonName VAR_037259
VAR_037259 disease not phenotype-associated
VAR_037260 commonName VAR_037260
VAR_037260 disease not phenotype-associated
VAR_037261 commonName VAR_037261
VAR_037261 disease not phenotype-associated
VAR_037262 commonName VAR_037262
VAR_037262 disease not phenotype-associated
VAR_037263 commonName VAR_037263
VAR_037263 disease not phenotype-associated
VAR_037264 commonName VAR_037264
VAR_037264 disease not phenotype-associated
VAR_037266 commonName VAR_037266
VAR_037266 disease not phenotype-associated
VAR_037267 commonName VAR_037267
VAR_037267 disease not phenotype-associated
VAR_037268 commonName VAR_037268
VAR_037268 disease not phenotype-associated
VAR_037269 commonName VAR_037269
VAR_037269 disease not phenotype-associated
VAR_037270 commonName VAR_037270
VAR_037270 disease not phenotype-associated
VAR_037271 commonName VAR_037271
VAR_037271 disease not phenotype-associated
VAR_037272 commonName VAR_037272
VAR_037272 disease not phenotype-associated
VAR_037273 commonName VAR_037273
VAR_037273 disease not phenotype-associated
VAR_037274 commonName VAR_037274
VAR_037274 disease not phenotype-associated
VAR_037275 commonName VAR_037275
VAR_037275 disease not phenotype-associated
VAR_037276 commonName VAR_037276
VAR_037276 disease not phenotype-associated
VAR_037277 commonName VAR_037277
VAR_037277 disease not phenotype-associated
VAR_037278 commonName VAR_037278
VAR_037278 disease not phenotype-associated
VAR_037284 commonName VAR_037284
VAR_037284 disease not phenotype-associated
VAR_037285 commonName VAR_037285
VAR_037285 disease not phenotype-associated
VAR_037286 commonName VAR_037286
VAR_037286 disease not phenotype-associated
VAR_037287 commonName VAR_037287
VAR_037287 disease not phenotype-associated
VAR_037288 commonName VAR_037288
VAR_037288 disease not phenotype-associated
VAR_037289 commonName VAR_037289
VAR_037289 disease not phenotype-associated
VAR_037290 commonName VAR_037290
VAR_037290 disease not phenotype-associated
VAR_037295 commonName VAR_037295
VAR_037295 disease not phenotype-associated
VAR_037296 commonName VAR_037296
VAR_037296 disease not phenotype-associated
VAR_037300 commonName VAR_037300
VAR_037300 disease phenotype-associated
VAR_037300 phenoCommon Subcortical band heterotopia (SBH) [MIM:607432]
VAR_037301 commonName VAR_037301
VAR_037301 disease phenotype-associated
VAR_037301 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432]
VAR_037302 commonName VAR_037302
VAR_037302 disease phenotype-associated
VAR_037302 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]
VAR_037304 commonName VAR_037304
VAR_037304 disease phenotype-associated
VAR_037304 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_037305 commonName VAR_037305
VAR_037305 disease phenotype-associated
VAR_037305 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
VAR_037306 commonName VAR_037306
VAR_037306 disease phenotype-associated
VAR_037306 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_037307 commonName VAR_037307
VAR_037307 disease phenotype-associated
VAR_037307 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_037308 commonName VAR_037308
VAR_037308 disease phenotype-associated
VAR_037308 phenoCommon Trimethylaminuria (TMAU) [MIM:602079]
VAR_037309 commonName VAR_037309
VAR_037309 disease not phenotype-associated
VAR_037310 commonName VAR_037310
VAR_037310 disease phenotype-associated
VAR_037310 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_037311 commonName VAR_037311
VAR_037311 disease phenotype-associated
VAR_037311 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
VAR_037312 commonName VAR_037312
VAR_037312 disease not phenotype-associated
VAR_037313 commonName VAR_037313
VAR_037313 disease not phenotype-associated
VAR_037314 commonName VAR_037314
VAR_037314 disease not phenotype-associated
VAR_037317 commonName VAR_037317
VAR_037318 commonName VAR_037318
VAR_037318 disease phenotype-associated
VAR_037318 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_037319 commonName VAR_037319
VAR_037319 disease phenotype-associated
VAR_037319 phenoCommon Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
VAR_037320 commonName VAR_037320
VAR_037320 disease phenotype-associated
VAR_037320 phenoCommon Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
VAR_037325 commonName VAR_037325
VAR_037325 disease not phenotype-associated
VAR_037326 commonName VAR_037326
VAR_037326 disease not phenotype-associated
VAR_037327 commonName VAR_037327
VAR_037327 disease not phenotype-associated
VAR_037331 commonName VAR_037331
VAR_037331 disease not phenotype-associated
VAR_037332 commonName VAR_037332
VAR_037332 disease not phenotype-associated
VAR_037333 commonName VAR_037333
VAR_037333 disease not phenotype-associated
VAR_037334 commonName VAR_037334
VAR_037334 disease not phenotype-associated
VAR_037335 commonName VAR_037335
VAR_037335 disease not phenotype-associated
VAR_037336 commonName VAR_037336
VAR_037336 disease not phenotype-associated
VAR_037337 commonName VAR_037337
VAR_037337 disease not phenotype-associated
VAR_037338 commonName VAR_037338
VAR_037338 disease not phenotype-associated
VAR_037339 commonName VAR_037339
VAR_037339 disease not phenotype-associated
VAR_037340 commonName VAR_037340
VAR_037340 disease not phenotype-associated
VAR_037341 commonName VAR_037341
VAR_037341 disease not phenotype-associated
VAR_037342 commonName VAR_037342
VAR_037342 disease not phenotype-associated
VAR_037343 commonName VAR_037343
VAR_037343 disease not phenotype-associated
VAR_037344 commonName VAR_037344
VAR_037344 disease not phenotype-associated
VAR_037345 commonName VAR_037345
VAR_037345 disease not phenotype-associated
VAR_037346 commonName VAR_037346
VAR_037346 disease not phenotype-associated
VAR_037347 commonName VAR_037347
VAR_037347 disease not phenotype-associated
VAR_037348 commonName VAR_037348
VAR_037348 disease not phenotype-associated
VAR_037350 commonName VAR_037350
VAR_037350 disease not phenotype-associated
VAR_037351 commonName VAR_037351
VAR_037351 disease not phenotype-associated
VAR_037352 commonName VAR_037352
VAR_037352 disease not phenotype-associated
VAR_037353 commonName VAR_037353
VAR_037353 disease not phenotype-associated
VAR_037354 commonName VAR_037354
VAR_037354 disease not phenotype-associated
VAR_037355 commonName VAR_037355
VAR_037355 disease not phenotype-associated
VAR_037357 commonName VAR_037357
VAR_037357 disease not phenotype-associated
VAR_037358 commonName VAR_037358
VAR_037358 disease not phenotype-associated
VAR_037359 commonName VAR_037359
VAR_037359 disease not phenotype-associated
VAR_037360 commonName VAR_037360
VAR_037360 disease not phenotype-associated
VAR_037361 commonName VAR_037361
VAR_037361 disease not phenotype-associated
VAR_037362 commonName VAR_037362
VAR_037362 disease not phenotype-associated
VAR_037363 commonName VAR_037363
VAR_037363 disease not phenotype-associated
VAR_037364 commonName VAR_037364
VAR_037364 disease not phenotype-associated
VAR_037365 commonName VAR_037365
VAR_037365 disease phenotype-associated
VAR_037365 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037366 commonName VAR_037366
VAR_037366 disease phenotype-associated
VAR_037366 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037367 commonName VAR_037367
VAR_037367 disease phenotype-associated
VAR_037367 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037368 commonName VAR_037368
VAR_037368 disease phenotype-associated
VAR_037368 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037369 commonName VAR_037369
VAR_037369 disease phenotype-associated
VAR_037369 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037370 commonName VAR_037370
VAR_037370 disease phenotype-associated
VAR_037370 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037371 commonName VAR_037371
VAR_037371 disease phenotype-associated
VAR_037371 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037372 commonName VAR_037372
VAR_037372 disease phenotype-associated
VAR_037372 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037374 commonName VAR_037374
VAR_037374 disease not phenotype-associated
VAR_037375 commonName VAR_037375
VAR_037375 disease phenotype-associated
VAR_037375 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037376 commonName VAR_037376
VAR_037376 disease phenotype-associated
VAR_037376 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037377 commonName VAR_037377
VAR_037377 disease phenotype-associated
VAR_037377 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037378 commonName VAR_037378
VAR_037378 disease phenotype-associated
VAR_037378 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037379 commonName VAR_037379
VAR_037379 disease phenotype-associated
VAR_037379 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037381 commonName VAR_037381
VAR_037381 disease phenotype-associated
VAR_037381 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]
VAR_037382 commonName VAR_037382
VAR_037382 disease not phenotype-associated
VAR_037383 commonName VAR_037383
VAR_037383 disease not phenotype-associated
VAR_037385 commonName VAR_037385
VAR_037385 disease not phenotype-associated
VAR_037386 commonName VAR_037386
VAR_037386 disease not phenotype-associated
VAR_037387 commonName VAR_037387
VAR_037387 disease not phenotype-associated
VAR_037388 commonName VAR_037388
VAR_037388 disease not phenotype-associated
VAR_037389 commonName VAR_037389
VAR_037389 disease not phenotype-associated
VAR_037390 commonName VAR_037390
VAR_037390 disease not phenotype-associated
VAR_037391 commonName VAR_037391
VAR_037391 disease not phenotype-associated
VAR_037392 commonName VAR_037392
VAR_037392 disease not phenotype-associated
VAR_037393 commonName VAR_037393
VAR_037393 disease not phenotype-associated
VAR_037394 commonName VAR_037394
VAR_037394 disease not phenotype-associated
VAR_037395 commonName VAR_037395
VAR_037395 disease not phenotype-associated
VAR_037403 commonName VAR_037403
VAR_037403 disease not phenotype-associated
VAR_037404 commonName VAR_037404
VAR_037404 disease not phenotype-associated
VAR_037405 commonName VAR_037405
VAR_037405 disease not phenotype-associated
VAR_037419 commonName VAR_037419
VAR_037419 disease not phenotype-associated
VAR_037420 commonName VAR_037420
VAR_037420 disease not phenotype-associated
VAR_037421 commonName VAR_037421
VAR_037421 disease not phenotype-associated
VAR_037422 commonName VAR_037422
VAR_037422 disease not phenotype-associated
VAR_037423 commonName VAR_037423
VAR_037423 disease not phenotype-associated
VAR_037424 commonName VAR_037424
VAR_037424 disease phenotype-associated
VAR_037424 phenoCommon Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]
VAR_037425 commonName VAR_037425
VAR_037425 disease phenotype-associated
VAR_037425 phenoCommon Centronuclear myopathy type 2 (CNM2) [MIM:255200]
VAR_037426 commonName VAR_037426
VAR_037426 disease phenotype-associated
VAR_037426 phenoCommon Centronuclear myopathy type 2 (CNM2) [MIM:255200]
VAR_037427 commonName VAR_037427
VAR_037427 disease phenotype-associated
VAR_037427 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_037428 commonName VAR_037428
VAR_037428 disease phenotype-associated
VAR_037428 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_037429 commonName VAR_037429
VAR_037429 disease phenotype-associated
VAR_037429 phenoCommon Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]
VAR_037430 commonName VAR_037430
VAR_037430 disease phenotype-associated
VAR_037430 phenoCommon Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
VAR_037431 commonName VAR_037431
VAR_037431 disease not phenotype-associated
VAR_037432 commonName VAR_037432
VAR_037432 disease not phenotype-associated
VAR_037433 commonName VAR_037433
VAR_037433 disease phenotype-associated
VAR_037433 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_037434 commonName VAR_037434
VAR_037435 commonName VAR_037435
VAR_037435 disease not phenotype-associated
VAR_037438 commonName VAR_037438
VAR_037438 disease phenotype-associated
VAR_037438 phenoCommon Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]
VAR_037441 commonName VAR_037441
VAR_037441 disease phenotype-associated
VAR_037441 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777]
VAR_037442 commonName VAR_037442
VAR_037442 disease phenotype-associated
VAR_037442 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777]
VAR_037443 commonName VAR_037443
VAR_037443 disease phenotype-associated
VAR_037443 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777]
VAR_037444 commonName VAR_037444
VAR_037444 disease phenotype-associated
VAR_037444 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777]
VAR_037445 commonName VAR_037445
VAR_037445 disease phenotype-associated
VAR_037445 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777]
VAR_037446 commonName VAR_037446
VAR_037446 disease not phenotype-associated
VAR_037447 commonName VAR_037447
VAR_037447 disease not phenotype-associated
VAR_037448 commonName VAR_037448
VAR_037448 disease not phenotype-associated
VAR_037449 commonName VAR_037449
VAR_037449 disease not phenotype-associated
VAR_037450 commonName VAR_037450
VAR_037450 disease not phenotype-associated
VAR_037451 commonName VAR_037451
VAR_037451 disease not phenotype-associated
VAR_037452 commonName VAR_037452
VAR_037452 disease not phenotype-associated
VAR_037453 commonName VAR_037453
VAR_037453 disease not phenotype-associated
VAR_037454 comment A colorectal cancer sample
VAR_037454 commonName VAR_037454
VAR_037455 commonName VAR_037455
VAR_037455 disease not phenotype-associated
VAR_037456 commonName VAR_037456
VAR_037456 disease not phenotype-associated
VAR_037457 commonName VAR_037457
VAR_037457 disease not phenotype-associated
VAR_037458 commonName VAR_037458
VAR_037458 disease not phenotype-associated
VAR_037459 commonName VAR_037459
VAR_037459 disease not phenotype-associated
VAR_037460 commonName VAR_037460
VAR_037460 disease not phenotype-associated
VAR_037461 commonName VAR_037461
VAR_037461 disease not phenotype-associated
VAR_037462 commonName VAR_037462
VAR_037462 disease not phenotype-associated
VAR_037463 commonName VAR_037463
VAR_037463 disease not phenotype-associated
VAR_037464 commonName VAR_037464
VAR_037464 disease not phenotype-associated
VAR_037465 commonName VAR_037465
VAR_037465 disease not phenotype-associated
VAR_037466 commonName VAR_037466
VAR_037466 disease not phenotype-associated
VAR_037467 commonName VAR_037467
VAR_037467 disease not phenotype-associated
VAR_037468 comment A breast cancer sample
VAR_037468 commonName VAR_037468
VAR_037469 commonName VAR_037469
VAR_037469 disease not phenotype-associated
VAR_037470 commonName VAR_037470
VAR_037470 disease not phenotype-associated
VAR_037471 commonName VAR_037471
VAR_037471 disease not phenotype-associated
VAR_037472 commonName VAR_037472
VAR_037472 disease not phenotype-associated
VAR_037473 commonName VAR_037473
VAR_037473 disease not phenotype-associated
VAR_037474 commonName VAR_037474
VAR_037474 disease not phenotype-associated
VAR_037475 commonName VAR_037475
VAR_037475 disease not phenotype-associated
VAR_037476 commonName VAR_037476
VAR_037476 disease not phenotype-associated
VAR_037477 commonName VAR_037477
VAR_037477 disease not phenotype-associated
VAR_037478 commonName VAR_037478
VAR_037478 disease not phenotype-associated
VAR_037479 commonName VAR_037479
VAR_037479 disease not phenotype-associated
VAR_037480 commonName VAR_037480
VAR_037480 disease not phenotype-associated
VAR_037481 commonName VAR_037481
VAR_037481 disease not phenotype-associated
VAR_037482 commonName VAR_037482
VAR_037482 disease not phenotype-associated
VAR_037483 commonName VAR_037483
VAR_037483 disease not phenotype-associated
VAR_037484 commonName VAR_037484
VAR_037484 disease not phenotype-associated
VAR_037485 commonName VAR_037485
VAR_037485 disease not phenotype-associated
VAR_037486 commonName VAR_037486
VAR_037486 disease not phenotype-associated
VAR_037487 comment A colorectal cancer sample
VAR_037487 commonName VAR_037487
VAR_037488 comment A colorectal cancer sample
VAR_037488 commonName VAR_037488
VAR_037489 commonName VAR_037489
VAR_037489 disease not phenotype-associated
VAR_037490 commonName VAR_037490
VAR_037490 disease not phenotype-associated
VAR_037491 commonName VAR_037491
VAR_037491 disease not phenotype-associated
VAR_037492 commonName VAR_037492
VAR_037492 disease not phenotype-associated
VAR_037494 commonName VAR_037494
VAR_037494 disease not phenotype-associated
VAR_037495 commonName VAR_037495
VAR_037495 disease not phenotype-associated
VAR_037497 commonName VAR_037497
VAR_037497 disease not phenotype-associated
VAR_037498 commonName VAR_037498
VAR_037498 disease not phenotype-associated
VAR_037499 commonName VAR_037499
VAR_037499 disease not phenotype-associated
VAR_037500 commonName VAR_037500
VAR_037500 disease not phenotype-associated
VAR_037501 commonName VAR_037501
VAR_037501 disease not phenotype-associated
VAR_037502 commonName VAR_037502
VAR_037502 disease not phenotype-associated
VAR_037503 commonName VAR_037503
VAR_037503 disease not phenotype-associated
VAR_037504 commonName VAR_037504
VAR_037504 disease not phenotype-associated
VAR_037505 commonName VAR_037505
VAR_037505 disease not phenotype-associated
VAR_037506 commonName VAR_037506
VAR_037506 disease not phenotype-associated
VAR_037507 commonName VAR_037507
VAR_037507 disease not phenotype-associated
VAR_037508 commonName VAR_037508
VAR_037508 disease not phenotype-associated
VAR_037509 commonName VAR_037509
VAR_037509 disease not phenotype-associated
VAR_037510 commonName VAR_037510
VAR_037510 disease not phenotype-associated
VAR_037511 commonName VAR_037511
VAR_037511 disease not phenotype-associated
VAR_037512 commonName VAR_037512
VAR_037512 disease not phenotype-associated
VAR_037513 commonName VAR_037513
VAR_037513 disease not phenotype-associated
VAR_037516 commonName VAR_037516
VAR_037516 disease not phenotype-associated
VAR_037517 commonName VAR_037517
VAR_037517 disease not phenotype-associated
VAR_037518 commonName VAR_037518
VAR_037518 disease not phenotype-associated
VAR_037519 commonName VAR_037519
VAR_037519 disease not phenotype-associated
VAR_037520 comment A breast cancer sample
VAR_037520 commonName VAR_037520
VAR_037521 commonName VAR_037521
VAR_037521 disease not phenotype-associated
VAR_037522 commonName VAR_037522
VAR_037522 disease not phenotype-associated
VAR_037523 commonName VAR_037523
VAR_037523 disease not phenotype-associated
VAR_037524 commonName VAR_037524
VAR_037524 disease not phenotype-associated
VAR_037525 commonName VAR_037525
VAR_037525 disease not phenotype-associated
VAR_037526 commonName VAR_037526
VAR_037526 disease not phenotype-associated
VAR_037527 comment A breast cancer sample
VAR_037527 commonName VAR_037527
VAR_037528 commonName VAR_037528
VAR_037528 disease not phenotype-associated
VAR_037529 commonName VAR_037529
VAR_037529 disease not phenotype-associated
VAR_037530 commonName VAR_037530
VAR_037530 disease phenotype-associated
VAR_037530 phenoCommon Raine syndrome (RNS) [MIM:259775]
VAR_037531 commonName VAR_037531
VAR_037531 disease phenotype-associated
VAR_037531 phenoCommon Raine syndrome (RNS) [MIM:259775]
VAR_037532 commonName VAR_037532
VAR_037532 disease phenotype-associated
VAR_037532 phenoCommon Raine syndrome (RNS) [MIM:259775]
VAR_037533 commonName VAR_037533
VAR_037533 disease phenotype-associated
VAR_037533 phenoCommon Raine syndrome (RNS) [MIM:259775]
VAR_037534 commonName VAR_037534
VAR_037534 disease phenotype-associated
VAR_037534 phenoCommon Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]
VAR_037535 commonName VAR_037535
VAR_037535 disease not phenotype-associated
VAR_037536 commonName VAR_037536
VAR_037536 disease not phenotype-associated
VAR_037537 commonName VAR_037537
VAR_037537 disease not phenotype-associated
VAR_037538 commonName VAR_037538
VAR_037538 disease not phenotype-associated
VAR_037539 commonName VAR_037539
VAR_037539 disease not phenotype-associated
VAR_037543 commonName VAR_037543
VAR_037543 disease not phenotype-associated
VAR_037544 commonName VAR_037544
VAR_037544 disease not phenotype-associated
VAR_037545 commonName VAR_037545
VAR_037545 disease not phenotype-associated
VAR_037547 commonName VAR_037547
VAR_037547 disease not phenotype-associated
VAR_037548 commonName VAR_037548
VAR_037548 disease not phenotype-associated
VAR_037549 commonName VAR_037549
VAR_037549 disease not phenotype-associated
VAR_037550 commonName VAR_037550
VAR_037550 disease not phenotype-associated
VAR_037551 commonName VAR_037551
VAR_037551 disease not phenotype-associated
VAR_037552 comment A colorectal cancer sample
VAR_037552 commonName VAR_037552
VAR_037553 commonName VAR_037553
VAR_037553 disease not phenotype-associated
VAR_037554 commonName VAR_037554
VAR_037554 disease not phenotype-associated
VAR_037555 commonName VAR_037555
VAR_037555 disease not phenotype-associated
VAR_037556 commonName VAR_037556
VAR_037556 disease not phenotype-associated
VAR_037557 commonName VAR_037557
VAR_037557 disease not phenotype-associated
VAR_037558 commonName VAR_037558
VAR_037558 disease not phenotype-associated
VAR_037559 commonName VAR_037559
VAR_037559 disease not phenotype-associated
VAR_037560 commonName VAR_037560
VAR_037560 disease not phenotype-associated
VAR_037561 commonName VAR_037561
VAR_037562 commonName VAR_037562
VAR_037563 commonName VAR_037563
VAR_037564 commonName VAR_037564
VAR_037565 commonName VAR_037565
VAR_037565 disease not phenotype-associated
VAR_037566 commonName VAR_037566
VAR_037567 commonName VAR_037567
VAR_037568 commonName VAR_037568
VAR_037568 disease not phenotype-associated
VAR_037569 commonName VAR_037569
VAR_037569 disease not phenotype-associated
VAR_037570 commonName VAR_037570
VAR_037570 disease not phenotype-associated
VAR_037571 commonName VAR_037571
VAR_037571 disease not phenotype-associated
VAR_037572 commonName VAR_037572
VAR_037572 disease not phenotype-associated
VAR_037573 commonName VAR_037573
VAR_037573 disease not phenotype-associated
VAR_037574 commonName VAR_037574
VAR_037574 disease not phenotype-associated
VAR_037576 commonName VAR_037576
VAR_037576 disease phenotype-associated
VAR_037576 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515]
VAR_037577 commonName VAR_037577
VAR_037577 disease not phenotype-associated
VAR_037578 commonName VAR_037578
VAR_037578 disease phenotype-associated
VAR_037578 phenoCommon C syndrome (CSYN) [MIM:211750]
VAR_037579 commonName VAR_037579
VAR_037579 disease phenotype-associated
VAR_037579 phenoCommon Cataract posterior polar type 3 (CTPP3) [MIM:605387]
VAR_037580 commonName VAR_037580
VAR_037580 disease phenotype-associated
VAR_037580 phenoCommon Cataract posterior polar type 3 (CTPP3) [MIM:605387]
VAR_037581 commonName VAR_037581
VAR_037581 disease phenotype-associated
VAR_037581 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
VAR_037582 commonName VAR_037582
VAR_037582 disease phenotype-associated
VAR_037582 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
VAR_037583 commonName VAR_037583
VAR_037583 disease phenotype-associated
VAR_037583 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
VAR_037584 commonName VAR_037584
VAR_037584 disease phenotype-associated
VAR_037584 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132]
VAR_037585 commonName VAR_037585
VAR_037585 disease not phenotype-associated
VAR_037586 commonName VAR_037586
VAR_037586 disease not phenotype-associated
VAR_037587 commonName VAR_037587
VAR_037587 disease not phenotype-associated
VAR_037588 commonName VAR_037588
VAR_037588 disease not phenotype-associated
VAR_037589 commonName VAR_037589
VAR_037589 disease not phenotype-associated
VAR_037590 commonName VAR_037590
VAR_037590 disease not phenotype-associated
VAR_037591 commonName VAR_037591
VAR_037591 disease not phenotype-associated
VAR_037592 commonName VAR_037592
VAR_037592 disease not phenotype-associated
VAR_037593 commonName VAR_037593
VAR_037593 disease not phenotype-associated
VAR_037594 commonName VAR_037594
VAR_037594 disease not phenotype-associated
VAR_037595 comment A colorectal cancer sample
VAR_037595 commonName VAR_037595
VAR_037596 comment A breast cancer sample
VAR_037596 commonName VAR_037596
VAR_037597 commonName VAR_037597
VAR_037597 disease not phenotype-associated
VAR_037598 comment A breast cancer sample
VAR_037598 commonName VAR_037598
VAR_037599 commonName VAR_037599
VAR_037599 disease not phenotype-associated
VAR_037600 commonName VAR_037600
VAR_037600 disease not phenotype-associated
VAR_037601 commonName VAR_037601
VAR_037601 disease not phenotype-associated
VAR_037602 comment A colorectal cancer sample
VAR_037602 commonName VAR_037602
VAR_037603 commonName VAR_037603
VAR_037603 disease not phenotype-associated
VAR_037604 commonName VAR_037604
VAR_037604 disease not phenotype-associated
VAR_037605 commonName VAR_037605
VAR_037605 disease phenotype-associated
VAR_037605 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_037606 commonName VAR_037606
VAR_037606 disease not phenotype-associated
VAR_037607 commonName VAR_037607
VAR_037607 disease not phenotype-associated
VAR_037608 commonName VAR_037608
VAR_037608 disease not phenotype-associated
VAR_037609 commonName VAR_037609
VAR_037609 disease not phenotype-associated
VAR_037610 commonName VAR_037610
VAR_037610 disease not phenotype-associated
VAR_037611 commonName VAR_037611
VAR_037611 disease not phenotype-associated
VAR_037612 commonName VAR_037612
VAR_037612 disease not phenotype-associated
VAR_037613 commonName VAR_037613
VAR_037613 disease not phenotype-associated
VAR_037614 commonName VAR_037614
VAR_037614 disease not phenotype-associated
VAR_037615 commonName VAR_037615
VAR_037615 disease not phenotype-associated
VAR_037616 commonName VAR_037616
VAR_037616 disease not phenotype-associated
VAR_037617 commonName VAR_037617
VAR_037617 disease not phenotype-associated
VAR_037618 commonName VAR_037618
VAR_037618 disease not phenotype-associated
VAR_037619 commonName VAR_037619
VAR_037619 disease phenotype-associated
VAR_037619 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_037620 commonName VAR_037620
VAR_037620 disease phenotype-associated
VAR_037620 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_037621 commonName VAR_037621
VAR_037621 disease phenotype-associated
VAR_037621 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310]
VAR_037622 commonName VAR_037622
VAR_037622 disease not phenotype-associated
VAR_037623 commonName VAR_037623
VAR_037623 disease not phenotype-associated
VAR_037624 commonName VAR_037624
VAR_037624 disease not phenotype-associated
VAR_037625 commonName VAR_037625
VAR_037625 disease not phenotype-associated
VAR_037626 commonName VAR_037626
VAR_037626 disease not phenotype-associated
VAR_037627 commonName VAR_037627
VAR_037627 disease not phenotype-associated
VAR_037628 commonName VAR_037628
VAR_037628 disease not phenotype-associated
VAR_037629 commonName VAR_037629
VAR_037629 disease not phenotype-associated
VAR_037630 commonName VAR_037630
VAR_037630 disease not phenotype-associated
VAR_037631 commonName VAR_037631
VAR_037631 disease not phenotype-associated
VAR_037632 commonName VAR_037632
VAR_037632 disease not phenotype-associated
VAR_037634 commonName VAR_037634
VAR_037634 disease not phenotype-associated
VAR_037635 commonName VAR_037635
VAR_037635 disease phenotype-associated
VAR_037635 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_037636 commonName VAR_037636
VAR_037636 disease phenotype-associated
VAR_037636 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_037638 commonName VAR_037638
VAR_037638 disease not phenotype-associated
VAR_037639 commonName VAR_037639
VAR_037639 disease not phenotype-associated
VAR_037640 comment A colorectal cancer sample
VAR_037640 commonName VAR_037640
VAR_037641 comment A colorectal cancer sample
VAR_037641 commonName VAR_037641
VAR_037642 commonName VAR_037642
VAR_037642 disease phenotype-associated
VAR_037642 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]
VAR_037646 commonName VAR_037646
VAR_037646 disease not phenotype-associated
VAR_037647 commonName VAR_037647
VAR_037647 disease not phenotype-associated
VAR_037648 commonName VAR_037648
VAR_037648 disease not phenotype-associated
VAR_037649 commonName VAR_037649
VAR_037649 disease not phenotype-associated
VAR_037650 commonName VAR_037650
VAR_037650 disease not phenotype-associated
VAR_037651 commonName VAR_037651
VAR_037651 disease not phenotype-associated
VAR_037652 commonName VAR_037652
VAR_037652 disease phenotype-associated
VAR_037652 phenoCommon Macrocephaly macrosomia facial dysmorphism syndrome (MMFD) [MIM:614192]
VAR_037653 commonName VAR_037653
VAR_037653 disease not phenotype-associated
VAR_037654 commonName VAR_037654
VAR_037654 disease not phenotype-associated
VAR_037655 commonName VAR_037655
VAR_037655 disease not phenotype-associated
VAR_037656 commonName VAR_037656
VAR_037656 disease not phenotype-associated
VAR_037657 commonName VAR_037657
VAR_037657 disease not phenotype-associated
VAR_037658 commonName VAR_037658
VAR_037658 disease not phenotype-associated
VAR_037659 commonName VAR_037659
VAR_037659 disease not phenotype-associated
VAR_037660 comment A colorectal cancer sample
VAR_037660 commonName VAR_037660
VAR_037661 commonName VAR_037661
VAR_037661 disease not phenotype-associated
VAR_037662 commonName VAR_037662
VAR_037662 disease not phenotype-associated
VAR_037663 comment A colorectal cancer sample
VAR_037663 commonName VAR_037663
VAR_037664 commonName VAR_037664
VAR_037664 disease phenotype-associated
VAR_037664 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_037665 commonName VAR_037665
VAR_037665 disease phenotype-associated
VAR_037665 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
VAR_037666 commonName VAR_037666
VAR_037666 disease phenotype-associated
VAR_037666 phenoCommon Mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676]
VAR_037667 commonName VAR_037667
VAR_037667 disease not phenotype-associated
VAR_037668 commonName VAR_037668
VAR_037668 disease not phenotype-associated
VAR_037670 commonName VAR_037670
VAR_037670 disease not phenotype-associated
VAR_037671 commonName VAR_037671
VAR_037671 disease not phenotype-associated
VAR_037672 commonName VAR_037672
VAR_037672 disease not phenotype-associated
VAR_037673 commonName VAR_037673
VAR_037673 disease not phenotype-associated
VAR_037674 commonName VAR_037674
VAR_037674 disease not phenotype-associated
VAR_037675 commonName VAR_037675
VAR_037675 disease not phenotype-associated
VAR_037676 commonName VAR_037676
VAR_037676 disease not phenotype-associated
VAR_037677 commonName VAR_037677
VAR_037677 disease not phenotype-associated
VAR_037678 commonName VAR_037678
VAR_037678 disease not phenotype-associated
VAR_037679 commonName VAR_037679
VAR_037679 disease not phenotype-associated
VAR_037680 commonName VAR_037680
VAR_037680 disease not phenotype-associated
VAR_037681 commonName VAR_037681
VAR_037681 disease not phenotype-associated
VAR_037682 commonName VAR_037682
VAR_037682 disease not phenotype-associated
VAR_037683 commonName VAR_037683
VAR_037683 disease not phenotype-associated
VAR_037684 commonName VAR_037684
VAR_037684 disease not phenotype-associated
VAR_037686 commonName VAR_037686
VAR_037686 disease not phenotype-associated
VAR_037687 commonName VAR_037687
VAR_037687 disease not phenotype-associated
VAR_037688 commonName VAR_037688
VAR_037688 disease not phenotype-associated
VAR_037689 commonName VAR_037689
VAR_037689 disease not phenotype-associated
VAR_037690 commonName VAR_037690
VAR_037690 disease not phenotype-associated
VAR_037691 commonName VAR_037691
VAR_037691 disease not phenotype-associated
VAR_037692 commonName VAR_037692
VAR_037692 disease not phenotype-associated
VAR_037693 commonName VAR_037693
VAR_037693 disease not phenotype-associated
VAR_037694 commonName VAR_037694
VAR_037694 disease not phenotype-associated
VAR_037695 commonName VAR_037695
VAR_037695 disease not phenotype-associated
VAR_037696 commonName VAR_037696
VAR_037696 disease not phenotype-associated
VAR_037697 commonName VAR_037697
VAR_037697 disease not phenotype-associated
VAR_037698 commonName VAR_037698
VAR_037698 disease not phenotype-associated
VAR_037699 commonName VAR_037699
VAR_037699 disease not phenotype-associated
VAR_037700 commonName VAR_037700
VAR_037700 disease not phenotype-associated
VAR_037701 commonName VAR_037701
VAR_037701 disease not phenotype-associated
VAR_037703 comment A breast cancer sample
VAR_037703 commonName VAR_037703
VAR_037704 comment A breast cancer sample
VAR_037704 commonName VAR_037704
VAR_037705 commonName VAR_037705
VAR_037705 disease not phenotype-associated
VAR_037706 commonName VAR_037706
VAR_037706 disease not phenotype-associated
VAR_037707 commonName VAR_037707
VAR_037707 disease not phenotype-associated
VAR_037708 commonName VAR_037708
VAR_037708 disease not phenotype-associated
VAR_037709 commonName VAR_037709
VAR_037709 disease not phenotype-associated
VAR_037710 commonName VAR_037710
VAR_037710 disease not phenotype-associated
VAR_037711 commonName VAR_037711
VAR_037711 disease not phenotype-associated
VAR_037712 commonName VAR_037712
VAR_037712 disease not phenotype-associated
VAR_037713 commonName VAR_037713
VAR_037713 disease not phenotype-associated
VAR_037714 commonName VAR_037714
VAR_037714 disease not phenotype-associated
VAR_037715 commonName VAR_037715
VAR_037715 disease not phenotype-associated
VAR_037716 commonName VAR_037716
VAR_037716 disease not phenotype-associated
VAR_037717 commonName VAR_037717
VAR_037717 disease not phenotype-associated
VAR_037718 commonName VAR_037718
VAR_037718 disease not phenotype-associated
VAR_037719 commonName VAR_037719
VAR_037719 disease not phenotype-associated
VAR_037720 commonName VAR_037720
VAR_037720 disease not phenotype-associated
VAR_037721 commonName VAR_037721
VAR_037721 disease not phenotype-associated
VAR_037722 commonName VAR_037722
VAR_037722 disease not phenotype-associated
VAR_037723 commonName VAR_037723
VAR_037723 disease not phenotype-associated
VAR_037724 commonName VAR_037724
VAR_037724 disease not phenotype-associated
VAR_037725 commonName VAR_037725
VAR_037725 disease not phenotype-associated
VAR_037726 commonName VAR_037726
VAR_037726 disease not phenotype-associated
VAR_037727 commonName VAR_037727
VAR_037727 disease not phenotype-associated
VAR_037728 commonName VAR_037728
VAR_037728 disease not phenotype-associated
VAR_037729 commonName VAR_037729
VAR_037729 disease not phenotype-associated
VAR_037730 commonName VAR_037730
VAR_037730 disease not phenotype-associated
VAR_037731 commonName VAR_037731
VAR_037731 disease not phenotype-associated
VAR_037733 commonName VAR_037733
VAR_037733 disease phenotype-associated
VAR_037733 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037734 commonName VAR_037734
VAR_037734 disease phenotype-associated
VAR_037734 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037735 commonName VAR_037735
VAR_037735 disease phenotype-associated
VAR_037735 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037736 commonName VAR_037736
VAR_037736 disease phenotype-associated
VAR_037736 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037737 commonName VAR_037737
VAR_037737 disease phenotype-associated
VAR_037737 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037738 commonName VAR_037738
VAR_037738 disease phenotype-associated
VAR_037738 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350]
VAR_037741 commonName VAR_037741
VAR_037741 disease not phenotype-associated
VAR_037742 commonName VAR_037742
VAR_037742 disease not phenotype-associated
VAR_037743 commonName VAR_037743
VAR_037743 disease not phenotype-associated
VAR_037744 commonName VAR_037744
VAR_037744 disease not phenotype-associated
VAR_037745 commonName VAR_037745
VAR_037745 disease not phenotype-associated
VAR_037746 commonName VAR_037746
VAR_037746 disease not phenotype-associated
VAR_037747 commonName VAR_037747
VAR_037747 disease not phenotype-associated
VAR_037748 commonName VAR_037748
VAR_037748 disease not phenotype-associated
VAR_037749 commonName VAR_037749
VAR_037749 disease not phenotype-associated
VAR_037750 commonName VAR_037750
VAR_037750 disease not phenotype-associated
VAR_037751 commonName VAR_037751
VAR_037751 disease not phenotype-associated
VAR_037752 commonName VAR_037752
VAR_037752 disease not phenotype-associated
VAR_037753 commonName VAR_037753
VAR_037753 disease not phenotype-associated
VAR_037755 commonName VAR_037755
VAR_037755 disease not phenotype-associated
VAR_037756 commonName VAR_037756
VAR_037756 disease not phenotype-associated
VAR_037757 commonName VAR_037757
VAR_037757 disease not phenotype-associated
VAR_037758 commonName VAR_037758
VAR_037758 disease not phenotype-associated
VAR_037759 commonName VAR_037759
VAR_037759 disease not phenotype-associated
VAR_037760 comment A colorectal cancer sample
VAR_037760 commonName VAR_037760
VAR_037761 commonName VAR_037761
VAR_037761 disease not phenotype-associated
VAR_037762 commonName VAR_037762
VAR_037762 disease not phenotype-associated
VAR_037763 commonName VAR_037763
VAR_037763 disease not phenotype-associated
VAR_037764 commonName VAR_037764
VAR_037764 disease not phenotype-associated
VAR_037765 commonName VAR_037765
VAR_037765 disease not phenotype-associated
VAR_037766 commonName VAR_037766
VAR_037766 disease not phenotype-associated
VAR_037767 commonName VAR_037767
VAR_037767 disease not phenotype-associated
VAR_037768 commonName VAR_037768
VAR_037768 disease not phenotype-associated
VAR_037769 commonName VAR_037769
VAR_037769 disease not phenotype-associated
VAR_037770 commonName VAR_037770
VAR_037770 disease not phenotype-associated
VAR_037771 commonName VAR_037771
VAR_037771 disease not phenotype-associated
VAR_037772 commonName VAR_037772
VAR_037772 disease not phenotype-associated
VAR_037773 commonName VAR_037773
VAR_037773 disease not phenotype-associated
VAR_037774 commonName VAR_037774
VAR_037774 disease not phenotype-associated
VAR_037775 commonName VAR_037775
VAR_037775 disease not phenotype-associated
VAR_037776 commonName VAR_037776
VAR_037776 disease not phenotype-associated
VAR_037778 commonName VAR_037778
VAR_037778 disease not phenotype-associated
VAR_037779 commonName VAR_037779
VAR_037779 disease not phenotype-associated
VAR_037780 commonName VAR_037780
VAR_037781 commonName VAR_037781
VAR_037781 disease not phenotype-associated
VAR_037782 commonName VAR_037782
VAR_037783 commonName VAR_037783
VAR_037783 disease not phenotype-associated
VAR_037784 commonName VAR_037784
VAR_037784 disease not phenotype-associated
VAR_037785 commonName VAR_037785
VAR_037785 disease not phenotype-associated
VAR_037786 commonName VAR_037786
VAR_037786 disease not phenotype-associated
VAR_037787 commonName VAR_037787
VAR_037787 disease not phenotype-associated
VAR_037788 commonName VAR_037788
VAR_037788 disease not phenotype-associated
VAR_037789 commonName VAR_037789
VAR_037789 disease not phenotype-associated
VAR_037790 commonName VAR_037790
VAR_037790 disease not phenotype-associated
VAR_037791 commonName VAR_037791
VAR_037791 disease not phenotype-associated
VAR_037792 comment A breast cancer sample
VAR_037792 commonName VAR_037792
VAR_037793 comment A breast cancer sample
VAR_037793 commonName VAR_037793
VAR_037794 commonName VAR_037794
VAR_037794 disease not phenotype-associated
VAR_037795 commonName VAR_037795
VAR_037795 disease phenotype-associated
VAR_037795 phenoCommon Familial atrial fibrillation type 4 (ATFB4) [MIM:611493]
VAR_037796 commonName VAR_037796
VAR_037796 disease not phenotype-associated
VAR_037797 commonName VAR_037797
VAR_037797 disease not phenotype-associated
VAR_037798 commonName VAR_037798
VAR_037798 disease not phenotype-associated
VAR_037799 commonName VAR_037799
VAR_037799 disease not phenotype-associated
VAR_037800 commonName VAR_037800
VAR_037800 disease not phenotype-associated
VAR_037801 commonName VAR_037801
VAR_037801 disease not phenotype-associated
VAR_037802 commonName VAR_037802
VAR_037802 disease not phenotype-associated
VAR_037804 commonName VAR_037804
VAR_037804 disease not phenotype-associated
VAR_037805 commonName VAR_037805
VAR_037805 disease not phenotype-associated
VAR_037806 commonName VAR_037806
VAR_037806 disease phenotype-associated
VAR_037806 phenoCommon Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
VAR_037807 commonName VAR_037807
VAR_037807 disease phenotype-associated
VAR_037807 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037808 commonName VAR_037808
VAR_037808 disease phenotype-associated
VAR_037808 phenoCommon LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554]
VAR_037808 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037809 commonName VAR_037809
VAR_037809 disease phenotype-associated
VAR_037809 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037810 commonName VAR_037810
VAR_037811 commonName VAR_037811
VAR_037811 disease phenotype-associated
VAR_037811 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037812 commonName VAR_037812
VAR_037812 disease phenotype-associated
VAR_037812 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037813 commonName VAR_037813
VAR_037813 disease phenotype-associated
VAR_037813 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037814 commonName VAR_037814
VAR_037814 disease phenotype-associated
VAR_037814 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037815 commonName VAR_037815
VAR_037815 disease phenotype-associated
VAR_037815 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037816 commonName VAR_037816
VAR_037816 disease phenotype-associated
VAR_037816 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037817 commonName VAR_037817
VAR_037817 disease phenotype-associated
VAR_037817 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037818 commonName VAR_037818
VAR_037818 disease phenotype-associated
VAR_037818 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037819 commonName VAR_037819
VAR_037819 disease phenotype-associated
VAR_037819 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037820 commonName VAR_037820
VAR_037820 disease phenotype-associated
VAR_037820 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037821 commonName VAR_037821
VAR_037821 disease phenotype-associated
VAR_037821 phenoCommon LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554]
VAR_037821 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553]
VAR_037834 commonName VAR_037834
VAR_037834 disease not phenotype-associated
VAR_037835 commonName VAR_037835
VAR_037835 disease not phenotype-associated
VAR_037836 commonName VAR_037836
VAR_037836 disease not phenotype-associated
VAR_037838 commonName VAR_037838
VAR_037838 disease not phenotype-associated
VAR_037839 commonName VAR_037839
VAR_037839 disease not phenotype-associated
VAR_037840 commonName VAR_037840
VAR_037840 disease not phenotype-associated
VAR_037842 commonName VAR_037842
VAR_037842 disease not phenotype-associated
VAR_037844 commonName VAR_037844
VAR_037844 disease not phenotype-associated
VAR_037845 commonName VAR_037845
VAR_037845 disease not phenotype-associated
VAR_037846 commonName VAR_037846
VAR_037846 disease not phenotype-associated
VAR_037847 comment A breast cancer sample
VAR_037847 commonName VAR_037847
VAR_037848 commonName VAR_037848
VAR_037848 disease not phenotype-associated
VAR_037849 commonName VAR_037849
VAR_037849 disease not phenotype-associated
VAR_037850 commonName VAR_037850
VAR_037850 disease not phenotype-associated
VAR_037851 commonName VAR_037851
VAR_037851 disease not phenotype-associated
VAR_037852 commonName VAR_037852
VAR_037852 disease not phenotype-associated
VAR_037853 commonName VAR_037853
VAR_037853 disease not phenotype-associated
VAR_037854 commonName VAR_037854
VAR_037854 disease not phenotype-associated
VAR_037855 commonName VAR_037855
VAR_037855 disease not phenotype-associated
VAR_037856 commonName VAR_037856
VAR_037856 disease not phenotype-associated
VAR_037857 commonName VAR_037857
VAR_037857 disease not phenotype-associated
VAR_037858 commonName VAR_037858
VAR_037858 disease not phenotype-associated
VAR_037859 commonName VAR_037859
VAR_037859 disease not phenotype-associated
VAR_037860 commonName VAR_037860
VAR_037860 disease not phenotype-associated
VAR_037861 commonName VAR_037861
VAR_037861 disease not phenotype-associated
VAR_037865 commonName VAR_037865
VAR_037865 disease not phenotype-associated
VAR_037866 commonName VAR_037866
VAR_037866 disease not phenotype-associated
VAR_037867 commonName VAR_037867
VAR_037867 disease not phenotype-associated
VAR_037868 commonName VAR_037868
VAR_037868 disease not phenotype-associated
VAR_037869 commonName VAR_037869
VAR_037869 disease not phenotype-associated
VAR_037870 commonName VAR_037870
VAR_037870 disease not phenotype-associated
VAR_037871 commonName VAR_037871
VAR_037871 disease not phenotype-associated
VAR_037872 commonName VAR_037872
VAR_037872 disease not phenotype-associated
VAR_037873 commonName VAR_037873
VAR_037873 disease not phenotype-associated
VAR_037875 commonName VAR_037875
VAR_037875 disease not phenotype-associated
VAR_037876 commonName VAR_037876
VAR_037876 disease not phenotype-associated
VAR_037877 commonName VAR_037877
VAR_037877 disease not phenotype-associated
VAR_037878 commonName VAR_037878
VAR_037878 disease not phenotype-associated
VAR_037879 commonName VAR_037879
VAR_037879 disease not phenotype-associated
VAR_037880 commonName VAR_037880
VAR_037880 disease not phenotype-associated
VAR_037883 commonName VAR_037883
VAR_037883 disease not phenotype-associated
VAR_037884 commonName VAR_037884
VAR_037884 disease not phenotype-associated
VAR_037885 commonName VAR_037885
VAR_037885 disease not phenotype-associated
VAR_037886 commonName VAR_037886
VAR_037886 disease not phenotype-associated
VAR_037887 commonName VAR_037887
VAR_037887 disease phenotype-associated
VAR_037887 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]
VAR_037888 commonName VAR_037888
VAR_037888 disease phenotype-associated
VAR_037888 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]
VAR_037889 commonName VAR_037889
VAR_037889 disease not phenotype-associated
VAR_037891 commonName VAR_037891
VAR_037891 disease not phenotype-associated
VAR_037892 commonName VAR_037892
VAR_037892 disease not phenotype-associated
VAR_037893 commonName VAR_037893
VAR_037893 disease not phenotype-associated
VAR_037902 commonName VAR_037902
VAR_037902 disease not phenotype-associated
VAR_037903 commonName VAR_037903
VAR_037903 disease not phenotype-associated
VAR_037904 commonName VAR_037904
VAR_037904 disease phenotype-associated
VAR_037904 phenoCommon Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]
VAR_037905 commonName VAR_037905
VAR_037905 disease not phenotype-associated
VAR_037906 commonName VAR_037906
VAR_037906 disease not phenotype-associated
VAR_037907 commonName VAR_037907
VAR_037907 disease not phenotype-associated
VAR_037908 commonName VAR_037908
VAR_037908 disease phenotype-associated
VAR_037908 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_037909 commonName VAR_037909
VAR_037909 disease phenotype-associated
VAR_037909 phenoCommon Pancreatitis (PCTT) [MIM:167800]
VAR_037910 comment A breast cancer sample
VAR_037910 commonName VAR_037910
VAR_037911 commonName VAR_037911
VAR_037911 disease not phenotype-associated
VAR_037914 commonName VAR_037914
VAR_037914 disease phenotype-associated
VAR_037914 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037915 commonName VAR_037915
VAR_037915 disease phenotype-associated
VAR_037915 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037916 commonName VAR_037916
VAR_037916 disease phenotype-associated
VAR_037916 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037917 commonName VAR_037917
VAR_037917 disease phenotype-associated
VAR_037917 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037918 commonName VAR_037918
VAR_037918 disease phenotype-associated
VAR_037918 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037919 commonName VAR_037919
VAR_037920 commonName VAR_037920
VAR_037920 disease phenotype-associated
VAR_037920 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037921 commonName VAR_037921
VAR_037921 disease phenotype-associated
VAR_037921 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037922 commonName VAR_037922
VAR_037922 disease phenotype-associated
VAR_037922 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037923 commonName VAR_037923
VAR_037923 disease phenotype-associated
VAR_037923 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037924 commonName VAR_037924
VAR_037924 disease phenotype-associated
VAR_037924 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037925 commonName VAR_037925
VAR_037925 disease phenotype-associated
VAR_037925 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037926 commonName VAR_037926
VAR_037926 disease phenotype-associated
VAR_037926 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037927 commonName VAR_037927
VAR_037927 disease phenotype-associated
VAR_037927 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037928 commonName VAR_037928
VAR_037928 disease phenotype-associated
VAR_037928 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037929 commonName VAR_037929
VAR_037929 disease phenotype-associated
VAR_037929 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037930 commonName VAR_037930
VAR_037930 disease phenotype-associated
VAR_037930 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037931 commonName VAR_037931
VAR_037931 disease phenotype-associated
VAR_037931 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037932 commonName VAR_037932
VAR_037932 disease phenotype-associated
VAR_037932 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037933 commonName VAR_037933
VAR_037933 disease phenotype-associated
VAR_037933 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037934 commonName VAR_037934
VAR_037934 disease phenotype-associated
VAR_037934 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037935 commonName VAR_037935
VAR_037935 disease phenotype-associated
VAR_037935 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037936 commonName VAR_037936
VAR_037936 disease phenotype-associated
VAR_037936 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_037937 commonName VAR_037937
VAR_037937 disease phenotype-associated
VAR_037937 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_037939 commonName VAR_037939
VAR_037939 disease phenotype-associated
VAR_037939 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_037939 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_037940 commonName VAR_037940
VAR_037940 disease phenotype-associated
VAR_037940 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_037942 commonName VAR_037942
VAR_037943 commonName VAR_037943
VAR_037943 disease phenotype-associated
VAR_037943 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_037944 commonName VAR_037944
VAR_037944 disease phenotype-associated
VAR_037944 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_037945 commonName VAR_037945
VAR_037946 commonName VAR_037946
VAR_037946 disease phenotype-associated
VAR_037946 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_037947 commonName VAR_037947
VAR_037948 commonName VAR_037948
VAR_037948 disease phenotype-associated
VAR_037948 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]
VAR_037948 phenoCommon Chilblain lupus type 1 (CHBL1) [MIM:610448]
VAR_037949 commonName VAR_037949
VAR_037949 disease phenotype-associated
VAR_037949 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037950 commonName VAR_037950
VAR_037950 disease phenotype-associated
VAR_037950 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037951 commonName VAR_037951
VAR_037951 disease phenotype-associated
VAR_037951 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037952 commonName VAR_037952
VAR_037952 disease phenotype-associated
VAR_037952 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037953 commonName VAR_037953
VAR_037953 disease not phenotype-associated
VAR_037954 commonName VAR_037954
VAR_037954 disease phenotype-associated
VAR_037954 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037955 commonName VAR_037955
VAR_037955 disease phenotype-associated
VAR_037955 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037956 commonName VAR_037956
VAR_037956 disease phenotype-associated
VAR_037956 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700]
VAR_037958 commonName VAR_037958
VAR_037958 disease not phenotype-associated
VAR_037959 commonName VAR_037959
VAR_037959 disease not phenotype-associated
VAR_037960 commonName VAR_037960
VAR_037960 disease not phenotype-associated
VAR_037961 commonName VAR_037961
VAR_037962 commonName VAR_037962
VAR_037962 disease not phenotype-associated
VAR_037963 commonName VAR_037963
VAR_037963 disease not phenotype-associated
VAR_037964 commonName VAR_037964
VAR_037964 disease phenotype-associated
VAR_037964 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]
VAR_037966 commonName VAR_037966
VAR_037966 disease phenotype-associated
VAR_037966 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
VAR_037967 commonName VAR_037967
VAR_037967 disease phenotype-associated
VAR_037967 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600]
VAR_037968 commonName VAR_037968
VAR_037968 disease phenotype-associated
VAR_037968 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_037969 commonName VAR_037969
VAR_037969 disease not phenotype-associated
VAR_037970 commonName VAR_037970
VAR_037970 disease phenotype-associated
VAR_037970 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_037971 commonName VAR_037971
VAR_037971 disease phenotype-associated
VAR_037971 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_037972 commonName VAR_037972
VAR_037972 disease not phenotype-associated
VAR_037973 commonName VAR_037973
VAR_037973 disease not phenotype-associated
VAR_037974 commonName VAR_037974
VAR_037974 disease not phenotype-associated
VAR_037975 commonName VAR_037975
VAR_037975 disease not phenotype-associated
VAR_037976 commonName VAR_037976
VAR_037976 disease phenotype-associated
VAR_037976 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
VAR_037977 commonName VAR_037977
VAR_037977 disease not phenotype-associated
VAR_037978 commonName VAR_037978
VAR_037978 disease phenotype-associated
VAR_037978 phenoCommon Brachydactyly type C (BDC) [MIM:113100]
VAR_037980 commonName VAR_037980
VAR_037980 disease phenotype-associated
VAR_037980 phenoCommon Du Pan syndrome (DPS) [MIM:228900]
VAR_037981 commonName VAR_037981
VAR_037981 disease phenotype-associated
VAR_037981 phenoCommon Du Pan syndrome (DPS) [MIM:228900]
VAR_037982 commonName VAR_037982
VAR_037982 disease phenotype-associated
VAR_037982 phenoCommon Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]
VAR_037983 commonName VAR_037983
VAR_037983 disease phenotype-associated
VAR_037983 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_037984 commonName VAR_037984
VAR_037984 disease not phenotype-associated
VAR_037986 commonName VAR_037986
VAR_037986 disease not phenotype-associated
VAR_037987 commonName VAR_037987
VAR_037987 disease not phenotype-associated
VAR_037988 commonName VAR_037988
VAR_037988 disease not phenotype-associated
VAR_037989 commonName VAR_037989
VAR_037989 disease not phenotype-associated
VAR_037990 commonName VAR_037990
VAR_037990 disease not phenotype-associated
VAR_037991 commonName VAR_037991
VAR_037991 disease not phenotype-associated
VAR_037992 commonName VAR_037992
VAR_037992 disease not phenotype-associated
VAR_037993 comment A breast cancer sample
VAR_037993 commonName VAR_037993
VAR_037994 commonName VAR_037994
VAR_037994 disease not phenotype-associated
VAR_037995 commonName VAR_037995
VAR_037995 disease not phenotype-associated
VAR_037996 comment A breast cancer sample
VAR_037996 commonName VAR_037996
VAR_037998 commonName VAR_037998
VAR_037999 commonName VAR_037999
VAR_038000 commonName VAR_038000
VAR_038000 disease not phenotype-associated
VAR_038001 commonName VAR_038001
VAR_038001 disease not phenotype-associated
VAR_038002 commonName VAR_038002
VAR_038002 disease not phenotype-associated
VAR_038003 commonName VAR_038003
VAR_038003 disease not phenotype-associated
VAR_038005 commonName VAR_038005
VAR_038006 commonName VAR_038006
VAR_038006 disease not phenotype-associated
VAR_038007 commonName VAR_038007
VAR_038007 disease not phenotype-associated
VAR_038008 commonName VAR_038008
VAR_038008 disease not phenotype-associated
VAR_038009 commonName VAR_038009
VAR_038010 commonName VAR_038010
VAR_038010 disease not phenotype-associated
VAR_038011 commonName VAR_038011
VAR_038011 disease not phenotype-associated
VAR_038012 commonName VAR_038012
VAR_038012 disease phenotype-associated
VAR_038012 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038013 commonName VAR_038013
VAR_038013 disease phenotype-associated
VAR_038013 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038014 commonName VAR_038014
VAR_038014 disease not phenotype-associated
VAR_038015 commonName VAR_038015
VAR_038015 disease phenotype-associated
VAR_038015 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038016 commonName VAR_038016
VAR_038016 disease phenotype-associated
VAR_038016 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038017 commonName VAR_038017
VAR_038017 disease not phenotype-associated
VAR_038018 commonName VAR_038018
VAR_038018 disease not phenotype-associated
VAR_038019 commonName VAR_038019
VAR_038019 disease phenotype-associated
VAR_038019 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038020 commonName VAR_038020
VAR_038021 commonName VAR_038021
VAR_038021 disease phenotype-associated
VAR_038021 phenoCommon Fanconi anemia (FA) [MIM:227650]
VAR_038022 commonName VAR_038022
VAR_038023 commonName VAR_038023
VAR_038023 disease not phenotype-associated
VAR_038024 commonName VAR_038024
VAR_038025 commonName VAR_038025
VAR_038025 disease not phenotype-associated
VAR_038026 commonName VAR_038026
VAR_038026 disease not phenotype-associated
VAR_038027 commonName VAR_038027
VAR_038027 disease not phenotype-associated
VAR_038032 commonName VAR_038032
VAR_038032 disease not phenotype-associated
VAR_038033 commonName VAR_038033
VAR_038033 disease not phenotype-associated
VAR_038034 commonName VAR_038034
VAR_038034 disease not phenotype-associated
VAR_038035 commonName VAR_038035
VAR_038035 disease not phenotype-associated
VAR_038036 commonName VAR_038036
VAR_038037 commonName VAR_038037
VAR_038037 disease not phenotype-associated
VAR_038038 commonName VAR_038038
VAR_038038 disease not phenotype-associated
VAR_038042 comment A colorectal cancer sample
VAR_038042 commonName VAR_038042
VAR_038043 comment A colorectal cancer sample
VAR_038043 commonName VAR_038043
VAR_038044 comment A colorectal cancer sample
VAR_038044 commonName VAR_038044
VAR_038045 commonName VAR_038045
VAR_038045 disease not phenotype-associated
VAR_038046 commonName VAR_038046
VAR_038046 disease not phenotype-associated
VAR_038047 commonName VAR_038047
VAR_038047 disease not phenotype-associated
VAR_038055 commonName VAR_038055
VAR_038055 disease not phenotype-associated
VAR_038056 commonName VAR_038056
VAR_038056 disease not phenotype-associated
VAR_038057 commonName VAR_038057
VAR_038057 disease not phenotype-associated
VAR_038058 commonName VAR_038058
VAR_038058 disease not phenotype-associated
VAR_038059 commonName VAR_038059
VAR_038059 disease not phenotype-associated
VAR_038060 commonName VAR_038060
VAR_038060 disease not phenotype-associated
VAR_038061 commonName VAR_038061
VAR_038061 disease not phenotype-associated
VAR_038062 commonName VAR_038062
VAR_038062 disease not phenotype-associated
VAR_038063 commonName VAR_038063
VAR_038063 disease not phenotype-associated
VAR_038064 commonName VAR_038064
VAR_038064 disease not phenotype-associated
VAR_038065 commonName VAR_038065
VAR_038065 disease not phenotype-associated
VAR_038066 commonName VAR_038066
VAR_038066 disease not phenotype-associated
VAR_038067 commonName VAR_038067
VAR_038067 disease not phenotype-associated
VAR_038068 commonName VAR_038068
VAR_038068 disease not phenotype-associated
VAR_038069 commonName VAR_038069
VAR_038069 disease not phenotype-associated
VAR_038070 commonName VAR_038070
VAR_038070 disease not phenotype-associated
VAR_038071 commonName VAR_038071
VAR_038071 disease not phenotype-associated
VAR_038072 commonName VAR_038072
VAR_038072 disease not phenotype-associated
VAR_038073 commonName VAR_038073
VAR_038073 disease not phenotype-associated
VAR_038074 commonName VAR_038074
VAR_038074 disease not phenotype-associated
VAR_038075 commonName VAR_038075
VAR_038075 disease not phenotype-associated
VAR_038076 commonName VAR_038076
VAR_038076 disease not phenotype-associated
VAR_038077 commonName VAR_038077
VAR_038077 disease not phenotype-associated
VAR_038078 commonName VAR_038078
VAR_038078 disease not phenotype-associated
VAR_038079 commonName VAR_038079
VAR_038079 disease not phenotype-associated
VAR_038080 commonName VAR_038080
VAR_038080 disease not phenotype-associated
VAR_038081 commonName VAR_038081
VAR_038081 disease not phenotype-associated
VAR_038082 commonName VAR_038082
VAR_038082 disease not phenotype-associated
VAR_038083 commonName VAR_038083
VAR_038083 disease not phenotype-associated
VAR_038084 commonName VAR_038084
VAR_038084 disease not phenotype-associated
VAR_038085 commonName VAR_038085
VAR_038085 disease not phenotype-associated
VAR_038086 commonName VAR_038086
VAR_038086 disease not phenotype-associated
VAR_038087 commonName VAR_038087
VAR_038087 disease not phenotype-associated
VAR_038088 commonName VAR_038088
VAR_038088 disease not phenotype-associated
VAR_038091 commonName VAR_038091
VAR_038091 disease not phenotype-associated
VAR_038092 commonName VAR_038092
VAR_038092 disease not phenotype-associated
VAR_038093 comment A colorectal cancer sample
VAR_038093 commonName VAR_038093
VAR_038094 comment A colorectal cancer sample
VAR_038094 commonName VAR_038094
VAR_038095 commonName VAR_038095
VAR_038095 disease not phenotype-associated
VAR_038096 commonName VAR_038096
VAR_038096 disease not phenotype-associated
VAR_038097 commonName VAR_038097
VAR_038097 disease not phenotype-associated
VAR_038098 commonName VAR_038098
VAR_038098 disease not phenotype-associated
VAR_038099 commonName VAR_038099
VAR_038099 disease not phenotype-associated
VAR_038100 commonName VAR_038100
VAR_038100 disease not phenotype-associated
VAR_038101 commonName VAR_038101
VAR_038101 disease not phenotype-associated
VAR_038102 commonName VAR_038102
VAR_038102 disease not phenotype-associated
VAR_038103 commonName VAR_038103
VAR_038103 disease not phenotype-associated
VAR_038104 commonName VAR_038104
VAR_038104 disease phenotype-associated
VAR_038104 phenoCommon Loose anagen hair syndrome (LAHS) [MIM:600628]
VAR_038105 commonName VAR_038105
VAR_038105 disease not phenotype-associated
VAR_038106 commonName VAR_038106
VAR_038106 disease not phenotype-associated
VAR_038107 commonName VAR_038107
VAR_038107 disease not phenotype-associated
VAR_038108 commonName VAR_038108
VAR_038108 disease not phenotype-associated
VAR_038109 commonName VAR_038109
VAR_038109 disease not phenotype-associated
VAR_038110 commonName VAR_038110
VAR_038110 disease not phenotype-associated
VAR_038111 commonName VAR_038111
VAR_038111 disease not phenotype-associated
VAR_038112 commonName VAR_038112
VAR_038112 disease not phenotype-associated
VAR_038113 commonName VAR_038113
VAR_038113 disease not phenotype-associated
VAR_038114 commonName VAR_038114
VAR_038114 disease not phenotype-associated
VAR_038115 commonName VAR_038115
VAR_038115 disease not phenotype-associated
VAR_038117 commonName VAR_038117
VAR_038117 disease not phenotype-associated
VAR_038118 commonName VAR_038118
VAR_038118 disease not phenotype-associated
VAR_038119 commonName VAR_038119
VAR_038119 disease not phenotype-associated
VAR_038120 commonName VAR_038120
VAR_038120 disease not phenotype-associated
VAR_038121 commonName VAR_038121
VAR_038121 disease not phenotype-associated
VAR_038123 commonName VAR_038123
VAR_038123 disease not phenotype-associated
VAR_038124 commonName VAR_038124
VAR_038124 disease not phenotype-associated
VAR_038125 commonName VAR_038125
VAR_038125 disease not phenotype-associated
VAR_038126 commonName VAR_038126
VAR_038126 disease not phenotype-associated
VAR_038127 commonName VAR_038127
VAR_038127 disease not phenotype-associated
VAR_038128 commonName VAR_038128
VAR_038128 disease not phenotype-associated
VAR_038129 commonName VAR_038129
VAR_038129 disease not phenotype-associated
VAR_038130 commonName VAR_038130
VAR_038130 disease not phenotype-associated
VAR_038131 commonName VAR_038131
VAR_038131 disease not phenotype-associated
VAR_038132 commonName VAR_038132
VAR_038132 disease not phenotype-associated
VAR_038133 commonName VAR_038133
VAR_038133 disease not phenotype-associated
VAR_038134 commonName VAR_038134
VAR_038134 disease not phenotype-associated
VAR_038135 commonName VAR_038135
VAR_038135 disease not phenotype-associated
VAR_038136 comment A breast cancer sample
VAR_038136 commonName VAR_038136
VAR_038137 commonName VAR_038137
VAR_038137 disease not phenotype-associated
VAR_038138 commonName VAR_038138
VAR_038138 disease not phenotype-associated
VAR_038139 commonName VAR_038139
VAR_038139 disease not phenotype-associated
VAR_038140 commonName VAR_038140
VAR_038140 disease not phenotype-associated
VAR_038141 commonName VAR_038141
VAR_038141 disease not phenotype-associated
VAR_038142 commonName VAR_038142
VAR_038142 disease not phenotype-associated
VAR_038143 commonName VAR_038143
VAR_038143 disease not phenotype-associated
VAR_038144 commonName VAR_038144
VAR_038144 disease not phenotype-associated
VAR_038145 commonName VAR_038145
VAR_038145 disease not phenotype-associated
VAR_038146 commonName VAR_038146
VAR_038146 disease not phenotype-associated
VAR_038147 commonName VAR_038147
VAR_038147 disease not phenotype-associated
VAR_038148 commonName VAR_038148
VAR_038148 disease not phenotype-associated
VAR_038149 commonName VAR_038149
VAR_038150 commonName VAR_038150
VAR_038150 disease not phenotype-associated
VAR_038151 commonName VAR_038151
VAR_038151 disease not phenotype-associated
VAR_038152 commonName VAR_038152
VAR_038152 disease not phenotype-associated
VAR_038153 commonName VAR_038153
VAR_038153 disease not phenotype-associated
VAR_038158 commonName VAR_038158
VAR_038158 disease not phenotype-associated
VAR_038159 commonName VAR_038159
VAR_038159 disease not phenotype-associated
VAR_038160 commonName VAR_038160
VAR_038160 disease not phenotype-associated
VAR_038161 commonName VAR_038161
VAR_038161 disease not phenotype-associated
VAR_038166 commonName VAR_038166
VAR_038166 disease phenotype-associated
VAR_038166 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_038167 commonName VAR_038167
VAR_038167 disease phenotype-associated
VAR_038167 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_038168 commonName VAR_038168
VAR_038168 disease not phenotype-associated
VAR_038169 commonName VAR_038169
VAR_038169 disease phenotype-associated
VAR_038169 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000]
VAR_038170 commonName VAR_038170
VAR_038170 disease not phenotype-associated
VAR_038171 commonName VAR_038171
VAR_038171 disease not phenotype-associated
VAR_038172 commonName VAR_038172
VAR_038172 disease not phenotype-associated
VAR_038173 commonName VAR_038173
VAR_038173 disease not phenotype-associated
VAR_038174 commonName VAR_038174
VAR_038174 disease not phenotype-associated
VAR_038175 commonName VAR_038175
VAR_038175 disease not phenotype-associated
VAR_038176 commonName VAR_038176
VAR_038176 disease not phenotype-associated
VAR_038177 commonName VAR_038177
VAR_038177 disease not phenotype-associated
VAR_038178 commonName VAR_038178
VAR_038178 disease not phenotype-associated
VAR_038179 commonName VAR_038179
VAR_038179 disease not phenotype-associated
VAR_038180 commonName VAR_038180
VAR_038180 disease not phenotype-associated
VAR_038181 commonName VAR_038181
VAR_038181 disease not phenotype-associated
VAR_038182 commonName VAR_038182
VAR_038182 disease not phenotype-associated
VAR_038183 commonName VAR_038183
VAR_038183 disease not phenotype-associated
VAR_038184 commonName VAR_038184
VAR_038184 disease not phenotype-associated
VAR_038185 commonName VAR_038185
VAR_038185 disease not phenotype-associated
VAR_038186 commonName VAR_038186
VAR_038186 disease not phenotype-associated
VAR_038187 commonName VAR_038187
VAR_038187 disease not phenotype-associated
VAR_038188 commonName VAR_038188
VAR_038188 disease not phenotype-associated
VAR_038190 commonName VAR_038190
VAR_038190 disease not phenotype-associated
VAR_038193 commonName VAR_038193
VAR_038193 disease not phenotype-associated
VAR_038194 commonName VAR_038194
VAR_038194 disease phenotype-associated
VAR_038194 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]
VAR_038195 commonName VAR_038195
VAR_038195 disease phenotype-associated
VAR_038195 phenoCommon Atrial septal defect type 2 (ASD2) [MIM:607941]
VAR_038197 commonName VAR_038197
VAR_038197 disease not phenotype-associated
VAR_038198 commonName VAR_038198
VAR_038198 disease phenotype-associated
VAR_038198 phenoCommon Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]
VAR_038199 commonName VAR_038199
VAR_038199 disease phenotype-associated
VAR_038199 phenoCommon Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]
VAR_038200 commonName VAR_038200
VAR_038200 disease phenotype-associated
VAR_038200 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_038201 commonName VAR_038201
VAR_038201 disease phenotype-associated
VAR_038201 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_038202 commonName VAR_038202
VAR_038202 disease phenotype-associated
VAR_038202 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_038203 commonName VAR_038203
VAR_038203 disease phenotype-associated
VAR_038203 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_038210 commonName VAR_038210
VAR_038210 disease not phenotype-associated
VAR_038211 commonName VAR_038211
VAR_038211 disease not phenotype-associated
VAR_038212 commonName VAR_038212
VAR_038212 disease phenotype-associated
VAR_038212 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038213 commonName VAR_038213
VAR_038213 disease phenotype-associated
VAR_038213 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038214 commonName VAR_038214
VAR_038214 disease phenotype-associated
VAR_038214 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038215 commonName VAR_038215
VAR_038215 disease phenotype-associated
VAR_038215 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038215 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_038216 commonName VAR_038216
VAR_038216 disease phenotype-associated
VAR_038216 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038216 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_038217 commonName VAR_038217
VAR_038217 disease phenotype-associated
VAR_038217 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038218 commonName VAR_038218
VAR_038218 disease phenotype-associated
VAR_038218 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038219 commonName VAR_038219
VAR_038219 disease phenotype-associated
VAR_038219 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038220 commonName VAR_038220
VAR_038220 disease phenotype-associated
VAR_038220 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038221 commonName VAR_038221
VAR_038221 disease phenotype-associated
VAR_038221 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038222 commonName VAR_038222
VAR_038222 disease phenotype-associated
VAR_038222 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038223 commonName VAR_038223
VAR_038223 disease phenotype-associated
VAR_038223 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038224 commonName VAR_038224
VAR_038224 disease phenotype-associated
VAR_038224 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038225 commonName VAR_038225
VAR_038225 disease phenotype-associated
VAR_038225 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038226 commonName VAR_038226
VAR_038226 disease phenotype-associated
VAR_038226 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038227 commonName VAR_038227
VAR_038227 disease phenotype-associated
VAR_038227 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038228 commonName VAR_038228
VAR_038228 disease phenotype-associated
VAR_038228 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038229 commonName VAR_038229
VAR_038229 disease phenotype-associated
VAR_038229 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038230 commonName VAR_038230
VAR_038230 disease phenotype-associated
VAR_038230 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038231 commonName VAR_038231
VAR_038231 disease phenotype-associated
VAR_038231 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038232 commonName VAR_038232
VAR_038232 disease phenotype-associated
VAR_038232 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038233 commonName VAR_038233
VAR_038233 disease phenotype-associated
VAR_038233 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038234 commonName VAR_038234
VAR_038234 disease phenotype-associated
VAR_038234 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038235 commonName VAR_038235
VAR_038235 disease phenotype-associated
VAR_038235 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038236 commonName VAR_038236
VAR_038236 disease phenotype-associated
VAR_038236 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038237 commonName VAR_038237
VAR_038237 disease phenotype-associated
VAR_038237 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038238 commonName VAR_038238
VAR_038238 disease phenotype-associated
VAR_038238 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038239 commonName VAR_038239
VAR_038239 disease phenotype-associated
VAR_038239 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038239 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_038240 commonName VAR_038240
VAR_038240 disease phenotype-associated
VAR_038240 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038240 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_038241 commonName VAR_038241
VAR_038241 disease phenotype-associated
VAR_038241 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038242 commonName VAR_038242
VAR_038242 disease phenotype-associated
VAR_038242 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038243 commonName VAR_038243
VAR_038243 disease phenotype-associated
VAR_038243 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038244 commonName VAR_038244
VAR_038244 disease phenotype-associated
VAR_038244 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038245 commonName VAR_038245
VAR_038245 disease phenotype-associated
VAR_038245 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038246 commonName VAR_038246
VAR_038246 disease phenotype-associated
VAR_038246 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038247 commonName VAR_038247
VAR_038247 disease phenotype-associated
VAR_038247 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038248 commonName VAR_038248
VAR_038248 disease phenotype-associated
VAR_038248 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038249 commonName VAR_038249
VAR_038249 disease phenotype-associated
VAR_038249 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038250 commonName VAR_038250
VAR_038250 disease phenotype-associated
VAR_038250 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038251 commonName VAR_038251
VAR_038251 disease phenotype-associated
VAR_038251 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038252 commonName VAR_038252
VAR_038252 disease phenotype-associated
VAR_038252 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038253 commonName VAR_038253
VAR_038253 disease phenotype-associated
VAR_038253 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900]
VAR_038253 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_038254 commonName VAR_038254
VAR_038254 disease not phenotype-associated
VAR_038255 commonName VAR_038255
VAR_038255 disease not phenotype-associated
VAR_038257 commonName VAR_038257
VAR_038257 disease not phenotype-associated
VAR_038258 commonName VAR_038258
VAR_038258 disease not phenotype-associated
VAR_038259 commonName VAR_038259
VAR_038259 disease not phenotype-associated
VAR_038260 commonName VAR_038260
VAR_038260 disease not phenotype-associated
VAR_038261 commonName VAR_038261
VAR_038261 disease not phenotype-associated
VAR_038262 commonName VAR_038262
VAR_038262 disease not phenotype-associated
VAR_038263 commonName VAR_038263
VAR_038263 disease not phenotype-associated
VAR_038264 commonName VAR_038264
VAR_038264 disease not phenotype-associated
VAR_038265 commonName VAR_038265
VAR_038265 disease not phenotype-associated
VAR_038268 commonName VAR_038268
VAR_038268 disease not phenotype-associated
VAR_038269 commonName VAR_038269
VAR_038269 disease not phenotype-associated
VAR_038270 commonName VAR_038270
VAR_038270 disease not phenotype-associated
VAR_038271 commonName VAR_038271
VAR_038271 disease not phenotype-associated
VAR_038272 commonName VAR_038272
VAR_038272 disease not phenotype-associated
VAR_038273 commonName VAR_038273
VAR_038273 disease not phenotype-associated
VAR_038274 commonName VAR_038274
VAR_038274 disease not phenotype-associated
VAR_038275 commonName VAR_038275
VAR_038275 disease not phenotype-associated
VAR_038276 commonName VAR_038276
VAR_038276 disease not phenotype-associated
VAR_038277 commonName VAR_038277
VAR_038277 disease not phenotype-associated
VAR_038278 commonName VAR_038278
VAR_038278 disease not phenotype-associated
VAR_038279 commonName VAR_038279
VAR_038279 disease not phenotype-associated
VAR_038280 commonName VAR_038280
VAR_038280 disease not phenotype-associated
VAR_038281 commonName VAR_038281
VAR_038281 disease not phenotype-associated
VAR_038282 commonName VAR_038282
VAR_038282 disease not phenotype-associated
VAR_038283 commonName VAR_038283
VAR_038283 disease not phenotype-associated
VAR_038284 commonName VAR_038284
VAR_038284 disease not phenotype-associated
VAR_038285 commonName VAR_038285
VAR_038285 disease not phenotype-associated
VAR_038286 commonName VAR_038286
VAR_038286 disease not phenotype-associated
VAR_038287 commonName VAR_038287
VAR_038287 disease not phenotype-associated
VAR_038288 commonName VAR_038288
VAR_038288 disease not phenotype-associated
VAR_038289 commonName VAR_038289
VAR_038289 disease not phenotype-associated
VAR_038290 commonName VAR_038290
VAR_038290 disease not phenotype-associated
VAR_038291 commonName VAR_038291
VAR_038291 disease not phenotype-associated
VAR_038294 commonName VAR_038294
VAR_038294 disease not phenotype-associated
VAR_038295 commonName VAR_038295
VAR_038295 disease not phenotype-associated
VAR_038296 commonName VAR_038296
VAR_038296 disease not phenotype-associated
VAR_038297 commonName VAR_038297
VAR_038297 disease not phenotype-associated
VAR_038298 commonName VAR_038298
VAR_038298 disease not phenotype-associated
VAR_038299 commonName VAR_038299
VAR_038299 disease not phenotype-associated
VAR_038300 commonName VAR_038300
VAR_038300 disease not phenotype-associated
VAR_038301 comment A colorectal cancer sample
VAR_038301 commonName VAR_038301
VAR_038303 commonName VAR_038303
VAR_038303 disease not phenotype-associated
VAR_038304 commonName VAR_038304
VAR_038304 disease not phenotype-associated
VAR_038305 commonName VAR_038305
VAR_038305 disease not phenotype-associated
VAR_038306 commonName VAR_038306
VAR_038306 disease not phenotype-associated
VAR_038307 commonName VAR_038307
VAR_038307 disease not phenotype-associated
VAR_038309 commonName VAR_038309
VAR_038309 disease not phenotype-associated
VAR_038314 commonName VAR_038314
VAR_038314 disease not phenotype-associated
VAR_038317 commonName VAR_038317
VAR_038317 disease not phenotype-associated
VAR_038318 commonName VAR_038318
VAR_038318 disease not phenotype-associated
VAR_038325 commonName VAR_038325
VAR_038325 disease not phenotype-associated
VAR_038326 commonName VAR_038326
VAR_038326 disease not phenotype-associated
VAR_038327 commonName VAR_038327
VAR_038327 disease not phenotype-associated
VAR_038328 commonName VAR_038328
VAR_038328 disease not phenotype-associated
VAR_038329 commonName VAR_038329
VAR_038329 disease not phenotype-associated
VAR_038330 commonName VAR_038330
VAR_038330 disease not phenotype-associated
VAR_038331 commonName VAR_038331
VAR_038331 disease not phenotype-associated
VAR_038332 commonName VAR_038332
VAR_038332 disease not phenotype-associated
VAR_038333 commonName VAR_038333
VAR_038333 disease not phenotype-associated
VAR_038334 commonName VAR_038334
VAR_038334 disease phenotype-associated
VAR_038334 phenoCommon Spermatogenic failure type 6 (SPGF6) [MIM:102530]
VAR_038335 commonName VAR_038335
VAR_038335 disease not phenotype-associated
VAR_038336 commonName VAR_038336
VAR_038336 disease not phenotype-associated
VAR_038337 commonName VAR_038337
VAR_038337 disease not phenotype-associated
VAR_038338 commonName VAR_038338
VAR_038338 disease not phenotype-associated
VAR_038339 commonName VAR_038339
VAR_038339 disease not phenotype-associated
VAR_038340 commonName VAR_038340
VAR_038340 disease not phenotype-associated
VAR_038341 commonName VAR_038341
VAR_038341 disease not phenotype-associated
VAR_038342 commonName VAR_038342
VAR_038342 disease not phenotype-associated
VAR_038343 commonName VAR_038343
VAR_038343 disease not phenotype-associated
VAR_038344 commonName VAR_038344
VAR_038344 disease not phenotype-associated
VAR_038345 commonName VAR_038345
VAR_038345 disease not phenotype-associated
VAR_038346 commonName VAR_038346
VAR_038346 disease phenotype-associated
VAR_038346 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_038347 commonName VAR_038347
VAR_038347 disease not phenotype-associated
VAR_038348 commonName VAR_038348
VAR_038348 disease not phenotype-associated
VAR_038349 commonName VAR_038349
VAR_038349 disease not phenotype-associated
VAR_038350 commonName VAR_038350
VAR_038350 disease not phenotype-associated
VAR_038351 commonName VAR_038351
VAR_038351 disease not phenotype-associated
VAR_038354 commonName VAR_038354
VAR_038354 disease not phenotype-associated
VAR_038355 commonName VAR_038355
VAR_038355 disease not phenotype-associated
VAR_038356 commonName VAR_038356
VAR_038356 disease phenotype-associated
VAR_038356 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_038357 commonName VAR_038357
VAR_038357 disease phenotype-associated
VAR_038357 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_038358 commonName VAR_038358
VAR_038358 disease phenotype-associated
VAR_038358 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_038359 commonName VAR_038359
VAR_038359 disease phenotype-associated
VAR_038359 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_038360 commonName VAR_038360
VAR_038360 disease phenotype-associated
VAR_038360 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_038361 commonName VAR_038361
VAR_038361 disease phenotype-associated
VAR_038361 phenoCommon Syndactyly type 3 (SDTY3) [MIM:186100]
VAR_038362 commonName VAR_038362
VAR_038362 disease not phenotype-associated
VAR_038363 commonName VAR_038363
VAR_038363 disease not phenotype-associated
VAR_038364 commonName VAR_038364
VAR_038364 disease not phenotype-associated
VAR_038365 commonName VAR_038365
VAR_038365 disease not phenotype-associated
VAR_038366 commonName VAR_038366
VAR_038366 disease not phenotype-associated
VAR_038367 commonName VAR_038367
VAR_038367 disease not phenotype-associated
VAR_038368 commonName VAR_038368
VAR_038368 disease not phenotype-associated
VAR_038369 commonName VAR_038369
VAR_038369 disease phenotype-associated
VAR_038369 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_038370 commonName VAR_038370
VAR_038370 disease not phenotype-associated
VAR_038371 commonName VAR_038371
VAR_038371 disease not phenotype-associated
VAR_038372 commonName VAR_038372
VAR_038372 disease not phenotype-associated
VAR_038373 commonName VAR_038373
VAR_038373 disease not phenotype-associated
VAR_038374 commonName VAR_038374
VAR_038375 commonName VAR_038375
VAR_038375 disease phenotype-associated
VAR_038375 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_038376 commonName VAR_038376
VAR_038376 disease not phenotype-associated
VAR_038377 commonName VAR_038377
VAR_038377 disease not phenotype-associated
VAR_038378 commonName VAR_038378
VAR_038378 disease not phenotype-associated
VAR_038379 commonName VAR_038379
VAR_038379 disease not phenotype-associated
VAR_038380 commonName VAR_038380
VAR_038380 disease phenotype-associated
VAR_038380 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650]
VAR_038381 commonName VAR_038381
VAR_038381 disease not phenotype-associated
VAR_038382 commonName VAR_038382
VAR_038382 disease not phenotype-associated
VAR_038383 commonName VAR_038383
VAR_038383 disease not phenotype-associated
VAR_038384 commonName VAR_038384
VAR_038384 disease not phenotype-associated
VAR_038385 commonName VAR_038385
VAR_038385 disease not phenotype-associated
VAR_038389 commonName VAR_038389
VAR_038389 disease not phenotype-associated
VAR_038390 commonName VAR_038390
VAR_038390 disease not phenotype-associated
VAR_038391 commonName VAR_038391
VAR_038391 disease not phenotype-associated
VAR_038392 commonName VAR_038392
VAR_038392 disease not phenotype-associated
VAR_038393 commonName VAR_038393
VAR_038393 disease not phenotype-associated
VAR_038394 commonName VAR_038394
VAR_038394 disease not phenotype-associated
VAR_038395 commonName VAR_038395
VAR_038395 disease not phenotype-associated
VAR_038396 commonName VAR_038396
VAR_038396 disease not phenotype-associated
VAR_038397 commonName VAR_038397
VAR_038397 disease not phenotype-associated
VAR_038398 commonName VAR_038398
VAR_038398 disease not phenotype-associated
VAR_038399 comment A colorectal cancer sample
VAR_038399 commonName VAR_038399
VAR_038400 commonName VAR_038400
VAR_038400 disease not phenotype-associated
VAR_038401 commonName VAR_038401
VAR_038401 disease not phenotype-associated
VAR_038402 commonName VAR_038402
VAR_038402 disease not phenotype-associated
VAR_038403 commonName VAR_038403
VAR_038403 disease not phenotype-associated
VAR_038404 commonName VAR_038404
VAR_038404 disease not phenotype-associated
VAR_038405 commonName VAR_038405
VAR_038405 disease not phenotype-associated
VAR_038406 commonName VAR_038406
VAR_038406 disease not phenotype-associated
VAR_038407 commonName VAR_038407
VAR_038407 disease not phenotype-associated
VAR_038408 commonName VAR_038408
VAR_038408 disease not phenotype-associated
VAR_038409 commonName VAR_038409
VAR_038409 disease not phenotype-associated
VAR_038410 commonName VAR_038410
VAR_038410 disease not phenotype-associated
VAR_038411 commonName VAR_038411
VAR_038411 disease not phenotype-associated
VAR_038412 commonName VAR_038412
VAR_038412 disease not phenotype-associated
VAR_038414 commonName VAR_038414
VAR_038414 disease not phenotype-associated
VAR_038415 commonName VAR_038415
VAR_038415 disease not phenotype-associated
VAR_038416 commonName VAR_038416
VAR_038416 disease not phenotype-associated
VAR_038417 commonName VAR_038417
VAR_038417 disease not phenotype-associated
VAR_038418 commonName VAR_038418
VAR_038418 disease phenotype-associated
VAR_038418 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170]
VAR_038419 commonName VAR_038419
VAR_038419 disease not phenotype-associated
VAR_038420 commonName VAR_038420
VAR_038420 disease phenotype-associated
VAR_038420 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150]
VAR_038421 commonName VAR_038421
VAR_038421 disease phenotype-associated
VAR_038421 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150]
VAR_038422 commonName VAR_038422
VAR_038422 disease phenotype-associated
VAR_038422 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_038423 commonName VAR_038423
VAR_038423 disease phenotype-associated
VAR_038423 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_038424 commonName VAR_038424
VAR_038424 disease phenotype-associated
VAR_038424 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_038425 commonName VAR_038425
VAR_038425 disease not phenotype-associated
VAR_038426 commonName VAR_038426
VAR_038426 disease not phenotype-associated
VAR_038428 commonName VAR_038428
VAR_038428 disease phenotype-associated
VAR_038428 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
VAR_038429 commonName VAR_038429
VAR_038429 disease not phenotype-associated
VAR_038430 commonName VAR_038430
VAR_038430 disease not phenotype-associated
VAR_038431 commonName VAR_038431
VAR_038431 disease not phenotype-associated
VAR_038432 commonName VAR_038432
VAR_038432 disease not phenotype-associated
VAR_038433 commonName VAR_038433
VAR_038433 disease not phenotype-associated
VAR_038434 commonName VAR_038434
VAR_038434 disease not phenotype-associated
VAR_038435 commonName VAR_038435
VAR_038435 disease not phenotype-associated
VAR_038438 commonName VAR_038438
VAR_038438 disease not phenotype-associated
VAR_038439 commonName VAR_038439
VAR_038439 disease not phenotype-associated
VAR_038440 commonName VAR_038440
VAR_038440 disease not phenotype-associated
VAR_038441 commonName VAR_038441
VAR_038441 disease not phenotype-associated
VAR_038442 comment A breast cancer sample
VAR_038442 commonName VAR_038442
VAR_038443 commonName VAR_038443
VAR_038443 disease not phenotype-associated
VAR_038444 commonName VAR_038444
VAR_038444 disease not phenotype-associated
VAR_038445 commonName VAR_038445
VAR_038445 disease not phenotype-associated
VAR_038446 commonName VAR_038446
VAR_038446 disease not phenotype-associated
VAR_038447 comment A breast cancer sample
VAR_038447 commonName VAR_038447
VAR_038448 commonName VAR_038448
VAR_038448 disease not phenotype-associated
VAR_038449 commonName VAR_038449
VAR_038449 disease not phenotype-associated
VAR_038450 commonName VAR_038450
VAR_038450 disease not phenotype-associated
VAR_038451 commonName VAR_038451
VAR_038451 disease not phenotype-associated
VAR_038452 commonName VAR_038452
VAR_038452 disease not phenotype-associated
VAR_038453 commonName VAR_038453
VAR_038453 disease not phenotype-associated
VAR_038454 commonName VAR_038454
VAR_038454 disease not phenotype-associated
VAR_038455 commonName VAR_038455
VAR_038455 disease not phenotype-associated
VAR_038456 commonName VAR_038456
VAR_038456 disease not phenotype-associated
VAR_038457 commonName VAR_038457
VAR_038457 disease not phenotype-associated
VAR_038458 commonName VAR_038458
VAR_038458 disease not phenotype-associated
VAR_038459 commonName VAR_038459
VAR_038459 disease not phenotype-associated
VAR_038460 commonName VAR_038460
VAR_038460 disease not phenotype-associated
VAR_038461 commonName VAR_038461
VAR_038461 disease not phenotype-associated
VAR_038462 commonName VAR_038462
VAR_038462 disease not phenotype-associated
VAR_038463 commonName VAR_038463
VAR_038463 disease not phenotype-associated
VAR_038464 commonName VAR_038464
VAR_038464 disease not phenotype-associated
VAR_038465 commonName VAR_038465
VAR_038465 disease not phenotype-associated
VAR_038466 commonName VAR_038466
VAR_038466 disease not phenotype-associated
VAR_038467 commonName VAR_038467
VAR_038467 disease not phenotype-associated
VAR_038468 commonName VAR_038468
VAR_038468 disease not phenotype-associated
VAR_038469 commonName VAR_038469
VAR_038469 disease not phenotype-associated
VAR_038470 commonName VAR_038470
VAR_038470 disease not phenotype-associated
VAR_038471 commonName VAR_038471
VAR_038471 disease not phenotype-associated
VAR_038472 commonName VAR_038472
VAR_038472 disease not phenotype-associated
VAR_038473 commonName VAR_038473
VAR_038473 disease not phenotype-associated
VAR_038476 commonName VAR_038476
VAR_038476 disease not phenotype-associated
VAR_038477 commonName VAR_038477
VAR_038477 disease not phenotype-associated
VAR_038480 commonName VAR_038480
VAR_038480 disease not phenotype-associated
VAR_038482 commonName VAR_038482
VAR_038482 disease phenotype-associated
VAR_038482 phenoCommon Cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:219150]
VAR_038483 commonName VAR_038483
VAR_038483 disease not phenotype-associated
VAR_038484 commonName VAR_038484
VAR_038484 disease not phenotype-associated
VAR_038485 commonName VAR_038485
VAR_038485 disease not phenotype-associated
VAR_038486 commonName VAR_038486
VAR_038486 disease not phenotype-associated
VAR_038487 commonName VAR_038487
VAR_038487 disease not phenotype-associated
VAR_038489 commonName VAR_038489
VAR_038489 disease not phenotype-associated
VAR_038490 commonName VAR_038490
VAR_038490 disease not phenotype-associated
VAR_038491 commonName VAR_038491
VAR_038491 disease not phenotype-associated
VAR_038492 commonName VAR_038492
VAR_038492 disease not phenotype-associated
VAR_038493 commonName VAR_038493
VAR_038493 disease not phenotype-associated
VAR_038494 commonName VAR_038494
VAR_038494 disease not phenotype-associated
VAR_038495 commonName VAR_038495
VAR_038495 disease not phenotype-associated
VAR_038496 commonName VAR_038496
VAR_038496 disease not phenotype-associated
VAR_038497 commonName VAR_038497
VAR_038497 disease not phenotype-associated
VAR_038498 commonName VAR_038498
VAR_038498 disease not phenotype-associated
VAR_038499 commonName VAR_038499
VAR_038499 disease not phenotype-associated
VAR_038500 commonName VAR_038500
VAR_038500 disease not phenotype-associated
VAR_038501 commonName VAR_038501
VAR_038501 disease not phenotype-associated
VAR_038502 commonName VAR_038502
VAR_038502 disease not phenotype-associated
VAR_038503 commonName VAR_038503
VAR_038503 disease not phenotype-associated
VAR_038506 commonName VAR_038506
VAR_038506 disease not phenotype-associated
VAR_038507 commonName VAR_038507
VAR_038507 disease not phenotype-associated
VAR_038508 commonName VAR_038508
VAR_038508 disease not phenotype-associated
VAR_038509 commonName VAR_038509
VAR_038509 disease not phenotype-associated
VAR_038510 commonName VAR_038510
VAR_038510 disease not phenotype-associated
VAR_038511 commonName VAR_038511
VAR_038511 disease not phenotype-associated
VAR_038512 commonName VAR_038512
VAR_038512 disease not phenotype-associated
VAR_038513 commonName VAR_038513
VAR_038513 disease not phenotype-associated
VAR_038514 commonName VAR_038514
VAR_038514 disease not phenotype-associated
VAR_038515 commonName VAR_038515
VAR_038515 disease not phenotype-associated
VAR_038516 commonName VAR_038516
VAR_038516 disease not phenotype-associated
VAR_038517 commonName VAR_038517
VAR_038517 disease not phenotype-associated
VAR_038518 commonName VAR_038518
VAR_038518 disease not phenotype-associated
VAR_038519 commonName VAR_038519
VAR_038519 disease not phenotype-associated
VAR_038520 commonName VAR_038520
VAR_038520 disease not phenotype-associated
VAR_038521 commonName VAR_038521
VAR_038521 disease not phenotype-associated
VAR_038522 commonName VAR_038522
VAR_038522 disease not phenotype-associated
VAR_038523 commonName VAR_038523
VAR_038523 disease not phenotype-associated
VAR_038524 commonName VAR_038524
VAR_038524 disease not phenotype-associated
VAR_038525 commonName VAR_038525
VAR_038525 disease not phenotype-associated
VAR_038526 commonName VAR_038526
VAR_038526 disease not phenotype-associated
VAR_038527 commonName VAR_038527
VAR_038527 disease not phenotype-associated
VAR_038529 commonName VAR_038529
VAR_038529 disease not phenotype-associated
VAR_038530 commonName VAR_038530
VAR_038530 disease not phenotype-associated
VAR_038531 commonName VAR_038531
VAR_038531 disease not phenotype-associated
VAR_038532 commonName VAR_038532
VAR_038532 disease not phenotype-associated
VAR_038533 commonName VAR_038533
VAR_038533 disease not phenotype-associated
VAR_038542 commonName VAR_038542
VAR_038542 disease not phenotype-associated
VAR_038543 commonName VAR_038543
VAR_038543 disease not phenotype-associated
VAR_038544 commonName VAR_038544
VAR_038544 disease not phenotype-associated
VAR_038546 comment A colorectal cancer sample
VAR_038546 commonName VAR_038546
VAR_038547 commonName VAR_038547
VAR_038547 disease not phenotype-associated
VAR_038548 commonName VAR_038548
VAR_038548 disease not phenotype-associated
VAR_038549 commonName VAR_038549
VAR_038549 disease not phenotype-associated
VAR_038552 comment A breast cancer sample
VAR_038552 commonName VAR_038552
VAR_038553 commonName VAR_038553
VAR_038553 disease not phenotype-associated
VAR_038554 commonName VAR_038554
VAR_038554 disease not phenotype-associated
VAR_038555 commonName VAR_038555
VAR_038555 disease not phenotype-associated
VAR_038556 commonName VAR_038556
VAR_038556 disease not phenotype-associated
VAR_038557 commonName VAR_038557
VAR_038557 disease not phenotype-associated
VAR_038562 commonName VAR_038562
VAR_038562 disease not phenotype-associated
VAR_038563 commonName VAR_038563
VAR_038563 disease not phenotype-associated
VAR_038564 commonName VAR_038564
VAR_038564 disease not phenotype-associated
VAR_038566 commonName VAR_038566
VAR_038566 disease not phenotype-associated
VAR_038567 commonName VAR_038567
VAR_038567 disease not phenotype-associated
VAR_038568 commonName VAR_038568
VAR_038568 disease not phenotype-associated
VAR_038569 commonName VAR_038569
VAR_038569 disease not phenotype-associated
VAR_038570 commonName VAR_038570
VAR_038570 disease not phenotype-associated
VAR_038571 commonName VAR_038571
VAR_038571 disease not phenotype-associated
VAR_038572 commonName VAR_038572
VAR_038572 disease not phenotype-associated
VAR_038573 commonName VAR_038573
VAR_038573 disease not phenotype-associated
VAR_038574 commonName VAR_038574
VAR_038574 disease not phenotype-associated
VAR_038575 commonName VAR_038575
VAR_038575 disease not phenotype-associated
VAR_038576 commonName VAR_038576
VAR_038576 disease not phenotype-associated
VAR_038578 commonName VAR_038578
VAR_038578 disease not phenotype-associated
VAR_038579 commonName VAR_038579
VAR_038579 disease not phenotype-associated
VAR_038580 commonName VAR_038580
VAR_038580 disease not phenotype-associated
VAR_038581 commonName VAR_038581
VAR_038581 disease not phenotype-associated
VAR_038582 commonName VAR_038582
VAR_038582 disease not phenotype-associated
VAR_038583 commonName VAR_038583
VAR_038583 disease not phenotype-associated
VAR_038584 commonName VAR_038584
VAR_038584 disease not phenotype-associated
VAR_038585 commonName VAR_038585
VAR_038585 disease not phenotype-associated
VAR_038586 commonName VAR_038586
VAR_038586 disease not phenotype-associated
VAR_038587 commonName VAR_038587
VAR_038587 disease not phenotype-associated
VAR_038588 commonName VAR_038588
VAR_038588 disease not phenotype-associated
VAR_038589 commonName VAR_038589
VAR_038589 disease not phenotype-associated
VAR_038590 commonName VAR_038590
VAR_038590 disease not phenotype-associated
VAR_038591 commonName VAR_038591
VAR_038591 disease not phenotype-associated
VAR_038592 commonName VAR_038592
VAR_038592 disease not phenotype-associated
VAR_038593 commonName VAR_038593
VAR_038593 disease not phenotype-associated
VAR_038594 commonName VAR_038594
VAR_038594 disease not phenotype-associated
VAR_038595 commonName VAR_038595
VAR_038595 disease not phenotype-associated
VAR_038596 commonName VAR_038596
VAR_038596 disease not phenotype-associated
VAR_038597 commonName VAR_038597
VAR_038597 disease not phenotype-associated
VAR_038598 commonName VAR_038598
VAR_038598 disease not phenotype-associated
VAR_038599 commonName VAR_038599
VAR_038599 disease phenotype-associated
VAR_038599 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
VAR_038600 commonName VAR_038600
VAR_038600 disease not phenotype-associated
VAR_038601 commonName VAR_038601
VAR_038601 disease phenotype-associated
VAR_038601 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
VAR_038602 commonName VAR_038602
VAR_038602 disease phenotype-associated
VAR_038602 phenoCommon Familial febrile convulsions type 8 (FEB8) [MIM:611277]
VAR_038604 commonName VAR_038604
VAR_038604 disease not phenotype-associated
VAR_038605 commonName VAR_038605
VAR_038605 disease phenotype-associated
VAR_038605 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
VAR_038606 commonName VAR_038606
VAR_038606 disease not phenotype-associated
VAR_038607 commonName VAR_038607
VAR_038607 disease not phenotype-associated
VAR_038608 commonName VAR_038608
VAR_038608 disease not phenotype-associated
VAR_038609 commonName VAR_038609
VAR_038610 commonName VAR_038610
VAR_038611 commonName VAR_038611
VAR_038612 commonName VAR_038612
VAR_038612 disease not phenotype-associated
VAR_038613 commonName VAR_038613
VAR_038614 commonName VAR_038614
VAR_038615 commonName VAR_038615
VAR_038615 disease not phenotype-associated
VAR_038616 commonName VAR_038616
VAR_038616 disease not phenotype-associated
VAR_038617 commonName VAR_038617
VAR_038617 disease not phenotype-associated
VAR_038619 commonName VAR_038619
VAR_038620 commonName VAR_038620
VAR_038620 disease not phenotype-associated
VAR_038621 commonName VAR_038621
VAR_038623 commonName VAR_038623
VAR_038624 commonName VAR_038624
VAR_038625 commonName VAR_038625
VAR_038626 commonName VAR_038626
VAR_038626 disease not phenotype-associated
VAR_038628 commonName VAR_038628
VAR_038628 disease not phenotype-associated
VAR_038630 commonName VAR_038630
VAR_038630 disease not phenotype-associated
VAR_038631 commonName VAR_038631
VAR_038631 disease not phenotype-associated
VAR_038632 commonName VAR_038632
VAR_038632 disease phenotype-associated
VAR_038632 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038633 commonName VAR_038633
VAR_038633 disease phenotype-associated
VAR_038633 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038634 commonName VAR_038634
VAR_038634 disease phenotype-associated
VAR_038634 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038635 commonName VAR_038635
VAR_038635 disease phenotype-associated
VAR_038635 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038636 commonName VAR_038636
VAR_038636 disease phenotype-associated
VAR_038636 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038638 commonName VAR_038638
VAR_038638 disease phenotype-associated
VAR_038638 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038639 commonName VAR_038639
VAR_038639 disease phenotype-associated
VAR_038639 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038640 commonName VAR_038640
VAR_038640 disease phenotype-associated
VAR_038640 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038641 commonName VAR_038641
VAR_038641 disease phenotype-associated
VAR_038641 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038642 commonName VAR_038642
VAR_038642 disease phenotype-associated
VAR_038642 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038643 commonName VAR_038643
VAR_038643 disease phenotype-associated
VAR_038643 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038644 commonName VAR_038644
VAR_038644 disease phenotype-associated
VAR_038644 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038645 commonName VAR_038645
VAR_038645 disease phenotype-associated
VAR_038645 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038646 commonName VAR_038646
VAR_038646 disease phenotype-associated
VAR_038646 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038647 commonName VAR_038647
VAR_038647 disease phenotype-associated
VAR_038647 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038648 commonName VAR_038648
VAR_038648 disease phenotype-associated
VAR_038648 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038649 commonName VAR_038649
VAR_038649 disease not phenotype-associated
VAR_038650 commonName VAR_038650
VAR_038650 disease phenotype-associated
VAR_038650 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038651 commonName VAR_038651
VAR_038651 disease phenotype-associated
VAR_038651 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038652 commonName VAR_038652
VAR_038652 disease phenotype-associated
VAR_038652 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038653 commonName VAR_038653
VAR_038653 disease phenotype-associated
VAR_038653 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038654 commonName VAR_038654
VAR_038654 disease phenotype-associated
VAR_038654 phenoCommon Obesity (OBESITY) [MIM:601665]
VAR_038655 commonName VAR_038655
VAR_038655 disease not phenotype-associated
VAR_038656 commonName VAR_038656
VAR_038656 disease not phenotype-associated
VAR_038657 commonName VAR_038657
VAR_038657 disease not phenotype-associated
VAR_038658 commonName VAR_038658
VAR_038658 disease not phenotype-associated
VAR_038659 commonName VAR_038659
VAR_038659 disease not phenotype-associated
VAR_038660 commonName VAR_038660
VAR_038660 disease not phenotype-associated
VAR_038661 commonName VAR_038661
VAR_038661 disease not phenotype-associated
VAR_038662 commonName VAR_038662
VAR_038662 disease not phenotype-associated
VAR_038663 commonName VAR_038663
VAR_038663 disease not phenotype-associated
VAR_038664 commonName VAR_038664
VAR_038664 disease not phenotype-associated
VAR_038665 commonName VAR_038665
VAR_038665 disease not phenotype-associated
VAR_038668 commonName VAR_038668
VAR_038668 disease not phenotype-associated
VAR_038669 commonName VAR_038669
VAR_038669 disease not phenotype-associated
VAR_038670 commonName VAR_038670
VAR_038670 disease not phenotype-associated
VAR_038671 commonName VAR_038671
VAR_038671 disease not phenotype-associated
VAR_038672 commonName VAR_038672
VAR_038672 disease not phenotype-associated
VAR_038673 commonName VAR_038673
VAR_038673 disease not phenotype-associated
VAR_038674 commonName VAR_038674
VAR_038674 disease not phenotype-associated
VAR_038675 commonName VAR_038675
VAR_038675 disease not phenotype-associated
VAR_038676 commonName VAR_038676
VAR_038676 disease not phenotype-associated
VAR_038677 commonName VAR_038677
VAR_038677 disease not phenotype-associated
VAR_038678 commonName VAR_038678
VAR_038678 disease not phenotype-associated
VAR_038679 commonName VAR_038679
VAR_038679 disease not phenotype-associated
VAR_038680 commonName VAR_038680
VAR_038680 disease not phenotype-associated
VAR_038681 commonName VAR_038681
VAR_038681 disease not phenotype-associated
VAR_038682 commonName VAR_038682
VAR_038682 disease not phenotype-associated
VAR_038685 comment A breast cancer sample
VAR_038685 commonName VAR_038685
VAR_038686 comment A breast cancer sample
VAR_038686 commonName VAR_038686
VAR_038687 commonName VAR_038687
VAR_038687 disease not phenotype-associated
VAR_038689 commonName VAR_038689
VAR_038689 disease not phenotype-associated
VAR_038690 commonName VAR_038690
VAR_038690 disease not phenotype-associated
VAR_038691 commonName VAR_038691
VAR_038691 disease not phenotype-associated
VAR_038692 commonName VAR_038692
VAR_038692 disease not phenotype-associated
VAR_038694 commonName VAR_038694
VAR_038694 disease not phenotype-associated
VAR_038695 commonName VAR_038695
VAR_038695 disease not phenotype-associated
VAR_038696 commonName VAR_038696
VAR_038696 disease not phenotype-associated
VAR_038697 commonName VAR_038697
VAR_038697 disease not phenotype-associated
VAR_038698 commonName VAR_038698
VAR_038698 disease not phenotype-associated
VAR_038699 commonName VAR_038699
VAR_038699 disease not phenotype-associated
VAR_038700 commonName VAR_038700
VAR_038700 disease not phenotype-associated
VAR_038701 commonName VAR_038701
VAR_038701 disease not phenotype-associated
VAR_038702 commonName VAR_038702
VAR_038702 disease not phenotype-associated
VAR_038703 commonName VAR_038703
VAR_038703 disease not phenotype-associated
VAR_038709 commonName VAR_038709
VAR_038709 disease not phenotype-associated
VAR_038710 comment A breast cancer sample
VAR_038710 commonName VAR_038710
VAR_038711 commonName VAR_038711
VAR_038711 disease not phenotype-associated
VAR_038712 commonName VAR_038712
VAR_038712 disease not phenotype-associated
VAR_038713 commonName VAR_038713
VAR_038713 disease not phenotype-associated
VAR_038714 commonName VAR_038714
VAR_038714 disease not phenotype-associated
VAR_038721 commonName VAR_038721
VAR_038721 disease not phenotype-associated
VAR_038722 commonName VAR_038722
VAR_038722 disease not phenotype-associated
VAR_038723 commonName VAR_038723
VAR_038723 disease not phenotype-associated
VAR_038724 commonName VAR_038724
VAR_038724 disease not phenotype-associated
VAR_038725 commonName VAR_038725
VAR_038725 disease not phenotype-associated
VAR_038726 commonName VAR_038726
VAR_038726 disease not phenotype-associated
VAR_038727 commonName VAR_038727
VAR_038727 disease not phenotype-associated
VAR_038728 commonName VAR_038728
VAR_038728 disease not phenotype-associated
VAR_038729 commonName VAR_038729
VAR_038729 disease not phenotype-associated
VAR_038730 commonName VAR_038730
VAR_038730 disease not phenotype-associated
VAR_038731 commonName VAR_038731
VAR_038731 disease not phenotype-associated
VAR_038732 commonName VAR_038732
VAR_038732 disease not phenotype-associated
VAR_038733 commonName VAR_038733
VAR_038733 disease not phenotype-associated
VAR_038734 commonName VAR_038734
VAR_038734 disease not phenotype-associated
VAR_038735 commonName VAR_038735
VAR_038735 disease not phenotype-associated
VAR_038736 commonName VAR_038736
VAR_038736 disease not phenotype-associated
VAR_038743 commonName VAR_038743
VAR_038743 disease not phenotype-associated
VAR_038744 commonName VAR_038744
VAR_038744 disease not phenotype-associated
VAR_038745 commonName VAR_038745
VAR_038745 disease not phenotype-associated
VAR_038746 commonName VAR_038746
VAR_038746 disease not phenotype-associated
VAR_038747 commonName VAR_038747
VAR_038747 disease not phenotype-associated
VAR_038748 commonName VAR_038748
VAR_038748 disease not phenotype-associated
VAR_038749 commonName VAR_038749
VAR_038749 disease not phenotype-associated
VAR_038750 commonName VAR_038750
VAR_038750 disease not phenotype-associated
VAR_038751 commonName VAR_038751
VAR_038751 disease not phenotype-associated
VAR_038752 commonName VAR_038752
VAR_038752 disease not phenotype-associated
VAR_038753 commonName VAR_038753
VAR_038753 disease not phenotype-associated
VAR_038755 commonName VAR_038755
VAR_038755 disease not phenotype-associated
VAR_038756 commonName VAR_038756
VAR_038756 disease not phenotype-associated
VAR_038757 commonName VAR_038757
VAR_038757 disease not phenotype-associated
VAR_038758 commonName VAR_038758
VAR_038758 disease not phenotype-associated
VAR_038759 commonName VAR_038759
VAR_038759 disease not phenotype-associated
VAR_038760 commonName VAR_038760
VAR_038760 disease not phenotype-associated
VAR_038761 commonName VAR_038761
VAR_038761 disease not phenotype-associated
VAR_038762 commonName VAR_038762
VAR_038762 disease not phenotype-associated
VAR_038763 commonName VAR_038763
VAR_038763 disease not phenotype-associated
VAR_038764 commonName VAR_038764
VAR_038764 disease not phenotype-associated
VAR_038765 commonName VAR_038765
VAR_038765 disease not phenotype-associated
VAR_038766 commonName VAR_038766
VAR_038766 disease not phenotype-associated
VAR_038767 commonName VAR_038767
VAR_038767 disease not phenotype-associated
VAR_038768 commonName VAR_038768
VAR_038768 disease not phenotype-associated
VAR_038769 commonName VAR_038769
VAR_038769 disease not phenotype-associated
VAR_038770 commonName VAR_038770
VAR_038770 disease not phenotype-associated
VAR_038771 commonName VAR_038771
VAR_038771 disease not phenotype-associated
VAR_038772 commonName VAR_038772
VAR_038772 disease not phenotype-associated
VAR_038773 commonName VAR_038773
VAR_038773 disease not phenotype-associated
VAR_038774 commonName VAR_038774
VAR_038774 disease not phenotype-associated
VAR_038775 commonName VAR_038775
VAR_038775 disease not phenotype-associated
VAR_038776 commonName VAR_038776
VAR_038776 disease not phenotype-associated
VAR_038777 commonName VAR_038777
VAR_038777 disease not phenotype-associated
VAR_038778 commonName VAR_038778
VAR_038778 disease not phenotype-associated
VAR_038782 commonName VAR_038782
VAR_038782 disease not phenotype-associated
VAR_038783 commonName VAR_038783
VAR_038783 disease not phenotype-associated
VAR_038784 commonName VAR_038784
VAR_038784 disease not phenotype-associated
VAR_038785 commonName VAR_038785
VAR_038785 disease not phenotype-associated
VAR_038786 commonName VAR_038786
VAR_038786 disease not phenotype-associated
VAR_038787 commonName VAR_038787
VAR_038787 disease not phenotype-associated
VAR_038788 commonName VAR_038788
VAR_038788 disease not phenotype-associated
VAR_038789 comment A breast cancer sample
VAR_038789 commonName VAR_038789
VAR_038790 commonName VAR_038790
VAR_038790 disease not phenotype-associated
VAR_038791 commonName VAR_038791
VAR_038791 disease not phenotype-associated
VAR_038792 commonName VAR_038792
VAR_038792 disease not phenotype-associated
VAR_038794 commonName VAR_038794
VAR_038794 disease not phenotype-associated
VAR_038795 commonName VAR_038795
VAR_038795 disease not phenotype-associated
VAR_038796 commonName VAR_038796
VAR_038796 disease phenotype-associated
VAR_038796 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_038797 commonName VAR_038797
VAR_038798 commonName VAR_038798
VAR_038798 disease phenotype-associated
VAR_038798 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150]
VAR_038799 commonName VAR_038799
VAR_038799 disease phenotype-associated
VAR_038799 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]
VAR_038800 commonName VAR_038800
VAR_038800 disease phenotype-associated
VAR_038800 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150]
VAR_038801 commonName VAR_038801
VAR_038801 disease phenotype-associated
VAR_038801 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]
VAR_038802 commonName VAR_038802
VAR_038802 disease not phenotype-associated
VAR_038803 commonName VAR_038803
VAR_038803 disease not phenotype-associated
VAR_038804 commonName VAR_038804
VAR_038804 disease phenotype-associated
VAR_038804 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
VAR_038805 commonName VAR_038805
VAR_038805 disease not phenotype-associated
VAR_038806 commonName VAR_038806
VAR_038806 disease not phenotype-associated
VAR_038807 commonName VAR_038807
VAR_038807 disease phenotype-associated
VAR_038807 phenoCommon Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]
VAR_038808 commonName VAR_038808
VAR_038808 disease not phenotype-associated
VAR_038809 commonName VAR_038809
VAR_038809 disease not phenotype-associated
VAR_038810 commonName VAR_038810
VAR_038810 disease phenotype-associated
VAR_038810 phenoCommon Atransferrinemia (ATRAF) [MIM:209300]
VAR_038811 commonName VAR_038811
VAR_038811 disease phenotype-associated
VAR_038811 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]
VAR_038812 commonName VAR_038812
VAR_038812 disease phenotype-associated
VAR_038812 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
VAR_038813 commonName VAR_038813
VAR_038813 disease phenotype-associated
VAR_038813 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
VAR_038814 commonName VAR_038814
VAR_038814 disease phenotype-associated
VAR_038814 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
VAR_038815 commonName VAR_038815
VAR_038816 commonName VAR_038816
VAR_038816 disease not phenotype-associated
VAR_038817 commonName VAR_038817
VAR_038817 disease not phenotype-associated
VAR_038818 commonName VAR_038818
VAR_038818 disease not phenotype-associated
VAR_038819 commonName VAR_038819
VAR_038819 disease not phenotype-associated
VAR_038820 commonName VAR_038820
VAR_038820 disease not phenotype-associated
VAR_038821 commonName VAR_038821
VAR_038821 disease not phenotype-associated
VAR_038822 commonName VAR_038822
VAR_038822 disease not phenotype-associated
VAR_038823 commonName VAR_038823
VAR_038823 disease not phenotype-associated
VAR_038824 commonName VAR_038824
VAR_038824 disease not phenotype-associated
VAR_038830 commonName VAR_038830
VAR_038830 disease not phenotype-associated
VAR_038831 commonName VAR_038831
VAR_038831 disease not phenotype-associated
VAR_038832 commonName VAR_038832
VAR_038832 disease not phenotype-associated
VAR_038833 commonName VAR_038833
VAR_038833 disease not phenotype-associated
VAR_038834 commonName VAR_038834
VAR_038834 disease not phenotype-associated
VAR_038835 commonName VAR_038835
VAR_038835 disease not phenotype-associated
VAR_038836 commonName VAR_038836
VAR_038836 disease not phenotype-associated
VAR_038837 commonName VAR_038837
VAR_038837 disease not phenotype-associated
VAR_038838 commonName VAR_038838
VAR_038838 disease not phenotype-associated
VAR_038839 commonName VAR_038839
VAR_038839 disease not phenotype-associated
VAR_038840 commonName VAR_038840
VAR_038840 disease not phenotype-associated
VAR_038841 commonName VAR_038841
VAR_038841 disease not phenotype-associated
VAR_038845 commonName VAR_038845
VAR_038845 disease not phenotype-associated
VAR_038846 commonName VAR_038846
VAR_038846 disease not phenotype-associated
VAR_038847 commonName VAR_038847
VAR_038847 disease not phenotype-associated
VAR_038848 commonName VAR_038848
VAR_038848 disease not phenotype-associated
VAR_038849 commonName VAR_038849
VAR_038849 disease not phenotype-associated
VAR_038850 commonName VAR_038850
VAR_038850 disease not phenotype-associated
VAR_038851 commonName VAR_038851
VAR_038851 disease not phenotype-associated
VAR_038852 commonName VAR_038852
VAR_038852 disease not phenotype-associated
VAR_038853 commonName VAR_038853
VAR_038853 disease not phenotype-associated
VAR_038854 commonName VAR_038854
VAR_038854 disease not phenotype-associated
VAR_038855 commonName VAR_038855
VAR_038855 disease not phenotype-associated
VAR_038856 commonName VAR_038856
VAR_038856 disease not phenotype-associated
VAR_038860 commonName VAR_038860
VAR_038860 disease not phenotype-associated
VAR_038861 commonName VAR_038861
VAR_038861 disease not phenotype-associated
VAR_038862 commonName VAR_038862
VAR_038862 disease not phenotype-associated
VAR_038863 commonName VAR_038863
VAR_038863 disease not phenotype-associated
VAR_038864 commonName VAR_038864
VAR_038864 disease not phenotype-associated
VAR_038865 commonName VAR_038865
VAR_038865 disease not phenotype-associated
VAR_038866 commonName VAR_038866
VAR_038866 disease not phenotype-associated
VAR_038867 commonName VAR_038867
VAR_038867 disease not phenotype-associated
VAR_038868 commonName VAR_038868
VAR_038868 disease not phenotype-associated
VAR_038869 commonName VAR_038869
VAR_038869 disease not phenotype-associated
VAR_038870 commonName VAR_038870
VAR_038870 disease not phenotype-associated
VAR_038871 commonName VAR_038871
VAR_038871 disease not phenotype-associated
VAR_038872 commonName VAR_038872
VAR_038872 disease not phenotype-associated
VAR_038873 commonName VAR_038873
VAR_038873 disease not phenotype-associated
VAR_038874 commonName VAR_038874
VAR_038874 disease not phenotype-associated
VAR_038875 commonName VAR_038875
VAR_038875 disease not phenotype-associated
VAR_038877 commonName VAR_038877
VAR_038877 disease not phenotype-associated
VAR_038878 commonName VAR_038878
VAR_038878 disease not phenotype-associated
VAR_038879 commonName VAR_038879
VAR_038879 disease not phenotype-associated
VAR_038880 commonName VAR_038880
VAR_038880 disease phenotype-associated
VAR_038880 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038881 commonName VAR_038881
VAR_038881 disease phenotype-associated
VAR_038881 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038882 commonName VAR_038882
VAR_038882 disease phenotype-associated
VAR_038882 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038883 commonName VAR_038883
VAR_038883 disease phenotype-associated
VAR_038883 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038884 commonName VAR_038884
VAR_038884 disease phenotype-associated
VAR_038884 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038886 commonName VAR_038886
VAR_038886 disease phenotype-associated
VAR_038886 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_038889 commonName VAR_038889
VAR_038889 disease phenotype-associated
VAR_038889 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_038890 commonName VAR_038890
VAR_038890 disease phenotype-associated
VAR_038890 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_038891 commonName VAR_038891
VAR_038891 disease phenotype-associated
VAR_038891 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_038892 commonName VAR_038892
VAR_038892 disease phenotype-associated
VAR_038892 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_038893 commonName VAR_038893
VAR_038893 disease phenotype-associated
VAR_038893 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
VAR_038894 commonName VAR_038894
VAR_038894 disease not phenotype-associated
VAR_038898 commonName VAR_038898
VAR_038898 disease phenotype-associated
HbVar.681 protEffect HBD 143(H20) Ala>Asp
VAR_038898 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_038899 commonName VAR_038899
VAR_038899 disease phenotype-associated
VAR_038899 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_038900 commonName VAR_038900
VAR_038900 disease phenotype-associated
VAR_038900 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_038901 commonName VAR_038901
VAR_038901 disease not phenotype-associated
VAR_038902 commonName VAR_038902
VAR_038902 disease phenotype-associated
VAR_038902 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_038903 commonName VAR_038903
VAR_038903 disease phenotype-associated
VAR_038903 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_038904 commonName VAR_038904
VAR_038904 disease not phenotype-associated
VAR_038906 commonName VAR_038906
VAR_038906 disease not phenotype-associated
VAR_038907 commonName VAR_038907
VAR_038907 disease not phenotype-associated
VAR_038916 commonName VAR_038916
VAR_038916 disease not phenotype-associated
VAR_038917 commonName VAR_038917
VAR_038917 disease not phenotype-associated
VAR_038918 commonName VAR_038918
VAR_038918 disease not phenotype-associated
VAR_038919 commonName VAR_038919
VAR_038919 disease not phenotype-associated
VAR_038925 commonName VAR_038925
VAR_038925 disease not phenotype-associated
VAR_038926 commonName VAR_038926
VAR_038926 disease not phenotype-associated
VAR_038927 commonName VAR_038927
VAR_038927 disease not phenotype-associated
VAR_038928 comment A breast cancer sample
VAR_038928 commonName VAR_038928
VAR_038929 commonName VAR_038929
VAR_038929 disease not phenotype-associated
VAR_038930 commonName VAR_038930
VAR_038930 disease not phenotype-associated
VAR_038931 commonName VAR_038931
VAR_038931 disease not phenotype-associated
VAR_038932 commonName VAR_038932
VAR_038932 disease not phenotype-associated
VAR_038933 commonName VAR_038933
VAR_038933 disease not phenotype-associated
VAR_038934 commonName VAR_038934
VAR_038934 disease not phenotype-associated
VAR_038935 commonName VAR_038935
VAR_038935 disease not phenotype-associated
VAR_038936 commonName VAR_038936
VAR_038936 disease not phenotype-associated
VAR_038937 commonName VAR_038937
VAR_038937 disease not phenotype-associated
VAR_038942 commonName VAR_038942
VAR_038942 disease not phenotype-associated
VAR_038943 commonName VAR_038943
VAR_038943 disease not phenotype-associated
VAR_038944 commonName VAR_038944
VAR_038944 disease not phenotype-associated
VAR_038945 commonName VAR_038945
VAR_038945 disease not phenotype-associated
VAR_038946 commonName VAR_038946
VAR_038946 disease not phenotype-associated
VAR_038947 commonName VAR_038947
VAR_038947 disease phenotype-associated
VAR_038947 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_038948 commonName VAR_038948
VAR_038948 disease phenotype-associated
VAR_038948 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_038949 commonName VAR_038949
VAR_038949 disease not phenotype-associated
VAR_038950 commonName VAR_038950
VAR_038950 disease not phenotype-associated
VAR_038951 commonName VAR_038951
VAR_038951 disease not phenotype-associated
VAR_038952 commonName VAR_038952
VAR_038952 disease not phenotype-associated
VAR_038953 commonName VAR_038953
VAR_038953 disease not phenotype-associated
VAR_038954 commonName VAR_038954
VAR_038954 disease not phenotype-associated
VAR_038955 commonName VAR_038955
VAR_038955 disease not phenotype-associated
VAR_038957 commonName VAR_038957
VAR_038957 disease not phenotype-associated
VAR_038958 commonName VAR_038958
VAR_038958 disease not phenotype-associated
VAR_038959 commonName VAR_038959
VAR_038959 disease phenotype-associated
VAR_038959 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038960 commonName VAR_038960
VAR_038960 disease not phenotype-associated
VAR_038961 commonName VAR_038961
VAR_038961 disease phenotype-associated
VAR_038961 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038962 commonName VAR_038962
VAR_038962 disease phenotype-associated
VAR_038962 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038963 commonName VAR_038963
VAR_038964 commonName VAR_038964
VAR_038964 disease phenotype-associated
VAR_038964 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038965 commonName VAR_038965
VAR_038965 disease phenotype-associated
VAR_038965 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038966 commonName VAR_038966
VAR_038966 disease phenotype-associated
VAR_038966 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038967 commonName VAR_038967
VAR_038967 disease phenotype-associated
VAR_038967 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038968 commonName VAR_038968
VAR_038968 disease phenotype-associated
VAR_038968 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038969 commonName VAR_038969
VAR_038969 disease phenotype-associated
VAR_038969 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038970 commonName VAR_038970
VAR_038970 disease phenotype-associated
VAR_038970 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038971 commonName VAR_038971
VAR_038971 disease phenotype-associated
VAR_038971 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038972 commonName VAR_038972
VAR_038972 disease phenotype-associated
VAR_038972 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038973 commonName VAR_038973
VAR_038973 disease phenotype-associated
VAR_038973 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038974 commonName VAR_038974
VAR_038974 disease phenotype-associated
VAR_038974 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038975 commonName VAR_038975
VAR_038975 disease phenotype-associated
VAR_038975 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038976 commonName VAR_038976
VAR_038976 disease phenotype-associated
VAR_038976 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038977 commonName VAR_038977
VAR_038977 disease phenotype-associated
VAR_038977 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038978 commonName VAR_038978
VAR_038978 disease phenotype-associated
VAR_038978 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038979 commonName VAR_038979
VAR_038979 disease phenotype-associated
VAR_038979 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038980 commonName VAR_038980
VAR_038980 disease phenotype-associated
VAR_038980 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038981 commonName VAR_038981
VAR_038982 commonName VAR_038982
VAR_038982 disease phenotype-associated
VAR_038982 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038983 commonName VAR_038983
VAR_038983 disease not phenotype-associated
VAR_038984 commonName VAR_038984
VAR_038984 disease phenotype-associated
VAR_038984 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038985 commonName VAR_038985
VAR_038985 disease phenotype-associated
VAR_038985 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038986 commonName VAR_038986
VAR_038986 disease phenotype-associated
VAR_038986 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038987 commonName VAR_038987
VAR_038987 disease phenotype-associated
VAR_038987 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038988 commonName VAR_038988
VAR_038988 disease phenotype-associated
VAR_038988 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]
VAR_038989 commonName VAR_038989
VAR_038989 disease not phenotype-associated
VAR_038990 commonName VAR_038990
VAR_038990 disease not phenotype-associated
VAR_038991 commonName VAR_038991
VAR_038991 disease not phenotype-associated
VAR_038992 commonName VAR_038992
VAR_038992 disease not phenotype-associated
VAR_038993 commonName VAR_038993
VAR_038993 disease not phenotype-associated
VAR_038994 commonName VAR_038994
VAR_038994 disease not phenotype-associated
VAR_038995 commonName VAR_038995
VAR_038995 disease not phenotype-associated
VAR_038996 commonName VAR_038996
VAR_038996 disease not phenotype-associated
VAR_038997 commonName VAR_038997
VAR_038997 disease not phenotype-associated
VAR_038998 commonName VAR_038998
VAR_038998 disease not phenotype-associated
VAR_038999 commonName VAR_038999
VAR_038999 disease not phenotype-associated
VAR_039000 commonName VAR_039000
VAR_039000 disease not phenotype-associated
VAR_039001 commonName VAR_039001
VAR_039001 disease not phenotype-associated
VAR_039002 commonName VAR_039002
VAR_039002 disease not phenotype-associated
VAR_039003 commonName VAR_039003
VAR_039003 disease not phenotype-associated
VAR_039004 commonName VAR_039004
VAR_039004 disease not phenotype-associated
VAR_039005 commonName VAR_039005
VAR_039005 disease not phenotype-associated
VAR_039006 commonName VAR_039006
VAR_039006 disease not phenotype-associated
VAR_039007 commonName VAR_039007
VAR_039007 disease not phenotype-associated
VAR_039008 commonName VAR_039008
VAR_039008 disease not phenotype-associated
VAR_039010 commonName VAR_039010
VAR_039010 disease not phenotype-associated
VAR_039013 commonName VAR_039013
VAR_039013 disease not phenotype-associated
VAR_039014 commonName VAR_039014
VAR_039014 disease not phenotype-associated
VAR_039015 commonName VAR_039015
VAR_039015 disease not phenotype-associated
VAR_039016 commonName VAR_039016
VAR_039016 disease not phenotype-associated
VAR_039017 commonName VAR_039017
VAR_039017 disease not phenotype-associated
VAR_039018 commonName VAR_039018
VAR_039018 disease not phenotype-associated
VAR_039019 commonName VAR_039019
VAR_039019 disease not phenotype-associated
VAR_039020 commonName VAR_039020
VAR_039020 disease phenotype-associated
VAR_039020 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039021 commonName VAR_039021
VAR_039021 disease phenotype-associated
VAR_039021 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_039022 commonName VAR_039022
VAR_039022 disease phenotype-associated
VAR_039022 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039023 commonName VAR_039023
VAR_039023 disease phenotype-associated
VAR_039023 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_039024 commonName VAR_039024
VAR_039025 commonName VAR_039025
VAR_039025 disease not phenotype-associated
VAR_039026 commonName VAR_039026
VAR_039026 disease phenotype-associated
VAR_039026 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_039027 commonName VAR_039027
VAR_039027 disease phenotype-associated
VAR_039027 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_039028 commonName VAR_039028
VAR_039028 disease phenotype-associated
VAR_039028 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039029 commonName VAR_039029
VAR_039029 disease not phenotype-associated
VAR_039030 commonName VAR_039030
VAR_039030 disease phenotype-associated
VAR_039030 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039031 commonName VAR_039031
VAR_039031 disease phenotype-associated
VAR_039031 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039032 commonName VAR_039032
VAR_039032 disease phenotype-associated
VAR_039032 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039033 commonName VAR_039033
VAR_039033 disease phenotype-associated
VAR_039033 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_039033 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039034 commonName VAR_039034
VAR_039034 disease phenotype-associated
VAR_039034 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039035 commonName VAR_039035
VAR_039035 disease phenotype-associated
VAR_039035 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039036 commonName VAR_039036
VAR_039036 disease phenotype-associated
VAR_039036 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039037 commonName VAR_039037
VAR_039038 commonName VAR_039038
VAR_039038 disease phenotype-associated
VAR_039038 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
VAR_039039 commonName VAR_039039
VAR_039039 disease not phenotype-associated
VAR_039040 commonName VAR_039040
VAR_039040 disease not phenotype-associated
VAR_039041 commonName VAR_039041
VAR_039041 disease phenotype-associated
VAR_039041 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_039042 commonName VAR_039042
VAR_039042 disease phenotype-associated
VAR_039042 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_039043 commonName VAR_039043
VAR_039043 disease phenotype-associated
VAR_039043 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_039045 commonName VAR_039045
VAR_039045 disease phenotype-associated
VAR_039045 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]
VAR_039046 commonName VAR_039046
VAR_039046 disease not phenotype-associated
VAR_039048 commonName VAR_039048
VAR_039048 disease not phenotype-associated
VAR_039049 commonName VAR_039049
VAR_039049 disease not phenotype-associated
VAR_039050 commonName VAR_039050
VAR_039050 disease not phenotype-associated
VAR_039051 commonName VAR_039051
VAR_039051 disease not phenotype-associated
VAR_039056 commonName VAR_039056
VAR_039056 disease not phenotype-associated
VAR_039057 commonName VAR_039057
VAR_039057 disease not phenotype-associated
VAR_039058 commonName VAR_039058
VAR_039058 disease not phenotype-associated
VAR_039059 commonName VAR_039059
VAR_039059 disease not phenotype-associated
VAR_039060 commonName VAR_039060
VAR_039060 disease not phenotype-associated
VAR_039061 commonName VAR_039061
VAR_039061 disease not phenotype-associated
VAR_039062 commonName VAR_039062
VAR_039062 disease not phenotype-associated
VAR_039063 commonName VAR_039063
VAR_039063 disease not phenotype-associated
VAR_039064 commonName VAR_039064
VAR_039064 disease not phenotype-associated
VAR_039065 commonName VAR_039065
VAR_039065 disease not phenotype-associated
VAR_039066 commonName VAR_039066
VAR_039066 disease not phenotype-associated
VAR_039067 commonName VAR_039067
VAR_039067 disease not phenotype-associated
VAR_039068 commonName VAR_039068
VAR_039068 disease not phenotype-associated
VAR_039069 commonName VAR_039069
VAR_039069 disease not phenotype-associated
VAR_039070 commonName VAR_039070
VAR_039070 disease not phenotype-associated
VAR_039071 commonName VAR_039071
VAR_039071 disease not phenotype-associated
VAR_039072 commonName VAR_039072
VAR_039072 disease not phenotype-associated
VAR_039073 commonName VAR_039073
VAR_039073 disease not phenotype-associated
VAR_039074 commonName VAR_039074
VAR_039074 disease not phenotype-associated
VAR_039075 commonName VAR_039075
VAR_039075 disease not phenotype-associated
VAR_039076 commonName VAR_039076
VAR_039076 disease not phenotype-associated
VAR_039077 commonName VAR_039077
VAR_039077 disease not phenotype-associated
VAR_039078 commonName VAR_039078
VAR_039078 disease not phenotype-associated
VAR_039079 commonName VAR_039079
VAR_039079 disease phenotype-associated
VAR_039079 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039080 commonName VAR_039080
VAR_039080 disease phenotype-associated
VAR_039080 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039081 commonName VAR_039081
VAR_039081 disease phenotype-associated
VAR_039081 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039082 commonName VAR_039082
VAR_039082 disease phenotype-associated
VAR_039082 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039083 commonName VAR_039083
VAR_039083 disease phenotype-associated
VAR_039083 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039084 commonName VAR_039084
VAR_039084 disease phenotype-associated
VAR_039084 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039085 commonName VAR_039085
VAR_039085 disease phenotype-associated
VAR_039085 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039086 commonName VAR_039086
VAR_039086 disease phenotype-associated
VAR_039086 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039087 commonName VAR_039087
VAR_039087 disease phenotype-associated
VAR_039087 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039088 commonName VAR_039088
VAR_039088 disease phenotype-associated
VAR_039088 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039089 commonName VAR_039089
VAR_039089 disease phenotype-associated
VAR_039089 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039090 commonName VAR_039090
VAR_039090 disease phenotype-associated
VAR_039090 phenoCommon Canavan disease (CAND) [MIM:271900]
VAR_039091 commonName VAR_039091
VAR_039091 disease not phenotype-associated
VAR_039092 commonName VAR_039092
VAR_039092 disease phenotype-associated
VAR_039092 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039094 commonName VAR_039094
VAR_039094 disease phenotype-associated
VAR_039094 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039095 commonName VAR_039095
VAR_039095 disease not phenotype-associated
VAR_039096 commonName VAR_039096
VAR_039096 disease phenotype-associated
VAR_039096 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039097 commonName VAR_039097
VAR_039097 disease phenotype-associated
VAR_039097 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039098 commonName VAR_039098
VAR_039098 disease phenotype-associated
VAR_039098 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039099 commonName VAR_039099
VAR_039099 disease not phenotype-associated
VAR_039100 commonName VAR_039100
VAR_039100 disease phenotype-associated
VAR_039100 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039101 commonName VAR_039101
VAR_039101 disease phenotype-associated
VAR_039101 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039102 commonName VAR_039102
VAR_039102 disease phenotype-associated
VAR_039102 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039103 commonName VAR_039103
VAR_039103 disease phenotype-associated
VAR_039103 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700]
VAR_039104 commonName VAR_039104
VAR_039104 disease not phenotype-associated
VAR_039105 commonName VAR_039105
VAR_039105 disease not phenotype-associated
VAR_039106 commonName VAR_039106
VAR_039106 disease phenotype-associated
VAR_039106 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_039107 commonName VAR_039107
VAR_039107 disease phenotype-associated
VAR_039107 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_039108 commonName VAR_039108
VAR_039108 disease not phenotype-associated
VAR_039109 commonName VAR_039109
VAR_039109 disease not phenotype-associated
VAR_039110 commonName VAR_039110
VAR_039110 disease not phenotype-associated
VAR_039111 commonName VAR_039111
VAR_039111 disease not phenotype-associated
VAR_039112 commonName VAR_039112
VAR_039112 disease not phenotype-associated
VAR_039113 commonName VAR_039113
VAR_039113 disease not phenotype-associated
VAR_039114 commonName VAR_039114
VAR_039114 disease not phenotype-associated
VAR_039115 commonName VAR_039115
VAR_039115 disease not phenotype-associated
VAR_039116 commonName VAR_039116
VAR_039116 disease not phenotype-associated
VAR_039117 commonName VAR_039117
VAR_039117 disease not phenotype-associated
VAR_039118 commonName VAR_039118
VAR_039118 disease not phenotype-associated
VAR_039119 commonName VAR_039119
VAR_039119 disease not phenotype-associated
VAR_039120 commonName VAR_039120
VAR_039120 disease not phenotype-associated
VAR_039121 commonName VAR_039121
VAR_039121 disease not phenotype-associated
VAR_039122 commonName VAR_039122
VAR_039122 disease not phenotype-associated
VAR_039123 commonName VAR_039123
VAR_039123 disease not phenotype-associated
VAR_039124 commonName VAR_039124
VAR_039124 disease not phenotype-associated
VAR_039125 commonName VAR_039125
VAR_039125 disease not phenotype-associated
VAR_039126 commonName VAR_039126
VAR_039126 disease not phenotype-associated
VAR_039128 commonName VAR_039128
VAR_039128 disease not phenotype-associated
VAR_039129 commonName VAR_039129
VAR_039129 disease not phenotype-associated
VAR_039130 comment A colorectal cancer sample
VAR_039130 commonName VAR_039130
VAR_039131 commonName VAR_039131
VAR_039131 disease not phenotype-associated
VAR_039133 commonName VAR_039133
VAR_039133 disease not phenotype-associated
VAR_039134 commonName VAR_039134
VAR_039134 disease not phenotype-associated
VAR_039137 commonName VAR_039137
VAR_039137 disease not phenotype-associated
VAR_039138 commonName VAR_039138
VAR_039138 disease not phenotype-associated
VAR_039140 commonName VAR_039140
VAR_039140 disease not phenotype-associated
VAR_039141 commonName VAR_039141
VAR_039141 disease not phenotype-associated
VAR_039142 commonName VAR_039142
VAR_039142 disease not phenotype-associated
VAR_039143 commonName VAR_039143
VAR_039143 disease not phenotype-associated
VAR_039144 commonName VAR_039144
VAR_039144 disease not phenotype-associated
VAR_039145 commonName VAR_039145
VAR_039145 disease not phenotype-associated
VAR_039146 commonName VAR_039146
VAR_039146 disease not phenotype-associated
VAR_039147 commonName VAR_039147
VAR_039147 disease not phenotype-associated
VAR_039148 commonName VAR_039148
VAR_039148 disease not phenotype-associated
VAR_039149 commonName VAR_039149
VAR_039149 disease not phenotype-associated
VAR_039150 commonName VAR_039150
VAR_039150 disease not phenotype-associated
VAR_039152 commonName VAR_039152
VAR_039152 disease not phenotype-associated
VAR_039153 commonName VAR_039153
VAR_039153 disease not phenotype-associated
VAR_039154 commonName VAR_039154
VAR_039154 disease not phenotype-associated
VAR_039155 commonName VAR_039155
VAR_039155 disease not phenotype-associated
VAR_039156 commonName VAR_039156
VAR_039156 disease not phenotype-associated
VAR_039157 commonName VAR_039157
VAR_039157 disease not phenotype-associated
VAR_039158 commonName VAR_039158
VAR_039158 disease not phenotype-associated
VAR_039159 commonName VAR_039159
VAR_039159 disease not phenotype-associated
VAR_039160 commonName VAR_039160
VAR_039160 disease not phenotype-associated
VAR_039161 commonName VAR_039161
VAR_039161 disease not phenotype-associated
VAR_039162 commonName VAR_039162
VAR_039162 disease not phenotype-associated
VAR_039163 commonName VAR_039163
VAR_039163 disease not phenotype-associated
VAR_039164 commonName VAR_039164
VAR_039164 disease not phenotype-associated
VAR_039165 commonName VAR_039165
VAR_039165 disease not phenotype-associated
VAR_039166 commonName VAR_039166
VAR_039166 disease not phenotype-associated
VAR_039167 commonName VAR_039167
VAR_039167 disease not phenotype-associated
VAR_039168 commonName VAR_039168
VAR_039168 disease not phenotype-associated
VAR_039169 commonName VAR_039169
VAR_039169 disease not phenotype-associated
VAR_039170 commonName VAR_039170
VAR_039170 disease not phenotype-associated
VAR_039171 commonName VAR_039171
VAR_039171 disease not phenotype-associated
VAR_039173 commonName VAR_039173
VAR_039173 disease not phenotype-associated
VAR_039174 commonName VAR_039174
VAR_039174 disease not phenotype-associated
VAR_039175 commonName VAR_039175
VAR_039175 disease not phenotype-associated
VAR_039176 commonName VAR_039176
VAR_039176 disease not phenotype-associated
VAR_039177 commonName VAR_039177
VAR_039177 disease not phenotype-associated
VAR_039180 commonName VAR_039180
VAR_039180 disease not phenotype-associated
VAR_039181 commonName VAR_039181
VAR_039181 disease not phenotype-associated
VAR_039182 commonName VAR_039182
VAR_039182 disease not phenotype-associated
VAR_039183 commonName VAR_039183
VAR_039183 disease not phenotype-associated
VAR_039184 commonName VAR_039184
VAR_039184 disease not phenotype-associated
VAR_039185 commonName VAR_039185
VAR_039185 disease not phenotype-associated
VAR_039186 commonName VAR_039186
VAR_039186 disease not phenotype-associated
VAR_039187 commonName VAR_039187
VAR_039187 disease not phenotype-associated
VAR_039188 commonName VAR_039188
VAR_039188 disease not phenotype-associated
VAR_039189 commonName VAR_039189
VAR_039189 disease not phenotype-associated
VAR_039190 commonName VAR_039190
VAR_039190 disease not phenotype-associated
VAR_039191 commonName VAR_039191
VAR_039191 disease not phenotype-associated
VAR_039192 commonName VAR_039192
VAR_039192 disease not phenotype-associated
VAR_039193 commonName VAR_039193
VAR_039193 disease not phenotype-associated
VAR_039194 commonName VAR_039194
VAR_039194 disease not phenotype-associated
VAR_039195 commonName VAR_039195
VAR_039195 disease not phenotype-associated
VAR_039196 commonName VAR_039196
VAR_039196 disease not phenotype-associated
VAR_039197 commonName VAR_039197
VAR_039197 disease not phenotype-associated
VAR_039198 commonName VAR_039198
VAR_039198 disease not phenotype-associated
VAR_039199 commonName VAR_039199
VAR_039199 disease not phenotype-associated
VAR_039200 commonName VAR_039200
VAR_039200 disease not phenotype-associated
VAR_039201 commonName VAR_039201
VAR_039201 disease not phenotype-associated
VAR_039202 commonName VAR_039202
VAR_039202 disease not phenotype-associated
VAR_039203 commonName VAR_039203
VAR_039203 disease not phenotype-associated
VAR_039204 commonName VAR_039204
VAR_039204 disease not phenotype-associated
VAR_039205 commonName VAR_039205
VAR_039205 disease not phenotype-associated
VAR_039206 commonName VAR_039206
VAR_039206 disease not phenotype-associated
VAR_039207 commonName VAR_039207
VAR_039207 disease not phenotype-associated
VAR_039208 commonName VAR_039208
VAR_039208 disease not phenotype-associated
VAR_039209 commonName VAR_039209
VAR_039209 disease not phenotype-associated
VAR_039210 commonName VAR_039210
VAR_039210 disease not phenotype-associated
VAR_039211 commonName VAR_039211
VAR_039211 disease not phenotype-associated
VAR_039212 commonName VAR_039212
VAR_039212 disease not phenotype-associated
VAR_039213 commonName VAR_039213
VAR_039213 disease not phenotype-associated
VAR_039214 commonName VAR_039214
VAR_039214 disease not phenotype-associated
VAR_039215 commonName VAR_039215
VAR_039215 disease not phenotype-associated
VAR_039216 commonName VAR_039216
VAR_039216 disease not phenotype-associated
VAR_039217 commonName VAR_039217
VAR_039217 disease not phenotype-associated
VAR_039218 commonName VAR_039218
VAR_039218 disease not phenotype-associated
VAR_039219 commonName VAR_039219
VAR_039219 disease not phenotype-associated
VAR_039220 commonName VAR_039220
VAR_039220 disease not phenotype-associated
VAR_039221 commonName VAR_039221
VAR_039221 disease not phenotype-associated
VAR_039222 commonName VAR_039222
VAR_039222 disease not phenotype-associated
VAR_039223 commonName VAR_039223
VAR_039223 disease not phenotype-associated
VAR_039224 commonName VAR_039224
VAR_039224 disease not phenotype-associated
VAR_039225 commonName VAR_039225
VAR_039225 disease not phenotype-associated
VAR_039226 commonName VAR_039226
VAR_039226 disease not phenotype-associated
VAR_039227 commonName VAR_039227
VAR_039227 disease not phenotype-associated
VAR_039228 commonName VAR_039228
VAR_039228 disease not phenotype-associated
VAR_039229 commonName VAR_039229
VAR_039229 disease not phenotype-associated
VAR_039230 commonName VAR_039230
VAR_039230 disease not phenotype-associated
VAR_039231 comment A breast cancer sample
VAR_039231 commonName VAR_039231
VAR_039234 commonName VAR_039234
VAR_039234 disease not phenotype-associated
VAR_039236 commonName VAR_039236
VAR_039236 disease not phenotype-associated
VAR_039237 commonName VAR_039237
VAR_039237 disease not phenotype-associated
VAR_039238 commonName VAR_039238
VAR_039238 disease not phenotype-associated
VAR_039239 commonName VAR_039239
VAR_039239 disease not phenotype-associated
VAR_039240 commonName VAR_039240
VAR_039240 disease not phenotype-associated
VAR_039248 commonName VAR_039248
VAR_039248 disease not phenotype-associated
VAR_039255 commonName VAR_039255
VAR_039255 disease not phenotype-associated
VAR_039256 commonName VAR_039256
VAR_039256 disease not phenotype-associated
VAR_039257 commonName VAR_039257
VAR_039257 disease not phenotype-associated
VAR_039258 commonName VAR_039258
VAR_039258 disease not phenotype-associated
VAR_039260 commonName VAR_039260
VAR_039260 disease not phenotype-associated
VAR_039261 commonName VAR_039261
VAR_039261 disease not phenotype-associated
VAR_039263 commonName VAR_039263
VAR_039263 disease not phenotype-associated
VAR_039264 commonName VAR_039264
VAR_039264 disease not phenotype-associated
VAR_039265 commonName VAR_039265
VAR_039265 disease not phenotype-associated
VAR_039266 commonName VAR_039266
VAR_039266 disease not phenotype-associated
VAR_039267 commonName VAR_039267
VAR_039267 disease not phenotype-associated
VAR_039268 commonName VAR_039268
VAR_039268 disease not phenotype-associated
VAR_039269 commonName VAR_039269
VAR_039269 disease not phenotype-associated
VAR_039270 commonName VAR_039270
VAR_039270 disease not phenotype-associated
VAR_039271 commonName VAR_039271
VAR_039271 disease not phenotype-associated
VAR_039272 commonName VAR_039272
VAR_039272 disease not phenotype-associated
VAR_039273 commonName VAR_039273
VAR_039273 disease not phenotype-associated
VAR_039274 commonName VAR_039274
VAR_039274 disease not phenotype-associated
VAR_039276 commonName VAR_039276
VAR_039276 disease not phenotype-associated
VAR_039277 commonName VAR_039277
VAR_039277 disease not phenotype-associated
VAR_039279 commonName VAR_039279
VAR_039279 disease phenotype-associated
VAR_039279 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
VAR_039280 commonName VAR_039280
VAR_039280 disease phenotype-associated
VAR_039280 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_039281 commonName VAR_039281
VAR_039281 disease phenotype-associated
VAR_039281 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_039282 commonName VAR_039282
VAR_039282 disease phenotype-associated
VAR_039282 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
VAR_039283 commonName VAR_039283
VAR_039283 disease phenotype-associated
VAR_039283 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_039284 commonName VAR_039284
VAR_039284 disease phenotype-associated
VAR_039284 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
VAR_039285 commonName VAR_039285
VAR_039286 commonName VAR_039286
VAR_039286 disease phenotype-associated
VAR_039286 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
VAR_039287 commonName VAR_039287
VAR_039287 disease phenotype-associated
VAR_039287 phenoCommon Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]
VAR_039288 commonName VAR_039288
VAR_039288 disease phenotype-associated
VAR_039288 phenoCommon Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]
VAR_039288 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
VAR_039290 commonName VAR_039290
VAR_039290 disease not phenotype-associated
VAR_039291 commonName VAR_039291
VAR_039291 disease not phenotype-associated
VAR_039298 commonName VAR_039298
VAR_039298 disease not phenotype-associated
VAR_039299 commonName VAR_039299
VAR_039299 disease not phenotype-associated
VAR_039300 commonName VAR_039300
VAR_039300 disease not phenotype-associated
VAR_039301 comment Bladder carcinoma cell line Hu549
VAR_039301 commonName VAR_039301
VAR_039302 comment Bladder carcinoma cell line Hu549
VAR_039302 commonName VAR_039302
VAR_039303 comment Bladder carcinoma cell line Hu549
VAR_039303 commonName VAR_039303
VAR_039304 commonName VAR_039304
VAR_039304 disease not phenotype-associated
VAR_039305 commonName VAR_039305
VAR_039305 disease not phenotype-associated
VAR_039306 commonName VAR_039306
VAR_039306 disease not phenotype-associated
VAR_039307 commonName VAR_039307
VAR_039307 disease not phenotype-associated
VAR_039308 commonName VAR_039308
VAR_039308 disease not phenotype-associated
VAR_039309 commonName VAR_039309
VAR_039309 disease not phenotype-associated
VAR_039310 commonName VAR_039310
VAR_039310 disease not phenotype-associated
VAR_039311 commonName VAR_039311
VAR_039311 disease not phenotype-associated
VAR_039312 commonName VAR_039312
VAR_039312 disease not phenotype-associated
VAR_039313 commonName VAR_039313
VAR_039313 disease not phenotype-associated
VAR_039314 commonName VAR_039314
VAR_039314 disease not phenotype-associated
VAR_039315 commonName VAR_039315
VAR_039315 disease not phenotype-associated
VAR_039316 commonName VAR_039316
VAR_039316 disease not phenotype-associated
VAR_039317 commonName VAR_039317
VAR_039317 disease not phenotype-associated
VAR_039318 commonName VAR_039318
VAR_039318 disease not phenotype-associated
VAR_039319 commonName VAR_039319
VAR_039319 disease not phenotype-associated
VAR_039320 comment A colorectal cancer sample
VAR_039320 commonName VAR_039320
VAR_039321 commonName VAR_039321
VAR_039321 disease not phenotype-associated
VAR_039322 commonName VAR_039322
VAR_039322 disease not phenotype-associated
VAR_039323 commonName VAR_039323
VAR_039324 commonName VAR_039324
VAR_039324 disease not phenotype-associated
VAR_039325 commonName VAR_039325
VAR_039325 disease not phenotype-associated
VAR_039326 commonName VAR_039326
VAR_039326 disease not phenotype-associated
VAR_039327 commonName VAR_039327
VAR_039327 disease not phenotype-associated
VAR_039328 commonName VAR_039328
VAR_039328 disease not phenotype-associated
VAR_039329 commonName VAR_039329
VAR_039329 disease not phenotype-associated
VAR_039330 commonName VAR_039330
VAR_039330 disease not phenotype-associated
VAR_039332 commonName VAR_039332
VAR_039332 disease phenotype-associated
VAR_039332 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039333 commonName VAR_039333
VAR_039333 disease phenotype-associated
VAR_039333 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039334 commonName VAR_039334
VAR_039334 disease phenotype-associated
VAR_039334 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039335 commonName VAR_039335
VAR_039335 disease phenotype-associated
VAR_039335 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039336 commonName VAR_039336
VAR_039336 disease phenotype-associated
VAR_039336 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039337 commonName VAR_039337
VAR_039337 disease phenotype-associated
VAR_039337 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039338 commonName VAR_039338
VAR_039338 disease phenotype-associated
VAR_039338 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603]
VAR_039339 commonName VAR_039339
VAR_039339 disease not phenotype-associated
VAR_039340 commonName VAR_039340
VAR_039340 disease not phenotype-associated
VAR_039341 commonName VAR_039341
VAR_039341 disease not phenotype-associated
VAR_039342 commonName VAR_039342
VAR_039342 disease not phenotype-associated
VAR_039344 commonName VAR_039344
VAR_039344 disease not phenotype-associated
VAR_039345 commonName VAR_039345
VAR_039345 disease not phenotype-associated
VAR_039346 commonName VAR_039346
VAR_039346 disease not phenotype-associated
VAR_039347 commonName VAR_039347
VAR_039347 disease not phenotype-associated
VAR_039348 commonName VAR_039348
VAR_039348 disease not phenotype-associated
VAR_039349 commonName VAR_039349
VAR_039349 disease not phenotype-associated
VAR_039350 commonName VAR_039350
VAR_039350 disease not phenotype-associated
VAR_039351 commonName VAR_039351
VAR_039351 disease not phenotype-associated
VAR_039352 commonName VAR_039352
VAR_039352 disease not phenotype-associated
VAR_039353 commonName VAR_039353
VAR_039353 disease not phenotype-associated
VAR_039354 commonName VAR_039354
VAR_039354 disease not phenotype-associated
VAR_039355 commonName VAR_039355
VAR_039355 disease not phenotype-associated
VAR_039356 commonName VAR_039356
VAR_039356 disease not phenotype-associated
VAR_039357 commonName VAR_039357
VAR_039357 disease not phenotype-associated
VAR_039358 commonName VAR_039358
VAR_039358 disease not phenotype-associated
VAR_039359 commonName VAR_039359
VAR_039359 disease not phenotype-associated
VAR_039360 commonName VAR_039360
VAR_039360 disease not phenotype-associated
VAR_039361 commonName VAR_039361
VAR_039361 disease not phenotype-associated
VAR_039369 commonName VAR_039369
VAR_039369 disease not phenotype-associated
VAR_039370 commonName VAR_039370
VAR_039370 disease not phenotype-associated
VAR_039371 commonName VAR_039371
VAR_039371 disease not phenotype-associated
VAR_039372 commonName VAR_039372
VAR_039372 disease not phenotype-associated
VAR_039373 commonName VAR_039373
VAR_039373 disease not phenotype-associated
VAR_039374 commonName VAR_039374
VAR_039374 disease not phenotype-associated
VAR_039375 commonName VAR_039375
VAR_039375 disease not phenotype-associated
VAR_039376 commonName VAR_039376
VAR_039376 disease not phenotype-associated
VAR_039377 commonName VAR_039377
VAR_039377 disease not phenotype-associated
VAR_039378 commonName VAR_039378
VAR_039378 disease not phenotype-associated
VAR_039379 commonName VAR_039379
VAR_039379 disease not phenotype-associated
VAR_039380 commonName VAR_039380
VAR_039380 disease not phenotype-associated
VAR_039381 commonName VAR_039381
VAR_039381 disease not phenotype-associated
VAR_039382 commonName VAR_039382
VAR_039382 disease not phenotype-associated
VAR_039383 commonName VAR_039383
VAR_039383 disease not phenotype-associated
VAR_039384 commonName VAR_039384
VAR_039384 disease not phenotype-associated
VAR_039385 commonName VAR_039385
VAR_039385 disease not phenotype-associated
VAR_039386 commonName VAR_039386
VAR_039386 disease not phenotype-associated
VAR_039387 commonName VAR_039387
VAR_039387 disease not phenotype-associated
VAR_039388 commonName VAR_039388
VAR_039388 disease not phenotype-associated
VAR_039389 commonName VAR_039389
VAR_039389 disease not phenotype-associated
VAR_039390 commonName VAR_039390
VAR_039390 disease not phenotype-associated
VAR_039391 commonName VAR_039391
VAR_039391 disease not phenotype-associated
VAR_039393 commonName VAR_039393
VAR_039393 disease phenotype-associated
VAR_039393 phenoCommon Joubert syndrome type 7 (JBTS7) [MIM:611560]
VAR_039394 commonName VAR_039394
VAR_039395 commonName VAR_039395
VAR_039395 disease phenotype-associated
VAR_039395 phenoCommon Joubert syndrome type 7 (JBTS7) [MIM:611560]
VAR_039396 commonName VAR_039396
VAR_039396 disease not phenotype-associated
VAR_039397 commonName VAR_039397
VAR_039397 disease not phenotype-associated
VAR_039399 commonName VAR_039399
VAR_039399 disease not phenotype-associated
VAR_039400 commonName VAR_039400
VAR_039400 disease not phenotype-associated
VAR_039401 commonName VAR_039401
VAR_039401 disease not phenotype-associated
VAR_039402 commonName VAR_039402
VAR_039402 disease not phenotype-associated
VAR_039403 commonName VAR_039403
VAR_039403 disease not phenotype-associated
VAR_039405 commonName VAR_039405
VAR_039405 disease not phenotype-associated
VAR_039407 commonName VAR_039407
VAR_039407 disease not phenotype-associated
VAR_039408 commonName VAR_039408
VAR_039408 disease not phenotype-associated
VAR_039409 commonName VAR_039409
VAR_039409 disease not phenotype-associated
VAR_039410 commonName VAR_039410
VAR_039410 disease not phenotype-associated
VAR_039411 commonName VAR_039411
VAR_039411 disease not phenotype-associated
VAR_039412 comment A colorectal cancer sample
VAR_039412 commonName VAR_039412
VAR_039413 commonName VAR_039413
VAR_039413 disease not phenotype-associated
VAR_039414 commonName VAR_039414
VAR_039414 disease not phenotype-associated
VAR_039415 commonName VAR_039415
VAR_039415 disease not phenotype-associated
VAR_039416 comment A colorectal cancer sample
VAR_039416 commonName VAR_039416
VAR_039417 commonName VAR_039417
VAR_039417 disease not phenotype-associated
VAR_039418 commonName VAR_039418
VAR_039418 disease not phenotype-associated
VAR_039419 commonName VAR_039419
VAR_039419 disease not phenotype-associated
VAR_039420 commonName VAR_039420
VAR_039420 disease not phenotype-associated
VAR_039421 commonName VAR_039421
VAR_039421 disease not phenotype-associated
VAR_039422 commonName VAR_039422
VAR_039422 disease not phenotype-associated
VAR_039423 commonName VAR_039423
VAR_039423 disease not phenotype-associated
VAR_039424 commonName VAR_039424
VAR_039424 disease not phenotype-associated
VAR_039425 commonName VAR_039425
VAR_039425 disease not phenotype-associated
VAR_039426 commonName VAR_039426
VAR_039426 disease not phenotype-associated
VAR_039427 commonName VAR_039427
VAR_039427 disease not phenotype-associated
VAR_039428 commonName VAR_039428
VAR_039428 disease not phenotype-associated
VAR_039429 commonName VAR_039429
VAR_039429 disease not phenotype-associated
VAR_039430 commonName VAR_039430
VAR_039430 disease not phenotype-associated
VAR_039431 commonName VAR_039431
VAR_039431 disease not phenotype-associated
VAR_039432 commonName VAR_039432
VAR_039432 disease not phenotype-associated
VAR_039433 commonName VAR_039433
VAR_039433 disease not phenotype-associated
VAR_039434 commonName VAR_039434
VAR_039434 disease not phenotype-associated
VAR_039435 commonName VAR_039435
VAR_039435 disease not phenotype-associated
VAR_039436 commonName VAR_039436
VAR_039436 disease not phenotype-associated
VAR_039437 commonName VAR_039437
VAR_039437 disease not phenotype-associated
VAR_039438 commonName VAR_039438
VAR_039438 disease not phenotype-associated
VAR_039439 commonName VAR_039439
VAR_039439 disease not phenotype-associated
VAR_039440 commonName VAR_039440
VAR_039440 disease not phenotype-associated
VAR_039441 commonName VAR_039441
VAR_039441 disease not phenotype-associated
VAR_039442 commonName VAR_039442
VAR_039442 disease not phenotype-associated
VAR_039443 commonName VAR_039443
VAR_039443 disease not phenotype-associated
VAR_039444 commonName VAR_039444
VAR_039444 disease not phenotype-associated
VAR_039445 commonName VAR_039445
VAR_039445 disease not phenotype-associated
VAR_039446 commonName VAR_039446
VAR_039446 disease not phenotype-associated
VAR_039447 commonName VAR_039447
VAR_039447 disease not phenotype-associated
VAR_039448 commonName VAR_039448
VAR_039448 disease not phenotype-associated
VAR_039449 commonName VAR_039449
VAR_039449 disease not phenotype-associated
VAR_039450 commonName VAR_039450
VAR_039450 disease not phenotype-associated
VAR_039451 commonName VAR_039451
VAR_039451 disease not phenotype-associated
VAR_039452 commonName VAR_039452
VAR_039452 disease not phenotype-associated
VAR_039453 commonName VAR_039453
VAR_039453 disease not phenotype-associated
VAR_039454 commonName VAR_039454
VAR_039454 disease not phenotype-associated
VAR_039455 commonName VAR_039455
VAR_039455 disease not phenotype-associated
VAR_039456 commonName VAR_039456
VAR_039456 disease not phenotype-associated
VAR_039457 commonName VAR_039457
VAR_039457 disease not phenotype-associated
VAR_039458 commonName VAR_039458
VAR_039458 disease not phenotype-associated
VAR_039459 commonName VAR_039459
VAR_039459 disease not phenotype-associated
VAR_039460 commonName VAR_039460
VAR_039460 disease not phenotype-associated
VAR_039461 commonName VAR_039461
VAR_039461 disease not phenotype-associated
VAR_039462 commonName VAR_039462
VAR_039462 disease not phenotype-associated
VAR_039463 commonName VAR_039463
VAR_039463 disease not phenotype-associated
VAR_039464 commonName VAR_039464
VAR_039464 disease not phenotype-associated
VAR_039465 commonName VAR_039465
VAR_039465 disease not phenotype-associated
VAR_039466 commonName VAR_039466
VAR_039466 disease not phenotype-associated
VAR_039467 commonName VAR_039467
VAR_039467 disease not phenotype-associated
VAR_039468 commonName VAR_039468
VAR_039468 disease not phenotype-associated
VAR_039470 comment A breast cancer sample
VAR_039470 commonName VAR_039470
VAR_039471 commonName VAR_039471
VAR_039471 disease not phenotype-associated
VAR_039472 comment A colorectal cancer sample
VAR_039472 commonName VAR_039472
VAR_039473 comment A breast cancer sample
VAR_039473 commonName VAR_039473
VAR_039474 commonName VAR_039474
VAR_039474 disease phenotype-associated
VAR_039474 phenoCommon Hypomagnesemia type 4 (HOMG4) [MIM:611718]
VAR_039475 commonName VAR_039475
VAR_039475 disease phenotype-associated
VAR_039475 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039476 commonName VAR_039476
VAR_039476 disease phenotype-associated
VAR_039476 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039477 commonName VAR_039477
VAR_039477 disease phenotype-associated
VAR_039477 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039478 commonName VAR_039478
VAR_039478 disease phenotype-associated
VAR_039478 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039479 commonName VAR_039479
VAR_039479 disease phenotype-associated
VAR_039479 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039480 commonName VAR_039480
VAR_039480 disease phenotype-associated
VAR_039480 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039481 commonName VAR_039481
VAR_039481 disease phenotype-associated
VAR_039481 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039482 commonName VAR_039482
VAR_039482 disease phenotype-associated
VAR_039482 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039483 commonName VAR_039483
VAR_039483 disease phenotype-associated
VAR_039483 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039484 commonName VAR_039484
VAR_039484 disease phenotype-associated
VAR_039484 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039485 commonName VAR_039485
VAR_039485 disease phenotype-associated
VAR_039485 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039486 commonName VAR_039486
VAR_039486 disease phenotype-associated
VAR_039486 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039487 commonName VAR_039487
VAR_039487 disease phenotype-associated
VAR_039487 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039488 commonName VAR_039488
VAR_039488 disease phenotype-associated
VAR_039488 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039489 commonName VAR_039489
VAR_039489 disease phenotype-associated
VAR_039489 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039490 commonName VAR_039490
VAR_039490 disease phenotype-associated
VAR_039490 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039491 commonName VAR_039491
VAR_039491 disease phenotype-associated
VAR_039491 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039492 commonName VAR_039492
VAR_039492 disease phenotype-associated
VAR_039492 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039493 commonName VAR_039493
VAR_039493 disease phenotype-associated
VAR_039493 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039494 commonName VAR_039494
VAR_039494 disease not phenotype-associated
VAR_039495 commonName VAR_039495
VAR_039495 disease phenotype-associated
VAR_039495 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039496 commonName VAR_039496
VAR_039496 disease phenotype-associated
VAR_039496 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039497 commonName VAR_039497
VAR_039497 disease phenotype-associated
VAR_039497 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039498 commonName VAR_039498
VAR_039498 disease phenotype-associated
VAR_039498 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039499 commonName VAR_039499
VAR_039499 disease phenotype-associated
VAR_039499 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039500 commonName VAR_039500
VAR_039500 disease phenotype-associated
VAR_039500 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039501 commonName VAR_039501
VAR_039501 disease phenotype-associated
VAR_039501 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039502 commonName VAR_039502
VAR_039502 disease phenotype-associated
VAR_039502 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039503 commonName VAR_039503
VAR_039503 disease phenotype-associated
VAR_039503 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039504 commonName VAR_039504
VAR_039504 disease phenotype-associated
VAR_039504 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039505 commonName VAR_039505
VAR_039505 disease phenotype-associated
VAR_039505 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039506 commonName VAR_039506
VAR_039506 disease phenotype-associated
VAR_039506 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039507 commonName VAR_039507
VAR_039507 disease phenotype-associated
VAR_039507 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039508 commonName VAR_039508
VAR_039508 disease phenotype-associated
VAR_039508 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039509 commonName VAR_039509
VAR_039509 disease phenotype-associated
VAR_039509 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039510 commonName VAR_039510
VAR_039510 disease phenotype-associated
VAR_039510 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039511 commonName VAR_039511
VAR_039511 disease phenotype-associated
VAR_039511 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039512 commonName VAR_039512
VAR_039512 disease phenotype-associated
VAR_039512 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039513 commonName VAR_039513
VAR_039513 disease phenotype-associated
VAR_039513 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039514 commonName VAR_039514
VAR_039514 disease phenotype-associated
VAR_039514 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039515 commonName VAR_039515
VAR_039515 disease phenotype-associated
VAR_039515 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039516 commonName VAR_039516
VAR_039516 disease phenotype-associated
VAR_039516 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039517 commonName VAR_039517
VAR_039517 disease phenotype-associated
VAR_039517 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039518 commonName VAR_039518
VAR_039518 disease phenotype-associated
VAR_039518 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039519 commonName VAR_039519
VAR_039519 disease phenotype-associated
VAR_039519 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039520 commonName VAR_039520
VAR_039520 disease phenotype-associated
VAR_039520 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039521 commonName VAR_039521
VAR_039521 disease phenotype-associated
VAR_039521 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039522 commonName VAR_039522
VAR_039522 disease phenotype-associated
VAR_039522 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039523 commonName VAR_039523
VAR_039523 disease phenotype-associated
VAR_039523 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039524 commonName VAR_039524
VAR_039524 disease phenotype-associated
VAR_039524 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039525 commonName VAR_039525
VAR_039525 disease phenotype-associated
VAR_039525 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039526 commonName VAR_039526
VAR_039526 disease phenotype-associated
VAR_039526 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039527 commonName VAR_039527
VAR_039527 disease phenotype-associated
VAR_039527 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039528 commonName VAR_039528
VAR_039528 disease phenotype-associated
VAR_039528 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039529 commonName VAR_039529
VAR_039529 disease phenotype-associated
VAR_039529 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039530 commonName VAR_039530
VAR_039530 disease phenotype-associated
VAR_039530 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039531 commonName VAR_039531
VAR_039531 disease phenotype-associated
VAR_039531 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039532 commonName VAR_039532
VAR_039532 disease phenotype-associated
VAR_039532 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039533 commonName VAR_039533
VAR_039533 disease phenotype-associated
VAR_039533 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039534 commonName VAR_039534
VAR_039534 disease phenotype-associated
VAR_039534 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039535 commonName VAR_039535
VAR_039535 disease phenotype-associated
VAR_039535 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039536 commonName VAR_039536
VAR_039536 disease phenotype-associated
VAR_039536 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039537 commonName VAR_039537
VAR_039537 disease not phenotype-associated
VAR_039538 commonName VAR_039538
VAR_039538 disease not phenotype-associated
VAR_039539 commonName VAR_039539
VAR_039539 disease phenotype-associated
VAR_039539 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039540 commonName VAR_039540
VAR_039540 disease phenotype-associated
VAR_039540 phenoCommon Gitelman syndrome (GS) [MIM:263800]
VAR_039542 commonName VAR_039542
VAR_039542 disease not phenotype-associated
VAR_039546 commonName VAR_039546
VAR_039546 disease not phenotype-associated
VAR_039547 commonName VAR_039547
VAR_039547 disease not phenotype-associated
VAR_039548 commonName VAR_039548
VAR_039548 disease not phenotype-associated
VAR_039549 commonName VAR_039549
VAR_039549 disease not phenotype-associated
VAR_039550 commonName VAR_039550
VAR_039550 disease not phenotype-associated
VAR_039551 commonName VAR_039551
VAR_039551 disease not phenotype-associated
VAR_039552 commonName VAR_039552
VAR_039552 disease not phenotype-associated
VAR_039553 commonName VAR_039553
VAR_039553 disease not phenotype-associated
VAR_039554 commonName VAR_039554
VAR_039554 disease not phenotype-associated
VAR_039555 commonName VAR_039555
VAR_039555 disease not phenotype-associated
VAR_039556 commonName VAR_039556
VAR_039556 disease not phenotype-associated
VAR_039557 commonName VAR_039557
VAR_039557 disease not phenotype-associated
VAR_039558 commonName VAR_039558
VAR_039558 disease not phenotype-associated
VAR_039559 commonName VAR_039559
VAR_039559 disease not phenotype-associated
VAR_039560 commonName VAR_039560
VAR_039560 disease not phenotype-associated
VAR_039561 commonName VAR_039561
VAR_039561 disease not phenotype-associated
VAR_039562 commonName VAR_039562
VAR_039562 disease phenotype-associated
VAR_039562 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_039563 commonName VAR_039563
VAR_039563 disease phenotype-associated
VAR_039563 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_039566 commonName VAR_039566
VAR_039566 disease not phenotype-associated
VAR_039567 commonName VAR_039567
VAR_039567 disease not phenotype-associated
VAR_039568 commonName VAR_039568
VAR_039568 disease not phenotype-associated
VAR_039569 commonName VAR_039569
VAR_039569 disease not phenotype-associated
VAR_039570 commonName VAR_039570
VAR_039570 disease not phenotype-associated
VAR_039571 commonName VAR_039571
VAR_039571 disease not phenotype-associated
VAR_039572 commonName VAR_039572
VAR_039572 disease not phenotype-associated
VAR_039574 commonName VAR_039574
VAR_039574 disease not phenotype-associated
VAR_039575 commonName VAR_039575
VAR_039575 disease not phenotype-associated
VAR_039576 commonName VAR_039576
VAR_039576 disease not phenotype-associated
VAR_039577 commonName VAR_039577
VAR_039577 disease not phenotype-associated
VAR_039578 commonName VAR_039578
VAR_039578 disease not phenotype-associated
VAR_039579 commonName VAR_039579
VAR_039579 disease not phenotype-associated
VAR_039580 commonName VAR_039580
VAR_039580 disease not phenotype-associated
VAR_039582 commonName VAR_039582
VAR_039582 disease not phenotype-associated
VAR_039583 commonName VAR_039583
VAR_039583 disease not phenotype-associated
VAR_039584 commonName VAR_039584
VAR_039584 disease not phenotype-associated
VAR_039585 commonName VAR_039585
VAR_039585 disease not phenotype-associated
VAR_039586 comment A breast cancer sample
VAR_039586 commonName VAR_039586
VAR_039587 commonName VAR_039587
VAR_039587 disease phenotype-associated
VAR_039587 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039588 commonName VAR_039588
VAR_039588 disease phenotype-associated
VAR_039588 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039589 commonName VAR_039589
VAR_039589 disease phenotype-associated
VAR_039589 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039590 commonName VAR_039590
VAR_039590 disease phenotype-associated
VAR_039590 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039591 commonName VAR_039591
VAR_039591 disease phenotype-associated
VAR_039591 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039592 commonName VAR_039592
VAR_039592 disease phenotype-associated
VAR_039592 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_039592 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039593 commonName VAR_039593
VAR_039593 disease phenotype-associated
VAR_039593 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039594 commonName VAR_039594
VAR_039594 disease phenotype-associated
VAR_039594 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039595 commonName VAR_039595
VAR_039595 disease phenotype-associated
VAR_039595 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039596 commonName VAR_039596
VAR_039596 disease phenotype-associated
VAR_039596 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039597 commonName VAR_039597
VAR_039597 disease phenotype-associated
VAR_039597 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039598 commonName VAR_039598
VAR_039598 disease phenotype-associated
VAR_039598 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039599 commonName VAR_039599
VAR_039599 disease phenotype-associated
VAR_039599 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039600 commonName VAR_039600
VAR_039600 disease phenotype-associated
VAR_039600 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039601 commonName VAR_039601
VAR_039601 disease phenotype-associated
VAR_039601 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039602 commonName VAR_039602
VAR_039602 disease phenotype-associated
VAR_039602 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039603 commonName VAR_039603
VAR_039603 disease phenotype-associated
VAR_039603 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039604 commonName VAR_039604
VAR_039604 disease phenotype-associated
VAR_039604 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039605 commonName VAR_039605
VAR_039605 disease phenotype-associated
VAR_039605 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039606 commonName VAR_039606
VAR_039606 disease phenotype-associated
VAR_039606 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039607 commonName VAR_039607
VAR_039607 disease phenotype-associated
VAR_039607 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039608 commonName VAR_039608
VAR_039608 disease phenotype-associated
VAR_039608 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039609 commonName VAR_039609
VAR_039609 disease phenotype-associated
VAR_039609 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039610 comment Parathyroid tumor
VAR_039610 commonName VAR_039610
VAR_039611 commonName VAR_039611
VAR_039611 disease phenotype-associated
VAR_039611 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039612 commonName VAR_039612
VAR_039612 disease phenotype-associated
VAR_039612 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_039614 comment Parathyroid tumor
VAR_039614 commonName VAR_039614
VAR_039615 commonName VAR_039615
VAR_039615 disease phenotype-associated
VAR_039615 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_039616 commonName VAR_039616
VAR_039616 disease phenotype-associated
VAR_039616 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039617 comment Parathyroid tumor
VAR_039617 commonName VAR_039617
VAR_039618 commonName VAR_039618
VAR_039618 disease phenotype-associated
VAR_039618 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_039619 commonName VAR_039619
VAR_039619 disease phenotype-associated
VAR_039619 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039620 commonName VAR_039620
VAR_039620 disease phenotype-associated
VAR_039620 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039621 commonName VAR_039621
VAR_039621 disease phenotype-associated
VAR_039621 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039622 commonName VAR_039622
VAR_039622 disease phenotype-associated
VAR_039622 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039623 commonName VAR_039623
VAR_039623 disease phenotype-associated
VAR_039623 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039624 commonName VAR_039624
VAR_039624 disease phenotype-associated
VAR_039624 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039625 commonName VAR_039625
VAR_039625 disease phenotype-associated
VAR_039625 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039626 commonName VAR_039626
VAR_039626 disease phenotype-associated
VAR_039626 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039627 commonName VAR_039627
VAR_039627 disease phenotype-associated
VAR_039627 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039628 commonName VAR_039628
VAR_039628 disease phenotype-associated
VAR_039628 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039629 commonName VAR_039629
VAR_039629 disease phenotype-associated
VAR_039629 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039630 commonName VAR_039630
VAR_039630 disease phenotype-associated
VAR_039630 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039631 commonName VAR_039631
VAR_039631 disease phenotype-associated
VAR_039631 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039632 commonName VAR_039632
VAR_039632 disease phenotype-associated
VAR_039632 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039633 commonName VAR_039633
VAR_039633 disease phenotype-associated
VAR_039633 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039634 commonName VAR_039634
VAR_039634 disease phenotype-associated
VAR_039634 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
VAR_039634 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039635 commonName VAR_039635
VAR_039635 disease phenotype-associated
VAR_039635 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039636 commonName VAR_039636
VAR_039636 disease phenotype-associated
VAR_039636 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039637 commonName VAR_039637
VAR_039637 disease phenotype-associated
VAR_039637 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039638 commonName VAR_039638
VAR_039638 disease phenotype-associated
VAR_039638 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039639 commonName VAR_039639
VAR_039639 disease phenotype-associated
VAR_039639 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039640 commonName VAR_039640
VAR_039640 disease phenotype-associated
VAR_039640 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039641 commonName VAR_039641
VAR_039641 disease phenotype-associated
VAR_039641 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039642 commonName VAR_039642
VAR_039642 disease phenotype-associated
VAR_039642 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039643 commonName VAR_039643
VAR_039643 disease phenotype-associated
VAR_039643 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039644 commonName VAR_039644
VAR_039644 disease phenotype-associated
VAR_039644 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039645 commonName VAR_039645
VAR_039645 disease phenotype-associated
VAR_039645 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039646 commonName VAR_039646
VAR_039647 commonName VAR_039647
VAR_039647 disease phenotype-associated
VAR_039647 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_039648 commonName VAR_039648
VAR_039648 disease not phenotype-associated
VAR_039649 commonName VAR_039649
VAR_039649 disease not phenotype-associated
VAR_039650 commonName VAR_039650
VAR_039650 disease not phenotype-associated
VAR_039651 commonName VAR_039651
VAR_039651 disease not phenotype-associated
VAR_039652 commonName VAR_039652
VAR_039652 disease not phenotype-associated
VAR_039653 commonName VAR_039653
VAR_039653 disease not phenotype-associated
VAR_039654 commonName VAR_039654
VAR_039654 disease not phenotype-associated
VAR_039655 commonName VAR_039655
VAR_039655 disease not phenotype-associated
VAR_039656 commonName VAR_039656
VAR_039656 disease not phenotype-associated
VAR_039657 commonName VAR_039657
VAR_039657 disease not phenotype-associated
VAR_039658 commonName VAR_039658
VAR_039658 disease not phenotype-associated
VAR_039659 commonName VAR_039659
VAR_039659 disease not phenotype-associated
VAR_039660 commonName VAR_039660
VAR_039660 disease not phenotype-associated
VAR_039661 commonName VAR_039661
VAR_039661 disease not phenotype-associated
VAR_039662 commonName VAR_039662
VAR_039662 disease not phenotype-associated
VAR_039663 commonName VAR_039663
VAR_039663 disease not phenotype-associated
VAR_039664 commonName VAR_039664
VAR_039664 disease not phenotype-associated
VAR_039665 commonName VAR_039665
VAR_039665 disease not phenotype-associated
VAR_039666 commonName VAR_039666
VAR_039666 disease not phenotype-associated
VAR_039667 commonName VAR_039667
VAR_039667 disease not phenotype-associated
VAR_039668 commonName VAR_039668
VAR_039668 disease not phenotype-associated
VAR_039669 commonName VAR_039669
VAR_039669 disease not phenotype-associated
VAR_039670 commonName VAR_039670
VAR_039670 disease not phenotype-associated
VAR_039671 commonName VAR_039671
VAR_039671 disease not phenotype-associated
VAR_039672 commonName VAR_039672
VAR_039672 disease not phenotype-associated
VAR_039673 commonName VAR_039673
VAR_039673 disease not phenotype-associated
VAR_039674 commonName VAR_039674
VAR_039675 commonName VAR_039675
VAR_039675 disease not phenotype-associated
VAR_039676 commonName VAR_039676
VAR_039676 disease not phenotype-associated
VAR_039677 commonName VAR_039677
VAR_039677 disease not phenotype-associated
VAR_039678 commonName VAR_039678
VAR_039679 commonName VAR_039679
VAR_039679 disease not phenotype-associated
VAR_039680 commonName VAR_039680
VAR_039680 disease not phenotype-associated
VAR_039681 commonName VAR_039681
VAR_039681 disease not phenotype-associated
VAR_039682 commonName VAR_039682
VAR_039682 disease not phenotype-associated
VAR_039683 commonName VAR_039683
VAR_039683 disease not phenotype-associated
VAR_039684 commonName VAR_039684
VAR_039684 disease not phenotype-associated
VAR_039686 commonName VAR_039686
VAR_039686 disease phenotype-associated
VAR_039686 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000]
VAR_039687 commonName VAR_039687
VAR_039687 disease not phenotype-associated
VAR_039688 commonName VAR_039688
VAR_039688 disease not phenotype-associated
VAR_039689 commonName VAR_039689
VAR_039689 disease not phenotype-associated
VAR_039690 commonName VAR_039690
VAR_039690 disease not phenotype-associated
VAR_039691 commonName VAR_039691
VAR_039691 disease not phenotype-associated
VAR_039692 commonName VAR_039692
VAR_039692 disease not phenotype-associated
VAR_039693 commonName VAR_039693
VAR_039693 disease not phenotype-associated
VAR_039694 commonName VAR_039694
VAR_039694 disease not phenotype-associated
VAR_039695 commonName VAR_039695
VAR_039695 disease not phenotype-associated
VAR_039696 commonName VAR_039696
VAR_039696 disease not phenotype-associated
VAR_039697 commonName VAR_039697
VAR_039697 disease not phenotype-associated
VAR_039698 commonName VAR_039698
VAR_039698 disease not phenotype-associated
VAR_039699 commonName VAR_039699
VAR_039699 disease not phenotype-associated
VAR_039700 commonName VAR_039700
VAR_039700 disease not phenotype-associated
VAR_039701 commonName VAR_039701
VAR_039701 disease not phenotype-associated
VAR_039702 commonName VAR_039702
VAR_039702 disease not phenotype-associated
VAR_039703 commonName VAR_039703
VAR_039703 disease not phenotype-associated
VAR_039705 commonName VAR_039705
VAR_039705 disease not phenotype-associated
VAR_039706 commonName VAR_039706
VAR_039706 disease not phenotype-associated
VAR_039707 commonName VAR_039707
VAR_039707 disease not phenotype-associated
VAR_039708 commonName VAR_039708
VAR_039708 disease not phenotype-associated
VAR_039709 commonName VAR_039709
VAR_039709 disease not phenotype-associated
VAR_039710 commonName VAR_039710
VAR_039710 disease not phenotype-associated
VAR_039711 commonName VAR_039711
VAR_039711 disease not phenotype-associated
VAR_039712 commonName VAR_039712
VAR_039712 disease not phenotype-associated
VAR_039713 commonName VAR_039713
VAR_039713 disease not phenotype-associated
VAR_039714 commonName VAR_039714
VAR_039714 disease not phenotype-associated
VAR_039715 commonName VAR_039715
VAR_039715 disease not phenotype-associated
VAR_039716 commonName VAR_039716
VAR_039716 disease not phenotype-associated
VAR_039717 commonName VAR_039717
VAR_039717 disease not phenotype-associated
VAR_039718 commonName VAR_039718
VAR_039718 disease not phenotype-associated
VAR_039719 commonName VAR_039719
VAR_039719 disease not phenotype-associated
VAR_039720 commonName VAR_039720
VAR_039720 disease not phenotype-associated
VAR_039721 commonName VAR_039721
VAR_039721 disease not phenotype-associated
VAR_039722 commonName VAR_039722
VAR_039722 disease not phenotype-associated
VAR_039723 commonName VAR_039723
VAR_039723 disease not phenotype-associated
VAR_039724 commonName VAR_039724
VAR_039724 disease not phenotype-associated
VAR_039725 commonName VAR_039725
VAR_039725 disease not phenotype-associated
VAR_039726 commonName VAR_039726
VAR_039726 disease not phenotype-associated
VAR_039727 commonName VAR_039727
VAR_039727 disease not phenotype-associated
VAR_039728 commonName VAR_039728
VAR_039728 disease not phenotype-associated
VAR_039729 commonName VAR_039729
VAR_039729 disease not phenotype-associated
VAR_039730 commonName VAR_039730
VAR_039730 disease not phenotype-associated
VAR_039731 commonName VAR_039731
VAR_039731 disease not phenotype-associated
VAR_039734 commonName VAR_039734
VAR_039734 disease not phenotype-associated
VAR_039735 commonName VAR_039735
VAR_039735 disease not phenotype-associated
VAR_039736 commonName VAR_039736
VAR_039736 disease not phenotype-associated
VAR_039737 commonName VAR_039737
VAR_039737 disease not phenotype-associated
VAR_039738 commonName VAR_039738
VAR_039738 disease not phenotype-associated
VAR_039739 commonName VAR_039739
VAR_039739 disease not phenotype-associated
VAR_039740 commonName VAR_039740
VAR_039740 disease not phenotype-associated
VAR_039741 commonName VAR_039741
VAR_039741 disease not phenotype-associated
VAR_039742 commonName VAR_039742
VAR_039742 disease not phenotype-associated
VAR_039745 commonName VAR_039745
VAR_039745 disease not phenotype-associated
VAR_039746 commonName VAR_039746
VAR_039746 disease phenotype-associated
VAR_039746 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039747 commonName VAR_039747
VAR_039747 disease phenotype-associated
VAR_039747 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039748 commonName VAR_039748
VAR_039748 disease phenotype-associated
VAR_039748 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_039750 commonName VAR_039750
VAR_039750 disease not phenotype-associated
VAR_039751 commonName VAR_039751
VAR_039751 disease phenotype-associated
VAR_039751 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039752 commonName VAR_039752
VAR_039752 disease phenotype-associated
VAR_039752 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039753 commonName VAR_039753
VAR_039753 disease phenotype-associated
VAR_039753 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039754 commonName VAR_039754
VAR_039754 disease phenotype-associated
VAR_039754 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039755 commonName VAR_039755
VAR_039755 disease phenotype-associated
VAR_039755 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_039756 commonName VAR_039756
VAR_039756 disease phenotype-associated
VAR_039756 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039757 commonName VAR_039757
VAR_039757 disease phenotype-associated
VAR_039757 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039758 commonName VAR_039758
VAR_039758 disease phenotype-associated
VAR_039758 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039759 commonName VAR_039759
VAR_039759 disease phenotype-associated
VAR_039759 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039760 commonName VAR_039760
VAR_039760 disease phenotype-associated
VAR_039760 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039761 commonName VAR_039761
VAR_039761 disease phenotype-associated
VAR_039761 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039762 commonName VAR_039762
VAR_039762 disease phenotype-associated
VAR_039762 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039763 commonName VAR_039763
VAR_039763 disease phenotype-associated
VAR_039763 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039764 commonName VAR_039764
VAR_039764 disease phenotype-associated
VAR_039764 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039765 commonName VAR_039765
VAR_039765 disease phenotype-associated
VAR_039765 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039767 commonName VAR_039767
VAR_039767 disease phenotype-associated
VAR_039767 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039768 commonName VAR_039768
VAR_039768 disease phenotype-associated
VAR_039768 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039769 commonName VAR_039769
VAR_039769 disease phenotype-associated
VAR_039769 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039770 commonName VAR_039770
VAR_039770 disease phenotype-associated
VAR_039770 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_039771 commonName VAR_039771
VAR_039771 disease phenotype-associated
VAR_039771 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039772 commonName VAR_039772
VAR_039772 disease phenotype-associated
VAR_039772 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039773 commonName VAR_039773
VAR_039774 commonName VAR_039774
VAR_039774 disease phenotype-associated
VAR_039774 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039775 commonName VAR_039775
VAR_039775 disease phenotype-associated
VAR_039775 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039776 commonName VAR_039776
VAR_039776 disease phenotype-associated
VAR_039776 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039777 commonName VAR_039777
VAR_039777 disease phenotype-associated
VAR_039777 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039777 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]
VAR_039778 commonName VAR_039778
VAR_039778 disease phenotype-associated
VAR_039778 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_039779 commonName VAR_039779
VAR_039779 disease phenotype-associated
VAR_039779 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039780 commonName VAR_039780
VAR_039780 disease phenotype-associated
VAR_039780 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039781 commonName VAR_039781
VAR_039781 disease phenotype-associated
VAR_039781 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039782 commonName VAR_039782
VAR_039782 disease phenotype-associated
VAR_039782 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039783 commonName VAR_039783
VAR_039783 disease phenotype-associated
VAR_039783 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]
VAR_039784 commonName VAR_039784
VAR_039784 disease phenotype-associated
VAR_039784 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039785 commonName VAR_039785
VAR_039785 disease phenotype-associated
VAR_039785 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039786 commonName VAR_039786
VAR_039787 commonName VAR_039787
VAR_039787 disease phenotype-associated
VAR_039787 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039788 commonName VAR_039788
VAR_039788 disease phenotype-associated
VAR_039788 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039788 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039789 commonName VAR_039789
VAR_039789 disease phenotype-associated
VAR_039789 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_039789 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]
VAR_039789 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
VAR_039790 commonName VAR_039790
VAR_039791 commonName VAR_039791
VAR_039791 disease phenotype-associated
VAR_039791 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_039792 commonName VAR_039792
VAR_039793 commonName VAR_039793
VAR_039793 disease not phenotype-associated
VAR_039794 commonName VAR_039794
VAR_039794 disease not phenotype-associated
VAR_039795 commonName VAR_039795
VAR_039795 disease not phenotype-associated
VAR_039796 commonName VAR_039796
VAR_039796 disease not phenotype-associated
VAR_039797 commonName VAR_039797
VAR_039797 disease not phenotype-associated
VAR_039798 commonName VAR_039798
VAR_039798 disease not phenotype-associated
VAR_039799 commonName VAR_039799
VAR_039799 disease not phenotype-associated
VAR_039800 commonName VAR_039800
VAR_039800 disease not phenotype-associated
VAR_039803 comment A breast cancer sample
VAR_039803 commonName VAR_039803
VAR_039804 commonName VAR_039804
VAR_039804 disease not phenotype-associated
VAR_039805 commonName VAR_039805
VAR_039805 disease not phenotype-associated
VAR_039806 comment A colorectal cancer sample
VAR_039806 commonName VAR_039806
VAR_039807 commonName VAR_039807
VAR_039807 disease not phenotype-associated
VAR_039808 commonName VAR_039808
VAR_039808 disease not phenotype-associated
VAR_039809 commonName VAR_039809
VAR_039809 disease not phenotype-associated
VAR_039812 commonName VAR_039812
VAR_039812 disease not phenotype-associated
VAR_039813 comment A colorectal cancer sample
VAR_039813 commonName VAR_039813
VAR_039814 commonName VAR_039814
VAR_039814 disease not phenotype-associated
VAR_039815 commonName VAR_039815
VAR_039815 disease not phenotype-associated
VAR_039816 commonName VAR_039816
VAR_039816 disease not phenotype-associated
VAR_039817 commonName VAR_039817
VAR_039817 disease not phenotype-associated
VAR_039818 commonName VAR_039818
VAR_039818 disease not phenotype-associated
VAR_039819 commonName VAR_039819
VAR_039819 disease not phenotype-associated
VAR_039820 commonName VAR_039820
VAR_039820 disease not phenotype-associated
VAR_039821 commonName VAR_039821
VAR_039821 disease not phenotype-associated
VAR_039822 commonName VAR_039822
VAR_039822 disease not phenotype-associated
VAR_039823 commonName VAR_039823
VAR_039823 disease not phenotype-associated
VAR_039824 commonName VAR_039824
VAR_039824 disease not phenotype-associated
VAR_039825 commonName VAR_039825
VAR_039825 disease not phenotype-associated
VAR_039826 commonName VAR_039826
VAR_039826 disease not phenotype-associated
VAR_039827 commonName VAR_039827
VAR_039827 disease not phenotype-associated
VAR_039831 commonName VAR_039831
VAR_039831 disease not phenotype-associated
VAR_039832 commonName VAR_039832
VAR_039832 disease not phenotype-associated
VAR_039833 commonName VAR_039833
VAR_039833 disease not phenotype-associated
VAR_039834 commonName VAR_039834
VAR_039834 disease not phenotype-associated
VAR_039835 commonName VAR_039835
VAR_039835 disease not phenotype-associated
VAR_039836 commonName VAR_039836
VAR_039836 disease not phenotype-associated
VAR_039837 commonName VAR_039837
VAR_039837 disease not phenotype-associated
VAR_039838 commonName VAR_039838
VAR_039838 disease not phenotype-associated
VAR_039839 commonName VAR_039839
VAR_039839 disease not phenotype-associated
VAR_039840 commonName VAR_039840
VAR_039840 disease not phenotype-associated
VAR_039841 commonName VAR_039841
VAR_039841 disease not phenotype-associated
VAR_039842 commonName VAR_039842
VAR_039842 disease not phenotype-associated
VAR_039843 commonName VAR_039843
VAR_039843 disease not phenotype-associated
VAR_039844 commonName VAR_039844
VAR_039844 disease not phenotype-associated
VAR_039845 commonName VAR_039845
VAR_039845 disease not phenotype-associated
VAR_039846 commonName VAR_039846
VAR_039846 disease not phenotype-associated
VAR_039849 comment A colorectal cancer sample
VAR_039849 commonName VAR_039849
VAR_039850 comment A colorectal cancer sample
VAR_039850 commonName VAR_039850
VAR_039860 commonName VAR_039860
VAR_039860 disease not phenotype-associated
VAR_039861 commonName VAR_039861
VAR_039861 disease not phenotype-associated
VAR_039862 commonName VAR_039862
VAR_039862 disease not phenotype-associated
VAR_039863 commonName VAR_039863
VAR_039863 disease not phenotype-associated
VAR_039864 commonName VAR_039864
VAR_039864 disease not phenotype-associated
VAR_039865 commonName VAR_039865
VAR_039865 disease not phenotype-associated
VAR_039866 commonName VAR_039866
VAR_039866 disease not phenotype-associated
VAR_039867 commonName VAR_039867
VAR_039867 disease not phenotype-associated
VAR_039871 commonName VAR_039871
VAR_039871 disease not phenotype-associated
VAR_039872 commonName VAR_039872
VAR_039872 disease not phenotype-associated
VAR_039873 commonName VAR_039873
VAR_039873 disease not phenotype-associated
VAR_039874 commonName VAR_039874
VAR_039874 disease not phenotype-associated
VAR_039875 commonName VAR_039875
VAR_039875 disease not phenotype-associated
VAR_039876 commonName VAR_039876
VAR_039876 disease not phenotype-associated
VAR_039877 commonName VAR_039877
VAR_039877 disease not phenotype-associated
VAR_039878 commonName VAR_039878
VAR_039878 disease not phenotype-associated
VAR_039879 commonName VAR_039879
VAR_039879 disease not phenotype-associated
VAR_039880 commonName VAR_039880
VAR_039880 disease not phenotype-associated
VAR_039881 commonName VAR_039881
VAR_039881 disease not phenotype-associated
VAR_039882 commonName VAR_039882
VAR_039882 disease not phenotype-associated
VAR_039883 commonName VAR_039883
VAR_039883 disease not phenotype-associated
VAR_039884 commonName VAR_039884
VAR_039884 disease not phenotype-associated
VAR_039885 commonName VAR_039885
VAR_039885 disease not phenotype-associated
VAR_039886 commonName VAR_039886
VAR_039886 disease not phenotype-associated
VAR_039888 commonName VAR_039888
VAR_039888 disease phenotype-associated
VAR_039888 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039889 commonName VAR_039889
VAR_039889 disease phenotype-associated
VAR_039889 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039890 commonName VAR_039890
VAR_039890 disease phenotype-associated
VAR_039890 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039891 commonName VAR_039891
VAR_039891 disease phenotype-associated
VAR_039891 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039892 commonName VAR_039892
VAR_039892 disease phenotype-associated
VAR_039892 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039893 commonName VAR_039893
VAR_039893 disease phenotype-associated
VAR_039893 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039894 commonName VAR_039894
VAR_039894 disease phenotype-associated
VAR_039894 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_039899 commonName VAR_039899
VAR_039899 disease not phenotype-associated
VAR_039900 commonName VAR_039900
VAR_039900 disease not phenotype-associated
VAR_039901 commonName VAR_039901
VAR_039901 disease not phenotype-associated
VAR_039902 commonName VAR_039902
VAR_039902 disease not phenotype-associated
VAR_039903 commonName VAR_039903
VAR_039903 disease not phenotype-associated
VAR_039904 commonName VAR_039904
VAR_039904 disease not phenotype-associated
VAR_039905 commonName VAR_039905
VAR_039905 disease not phenotype-associated
VAR_039906 commonName VAR_039906
VAR_039906 disease not phenotype-associated
VAR_039907 commonName VAR_039907
VAR_039907 disease not phenotype-associated
VAR_039908 commonName VAR_039908
VAR_039908 disease not phenotype-associated
VAR_039909 commonName VAR_039909
VAR_039909 disease not phenotype-associated
VAR_039910 commonName VAR_039910
VAR_039910 disease not phenotype-associated
VAR_039911 commonName VAR_039911
VAR_039911 disease not phenotype-associated
VAR_039912 commonName VAR_039912
VAR_039912 disease not phenotype-associated
VAR_039913 commonName VAR_039913
VAR_039913 disease not phenotype-associated
VAR_039914 commonName VAR_039914
VAR_039914 disease not phenotype-associated
VAR_039915 commonName VAR_039915
VAR_039915 disease not phenotype-associated
VAR_039916 comment A colorectal cancer sample
VAR_039916 commonName VAR_039916
VAR_039917 commonName VAR_039917
VAR_039917 disease not phenotype-associated
VAR_039918 commonName VAR_039918
VAR_039918 disease not phenotype-associated
VAR_039919 commonName VAR_039919
VAR_039919 disease not phenotype-associated
VAR_039920 commonName VAR_039920
VAR_039920 disease not phenotype-associated
VAR_039921 commonName VAR_039921
VAR_039921 disease not phenotype-associated
VAR_039922 commonName VAR_039922
VAR_039922 disease not phenotype-associated
VAR_039923 commonName VAR_039923
VAR_039923 disease not phenotype-associated
VAR_039924 commonName VAR_039924
VAR_039924 disease not phenotype-associated
VAR_039925 commonName VAR_039925
VAR_039925 disease not phenotype-associated
VAR_039926 commonName VAR_039926
VAR_039926 disease not phenotype-associated
VAR_039927 commonName VAR_039927
VAR_039927 disease not phenotype-associated
VAR_039928 commonName VAR_039928
VAR_039928 disease not phenotype-associated
VAR_039929 commonName VAR_039929
VAR_039929 disease not phenotype-associated
VAR_039930 commonName VAR_039930
VAR_039930 disease not phenotype-associated
VAR_039931 commonName VAR_039931
VAR_039931 disease not phenotype-associated
VAR_039932 commonName VAR_039932
VAR_039932 disease not phenotype-associated
VAR_039933 commonName VAR_039933
VAR_039933 disease not phenotype-associated
VAR_039935 commonName VAR_039935
VAR_039935 disease not phenotype-associated
VAR_039936 commonName VAR_039936
VAR_039936 disease not phenotype-associated
VAR_039937 commonName VAR_039937
VAR_039937 disease not phenotype-associated
VAR_039938 comment A colorectal cancer sample
VAR_039938 commonName VAR_039938
VAR_039939 commonName VAR_039939
VAR_039939 disease not phenotype-associated
VAR_039940 commonName VAR_039940
VAR_039940 disease not phenotype-associated
VAR_039941 commonName VAR_039941
VAR_039941 disease not phenotype-associated
VAR_039942 commonName VAR_039942
VAR_039942 disease not phenotype-associated
VAR_039943 commonName VAR_039943
VAR_039943 disease not phenotype-associated
VAR_039944 commonName VAR_039944
VAR_039944 disease not phenotype-associated
VAR_039945 commonName VAR_039945
VAR_039945 disease not phenotype-associated
VAR_039948 commonName VAR_039948
VAR_039948 disease not phenotype-associated
VAR_039949 commonName VAR_039949
VAR_039949 disease not phenotype-associated
VAR_039950 commonName VAR_039950
VAR_039950 disease not phenotype-associated
VAR_039951 commonName VAR_039951
VAR_039951 disease not phenotype-associated
VAR_039952 commonName VAR_039952
VAR_039952 disease not phenotype-associated
VAR_039953 commonName VAR_039953
VAR_039953 disease not phenotype-associated
VAR_039954 commonName VAR_039954
VAR_039954 disease not phenotype-associated
VAR_039956 commonName VAR_039956
VAR_039956 disease not phenotype-associated
VAR_039957 commonName VAR_039957
VAR_039957 disease not phenotype-associated
VAR_039958 commonName VAR_039958
VAR_039958 disease not phenotype-associated
VAR_039959 commonName VAR_039959
VAR_039959 disease not phenotype-associated
VAR_039960 comment A colorectal cancer sample
VAR_039960 commonName VAR_039960
VAR_039961 commonName VAR_039961
VAR_039961 disease not phenotype-associated
VAR_039962 commonName VAR_039962
VAR_039962 disease not phenotype-associated
VAR_039963 commonName VAR_039963
VAR_039963 disease not phenotype-associated
VAR_039964 commonName VAR_039964
VAR_039964 disease not phenotype-associated
VAR_039969 commonName VAR_039969
VAR_039969 disease not phenotype-associated
VAR_039970 commonName VAR_039970
VAR_039970 disease not phenotype-associated
VAR_039971 commonName VAR_039971
VAR_039971 disease not phenotype-associated
VAR_039972 commonName VAR_039972
VAR_039972 disease not phenotype-associated
VAR_039973 commonName VAR_039973
VAR_039973 disease not phenotype-associated
VAR_039974 commonName VAR_039974
VAR_039974 disease not phenotype-associated
VAR_039979 commonName VAR_039979
VAR_039979 disease not phenotype-associated
VAR_039980 comment A colorectal cancer sample
VAR_039980 commonName VAR_039980
VAR_039981 commonName VAR_039981
VAR_039981 disease not phenotype-associated
VAR_039982 commonName VAR_039982
VAR_039982 disease not phenotype-associated
VAR_039983 commonName VAR_039983
VAR_039983 disease not phenotype-associated
VAR_039985 commonName VAR_039985
VAR_039985 disease not phenotype-associated
VAR_039986 commonName VAR_039986
VAR_039986 disease not phenotype-associated
VAR_039988 commonName VAR_039988
VAR_039988 disease not phenotype-associated
VAR_039989 commonName VAR_039989
VAR_039989 disease not phenotype-associated
VAR_039990 commonName VAR_039990
VAR_039990 disease not phenotype-associated
VAR_039991 commonName VAR_039991
VAR_039991 disease not phenotype-associated
VAR_039998 commonName VAR_039998
VAR_039998 disease not phenotype-associated
VAR_039999 commonName VAR_039999
VAR_039999 disease not phenotype-associated
VAR_040000 commonName VAR_040000
VAR_040000 disease not phenotype-associated
VAR_040001 commonName VAR_040001
VAR_040001 disease not phenotype-associated
VAR_040002 commonName VAR_040002
VAR_040002 disease not phenotype-associated
VAR_040004 commonName VAR_040004
VAR_040004 disease not phenotype-associated
VAR_040005 commonName VAR_040005
VAR_040005 disease not phenotype-associated
VAR_040006 commonName VAR_040006
VAR_040006 disease not phenotype-associated
VAR_040007 commonName VAR_040007
VAR_040007 disease not phenotype-associated
VAR_040008 commonName VAR_040008
VAR_040008 disease not phenotype-associated
VAR_040009 commonName VAR_040009
VAR_040009 disease not phenotype-associated
VAR_040010 commonName VAR_040010
VAR_040010 disease not phenotype-associated
VAR_040012 commonName VAR_040012
VAR_040012 disease phenotype-associated
VAR_040012 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040013 commonName VAR_040013
VAR_040013 disease phenotype-associated
VAR_040013 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040014 commonName VAR_040014
VAR_040014 disease phenotype-associated
VAR_040014 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040015 commonName VAR_040015
VAR_040015 disease phenotype-associated
VAR_040015 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040016 commonName VAR_040016
VAR_040016 disease phenotype-associated
VAR_040016 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040017 commonName VAR_040017
VAR_040017 disease phenotype-associated
VAR_040017 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040018 commonName VAR_040018
VAR_040018 disease phenotype-associated
VAR_040018 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040019 commonName VAR_040019
VAR_040019 disease phenotype-associated
VAR_040019 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040020 commonName VAR_040020
VAR_040020 disease phenotype-associated
VAR_040020 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040021 commonName VAR_040021
VAR_040021 disease phenotype-associated
VAR_040021 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040022 commonName VAR_040022
VAR_040022 disease phenotype-associated
VAR_040022 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040023 commonName VAR_040023
VAR_040023 disease phenotype-associated
VAR_040023 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040024 commonName VAR_040024
VAR_040024 disease phenotype-associated
VAR_040024 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040025 commonName VAR_040025
VAR_040025 disease phenotype-associated
VAR_040025 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040026 commonName VAR_040026
VAR_040026 disease phenotype-associated
VAR_040026 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040027 commonName VAR_040027
VAR_040027 disease phenotype-associated
VAR_040027 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040028 commonName VAR_040028
VAR_040028 disease phenotype-associated
VAR_040028 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040029 commonName VAR_040029
VAR_040029 disease not phenotype-associated
VAR_040030 commonName VAR_040030
VAR_040030 disease phenotype-associated
VAR_040030 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040031 commonName VAR_040031
VAR_040031 disease phenotype-associated
VAR_040031 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040032 commonName VAR_040032
VAR_040032 disease phenotype-associated
VAR_040032 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040033 commonName VAR_040033
VAR_040033 disease phenotype-associated
VAR_040033 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040034 commonName VAR_040034
VAR_040034 disease phenotype-associated
VAR_040034 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040035 commonName VAR_040035
VAR_040035 disease phenotype-associated
VAR_040035 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040036 commonName VAR_040036
VAR_040036 disease phenotype-associated
VAR_040036 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040037 commonName VAR_040037
VAR_040037 disease phenotype-associated
VAR_040037 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040038 commonName VAR_040038
VAR_040038 disease phenotype-associated
VAR_040038 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040039 commonName VAR_040039
VAR_040039 disease phenotype-associated
VAR_040039 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040040 commonName VAR_040040
VAR_040040 disease phenotype-associated
VAR_040040 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040041 commonName VAR_040041
VAR_040041 disease phenotype-associated
VAR_040041 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040042 commonName VAR_040042
VAR_040042 disease phenotype-associated
VAR_040042 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
VAR_040043 commonName VAR_040043
VAR_040043 disease not phenotype-associated
VAR_040044 commonName VAR_040044
VAR_040044 disease not phenotype-associated
VAR_040045 commonName VAR_040045
VAR_040045 disease not phenotype-associated
VAR_040046 commonName VAR_040046
VAR_040046 disease not phenotype-associated
VAR_040047 commonName VAR_040047
VAR_040047 disease not phenotype-associated
VAR_040048 commonName VAR_040048
VAR_040048 disease not phenotype-associated
VAR_040049 commonName VAR_040049
VAR_040049 disease not phenotype-associated
VAR_040050 commonName VAR_040050
VAR_040050 disease not phenotype-associated
VAR_040051 commonName VAR_040051
VAR_040051 disease not phenotype-associated
VAR_040052 commonName VAR_040052
VAR_040052 disease not phenotype-associated
VAR_040053 commonName VAR_040053
VAR_040053 disease not phenotype-associated
VAR_040054 commonName VAR_040054
VAR_040054 disease not phenotype-associated
VAR_040055 commonName VAR_040055
VAR_040055 disease not phenotype-associated
VAR_040056 commonName VAR_040056
VAR_040056 disease not phenotype-associated
VAR_040057 commonName VAR_040057
VAR_040057 disease not phenotype-associated
VAR_040058 commonName VAR_040058
VAR_040058 disease not phenotype-associated
VAR_040059 commonName VAR_040059
VAR_040059 disease not phenotype-associated
VAR_040060 commonName VAR_040060
VAR_040060 disease not phenotype-associated
VAR_040061 commonName VAR_040061
VAR_040061 disease not phenotype-associated
VAR_040062 commonName VAR_040062
VAR_040062 disease not phenotype-associated
VAR_040063 commonName VAR_040063
VAR_040063 disease not phenotype-associated
VAR_040064 commonName VAR_040064
VAR_040064 disease not phenotype-associated
VAR_040065 commonName VAR_040065
VAR_040065 disease not phenotype-associated
VAR_040066 commonName VAR_040066
VAR_040066 disease not phenotype-associated
VAR_040067 commonName VAR_040067
VAR_040067 disease not phenotype-associated
VAR_040068 commonName VAR_040068
VAR_040068 disease not phenotype-associated
VAR_040069 commonName VAR_040069
VAR_040069 disease not phenotype-associated
VAR_040070 commonName VAR_040070
VAR_040070 disease not phenotype-associated
VAR_040071 commonName VAR_040071
VAR_040071 disease not phenotype-associated
VAR_040072 commonName VAR_040072
VAR_040072 disease not phenotype-associated
VAR_040073 commonName VAR_040073
VAR_040073 disease not phenotype-associated
VAR_040074 commonName VAR_040074
VAR_040074 disease not phenotype-associated
VAR_040075 commonName VAR_040075
VAR_040075 disease not phenotype-associated
VAR_040076 commonName VAR_040076
VAR_040076 disease not phenotype-associated
VAR_040077 commonName VAR_040077
VAR_040077 disease not phenotype-associated
VAR_040348 commonName VAR_040348
VAR_040348 disease not phenotype-associated
VAR_040349 commonName VAR_040349
VAR_040349 disease not phenotype-associated
VAR_040350 commonName VAR_040350
VAR_040350 disease not phenotype-associated
VAR_040351 commonName VAR_040351
VAR_040351 disease not phenotype-associated
VAR_040352 commonName VAR_040352
VAR_040352 disease not phenotype-associated
VAR_040353 commonName VAR_040353
VAR_040353 disease not phenotype-associated
VAR_040354 commonName VAR_040354
VAR_040354 disease not phenotype-associated
VAR_040355 comment A gastric adenocarcinoma sample
VAR_040355 commonName VAR_040355
VAR_040356 commonName VAR_040356
VAR_040356 disease not phenotype-associated
VAR_040357 commonName VAR_040357
VAR_040357 disease not phenotype-associated
VAR_040358 comment A glioblastoma multiforme sample
VAR_040358 commonName VAR_040358
VAR_040359 commonName VAR_040359
VAR_040359 disease not phenotype-associated
VAR_040360 commonName VAR_040360
VAR_040360 disease not phenotype-associated
VAR_040361 commonName VAR_040361
VAR_040361 disease not phenotype-associated
VAR_040362 comment A breast infiltrating ductal carcinoma sample
VAR_040362 commonName VAR_040362
VAR_040363 commonName VAR_040363
VAR_040363 disease not phenotype-associated
VAR_040364 commonName VAR_040364
VAR_040364 disease not phenotype-associated
VAR_040365 commonName VAR_040365
VAR_040365 disease not phenotype-associated
VAR_040366 commonName VAR_040366
VAR_040366 disease not phenotype-associated
VAR_040367 commonName VAR_040367
VAR_040367 disease not phenotype-associated
VAR_040368 commonName VAR_040368
VAR_040368 disease not phenotype-associated
VAR_040369 commonName VAR_040369
VAR_040369 disease not phenotype-associated
VAR_040370 commonName VAR_040370
VAR_040370 disease not phenotype-associated
VAR_040371 commonName VAR_040371
VAR_040371 disease not phenotype-associated
VAR_040372 comment A lung large cell carcinoma sample
VAR_040372 commonName VAR_040372
VAR_040373 comment A lung squamous cell carcinoma sample
VAR_040373 commonName VAR_040373
VAR_040374 comment A lung neuroendocrine carcinoma sample
VAR_040374 commonName VAR_040374
VAR_040375 commonName VAR_040375
VAR_040375 disease not phenotype-associated
VAR_040376 comment A colorectal adenocarcinoma sample
VAR_040376 commonName VAR_040376
VAR_040377 commonName VAR_040377
VAR_040377 disease not phenotype-associated
VAR_040378 commonName VAR_040378
VAR_040378 disease not phenotype-associated
VAR_040379 comment A colorectal adenocarcinoma sample
VAR_040379 commonName VAR_040379
VAR_040380 commonName VAR_040380
VAR_040380 disease not phenotype-associated
VAR_040381 commonName VAR_040381
VAR_040381 disease not phenotype-associated
VAR_040382 comment A lung bronchoalveolar carcinoma sample
VAR_040382 commonName VAR_040382
VAR_040383 commonName VAR_040383
VAR_040383 disease not phenotype-associated
VAR_040384 commonName VAR_040384
VAR_040384 disease not phenotype-associated
VAR_040385 comment A lung adenocarcinoma sample
VAR_040385 commonName VAR_040385
VAR_040386 comment A lung squamous cell carcinoma sample
VAR_040386 commonName VAR_040386
VAR_040387 comment A lung adenocarcinoma sample
VAR_040387 commonName VAR_040387
VAR_040388 comment A lung squamous cell carcinoma sample
VAR_040388 commonName VAR_040388
VAR_040389 commonName VAR_040389
VAR_040389 disease not phenotype-associated
VAR_040390 commonName VAR_040390
VAR_040390 disease not phenotype-associated
VAR_040391 commonName VAR_040391
VAR_040391 disease not phenotype-associated
VAR_040392 comment A colorectal adenocarcinoma sample
VAR_040392 commonName VAR_040392
VAR_040393 comment A colorectal adenocarcinoma sample
VAR_040393 commonName VAR_040393
VAR_040394 comment A gastric adenocarcinoma sample
VAR_040394 commonName VAR_040394
VAR_040395 comment A lung large cell carcinoma sample
VAR_040395 commonName VAR_040395
VAR_040396 comment A metastatic melanoma sample
VAR_040396 commonName VAR_040396
VAR_040400 commonName VAR_040400
VAR_040400 disease not phenotype-associated
VAR_040401 commonName VAR_040401
VAR_040401 disease not phenotype-associated
VAR_040402 commonName VAR_040402
VAR_040402 disease not phenotype-associated
VAR_040403 commonName VAR_040403
VAR_040403 disease not phenotype-associated
VAR_040404 commonName VAR_040404
VAR_040404 disease not phenotype-associated
VAR_040405 commonName VAR_040405
VAR_040405 disease not phenotype-associated
VAR_040406 commonName VAR_040406
VAR_040406 disease not phenotype-associated
VAR_040407 commonName VAR_040407
VAR_040407 disease not phenotype-associated
VAR_040408 commonName VAR_040408
VAR_040408 disease not phenotype-associated
VAR_040409 commonName VAR_040409
VAR_040409 disease not phenotype-associated
VAR_040410 commonName VAR_040410
VAR_040410 disease not phenotype-associated
VAR_040413 commonName VAR_040413
VAR_040413 disease not phenotype-associated
VAR_040416 commonName VAR_040416
VAR_040416 disease not phenotype-associated
VAR_040417 commonName VAR_040417
VAR_040417 disease not phenotype-associated
VAR_040418 commonName VAR_040418
VAR_040418 disease not phenotype-associated
VAR_040419 commonName VAR_040419
VAR_040419 disease not phenotype-associated
VAR_040420 commonName VAR_040420
VAR_040420 disease not phenotype-associated
VAR_040421 commonName VAR_040421
VAR_040421 disease not phenotype-associated
VAR_040422 commonName VAR_040422
VAR_040422 disease not phenotype-associated
VAR_040423 commonName VAR_040423
VAR_040423 disease not phenotype-associated
VAR_040424 commonName VAR_040424
VAR_040424 disease not phenotype-associated
VAR_040425 commonName VAR_040425
VAR_040425 disease not phenotype-associated
VAR_040426 commonName VAR_040426
VAR_040426 disease not phenotype-associated
VAR_040427 commonName VAR_040427
VAR_040427 disease not phenotype-associated
VAR_040428 commonName VAR_040428
VAR_040428 disease not phenotype-associated
VAR_040429 commonName VAR_040429
VAR_040429 disease not phenotype-associated
VAR_040430 commonName VAR_040430
VAR_040430 disease not phenotype-associated
VAR_040431 commonName VAR_040431
VAR_040431 disease not phenotype-associated
VAR_040432 commonName VAR_040432
VAR_040432 disease not phenotype-associated
VAR_040436 commonName VAR_040436
VAR_040436 disease not phenotype-associated
VAR_040438 comment A colorectal adenocarcinoma sample
VAR_040438 commonName VAR_040438
VAR_040439 comment An ovarian mucinous carcinoma sample
VAR_040439 commonName VAR_040439
VAR_040440 comment A lung neuroendocrine carcinoma sample
VAR_040440 commonName VAR_040440
VAR_040441 commonName VAR_040441
VAR_040441 disease not phenotype-associated
VAR_040442 commonName VAR_040442
VAR_040442 disease not phenotype-associated
VAR_040443 commonName VAR_040443
VAR_040443 disease not phenotype-associated
VAR_040444 commonName VAR_040444
VAR_040444 disease not phenotype-associated
VAR_040445 comment A breast infiltrating ductal carcinoma sample
VAR_040445 commonName VAR_040445
VAR_040446 comment A colorectal adenocarcinoma sample
VAR_040446 commonName VAR_040446
VAR_040447 comment A lung large cell carcinoma sample
VAR_040447 commonName VAR_040447
VAR_040448 comment A lung squamous cell carcinoma sample
VAR_040448 commonName VAR_040448
VAR_040449 comment A renal clear cell carcinoma sample
VAR_040449 commonName VAR_040449
VAR_040450 comment A colorectal adenocarcinoma sample
VAR_040450 commonName VAR_040450
VAR_040451 commonName VAR_040451
VAR_040451 disease not phenotype-associated
VAR_040452 comment A lung small cell carcinoma sample
VAR_040452 commonName VAR_040452
VAR_040454 commonName VAR_040454
VAR_040454 disease not phenotype-associated
VAR_040455 commonName VAR_040455
VAR_040455 disease not phenotype-associated
VAR_040456 commonName VAR_040456
VAR_040456 disease not phenotype-associated
VAR_040457 comment A metastatic melanoma sample
VAR_040457 commonName VAR_040457
VAR_040458 commonName VAR_040458
VAR_040458 disease not phenotype-associated
VAR_040459 comment A glioblastoma multiforme sample
VAR_040459 commonName VAR_040459
VAR_040460 commonName VAR_040460
VAR_040460 disease not phenotype-associated
VAR_040461 commonName VAR_040461
VAR_040461 disease not phenotype-associated
VAR_040462 commonName VAR_040462
VAR_040462 disease not phenotype-associated
VAR_040463 commonName VAR_040463
VAR_040463 disease not phenotype-associated
VAR_040464 commonName VAR_040464
VAR_040464 disease not phenotype-associated
VAR_040465 commonName VAR_040465
VAR_040465 disease not phenotype-associated
VAR_040466 commonName VAR_040466
VAR_040466 disease not phenotype-associated
VAR_040467 commonName VAR_040467
VAR_040467 disease not phenotype-associated
VAR_040468 commonName VAR_040468
VAR_040468 disease not phenotype-associated
VAR_040469 commonName VAR_040469
VAR_040469 disease not phenotype-associated
VAR_040470 commonName VAR_040470
VAR_040470 disease not phenotype-associated
VAR_040471 comment A lung adenocarcinoma sample
VAR_040471 commonName VAR_040471
VAR_040472 commonName VAR_040472
VAR_040472 disease not phenotype-associated
VAR_040473 commonName VAR_040473
VAR_040473 disease not phenotype-associated
VAR_040474 commonName VAR_040474
VAR_040474 disease not phenotype-associated
VAR_040475 comment A lung adenocarcinoma sample
VAR_040475 commonName VAR_040475
VAR_040476 commonName VAR_040476
VAR_040476 disease not phenotype-associated
VAR_040477 commonName VAR_040477
VAR_040477 disease not phenotype-associated
VAR_040478 commonName VAR_040478
VAR_040478 disease not phenotype-associated
VAR_040479 commonName VAR_040479
VAR_040479 disease not phenotype-associated
VAR_040480 commonName VAR_040480
VAR_040480 disease not phenotype-associated
VAR_040481 commonName VAR_040481
VAR_040481 disease not phenotype-associated
VAR_040482 commonName VAR_040482
VAR_040482 disease not phenotype-associated
VAR_040483 comment A lung neuroendocrine carcinoma sample
VAR_040483 commonName VAR_040483
VAR_040484 commonName VAR_040484
VAR_040484 disease not phenotype-associated
VAR_040485 commonName VAR_040485
VAR_040485 disease not phenotype-associated
VAR_040486 commonName VAR_040486
VAR_040486 disease not phenotype-associated
VAR_040487 commonName VAR_040487
VAR_040487 disease not phenotype-associated
VAR_040488 comment A renal clear cell carcinoma sample
VAR_040488 commonName VAR_040488
HbVar.681 commonName Hb A2-Fitzroy
VAR_040489 commonName VAR_040489
VAR_040489 disease not phenotype-associated
VAR_040490 comment A lung adenocarcinoma sample
VAR_040490 commonName VAR_040490
VAR_040491 comment A gastric adenocarcinoma sample
VAR_040491 commonName VAR_040491
VAR_040492 commonName VAR_040492
VAR_040492 disease not phenotype-associated
VAR_040493 comment A glioblastoma multiforme sample
VAR_040493 commonName VAR_040493
VAR_040494 comment An ovarian serous carcinoma sample
VAR_040494 commonName VAR_040494
VAR_040495 commonName VAR_040495
VAR_040495 disease not phenotype-associated
VAR_040496 commonName VAR_040496
VAR_040496 disease not phenotype-associated
VAR_040497 commonName VAR_040497
VAR_040497 disease not phenotype-associated
VAR_040498 commonName VAR_040498
VAR_040498 disease not phenotype-associated
VAR_040499 commonName VAR_040499
VAR_040499 disease not phenotype-associated
VAR_040500 commonName VAR_040500
VAR_040500 disease not phenotype-associated
VAR_040501 commonName VAR_040501
VAR_040501 disease not phenotype-associated
VAR_040502 commonName VAR_040502
VAR_040502 disease not phenotype-associated
VAR_040503 commonName VAR_040503
VAR_040503 disease not phenotype-associated
VAR_040504 commonName VAR_040504
VAR_040504 disease not phenotype-associated
VAR_040505 commonName VAR_040505
VAR_040505 disease not phenotype-associated
VAR_040506 commonName VAR_040506
VAR_040506 disease not phenotype-associated
VAR_040507 commonName VAR_040507
VAR_040507 disease not phenotype-associated
VAR_040516 commonName VAR_040516
VAR_040516 disease not phenotype-associated
VAR_040517 commonName VAR_040517
VAR_040517 disease not phenotype-associated
VAR_040518 commonName VAR_040518
VAR_040518 disease not phenotype-associated
VAR_040519 commonName VAR_040519
VAR_040519 disease not phenotype-associated
VAR_040520 commonName VAR_040520
VAR_040520 disease not phenotype-associated
VAR_040521 commonName VAR_040521
VAR_040521 disease not phenotype-associated
VAR_040522 comment A lung neuroendocrine carcinoma sample
VAR_040522 commonName VAR_040522
VAR_040523 commonName VAR_040523
VAR_040523 disease not phenotype-associated
VAR_040524 comment A gastric adenocarcinoma sample
VAR_040524 commonName VAR_040524
VAR_040525 commonName VAR_040525
VAR_040525 disease not phenotype-associated
VAR_040526 comment A breast infiltrating ductal carcinoma sample
VAR_040526 commonName VAR_040526
VAR_040527 commonName VAR_040527
VAR_040527 disease not phenotype-associated
VAR_040528 commonName VAR_040528
VAR_040528 disease not phenotype-associated
VAR_040529 commonName VAR_040529
VAR_040529 disease not phenotype-associated
VAR_040530 commonName VAR_040530
VAR_040530 disease not phenotype-associated
VAR_040531 commonName VAR_040531
VAR_040531 disease not phenotype-associated
VAR_040532 commonName VAR_040532
VAR_040532 disease not phenotype-associated
VAR_040533 commonName VAR_040533
VAR_040533 disease not phenotype-associated
VAR_040534 comment A metastatic melanoma sample
VAR_040534 commonName VAR_040534
VAR_040535 commonName VAR_040535
VAR_040535 disease not phenotype-associated
VAR_040536 commonName VAR_040536
VAR_040536 disease not phenotype-associated
VAR_040537 commonName VAR_040537
VAR_040537 disease not phenotype-associated
VAR_040538 commonName VAR_040538
VAR_040538 disease not phenotype-associated
VAR_040539 commonName VAR_040539
VAR_040539 disease not phenotype-associated
VAR_040540 commonName VAR_040540
VAR_040540 disease not phenotype-associated
VAR_040541 commonName VAR_040541
VAR_040541 disease not phenotype-associated
VAR_040542 commonName VAR_040542
VAR_040542 disease not phenotype-associated
VAR_040543 commonName VAR_040543
VAR_040543 disease not phenotype-associated
VAR_040544 commonName VAR_040544
VAR_040544 disease not phenotype-associated
VAR_040545 commonName VAR_040545
VAR_040545 disease not phenotype-associated
VAR_040546 commonName VAR_040546
VAR_040546 disease not phenotype-associated
VAR_040547 commonName VAR_040547
VAR_040547 disease not phenotype-associated
VAR_040548 commonName VAR_040548
VAR_040548 disease not phenotype-associated
VAR_040549 commonName VAR_040549
VAR_040549 disease not phenotype-associated
VAR_040550 commonName VAR_040550
VAR_040550 disease not phenotype-associated
VAR_040551 commonName VAR_040551
VAR_040551 disease not phenotype-associated
VAR_040552 commonName VAR_040552
VAR_040552 disease not phenotype-associated
VAR_040553 commonName VAR_040553
VAR_040553 disease not phenotype-associated
VAR_040554 commonName VAR_040554
VAR_040554 disease not phenotype-associated
VAR_040555 commonName VAR_040555
VAR_040555 disease not phenotype-associated
VAR_040556 commonName VAR_040556
VAR_040556 disease not phenotype-associated
VAR_040557 commonName VAR_040557
VAR_040557 disease not phenotype-associated
VAR_040558 commonName VAR_040558
VAR_040558 disease not phenotype-associated
VAR_040559 commonName VAR_040559
VAR_040559 disease not phenotype-associated
VAR_040560 commonName VAR_040560
VAR_040560 disease not phenotype-associated
VAR_040561 commonName VAR_040561
VAR_040561 disease not phenotype-associated
VAR_040562 commonName VAR_040562
VAR_040562 disease not phenotype-associated
VAR_040563 commonName VAR_040563
VAR_040563 disease not phenotype-associated
VAR_040564 commonName VAR_040564
VAR_040564 disease not phenotype-associated
VAR_040565 commonName VAR_040565
VAR_040565 disease not phenotype-associated
VAR_040566 commonName VAR_040566
VAR_040566 disease not phenotype-associated
VAR_040567 commonName VAR_040567
VAR_040567 disease not phenotype-associated
VAR_040568 commonName VAR_040568
VAR_040568 disease not phenotype-associated
VAR_040569 commonName VAR_040569
VAR_040569 disease not phenotype-associated
VAR_040570 commonName VAR_040570
VAR_040570 disease not phenotype-associated
VAR_040571 commonName VAR_040571
VAR_040571 disease not phenotype-associated
VAR_040573 commonName VAR_040573
VAR_040573 disease not phenotype-associated
VAR_040574 comment A glioblastoma multiforme sample
VAR_040574 commonName VAR_040574
VAR_040575 comment A breast pleomorphic lobular carcinoma sample
VAR_040575 commonName VAR_040575
VAR_040576 commonName VAR_040576
VAR_040576 disease not phenotype-associated
VAR_040577 commonName VAR_040577
VAR_040577 disease not phenotype-associated
VAR_040578 commonName VAR_040578
VAR_040578 disease not phenotype-associated
VAR_040579 commonName VAR_040579
VAR_040579 disease not phenotype-associated
VAR_040580 comment A lung adenocarcinoma sample
VAR_040580 commonName VAR_040580
VAR_040581 commonName VAR_040581
VAR_040581 disease not phenotype-associated
VAR_040582 commonName VAR_040582
VAR_040582 disease not phenotype-associated
VAR_040583 commonName VAR_040583
VAR_040583 disease not phenotype-associated
VAR_040584 commonName VAR_040584
VAR_040584 disease not phenotype-associated
VAR_040585 commonName VAR_040585
VAR_040585 disease not phenotype-associated
VAR_040586 commonName VAR_040586
VAR_040586 disease not phenotype-associated
VAR_040587 commonName VAR_040587
VAR_040587 disease not phenotype-associated
VAR_040588 commonName VAR_040588
VAR_040588 disease not phenotype-associated
VAR_040591 commonName VAR_040591
VAR_040591 disease not phenotype-associated
VAR_040592 commonName VAR_040592
VAR_040592 disease not phenotype-associated
VAR_040593 commonName VAR_040593
VAR_040593 disease not phenotype-associated
VAR_040594 commonName VAR_040594
VAR_040594 disease not phenotype-associated
VAR_040595 commonName VAR_040595
VAR_040595 disease not phenotype-associated
VAR_040596 comment A metastatic melanoma sample
VAR_040596 commonName VAR_040596
VAR_040597 commonName VAR_040597
VAR_040597 disease not phenotype-associated
VAR_040599 commonName VAR_040599
VAR_040599 disease not phenotype-associated
VAR_040600 commonName VAR_040600
VAR_040600 disease not phenotype-associated
VAR_040601 comment A breast infiltrating ductal carcinoma sample
VAR_040601 commonName VAR_040601
VAR_040602 commonName VAR_040602
VAR_040602 disease not phenotype-associated
VAR_040604 comment A lung adenocarcinoma sample
VAR_040604 commonName VAR_040604
VAR_040605 commonName VAR_040605
VAR_040605 disease not phenotype-associated
VAR_040608 commonName VAR_040608
VAR_040608 disease not phenotype-associated
VAR_040609 comment A colorectal adenocarcinoma sample
VAR_040609 commonName VAR_040609
VAR_040610 commonName VAR_040610
VAR_040610 disease not phenotype-associated
VAR_040611 comment A lung neuroendocrine carcinoma sample
VAR_040611 commonName VAR_040611
VAR_040612 comment A colorectal adenocarcinoma sample
VAR_040612 commonName VAR_040612
VAR_040613 commonName VAR_040613
VAR_040613 disease not phenotype-associated
VAR_040614 commonName VAR_040614
VAR_040614 disease not phenotype-associated
VAR_040615 commonName VAR_040615
VAR_040615 disease not phenotype-associated
VAR_040616 commonName VAR_040616
VAR_040616 disease not phenotype-associated
VAR_040617 commonName VAR_040617
VAR_040617 disease not phenotype-associated
VAR_040618 comment A lung adenocarcinoma sample
VAR_040618 commonName VAR_040618
VAR_040619 commonName VAR_040619
VAR_040619 disease not phenotype-associated
VAR_040620 commonName VAR_040620
VAR_040620 disease not phenotype-associated
VAR_040621 commonName VAR_040621
VAR_040621 disease not phenotype-associated
VAR_040622 commonName VAR_040622
VAR_040622 disease not phenotype-associated
VAR_040623 comment A lung adenocarcinoma sample
VAR_040623 commonName VAR_040623
VAR_040624 commonName VAR_040624
VAR_040624 disease not phenotype-associated
VAR_040625 commonName VAR_040625
VAR_040625 disease not phenotype-associated
VAR_040626 commonName VAR_040626
VAR_040626 disease not phenotype-associated
VAR_040627 comment A metastatic melanoma sample
VAR_040627 commonName VAR_040627
VAR_040629 comment A gastric adenocarcinoma sample
VAR_040629 commonName VAR_040629
VAR_040630 comment A glioblastoma multiforme sample
VAR_040630 commonName VAR_040630
VAR_040632 comment A breast infiltrating ductal carcinoma sample
VAR_040632 commonName VAR_040632
VAR_040634 commonName VAR_040634
VAR_040634 disease not phenotype-associated
VAR_040635 commonName VAR_040635
VAR_040635 disease not phenotype-associated
VAR_040636 commonName VAR_040636
VAR_040636 disease not phenotype-associated
VAR_040637 comment A lung large cell carcinoma sample
VAR_040637 commonName VAR_040637
VAR_040638 comment A lung adenocarcinoma sample
VAR_040638 commonName VAR_040638
VAR_040639 commonName VAR_040639
VAR_040639 disease not phenotype-associated
VAR_040640 commonName VAR_040640
VAR_040640 disease not phenotype-associated
VAR_040641 commonName VAR_040641
VAR_040641 disease not phenotype-associated
VAR_040642 commonName VAR_040642
VAR_040642 disease not phenotype-associated
VAR_040643 commonName VAR_040643
VAR_040643 disease not phenotype-associated
VAR_040644 commonName VAR_040644
VAR_040644 disease not phenotype-associated
VAR_040645 commonName VAR_040645
VAR_040645 disease not phenotype-associated
VAR_040646 comment An ovarian mucinous carcinoma sample
VAR_040646 commonName VAR_040646
VAR_040647 commonName VAR_040647
VAR_040647 disease not phenotype-associated
VAR_040648 commonName VAR_040648
VAR_040648 disease not phenotype-associated
VAR_040649 commonName VAR_040649
VAR_040649 disease not phenotype-associated
VAR_040650 commonName VAR_040650
VAR_040650 disease not phenotype-associated
VAR_040651 commonName VAR_040651
VAR_040651 disease not phenotype-associated
VAR_040652 comment A lung neuroendocrine carcinoma sample
VAR_040652 commonName VAR_040652
VAR_040653 commonName VAR_040653
VAR_040653 disease not phenotype-associated
VAR_040654 comment An ovarian mucinous carcinoma sample
VAR_040654 commonName VAR_040654
VAR_040655 commonName VAR_040655
VAR_040655 disease not phenotype-associated
VAR_040659 comment A lung adenocarcinoma sample
VAR_040659 commonName VAR_040659
VAR_040660 commonName VAR_040660
VAR_040660 disease not phenotype-associated
VAR_040661 commonName VAR_040661
VAR_040661 disease not phenotype-associated
VAR_040662 commonName VAR_040662
VAR_040662 disease not phenotype-associated
VAR_040663 commonName VAR_040663
VAR_040663 disease not phenotype-associated
VAR_040664 commonName VAR_040664
VAR_040664 disease not phenotype-associated
VAR_040665 commonName VAR_040665
VAR_040665 disease not phenotype-associated
VAR_040666 comment A lung adenocarcinoma sample
VAR_040666 commonName VAR_040666
VAR_040667 comment A lung large cell carcinoma sample
VAR_040667 commonName VAR_040667
VAR_040669 comment A lung adenocarcinoma sample
VAR_040669 commonName VAR_040669
VAR_040670 commonName VAR_040670
VAR_040670 disease not phenotype-associated
VAR_040671 commonName VAR_040671
VAR_040671 disease not phenotype-associated
VAR_040672 commonName VAR_040672
VAR_040672 disease not phenotype-associated
VAR_040673 commonName VAR_040673
VAR_040673 disease not phenotype-associated
VAR_040674 commonName VAR_040674
VAR_040674 disease not phenotype-associated
VAR_040675 commonName VAR_040675
VAR_040675 disease not phenotype-associated
VAR_040676 commonName VAR_040676
VAR_040676 disease not phenotype-associated
VAR_040677 commonName VAR_040677
VAR_040677 disease not phenotype-associated
VAR_040680 commonName VAR_040680
VAR_040680 disease not phenotype-associated
VAR_040681 commonName VAR_040681
VAR_040681 disease not phenotype-associated
VAR_040682 commonName VAR_040682
VAR_040682 disease not phenotype-associated
VAR_040683 comment A lung large cell carcinoma sample
VAR_040683 commonName VAR_040683
VAR_040684 commonName VAR_040684
VAR_040684 disease not phenotype-associated
VAR_040685 commonName VAR_040685
VAR_040685 disease not phenotype-associated
VAR_040686 commonName VAR_040686
VAR_040686 disease not phenotype-associated
VAR_040687 commonName VAR_040687
VAR_040687 disease not phenotype-associated
VAR_040688 commonName VAR_040688
VAR_040688 disease not phenotype-associated
VAR_040689 commonName VAR_040689
VAR_040689 disease not phenotype-associated
VAR_040690 commonName VAR_040690
VAR_040690 disease not phenotype-associated
VAR_040693 commonName VAR_040693
VAR_040693 disease not phenotype-associated
VAR_040694 commonName VAR_040694
VAR_040694 disease not phenotype-associated
VAR_040695 commonName VAR_040695
VAR_040695 disease not phenotype-associated
VAR_040696 commonName VAR_040696
VAR_040696 disease not phenotype-associated
VAR_040697 commonName VAR_040697
VAR_040697 disease not phenotype-associated
VAR_040698 comment A metastatic melanoma sample
VAR_040698 commonName VAR_040698
VAR_040699 comment A gastric adenocarcinoma sample
VAR_040699 commonName VAR_040699
VAR_040700 commonName VAR_040700
VAR_040700 disease not phenotype-associated
VAR_040701 commonName VAR_040701
VAR_040701 disease not phenotype-associated
VAR_040702 comment A metastatic melanoma sample
VAR_040702 commonName VAR_040702
VAR_040703 commonName VAR_040703
VAR_040703 disease not phenotype-associated
VAR_040704 commonName VAR_040704
VAR_040704 disease not phenotype-associated
VAR_040705 comment A breast pleomorphic lobular carcinoma sample
VAR_040705 commonName VAR_040705
VAR_040706 commonName VAR_040706
VAR_040706 disease not phenotype-associated
VAR_040707 commonName VAR_040707
VAR_040707 disease not phenotype-associated
VAR_040708 commonName VAR_040708
VAR_040708 disease not phenotype-associated
VAR_040711 commonName VAR_040711
VAR_040711 disease not phenotype-associated
VAR_040712 comment A lung neuroendocrine carcinoma sample
VAR_040712 commonName VAR_040712
VAR_040716 commonName VAR_040716
VAR_040716 disease not phenotype-associated
VAR_040717 commonName VAR_040717
VAR_040717 disease not phenotype-associated
VAR_040718 commonName VAR_040718
VAR_040718 disease not phenotype-associated
VAR_040719 comment A lung squamous cell carcinoma sample
VAR_040719 commonName VAR_040719
VAR_040720 commonName VAR_040720
VAR_040720 disease not phenotype-associated
VAR_040721 commonName VAR_040721
VAR_040721 disease not phenotype-associated
VAR_040722 comment A lung adenocarcinoma sample
VAR_040722 commonName VAR_040722
VAR_040723 comment A metastatic melanoma sample
VAR_040723 commonName VAR_040723
VAR_040729 commonName VAR_040729
VAR_040729 disease not phenotype-associated
VAR_040730 commonName VAR_040730
VAR_040730 disease not phenotype-associated
VAR_040731 commonName VAR_040731
VAR_040731 disease not phenotype-associated
VAR_040732 commonName VAR_040732
VAR_040732 disease not phenotype-associated
VAR_040733 commonName VAR_040733
VAR_040733 disease not phenotype-associated
VAR_040734 commonName VAR_040734
VAR_040734 disease not phenotype-associated
VAR_040735 commonName VAR_040735
VAR_040735 disease not phenotype-associated
VAR_040736 commonName VAR_040736
VAR_040736 disease not phenotype-associated
VAR_040737 commonName VAR_040737
VAR_040737 disease not phenotype-associated
VAR_040738 commonName VAR_040738
VAR_040738 disease not phenotype-associated
VAR_040739 commonName VAR_040739
VAR_040739 disease not phenotype-associated
VAR_040740 commonName VAR_040740
VAR_040740 disease not phenotype-associated
VAR_040741 commonName VAR_040741
VAR_040741 disease not phenotype-associated
VAR_040742 comment A metastatic melanoma sample
VAR_040742 commonName VAR_040742
VAR_040743 commonName VAR_040743
VAR_040743 disease not phenotype-associated
VAR_040744 commonName VAR_040744
VAR_040744 disease not phenotype-associated
VAR_040746 commonName VAR_040746
VAR_040746 disease not phenotype-associated
VAR_040747 commonName VAR_040747
VAR_040747 disease not phenotype-associated
VAR_040748 commonName VAR_040748
VAR_040748 disease not phenotype-associated
VAR_040749 commonName VAR_040749
VAR_040749 disease not phenotype-associated
VAR_040750 commonName VAR_040750
VAR_040750 disease not phenotype-associated
VAR_040751 commonName VAR_040751
VAR_040751 disease not phenotype-associated
VAR_040752 commonName VAR_040752
VAR_040752 disease not phenotype-associated
VAR_040753 commonName VAR_040753
VAR_040753 disease not phenotype-associated
VAR_040754 commonName VAR_040754
VAR_040754 disease not phenotype-associated
VAR_040755 comment A glioblastoma multiforme sample
VAR_040755 commonName VAR_040755
VAR_040756 commonName VAR_040756
VAR_040757 commonName VAR_040757
VAR_040757 disease not phenotype-associated
VAR_040758 commonName VAR_040758
VAR_040758 disease not phenotype-associated
VAR_040759 commonName VAR_040759
VAR_040759 disease not phenotype-associated
VAR_040760 comment A gastric adenocarcinoma sample
VAR_040760 commonName VAR_040760
VAR_040761 comment An ovarian serous carcinoma sample
VAR_040761 commonName VAR_040761
VAR_040762 commonName VAR_040762
VAR_040762 disease not phenotype-associated
VAR_040763 commonName VAR_040763
VAR_040763 disease not phenotype-associated
VAR_040764 commonName VAR_040764
VAR_040764 disease not phenotype-associated
VAR_040765 commonName VAR_040765
VAR_040765 disease not phenotype-associated
VAR_040766 commonName VAR_040766
VAR_040766 disease not phenotype-associated
VAR_040767 comment A colorectal adenocarcinoma sample
VAR_040767 commonName VAR_040767
VAR_040768 comment A metastatic melanoma sample
VAR_040768 commonName VAR_040768
VAR_040769 comment An ovarian serous carcinoma sample
VAR_040769 commonName VAR_040769
VAR_040770 commonName VAR_040770
VAR_040770 disease not phenotype-associated
VAR_040771 commonName VAR_040771
VAR_040771 disease not phenotype-associated
VAR_040772 comment An ovarian mucinous carcinoma sample
VAR_040772 commonName VAR_040772
VAR_040773 commonName VAR_040773
VAR_040773 disease not phenotype-associated
VAR_040774 comment A breast mucinous carcinoma sample
VAR_040774 commonName VAR_040774
VAR_040775 commonName VAR_040775
VAR_040775 disease not phenotype-associated
VAR_040776 commonName VAR_040776
VAR_040776 disease not phenotype-associated
VAR_040777 commonName VAR_040777
VAR_040777 disease not phenotype-associated
VAR_040778 commonName VAR_040778
VAR_040778 disease not phenotype-associated
VAR_040779 commonName VAR_040779
VAR_040779 disease not phenotype-associated
VAR_040780 commonName VAR_040780
VAR_040780 disease not phenotype-associated
VAR_040781 commonName VAR_040781
VAR_040781 disease not phenotype-associated
VAR_040782 commonName VAR_040782
VAR_040782 disease not phenotype-associated
VAR_040783 commonName VAR_040783
VAR_040783 disease not phenotype-associated
VAR_040784 commonName VAR_040784
VAR_040784 disease not phenotype-associated
VAR_040785 commonName VAR_040785
VAR_040785 disease not phenotype-associated
VAR_040786 commonName VAR_040786
VAR_040786 disease not phenotype-associated
VAR_040792 commonName VAR_040792
VAR_040792 disease not phenotype-associated
VAR_040793 commonName VAR_040793
VAR_040793 disease not phenotype-associated
VAR_040794 commonName VAR_040794
VAR_040794 disease not phenotype-associated
VAR_040795 commonName VAR_040795
VAR_040795 disease not phenotype-associated
VAR_040796 commonName VAR_040796
VAR_040796 disease not phenotype-associated
VAR_040797 commonName VAR_040797
VAR_040797 disease not phenotype-associated
VAR_040799 commonName VAR_040799
VAR_040799 disease not phenotype-associated
VAR_040800 commonName VAR_040800
VAR_040800 disease not phenotype-associated
VAR_040801 commonName VAR_040801
VAR_040801 disease not phenotype-associated
VAR_040802 commonName VAR_040802
VAR_040802 disease not phenotype-associated
VAR_040803 commonName VAR_040803
VAR_040803 disease not phenotype-associated
VAR_040804 commonName VAR_040804
VAR_040804 disease not phenotype-associated
VAR_040805 commonName VAR_040805
VAR_040805 disease not phenotype-associated
VAR_040806 commonName VAR_040806
VAR_040806 disease not phenotype-associated
VAR_040807 commonName VAR_040807
VAR_040808 commonName VAR_040808
VAR_040808 disease not phenotype-associated
VAR_040809 commonName VAR_040809
VAR_040809 disease not phenotype-associated
VAR_040810 commonName VAR_040810
VAR_040810 disease not phenotype-associated
VAR_040811 commonName VAR_040811
VAR_040811 disease not phenotype-associated
VAR_040812 commonName VAR_040812
VAR_040812 disease not phenotype-associated
VAR_040813 commonName VAR_040813
VAR_040813 disease not phenotype-associated
VAR_040814 commonName VAR_040814
VAR_040814 disease not phenotype-associated
VAR_040815 comment A lung adenocarcinoma sample
VAR_040815 commonName VAR_040815
VAR_040816 commonName VAR_040816
VAR_040816 disease not phenotype-associated
VAR_040817 commonName VAR_040817
VAR_040817 disease not phenotype-associated
VAR_040818 comment A lung squamous cell carcinoma sample
VAR_040818 commonName VAR_040818
VAR_040819 comment A colorectal adenocarcinoma sample
VAR_040819 commonName VAR_040819
VAR_040820 comment An ovarian serous carcinoma sample
VAR_040820 commonName VAR_040820
VAR_040821 comment A metastatic melanoma sample
VAR_040821 commonName VAR_040821
VAR_040822 comment A colorectal adenocarcinoma sample
VAR_040822 commonName VAR_040822
VAR_040823 commonName VAR_040823
VAR_040823 disease not phenotype-associated
VAR_040824 commonName VAR_040824
VAR_040824 disease not phenotype-associated
VAR_040825 commonName VAR_040825
VAR_040825 disease not phenotype-associated
VAR_040826 commonName VAR_040826
VAR_040826 disease not phenotype-associated
VAR_040827 comment A colorectal adenocarcinoma sample
VAR_040827 commonName VAR_040827
VAR_040828 comment A colorectal adenocarcinoma sample
VAR_040828 commonName VAR_040828
VAR_040829 commonName VAR_040829
VAR_040829 disease not phenotype-associated
VAR_040834 comment A breast infiltrating ductal carcinoma sample
VAR_040834 commonName VAR_040834
VAR_040835 commonName VAR_040835
VAR_040835 disease not phenotype-associated
VAR_040836 commonName VAR_040836
VAR_040836 disease not phenotype-associated
VAR_040837 comment A colorectal adenocarcinoma sample
VAR_040837 commonName VAR_040837
VAR_040838 comment A lung large cell carcinoma sample
VAR_040838 commonName VAR_040838
VAR_040839 commonName VAR_040839
VAR_040839 disease not phenotype-associated
VAR_040840 commonName VAR_040840
VAR_040840 disease not phenotype-associated
VAR_040841 comment A glioblastoma multiforme sample
VAR_040841 commonName VAR_040841
VAR_040842 commonName VAR_040842
VAR_040842 disease not phenotype-associated
VAR_040843 commonName VAR_040843
VAR_040843 disease not phenotype-associated
VAR_040844 commonName VAR_040844
VAR_040844 disease not phenotype-associated
VAR_040845 comment A gastric adenocarcinoma sample
VAR_040845 commonName VAR_040845
VAR_040846 commonName VAR_040846
VAR_040846 disease not phenotype-associated
VAR_040847 commonName VAR_040847
VAR_040847 disease not phenotype-associated
VAR_040848 commonName VAR_040848
VAR_040848 disease not phenotype-associated
VAR_040849 commonName VAR_040849
VAR_040849 disease not phenotype-associated
VAR_040850 commonName VAR_040850
VAR_040850 disease not phenotype-associated
VAR_040851 commonName VAR_040851
VAR_040851 disease not phenotype-associated
VAR_040852 commonName VAR_040852
VAR_040852 disease not phenotype-associated
VAR_040853 commonName VAR_040853
VAR_040853 disease not phenotype-associated
VAR_040854 commonName VAR_040854
VAR_040854 disease not phenotype-associated
VAR_040855 commonName VAR_040855
VAR_040855 disease not phenotype-associated
VAR_040856 commonName VAR_040856
VAR_040856 disease not phenotype-associated
VAR_040857 commonName VAR_040857
VAR_040857 disease not phenotype-associated
VAR_040858 commonName VAR_040858
VAR_040858 disease not phenotype-associated
VAR_040859 comment An ovarian mucinous carcinoma sample
VAR_040859 commonName VAR_040859
VAR_040860 comment A lung neuroendocrine carcinoma sample
VAR_040860 commonName VAR_040860
VAR_040861 commonName VAR_040861
VAR_040861 disease not phenotype-associated
VAR_040862 commonName VAR_040862
VAR_040862 disease not phenotype-associated
VAR_040863 commonName VAR_040863
VAR_040863 disease not phenotype-associated
VAR_040864 comment A breast infiltrating ductal carcinoma sample
VAR_040864 commonName VAR_040864
VAR_040865 commonName VAR_040865
VAR_040865 disease not phenotype-associated
VAR_040866 comment A breast infiltrating ductal carcinoma sample
VAR_040866 commonName VAR_040866
VAR_040867 commonName VAR_040867
VAR_040867 disease not phenotype-associated
VAR_040868 comment A lung squamous cell carcinoma sample
VAR_040868 commonName VAR_040868
VAR_040869 commonName VAR_040869
VAR_040869 disease not phenotype-associated
VAR_040870 commonName VAR_040870
VAR_040870 disease not phenotype-associated
VAR_040871 commonName VAR_040871
VAR_040871 disease not phenotype-associated
VAR_040872 commonName VAR_040872
VAR_040872 disease not phenotype-associated
VAR_040873 commonName VAR_040873
VAR_040873 disease not phenotype-associated
VAR_040874 commonName VAR_040874
VAR_040874 disease not phenotype-associated
VAR_040875 comment An ovarian mucinous carcinoma sample
VAR_040875 commonName VAR_040875
VAR_040876 commonName VAR_040876
VAR_040876 disease not phenotype-associated
VAR_040877 comment An ovarian serous carcinoma sample
VAR_040877 commonName VAR_040877
VAR_040878 commonName VAR_040878
VAR_040878 disease not phenotype-associated
VAR_040879 commonName VAR_040879
VAR_040879 disease not phenotype-associated
VAR_040886 commonName VAR_040886
VAR_040886 disease not phenotype-associated
VAR_040887 commonName VAR_040887
VAR_040887 disease not phenotype-associated
VAR_040888 commonName VAR_040888
VAR_040888 disease not phenotype-associated
VAR_040889 commonName VAR_040889
VAR_040889 disease not phenotype-associated
VAR_040890 commonName VAR_040890
VAR_040890 disease not phenotype-associated
VAR_040891 commonName VAR_040891
VAR_040891 disease not phenotype-associated
VAR_040892 commonName VAR_040892
VAR_040892 disease not phenotype-associated
VAR_040893 commonName VAR_040893
VAR_040893 disease not phenotype-associated
VAR_040894 commonName VAR_040894
VAR_040894 disease not phenotype-associated
VAR_040895 commonName VAR_040895
VAR_040895 disease not phenotype-associated
VAR_040896 commonName VAR_040896
VAR_040896 disease not phenotype-associated
VAR_040897 commonName VAR_040897
VAR_040897 disease not phenotype-associated
VAR_040898 commonName VAR_040898
VAR_040898 disease not phenotype-associated
VAR_040899 commonName VAR_040899
VAR_040899 disease not phenotype-associated
VAR_040900 commonName VAR_040900
VAR_040900 disease not phenotype-associated
VAR_040901 comment A lung large cell carcinoma sample
VAR_040901 commonName VAR_040901
VAR_040902 commonName VAR_040902
VAR_040902 disease not phenotype-associated
VAR_040903 comment A lung adenocarcinoma sample
VAR_040903 commonName VAR_040903
VAR_040904 commonName VAR_040904
VAR_040904 disease not phenotype-associated
VAR_040905 commonName VAR_040905
VAR_040905 disease not phenotype-associated
VAR_040906 commonName VAR_040906
VAR_040906 disease not phenotype-associated
VAR_040908 commonName VAR_040908
VAR_040908 disease not phenotype-associated
VAR_040909 commonName VAR_040909
VAR_040909 disease not phenotype-associated
VAR_040910 commonName VAR_040910
VAR_040910 disease not phenotype-associated
VAR_040911 commonName VAR_040911
VAR_040911 disease not phenotype-associated
VAR_040912 commonName VAR_040912
VAR_040912 disease not phenotype-associated
VAR_040913 commonName VAR_040913
VAR_040913 disease not phenotype-associated
VAR_040914 commonName VAR_040914
VAR_040914 disease not phenotype-associated
VAR_040915 commonName VAR_040915
VAR_040915 disease not phenotype-associated
VAR_040916 commonName VAR_040916
VAR_040916 disease not phenotype-associated
VAR_040917 commonName VAR_040917
VAR_040917 disease not phenotype-associated
VAR_040918 commonName VAR_040918
VAR_040918 disease not phenotype-associated
VAR_040919 commonName VAR_040919
VAR_040919 disease not phenotype-associated
VAR_040920 commonName VAR_040920
VAR_040920 disease not phenotype-associated
VAR_040921 comment A colorectal adenocarcinoma sample
VAR_040921 commonName VAR_040921
VAR_040922 commonName VAR_040922
VAR_040922 disease not phenotype-associated
VAR_040923 commonName VAR_040923
VAR_040923 disease not phenotype-associated
VAR_040924 commonName VAR_040924
VAR_040924 disease not phenotype-associated
VAR_040925 comment An ovarian serous carcinoma sample
VAR_040925 commonName VAR_040925
VAR_040926 commonName VAR_040926
VAR_040926 disease not phenotype-associated
VAR_040927 comment A lung neuroendocrine carcinoma sample
VAR_040927 commonName VAR_040927
VAR_040935 comment A colorectal adenocarcinoma sample
VAR_040935 commonName VAR_040935
VAR_040936 commonName VAR_040936
VAR_040936 disease not phenotype-associated
VAR_040937 commonName VAR_040937
VAR_040937 disease not phenotype-associated
VAR_040938 commonName VAR_040938
VAR_040938 disease not phenotype-associated
VAR_040939 commonName VAR_040939
VAR_040939 disease not phenotype-associated
VAR_040945 commonName VAR_040945
VAR_040945 disease not phenotype-associated
VAR_040946 commonName VAR_040946
VAR_040946 disease not phenotype-associated
VAR_040947 commonName VAR_040947
VAR_040947 disease not phenotype-associated
VAR_040948 commonName VAR_040948
VAR_040948 disease not phenotype-associated
VAR_040949 comment A lung neuroendocrine carcinoma sample
VAR_040949 commonName VAR_040949
VAR_040950 comment A lung large cell carcinoma sample
VAR_040950 commonName VAR_040950
VAR_040951 commonName VAR_040951
VAR_040951 disease not phenotype-associated
VAR_040952 comment A breast infiltrating ductal carcinoma sample
VAR_040952 commonName VAR_040952
VAR_040953 commonName VAR_040953
VAR_040953 disease not phenotype-associated
VAR_040954 commonName VAR_040954
VAR_040954 disease not phenotype-associated
VAR_040955 commonName VAR_040955
VAR_040955 disease not phenotype-associated
VAR_040956 comment A colorectal adenocarcinoma sample
VAR_040956 commonName VAR_040956
VAR_040957 commonName VAR_040957
VAR_040957 disease not phenotype-associated
VAR_040958 commonName VAR_040958
VAR_040958 disease not phenotype-associated
VAR_040959 commonName VAR_040959
VAR_040959 disease not phenotype-associated
VAR_040960 commonName VAR_040960
VAR_040960 disease not phenotype-associated
VAR_040961 commonName VAR_040961
VAR_040961 disease not phenotype-associated
VAR_040962 commonName VAR_040962
VAR_040962 disease not phenotype-associated
VAR_040963 commonName VAR_040963
VAR_040963 disease not phenotype-associated
VAR_040964 commonName VAR_040964
VAR_040964 disease not phenotype-associated
VAR_040965 commonName VAR_040965
VAR_040965 disease not phenotype-associated
VAR_040966 comment An ovarian Endometrioid carcinoma sample
VAR_040966 commonName VAR_040966
VAR_040967 commonName VAR_040967
VAR_040967 disease not phenotype-associated
VAR_040968 comment A breast pleomorphic lobular carcinoma sample
VAR_040968 commonName VAR_040968
VAR_040969 comment A metastatic melanoma sample
VAR_040969 commonName VAR_040969
VAR_040970 commonName VAR_040970
VAR_040970 disease not phenotype-associated
VAR_040971 commonName VAR_040971
VAR_040971 disease not phenotype-associated
VAR_040972 commonName VAR_040972
VAR_040972 disease not phenotype-associated
VAR_040973 commonName VAR_040973
VAR_040973 disease not phenotype-associated
VAR_040974 commonName VAR_040974
VAR_040974 disease not phenotype-associated
VAR_040975 commonName VAR_040975
VAR_040975 disease not phenotype-associated
VAR_040976 commonName VAR_040976
VAR_040976 disease not phenotype-associated
VAR_040977 comment A lung small cell carcinoma sample
VAR_040977 commonName VAR_040977
VAR_040978 commonName VAR_040978
VAR_040978 disease not phenotype-associated
VAR_040979 commonName VAR_040979
VAR_040979 disease not phenotype-associated
VAR_040980 comment A colorectal adenocarcinoma sample
VAR_040980 commonName VAR_040980
VAR_040981 commonName VAR_040981
VAR_040981 disease not phenotype-associated
VAR_040982 comment A lung adenocarcinoma sample
VAR_040982 commonName VAR_040982
VAR_040983 commonName VAR_040983
VAR_040983 disease not phenotype-associated
VAR_040984 comment A metastatic melanoma sample
VAR_040984 commonName VAR_040984
VAR_040986 comment A metastatic melanoma sample
VAR_040986 commonName VAR_040986
VAR_040987 commonName VAR_040987
VAR_040987 disease not phenotype-associated
VAR_040988 commonName VAR_040988
VAR_040988 disease not phenotype-associated
VAR_040989 commonName VAR_040989
VAR_040989 disease not phenotype-associated
VAR_040990 commonName VAR_040990
VAR_040990 disease not phenotype-associated
VAR_040991 commonName VAR_040991
VAR_040991 disease not phenotype-associated
VAR_040992 commonName VAR_040992
VAR_040992 disease not phenotype-associated
VAR_040994 comment A colorectal adenocarcinoma sample
VAR_040994 commonName VAR_040994
VAR_040996 commonName VAR_040996
VAR_040996 disease not phenotype-associated
VAR_040997 commonName VAR_040997
VAR_040997 disease not phenotype-associated
VAR_040998 commonName VAR_040998
VAR_040998 disease not phenotype-associated
VAR_040999 commonName VAR_040999
VAR_040999 disease not phenotype-associated
VAR_041000 commonName VAR_041000
VAR_041000 disease not phenotype-associated
VAR_041001 commonName VAR_041001
VAR_041001 disease not phenotype-associated
VAR_041002 commonName VAR_041002
VAR_041002 disease not phenotype-associated
VAR_041003 commonName VAR_041003
VAR_041003 disease not phenotype-associated
VAR_041004 comment A colorectal adenocarcinoma sample
VAR_041004 commonName VAR_041004
VAR_041005 commonName VAR_041005
VAR_041005 disease not phenotype-associated
VAR_041006 commonName VAR_041006
VAR_041006 disease not phenotype-associated
VAR_041007 commonName VAR_041007
VAR_041007 disease not phenotype-associated
VAR_041008 commonName VAR_041008
VAR_041008 disease not phenotype-associated
VAR_041009 commonName VAR_041009
VAR_041009 disease not phenotype-associated
VAR_041010 commonName VAR_041010
VAR_041010 disease not phenotype-associated
VAR_041011 commonName VAR_041011
VAR_041011 disease not phenotype-associated
VAR_041012 commonName VAR_041012
VAR_041012 disease not phenotype-associated
VAR_041013 comment A glioblastoma multiforme sample
VAR_041013 commonName VAR_041013
VAR_041014 commonName VAR_041014
VAR_041014 disease not phenotype-associated
VAR_041015 commonName VAR_041015
VAR_041015 disease not phenotype-associated
VAR_041016 commonName VAR_041016
VAR_041016 disease not phenotype-associated
VAR_041017 commonName VAR_041017
VAR_041017 disease not phenotype-associated
VAR_041018 comment A lung squamous cell carcinoma sample
VAR_041018 commonName VAR_041018
VAR_041019 commonName VAR_041019
VAR_041019 disease not phenotype-associated
VAR_041020 commonName VAR_041020
VAR_041020 disease not phenotype-associated
VAR_041021 commonName VAR_041021
VAR_041021 disease not phenotype-associated
VAR_041022 commonName VAR_041022
VAR_041022 disease not phenotype-associated
VAR_041023 comment An ovarian Endometrioid carcinoma sample
VAR_041023 commonName VAR_041023
VAR_041024 comment A lung adenocarcinoma sample
VAR_041024 commonName VAR_041024
VAR_041025 commonName VAR_041025
VAR_041025 disease not phenotype-associated
VAR_041026 commonName VAR_041026
VAR_041026 disease not phenotype-associated
VAR_041027 commonName VAR_041027
VAR_041027 disease not phenotype-associated
VAR_041028 commonName VAR_041028
VAR_041028 disease not phenotype-associated
VAR_041029 commonName VAR_041029
VAR_041029 disease not phenotype-associated
VAR_041030 commonName VAR_041030
VAR_041030 disease not phenotype-associated
VAR_041031 commonName VAR_041031
VAR_041031 disease not phenotype-associated
VAR_041032 commonName VAR_041032
VAR_041032 disease not phenotype-associated
VAR_041033 commonName VAR_041033
VAR_041033 disease not phenotype-associated
VAR_041034 commonName VAR_041034
VAR_041034 disease not phenotype-associated
VAR_041035 commonName VAR_041035
VAR_041035 disease not phenotype-associated
VAR_041036 commonName VAR_041036
VAR_041036 disease not phenotype-associated
VAR_041037 comment An ovarian serous carcinoma sample
VAR_041037 commonName VAR_041037
VAR_041038 comment A lung adenocarcinoma sample
VAR_041038 commonName VAR_041038
VAR_041039 comment A colorectal adenocarcinoma sample
VAR_041039 commonName VAR_041039
VAR_041040 comment A colorectal adenocarcinoma sample
VAR_041040 commonName VAR_041040
VAR_041041 comment A colorectal adenocarcinoma sample
VAR_041041 commonName VAR_041041
VAR_041042 commonName VAR_041042
VAR_041042 disease not phenotype-associated
VAR_041043 commonName VAR_041043
VAR_041043 disease not phenotype-associated
VAR_041044 commonName VAR_041044
VAR_041044 disease not phenotype-associated
VAR_041045 commonName VAR_041045
VAR_041045 disease not phenotype-associated
VAR_041046 commonName VAR_041046
VAR_041046 disease not phenotype-associated
VAR_041047 commonName VAR_041047
VAR_041047 disease not phenotype-associated
VAR_041048 commonName VAR_041048
VAR_041048 disease not phenotype-associated
VAR_041055 commonName VAR_041055
VAR_041055 disease not phenotype-associated
VAR_041056 commonName VAR_041056
VAR_041056 disease not phenotype-associated
VAR_041057 commonName VAR_041057
VAR_041057 disease not phenotype-associated
VAR_041058 comment A lung neuroendocrine carcinoma sample
VAR_041058 commonName VAR_041058
VAR_041059 commonName VAR_041059
VAR_041059 disease not phenotype-associated
VAR_041060 commonName VAR_041060
VAR_041060 disease not phenotype-associated
VAR_041061 commonName VAR_041061
VAR_041061 disease not phenotype-associated
VAR_041062 commonName VAR_041062
VAR_041062 disease not phenotype-associated
VAR_041063 commonName VAR_041063
VAR_041063 disease not phenotype-associated
VAR_041064 comment A metastatic melanoma sample
VAR_041064 commonName VAR_041064
VAR_041065 commonName VAR_041065
VAR_041065 disease not phenotype-associated
VAR_041066 commonName VAR_041066
VAR_041066 disease not phenotype-associated
VAR_041067 commonName VAR_041067
VAR_041067 disease not phenotype-associated
VAR_041068 comment An ovarian mucinous carcinoma sample
VAR_041068 commonName VAR_041068
VAR_041069 commonName VAR_041069
VAR_041069 disease not phenotype-associated
VAR_041070 commonName VAR_041070
VAR_041070 disease not phenotype-associated
VAR_041071 commonName VAR_041071
VAR_041071 disease not phenotype-associated
VAR_041072 commonName VAR_041072
VAR_041072 disease not phenotype-associated
VAR_041073 commonName VAR_041073
VAR_041073 disease not phenotype-associated
VAR_041074 comment A lung adenocarcinoma sample
VAR_041074 commonName VAR_041074
VAR_041075 commonName VAR_041075
VAR_041075 disease not phenotype-associated
VAR_041076 commonName VAR_041076
VAR_041076 disease not phenotype-associated
VAR_041077 commonName VAR_041077
VAR_041077 disease not phenotype-associated
VAR_041078 commonName VAR_041078
VAR_041078 disease not phenotype-associated
VAR_041079 commonName VAR_041079
VAR_041079 disease not phenotype-associated
VAR_041080 comment A lung adenocarcinoma sample
VAR_041080 commonName VAR_041080
VAR_041081 commonName VAR_041081
VAR_041081 disease not phenotype-associated
VAR_041082 comment An ovarian serous carcinoma sample
VAR_041082 commonName VAR_041082
VAR_041083 commonName VAR_041083
VAR_041083 disease not phenotype-associated
VAR_041084 commonName VAR_041084
VAR_041084 disease not phenotype-associated
VAR_041085 commonName VAR_041085
VAR_041085 disease not phenotype-associated
VAR_041086 commonName VAR_041086
VAR_041086 disease not phenotype-associated
VAR_041087 commonName VAR_041087
VAR_041087 disease not phenotype-associated
VAR_041088 commonName VAR_041088
VAR_041088 disease not phenotype-associated
VAR_041089 comment A glioblastoma multiforme sample
VAR_041089 commonName VAR_041089
VAR_041090 comment A metastatic melanoma sample
VAR_041090 commonName VAR_041090
VAR_041091 commonName VAR_041091
VAR_041091 disease not phenotype-associated
VAR_041092 commonName VAR_041092
VAR_041092 disease not phenotype-associated
VAR_041093 commonName VAR_041093
VAR_041093 disease not phenotype-associated
VAR_041094 commonName VAR_041094
VAR_041094 disease not phenotype-associated
VAR_041095 commonName VAR_041095
VAR_041095 disease not phenotype-associated
VAR_041096 commonName VAR_041096
VAR_041096 disease not phenotype-associated
VAR_041097 commonName VAR_041097
VAR_041097 disease not phenotype-associated
VAR_041101 commonName VAR_041101
VAR_041101 disease not phenotype-associated
VAR_041102 commonName VAR_041102
VAR_041102 disease not phenotype-associated
VAR_041103 commonName VAR_041103
VAR_041103 disease not phenotype-associated
VAR_041104 commonName VAR_041104
VAR_041104 disease not phenotype-associated
VAR_041105 commonName VAR_041105
VAR_041105 disease not phenotype-associated
VAR_041106 comment A gastric adenocarcinoma sample
VAR_041106 commonName VAR_041106
VAR_041107 commonName VAR_041107
VAR_041107 disease not phenotype-associated
VAR_041108 commonName VAR_041108
VAR_041108 disease not phenotype-associated
VAR_041109 commonName VAR_041109
VAR_041109 disease not phenotype-associated
VAR_041110 comment An ovarian mucinous carcinoma sample
VAR_041110 commonName VAR_041110
VAR_041111 commonName VAR_041111
VAR_041111 disease not phenotype-associated
VAR_041112 comment A gastric adenocarcinoma sample
VAR_041112 commonName VAR_041112
VAR_041113 commonName VAR_041113
VAR_041113 disease not phenotype-associated
VAR_041114 commonName VAR_041114
VAR_041114 disease not phenotype-associated
VAR_041115 comment A glioblastoma multiforme sample
VAR_041115 commonName VAR_041115
VAR_041116 commonName VAR_041116
VAR_041116 disease not phenotype-associated
VAR_041117 commonName VAR_041117
VAR_041117 disease not phenotype-associated
VAR_041118 commonName VAR_041118
VAR_041118 disease not phenotype-associated
VAR_041119 commonName VAR_041119
VAR_041119 disease not phenotype-associated
VAR_041120 commonName VAR_041120
VAR_041120 disease not phenotype-associated
VAR_041121 commonName VAR_041121
VAR_041121 disease not phenotype-associated
VAR_041122 comment An ovarian clear cell carcinoma sample
VAR_041122 commonName VAR_041122
VAR_041123 commonName VAR_041123
VAR_041123 disease not phenotype-associated
VAR_041124 commonName VAR_041124
VAR_041124 disease not phenotype-associated
VAR_041127 commonName VAR_041127
VAR_041127 disease not phenotype-associated
VAR_041128 comment A colorectal adenocarcinoma sample
VAR_041128 commonName VAR_041128
VAR_041129 comment A metastatic melanoma sample
VAR_041129 commonName VAR_041129
VAR_041130 commonName VAR_041130
VAR_041130 disease not phenotype-associated
VAR_041131 commonName VAR_041131
VAR_041131 disease not phenotype-associated
VAR_041132 commonName VAR_041132
VAR_041132 disease not phenotype-associated
VAR_041133 commonName VAR_041133
VAR_041133 disease not phenotype-associated
VAR_041134 commonName VAR_041134
VAR_041134 disease not phenotype-associated
VAR_041135 commonName VAR_041135
VAR_041135 disease not phenotype-associated
VAR_041136 commonName VAR_041136
VAR_041136 disease not phenotype-associated
VAR_041137 commonName VAR_041137
VAR_041137 disease not phenotype-associated
VAR_041138 commonName VAR_041138
VAR_041138 disease not phenotype-associated
VAR_041139 comment A metastatic melanoma sample
VAR_041139 commonName VAR_041139
VAR_041140 commonName VAR_041140
VAR_041140 disease not phenotype-associated
VAR_041141 commonName VAR_041141
VAR_041141 disease not phenotype-associated
VAR_041142 commonName VAR_041142
VAR_041142 disease not phenotype-associated
VAR_041143 commonName VAR_041143
VAR_041143 disease not phenotype-associated
VAR_041144 commonName VAR_041144
VAR_041144 disease not phenotype-associated
VAR_041145 commonName VAR_041145
VAR_041145 disease not phenotype-associated
VAR_041146 commonName VAR_041146
VAR_041146 disease not phenotype-associated
VAR_041147 commonName VAR_041147
VAR_041147 disease not phenotype-associated
VAR_041148 commonName VAR_041148
VAR_041148 disease not phenotype-associated
VAR_041149 commonName VAR_041149
VAR_041149 disease not phenotype-associated
VAR_041150 commonName VAR_041150
VAR_041150 disease not phenotype-associated
VAR_041151 commonName VAR_041151
VAR_041151 disease not phenotype-associated
VAR_041152 commonName VAR_041152
VAR_041152 disease not phenotype-associated
VAR_041153 commonName VAR_041153
VAR_041153 disease not phenotype-associated
VAR_041154 commonName VAR_041154
VAR_041154 disease not phenotype-associated
VAR_041155 commonName VAR_041155
VAR_041155 disease not phenotype-associated
VAR_041156 commonName VAR_041156
VAR_041156 disease not phenotype-associated
VAR_041157 commonName VAR_041157
VAR_041157 disease not phenotype-associated
VAR_041158 comment A lung neuroendocrine carcinoma sample
VAR_041158 commonName VAR_041158
VAR_041159 commonName VAR_041159
VAR_041159 disease not phenotype-associated
VAR_041160 comment A lung small cell carcinoma sample
VAR_041160 commonName VAR_041160
VAR_041163 commonName VAR_041163
VAR_041163 disease not phenotype-associated
VAR_041164 comment A metastatic melanoma sample
VAR_041164 commonName VAR_041164
VAR_041165 comment A lung neuroendocrine carcinoma sample
VAR_041165 commonName VAR_041165
VAR_041166 comment A metastatic melanoma sample
VAR_041166 commonName VAR_041166
VAR_041167 commonName VAR_041167
VAR_041167 disease not phenotype-associated
VAR_041168 commonName VAR_041168
VAR_041168 disease not phenotype-associated
VAR_041169 commonName VAR_041169
VAR_041169 disease not phenotype-associated
VAR_041172 commonName VAR_041172
VAR_041172 disease not phenotype-associated
VAR_041173 comment A lung large cell carcinoma sample
VAR_041173 commonName VAR_041173
VAR_041177 commonName VAR_041177
VAR_041177 disease not phenotype-associated
VAR_041178 commonName VAR_041178
VAR_041178 disease not phenotype-associated
VAR_041179 commonName VAR_041179
VAR_041179 disease not phenotype-associated
VAR_041180 commonName VAR_041180
VAR_041180 disease not phenotype-associated
VAR_041181 commonName VAR_041181
VAR_041181 disease not phenotype-associated
VAR_041182 commonName VAR_041182
VAR_041182 disease not phenotype-associated
VAR_041183 commonName VAR_041183
VAR_041183 disease not phenotype-associated
VAR_041184 commonName VAR_041184
VAR_041184 disease not phenotype-associated
VAR_041185 comment A breast pleomorphic lobular carcinoma sample
VAR_041185 commonName VAR_041185
VAR_041186 commonName VAR_041186
VAR_041186 disease not phenotype-associated
VAR_041187 comment An ovarian papillary serous adenocarcinoma sample
VAR_041187 commonName VAR_041187
VAR_041188 commonName VAR_041188
VAR_041188 disease not phenotype-associated
VAR_041189 commonName VAR_041189
VAR_041189 disease not phenotype-associated
VAR_041190 commonName VAR_041190
VAR_041190 disease not phenotype-associated
VAR_041191 commonName VAR_041191
VAR_041191 disease not phenotype-associated
VAR_041192 commonName VAR_041192
VAR_041192 disease not phenotype-associated
VAR_041193 comment An ovarian serous carcinoma sample
VAR_041193 commonName VAR_041193
VAR_041194 commonName VAR_041194
VAR_041195 commonName VAR_041195
VAR_041195 disease not phenotype-associated
VAR_041196 comment A metastatic melanoma sample
VAR_041196 commonName VAR_041196
VAR_041197 commonName VAR_041197
VAR_041197 disease not phenotype-associated
VAR_041198 commonName VAR_041198
VAR_041198 disease not phenotype-associated
VAR_041199 commonName VAR_041199
VAR_041200 commonName VAR_041200
VAR_041200 disease not phenotype-associated
VAR_041201 comment A colorectal adenocarcinoma sample
VAR_041201 commonName VAR_041201
VAR_041202 comment A colorectal adenocarcinoma sample
VAR_041202 commonName VAR_041202
VAR_041203 commonName VAR_041203
VAR_041203 disease not phenotype-associated
VAR_041204 commonName VAR_041204
VAR_041204 disease not phenotype-associated
VAR_041205 comment A lung adenocarcinoma sample
VAR_041205 commonName VAR_041205
VAR_041206 comment A lung small cell carcinoma sample
VAR_041206 commonName VAR_041206
VAR_041207 commonName VAR_041207
VAR_041207 disease not phenotype-associated
VAR_041208 commonName VAR_041208
VAR_041208 disease not phenotype-associated
VAR_041209 commonName VAR_041209
VAR_041209 disease not phenotype-associated
VAR_041210 comment A breast pleomorphic lobular carcinoma sample
VAR_041210 commonName VAR_041210
VAR_041211 comment A colorectal adenocarcinoma sample
VAR_041211 commonName VAR_041211
VAR_041212 commonName VAR_041212
VAR_041212 disease not phenotype-associated
VAR_041214 comment A breast infiltrating ductal carcinoma sample
VAR_041214 commonName VAR_041214
VAR_041215 commonName VAR_041215
VAR_041215 disease not phenotype-associated
VAR_041216 commonName VAR_041216
VAR_041216 disease not phenotype-associated
VAR_041217 commonName VAR_041217
VAR_041217 disease not phenotype-associated
VAR_041218 commonName VAR_041218
VAR_041218 disease not phenotype-associated
VAR_041219 commonName VAR_041219
VAR_041219 disease not phenotype-associated
VAR_041220 commonName VAR_041220
VAR_041220 disease not phenotype-associated
VAR_041221 comment A gastric adenocarcinoma sample
VAR_041221 commonName VAR_041221
VAR_041222 commonName VAR_041222
VAR_041222 disease not phenotype-associated
VAR_041223 commonName VAR_041223
VAR_041223 disease not phenotype-associated
VAR_041224 commonName VAR_041224
VAR_041224 disease not phenotype-associated
VAR_041225 commonName VAR_041225
VAR_041225 disease not phenotype-associated
VAR_041226 comment A colorectal adenocarcinoma sample
VAR_041226 commonName VAR_041226
VAR_041227 commonName VAR_041227
VAR_041227 disease not phenotype-associated
VAR_041228 commonName VAR_041228
VAR_041228 disease not phenotype-associated
VAR_041229 commonName VAR_041229
VAR_041229 disease not phenotype-associated
VAR_041230 comment A head & Neck squamous cell carcinoma sample
VAR_041230 commonName VAR_041230
VAR_041231 commonName VAR_041231
VAR_041231 disease not phenotype-associated
VAR_041232 commonName VAR_041232
VAR_041232 disease not phenotype-associated
VAR_041233 commonName VAR_041233
VAR_041233 disease not phenotype-associated
VAR_041234 commonName VAR_041234
VAR_041234 disease not phenotype-associated
VAR_041235 commonName VAR_041235
VAR_041235 disease not phenotype-associated
VAR_041236 commonName VAR_041236
VAR_041236 disease not phenotype-associated
VAR_041237 commonName VAR_041237
VAR_041237 disease not phenotype-associated
VAR_041238 commonName VAR_041238
VAR_041238 disease not phenotype-associated
VAR_041239 commonName VAR_041239
VAR_041239 disease not phenotype-associated
VAR_041240 commonName VAR_041240
VAR_041240 disease not phenotype-associated
VAR_041241 commonName VAR_041241
VAR_041241 disease not phenotype-associated
VAR_041242 commonName VAR_041242
VAR_041242 disease not phenotype-associated
VAR_041243 commonName VAR_041243
VAR_041243 disease not phenotype-associated
VAR_041244 commonName VAR_041244
VAR_041244 disease not phenotype-associated
VAR_041245 commonName VAR_041245
VAR_041245 disease not phenotype-associated
VAR_041246 commonName VAR_041246
VAR_041246 disease not phenotype-associated
VAR_041247 commonName VAR_041247
VAR_041247 disease not phenotype-associated
VAR_041248 commonName VAR_041248
VAR_041248 disease not phenotype-associated
VAR_041249 commonName VAR_041249
VAR_041249 disease not phenotype-associated
VAR_041250 commonName VAR_041250
VAR_041250 disease not phenotype-associated
VAR_041252 commonName VAR_041252
VAR_041252 disease not phenotype-associated
VAR_041253 commonName VAR_041253
VAR_041253 disease not phenotype-associated
VAR_041254 commonName VAR_041254
VAR_041254 disease not phenotype-associated
VAR_041255 commonName VAR_041255
VAR_041255 disease not phenotype-associated
VAR_041256 commonName VAR_041256
VAR_041256 disease not phenotype-associated
VAR_041257 comment A lung large cell carcinoma sample
VAR_041257 commonName VAR_041257
VAR_041258 comment A metastatic melanoma sample
VAR_041258 commonName VAR_041258
VAR_041259 commonName VAR_041259
VAR_041259 disease not phenotype-associated
VAR_041260 commonName VAR_041260
VAR_041260 disease not phenotype-associated
VAR_041261 commonName VAR_041261
VAR_041261 disease not phenotype-associated
VAR_041262 commonName VAR_041262
VAR_041262 disease not phenotype-associated
VAR_041263 commonName VAR_041263
VAR_041263 disease not phenotype-associated
VAR_041264 commonName VAR_041264
VAR_041264 disease not phenotype-associated
VAR_041265 commonName VAR_041265
VAR_041265 disease not phenotype-associated
VAR_041266 comment A lung small cell carcinoma sample
VAR_041266 commonName VAR_041266
VAR_041267 commonName VAR_041267
VAR_041267 disease not phenotype-associated
VAR_041268 commonName VAR_041268
VAR_041268 disease not phenotype-associated
VAR_041269 commonName VAR_041269
VAR_041269 disease not phenotype-associated
VAR_041270 commonName VAR_041270
VAR_041270 disease not phenotype-associated
VAR_041272 commonName VAR_041272
VAR_041272 disease not phenotype-associated
VAR_041273 commonName VAR_041273
VAR_041273 disease not phenotype-associated
VAR_041274 comment An ovarian mucinous carcinoma sample
VAR_041274 commonName VAR_041274
VAR_041275 commonName VAR_041275
VAR_041275 disease not phenotype-associated
VAR_041276 commonName VAR_041276
VAR_041276 disease not phenotype-associated
VAR_041277 commonName VAR_041277
VAR_041277 disease not phenotype-associated
VAR_041278 commonName VAR_041278
VAR_041278 disease not phenotype-associated
VAR_041279 commonName VAR_041279
VAR_041279 disease not phenotype-associated
VAR_041280 comment A lung adenocarcinoma sample
VAR_041280 commonName VAR_041280
VAR_041281 commonName VAR_041281
VAR_041281 disease not phenotype-associated
VAR_041282 comment A metastatic melanoma sample
VAR_041282 commonName VAR_041282
VAR_041283 comment A metastatic melanoma sample
VAR_041283 commonName VAR_041283
VAR_041284 commonName VAR_041284
VAR_041284 disease not phenotype-associated
VAR_041285 commonName VAR_041285
VAR_041285 disease not phenotype-associated
VAR_041286 commonName VAR_041286
VAR_041286 disease not phenotype-associated
VAR_041287 commonName VAR_041287
VAR_041287 disease not phenotype-associated
VAR_041288 commonName VAR_041288
VAR_041288 disease not phenotype-associated
VAR_041289 commonName VAR_041289
VAR_041289 disease not phenotype-associated
VAR_041290 commonName VAR_041290
VAR_041290 disease not phenotype-associated
VAR_041291 commonName VAR_041291
VAR_041291 disease not phenotype-associated
VAR_041292 commonName VAR_041292
VAR_041292 disease not phenotype-associated
VAR_041293 commonName VAR_041293
VAR_041293 disease not phenotype-associated
VAR_041294 commonName VAR_041294
VAR_041294 disease not phenotype-associated
VAR_041295 commonName VAR_041295
VAR_041295 disease not phenotype-associated
VAR_041296 commonName VAR_041296
VAR_041296 disease not phenotype-associated
VAR_041297 commonName VAR_041297
VAR_041297 disease not phenotype-associated
VAR_041298 commonName VAR_041298
VAR_041298 disease not phenotype-associated
VAR_041299 commonName VAR_041299
VAR_041299 disease not phenotype-associated
VAR_041300 commonName VAR_041300
VAR_041300 disease not phenotype-associated
VAR_041301 commonName VAR_041301
VAR_041301 disease not phenotype-associated
VAR_041302 commonName VAR_041302
VAR_041302 disease not phenotype-associated
VAR_041304 commonName VAR_041304
VAR_041304 disease not phenotype-associated
VAR_041305 comment A gastric adenocarcinoma sample
VAR_041305 commonName VAR_041305
VAR_041306 comment An ovarian mucinous carcinoma sample
VAR_041306 commonName VAR_041306
VAR_041307 commonName VAR_041307
VAR_041307 disease not phenotype-associated
VAR_041308 commonName VAR_041308
VAR_041308 disease not phenotype-associated
VAR_041309 commonName VAR_041309
VAR_041309 disease not phenotype-associated
VAR_041310 commonName VAR_041310
VAR_041310 disease not phenotype-associated
VAR_041311 comment A breast pleomorphic lobular carcinoma sample
VAR_041311 commonName VAR_041311
VAR_041312 commonName VAR_041312
VAR_041312 disease not phenotype-associated
VAR_041313 commonName VAR_041313
VAR_041313 disease not phenotype-associated
VAR_041314 commonName VAR_041314
VAR_041314 disease not phenotype-associated
VAR_041315 commonName VAR_041315
VAR_041315 disease not phenotype-associated
VAR_041316 commonName VAR_041316
VAR_041316 disease not phenotype-associated
VAR_041317 commonName VAR_041317
VAR_041317 disease not phenotype-associated
VAR_041318 commonName VAR_041318
VAR_041318 disease not phenotype-associated
VAR_041319 commonName VAR_041319
VAR_041319 disease not phenotype-associated
VAR_041320 comment A breast pleomorphic lobular carcinoma sample
VAR_041320 commonName VAR_041320
VAR_041321 comment A lung adenocarcinoma sample
VAR_041321 commonName VAR_041321
VAR_041322 commonName VAR_041322
VAR_041322 disease not phenotype-associated
VAR_041323 commonName VAR_041323
VAR_041323 disease not phenotype-associated
VAR_041324 comment A lung squamous cell carcinoma sample
VAR_041324 commonName VAR_041324
VAR_041325 commonName VAR_041325
VAR_041325 disease not phenotype-associated
VAR_041326 commonName VAR_041326
VAR_041326 disease not phenotype-associated
VAR_041327 commonName VAR_041327
VAR_041327 disease not phenotype-associated
VAR_041328 comment A lung large cell carcinoma sample
VAR_041328 commonName VAR_041328
VAR_041329 comment A renal clear cell carcinoma sample
VAR_041329 commonName VAR_041329
VAR_041330 comment An ovarian mucinous carcinoma sample
VAR_041330 commonName VAR_041330
VAR_041334 comment A breast pleomorphic lobular carcinoma sample
VAR_041334 commonName VAR_041334
VAR_041335 comment A metastatic melanoma sample
VAR_041335 commonName VAR_041335
VAR_041336 commonName VAR_041336
VAR_041336 disease not phenotype-associated
VAR_041337 comment A colorectal adenocarcinoma sample
VAR_041337 commonName VAR_041337
VAR_041338 comment An ovarian serous carcinoma sample
VAR_041338 commonName VAR_041338
VAR_041339 comment A colorectal adenocarcinoma sample
VAR_041339 commonName VAR_041339
VAR_041340 commonName VAR_041340
VAR_041340 disease not phenotype-associated
VAR_041342 commonName VAR_041342
VAR_041342 disease not phenotype-associated
VAR_041343 commonName VAR_041343
VAR_041343 disease not phenotype-associated
VAR_041344 commonName VAR_041344
VAR_041344 disease not phenotype-associated
VAR_041345 commonName VAR_041345
VAR_041345 disease not phenotype-associated
VAR_041346 comment A lung adenocarcinoma sample
VAR_041346 commonName VAR_041346
VAR_041347 comment A lung adenocarcinoma sample
VAR_041347 commonName VAR_041347
VAR_041348 commonName VAR_041348
VAR_041348 disease not phenotype-associated
VAR_041349 commonName VAR_041349
VAR_041349 disease not phenotype-associated
VAR_041350 commonName VAR_041350
VAR_041350 disease not phenotype-associated
VAR_041351 commonName VAR_041351
VAR_041351 disease not phenotype-associated
VAR_041352 commonName VAR_041352
VAR_041352 disease not phenotype-associated
VAR_041353 commonName VAR_041353
VAR_041353 disease not phenotype-associated
VAR_041354 commonName VAR_041354
VAR_041354 disease not phenotype-associated
VAR_041355 comment A gastric adenocarcinoma sample
VAR_041355 commonName VAR_041355
VAR_041356 commonName VAR_041356
VAR_041356 disease not phenotype-associated
VAR_041357 comment A gastric adenocarcinoma sample
VAR_041357 commonName VAR_041357
VAR_041358 commonName VAR_041358
VAR_041358 disease not phenotype-associated
VAR_041364 commonName VAR_041364
VAR_041364 disease not phenotype-associated
VAR_041365 comment A metastatic melanoma sample
VAR_041365 commonName VAR_041365
VAR_041366 commonName VAR_041366
VAR_041366 disease not phenotype-associated
VAR_041367 commonName VAR_041367
VAR_041367 disease not phenotype-associated
VAR_041368 commonName VAR_041368
VAR_041368 disease not phenotype-associated
VAR_041371 comment A glioblastoma multiforme sample
VAR_041371 commonName VAR_041371
VAR_041372 commonName VAR_041372
VAR_041372 disease not phenotype-associated
VAR_041373 commonName VAR_041373
VAR_041373 disease not phenotype-associated
VAR_041374 commonName VAR_041374
VAR_041374 disease not phenotype-associated
VAR_041375 commonName VAR_041375
VAR_041375 disease not phenotype-associated
VAR_041376 comment A lung small cell carcinoma sample
VAR_041376 commonName VAR_041376
VAR_041377 commonName VAR_041377
VAR_041377 disease not phenotype-associated
VAR_041378 commonName VAR_041378
VAR_041378 disease not phenotype-associated
VAR_041379 commonName VAR_041379
VAR_041379 disease not phenotype-associated
VAR_041380 commonName VAR_041380
VAR_041380 disease not phenotype-associated
VAR_041381 commonName VAR_041381
VAR_041381 disease not phenotype-associated
VAR_041382 commonName VAR_041382
VAR_041382 disease not phenotype-associated
VAR_041383 commonName VAR_041383
VAR_041383 disease not phenotype-associated
VAR_041384 commonName VAR_041384
VAR_041384 disease not phenotype-associated
VAR_041385 comment A colorectal adenocarcinoma sample
VAR_041385 commonName VAR_041385
VAR_041388 commonName VAR_041388
VAR_041388 disease not phenotype-associated
VAR_041389 comment A gastric adenocarcinoma sample
VAR_041389 commonName VAR_041389
VAR_041390 commonName VAR_041390
VAR_041390 disease not phenotype-associated
VAR_041391 commonName VAR_041391
VAR_041391 disease not phenotype-associated
VAR_041392 commonName VAR_041392
VAR_041392 disease not phenotype-associated
VAR_041393 commonName VAR_041393
VAR_041393 disease not phenotype-associated
VAR_041394 commonName VAR_041394
VAR_041394 disease not phenotype-associated
VAR_041395 comment A melanoma sample
VAR_041395 commonName VAR_041395
VAR_041396 commonName VAR_041396
VAR_041396 disease not phenotype-associated
VAR_041397 commonName VAR_041397
VAR_041397 disease not phenotype-associated
VAR_041398 comment A renal clear cell carcinoma sample
VAR_041398 commonName VAR_041398
VAR_041399 commonName VAR_041399
VAR_041399 disease not phenotype-associated
VAR_041400 comment A gastric adenocarcinoma sample
VAR_041400 commonName VAR_041400
VAR_041401 comment A gastric adenocarcinoma sample
VAR_041401 commonName VAR_041401
VAR_041402 commonName VAR_041402
VAR_041402 disease not phenotype-associated
VAR_041403 commonName VAR_041403
VAR_041403 disease not phenotype-associated
VAR_041404 comment A metastatic melanoma sample
VAR_041404 commonName VAR_041404
VAR_041405 commonName VAR_041405
VAR_041405 disease not phenotype-associated
VAR_041406 commonName VAR_041406
VAR_041406 disease not phenotype-associated
VAR_041407 commonName VAR_041407
VAR_041407 disease not phenotype-associated
VAR_041408 commonName VAR_041408
VAR_041408 disease not phenotype-associated
VAR_041409 comment A lung squamous cell carcinoma sample
VAR_041409 commonName VAR_041409
VAR_041410 commonName VAR_041410
VAR_041410 disease not phenotype-associated
VAR_041411 commonName VAR_041411
VAR_041411 disease not phenotype-associated
VAR_041412 commonName VAR_041412
VAR_041412 disease not phenotype-associated
VAR_041413 commonName VAR_041413
VAR_041413 disease not phenotype-associated
VAR_041414 comment A gastric adenocarcinoma sample
VAR_041414 commonName VAR_041414
VAR_041418 commonName VAR_041418
VAR_041418 disease not phenotype-associated
VAR_041419 commonName VAR_041419
VAR_041419 disease not phenotype-associated
VAR_041420 commonName VAR_041420
VAR_041420 disease not phenotype-associated
VAR_041421 commonName VAR_041421
VAR_041421 disease not phenotype-associated
VAR_041422 commonName VAR_041422
VAR_041422 disease not phenotype-associated
VAR_041423 commonName VAR_041423
VAR_041423 disease not phenotype-associated
VAR_041424 commonName VAR_041424
VAR_041425 commonName VAR_041425
VAR_041425 disease not phenotype-associated
VAR_041429 comment A gastric adenocarcinoma sample
VAR_041429 commonName VAR_041429
VAR_041430 commonName VAR_041430
VAR_041430 disease not phenotype-associated
VAR_041434 commonName VAR_041434
VAR_041434 disease not phenotype-associated
VAR_041435 commonName VAR_041435
VAR_041435 disease not phenotype-associated
VAR_041436 commonName VAR_041436
VAR_041436 disease not phenotype-associated
VAR_041437 commonName VAR_041437
VAR_041437 disease not phenotype-associated
VAR_041438 comment A lung adenocarcinoma sample
VAR_041438 commonName VAR_041438
VAR_041439 commonName VAR_041439
VAR_041439 disease not phenotype-associated
VAR_041440 commonName VAR_041440
VAR_041440 disease not phenotype-associated
VAR_041441 comment A glioblastoma multiforme sample
VAR_041441 commonName VAR_041441
VAR_041442 commonName VAR_041442
VAR_041442 disease not phenotype-associated
VAR_041443 commonName VAR_041443
VAR_041443 disease not phenotype-associated
VAR_041444 commonName VAR_041444
VAR_041444 disease not phenotype-associated
VAR_041445 commonName VAR_041445
VAR_041445 disease not phenotype-associated
VAR_041446 commonName VAR_041446
VAR_041446 disease not phenotype-associated
VAR_041447 comment A gastric adenocarcinoma sample
VAR_041447 commonName VAR_041447
VAR_041448 commonName VAR_041448
VAR_041448 disease not phenotype-associated
VAR_041449 commonName VAR_041449
VAR_041449 disease not phenotype-associated
VAR_041450 comment A lung large cell carcinoma sample
VAR_041450 commonName VAR_041450
VAR_041451 commonName VAR_041451
VAR_041451 disease not phenotype-associated
VAR_041452 commonName VAR_041452
VAR_041452 disease not phenotype-associated
VAR_041453 commonName VAR_041453
VAR_041453 disease not phenotype-associated
VAR_041454 commonName VAR_041454
VAR_041454 disease not phenotype-associated
VAR_041455 commonName VAR_041455
VAR_041455 disease not phenotype-associated
VAR_041456 comment A colorectal adenocarcinoma sample
VAR_041456 commonName VAR_041456
VAR_041457 comment A gastric adenocarcinoma sample
VAR_041457 commonName VAR_041457
VAR_041458 commonName VAR_041458
VAR_041458 disease not phenotype-associated
VAR_041459 commonName VAR_041459
VAR_041459 disease not phenotype-associated
VAR_041460 commonName VAR_041460
VAR_041460 disease not phenotype-associated
VAR_041461 commonName VAR_041461
VAR_041461 disease not phenotype-associated
VAR_041462 comment An ovarian serous carcinoma sample
VAR_041462 commonName VAR_041462
VAR_041463 commonName VAR_041463
VAR_041463 disease not phenotype-associated
VAR_041464 commonName VAR_041464
VAR_041464 disease not phenotype-associated
VAR_041465 commonName VAR_041465
VAR_041465 disease not phenotype-associated
VAR_041466 commonName VAR_041466
VAR_041466 disease not phenotype-associated
VAR_041467 commonName VAR_041467
VAR_041467 disease not phenotype-associated
VAR_041468 commonName VAR_041468
VAR_041468 disease not phenotype-associated
VAR_041469 commonName VAR_041469
VAR_041469 disease not phenotype-associated
VAR_041470 comment A lung adenocarcinoma sample
VAR_041470 commonName VAR_041470
VAR_041471 comment A gastric adenocarcinoma sample
VAR_041471 commonName VAR_041471
VAR_041472 commonName VAR_041472
VAR_041472 disease not phenotype-associated
VAR_041473 comment A lung adenocarcinoma sample
VAR_041473 commonName VAR_041473
VAR_041474 comment A lung adenocarcinoma sample
VAR_041474 commonName VAR_041474
VAR_041475 comment A lung adenocarcinoma sample
VAR_041475 commonName VAR_041475
VAR_041476 commonName VAR_041476
VAR_041476 disease not phenotype-associated
VAR_041477 commonName VAR_041477
VAR_041477 disease not phenotype-associated
VAR_041478 commonName VAR_041478
VAR_041478 disease not phenotype-associated
VAR_041479 commonName VAR_041479
VAR_041479 disease not phenotype-associated
VAR_041480 commonName VAR_041480
VAR_041480 disease not phenotype-associated
VAR_041481 comment A breast pleomorphic lobular carcinoma sample
VAR_041481 commonName VAR_041481
VAR_041482 commonName VAR_041482
VAR_041482 disease not phenotype-associated
VAR_041483 commonName VAR_041483
VAR_041483 disease not phenotype-associated
VAR_041484 comment An ovarian serous carcinoma sample
VAR_041484 commonName VAR_041484
VAR_041485 commonName VAR_041485
VAR_041485 disease not phenotype-associated
VAR_041486 commonName VAR_041486
VAR_041486 disease not phenotype-associated
VAR_041487 commonName VAR_041487
VAR_041487 disease not phenotype-associated
VAR_041488 commonName VAR_041488
VAR_041488 disease not phenotype-associated
VAR_041489 commonName VAR_041489
VAR_041489 disease not phenotype-associated
VAR_041490 commonName VAR_041490
VAR_041490 disease not phenotype-associated
VAR_041491 commonName VAR_041491
VAR_041491 disease not phenotype-associated
VAR_041498 comment A lung large cell carcinoma sample
VAR_041498 commonName VAR_041498
VAR_041499 commonName VAR_041499
VAR_041499 disease not phenotype-associated
VAR_041500 commonName VAR_041500
VAR_041500 disease not phenotype-associated
VAR_041501 commonName VAR_041501
VAR_041501 disease not phenotype-associated
VAR_041502 commonName VAR_041502
VAR_041502 disease not phenotype-associated
VAR_041503 commonName VAR_041503
VAR_041503 disease not phenotype-associated
VAR_041504 commonName VAR_041504
VAR_041504 disease not phenotype-associated
VAR_041505 commonName VAR_041505
VAR_041505 disease not phenotype-associated
VAR_041506 commonName VAR_041506
VAR_041506 disease not phenotype-associated
VAR_041507 commonName VAR_041507
VAR_041507 disease not phenotype-associated
VAR_041508 comment A colorectal adenocarcinoma sample
VAR_041508 commonName VAR_041508
VAR_041509 commonName VAR_041509
VAR_041509 disease not phenotype-associated
VAR_041510 commonName VAR_041510
VAR_041510 disease not phenotype-associated
VAR_041511 commonName VAR_041511
VAR_041511 disease not phenotype-associated
VAR_041512 commonName VAR_041512
VAR_041512 disease not phenotype-associated
VAR_041513 commonName VAR_041513
VAR_041513 disease not phenotype-associated
VAR_041514 comment An ovarian mucinous carcinoma sample
VAR_041514 commonName VAR_041514
VAR_041515 commonName VAR_041515
VAR_041515 disease not phenotype-associated
VAR_041516 commonName VAR_041516
VAR_041516 disease not phenotype-associated
VAR_041517 commonName VAR_041517
VAR_041517 disease not phenotype-associated
VAR_041518 commonName VAR_041518
VAR_041518 disease not phenotype-associated
VAR_041519 commonName VAR_041519
VAR_041519 disease not phenotype-associated
VAR_041520 commonName VAR_041520
VAR_041520 disease not phenotype-associated
VAR_041524 commonName VAR_041524
VAR_041524 disease not phenotype-associated
VAR_041525 commonName VAR_041525
VAR_041525 disease not phenotype-associated
VAR_041526 comment A lung large cell carcinoma sample
VAR_041526 commonName VAR_041526
VAR_041527 commonName VAR_041527
VAR_041527 disease not phenotype-associated
VAR_041528 commonName VAR_041528
VAR_041528 disease not phenotype-associated
VAR_041529 commonName VAR_041529
VAR_041529 disease not phenotype-associated
VAR_041530 commonName VAR_041530
VAR_041530 disease not phenotype-associated
VAR_041531 comment A metastatic melanoma sample
VAR_041531 commonName VAR_041531
VAR_041532 commonName VAR_041532
VAR_041532 disease not phenotype-associated
VAR_041533 commonName VAR_041533
VAR_041533 disease not phenotype-associated
VAR_041534 comment A colorectal adenocarcinoma sample
VAR_041534 commonName VAR_041534
VAR_041535 commonName VAR_041535
VAR_041535 disease not phenotype-associated
VAR_041536 commonName VAR_041536
VAR_041536 disease not phenotype-associated
VAR_041537 comment A lung large cell carcinoma sample
VAR_041537 commonName VAR_041537
VAR_041538 comment A metastatic melanoma sample
VAR_041538 commonName VAR_041538
VAR_041539 commonName VAR_041539
VAR_041539 disease not phenotype-associated
VAR_041540 commonName VAR_041540
VAR_041540 disease not phenotype-associated
VAR_041541 commonName VAR_041541
VAR_041541 disease not phenotype-associated
VAR_041542 comment An ovarian mucinous carcinoma sample
VAR_041542 commonName VAR_041542
VAR_041543 comment A colorectal adenocarcinoma sample
VAR_041543 commonName VAR_041543
VAR_041544 comment A glioblastoma multiforme sample
VAR_041544 commonName VAR_041544
VAR_041545 comment A colorectal adenocarcinoma sample
VAR_041545 commonName VAR_041545
VAR_041546 commonName VAR_041546
VAR_041546 disease not phenotype-associated
VAR_041547 commonName VAR_041547
VAR_041547 disease not phenotype-associated
VAR_041548 commonName VAR_041548
VAR_041548 disease not phenotype-associated
VAR_041549 comment A colorectal adenocarcinoma sample
VAR_041549 commonName VAR_041549
VAR_041550 comment A colorectal adenocarcinoma sample
VAR_041550 commonName VAR_041550
VAR_041551 commonName VAR_041551
VAR_041551 disease not phenotype-associated
VAR_041552 commonName VAR_041552
VAR_041552 disease not phenotype-associated
VAR_041553 comment A colorectal adenocarcinoma sample
VAR_041553 commonName VAR_041553
VAR_041554 commonName VAR_041554
VAR_041554 disease not phenotype-associated
VAR_041555 commonName VAR_041555
VAR_041555 disease not phenotype-associated
VAR_041556 comment A lung adenocarcinoma sample
VAR_041556 commonName VAR_041556
VAR_041557 commonName VAR_041557
VAR_041557 disease not phenotype-associated
VAR_041558 commonName VAR_041558
VAR_041558 disease not phenotype-associated
VAR_041559 commonName VAR_041559
VAR_041559 disease not phenotype-associated
VAR_041560 comment A gastric adenocarcinoma sample
VAR_041560 commonName VAR_041560
VAR_041561 commonName VAR_041561
VAR_041561 disease not phenotype-associated
VAR_041562 commonName VAR_041562
VAR_041562 disease not phenotype-associated
VAR_041563 commonName VAR_041563
VAR_041563 disease not phenotype-associated
VAR_041564 comment A renal papillary cancer sample
VAR_041564 commonName VAR_041564
VAR_041565 commonName VAR_041565
VAR_041565 disease not phenotype-associated
VAR_041566 commonName VAR_041566
VAR_041566 disease not phenotype-associated
VAR_041584 commonName VAR_041584
VAR_041584 disease not phenotype-associated
VAR_041585 commonName VAR_041585
VAR_041585 disease not phenotype-associated
VAR_041586 commonName VAR_041586
VAR_041586 disease not phenotype-associated
VAR_041587 commonName VAR_041587
VAR_041587 disease not phenotype-associated
VAR_041588 commonName VAR_041588
VAR_041588 disease not phenotype-associated
VAR_041589 commonName VAR_041589
VAR_041589 disease not phenotype-associated
VAR_041590 commonName VAR_041590
VAR_041590 disease not phenotype-associated
VAR_041591 comment A lung squamous cell carcinoma sample
VAR_041591 commonName VAR_041591
VAR_041592 commonName VAR_041592
VAR_041592 disease not phenotype-associated
VAR_041593 commonName VAR_041593
VAR_041593 disease not phenotype-associated
VAR_041594 comment A lung adenocarcinoma sample
VAR_041594 commonName VAR_041594
VAR_041595 commonName VAR_041595
VAR_041595 disease not phenotype-associated
VAR_041596 commonName VAR_041596
VAR_041596 disease not phenotype-associated
VAR_041597 comment A lung large cell carcinoma sample
VAR_041597 commonName VAR_041597
VAR_041598 commonName VAR_041598
VAR_041598 disease not phenotype-associated
VAR_041599 commonName VAR_041599
VAR_041599 disease not phenotype-associated
VAR_041600 comment A breast pleomorphic lobular carcinoma sample
VAR_041600 commonName VAR_041600
VAR_041601 comment A breast infiltrating ductal carcinoma sample
VAR_041601 commonName VAR_041601
VAR_041602 comment A lung adenocarcinoma sample
VAR_041602 commonName VAR_041602
VAR_041603 commonName VAR_041603
VAR_041603 disease not phenotype-associated
VAR_041604 comment A metastatic melanoma sample
VAR_041604 commonName VAR_041604
VAR_041605 commonName VAR_041605
VAR_041605 disease not phenotype-associated
VAR_041606 comment A colorectal adenocarcinoma sample
VAR_041606 commonName VAR_041606
VAR_041607 commonName VAR_041607
VAR_041607 disease not phenotype-associated
VAR_041608 commonName VAR_041608
VAR_041608 disease not phenotype-associated
VAR_041609 commonName VAR_041609
VAR_041609 disease not phenotype-associated
VAR_041610 comment A lung squamous cell carcinoma sample
VAR_041610 commonName VAR_041610
VAR_041611 commonName VAR_041611
VAR_041611 disease not phenotype-associated
VAR_041612 comment A metastatic melanoma sample
VAR_041612 commonName VAR_041612
VAR_041613 commonName VAR_041613
VAR_041613 disease not phenotype-associated
VAR_041614 commonName VAR_041614
VAR_041614 disease not phenotype-associated
VAR_041615 comment A metastatic melanoma sample
VAR_041615 commonName VAR_041615
VAR_041616 comment A lung neuroendocrine carcinoma sample
VAR_041616 commonName VAR_041616
VAR_041617 commonName VAR_041617
VAR_041617 disease not phenotype-associated
VAR_041618 commonName VAR_041618
VAR_041618 disease not phenotype-associated
VAR_041619 commonName VAR_041619
VAR_041619 disease not phenotype-associated
VAR_041620 commonName VAR_041620
VAR_041620 disease not phenotype-associated
VAR_041621 commonName VAR_041621
VAR_041621 disease not phenotype-associated
VAR_041622 commonName VAR_041622
VAR_041622 disease not phenotype-associated
VAR_041623 commonName VAR_041623
VAR_041623 disease not phenotype-associated
VAR_041624 commonName VAR_041624
VAR_041624 disease not phenotype-associated
VAR_041625 commonName VAR_041625
VAR_041625 disease not phenotype-associated
VAR_041626 commonName VAR_041626
VAR_041626 disease not phenotype-associated
VAR_041627 commonName VAR_041627
VAR_041627 disease not phenotype-associated
VAR_041628 commonName VAR_041628
VAR_041628 disease not phenotype-associated
VAR_041629 commonName VAR_041629
VAR_041629 disease not phenotype-associated
VAR_041630 commonName VAR_041630
VAR_041630 disease not phenotype-associated
HbVar.681 ethnic Greek
VAR_041631 commonName VAR_041631
VAR_041631 disease not phenotype-associated
VAR_041632 commonName VAR_041632
VAR_041632 disease not phenotype-associated
VAR_041633 commonName VAR_041633
VAR_041633 disease not phenotype-associated
VAR_041634 commonName VAR_041634
VAR_041634 disease not phenotype-associated
VAR_041635 commonName VAR_041635
VAR_041635 disease not phenotype-associated
VAR_041636 commonName VAR_041636
VAR_041636 disease not phenotype-associated
VAR_041637 commonName VAR_041637
VAR_041637 disease not phenotype-associated
VAR_041638 commonName VAR_041638
VAR_041638 disease not phenotype-associated
VAR_041639 commonName VAR_041639
VAR_041639 disease not phenotype-associated
VAR_041640 commonName VAR_041640
VAR_041640 disease not phenotype-associated
VAR_041641 commonName VAR_041641
VAR_041641 disease not phenotype-associated
VAR_041642 commonName VAR_041642
VAR_041642 disease not phenotype-associated
VAR_041643 commonName VAR_041643
VAR_041643 disease not phenotype-associated
VAR_041644 commonName VAR_041644
VAR_041644 disease not phenotype-associated
VAR_041645 commonName VAR_041645
VAR_041645 disease not phenotype-associated
VAR_041646 commonName VAR_041646
VAR_041646 disease not phenotype-associated
VAR_041647 commonName VAR_041647
VAR_041647 disease not phenotype-associated
VAR_041648 commonName VAR_041648
VAR_041648 disease not phenotype-associated
VAR_041649 commonName VAR_041649
VAR_041649 disease not phenotype-associated
VAR_041650 comment A breast pleomorphic lobular carcinoma sample
VAR_041650 commonName VAR_041650
VAR_041651 commonName VAR_041651
VAR_041651 disease not phenotype-associated
VAR_041652 commonName VAR_041652
VAR_041652 disease not phenotype-associated
VAR_041658 comment An ovarian serous carcinoma sample
VAR_041658 commonName VAR_041658
VAR_041659 commonName VAR_041659
VAR_041659 disease not phenotype-associated
VAR_041660 comment A colorectal adenocarcinoma sample
VAR_041660 commonName VAR_041660
VAR_041661 comment A gastric adenocarcinoma sample
VAR_041661 commonName VAR_041661
VAR_041662 commonName VAR_041662
VAR_041662 disease not phenotype-associated
VAR_041663 comment A colorectal adenocarcinoma sample
VAR_041663 commonName VAR_041663
VAR_041664 comment An ovarian mucinous carcinoma sample
VAR_041664 commonName VAR_041664
VAR_041665 commonName VAR_041665
VAR_041665 disease not phenotype-associated
VAR_041666 comment A colorectal adenocarcinoma sample
VAR_041666 commonName VAR_041666
VAR_041667 commonName VAR_041667
VAR_041667 disease not phenotype-associated
VAR_041668 comment A lung large cell carcinoma sample
VAR_041668 commonName VAR_041668
VAR_041669 commonName VAR_041669
VAR_041669 disease not phenotype-associated
VAR_041670 commonName VAR_041670
VAR_041670 disease not phenotype-associated
VAR_041671 comment A colorectal adenocarcinoma sample
VAR_041671 commonName VAR_041671
VAR_041672 commonName VAR_041672
VAR_041672 disease not phenotype-associated
VAR_041673 commonName VAR_041673
VAR_041673 disease not phenotype-associated
VAR_041674 commonName VAR_041674
VAR_041674 disease not phenotype-associated
VAR_041675 comment A lung large cell carcinoma sample
VAR_041675 commonName VAR_041675
VAR_041676 commonName VAR_041676
VAR_041676 disease not phenotype-associated
VAR_041677 comment A lung large cell carcinoma sample
VAR_041677 commonName VAR_041677
VAR_041678 commonName VAR_041678
VAR_041678 disease not phenotype-associated
VAR_041679 comment An ovarian mucinous carcinoma sample
VAR_041679 commonName VAR_041679
VAR_041680 commonName VAR_041680
VAR_041680 disease not phenotype-associated
VAR_041681 comment A colorectal adenocarcinoma sample
VAR_041681 commonName VAR_041681
VAR_041682 commonName VAR_041682
VAR_041682 disease not phenotype-associated
VAR_041683 commonName VAR_041683
VAR_041683 disease not phenotype-associated
VAR_041684 comment A glioblastoma multiforme sample
VAR_041684 commonName VAR_041684
VAR_041685 commonName VAR_041685
VAR_041685 disease not phenotype-associated
VAR_041686 comment A metastatic melanoma sample
VAR_041686 commonName VAR_041686
VAR_041687 commonName VAR_041687
VAR_041687 disease not phenotype-associated
VAR_041688 commonName VAR_041688
VAR_041688 disease not phenotype-associated
VAR_041689 commonName VAR_041689
VAR_041689 disease not phenotype-associated
VAR_041690 commonName VAR_041690
VAR_041690 disease not phenotype-associated
VAR_041691 commonName VAR_041691
VAR_041691 disease not phenotype-associated
VAR_041692 comment An ovarian Endometrioid carcinoma sample
VAR_041692 commonName VAR_041692
VAR_041693 commonName VAR_041693
VAR_041693 disease not phenotype-associated
VAR_041694 commonName VAR_041694
VAR_041694 disease not phenotype-associated
VAR_041695 comment A lung small cell carcinoma sample
VAR_041695 commonName VAR_041695
VAR_041697 commonName VAR_041697
VAR_041697 disease not phenotype-associated
VAR_041698 commonName VAR_041698
VAR_041698 disease not phenotype-associated
VAR_041699 commonName VAR_041699
VAR_041699 disease not phenotype-associated
VAR_041700 commonName VAR_041700
VAR_041700 disease not phenotype-associated
VAR_041701 commonName VAR_041701
VAR_041701 disease not phenotype-associated
VAR_041702 commonName VAR_041702
VAR_041702 disease not phenotype-associated
VAR_041703 commonName VAR_041703
VAR_041703 disease not phenotype-associated
VAR_041704 comment A lung squamous cell carcinoma sample
VAR_041704 commonName VAR_041704
VAR_041705 comment A metastatic melanoma sample
VAR_041705 commonName VAR_041705
VAR_041706 commonName VAR_041706
VAR_041706 disease not phenotype-associated
VAR_041707 commonName VAR_041707
VAR_041707 disease not phenotype-associated
VAR_041708 commonName VAR_041708
VAR_041708 disease not phenotype-associated
VAR_041709 comment An ovarian mucinous carcinoma sample
VAR_041709 commonName VAR_041709
VAR_041710 comment A metastatic melanoma sample
VAR_041710 commonName VAR_041710
VAR_041711 comment A metastatic melanoma sample
VAR_041711 commonName VAR_041711
VAR_041712 comment A gastric adenocarcinoma sample
VAR_041712 commonName VAR_041712
VAR_041713 commonName VAR_041713
VAR_041713 disease not phenotype-associated
VAR_041714 commonName VAR_041714
VAR_041714 disease not phenotype-associated
VAR_041715 commonName VAR_041715
VAR_041715 disease not phenotype-associated
VAR_041716 commonName VAR_041716
VAR_041716 disease not phenotype-associated
VAR_041717 comment An ovarian serous carcinoma sample
VAR_041717 commonName VAR_041717
VAR_041718 commonName VAR_041718
VAR_041718 disease not phenotype-associated
VAR_041719 commonName VAR_041719
VAR_041719 disease not phenotype-associated
VAR_041720 commonName VAR_041720
VAR_041720 disease not phenotype-associated
VAR_041721 commonName VAR_041721
VAR_041721 disease not phenotype-associated
VAR_041722 commonName VAR_041722
VAR_041722 disease not phenotype-associated
VAR_041723 commonName VAR_041723
VAR_041723 disease not phenotype-associated
VAR_041724 commonName VAR_041724
VAR_041724 disease not phenotype-associated
VAR_041725 comment A gastric adenocarcinoma sample
VAR_041725 commonName VAR_041725
VAR_041726 commonName VAR_041726
VAR_041726 disease not phenotype-associated
VAR_041727 comment A lung large cell carcinoma sample
VAR_041727 commonName VAR_041727
VAR_041728 commonName VAR_041728
VAR_041728 disease not phenotype-associated
VAR_041729 commonName VAR_041729
VAR_041729 disease not phenotype-associated
VAR_041730 commonName VAR_041730
VAR_041730 disease not phenotype-associated
VAR_041731 commonName VAR_041731
VAR_041731 disease not phenotype-associated
VAR_041732 commonName VAR_041732
VAR_041732 disease not phenotype-associated
VAR_041733 commonName VAR_041733
VAR_041733 disease not phenotype-associated
VAR_041734 commonName VAR_041734
VAR_041734 disease not phenotype-associated
VAR_041735 commonName VAR_041735
VAR_041735 disease not phenotype-associated
VAR_041736 commonName VAR_041736
VAR_041736 disease not phenotype-associated
VAR_041737 comment A breast pleomorphic lobular carcinoma sample
VAR_041737 commonName VAR_041737
VAR_041738 commonName VAR_041738
VAR_041738 disease not phenotype-associated
VAR_041739 commonName VAR_041739
VAR_041739 disease not phenotype-associated
VAR_041740 commonName VAR_041740
VAR_041740 disease not phenotype-associated
VAR_041741 commonName VAR_041741
VAR_041741 disease not phenotype-associated
VAR_041742 commonName VAR_041742
VAR_041742 disease not phenotype-associated
VAR_041743 comment A renal clear cell carcinoma sample
VAR_041743 commonName VAR_041743
VAR_041744 commonName VAR_041744
VAR_041744 disease not phenotype-associated
VAR_041745 commonName VAR_041745
VAR_041745 disease not phenotype-associated
VAR_041746 comment A head & Neck squamous cell carcinoma sample
VAR_041746 commonName VAR_041746
VAR_041747 commonName VAR_041747
VAR_041747 disease not phenotype-associated
VAR_041748 commonName VAR_041748
VAR_041748 disease not phenotype-associated
VAR_041749 commonName VAR_041749
VAR_041749 disease not phenotype-associated
VAR_041750 commonName VAR_041750
VAR_041750 disease not phenotype-associated
VAR_041751 commonName VAR_041751
VAR_041751 disease not phenotype-associated
VAR_041752 commonName VAR_041752
VAR_041752 disease not phenotype-associated
VAR_041753 commonName VAR_041753
VAR_041753 disease not phenotype-associated
VAR_041754 commonName VAR_041754
VAR_041754 disease not phenotype-associated
VAR_041755 commonName VAR_041755
VAR_041755 disease not phenotype-associated
VAR_041756 commonName VAR_041756
VAR_041756 disease not phenotype-associated
VAR_041757 commonName VAR_041757
VAR_041757 disease not phenotype-associated
VAR_041758 comment A lung neuroendocrine carcinoma sample
VAR_041758 commonName VAR_041758
VAR_041759 commonName VAR_041759
VAR_041759 disease not phenotype-associated
VAR_041760 commonName VAR_041760
VAR_041761 commonName VAR_041761
VAR_041761 disease not phenotype-associated
VAR_041762 comment A colorectal adenocarcinoma sample
VAR_041762 commonName VAR_041762
VAR_041763 commonName VAR_041763
VAR_041763 disease not phenotype-associated
VAR_041764 commonName VAR_041764
VAR_041765 commonName VAR_041765
VAR_041765 disease not phenotype-associated
VAR_041766 commonName VAR_041766
VAR_041766 disease not phenotype-associated
VAR_041767 comment A bladder transitional cell carcinoma sample
VAR_041767 commonName VAR_041767
VAR_041768 commonName VAR_041768
VAR_041768 disease not phenotype-associated
VAR_041769 commonName VAR_041769
VAR_041769 disease not phenotype-associated
VAR_041770 commonName VAR_041770
VAR_041770 disease not phenotype-associated
VAR_041771 commonName VAR_041771
VAR_041771 disease not phenotype-associated
HbVar.681 phenoCommon Hemoglobin variant
VAR_041772 commonName VAR_041772
VAR_041772 disease not phenotype-associated
VAR_041773 commonName VAR_041773
VAR_041773 disease not phenotype-associated
VAR_041774 commonName VAR_041774
VAR_041774 disease not phenotype-associated
VAR_041775 commonName VAR_041775
VAR_041775 disease not phenotype-associated
VAR_041776 commonName VAR_041776
VAR_041776 disease not phenotype-associated
VAR_041777 commonName VAR_041777
VAR_041777 disease not phenotype-associated
VAR_041778 commonName VAR_041778
VAR_041778 disease not phenotype-associated
VAR_041779 comment A metastatic melanoma sample
VAR_041779 commonName VAR_041779
VAR_041780 comment An ovarian mucinous carcinoma sample
VAR_041780 commonName VAR_041780
VAR_041781 comment A renal clear cell carcinoma sample
VAR_041781 commonName VAR_041781
VAR_041782 commonName VAR_041782
VAR_041782 disease not phenotype-associated
VAR_041783 comment A colorectal adenocarcinoma sample
VAR_041783 commonName VAR_041783
VAR_041784 commonName VAR_041784
VAR_041784 disease not phenotype-associated
VAR_041785 commonName VAR_041785
VAR_041785 disease not phenotype-associated
VAR_041786 comment A colorectal adenocarcinoma sample
VAR_041786 commonName VAR_041786
VAR_041787 commonName VAR_041787
VAR_041787 disease not phenotype-associated
VAR_041788 commonName VAR_041788
VAR_041788 disease not phenotype-associated
VAR_041789 commonName VAR_041789
VAR_041789 disease not phenotype-associated
VAR_041790 commonName VAR_041790
VAR_041790 disease not phenotype-associated
VAR_041791 comment A colorectal adenocarcinoma sample
VAR_041791 commonName VAR_041791
VAR_041792 commonName VAR_041792
VAR_041792 disease not phenotype-associated
VAR_041793 commonName VAR_041793
VAR_041793 disease not phenotype-associated
VAR_041794 commonName VAR_041794
VAR_041794 disease not phenotype-associated
VAR_041795 commonName VAR_041795
VAR_041795 disease not phenotype-associated
VAR_041796 commonName VAR_041796
VAR_041796 disease not phenotype-associated
VAR_041797 commonName VAR_041797
VAR_041797 disease not phenotype-associated
VAR_041798 commonName VAR_041798
VAR_041798 disease not phenotype-associated
VAR_041799 commonName VAR_041799
VAR_041799 disease not phenotype-associated
VAR_041803 commonName VAR_041803
VAR_041803 disease not phenotype-associated
VAR_041804 commonName VAR_041804
VAR_041804 disease not phenotype-associated
VAR_041805 commonName VAR_041805
VAR_041805 disease not phenotype-associated
VAR_041806 commonName VAR_041806
VAR_041806 disease not phenotype-associated
VAR_041807 commonName VAR_041807
VAR_041807 disease not phenotype-associated
VAR_041808 commonName VAR_041808
VAR_041808 disease not phenotype-associated
VAR_041809 commonName VAR_041809
VAR_041809 disease not phenotype-associated
VAR_041810 commonName VAR_041810
VAR_041810 disease not phenotype-associated
VAR_041811 commonName VAR_041811
VAR_041811 disease not phenotype-associated
VAR_041812 commonName VAR_041812
VAR_041812 disease not phenotype-associated
VAR_041813 commonName VAR_041813
VAR_041813 disease not phenotype-associated
VAR_041814 commonName VAR_041814
VAR_041814 disease not phenotype-associated
VAR_041815 commonName VAR_041815
VAR_041815 disease not phenotype-associated
VAR_041816 commonName VAR_041816
VAR_041816 disease not phenotype-associated
VAR_041817 commonName VAR_041817
VAR_041817 disease not phenotype-associated
VAR_041818 commonName VAR_041818
VAR_041818 disease not phenotype-associated
VAR_041819 commonName VAR_041819
VAR_041819 disease not phenotype-associated
VAR_041820 comment A bladder carcinoma NOS sample
VAR_041820 commonName VAR_041820
VAR_041821 commonName VAR_041821
VAR_041821 disease not phenotype-associated
VAR_041822 commonName VAR_041822
VAR_041822 disease not phenotype-associated
VAR_041823 comment A metastatic melanoma sample
VAR_041823 commonName VAR_041823
VAR_041824 commonName VAR_041824
VAR_041824 disease not phenotype-associated
VAR_041825 commonName VAR_041825
VAR_041825 disease not phenotype-associated
VAR_041830 commonName VAR_041830
VAR_041830 disease not phenotype-associated
VAR_041831 commonName VAR_041831
VAR_041831 disease not phenotype-associated
VAR_041832 commonName VAR_041832
VAR_041832 disease not phenotype-associated
VAR_041833 commonName VAR_041833
VAR_041833 disease not phenotype-associated
VAR_041834 commonName VAR_041834
VAR_041834 disease not phenotype-associated
VAR_041835 commonName VAR_041835
VAR_041835 disease not phenotype-associated
VAR_041836 commonName VAR_041836
VAR_041836 disease not phenotype-associated
VAR_041837 commonName VAR_041837
VAR_041837 disease not phenotype-associated
VAR_041838 commonName VAR_041838
VAR_041838 disease not phenotype-associated
VAR_041839 commonName VAR_041839
VAR_041839 disease not phenotype-associated
VAR_041840 commonName VAR_041840
VAR_041840 disease not phenotype-associated
VAR_041841 commonName VAR_041841
VAR_041841 disease not phenotype-associated
VAR_041842 commonName VAR_041842
VAR_041842 disease not phenotype-associated
VAR_041843 commonName VAR_041843
VAR_041843 disease not phenotype-associated
VAR_041844 comment A glioblastoma multiforme sample
VAR_041844 commonName VAR_041844
VAR_041845 commonName VAR_041845
VAR_041845 disease not phenotype-associated
VAR_041846 commonName VAR_041846
VAR_041846 disease not phenotype-associated
VAR_041847 commonName VAR_041847
VAR_041847 disease not phenotype-associated
VAR_041850 commonName VAR_041850
VAR_041850 disease not phenotype-associated
VAR_041851 comment A lung adenocarcinoma sample
VAR_041851 commonName VAR_041851
VAR_041852 commonName VAR_041852
VAR_041852 disease not phenotype-associated
VAR_041855 commonName VAR_041855
VAR_041855 disease not phenotype-associated
VAR_041856 commonName VAR_041856
VAR_041856 disease not phenotype-associated
VAR_041857 commonName VAR_041857
VAR_041857 disease not phenotype-associated
VAR_041858 commonName VAR_041858
VAR_041858 disease not phenotype-associated
VAR_041859 commonName VAR_041859
VAR_041859 disease not phenotype-associated
VAR_041860 commonName VAR_041860
VAR_041860 disease not phenotype-associated
VAR_041863 commonName VAR_041863
VAR_041863 disease not phenotype-associated
VAR_041864 comment A lung adenocarcinoma sample
VAR_041864 commonName VAR_041864
VAR_041865 commonName VAR_041865
VAR_041865 disease not phenotype-associated
VAR_041866 commonName VAR_041866
VAR_041866 disease not phenotype-associated
VAR_041867 commonName VAR_041867
VAR_041867 disease not phenotype-associated
VAR_041868 commonName VAR_041868
VAR_041868 disease not phenotype-associated
VAR_041869 commonName VAR_041869
VAR_041869 disease not phenotype-associated
VAR_041870 commonName VAR_041870
VAR_041870 disease not phenotype-associated
VAR_041871 commonName VAR_041871
VAR_041871 disease not phenotype-associated
VAR_041872 comment A colorectal adenocarcinoma sample
VAR_041872 commonName VAR_041872
VAR_041873 commonName VAR_041873
VAR_041873 disease not phenotype-associated
VAR_041876 commonName VAR_041876
VAR_041876 disease not phenotype-associated
VAR_041877 comment A gastric adenocarcinoma sample
VAR_041877 commonName VAR_041877
VAR_041878 commonName VAR_041878
VAR_041878 disease not phenotype-associated
VAR_041879 commonName VAR_041879
VAR_041879 disease not phenotype-associated
VAR_041880 commonName VAR_041880
VAR_041880 disease not phenotype-associated
VAR_041881 commonName VAR_041881
VAR_041881 disease not phenotype-associated
VAR_041882 commonName VAR_041882
VAR_041882 disease not phenotype-associated
VAR_041883 comment A bladder transitional cell carcinoma sample
VAR_041883 commonName VAR_041883
VAR_041884 commonName VAR_041884
VAR_041884 disease not phenotype-associated
VAR_041885 commonName VAR_041885
VAR_041885 disease not phenotype-associated
VAR_041898 commonName VAR_041898
VAR_041898 disease not phenotype-associated
VAR_041899 commonName VAR_041899
VAR_041899 disease not phenotype-associated
VAR_041900 commonName VAR_041900
VAR_041900 disease not phenotype-associated
VAR_041901 commonName VAR_041901
VAR_041901 disease not phenotype-associated
VAR_041902 comment A metastatic melanoma sample
VAR_041902 commonName VAR_041902
VAR_041903 commonName VAR_041903
VAR_041903 disease not phenotype-associated
VAR_041913 comment A renal clear cell carcinoma sample
VAR_041913 commonName VAR_041913
VAR_041914 comment A gastric adenocarcinoma sample
VAR_041914 commonName VAR_041914
VAR_041915 commonName VAR_041915
VAR_041915 disease not phenotype-associated
VAR_041916 commonName VAR_041916
VAR_041916 disease not phenotype-associated
VAR_041917 commonName VAR_041917
VAR_041917 disease not phenotype-associated
VAR_041918 commonName VAR_041918
VAR_041918 disease not phenotype-associated
VAR_041919 commonName VAR_041919
VAR_041919 disease not phenotype-associated
VAR_041920 commonName VAR_041920
VAR_041920 disease not phenotype-associated
VAR_041921 commonName VAR_041921
VAR_041921 disease not phenotype-associated
VAR_041922 commonName VAR_041922
VAR_041922 disease not phenotype-associated
VAR_041923 commonName VAR_041923
VAR_041923 disease not phenotype-associated
VAR_041924 commonName VAR_041924
VAR_041924 disease not phenotype-associated
VAR_041925 commonName VAR_041925
VAR_041925 disease not phenotype-associated
VAR_041926 comment A gastric adenocarcinoma sample
VAR_041926 commonName VAR_041926
VAR_041927 comment A lung neuroendocrine carcinoma sample
VAR_041927 commonName VAR_041927
VAR_041928 commonName VAR_041928
VAR_041928 disease not phenotype-associated
VAR_041929 commonName VAR_041929
VAR_041929 disease not phenotype-associated
VAR_041930 commonName VAR_041930
VAR_041930 disease not phenotype-associated
VAR_041931 comment A colorectal adenocarcinoma sample
VAR_041931 commonName VAR_041931
VAR_041932 comment A metastatic melanoma sample
VAR_041932 commonName VAR_041932
VAR_041933 comment A lung bronchoalveolar carcinoma sample
VAR_041933 commonName VAR_041933
VAR_041934 comment A lung small cell carcinoma sample
VAR_041934 commonName VAR_041934
VAR_041935 commonName VAR_041935
VAR_041935 disease not phenotype-associated
VAR_041936 commonName VAR_041936
VAR_041936 disease not phenotype-associated
VAR_041937 commonName VAR_041937
VAR_041937 disease not phenotype-associated
VAR_041938 commonName VAR_041938
VAR_041938 disease not phenotype-associated
VAR_041939 commonName VAR_041939
VAR_041939 disease not phenotype-associated
VAR_041940 comment A lung adenocarcinoma sample
VAR_041940 commonName VAR_041940
VAR_041941 comment A lung adenocarcinoma sample
VAR_041941 commonName VAR_041941
VAR_041942 comment A lung adenocarcinoma sample
VAR_041942 commonName VAR_041942
VAR_041943 commonName VAR_041943
VAR_041943 disease not phenotype-associated
VAR_041944 commonName VAR_041944
VAR_041944 disease not phenotype-associated
VAR_041945 commonName VAR_041945
VAR_041945 disease not phenotype-associated
VAR_041946 commonName VAR_041946
VAR_041946 disease not phenotype-associated
VAR_041947 commonName VAR_041947
VAR_041947 disease not phenotype-associated
VAR_041948 commonName VAR_041948
VAR_041948 disease not phenotype-associated
VAR_041949 commonName VAR_041949
VAR_041949 disease not phenotype-associated
VAR_041950 commonName VAR_041950
VAR_041950 disease not phenotype-associated
VAR_041951 commonName VAR_041951
VAR_041951 disease not phenotype-associated
VAR_041952 comment A glioblastoma multiforme sample
VAR_041952 commonName VAR_041952
VAR_041953 commonName VAR_041953
VAR_041953 disease not phenotype-associated
VAR_041954 commonName VAR_041954
VAR_041954 disease not phenotype-associated
VAR_041955 comment A lung adenocarcinoma sample
VAR_041955 commonName VAR_041955
VAR_041956 comment A lung large cell carcinoma sample
VAR_041956 commonName VAR_041956
VAR_041957 commonName VAR_041957
VAR_041957 disease not phenotype-associated
VAR_041958 commonName VAR_041958
VAR_041958 disease not phenotype-associated
VAR_041959 commonName VAR_041959
VAR_041959 disease not phenotype-associated
VAR_041960 commonName VAR_041960
VAR_041960 disease not phenotype-associated
VAR_041965 commonName VAR_041965
VAR_041965 disease not phenotype-associated
VAR_041966 commonName VAR_041966
VAR_041966 disease not phenotype-associated
VAR_041967 commonName VAR_041967
VAR_041967 disease not phenotype-associated
VAR_041968 commonName VAR_041968
VAR_041968 disease not phenotype-associated
VAR_041969 comment A colorectal adenocarcinoma sample
VAR_041969 commonName VAR_041969
VAR_041970 commonName VAR_041970
VAR_041970 disease not phenotype-associated
VAR_041972 comment A glioblastoma multiforme sample
VAR_041972 commonName VAR_041972
VAR_041973 comment A glioblastoma multiforme sample
VAR_041973 commonName VAR_041973
VAR_041974 commonName VAR_041974
VAR_041974 disease not phenotype-associated
VAR_041975 commonName VAR_041975
VAR_041975 disease not phenotype-associated
VAR_041976 commonName VAR_041976
VAR_041976 disease not phenotype-associated
VAR_041977 commonName VAR_041977
VAR_041977 disease not phenotype-associated
VAR_041978 commonName VAR_041978
VAR_041978 disease not phenotype-associated
VAR_041979 comment A metastatic melanoma sample
VAR_041979 commonName VAR_041979
VAR_041980 comment A lung neuroendocrine carcinoma sample
VAR_041980 commonName VAR_041980
VAR_041982 commonName VAR_041982
VAR_041982 disease not phenotype-associated
VAR_041983 commonName VAR_041983
VAR_041983 disease not phenotype-associated
VAR_041984 commonName VAR_041984
VAR_041984 disease not phenotype-associated
VAR_041987 comment An ovarian papillary serous adenocarcinoma sample
VAR_041987 commonName VAR_041987
VAR_041988 comment An ovarian mucinous carcinoma sample
VAR_041988 commonName VAR_041988
VAR_041989 commonName VAR_041989
VAR_041989 disease not phenotype-associated
VAR_041990 commonName VAR_041990
VAR_041990 disease not phenotype-associated
VAR_041991 commonName VAR_041991
VAR_041991 disease not phenotype-associated
VAR_041992 commonName VAR_041992
VAR_041992 disease not phenotype-associated
VAR_041993 commonName VAR_041993
VAR_041993 disease not phenotype-associated
VAR_041994 commonName VAR_041994
VAR_041994 disease not phenotype-associated
VAR_041995 commonName VAR_041995
VAR_041995 disease not phenotype-associated
VAR_041996 commonName VAR_041996
VAR_041996 disease not phenotype-associated
VAR_041997 comment A metastatic melanoma sample
VAR_041997 commonName VAR_041997
VAR_041998 comment An ovarian serous carcinoma sample
VAR_041998 commonName VAR_041998
VAR_041999 commonName VAR_041999
VAR_041999 disease not phenotype-associated
VAR_042001 comment A renal clear cell carcinoma sample
VAR_042001 commonName VAR_042001
VAR_042002 commonName VAR_042002
VAR_042002 disease not phenotype-associated
VAR_042003 commonName VAR_042003
VAR_042003 disease not phenotype-associated
VAR_042004 commonName VAR_042004
VAR_042004 disease not phenotype-associated
VAR_042005 commonName VAR_042005
VAR_042005 disease not phenotype-associated
VAR_042006 commonName VAR_042006
VAR_042006 disease not phenotype-associated
VAR_042007 comment A breast infiltrating ductal carcinoma sample
VAR_042007 commonName VAR_042007
VAR_042008 commonName VAR_042008
VAR_042008 disease not phenotype-associated
VAR_042009 commonName VAR_042009
VAR_042009 disease not phenotype-associated
VAR_042010 commonName VAR_042010
VAR_042010 disease not phenotype-associated
VAR_042011 commonName VAR_042011
VAR_042011 disease not phenotype-associated
VAR_042012 commonName VAR_042012
VAR_042012 disease not phenotype-associated
VAR_042013 commonName VAR_042013
VAR_042013 disease not phenotype-associated
VAR_042016 commonName VAR_042016
VAR_042016 disease not phenotype-associated
VAR_042017 comment A renal clear cell carcinoma sample
VAR_042017 commonName VAR_042017
VAR_042018 commonName VAR_042018
VAR_042018 disease not phenotype-associated
VAR_042021 commonName VAR_042021
VAR_042021 disease not phenotype-associated
VAR_042022 commonName VAR_042022
VAR_042022 disease not phenotype-associated
VAR_042023 commonName VAR_042023
VAR_042023 disease not phenotype-associated
VAR_042024 commonName VAR_042024
VAR_042024 disease not phenotype-associated
VAR_042025 comment A colorectal adenocarcinoma sample
VAR_042025 commonName VAR_042025
VAR_042026 comment A colorectal adenocarcinoma sample
VAR_042026 commonName VAR_042026
VAR_042027 commonName VAR_042027
VAR_042027 disease not phenotype-associated
VAR_042028 commonName VAR_042028
VAR_042028 disease not phenotype-associated
VAR_042029 comment A gastric adenocarcinoma sample
VAR_042029 commonName VAR_042029
VAR_042030 commonName VAR_042030
VAR_042030 disease not phenotype-associated
VAR_042031 comment A breast infiltrating ductal carcinoma sample
VAR_042031 commonName VAR_042031
VAR_042032 commonName VAR_042032
VAR_042032 disease not phenotype-associated
VAR_042033 commonName VAR_042033
VAR_042033 disease not phenotype-associated
VAR_042038 commonName VAR_042038
VAR_042038 disease not phenotype-associated
VAR_042039 commonName VAR_042039
VAR_042039 disease not phenotype-associated
VAR_042040 commonName VAR_042040
VAR_042040 disease not phenotype-associated
VAR_042041 commonName VAR_042041
VAR_042041 disease not phenotype-associated
VAR_042042 comment A lung squamous cell carcinoma sample
VAR_042042 commonName VAR_042042
VAR_042043 commonName VAR_042043
VAR_042043 disease not phenotype-associated
VAR_042044 commonName VAR_042044
VAR_042044 disease not phenotype-associated
VAR_042045 commonName VAR_042045
VAR_042045 disease not phenotype-associated
VAR_042046 commonName VAR_042046
VAR_042046 disease not phenotype-associated
VAR_042047 commonName VAR_042047
VAR_042047 disease not phenotype-associated
VAR_042048 comment A lung adenocarcinoma sample
VAR_042048 commonName VAR_042048
VAR_042049 comment A glioma low grade oligodendroglioma sample
VAR_042049 commonName VAR_042049
VAR_042050 commonName VAR_042050
VAR_042050 disease not phenotype-associated
VAR_042051 commonName VAR_042051
VAR_042051 disease not phenotype-associated
VAR_042052 comment A bladder transitional cell carcinoma sample
VAR_042052 commonName VAR_042052
VAR_042053 comment A lung adenocarcinoma sample
VAR_042053 commonName VAR_042053
VAR_042054 commonName VAR_042054
VAR_042054 disease not phenotype-associated
VAR_042055 comment A renal clear cell carcinoma sample
VAR_042055 commonName VAR_042055
VAR_042056 commonName VAR_042056
VAR_042056 disease not phenotype-associated
VAR_042057 commonName VAR_042057
VAR_042057 disease not phenotype-associated
VAR_042058 commonName VAR_042058
VAR_042058 disease not phenotype-associated
VAR_042059 commonName VAR_042059
VAR_042059 disease not phenotype-associated
VAR_042060 commonName VAR_042060
VAR_042060 disease not phenotype-associated
VAR_042061 commonName VAR_042061
VAR_042061 disease not phenotype-associated
VAR_042062 commonName VAR_042062
VAR_042062 disease not phenotype-associated
VAR_042063 comment A renal clear cell carcinoma sample
VAR_042063 commonName VAR_042063
VAR_042064 commonName VAR_042064
VAR_042064 disease not phenotype-associated
VAR_042065 comment A metastatic melanoma sample
VAR_042065 commonName VAR_042065
VAR_042066 commonName VAR_042066
VAR_042066 disease not phenotype-associated
VAR_042067 commonName VAR_042067
VAR_042067 disease not phenotype-associated
VAR_042068 commonName VAR_042068
VAR_042068 disease not phenotype-associated
VAR_042069 commonName VAR_042069
VAR_042069 disease not phenotype-associated
VAR_042070 commonName VAR_042070
VAR_042070 disease not phenotype-associated
VAR_042071 commonName VAR_042071
VAR_042071 disease not phenotype-associated
VAR_042072 commonName VAR_042072
VAR_042072 disease not phenotype-associated
VAR_042073 comment A breast pleomorphic lobular carcinoma sample
VAR_042073 commonName VAR_042073
VAR_042074 commonName VAR_042074
VAR_042074 disease not phenotype-associated
VAR_042075 commonName VAR_042075
VAR_042075 disease not phenotype-associated
VAR_042076 commonName VAR_042076
VAR_042076 disease not phenotype-associated
VAR_042077 commonName VAR_042077
VAR_042077 disease not phenotype-associated
VAR_042078 commonName VAR_042078
VAR_042078 disease not phenotype-associated
VAR_042079 commonName VAR_042079
VAR_042079 disease not phenotype-associated
VAR_042080 commonName VAR_042080
VAR_042080 disease not phenotype-associated
VAR_042081 commonName VAR_042081
VAR_042081 disease not phenotype-associated
VAR_042082 comment A lung adenocarcinoma sample
VAR_042082 commonName VAR_042082
VAR_042083 commonName VAR_042083
VAR_042083 disease not phenotype-associated
VAR_042084 commonName VAR_042084
VAR_042084 disease not phenotype-associated
VAR_042085 commonName VAR_042085
VAR_042085 disease not phenotype-associated
VAR_042086 commonName VAR_042086
VAR_042086 disease not phenotype-associated
VAR_042087 commonName VAR_042087
VAR_042087 disease not phenotype-associated
VAR_042088 commonName VAR_042088
VAR_042088 disease not phenotype-associated
VAR_042089 commonName VAR_042089
VAR_042089 disease not phenotype-associated
VAR_042090 commonName VAR_042090
VAR_042090 disease not phenotype-associated
VAR_042091 commonName VAR_042091
VAR_042091 disease not phenotype-associated
VAR_042092 commonName VAR_042092
VAR_042092 disease not phenotype-associated
VAR_042093 commonName VAR_042093
VAR_042093 disease not phenotype-associated
VAR_042094 commonName VAR_042094
VAR_042094 disease not phenotype-associated
VAR_042095 commonName VAR_042095
VAR_042095 disease not phenotype-associated
VAR_042097 commonName VAR_042097
VAR_042097 disease not phenotype-associated
VAR_042098 comment A gastric adenocarcinoma sample
VAR_042098 commonName VAR_042098
VAR_042099 comment An ovarian cancer sample
VAR_042099 commonName VAR_042099
VAR_042101 commonName VAR_042101
VAR_042101 disease not phenotype-associated
VAR_042102 commonName VAR_042102
VAR_042102 disease not phenotype-associated
VAR_042103 comment An ovarian mucinous carcinoma sample
VAR_042103 commonName VAR_042103
VAR_042104 commonName VAR_042104
VAR_042104 disease not phenotype-associated
VAR_042105 commonName VAR_042105
VAR_042105 disease not phenotype-associated
VAR_042113 comment A colorectal adenocarcinoma sample
VAR_042113 commonName VAR_042113
VAR_042114 comment A lung squamous cell carcinoma sample
VAR_042114 commonName VAR_042114
VAR_042115 commonName VAR_042115
VAR_042115 disease not phenotype-associated
VAR_042116 commonName VAR_042116
VAR_042116 disease not phenotype-associated
VAR_042117 commonName VAR_042117
VAR_042117 disease not phenotype-associated
VAR_042118 commonName VAR_042118
VAR_042118 disease not phenotype-associated
VAR_042119 comment A breast pleomorphic lobular carcinoma sample
VAR_042119 commonName VAR_042119
VAR_042120 commonName VAR_042120
VAR_042120 disease not phenotype-associated
VAR_042121 commonName VAR_042121
VAR_042121 disease not phenotype-associated
VAR_042122 commonName VAR_042122
VAR_042122 disease not phenotype-associated
VAR_042123 commonName VAR_042123
VAR_042123 disease not phenotype-associated
VAR_042124 comment A gastric adenocarcinoma sample
VAR_042124 commonName VAR_042124
VAR_042125 commonName VAR_042125
VAR_042125 disease not phenotype-associated
VAR_042126 comment A lung large cell carcinoma sample
VAR_042126 commonName VAR_042126
VAR_042127 comment A lung neuroendocrine carcinoma sample
VAR_042127 commonName VAR_042127
VAR_042128 comment A lung squamous cell carcinoma sample
VAR_042128 commonName VAR_042128
VAR_042129 commonName VAR_042129
VAR_042129 disease not phenotype-associated
VAR_042130 commonName VAR_042130
VAR_042130 disease not phenotype-associated
VAR_042131 commonName VAR_042131
VAR_042131 disease not phenotype-associated
VAR_042132 comment A lung adenocarcinoma sample
VAR_042132 commonName VAR_042132
VAR_042133 commonName VAR_042133
VAR_042133 disease not phenotype-associated
VAR_042134 commonName VAR_042134
VAR_042134 disease not phenotype-associated
VAR_042135 commonName VAR_042135
VAR_042135 disease not phenotype-associated
VAR_042136 comment A bladder carcinoma NOS sample
VAR_042136 commonName VAR_042136
VAR_042137 comment A metastatic melanoma sample
VAR_042137 commonName VAR_042137
VAR_042138 commonName VAR_042138
VAR_042138 disease not phenotype-associated
VAR_042139 commonName VAR_042139
VAR_042139 disease not phenotype-associated
VAR_042140 commonName VAR_042140
VAR_042140 disease not phenotype-associated
VAR_042141 comment A lung adenocarcinoma sample
VAR_042141 commonName VAR_042141
VAR_042142 comment A lung large cell carcinoma sample
VAR_042142 commonName VAR_042142
VAR_042143 comment A lung adenocarcinoma sample
VAR_042143 commonName VAR_042143
VAR_042144 commonName VAR_042144
VAR_042144 disease not phenotype-associated
VAR_042145 commonName VAR_042145
VAR_042145 disease not phenotype-associated
VAR_042146 comment A lung squamous cell carcinoma sample
VAR_042146 commonName VAR_042146
VAR_042147 commonName VAR_042147
VAR_042147 disease not phenotype-associated
VAR_042148 comment A lung large cell carcinoma sample
VAR_042148 commonName VAR_042148
VAR_042149 commonName VAR_042149
VAR_042149 disease not phenotype-associated
VAR_042150 comment A colorectal adenocarcinoma sample
VAR_042150 commonName VAR_042150
VAR_042151 comment A metastatic melanoma sample
VAR_042151 commonName VAR_042151
VAR_042152 comment A metastatic melanoma sample
VAR_042152 commonName VAR_042152
VAR_042153 commonName VAR_042153
VAR_042153 disease not phenotype-associated
VAR_042154 commonName VAR_042154
VAR_042154 disease not phenotype-associated
VAR_042155 comment A breast infiltrating ductal carcinoma sample
VAR_042155 commonName VAR_042155
VAR_042156 comment A gastric adenocarcinoma sample
VAR_042156 commonName VAR_042156
VAR_042157 comment A lung adenocarcinoma sample
VAR_042157 commonName VAR_042157
VAR_042158 comment A metastatic melanoma sample
VAR_042158 commonName VAR_042158
VAR_042159 comment A gastric adenocarcinoma sample
VAR_042159 commonName VAR_042159
VAR_042160 commonName VAR_042160
VAR_042160 disease not phenotype-associated
VAR_042161 commonName VAR_042161
VAR_042161 disease not phenotype-associated
VAR_042162 commonName VAR_042162
VAR_042162 disease not phenotype-associated
VAR_042163 comment A breast infiltrating ductal carcinoma sample
VAR_042163 commonName VAR_042163
VAR_042164 commonName VAR_042164
VAR_042164 disease not phenotype-associated
VAR_042165 commonName VAR_042165
VAR_042165 disease not phenotype-associated
VAR_042166 commonName VAR_042166
VAR_042166 disease not phenotype-associated
VAR_042172 commonName VAR_042172
VAR_042172 disease not phenotype-associated
VAR_042173 commonName VAR_042173
VAR_042173 disease not phenotype-associated
VAR_042174 commonName VAR_042174
VAR_042174 disease not phenotype-associated
VAR_042175 commonName VAR_042175
VAR_042175 disease not phenotype-associated
VAR_042176 comment A lung small cell carcinoma sample
VAR_042176 commonName VAR_042176
VAR_042177 commonName VAR_042177
VAR_042177 disease not phenotype-associated
VAR_042178 commonName VAR_042178
VAR_042178 disease not phenotype-associated
VAR_042179 commonName VAR_042179
VAR_042179 disease not phenotype-associated
VAR_042180 comment A lung neuroendocrine carcinoma sample
VAR_042180 commonName VAR_042180
VAR_042181 commonName VAR_042181
VAR_042181 disease not phenotype-associated
VAR_042182 commonName VAR_042182
VAR_042182 disease not phenotype-associated
VAR_042183 comment A metastatic melanoma sample
VAR_042183 commonName VAR_042183
VAR_042184 commonName VAR_042184
VAR_042184 disease not phenotype-associated
VAR_042185 commonName VAR_042185
VAR_042185 disease not phenotype-associated
VAR_042186 commonName VAR_042186
VAR_042186 disease not phenotype-associated
VAR_042187 commonName VAR_042187
VAR_042187 disease not phenotype-associated
VAR_042188 comment A gastric adenocarcinoma sample
VAR_042188 commonName VAR_042188
VAR_042189 commonName VAR_042189
VAR_042189 disease not phenotype-associated
VAR_042190 commonName VAR_042190
VAR_042190 disease not phenotype-associated
VAR_042191 commonName VAR_042191
VAR_042191 disease not phenotype-associated
VAR_042192 commonName VAR_042192
VAR_042192 disease not phenotype-associated
VAR_042193 commonName VAR_042193
VAR_042193 disease not phenotype-associated
VAR_042194 commonName VAR_042194
VAR_042194 disease not phenotype-associated
VAR_042195 commonName VAR_042195
VAR_042195 disease not phenotype-associated
VAR_042201 comment A breast infiltrating ductal carcinoma sample
VAR_042201 commonName VAR_042201
VAR_042202 comment A lung bronchoalveolar carcinoma sample
VAR_042202 commonName VAR_042202
VAR_042203 comment A lung large cell carcinoma sample
VAR_042203 commonName VAR_042203
VAR_042204 commonName VAR_042204
VAR_042204 disease not phenotype-associated
VAR_042205 comment An ovarian serous carcinoma sample
VAR_042205 commonName VAR_042205
VAR_042206 comment A lung squamous cell carcinoma sample
VAR_042206 commonName VAR_042206
VAR_042207 comment A lung adenocarcinoma sample
VAR_042207 commonName VAR_042207
VAR_042208 comment A colorectal adenocarcinoma sample
VAR_042208 commonName VAR_042208
VAR_042209 commonName VAR_042209
VAR_042209 disease not phenotype-associated
VAR_042210 commonName VAR_042210
VAR_042210 disease not phenotype-associated
VAR_042211 commonName VAR_042211
VAR_042211 disease not phenotype-associated
VAR_042212 commonName VAR_042212
VAR_042212 disease not phenotype-associated
VAR_042213 commonName VAR_042213
VAR_042213 disease not phenotype-associated
VAR_042214 commonName VAR_042214
VAR_042214 disease not phenotype-associated
VAR_042215 comment A breast pleomorphic lobular carcinoma sample
VAR_042215 commonName VAR_042215
VAR_042216 commonName VAR_042216
VAR_042216 disease not phenotype-associated
VAR_042219 commonName VAR_042219
VAR_042219 disease not phenotype-associated
VAR_042220 commonName VAR_042220
VAR_042220 disease not phenotype-associated
VAR_042221 commonName VAR_042221
VAR_042221 disease not phenotype-associated
VAR_042222 comment A metastatic melanoma sample
VAR_042222 commonName VAR_042222
VAR_042223 commonName VAR_042223
VAR_042223 disease not phenotype-associated
VAR_042224 commonName VAR_042224
VAR_042224 disease not phenotype-associated
VAR_042225 commonName VAR_042225
VAR_042225 disease not phenotype-associated
VAR_042226 commonName VAR_042226
VAR_042226 disease not phenotype-associated
VAR_042227 commonName VAR_042227
VAR_042227 disease not phenotype-associated
VAR_042228 commonName VAR_042228
VAR_042228 disease not phenotype-associated
VAR_042229 commonName VAR_042229
VAR_042229 disease not phenotype-associated
VAR_042230 comment A metastatic melanoma sample
VAR_042230 commonName VAR_042230
VAR_042231 commonName VAR_042231
VAR_042231 disease not phenotype-associated
VAR_042232 commonName VAR_042232
VAR_042232 disease not phenotype-associated
VAR_042233 commonName VAR_042233
VAR_042233 disease not phenotype-associated
VAR_042234 commonName VAR_042234
VAR_042234 disease not phenotype-associated
VAR_042235 commonName VAR_042235
VAR_042235 disease not phenotype-associated
VAR_042236 commonName VAR_042236
VAR_042236 disease not phenotype-associated
VAR_042237 commonName VAR_042237
VAR_042237 disease not phenotype-associated
VAR_042238 comment A glioblastoma multiforme sample
VAR_042238 commonName VAR_042238
VAR_042239 commonName VAR_042239
VAR_042239 disease not phenotype-associated
VAR_042240 commonName VAR_042240
VAR_042240 disease not phenotype-associated
VAR_042241 commonName VAR_042241
VAR_042241 disease not phenotype-associated
VAR_042242 comment A lung adenocarcinoma sample
VAR_042242 commonName VAR_042242
VAR_042243 comment A lung squamous cell carcinoma sample
VAR_042243 commonName VAR_042243
VAR_042244 comment A glioblastoma multiforme sample
VAR_042244 commonName VAR_042244
VAR_042245 commonName VAR_042245
VAR_042245 disease not phenotype-associated
VAR_042246 commonName VAR_042246
VAR_042246 disease not phenotype-associated
VAR_042247 commonName VAR_042247
VAR_042247 disease not phenotype-associated
VAR_042248 commonName VAR_042248
VAR_042248 disease not phenotype-associated
VAR_042249 commonName VAR_042249
VAR_042249 disease not phenotype-associated
VAR_042250 commonName VAR_042250
VAR_042250 disease not phenotype-associated
VAR_042251 commonName VAR_042251
VAR_042251 disease not phenotype-associated
VAR_042252 commonName VAR_042252
VAR_042252 disease not phenotype-associated
VAR_042254 commonName VAR_042254
VAR_042254 disease not phenotype-associated
VAR_042255 commonName VAR_042255
VAR_042255 disease not phenotype-associated
VAR_042256 commonName VAR_042256
VAR_042256 disease not phenotype-associated
VAR_042257 commonName VAR_042257
VAR_042257 disease not phenotype-associated
VAR_042258 comment A renal clear cell carcinoma sample
VAR_042258 commonName VAR_042258
VAR_042259 comment A glioblastoma multiforme sample
VAR_042259 commonName VAR_042259
VAR_042260 comment A colorectal adenocarcinoma sample
VAR_042260 commonName VAR_042260
VAR_042261 comment A head & Neck squamous cell carcinoma sample
VAR_042261 commonName VAR_042261
VAR_042262 commonName VAR_042262
VAR_042262 disease not phenotype-associated
VAR_042263 commonName VAR_042263
VAR_042263 disease not phenotype-associated
VAR_042264 comment A lung neuroendocrine carcinoma sample
VAR_042264 commonName VAR_042264
VAR_042265 commonName VAR_042265
VAR_042265 disease not phenotype-associated
VAR_042266 commonName VAR_042266
VAR_042266 disease not phenotype-associated
VAR_042267 commonName VAR_042267
VAR_042267 disease not phenotype-associated
VAR_042268 commonName VAR_042268
VAR_042268 disease not phenotype-associated
VAR_042269 commonName VAR_042269
VAR_042269 disease not phenotype-associated
VAR_042270 comment A gastric adenocarcinoma sample
VAR_042270 commonName VAR_042270
VAR_042273 comment A glioblastoma multiforme sample
VAR_042273 commonName VAR_042273
VAR_042274 commonName VAR_042274
VAR_042274 disease not phenotype-associated
VAR_042275 commonName VAR_042275
VAR_042276 commonName VAR_042276
VAR_042276 disease not phenotype-associated
VAR_042277 commonName VAR_042277
VAR_042277 disease not phenotype-associated
VAR_042278 commonName VAR_042278
VAR_042278 disease not phenotype-associated
VAR_042279 commonName VAR_042279
VAR_042279 disease not phenotype-associated
VAR_042280 commonName VAR_042280
VAR_042280 disease not phenotype-associated
VAR_042281 commonName VAR_042281
VAR_042281 disease not phenotype-associated
VAR_042282 commonName VAR_042282
VAR_042282 disease not phenotype-associated
VAR_042283 commonName VAR_042283
VAR_042283 disease not phenotype-associated
VAR_042284 commonName VAR_042284
VAR_042284 disease not phenotype-associated
VAR_042285 commonName VAR_042285
VAR_042285 disease not phenotype-associated
VAR_042286 commonName VAR_042286
VAR_042286 disease not phenotype-associated
VAR_042287 commonName VAR_042287
VAR_042287 disease not phenotype-associated
VAR_042288 commonName VAR_042288
VAR_042288 disease not phenotype-associated
VAR_042289 commonName VAR_042289
VAR_042289 disease not phenotype-associated
VAR_042290 commonName VAR_042290
VAR_042290 disease not phenotype-associated
VAR_042291 commonName VAR_042291
VAR_042291 disease not phenotype-associated
VAR_042292 commonName VAR_042292
VAR_042292 disease not phenotype-associated
VAR_042293 commonName VAR_042293
VAR_042293 disease not phenotype-associated
VAR_042294 commonName VAR_042294
VAR_042294 disease not phenotype-associated
VAR_042296 comment A glioblastoma multiforme sample
VAR_042296 commonName VAR_042296
VAR_042297 comment A head & Neck squamous cell carcinoma sample
VAR_042297 commonName VAR_042297
VAR_042298 commonName VAR_042298
VAR_042298 disease not phenotype-associated
VAR_042299 commonName VAR_042299
VAR_042299 disease not phenotype-associated
VAR_042300 commonName VAR_042300
VAR_042300 disease not phenotype-associated
VAR_042301 comment A colorectal adenocarcinoma sample
VAR_042301 commonName VAR_042301
VAR_042304 comment A colorectal adenocarcinoma sample
VAR_042304 commonName VAR_042304
VAR_042305 comment A glioblastoma multiforme sample
VAR_042305 commonName VAR_042305
VAR_042306 commonName VAR_042306
VAR_042306 disease not phenotype-associated
VAR_042307 commonName VAR_042307
VAR_042307 disease not phenotype-associated
VAR_042308 commonName VAR_042308
VAR_042308 disease not phenotype-associated
VAR_042309 commonName VAR_042309
VAR_042309 disease not phenotype-associated
VAR_042310 commonName VAR_042310
VAR_042310 disease not phenotype-associated
VAR_042312 commonName VAR_042312
VAR_042312 disease not phenotype-associated
VAR_042313 commonName VAR_042313
VAR_042313 disease not phenotype-associated
VAR_042314 commonName VAR_042314
VAR_042314 disease not phenotype-associated
VAR_042315 commonName VAR_042315
VAR_042315 disease not phenotype-associated
VAR_042319 comment A colorectal adenocarcinoma sample
VAR_042319 commonName VAR_042319
VAR_042320 commonName VAR_042320
VAR_042320 disease not phenotype-associated
VAR_042321 commonName VAR_042321
VAR_042321 disease not phenotype-associated
VAR_042322 comment A metastatic melanoma sample
VAR_042322 commonName VAR_042322
VAR_042323 commonName VAR_042323
VAR_042323 disease not phenotype-associated
VAR_042324 commonName VAR_042324
VAR_042324 disease not phenotype-associated
VAR_042325 commonName VAR_042325
VAR_042325 disease not phenotype-associated
VAR_042326 comment A metastatic melanoma sample
VAR_042326 commonName VAR_042326
VAR_042327 comment A lung bronchoalveolar carcinoma sample
VAR_042327 commonName VAR_042327
VAR_042328 commonName VAR_042328
VAR_042328 disease not phenotype-associated
VAR_042329 commonName VAR_042329
VAR_042329 disease not phenotype-associated
VAR_042330 commonName VAR_042330
VAR_042330 disease not phenotype-associated
VAR_042331 commonName VAR_042331
VAR_042331 disease not phenotype-associated
VAR_042332 commonName VAR_042332
VAR_042332 disease not phenotype-associated
VAR_042336 comment A glioblastoma multiforme sample
VAR_042336 commonName VAR_042336
VAR_042337 comment A metastatic melanoma sample
VAR_042337 commonName VAR_042337
VAR_042338 commonName VAR_042338
VAR_042338 disease not phenotype-associated
VAR_042339 commonName VAR_042339
VAR_042339 disease not phenotype-associated
VAR_042340 commonName VAR_042340
VAR_042340 disease not phenotype-associated
VAR_042341 commonName VAR_042341
VAR_042341 disease not phenotype-associated
VAR_042342 commonName VAR_042342
VAR_042342 disease not phenotype-associated
VAR_042343 commonName VAR_042343
VAR_042343 disease not phenotype-associated
VAR_042344 comment A breast infiltrating ductal carcinoma sample
VAR_042344 commonName VAR_042344
VAR_042345 comment A colorectal adenocarcinoma sample
VAR_042345 commonName VAR_042345
VAR_042346 commonName VAR_042346
VAR_042346 disease not phenotype-associated
VAR_042347 commonName VAR_042347
VAR_042347 disease not phenotype-associated
VAR_042348 commonName VAR_042348
VAR_042348 disease not phenotype-associated
VAR_042349 commonName VAR_042349
VAR_042349 disease not phenotype-associated
VAR_042350 commonName VAR_042350
VAR_042350 disease not phenotype-associated
VAR_042351 comment A renal clear cell carcinoma sample
VAR_042351 commonName VAR_042351
VAR_042352 commonName VAR_042352
VAR_042352 disease not phenotype-associated
VAR_042353 commonName VAR_042353
VAR_042353 disease not phenotype-associated
VAR_042354 commonName VAR_042354
VAR_042354 disease not phenotype-associated
VAR_042355 commonName VAR_042355
VAR_042355 disease not phenotype-associated
VAR_042356 commonName VAR_042356
VAR_042356 disease not phenotype-associated
VAR_042357 commonName VAR_042357
VAR_042357 disease not phenotype-associated
VAR_042358 commonName VAR_042358
VAR_042358 disease not phenotype-associated
VAR_042359 commonName VAR_042359
VAR_042359 disease not phenotype-associated
VAR_042364 commonName VAR_042364
VAR_042364 disease not phenotype-associated
VAR_042371 commonName VAR_042371
VAR_042371 disease not phenotype-associated
VAR_042372 comment A glioblastoma multiforme sample
VAR_042372 commonName VAR_042372
VAR_042373 commonName VAR_042373
VAR_042373 disease not phenotype-associated
VAR_042374 commonName VAR_042374
VAR_042374 disease not phenotype-associated
VAR_042375 commonName VAR_042375
VAR_042375 disease not phenotype-associated
VAR_042376 comment A glioblastoma multiforme sample
VAR_042376 commonName VAR_042376
VAR_042377 commonName VAR_042377
VAR_042377 disease not phenotype-associated
VAR_042378 comment A lung adenocarcinoma sample
VAR_042378 commonName VAR_042378
VAR_042379 comment A glioblastoma multiforme sample
VAR_042379 commonName VAR_042379
VAR_042380 commonName VAR_042380
VAR_042380 disease not phenotype-associated
VAR_042381 commonName VAR_042381
VAR_042381 disease not phenotype-associated
VAR_042382 comment An ovarian serous carcinoma sample
VAR_042382 commonName VAR_042382
VAR_042383 comment A lung squamous cell carcinoma sample
VAR_042383 commonName VAR_042383
VAR_042384 commonName VAR_042384
VAR_042384 disease not phenotype-associated
VAR_042385 commonName VAR_042385
VAR_042385 disease not phenotype-associated
VAR_042387 comment A lung adenocarcinoma sample
VAR_042387 commonName VAR_042387
VAR_042388 commonName VAR_042388
VAR_042388 disease not phenotype-associated
VAR_042389 comment A lung large cell carcinoma sample
VAR_042389 commonName VAR_042389
VAR_042390 commonName VAR_042390
VAR_042390 disease not phenotype-associated
VAR_042391 commonName VAR_042391
VAR_042391 disease not phenotype-associated
VAR_042392 commonName VAR_042392
VAR_042392 disease not phenotype-associated
VAR_042393 commonName VAR_042393
VAR_042393 disease not phenotype-associated
VAR_042394 commonName VAR_042394
VAR_042394 disease not phenotype-associated
VAR_042395 commonName VAR_042395
VAR_042395 disease not phenotype-associated
VAR_042396 comment An ovarian serous carcinoma sample
VAR_042396 commonName VAR_042396
VAR_042397 commonName VAR_042397
VAR_042397 disease not phenotype-associated
VAR_042398 commonName VAR_042398
VAR_042398 disease not phenotype-associated
VAR_042399 comment A breast infiltrating ductal carcinoma sample
VAR_042399 commonName VAR_042399
VAR_042400 comment A gastric adenocarcinoma sample
VAR_042400 commonName VAR_042400
VAR_042401 commonName VAR_042401
VAR_042401 disease not phenotype-associated
VAR_042402 commonName VAR_042402
VAR_042402 disease not phenotype-associated
VAR_042403 commonName VAR_042403
VAR_042403 disease not phenotype-associated
VAR_042404 commonName VAR_042404
VAR_042404 disease not phenotype-associated
VAR_042405 commonName VAR_042405
VAR_042405 disease not phenotype-associated
VAR_042406 commonName VAR_042406
VAR_042406 disease not phenotype-associated
VAR_042407 commonName VAR_042407
VAR_042407 disease not phenotype-associated
VAR_042408 commonName VAR_042408
VAR_042408 disease not phenotype-associated
VAR_042409 comment A lung neuroendocrine carcinoma sample
VAR_042409 commonName VAR_042409
VAR_042410 commonName VAR_042410
VAR_042410 disease not phenotype-associated
VAR_042411 commonName VAR_042411
VAR_042411 disease not phenotype-associated
VAR_042412 commonName VAR_042412
VAR_042412 disease not phenotype-associated
VAR_042413 commonName VAR_042413
VAR_042413 disease not phenotype-associated
VAR_042414 commonName VAR_042414
VAR_042414 disease not phenotype-associated
VAR_042415 commonName VAR_042415
VAR_042415 disease phenotype-associated
VAR_042415 phenoCommon Carboxypeptidase N deficiency (CPND) [MIM:212070]
VAR_042416 commonName VAR_042416
VAR_042416 disease phenotype-associated
VAR_042416 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]
VAR_042417 commonName VAR_042417
VAR_042417 disease phenotype-associated
VAR_042417 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042418 commonName VAR_042418
VAR_042418 disease phenotype-associated
VAR_042418 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042419 commonName VAR_042419
VAR_042419 disease not phenotype-associated
VAR_042420 commonName VAR_042420
VAR_042420 disease phenotype-associated
VAR_042420 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042421 commonName VAR_042421
VAR_042421 disease phenotype-associated
VAR_042421 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042422 commonName VAR_042422
VAR_042422 disease phenotype-associated
VAR_042422 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042423 commonName VAR_042423
VAR_042423 disease phenotype-associated
VAR_042423 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042424 commonName VAR_042424
VAR_042424 disease phenotype-associated
VAR_042424 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050]
VAR_042425 commonName VAR_042425
VAR_042425 disease not phenotype-associated
VAR_042426 commonName VAR_042426
VAR_042426 disease not phenotype-associated
VAR_042427 commonName VAR_042427
VAR_042427 disease not phenotype-associated
VAR_042428 commonName VAR_042428
VAR_042428 disease not phenotype-associated
VAR_042429 commonName VAR_042429
VAR_042429 disease not phenotype-associated
VAR_042431 commonName VAR_042431
VAR_042431 disease not phenotype-associated
VAR_042432 commonName VAR_042432
VAR_042432 disease not phenotype-associated
VAR_042433 commonName VAR_042433
VAR_042433 disease not phenotype-associated
VAR_042434 commonName VAR_042434
VAR_042434 disease not phenotype-associated
VAR_042435 commonName VAR_042435
VAR_042435 disease not phenotype-associated
VAR_042436 commonName VAR_042436
VAR_042436 disease not phenotype-associated
VAR_042437 commonName VAR_042437
VAR_042437 disease not phenotype-associated
VAR_042439 comment A colorectal cancer sample
VAR_042439 commonName VAR_042439
VAR_042441 commonName VAR_042441
VAR_042441 disease phenotype-associated
VAR_042441 phenoCommon Atypical Gaucher disease (AGD) [MIM:610539]
VAR_042443 commonName VAR_042443
VAR_042443 disease phenotype-associated
VAR_042443 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_042444 commonName VAR_042444
VAR_042444 disease not phenotype-associated
VAR_042445 commonName VAR_042445
VAR_042445 disease not phenotype-associated
VAR_042446 commonName VAR_042446
VAR_042446 disease not phenotype-associated
VAR_042447 commonName VAR_042447
VAR_042447 disease not phenotype-associated
VAR_042448 commonName VAR_042448
VAR_042448 disease phenotype-associated
VAR_042448 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042449 commonName VAR_042449
VAR_042449 disease phenotype-associated
VAR_042449 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042450 commonName VAR_042450
VAR_042450 disease phenotype-associated
VAR_042450 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042451 commonName VAR_042451
VAR_042451 disease not phenotype-associated
VAR_042452 commonName VAR_042452
VAR_042452 disease phenotype-associated
VAR_042452 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042453 commonName VAR_042453
VAR_042453 disease phenotype-associated
VAR_042453 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042454 commonName VAR_042454
VAR_042454 disease phenotype-associated
VAR_042454 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042454 phenoCommon Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]
VAR_042455 commonName VAR_042455
VAR_042455 disease phenotype-associated
VAR_042455 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042456 commonName VAR_042456
VAR_042456 disease phenotype-associated
VAR_042456 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042457 commonName VAR_042457
VAR_042457 disease phenotype-associated
VAR_042457 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042458 commonName VAR_042458
VAR_042458 disease phenotype-associated
VAR_042458 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042459 commonName VAR_042459
VAR_042459 disease phenotype-associated
VAR_042459 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042460 commonName VAR_042460
VAR_042460 disease phenotype-associated
VAR_042460 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042461 commonName VAR_042461
VAR_042461 disease phenotype-associated
VAR_042461 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042462 commonName VAR_042462
VAR_042462 disease phenotype-associated
VAR_042462 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042463 commonName VAR_042463
VAR_042463 disease phenotype-associated
VAR_042463 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_042464 commonName VAR_042464
VAR_042464 disease not phenotype-associated
VAR_042465 commonName VAR_042465
VAR_042465 disease not phenotype-associated
VAR_042466 commonName VAR_042466
VAR_042466 disease not phenotype-associated
VAR_042467 commonName VAR_042467
VAR_042467 disease not phenotype-associated
VAR_042468 commonName VAR_042468
VAR_042468 disease not phenotype-associated
VAR_042469 commonName VAR_042469
VAR_042469 disease not phenotype-associated
VAR_042470 commonName VAR_042470
VAR_042470 disease not phenotype-associated
VAR_042471 commonName VAR_042471
VAR_042471 disease not phenotype-associated
VAR_042472 commonName VAR_042472
VAR_042472 disease not phenotype-associated
VAR_042473 commonName VAR_042473
VAR_042473 disease not phenotype-associated
VAR_042474 commonName VAR_042474
VAR_042474 disease not phenotype-associated
VAR_042475 commonName VAR_042475
VAR_042475 disease not phenotype-associated
VAR_042476 commonName VAR_042476
VAR_042476 disease not phenotype-associated
VAR_042477 commonName VAR_042477
VAR_042477 disease not phenotype-associated
VAR_042478 commonName VAR_042478
VAR_042478 disease not phenotype-associated
VAR_042479 commonName VAR_042479
VAR_042479 disease not phenotype-associated
VAR_042480 commonName VAR_042480
VAR_042480 disease not phenotype-associated
VAR_042481 commonName VAR_042481
VAR_042481 disease not phenotype-associated
VAR_042482 commonName VAR_042482
VAR_042482 disease not phenotype-associated
VAR_042483 commonName VAR_042483
VAR_042483 disease not phenotype-associated
VAR_042484 commonName VAR_042484
VAR_042484 disease not phenotype-associated
VAR_042485 commonName VAR_042485
VAR_042485 disease not phenotype-associated
VAR_042486 commonName VAR_042486
VAR_042486 disease not phenotype-associated
VAR_042487 commonName VAR_042487
VAR_042487 disease not phenotype-associated
VAR_042488 commonName VAR_042488
VAR_042488 disease not phenotype-associated
VAR_042489 commonName VAR_042489
VAR_042489 disease not phenotype-associated
VAR_042490 commonName VAR_042490
VAR_042490 disease not phenotype-associated
VAR_042491 commonName VAR_042491
VAR_042491 disease not phenotype-associated
VAR_042492 commonName VAR_042492
VAR_042492 disease not phenotype-associated
VAR_042493 commonName VAR_042493
VAR_042493 disease not phenotype-associated
VAR_042494 commonName VAR_042494
VAR_042494 disease not phenotype-associated
VAR_042495 commonName VAR_042495
VAR_042495 disease not phenotype-associated
VAR_042496 commonName VAR_042496
VAR_042496 disease not phenotype-associated
VAR_042497 commonName VAR_042497
VAR_042497 disease not phenotype-associated
VAR_042498 commonName VAR_042498
VAR_042498 disease not phenotype-associated
VAR_042499 commonName VAR_042499
VAR_042499 disease not phenotype-associated
VAR_042500 commonName VAR_042500
VAR_042500 disease not phenotype-associated
VAR_042501 commonName VAR_042501
VAR_042501 disease not phenotype-associated
VAR_042502 commonName VAR_042502
VAR_042502 disease not phenotype-associated
VAR_042503 commonName VAR_042503
VAR_042503 disease not phenotype-associated
VAR_042504 commonName VAR_042504
VAR_042504 disease not phenotype-associated
VAR_042505 commonName VAR_042505
VAR_042505 disease not phenotype-associated
VAR_042506 commonName VAR_042506
VAR_042506 disease phenotype-associated
VAR_042506 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_042507 commonName VAR_042507
VAR_042507 disease phenotype-associated
VAR_042507 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_042508 commonName VAR_042508
VAR_042508 disease phenotype-associated
VAR_042508 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_042509 commonName VAR_042509
VAR_042510 commonName VAR_042510
VAR_042510 disease phenotype-associated
VAR_042510 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_042511 commonName VAR_042511
VAR_042511 disease phenotype-associated
VAR_042511 phenoCommon Hemochromatosis (HFE) [MIM:235200]
VAR_042512 commonName VAR_042512
VAR_042512 disease phenotype-associated
VAR_042512 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313]
VAR_042513 commonName VAR_042513
VAR_042513 disease phenotype-associated
VAR_042513 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313]
VAR_042514 commonName VAR_042514
VAR_042514 disease phenotype-associated
VAR_042514 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313]
VAR_042515 commonName VAR_042515
VAR_042515 disease phenotype-associated
VAR_042515 phenoCommon Hemochromatosis type 3 (HFE3) [MIM:604250]
VAR_042516 commonName VAR_042516
VAR_042516 disease not phenotype-associated
VAR_042518 commonName VAR_042518
VAR_042518 disease not phenotype-associated
VAR_042519 commonName VAR_042519
VAR_042519 disease not phenotype-associated
VAR_042520 commonName VAR_042520
VAR_042520 disease not phenotype-associated
VAR_042521 commonName VAR_042521
VAR_042521 disease not phenotype-associated
VAR_042522 commonName VAR_042522
VAR_042522 disease not phenotype-associated
VAR_042523 commonName VAR_042523
VAR_042523 disease not phenotype-associated
VAR_042524 commonName VAR_042524
VAR_042524 disease not phenotype-associated
VAR_042525 commonName VAR_042525
VAR_042525 disease not phenotype-associated
VAR_042526 commonName VAR_042526
VAR_042526 disease not phenotype-associated
VAR_042527 commonName VAR_042527
VAR_042527 disease not phenotype-associated
VAR_042528 commonName VAR_042528
VAR_042528 disease not phenotype-associated
VAR_042529 commonName VAR_042529
VAR_042529 disease not phenotype-associated
VAR_042530 commonName VAR_042530
VAR_042530 disease not phenotype-associated
VAR_042531 commonName VAR_042531
VAR_042531 disease not phenotype-associated
VAR_042532 commonName VAR_042532
VAR_042532 disease not phenotype-associated
VAR_042533 commonName VAR_042533
VAR_042533 disease not phenotype-associated
VAR_042534 commonName VAR_042534
VAR_042534 disease not phenotype-associated
VAR_042535 commonName VAR_042535
VAR_042535 disease not phenotype-associated
VAR_042536 commonName VAR_042536
VAR_042536 disease not phenotype-associated
VAR_042537 commonName VAR_042537
VAR_042537 disease not phenotype-associated
VAR_042538 commonName VAR_042538
VAR_042538 disease not phenotype-associated
VAR_042539 commonName VAR_042539
VAR_042539 disease not phenotype-associated
VAR_042542 commonName VAR_042542
VAR_042542 disease not phenotype-associated
VAR_042543 commonName VAR_042543
VAR_042543 disease not phenotype-associated
VAR_042544 commonName VAR_042544
VAR_042544 disease not phenotype-associated
VAR_042545 commonName VAR_042545
VAR_042545 disease not phenotype-associated
VAR_042546 commonName VAR_042546
VAR_042546 disease not phenotype-associated
VAR_042547 commonName VAR_042547
VAR_042547 disease not phenotype-associated
VAR_042548 commonName VAR_042548
VAR_042548 disease not phenotype-associated
VAR_042549 commonName VAR_042549
VAR_042549 disease not phenotype-associated
VAR_042551 commonName VAR_042551
VAR_042551 disease not phenotype-associated
VAR_042552 commonName VAR_042552
VAR_042552 disease not phenotype-associated
VAR_042553 commonName VAR_042553
VAR_042553 disease not phenotype-associated
VAR_042554 commonName VAR_042554
VAR_042554 disease not phenotype-associated
VAR_042555 commonName VAR_042555
VAR_042555 disease not phenotype-associated
VAR_042556 commonName VAR_042556
VAR_042556 disease not phenotype-associated
VAR_042557 commonName VAR_042557
VAR_042557 disease not phenotype-associated
VAR_042558 commonName VAR_042558
VAR_042558 disease not phenotype-associated
VAR_042559 commonName VAR_042559
VAR_042559 disease not phenotype-associated
VAR_042560 commonName VAR_042560
VAR_042560 disease not phenotype-associated
VAR_042561 commonName VAR_042561
VAR_042561 disease not phenotype-associated
VAR_042562 commonName VAR_042562
VAR_042562 disease not phenotype-associated
VAR_042563 commonName VAR_042563
VAR_042563 disease not phenotype-associated
VAR_042564 commonName VAR_042564
VAR_042564 disease not phenotype-associated
VAR_042565 commonName VAR_042565
VAR_042565 disease not phenotype-associated
VAR_042566 commonName VAR_042566
VAR_042566 disease not phenotype-associated
VAR_042567 commonName VAR_042567
VAR_042567 disease not phenotype-associated
VAR_042570 commonName VAR_042570
VAR_042570 disease not phenotype-associated
VAR_042571 commonName VAR_042571
VAR_042571 disease not phenotype-associated
VAR_042572 commonName VAR_042572
VAR_042572 disease not phenotype-associated
VAR_042574 commonName VAR_042574
VAR_042574 disease not phenotype-associated
VAR_042576 commonName VAR_042576
VAR_042576 disease not phenotype-associated
VAR_042577 commonName VAR_042577
VAR_042577 disease not phenotype-associated
VAR_042578 commonName VAR_042578
VAR_042578 disease not phenotype-associated
VAR_042580 commonName VAR_042580
VAR_042580 disease not phenotype-associated
VAR_042581 commonName VAR_042581
VAR_042581 disease not phenotype-associated
VAR_042582 commonName VAR_042582
VAR_042582 disease not phenotype-associated
VAR_042583 commonName VAR_042583
VAR_042583 disease not phenotype-associated
VAR_042600 commonName VAR_042600
VAR_042600 disease not phenotype-associated
VAR_042601 commonName VAR_042601
VAR_042601 disease not phenotype-associated
VAR_042602 commonName VAR_042602
VAR_042602 disease phenotype-associated
VAR_042602 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200]
VAR_042603 commonName VAR_042603
VAR_042603 disease phenotype-associated
VAR_042603 phenoCommon X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]
VAR_042605 commonName VAR_042605
VAR_042605 disease phenotype-associated
VAR_042605 phenoCommon X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]
VAR_042606 commonName VAR_042606
VAR_042606 disease phenotype-associated
VAR_042606 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042607 commonName VAR_042607
VAR_042607 disease phenotype-associated
VAR_042607 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042608 commonName VAR_042608
VAR_042608 disease phenotype-associated
VAR_042608 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042609 commonName VAR_042609
VAR_042609 disease phenotype-associated
VAR_042609 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042610 commonName VAR_042610
VAR_042610 disease phenotype-associated
VAR_042610 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042611 commonName VAR_042611
VAR_042611 disease phenotype-associated
VAR_042611 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042612 commonName VAR_042612
VAR_042612 disease phenotype-associated
VAR_042612 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042613 commonName VAR_042613
VAR_042613 disease not phenotype-associated
VAR_042614 commonName VAR_042614
VAR_042614 disease phenotype-associated
VAR_042614 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
VAR_042616 commonName VAR_042616
VAR_042616 disease not phenotype-associated
VAR_042617 commonName VAR_042617
VAR_042617 disease not phenotype-associated
VAR_042618 commonName VAR_042618
VAR_042618 disease not phenotype-associated
VAR_042619 commonName VAR_042619
VAR_042619 disease not phenotype-associated
VAR_042620 commonName VAR_042620
VAR_042620 disease not phenotype-associated
VAR_042621 commonName VAR_042621
VAR_042621 disease not phenotype-associated
VAR_042622 commonName VAR_042622
VAR_042622 disease not phenotype-associated
VAR_042623 commonName VAR_042623
VAR_042623 disease not phenotype-associated
VAR_042624 commonName VAR_042624
VAR_042624 disease not phenotype-associated
VAR_042625 commonName VAR_042625
VAR_042625 disease not phenotype-associated
VAR_042626 commonName VAR_042626
VAR_042626 disease not phenotype-associated
VAR_042627 commonName VAR_042627
VAR_042627 disease not phenotype-associated
VAR_042628 commonName VAR_042628
VAR_042628 disease not phenotype-associated
VAR_042629 commonName VAR_042629
VAR_042629 disease not phenotype-associated
VAR_042630 commonName VAR_042630
VAR_042630 disease not phenotype-associated
VAR_042631 commonName VAR_042631
VAR_042631 disease not phenotype-associated
VAR_042643 comment A breast cancer sample
VAR_042643 commonName VAR_042643
VAR_042644 commonName VAR_042644
VAR_042644 disease not phenotype-associated
VAR_042645 commonName VAR_042645
VAR_042645 disease not phenotype-associated
VAR_042646 commonName VAR_042646
VAR_042646 disease not phenotype-associated
VAR_042647 commonName VAR_042647
VAR_042647 disease not phenotype-associated
VAR_042648 commonName VAR_042648
VAR_042648 disease not phenotype-associated
VAR_042649 commonName VAR_042649
VAR_042649 disease not phenotype-associated
VAR_042650 commonName VAR_042650
VAR_042650 disease not phenotype-associated
VAR_042652 commonName VAR_042652
VAR_042652 disease not phenotype-associated
VAR_042653 commonName VAR_042653
VAR_042653 disease not phenotype-associated
VAR_042654 commonName VAR_042654
VAR_042654 disease not phenotype-associated
VAR_042655 commonName VAR_042655
VAR_042655 disease not phenotype-associated
VAR_042656 commonName VAR_042656
VAR_042656 disease not phenotype-associated
VAR_042657 commonName VAR_042657
VAR_042657 disease not phenotype-associated
VAR_042659 commonName VAR_042659
VAR_042660 commonName VAR_042660
VAR_042661 commonName VAR_042661
VAR_042661 disease not phenotype-associated
VAR_042662 commonName VAR_042662
VAR_042662 disease not phenotype-associated
VAR_042663 commonName VAR_042663
VAR_042665 commonName VAR_042665
VAR_042665 disease not phenotype-associated
VAR_042666 commonName VAR_042666
VAR_042666 disease phenotype-associated
VAR_042666 phenoCommon Incontinentia pigmenti (IP) [MIM:308300]
VAR_042667 commonName VAR_042667
VAR_042667 disease not phenotype-associated
VAR_042668 commonName VAR_042668
VAR_042668 disease not phenotype-associated
VAR_042669 commonName VAR_042669
VAR_042669 disease not phenotype-associated
VAR_042670 commonName VAR_042670
VAR_042670 disease not phenotype-associated
VAR_042671 commonName VAR_042671
VAR_042671 disease not phenotype-associated
VAR_042676 commonName VAR_042676
VAR_042676 disease not phenotype-associated
VAR_042679 commonName VAR_042679
VAR_042679 disease not phenotype-associated
VAR_042684 commonName VAR_042684
VAR_042684 disease not phenotype-associated
VAR_042685 commonName VAR_042685
VAR_042685 disease not phenotype-associated
VAR_042686 commonName VAR_042686
VAR_042686 disease not phenotype-associated
VAR_042687 commonName VAR_042687
VAR_042687 disease not phenotype-associated
VAR_042688 comment A breast cancer sample
VAR_042688 commonName VAR_042688
VAR_042689 comment A breast cancer sample
VAR_042689 commonName VAR_042689
VAR_042690 comment A colorectal cancer sample
VAR_042690 commonName VAR_042690
VAR_042691 commonName VAR_042691
VAR_042691 disease not phenotype-associated
VAR_042693 commonName VAR_042693
VAR_042693 disease not phenotype-associated
VAR_042694 commonName VAR_042694
VAR_042694 disease not phenotype-associated
VAR_042695 commonName VAR_042695
VAR_042695 disease not phenotype-associated
VAR_042696 commonName VAR_042696
VAR_042696 disease not phenotype-associated
VAR_042698 commonName VAR_042698
VAR_042698 disease not phenotype-associated
VAR_042699 commonName VAR_042699
VAR_042699 disease not phenotype-associated
VAR_042700 commonName VAR_042700
VAR_042700 disease phenotype-associated
VAR_042700 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_042701 commonName VAR_042701
VAR_042701 disease phenotype-associated
VAR_042701 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_042702 commonName VAR_042702
VAR_042702 disease phenotype-associated
VAR_042702 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_042703 commonName VAR_042703
VAR_042703 disease not phenotype-associated
VAR_042704 commonName VAR_042704
VAR_042704 disease not phenotype-associated
VAR_042705 commonName VAR_042705
VAR_042706 commonName VAR_042706
VAR_042707 commonName VAR_042707
VAR_042710 commonName VAR_042710
VAR_042710 disease not phenotype-associated
VAR_042711 comment A breast cancer sample
VAR_042711 commonName VAR_042711
VAR_042712 commonName VAR_042712
VAR_042712 disease not phenotype-associated
VAR_042713 commonName VAR_042713
VAR_042713 disease not phenotype-associated
VAR_042714 commonName VAR_042714
VAR_042714 disease not phenotype-associated
VAR_042715 commonName VAR_042715
VAR_042715 disease not phenotype-associated
VAR_042716 commonName VAR_042716
VAR_042716 disease not phenotype-associated
VAR_042717 commonName VAR_042717
VAR_042717 disease not phenotype-associated
VAR_042718 commonName VAR_042718
VAR_042718 disease not phenotype-associated
VAR_042719 commonName VAR_042719
VAR_042719 disease not phenotype-associated
VAR_042720 comment A colorectal cancer sample
VAR_042720 commonName VAR_042720
VAR_042721 commonName VAR_042721
VAR_042721 disease not phenotype-associated
VAR_042722 commonName VAR_042722
VAR_042722 disease not phenotype-associated
VAR_042723 commonName VAR_042723
VAR_042723 disease not phenotype-associated
VAR_042724 commonName VAR_042724
VAR_042724 disease not phenotype-associated
VAR_042725 commonName VAR_042725
VAR_042725 disease not phenotype-associated
VAR_042726 commonName VAR_042726
VAR_042726 disease not phenotype-associated
VAR_042727 commonName VAR_042727
VAR_042727 disease not phenotype-associated
VAR_042728 commonName VAR_042728
VAR_042728 disease not phenotype-associated
VAR_042729 commonName VAR_042729
VAR_042729 disease not phenotype-associated
VAR_042730 commonName VAR_042730
VAR_042730 disease not phenotype-associated
VAR_042731 commonName VAR_042731
VAR_042731 disease not phenotype-associated
VAR_042732 commonName VAR_042732
VAR_042732 disease not phenotype-associated
VAR_042733 commonName VAR_042733
VAR_042733 disease phenotype-associated
VAR_042733 phenoCommon Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719]
VAR_042734 commonName VAR_042734
VAR_042734 disease phenotype-associated
VAR_042734 phenoCommon Lipoprotein glomerulopathy (LPG) [MIM:611771]
VAR_042735 commonName VAR_042735
VAR_042735 disease phenotype-associated
VAR_042735 phenoCommon Lipoprotein glomerulopathy (LPG) [MIM:611771]
VAR_042736 commonName VAR_042736
VAR_042736 disease not phenotype-associated
VAR_042737 commonName VAR_042737
VAR_042737 disease not phenotype-associated
VAR_042738 commonName VAR_042738
VAR_042738 disease not phenotype-associated
VAR_042739 commonName VAR_042739
VAR_042739 disease not phenotype-associated
VAR_042745 commonName VAR_042745
VAR_042745 disease phenotype-associated
VAR_042745 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_042746 commonName VAR_042746
VAR_042746 disease phenotype-associated
VAR_042746 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690]
VAR_042750 commonName VAR_042750
VAR_042750 disease not phenotype-associated
VAR_042751 commonName VAR_042751
VAR_042751 disease not phenotype-associated
VAR_042752 commonName VAR_042752
VAR_042752 disease not phenotype-associated
VAR_042753 commonName VAR_042753
VAR_042753 disease not phenotype-associated
VAR_042754 comment A breast cancer sample
VAR_042754 commonName VAR_042754
VAR_042755 commonName VAR_042755
VAR_042755 disease not phenotype-associated
VAR_042756 commonName VAR_042756
VAR_042756 disease not phenotype-associated
VAR_042757 commonName VAR_042757
VAR_042757 disease not phenotype-associated
VAR_042758 commonName VAR_042758
VAR_042758 disease not phenotype-associated
VAR_042759 commonName VAR_042759
VAR_042759 disease not phenotype-associated
VAR_042760 commonName VAR_042760
VAR_042760 disease not phenotype-associated
VAR_042761 commonName VAR_042761
VAR_042761 disease not phenotype-associated
VAR_042762 commonName VAR_042762
VAR_042762 disease phenotype-associated
VAR_042762 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042763 commonName VAR_042763
VAR_042763 disease phenotype-associated
VAR_042763 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042764 commonName VAR_042764
VAR_042764 disease phenotype-associated
VAR_042764 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042765 commonName VAR_042765
VAR_042765 disease phenotype-associated
VAR_042765 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042766 commonName VAR_042766
VAR_042766 disease phenotype-associated
VAR_042766 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042767 commonName VAR_042767
VAR_042767 disease phenotype-associated
VAR_042767 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042768 commonName VAR_042768
VAR_042768 disease phenotype-associated
VAR_042768 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042769 commonName VAR_042769
VAR_042769 disease phenotype-associated
VAR_042769 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042770 commonName VAR_042770
VAR_042770 disease phenotype-associated
VAR_042770 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042771 commonName VAR_042771
VAR_042771 disease phenotype-associated
VAR_042771 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042772 commonName VAR_042772
VAR_042772 disease phenotype-associated
VAR_042772 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042773 commonName VAR_042773
VAR_042773 disease phenotype-associated
VAR_042773 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042774 commonName VAR_042774
VAR_042774 disease phenotype-associated
VAR_042774 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042775 commonName VAR_042775
VAR_042775 disease phenotype-associated
VAR_042775 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042776 commonName VAR_042776
VAR_042776 disease phenotype-associated
VAR_042776 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042777 commonName VAR_042777
VAR_042777 disease phenotype-associated
VAR_042777 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042778 commonName VAR_042778
VAR_042778 disease phenotype-associated
VAR_042778 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042779 commonName VAR_042779
VAR_042779 disease phenotype-associated
VAR_042779 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042780 commonName VAR_042780
VAR_042780 disease phenotype-associated
VAR_042780 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042781 commonName VAR_042781
VAR_042781 disease phenotype-associated
VAR_042781 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042782 commonName VAR_042782
VAR_042782 disease phenotype-associated
VAR_042782 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042783 commonName VAR_042783
VAR_042783 disease phenotype-associated
VAR_042783 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042784 commonName VAR_042784
VAR_042784 disease phenotype-associated
VAR_042784 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042785 commonName VAR_042785
VAR_042785 disease phenotype-associated
VAR_042785 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500]
VAR_042786 commonName VAR_042786
VAR_042786 disease phenotype-associated
VAR_042786 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042787 commonName VAR_042787
VAR_042787 disease phenotype-associated
VAR_042787 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042788 commonName VAR_042788
VAR_042788 disease phenotype-associated
VAR_042788 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042789 commonName VAR_042789
VAR_042789 disease phenotype-associated
VAR_042789 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042790 commonName VAR_042790
VAR_042790 disease phenotype-associated
VAR_042790 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042791 commonName VAR_042791
VAR_042791 disease phenotype-associated
VAR_042791 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042792 commonName VAR_042792
VAR_042792 disease phenotype-associated
VAR_042792 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042793 commonName VAR_042793
VAR_042793 disease phenotype-associated
VAR_042793 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042794 commonName VAR_042794
VAR_042794 disease phenotype-associated
VAR_042794 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042795 commonName VAR_042795
VAR_042795 disease phenotype-associated
VAR_042795 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042796 commonName VAR_042796
VAR_042796 disease phenotype-associated
VAR_042796 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042797 commonName VAR_042797
VAR_042797 disease phenotype-associated
VAR_042797 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042798 commonName VAR_042798
VAR_042798 disease phenotype-associated
VAR_042798 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042799 commonName VAR_042799
VAR_042799 disease phenotype-associated
VAR_042799 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042800 commonName VAR_042800
VAR_042800 disease phenotype-associated
VAR_042800 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042801 commonName VAR_042801
VAR_042801 disease phenotype-associated
VAR_042801 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042802 commonName VAR_042802
VAR_042802 disease phenotype-associated
VAR_042802 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042803 commonName VAR_042803
VAR_042803 disease phenotype-associated
VAR_042803 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042804 commonName VAR_042804
VAR_042804 disease phenotype-associated
VAR_042804 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042805 commonName VAR_042805
VAR_042805 disease phenotype-associated
VAR_042805 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042806 commonName VAR_042806
VAR_042806 disease phenotype-associated
VAR_042806 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042807 commonName VAR_042807
VAR_042807 disease phenotype-associated
VAR_042807 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042809 commonName VAR_042809
VAR_042809 disease phenotype-associated
VAR_042809 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042810 commonName VAR_042810
VAR_042810 disease phenotype-associated
VAR_042810 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042811 commonName VAR_042811
VAR_042811 disease phenotype-associated
VAR_042811 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042812 commonName VAR_042812
VAR_042812 disease phenotype-associated
VAR_042812 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042813 commonName VAR_042813
VAR_042813 disease phenotype-associated
VAR_042813 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042814 commonName VAR_042814
VAR_042814 disease phenotype-associated
VAR_042814 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042815 commonName VAR_042815
VAR_042815 disease phenotype-associated
VAR_042815 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042816 commonName VAR_042816
VAR_042816 disease phenotype-associated
VAR_042816 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042817 commonName VAR_042817
VAR_042817 disease phenotype-associated
VAR_042817 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042818 commonName VAR_042818
VAR_042818 disease phenotype-associated
VAR_042818 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042819 commonName VAR_042819
VAR_042819 disease phenotype-associated
VAR_042819 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042820 commonName VAR_042820
VAR_042820 disease phenotype-associated
VAR_042820 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042821 commonName VAR_042821
VAR_042821 disease phenotype-associated
VAR_042821 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042822 commonName VAR_042822
VAR_042822 disease phenotype-associated
VAR_042822 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042823 commonName VAR_042823
VAR_042823 disease phenotype-associated
VAR_042823 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042824 commonName VAR_042824
VAR_042824 disease phenotype-associated
VAR_042824 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042825 commonName VAR_042825
VAR_042825 disease phenotype-associated
VAR_042825 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042826 commonName VAR_042826
VAR_042826 disease phenotype-associated
VAR_042826 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042827 commonName VAR_042827
VAR_042827 disease phenotype-associated
VAR_042827 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042828 commonName VAR_042828
VAR_042828 disease phenotype-associated
VAR_042828 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042829 commonName VAR_042829
VAR_042829 disease not phenotype-associated
VAR_042830 commonName VAR_042830
VAR_042830 disease phenotype-associated
VAR_042830 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042831 commonName VAR_042831
VAR_042831 disease not phenotype-associated
VAR_042833 commonName VAR_042833
VAR_042833 disease phenotype-associated
VAR_042833 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_042834 commonName VAR_042834
VAR_042834 disease phenotype-associated
VAR_042834 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042836 commonName VAR_042836
VAR_042836 disease phenotype-associated
VAR_042836 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042837 commonName VAR_042837
VAR_042837 disease phenotype-associated
VAR_042837 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042838 commonName VAR_042838
VAR_042838 disease phenotype-associated
VAR_042838 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042839 commonName VAR_042839
VAR_042839 disease phenotype-associated
VAR_042839 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042840 commonName VAR_042840
VAR_042840 disease phenotype-associated
VAR_042840 phenoCommon Myopathy myosin storage (MYOMS) [MIM:608358]
VAR_042841 commonName VAR_042841
VAR_042841 disease not phenotype-associated
VAR_042842 commonName VAR_042842
VAR_042842 disease phenotype-associated
VAR_042842 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_042843 commonName VAR_042843
VAR_042843 disease not phenotype-associated
VAR_042844 commonName VAR_042844
VAR_042844 disease not phenotype-associated
VAR_042845 commonName VAR_042845
VAR_042845 disease not phenotype-associated
VAR_042846 commonName VAR_042846
VAR_042846 disease not phenotype-associated
VAR_042847 commonName VAR_042847
VAR_042847 disease not phenotype-associated
VAR_042848 commonName VAR_042848
VAR_042848 disease not phenotype-associated
VAR_042849 commonName VAR_042849
VAR_042849 disease not phenotype-associated
VAR_042850 commonName VAR_042850
VAR_042850 disease not phenotype-associated
VAR_042851 commonName VAR_042851
VAR_042851 disease not phenotype-associated
VAR_042852 commonName VAR_042852
VAR_042852 disease not phenotype-associated
VAR_042853 commonName VAR_042853
VAR_042853 disease not phenotype-associated
VAR_042854 commonName VAR_042854
VAR_042854 disease not phenotype-associated
VAR_042855 commonName VAR_042855
VAR_042855 disease not phenotype-associated
VAR_042856 commonName VAR_042856
VAR_042856 disease not phenotype-associated
VAR_042857 commonName VAR_042857
VAR_042857 disease not phenotype-associated
VAR_042858 commonName VAR_042858
VAR_042858 disease not phenotype-associated
VAR_042859 commonName VAR_042859
VAR_042859 disease not phenotype-associated
VAR_042860 commonName VAR_042860
VAR_042860 disease not phenotype-associated
VAR_042863 commonName VAR_042863
VAR_042863 disease not phenotype-associated
VAR_042864 commonName VAR_042864
VAR_042864 disease not phenotype-associated
VAR_042865 commonName VAR_042865
VAR_042865 disease not phenotype-associated
VAR_042866 commonName VAR_042866
VAR_042866 disease not phenotype-associated
VAR_042867 comment A colorectal cancer sample
VAR_042867 commonName VAR_042867
VAR_042868 commonName VAR_042868
VAR_042868 disease not phenotype-associated
VAR_042869 commonName VAR_042869
VAR_042869 disease not phenotype-associated
VAR_042870 commonName VAR_042870
VAR_042870 disease not phenotype-associated
VAR_042871 commonName VAR_042871
VAR_042871 disease not phenotype-associated
VAR_042872 commonName VAR_042872
VAR_042872 disease not phenotype-associated
VAR_042873 commonName VAR_042873
VAR_042873 disease not phenotype-associated
VAR_042874 commonName VAR_042874
VAR_042874 disease not phenotype-associated
VAR_042875 commonName VAR_042875
VAR_042875 disease not phenotype-associated
VAR_042876 commonName VAR_042876
VAR_042876 disease not phenotype-associated
VAR_042877 commonName VAR_042877
VAR_042877 disease not phenotype-associated
VAR_042886 commonName VAR_042886
VAR_042886 disease not phenotype-associated
VAR_042889 commonName VAR_042889
VAR_042889 disease not phenotype-associated
VAR_042890 commonName VAR_042890
VAR_042890 disease not phenotype-associated
VAR_042891 commonName VAR_042891
VAR_042891 disease not phenotype-associated
VAR_042892 commonName VAR_042892
VAR_042892 disease not phenotype-associated
VAR_042893 commonName VAR_042893
VAR_042893 disease not phenotype-associated
VAR_042894 commonName VAR_042894
VAR_042894 disease not phenotype-associated
VAR_042895 commonName VAR_042895
VAR_042895 disease not phenotype-associated
VAR_042896 commonName VAR_042896
VAR_042896 disease not phenotype-associated
VAR_042897 commonName VAR_042897
VAR_042897 disease not phenotype-associated
VAR_042898 commonName VAR_042898
VAR_042898 disease not phenotype-associated
VAR_042899 commonName VAR_042899
VAR_042899 disease not phenotype-associated
VAR_042900 commonName VAR_042900
VAR_042900 disease not phenotype-associated
VAR_042903 commonName VAR_042903
VAR_042903 disease not phenotype-associated
VAR_042904 commonName VAR_042904
VAR_042904 disease not phenotype-associated
VAR_042905 commonName VAR_042905
VAR_042905 disease not phenotype-associated
VAR_042907 commonName VAR_042907
VAR_042907 disease not phenotype-associated
VAR_042908 commonName VAR_042908
VAR_042908 disease not phenotype-associated
VAR_042909 commonName VAR_042909
VAR_042909 disease not phenotype-associated
VAR_042910 commonName VAR_042910
VAR_042910 disease not phenotype-associated
VAR_042911 comment A colorectal cancer sample
VAR_042911 commonName VAR_042911
VAR_042912 commonName VAR_042912
VAR_042912 disease not phenotype-associated
VAR_042913 commonName VAR_042913
VAR_042913 disease not phenotype-associated
VAR_042914 commonName VAR_042914
VAR_042914 disease not phenotype-associated
VAR_042915 commonName VAR_042915
VAR_042915 disease not phenotype-associated
VAR_042916 commonName VAR_042916
VAR_042916 disease not phenotype-associated
VAR_042917 commonName VAR_042917
VAR_042917 disease not phenotype-associated
VAR_042918 commonName VAR_042918
VAR_042918 disease not phenotype-associated
VAR_042919 commonName VAR_042919
VAR_042919 disease not phenotype-associated
VAR_042920 commonName VAR_042920
VAR_042920 disease not phenotype-associated
VAR_042921 commonName VAR_042921
VAR_042921 disease not phenotype-associated
VAR_042922 commonName VAR_042922
VAR_042922 disease not phenotype-associated
VAR_042923 commonName VAR_042923
VAR_042923 disease not phenotype-associated
VAR_042924 commonName VAR_042924
VAR_042924 disease not phenotype-associated
VAR_042925 commonName VAR_042925
VAR_042925 disease not phenotype-associated
VAR_042926 comment A breast cancer sample
VAR_042926 commonName VAR_042926
VAR_042927 commonName VAR_042927
VAR_042927 disease not phenotype-associated
VAR_042928 commonName VAR_042928
VAR_042928 disease not phenotype-associated
VAR_042929 commonName VAR_042929
VAR_042929 disease not phenotype-associated
VAR_042930 commonName VAR_042930
VAR_042930 disease not phenotype-associated
VAR_042931 commonName VAR_042931
VAR_042931 disease not phenotype-associated
VAR_042932 commonName VAR_042932
VAR_042932 disease not phenotype-associated
VAR_042933 commonName VAR_042933
VAR_042933 disease not phenotype-associated
VAR_042934 commonName VAR_042934
VAR_042934 disease not phenotype-associated
VAR_042936 commonName VAR_042936
VAR_042936 disease not phenotype-associated
VAR_042938 commonName VAR_042938
VAR_042938 disease not phenotype-associated
VAR_042939 commonName VAR_042939
VAR_042939 disease phenotype-associated
VAR_042939 phenoCommon Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]
VAR_042941 commonName VAR_042941
VAR_042941 disease not phenotype-associated
VAR_042942 commonName VAR_042942
VAR_042942 disease not phenotype-associated
VAR_042943 commonName VAR_042943
VAR_042943 disease not phenotype-associated
VAR_042948 commonName VAR_042948
VAR_042948 disease not phenotype-associated
VAR_042953 commonName VAR_042953
VAR_042953 disease not phenotype-associated
VAR_042954 commonName VAR_042954
VAR_042954 disease not phenotype-associated
VAR_042955 commonName VAR_042955
VAR_042955 disease not phenotype-associated
VAR_042959 commonName VAR_042959
VAR_042959 disease not phenotype-associated
VAR_042960 commonName VAR_042960
VAR_042960 disease not phenotype-associated
VAR_042961 commonName VAR_042961
VAR_042961 disease not phenotype-associated
VAR_042962 commonName VAR_042962
VAR_042962 disease not phenotype-associated
VAR_042964 commonName VAR_042964
VAR_042964 disease not phenotype-associated
VAR_042965 commonName VAR_042965
VAR_042965 disease not phenotype-associated
VAR_042966 commonName VAR_042966
VAR_042966 disease not phenotype-associated
VAR_042967 commonName VAR_042967
VAR_042967 disease not phenotype-associated
VAR_042968 commonName VAR_042968
VAR_042968 disease not phenotype-associated
VAR_042969 commonName VAR_042969
VAR_042969 disease not phenotype-associated
VAR_042972 commonName VAR_042972
VAR_042972 disease not phenotype-associated
VAR_042975 commonName VAR_042975
VAR_042975 disease not phenotype-associated
VAR_042976 comment A breast cancer sample
VAR_042976 commonName VAR_042976
VAR_042977 commonName VAR_042977
VAR_042977 disease not phenotype-associated
VAR_042979 commonName VAR_042979
VAR_042979 disease not phenotype-associated
VAR_042980 commonName VAR_042980
VAR_042980 disease not phenotype-associated
VAR_042981 commonName VAR_042981
VAR_042981 disease not phenotype-associated
VAR_042982 commonName VAR_042982
VAR_042982 disease not phenotype-associated
VAR_042983 commonName VAR_042983
VAR_042983 disease not phenotype-associated
VAR_042984 commonName VAR_042984
VAR_042984 disease not phenotype-associated
VAR_042985 commonName VAR_042985
VAR_042985 disease not phenotype-associated
VAR_042986 commonName VAR_042986
VAR_042986 disease not phenotype-associated
VAR_042987 commonName VAR_042987
VAR_042987 disease not phenotype-associated
VAR_042988 commonName VAR_042988
VAR_042988 disease not phenotype-associated
VAR_042989 commonName VAR_042989
VAR_042989 disease not phenotype-associated
VAR_042990 commonName VAR_042990
VAR_042990 disease not phenotype-associated
VAR_042991 commonName VAR_042991
VAR_042991 disease not phenotype-associated
VAR_042992 commonName VAR_042992
VAR_042992 disease not phenotype-associated
VAR_042994 commonName VAR_042994
VAR_042994 disease not phenotype-associated
VAR_042998 commonName VAR_042998
VAR_042998 disease not phenotype-associated
VAR_042999 commonName VAR_042999
VAR_042999 disease not phenotype-associated
VAR_043000 commonName VAR_043000
VAR_043000 disease not phenotype-associated
VAR_043001 comment A colorectal cancer sample
VAR_043001 commonName VAR_043001
VAR_043002 commonName VAR_043002
VAR_043002 disease not phenotype-associated
VAR_043003 commonName VAR_043003
VAR_043003 disease not phenotype-associated
VAR_043004 comment A colorectal cancer sample
VAR_043004 commonName VAR_043004
VAR_043005 commonName VAR_043005
VAR_043005 disease not phenotype-associated
VAR_043006 commonName VAR_043006
VAR_043006 disease not phenotype-associated
VAR_043007 commonName VAR_043007
VAR_043007 disease not phenotype-associated
VAR_043008 commonName VAR_043008
VAR_043008 disease not phenotype-associated
VAR_043009 commonName VAR_043009
VAR_043009 disease not phenotype-associated
VAR_043010 commonName VAR_043010
VAR_043010 disease not phenotype-associated
VAR_043011 commonName VAR_043011
VAR_043011 disease phenotype-associated
VAR_043011 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043012 commonName VAR_043012
VAR_043012 disease phenotype-associated
VAR_043012 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043013 commonName VAR_043013
VAR_043013 disease phenotype-associated
VAR_043013 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043014 commonName VAR_043014
VAR_043014 disease phenotype-associated
VAR_043014 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043015 commonName VAR_043015
VAR_043015 disease phenotype-associated
VAR_043015 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043016 commonName VAR_043016
VAR_043016 disease phenotype-associated
VAR_043016 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043017 commonName VAR_043017
VAR_043017 disease phenotype-associated
VAR_043017 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_043018 commonName VAR_043018
VAR_043018 disease not phenotype-associated
VAR_043019 commonName VAR_043019
VAR_043019 disease not phenotype-associated
VAR_043020 commonName VAR_043020
VAR_043020 disease not phenotype-associated
VAR_043021 commonName VAR_043021
VAR_043021 disease not phenotype-associated
VAR_043022 commonName VAR_043022
VAR_043022 disease not phenotype-associated
VAR_043023 commonName VAR_043023
VAR_043023 disease not phenotype-associated
VAR_043024 commonName VAR_043024
VAR_043024 disease not phenotype-associated
VAR_043025 commonName VAR_043025
VAR_043025 disease not phenotype-associated
VAR_043026 commonName VAR_043026
VAR_043026 disease not phenotype-associated
VAR_043027 commonName VAR_043027
VAR_043027 disease not phenotype-associated
VAR_043028 commonName VAR_043028
VAR_043028 disease not phenotype-associated
VAR_043033 commonName VAR_043033
VAR_043033 disease not phenotype-associated
VAR_043034 commonName VAR_043034
VAR_043034 disease not phenotype-associated
VAR_043035 commonName VAR_043035
VAR_043035 disease not phenotype-associated
VAR_043036 commonName VAR_043036
VAR_043036 disease not phenotype-associated
VAR_043037 commonName VAR_043037
VAR_043037 disease not phenotype-associated
VAR_043038 commonName VAR_043038
VAR_043038 disease not phenotype-associated
VAR_043039 commonName VAR_043039
VAR_043039 disease not phenotype-associated
VAR_043041 commonName VAR_043041
VAR_043041 disease not phenotype-associated
VAR_043042 commonName VAR_043042
VAR_043042 disease not phenotype-associated
VAR_043043 commonName VAR_043043
VAR_043043 disease not phenotype-associated
VAR_043044 commonName VAR_043044
VAR_043044 disease phenotype-associated
VAR_043044 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_043045 commonName VAR_043045
VAR_043046 commonName VAR_043046
VAR_043046 disease phenotype-associated
VAR_043046 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043047 commonName VAR_043047
VAR_043047 disease phenotype-associated
VAR_043047 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_043048 commonName VAR_043048
VAR_043048 disease not phenotype-associated
VAR_043049 commonName VAR_043049
VAR_043049 disease phenotype-associated
VAR_043049 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043050 commonName VAR_043050
VAR_043050 disease phenotype-associated
VAR_043050 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043051 commonName VAR_043051
VAR_043051 disease not phenotype-associated
VAR_043052 commonName VAR_043052
VAR_043052 disease not phenotype-associated
VAR_043053 commonName VAR_043053
VAR_043053 disease phenotype-associated
VAR_043053 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043054 commonName VAR_043054
VAR_043054 disease phenotype-associated
VAR_043054 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043055 commonName VAR_043055
VAR_043055 disease not phenotype-associated
VAR_043056 commonName VAR_043056
VAR_043056 disease phenotype-associated
VAR_043056 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043057 commonName VAR_043057
VAR_043057 disease phenotype-associated
VAR_043057 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043058 commonName VAR_043058
VAR_043058 disease phenotype-associated
VAR_043058 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043059 commonName VAR_043059
VAR_043059 disease phenotype-associated
VAR_043059 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043061 commonName VAR_043061
VAR_043061 disease phenotype-associated
VAR_043061 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043062 commonName VAR_043062
VAR_043062 disease not phenotype-associated
VAR_043063 commonName VAR_043063
VAR_043063 disease phenotype-associated
VAR_043063 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043064 commonName VAR_043064
VAR_043064 disease phenotype-associated
VAR_043064 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043065 commonName VAR_043065
VAR_043065 disease phenotype-associated
VAR_043065 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043066 commonName VAR_043066
VAR_043066 disease not phenotype-associated
VAR_043067 commonName VAR_043067
VAR_043067 disease phenotype-associated
VAR_043067 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043068 commonName VAR_043068
VAR_043068 disease phenotype-associated
VAR_043068 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
VAR_043069 commonName VAR_043069
VAR_043069 disease phenotype-associated
VAR_043069 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043070 commonName VAR_043070
VAR_043070 disease not phenotype-associated
VAR_043071 commonName VAR_043071
VAR_043071 disease phenotype-associated
VAR_043071 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043072 commonName VAR_043072
VAR_043072 disease phenotype-associated
VAR_043072 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_043073 commonName VAR_043073
VAR_043073 disease phenotype-associated
VAR_043073 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
VAR_043074 commonName VAR_043074
VAR_043074 disease not phenotype-associated
VAR_043075 commonName VAR_043075
VAR_043076 commonName VAR_043076
VAR_043078 commonName VAR_043078
VAR_043078 disease not phenotype-associated
VAR_043079 commonName VAR_043079
VAR_043079 disease not phenotype-associated
VAR_043080 commonName VAR_043080
VAR_043080 disease phenotype-associated
VAR_043080 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043081 commonName VAR_043081
VAR_043081 disease phenotype-associated
VAR_043081 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_043082 commonName VAR_043082
VAR_043082 disease phenotype-associated
VAR_043082 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_043083 commonName VAR_043083
VAR_043083 disease phenotype-associated
VAR_043083 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_043084 commonName VAR_043084
VAR_043084 disease phenotype-associated
VAR_043084 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043085 commonName VAR_043085
VAR_043085 disease not phenotype-associated
VAR_043086 commonName VAR_043086
VAR_043086 disease phenotype-associated
VAR_043086 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043087 commonName VAR_043087
VAR_043087 disease phenotype-associated
VAR_043087 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043088 commonName VAR_043088
VAR_043088 disease phenotype-associated
VAR_043088 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043089 commonName VAR_043089
VAR_043089 disease not phenotype-associated
VAR_043090 commonName VAR_043090
VAR_043090 disease not phenotype-associated
VAR_043091 commonName VAR_043091
VAR_043091 disease phenotype-associated
VAR_043091 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043092 commonName VAR_043092
VAR_043092 disease phenotype-associated
VAR_043092 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043093 commonName VAR_043093
VAR_043093 disease phenotype-associated
VAR_043093 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043094 commonName VAR_043094
VAR_043094 disease phenotype-associated
VAR_043094 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043095 commonName VAR_043095
VAR_043095 disease not phenotype-associated
VAR_043096 commonName VAR_043096
VAR_043096 disease phenotype-associated
VAR_043096 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_043097 commonName VAR_043097
VAR_043097 disease phenotype-associated
VAR_043097 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043098 commonName VAR_043098
VAR_043098 disease not phenotype-associated
VAR_043099 commonName VAR_043099
VAR_043099 disease phenotype-associated
VAR_043099 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
VAR_043100 commonName VAR_043100
VAR_043101 commonName VAR_043101
VAR_043101 disease not phenotype-associated
VAR_043102 commonName VAR_043102
VAR_043102 disease phenotype-associated
VAR_043102 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803]
VAR_043103 commonName VAR_043103
VAR_043103 disease phenotype-associated
VAR_043103 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
VAR_043104 commonName VAR_043104
VAR_043106 commonName VAR_043106
VAR_043106 disease phenotype-associated
VAR_043106 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043107 commonName VAR_043107
VAR_043107 disease phenotype-associated
VAR_043107 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043108 commonName VAR_043108
VAR_043108 disease phenotype-associated
VAR_043108 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043109 commonName VAR_043109
VAR_043109 disease phenotype-associated
VAR_043109 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043110 commonName VAR_043110
VAR_043110 disease phenotype-associated
VAR_043110 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043111 commonName VAR_043111
VAR_043111 disease phenotype-associated
VAR_043111 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043112 commonName VAR_043112
VAR_043112 disease phenotype-associated
VAR_043112 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900]
VAR_043113 commonName VAR_043113
VAR_043113 disease phenotype-associated
VAR_043113 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_043114 commonName VAR_043114
VAR_043114 disease phenotype-associated
VAR_043114 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_043115 commonName VAR_043115
VAR_043115 disease not phenotype-associated
VAR_043116 commonName VAR_043116
VAR_043116 disease not phenotype-associated
VAR_043117 commonName VAR_043117
VAR_043117 disease not phenotype-associated
VAR_043118 commonName VAR_043118
VAR_043118 disease not phenotype-associated
VAR_043119 commonName VAR_043119
VAR_043119 disease not phenotype-associated
VAR_043120 commonName VAR_043120
VAR_043120 disease not phenotype-associated
VAR_043121 commonName VAR_043121
VAR_043121 disease not phenotype-associated
VAR_043122 commonName VAR_043122
VAR_043122 disease not phenotype-associated
VAR_043123 commonName VAR_043123
VAR_043123 disease not phenotype-associated
VAR_043124 commonName VAR_043124
VAR_043124 disease not phenotype-associated
VAR_043126 commonName VAR_043126
VAR_043126 disease not phenotype-associated
VAR_043127 commonName VAR_043127
VAR_043127 disease not phenotype-associated
VAR_043128 commonName VAR_043128
VAR_043128 disease not phenotype-associated
VAR_043129 commonName VAR_043129
VAR_043129 disease not phenotype-associated
VAR_043130 commonName VAR_043130
VAR_043130 disease not phenotype-associated
VAR_043133 commonName VAR_043133
VAR_043133 disease not phenotype-associated
VAR_043134 commonName VAR_043134
VAR_043134 disease not phenotype-associated
VAR_043135 commonName VAR_043135
VAR_043135 disease not phenotype-associated
VAR_043136 commonName VAR_043136
VAR_043136 disease not phenotype-associated
VAR_043137 commonName VAR_043137
VAR_043137 disease not phenotype-associated
VAR_043138 commonName VAR_043138
VAR_043138 disease not phenotype-associated
VAR_043139 commonName VAR_043139
VAR_043139 disease not phenotype-associated
VAR_043140 commonName VAR_043140
VAR_043140 disease not phenotype-associated
VAR_043141 commonName VAR_043141
VAR_043141 disease not phenotype-associated
VAR_043142 commonName VAR_043142
VAR_043142 disease not phenotype-associated
VAR_043143 commonName VAR_043143
VAR_043143 disease not phenotype-associated
VAR_043144 commonName VAR_043144
VAR_043144 disease not phenotype-associated
VAR_043145 commonName VAR_043145
VAR_043145 disease not phenotype-associated
VAR_043146 commonName VAR_043146
VAR_043146 disease not phenotype-associated
VAR_043147 commonName VAR_043147
VAR_043147 disease not phenotype-associated
VAR_043148 commonName VAR_043148
VAR_043148 disease not phenotype-associated
VAR_043149 comment A breast cancer sample
VAR_043149 commonName VAR_043149
VAR_043150 commonName VAR_043150
VAR_043150 disease not phenotype-associated
VAR_043151 commonName VAR_043151
VAR_043151 disease phenotype-associated
VAR_043151 phenoCommon Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060]
VAR_043152 commonName VAR_043152
VAR_043152 disease not phenotype-associated
VAR_043153 commonName VAR_043153
VAR_043153 disease not phenotype-associated
VAR_043154 commonName VAR_043154
VAR_043155 commonName VAR_043155
VAR_043156 commonName VAR_043156
VAR_043156 disease not phenotype-associated
VAR_043157 commonName VAR_043157
VAR_043157 disease phenotype-associated
VAR_043157 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
VAR_043158 commonName VAR_043158
VAR_043159 commonName VAR_043159
VAR_043159 disease not phenotype-associated
VAR_043160 commonName VAR_043160
VAR_043160 disease not phenotype-associated
VAR_043161 commonName VAR_043161
VAR_043161 disease not phenotype-associated
VAR_043162 commonName VAR_043162
VAR_043162 disease not phenotype-associated
VAR_043163 commonName VAR_043163
VAR_043163 disease not phenotype-associated
VAR_043166 commonName VAR_043166
VAR_043166 disease not phenotype-associated
VAR_043167 commonName VAR_043167
VAR_043167 disease not phenotype-associated
VAR_043168 commonName VAR_043168
VAR_043168 disease not phenotype-associated
VAR_043169 commonName VAR_043169
VAR_043169 disease not phenotype-associated
VAR_043172 commonName VAR_043172
VAR_043172 disease phenotype-associated
VAR_043172 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043173 commonName VAR_043173
VAR_043173 disease phenotype-associated
VAR_043173 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043174 commonName VAR_043174
VAR_043174 disease phenotype-associated
VAR_043174 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043175 commonName VAR_043175
VAR_043175 disease phenotype-associated
VAR_043175 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043176 commonName VAR_043176
VAR_043176 disease phenotype-associated
VAR_043176 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043177 commonName VAR_043177
VAR_043177 disease not phenotype-associated
VAR_043178 commonName VAR_043178
VAR_043178 disease phenotype-associated
VAR_043178 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043179 commonName VAR_043179
VAR_043179 disease phenotype-associated
VAR_043179 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043180 commonName VAR_043180
VAR_043180 disease phenotype-associated
VAR_043180 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043181 commonName VAR_043181
VAR_043181 disease phenotype-associated
VAR_043181 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043182 commonName VAR_043182
VAR_043182 disease phenotype-associated
VAR_043182 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043183 commonName VAR_043183
VAR_043183 disease phenotype-associated
VAR_043183 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043184 commonName VAR_043184
VAR_043184 disease phenotype-associated
VAR_043184 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043185 commonName VAR_043185
VAR_043185 disease phenotype-associated
VAR_043185 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043186 commonName VAR_043186
VAR_043187 commonName VAR_043187
VAR_043187 disease phenotype-associated
VAR_043187 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043188 commonName VAR_043188
VAR_043188 disease phenotype-associated
VAR_043188 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043189 commonName VAR_043189
VAR_043189 disease not phenotype-associated
VAR_043190 commonName VAR_043190
VAR_043190 disease phenotype-associated
VAR_043190 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043191 commonName VAR_043191
VAR_043191 disease phenotype-associated
VAR_043191 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043192 commonName VAR_043192
VAR_043192 disease phenotype-associated
VAR_043192 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043193 commonName VAR_043193
VAR_043193 disease phenotype-associated
VAR_043193 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043194 commonName VAR_043194
VAR_043194 disease phenotype-associated
VAR_043194 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043195 commonName VAR_043195
VAR_043195 disease phenotype-associated
VAR_043195 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043196 commonName VAR_043196
VAR_043196 disease phenotype-associated
VAR_043196 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043197 commonName VAR_043197
VAR_043197 disease phenotype-associated
VAR_043197 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043198 commonName VAR_043198
VAR_043198 disease not phenotype-associated
VAR_043199 commonName VAR_043199
VAR_043199 disease phenotype-associated
VAR_043199 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043200 commonName VAR_043200
VAR_043200 disease phenotype-associated
VAR_043200 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043201 commonName VAR_043201
VAR_043201 disease phenotype-associated
VAR_043201 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043202 commonName VAR_043202
VAR_043202 disease phenotype-associated
VAR_043202 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043203 commonName VAR_043203
VAR_043203 disease not phenotype-associated
VAR_043204 commonName VAR_043204
VAR_043204 disease phenotype-associated
VAR_043204 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043205 commonName VAR_043205
VAR_043205 disease phenotype-associated
VAR_043205 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043206 commonName VAR_043206
VAR_043206 disease phenotype-associated
VAR_043206 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043207 commonName VAR_043207
VAR_043207 disease phenotype-associated
VAR_043207 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043208 commonName VAR_043208
VAR_043208 disease phenotype-associated
VAR_043208 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043209 commonName VAR_043209
VAR_043209 disease phenotype-associated
VAR_043209 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043210 commonName VAR_043210
VAR_043210 disease phenotype-associated
VAR_043210 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043211 commonName VAR_043211
VAR_043211 disease phenotype-associated
VAR_043211 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043212 commonName VAR_043212
VAR_043212 disease phenotype-associated
VAR_043212 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043213 commonName VAR_043213
VAR_043213 disease phenotype-associated
VAR_043213 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043214 commonName VAR_043214
VAR_043214 disease phenotype-associated
VAR_043214 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043215 commonName VAR_043215
VAR_043215 disease phenotype-associated
VAR_043215 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043216 commonName VAR_043216
VAR_043216 disease phenotype-associated
VAR_043216 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043217 commonName VAR_043217
VAR_043217 disease phenotype-associated
VAR_043217 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043218 commonName VAR_043218
VAR_043218 disease phenotype-associated
VAR_043218 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043219 commonName VAR_043219
VAR_043219 disease phenotype-associated
VAR_043219 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043220 commonName VAR_043220
VAR_043220 disease phenotype-associated
VAR_043220 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043221 commonName VAR_043221
VAR_043221 disease phenotype-associated
VAR_043221 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043222 commonName VAR_043222
VAR_043222 disease phenotype-associated
VAR_043222 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043223 commonName VAR_043223
VAR_043223 disease phenotype-associated
VAR_043223 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043224 commonName VAR_043224
VAR_043224 disease phenotype-associated
VAR_043224 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043225 commonName VAR_043225
VAR_043225 disease phenotype-associated
VAR_043225 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043226 commonName VAR_043226
VAR_043226 disease phenotype-associated
VAR_043226 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043227 commonName VAR_043227
VAR_043227 disease phenotype-associated
VAR_043227 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043228 commonName VAR_043228
VAR_043228 disease phenotype-associated
VAR_043228 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043229 commonName VAR_043229
VAR_043229 disease phenotype-associated
VAR_043229 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043230 commonName VAR_043230
VAR_043230 disease phenotype-associated
VAR_043230 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043231 commonName VAR_043231
VAR_043231 disease phenotype-associated
VAR_043231 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043232 commonName VAR_043232
VAR_043232 disease phenotype-associated
VAR_043232 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043233 commonName VAR_043233
VAR_043233 disease phenotype-associated
VAR_043233 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043234 commonName VAR_043234
VAR_043234 disease phenotype-associated
VAR_043234 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043235 commonName VAR_043235
VAR_043235 disease phenotype-associated
VAR_043235 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043236 commonName VAR_043236
VAR_043236 disease phenotype-associated
VAR_043236 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220]
VAR_043303 commonName VAR_043303
VAR_043303 disease phenotype-associated
VAR_043303 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_043304 commonName VAR_043304
VAR_043304 disease phenotype-associated
VAR_043304 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_043305 commonName VAR_043305
VAR_043305 disease phenotype-associated
VAR_043305 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_043306 commonName VAR_043306
VAR_043306 disease phenotype-associated
VAR_043306 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_043307 commonName VAR_043307
VAR_043307 disease phenotype-associated
VAR_043307 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625]
VAR_043308 commonName VAR_043308
VAR_043308 disease not phenotype-associated
VAR_043309 commonName VAR_043309
VAR_043309 disease not phenotype-associated
VAR_043310 commonName VAR_043310
VAR_043310 disease not phenotype-associated
VAR_043312 commonName VAR_043312
VAR_043312 disease not phenotype-associated
VAR_043313 commonName VAR_043313
VAR_043313 disease not phenotype-associated
VAR_043314 commonName VAR_043314
VAR_043314 disease not phenotype-associated
VAR_043315 commonName VAR_043315
VAR_043315 disease not phenotype-associated
VAR_043316 commonName VAR_043316
VAR_043316 disease not phenotype-associated
VAR_043317 commonName VAR_043317
VAR_043317 disease not phenotype-associated
VAR_043318 commonName VAR_043318
VAR_043318 disease not phenotype-associated
VAR_043319 commonName VAR_043319
VAR_043319 disease not phenotype-associated
VAR_043320 commonName VAR_043320
VAR_043320 disease not phenotype-associated
VAR_043321 commonName VAR_043321
VAR_043321 disease not phenotype-associated
VAR_043322 commonName VAR_043322
VAR_043322 disease not phenotype-associated
VAR_043323 commonName VAR_043323
VAR_043323 disease not phenotype-associated
VAR_043324 commonName VAR_043324
VAR_043324 disease not phenotype-associated
VAR_043325 commonName VAR_043325
VAR_043326 commonName VAR_043326
VAR_043327 commonName VAR_043327
VAR_043327 disease not phenotype-associated
VAR_043328 commonName VAR_043328
VAR_043328 disease not phenotype-associated
VAR_043329 commonName VAR_043329
VAR_043329 disease not phenotype-associated
VAR_043330 commonName VAR_043330
VAR_043330 disease not phenotype-associated
VAR_043331 commonName VAR_043331
VAR_043331 disease not phenotype-associated
VAR_043332 commonName VAR_043332
VAR_043332 disease not phenotype-associated
VAR_043334 commonName VAR_043334
VAR_043334 disease not phenotype-associated
VAR_043335 commonName VAR_043335
VAR_043335 disease not phenotype-associated
VAR_043336 commonName VAR_043336
VAR_043336 disease not phenotype-associated
VAR_043337 commonName VAR_043337
VAR_043337 disease not phenotype-associated
VAR_043338 commonName VAR_043338
VAR_043338 disease not phenotype-associated
VAR_043339 commonName VAR_043339
VAR_043339 disease not phenotype-associated
VAR_043340 commonName VAR_043340
VAR_043340 disease not phenotype-associated
VAR_043341 commonName VAR_043341
VAR_043341 disease not phenotype-associated
VAR_043342 commonName VAR_043342
VAR_043342 disease not phenotype-associated
VAR_043343 commonName VAR_043343
VAR_043343 disease not phenotype-associated
VAR_043344 commonName VAR_043344
VAR_043344 disease not phenotype-associated
VAR_043346 commonName VAR_043346
VAR_043346 disease not phenotype-associated
VAR_043347 commonName VAR_043347
VAR_043347 disease not phenotype-associated
VAR_043348 commonName VAR_043348
VAR_043348 disease not phenotype-associated
VAR_043349 commonName VAR_043349
VAR_043349 disease phenotype-associated
VAR_043349 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043350 commonName VAR_043350
VAR_043350 disease phenotype-associated
VAR_043350 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043351 commonName VAR_043351
VAR_043351 disease phenotype-associated
VAR_043351 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043352 commonName VAR_043352
VAR_043352 disease phenotype-associated
VAR_043352 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043353 commonName VAR_043353
VAR_043353 disease phenotype-associated
VAR_043353 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043354 commonName VAR_043354
VAR_043354 disease phenotype-associated
VAR_043354 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_043355 commonName VAR_043355
VAR_043355 disease phenotype-associated
VAR_043355 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043356 commonName VAR_043356
VAR_043356 disease phenotype-associated
VAR_043357 commonName VAR_043357
VAR_043357 disease phenotype-associated
VAR_043358 commonName VAR_043358
VAR_043359 commonName VAR_043359
VAR_043359 disease not phenotype-associated
VAR_043360 commonName VAR_043360
VAR_043360 disease phenotype-associated
VAR_043360 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043361 commonName VAR_043361
VAR_043361 disease phenotype-associated
VAR_043361 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043362 commonName VAR_043362
VAR_043362 disease phenotype-associated
VAR_043362 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043363 commonName VAR_043363
VAR_043363 disease phenotype-associated
VAR_043363 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043364 commonName VAR_043364
VAR_043364 disease phenotype-associated
VAR_043364 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_043364 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
VAR_043365 commonName VAR_043365
VAR_043365 disease phenotype-associated
VAR_043365 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_043366 commonName VAR_043366
VAR_043366 disease phenotype-associated
VAR_043367 commonName VAR_043367
VAR_043367 disease not phenotype-associated
VAR_043368 commonName VAR_043368
VAR_043368 disease phenotype-associated
VAR_043369 commonName VAR_043369
VAR_043369 disease phenotype-associated
VAR_043370 commonName VAR_043370
VAR_043370 disease phenotype-associated
VAR_043371 commonName VAR_043371
VAR_043371 disease not phenotype-associated
VAR_043372 commonName VAR_043372
VAR_043372 disease not phenotype-associated
VAR_043373 commonName VAR_043373
VAR_043373 disease not phenotype-associated
VAR_043374 commonName VAR_043374
VAR_043374 disease not phenotype-associated
VAR_043378 commonName VAR_043378
VAR_043378 disease not phenotype-associated
VAR_043379 commonName VAR_043379
VAR_043379 disease not phenotype-associated
VAR_043380 commonName VAR_043380
VAR_043380 disease not phenotype-associated
VAR_043381 commonName VAR_043381
VAR_043381 disease not phenotype-associated
VAR_043383 commonName VAR_043383
VAR_043383 disease phenotype-associated
VAR_043383 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043384 commonName VAR_043384
VAR_043384 disease phenotype-associated
VAR_043384 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043385 commonName VAR_043385
VAR_043385 disease phenotype-associated
VAR_043385 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043386 commonName VAR_043386
VAR_043387 commonName VAR_043387
VAR_043388 commonName VAR_043388
VAR_043388 disease phenotype-associated
VAR_043388 phenoCommon Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
VAR_043389 commonName VAR_043389
VAR_043389 disease phenotype-associated
VAR_043389 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043390 commonName VAR_043390
VAR_043390 disease phenotype-associated
VAR_043390 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043392 commonName VAR_043392
VAR_043392 disease phenotype-associated
VAR_043392 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043394 commonName VAR_043394
VAR_043394 disease phenotype-associated
VAR_043394 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
HbVar.682 protEffect HBA2 80(EF8) Ala>Gly
VAR_043395 comment Gastric cancer
VAR_043395 commonName VAR_043395
VAR_043396 comment Gastric cancer
VAR_043396 commonName VAR_043396
VAR_043397 commonName VAR_043397
VAR_043397 disease phenotype-associated
VAR_043397 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043398 commonName VAR_043398
VAR_043399 commonName VAR_043399
VAR_043399 disease phenotype-associated
VAR_043399 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043400 commonName VAR_043400
VAR_043400 disease phenotype-associated
VAR_043400 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043401 commonName VAR_043401
VAR_043402 commonName VAR_043402
VAR_043402 disease phenotype-associated
VAR_043402 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043403 commonName VAR_043403
VAR_043403 disease phenotype-associated
VAR_043403 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043404 commonName VAR_043404
VAR_043404 disease phenotype-associated
VAR_043404 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043405 commonName VAR_043405
VAR_043405 disease phenotype-associated
VAR_043405 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043406 commonName VAR_043406
VAR_043406 disease phenotype-associated
VAR_043406 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043409 commonName VAR_043409
VAR_043409 disease phenotype-associated
VAR_043409 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043410 commonName VAR_043410
VAR_043411 commonName VAR_043411
VAR_043412 commonName VAR_043412
VAR_043412 disease not phenotype-associated
VAR_043413 commonName VAR_043413
VAR_043414 commonName VAR_043414
VAR_043414 disease phenotype-associated
VAR_043414 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043415 commonName VAR_043415
VAR_043415 disease phenotype-associated
VAR_043415 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043416 commonName VAR_043416
VAR_043416 disease phenotype-associated
VAR_043416 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043417 commonName VAR_043417
VAR_043417 disease phenotype-associated
VAR_043417 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043418 commonName VAR_043418
VAR_043418 disease phenotype-associated
VAR_043418 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043419 commonName VAR_043419
VAR_043419 disease phenotype-associated
VAR_043419 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043421 commonName VAR_043421
VAR_043424 comment Colorectal cancer
VAR_043424 commonName VAR_043424
VAR_043425 commonName VAR_043425
VAR_043425 disease phenotype-associated
VAR_043425 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043426 commonName VAR_043426
VAR_043426 disease phenotype-associated
VAR_043426 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043427 comment Gastric cancer
VAR_043427 commonName VAR_043427
VAR_043428 commonName VAR_043428
VAR_043428 disease phenotype-associated
VAR_043428 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043429 commonName VAR_043429
VAR_043429 disease phenotype-associated
VAR_043429 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043430 commonName VAR_043430
VAR_043431 commonName VAR_043431
VAR_043431 disease phenotype-associated
VAR_043431 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
VAR_043432 commonName VAR_043432
VAR_043432 disease not phenotype-associated
VAR_043434 commonName VAR_043434
VAR_043434 disease not phenotype-associated
VAR_043439 commonName VAR_043439
VAR_043439 disease not phenotype-associated
HbVar.682 commonName Hb J-Singapore
VAR_043440 commonName VAR_043440
VAR_043440 disease not phenotype-associated
VAR_043441 commonName VAR_043441
VAR_043441 disease not phenotype-associated
VAR_043442 commonName VAR_043442
VAR_043442 disease not phenotype-associated
VAR_043443 commonName VAR_043443
VAR_043443 disease not phenotype-associated
VAR_043444 commonName VAR_043444
VAR_043444 disease not phenotype-associated
VAR_043445 commonName VAR_043445
VAR_043445 disease not phenotype-associated
VAR_043446 commonName VAR_043446
VAR_043446 disease not phenotype-associated
VAR_043447 commonName VAR_043447
VAR_043447 disease not phenotype-associated
VAR_043450 commonName VAR_043450
VAR_043450 disease not phenotype-associated
VAR_043451 commonName VAR_043451
VAR_043451 disease not phenotype-associated
VAR_043452 commonName VAR_043452
VAR_043452 disease not phenotype-associated
VAR_043453 commonName VAR_043453
VAR_043453 disease phenotype-associated
VAR_043453 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
VAR_043454 commonName VAR_043454
VAR_043454 disease phenotype-associated
VAR_043454 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
VAR_043455 commonName VAR_043455
VAR_043455 disease phenotype-associated
VAR_043455 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
VAR_043463 commonName VAR_043463
VAR_043463 disease not phenotype-associated
VAR_043464 commonName VAR_043464
VAR_043464 disease not phenotype-associated
VAR_043465 commonName VAR_043465
VAR_043465 disease not phenotype-associated
VAR_043466 commonName VAR_043466
VAR_043466 disease not phenotype-associated
VAR_043467 commonName VAR_043467
VAR_043467 disease not phenotype-associated
VAR_043468 commonName VAR_043468
VAR_043468 disease not phenotype-associated
VAR_043469 commonName VAR_043469
VAR_043469 disease not phenotype-associated
VAR_043470 commonName VAR_043470
VAR_043470 disease not phenotype-associated
VAR_043471 commonName VAR_043471
VAR_043471 disease not phenotype-associated
VAR_043473 commonName VAR_043473
VAR_043473 disease not phenotype-associated
VAR_043474 commonName VAR_043474
VAR_043474 disease not phenotype-associated
VAR_043475 commonName VAR_043475
VAR_043475 disease not phenotype-associated
VAR_043476 commonName VAR_043476
VAR_043476 disease not phenotype-associated
VAR_043478 commonName VAR_043478
VAR_043478 disease not phenotype-associated
VAR_043479 commonName VAR_043479
VAR_043479 disease not phenotype-associated
VAR_043480 commonName VAR_043480
VAR_043480 disease not phenotype-associated
VAR_043481 commonName VAR_043481
VAR_043481 disease not phenotype-associated
VAR_043482 commonName VAR_043482
VAR_043482 disease not phenotype-associated
VAR_043483 commonName VAR_043483
VAR_043483 disease not phenotype-associated
VAR_043484 commonName VAR_043484
VAR_043484 disease phenotype-associated
VAR_043484 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699]
VAR_043485 commonName VAR_043485
VAR_043485 disease phenotype-associated
VAR_043485 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699]
VAR_043486 commonName VAR_043486
VAR_043486 disease phenotype-associated
VAR_043486 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699]
VAR_043487 commonName VAR_043487
VAR_043487 disease phenotype-associated
VAR_043487 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699]
VAR_043493 commonName VAR_043493
VAR_043493 disease phenotype-associated
VAR_043493 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_043494 commonName VAR_043494
VAR_043494 disease phenotype-associated
VAR_043494 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_043495 commonName VAR_043495
VAR_043495 disease phenotype-associated
VAR_043495 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
VAR_043496 commonName VAR_043496
VAR_043496 disease not phenotype-associated
VAR_043497 commonName VAR_043497
VAR_043497 disease phenotype-associated
VAR_043497 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]
VAR_043498 commonName VAR_043498
VAR_043498 disease phenotype-associated
VAR_043498 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]
VAR_043499 commonName VAR_043499
VAR_043499 disease phenotype-associated
VAR_043499 phenoCommon Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]
VAR_043500 commonName VAR_043500
VAR_043500 disease not phenotype-associated
VAR_043501 commonName VAR_043501
VAR_043501 disease phenotype-associated
VAR_043501 phenoCommon Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]
VAR_043502 commonName VAR_043502
VAR_043502 disease phenotype-associated
VAR_043502 phenoCommon Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]
VAR_043509 commonName VAR_043509
VAR_043509 disease phenotype-associated
VAR_043509 phenoCommon Snowflake vitreoretinal degeneration (SVD) [MIM:193230]
VAR_043510 commonName VAR_043510
VAR_043510 disease not phenotype-associated
VAR_043511 commonName VAR_043511
VAR_043511 disease not phenotype-associated
VAR_043512 commonName VAR_043512
VAR_043512 disease not phenotype-associated
VAR_043513 commonName VAR_043513
VAR_043513 disease phenotype-associated
VAR_043513 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]
VAR_043514 commonName VAR_043514
VAR_043514 disease phenotype-associated
VAR_043514 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]
VAR_043515 commonName VAR_043515
VAR_043515 disease not phenotype-associated
VAR_043516 commonName VAR_043516
VAR_043516 disease not phenotype-associated
VAR_043517 commonName VAR_043517
VAR_043517 disease not phenotype-associated
VAR_043518 commonName VAR_043518
VAR_043519 commonName VAR_043519
VAR_043520 commonName VAR_043520
VAR_043521 commonName VAR_043521
VAR_043521 disease not phenotype-associated
VAR_043522 commonName VAR_043522
VAR_043522 disease not phenotype-associated
VAR_043523 commonName VAR_043523
VAR_043524 commonName VAR_043524
VAR_043524 disease not phenotype-associated
VAR_043525 commonName VAR_043525
VAR_043525 disease not phenotype-associated
VAR_043526 commonName VAR_043526
VAR_043526 disease not phenotype-associated
VAR_043527 commonName VAR_043527
VAR_043531 commonName VAR_043531
VAR_043531 disease phenotype-associated
VAR_043531 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
VAR_043532 commonName VAR_043532
VAR_043532 disease phenotype-associated
VAR_043532 phenoCommon Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]
VAR_043533 commonName VAR_043533
VAR_043534 commonName VAR_043534
VAR_043535 commonName VAR_043535
VAR_043535 disease not phenotype-associated
VAR_043536 commonName VAR_043536
VAR_043536 disease not phenotype-associated
VAR_043537 commonName VAR_043537
VAR_043537 disease not phenotype-associated
VAR_043538 commonName VAR_043538
VAR_043538 disease not phenotype-associated
VAR_043539 commonName VAR_043539
VAR_043539 disease not phenotype-associated
VAR_043540 commonName VAR_043540
VAR_043540 disease not phenotype-associated
VAR_043541 commonName VAR_043541
VAR_043541 disease not phenotype-associated
VAR_043542 commonName VAR_043542
VAR_043542 disease not phenotype-associated
VAR_043543 commonName VAR_043543
VAR_043543 disease not phenotype-associated
VAR_043544 commonName VAR_043544
VAR_043544 disease not phenotype-associated
VAR_043545 commonName VAR_043545
VAR_043545 disease not phenotype-associated
VAR_043546 commonName VAR_043546
VAR_043546 disease not phenotype-associated
VAR_043547 commonName VAR_043547
VAR_043547 disease not phenotype-associated
VAR_043548 commonName VAR_043548
VAR_043548 disease not phenotype-associated
VAR_043549 commonName VAR_043549
VAR_043549 disease not phenotype-associated
VAR_043550 commonName VAR_043550
VAR_043550 disease not phenotype-associated
VAR_043555 commonName VAR_043555
VAR_043555 disease not phenotype-associated
VAR_043556 commonName VAR_043556
VAR_043556 disease not phenotype-associated
VAR_043557 commonName VAR_043557
VAR_043557 disease not phenotype-associated
VAR_043558 commonName VAR_043558
VAR_043558 disease not phenotype-associated
VAR_043559 commonName VAR_043559
VAR_043559 disease not phenotype-associated
VAR_043560 commonName VAR_043560
VAR_043560 disease not phenotype-associated
VAR_043561 commonName VAR_043561
VAR_043561 disease not phenotype-associated
VAR_043562 commonName VAR_043562
VAR_043562 disease not phenotype-associated
VAR_043563 commonName VAR_043563
VAR_043563 disease not phenotype-associated
VAR_043564 commonName VAR_043564
VAR_043564 disease not phenotype-associated
VAR_043565 commonName VAR_043565
VAR_043565 disease not phenotype-associated
VAR_043566 commonName VAR_043566
VAR_043566 disease not phenotype-associated
VAR_043567 commonName VAR_043567
VAR_043567 disease not phenotype-associated
VAR_043568 commonName VAR_043568
VAR_043568 disease not phenotype-associated
VAR_043570 commonName VAR_043570
VAR_043570 disease not phenotype-associated
VAR_043571 commonName VAR_043571
VAR_043571 disease not phenotype-associated
VAR_043572 commonName VAR_043572
VAR_043572 disease not phenotype-associated
VAR_043573 commonName VAR_043573
VAR_043573 disease not phenotype-associated
VAR_043577 commonName VAR_043577
VAR_043577 disease not phenotype-associated
VAR_043578 commonName VAR_043578
VAR_043578 disease not phenotype-associated
VAR_043579 commonName VAR_043579
VAR_043579 disease not phenotype-associated
VAR_043580 commonName VAR_043580
VAR_043580 disease not phenotype-associated
VAR_043581 commonName VAR_043581
VAR_043581 disease not phenotype-associated
VAR_043582 commonName VAR_043582
VAR_043582 disease not phenotype-associated
VAR_043583 commonName VAR_043583
VAR_043583 disease not phenotype-associated
VAR_043584 commonName VAR_043584
VAR_043584 disease not phenotype-associated
VAR_043585 commonName VAR_043585
VAR_043585 disease not phenotype-associated
VAR_043587 commonName VAR_043587
VAR_043587 disease not phenotype-associated
VAR_043588 comment A colorectal cancer sample
VAR_043588 commonName VAR_043588
VAR_043589 commonName VAR_043589
VAR_043589 disease not phenotype-associated
VAR_043590 commonName VAR_043590
VAR_043590 disease not phenotype-associated
VAR_043591 commonName VAR_043591
VAR_043591 disease not phenotype-associated
VAR_043592 commonName VAR_043592
VAR_043592 disease not phenotype-associated
VAR_043593 comment A colorectal cancer sample
VAR_043593 commonName VAR_043593
VAR_043594 commonName VAR_043594
VAR_043594 disease not phenotype-associated
VAR_043595 commonName VAR_043595
VAR_043595 disease not phenotype-associated
VAR_043596 commonName VAR_043596
VAR_043596 disease not phenotype-associated
VAR_043597 comment A breast cancer sample
VAR_043597 commonName VAR_043597
VAR_043598 commonName VAR_043598
VAR_043598 disease not phenotype-associated
VAR_043599 commonName VAR_043599
VAR_043599 disease not phenotype-associated
VAR_043600 commonName VAR_043600
VAR_043600 disease not phenotype-associated
VAR_043601 commonName VAR_043601
VAR_043601 disease not phenotype-associated
VAR_043602 commonName VAR_043602
VAR_043602 disease not phenotype-associated
VAR_043603 commonName VAR_043603
VAR_043603 disease not phenotype-associated
VAR_043604 commonName VAR_043604
VAR_043604 disease not phenotype-associated
VAR_043605 commonName VAR_043605
VAR_043605 disease not phenotype-associated
VAR_043606 commonName VAR_043606
VAR_043606 disease not phenotype-associated
VAR_043609 commonName VAR_043609
VAR_043609 disease not phenotype-associated
VAR_043610 commonName VAR_043610
VAR_043610 disease not phenotype-associated
VAR_043611 commonName VAR_043611
VAR_043611 disease not phenotype-associated
VAR_043612 commonName VAR_043612
VAR_043612 disease not phenotype-associated
VAR_043613 commonName VAR_043613
VAR_043613 disease not phenotype-associated
VAR_043614 commonName VAR_043614
VAR_043614 disease not phenotype-associated
VAR_043615 commonName VAR_043615
VAR_043615 disease not phenotype-associated
VAR_043616 commonName VAR_043616
VAR_043616 disease not phenotype-associated
VAR_043617 commonName VAR_043617
VAR_043617 disease not phenotype-associated
VAR_043618 commonName VAR_043618
VAR_043618 disease not phenotype-associated
VAR_043619 commonName VAR_043619
VAR_043619 disease not phenotype-associated
VAR_043620 commonName VAR_043620
VAR_043620 disease not phenotype-associated
VAR_043621 commonName VAR_043621
VAR_043621 disease not phenotype-associated
VAR_043622 commonName VAR_043622
VAR_043622 disease not phenotype-associated
VAR_043623 commonName VAR_043623
VAR_043623 disease not phenotype-associated
VAR_043624 commonName VAR_043624
VAR_043624 disease not phenotype-associated
VAR_043668 commonName VAR_043668
VAR_043668 disease not phenotype-associated
VAR_043669 commonName VAR_043669
VAR_043669 disease not phenotype-associated
VAR_043670 commonName VAR_043670
VAR_043670 disease not phenotype-associated
VAR_043672 commonName VAR_043672
VAR_043672 disease not phenotype-associated
VAR_043673 commonName VAR_043673
VAR_043673 disease not phenotype-associated
VAR_043676 commonName VAR_043676
VAR_043676 disease not phenotype-associated
VAR_043677 commonName VAR_043677
VAR_043677 disease not phenotype-associated
VAR_043678 commonName VAR_043678
VAR_043678 disease not phenotype-associated
VAR_043679 commonName VAR_043679
VAR_043679 disease phenotype-associated
VAR_043679 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043680 commonName VAR_043680
VAR_043680 disease phenotype-associated
VAR_043680 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043681 commonName VAR_043681
VAR_043681 disease phenotype-associated
VAR_043681 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043682 commonName VAR_043682
VAR_043682 disease phenotype-associated
VAR_043682 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043683 commonName VAR_043683
VAR_043683 disease phenotype-associated
VAR_043683 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043684 commonName VAR_043684
VAR_043684 disease phenotype-associated
VAR_043684 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043685 commonName VAR_043685
VAR_043685 disease phenotype-associated
VAR_043685 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_043686 commonName VAR_043686
VAR_043686 disease phenotype-associated
VAR_043686 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043687 commonName VAR_043687
VAR_043687 disease phenotype-associated
VAR_043687 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043688 commonName VAR_043688
VAR_043688 disease phenotype-associated
VAR_043688 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043689 commonName VAR_043689
VAR_043689 disease phenotype-associated
VAR_043689 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]
VAR_043690 commonName VAR_043690
VAR_043690 disease phenotype-associated
VAR_043690 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043691 commonName VAR_043691
VAR_043691 disease phenotype-associated
VAR_043691 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043692 commonName VAR_043692
VAR_043692 disease phenotype-associated
VAR_043692 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
VAR_043693 commonName VAR_043693
VAR_043693 disease not phenotype-associated
VAR_043694 commonName VAR_043694
VAR_043694 disease phenotype-associated
VAR_043694 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_043695 commonName VAR_043695
VAR_043695 disease phenotype-associated
VAR_043695 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818]
VAR_043695 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_043696 commonName VAR_043696
VAR_043696 disease phenotype-associated
VAR_043696 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818]
VAR_043696 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_043697 commonName VAR_043697
VAR_043697 disease phenotype-associated
VAR_043697 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818]
VAR_043698 commonName VAR_043698
VAR_043698 disease phenotype-associated
VAR_043698 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818]
VAR_043699 commonName VAR_043699
VAR_043699 disease phenotype-associated
VAR_043699 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818]
VAR_043700 commonName VAR_043700
VAR_043700 disease phenotype-associated
VAR_043700 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_043701 commonName VAR_043701
VAR_043701 disease phenotype-associated
VAR_043701 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_043702 commonName VAR_043702
VAR_043702 disease phenotype-associated
VAR_043702 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200]
VAR_043703 commonName VAR_043703
VAR_043703 disease not phenotype-associated
VAR_043704 commonName VAR_043704
VAR_043704 disease not phenotype-associated
VAR_043705 commonName VAR_043705
VAR_043705 disease not phenotype-associated
VAR_043706 commonName VAR_043706
VAR_043706 disease not phenotype-associated
VAR_043707 commonName VAR_043707
VAR_043707 disease not phenotype-associated
VAR_043713 commonName VAR_043713
VAR_043713 disease not phenotype-associated
VAR_043714 commonName VAR_043714
VAR_043714 disease phenotype-associated
VAR_043714 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043715 commonName VAR_043715
VAR_043715 disease phenotype-associated
VAR_043715 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043716 commonName VAR_043716
VAR_043716 disease phenotype-associated
VAR_043716 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043717 commonName VAR_043717
VAR_043717 disease phenotype-associated
VAR_043717 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043718 commonName VAR_043718
VAR_043718 disease phenotype-associated
VAR_043718 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043719 commonName VAR_043719
VAR_043719 disease phenotype-associated
VAR_043719 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043720 commonName VAR_043720
VAR_043720 disease phenotype-associated
VAR_043720 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043721 commonName VAR_043721
VAR_043721 disease phenotype-associated
VAR_043721 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043722 commonName VAR_043722
VAR_043722 disease phenotype-associated
VAR_043722 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043723 commonName VAR_043723
VAR_043723 disease phenotype-associated
VAR_043723 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043724 commonName VAR_043724
VAR_043724 disease phenotype-associated
VAR_043724 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_043725 commonName VAR_043725
VAR_043725 disease phenotype-associated
VAR_043725 phenoCommon Dyskeratosis congenita autosomal recessive type 1 (DKCB1) [MIM:224230]
VAR_043726 commonName VAR_043726
VAR_043726 disease not phenotype-associated
VAR_043727 commonName VAR_043727
VAR_043727 disease not phenotype-associated
VAR_043729 commonName VAR_043729
VAR_043729 disease not phenotype-associated
VAR_043736 comment Colorectal cancer
VAR_043736 commonName VAR_043736
VAR_043737 comment Gastric cancer
VAR_043737 commonName VAR_043737
VAR_043738 commonName VAR_043738
VAR_043738 disease phenotype-associated
VAR_043738 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043739 commonName VAR_043739
VAR_043740 commonName VAR_043740
VAR_043740 disease phenotype-associated
VAR_043740 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043741 commonName VAR_043741
VAR_043741 disease phenotype-associated
VAR_043741 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043743 commonName VAR_043743
VAR_043743 disease phenotype-associated
VAR_043743 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043744 commonName VAR_043744
VAR_043744 disease phenotype-associated
VAR_043744 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043745 commonName VAR_043745
VAR_043745 disease phenotype-associated
VAR_043745 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043746 commonName VAR_043746
VAR_043746 disease phenotype-associated
VAR_043746 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043747 commonName VAR_043747
VAR_043747 disease phenotype-associated
VAR_043747 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043748 commonName VAR_043748
VAR_043748 disease phenotype-associated
VAR_043748 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043749 commonName VAR_043749
VAR_043749 disease phenotype-associated
VAR_043749 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043750 commonName VAR_043750
VAR_043751 commonName VAR_043751
VAR_043751 disease phenotype-associated
VAR_043751 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043752 commonName VAR_043752
VAR_043752 disease phenotype-associated
VAR_043752 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043753 commonName VAR_043753
VAR_043753 disease phenotype-associated
VAR_043753 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043754 commonName VAR_043754
VAR_043755 commonName VAR_043755
VAR_043755 disease phenotype-associated
VAR_043755 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043756 commonName VAR_043756
VAR_043757 commonName VAR_043757
VAR_043757 disease phenotype-associated
VAR_043757 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043758 commonName VAR_043758
VAR_043759 commonName VAR_043759
VAR_043759 disease phenotype-associated
VAR_043759 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043760 commonName VAR_043760
VAR_043761 commonName VAR_043761
VAR_043761 disease phenotype-associated
VAR_043761 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043762 comment Colorectal cancer
VAR_043762 commonName VAR_043762
VAR_043763 commonName VAR_043763
VAR_043763 disease phenotype-associated
VAR_043763 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043764 commonName VAR_043764
VAR_043764 disease phenotype-associated
VAR_043764 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043765 commonName VAR_043765
VAR_043765 disease phenotype-associated
VAR_043765 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043767 commonName VAR_043767
VAR_043767 disease phenotype-associated
VAR_043767 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043768 commonName VAR_043768
VAR_043768 disease phenotype-associated
VAR_043768 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043769 commonName VAR_043769
VAR_043769 disease phenotype-associated
VAR_043769 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043770 commonName VAR_043770
VAR_043770 disease phenotype-associated
VAR_043770 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043771 commonName VAR_043771
VAR_043771 disease phenotype-associated
VAR_043771 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043772 commonName VAR_043772
VAR_043772 disease phenotype-associated
VAR_043772 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043773 commonName VAR_043773
VAR_043774 commonName VAR_043774
VAR_043774 disease phenotype-associated
VAR_043774 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043775 commonName VAR_043775
VAR_043775 disease phenotype-associated
VAR_043775 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043776 commonName VAR_043776
VAR_043776 disease phenotype-associated
VAR_043776 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043777 commonName VAR_043777
VAR_043777 disease phenotype-associated
VAR_043777 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043778 commonName VAR_043778
VAR_043778 disease phenotype-associated
VAR_043778 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043779 commonName VAR_043779
VAR_043779 disease phenotype-associated
VAR_043779 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043780 commonName VAR_043780
VAR_043780 disease phenotype-associated
VAR_043780 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043781 commonName VAR_043781
VAR_043781 disease phenotype-associated
VAR_043781 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043782 commonName VAR_043782
VAR_043782 disease phenotype-associated
VAR_043782 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043783 commonName VAR_043783
VAR_043783 disease phenotype-associated
VAR_043783 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_043796 commonName VAR_043796
VAR_043796 disease not phenotype-associated
VAR_043797 commonName VAR_043797
VAR_043797 disease phenotype-associated
VAR_043797 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]
VAR_043813 commonName VAR_043813
VAR_043813 disease not phenotype-associated
VAR_043814 commonName VAR_043814
VAR_043814 disease not phenotype-associated
VAR_043815 commonName VAR_043815
VAR_043815 disease not phenotype-associated
VAR_043816 commonName VAR_043816
VAR_043816 disease not phenotype-associated
VAR_043818 commonName VAR_043818
VAR_043818 disease not phenotype-associated
VAR_043819 commonName VAR_043819
VAR_043820 commonName VAR_043820
VAR_043820 disease phenotype-associated
VAR_043820 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043821 commonName VAR_043821
VAR_043821 disease phenotype-associated
VAR_043821 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043822 commonName VAR_043822
VAR_043822 disease phenotype-associated
VAR_043822 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043823 commonName VAR_043823
VAR_043823 disease phenotype-associated
VAR_043823 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043824 commonName VAR_043824
VAR_043824 disease phenotype-associated
VAR_043824 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043825 commonName VAR_043825
VAR_043825 disease phenotype-associated
VAR_043825 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043825 phenoCommon Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]
VAR_043826 commonName VAR_043826
VAR_043826 disease phenotype-associated
VAR_043826 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043827 commonName VAR_043827
VAR_043827 disease phenotype-associated
VAR_043827 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043828 commonName VAR_043828
VAR_043828 disease not phenotype-associated
VAR_043829 commonName VAR_043829
VAR_043829 disease phenotype-associated
VAR_043829 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043830 commonName VAR_043830
VAR_043830 disease phenotype-associated
VAR_043830 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043831 commonName VAR_043831
VAR_043831 disease phenotype-associated
VAR_043831 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043832 commonName VAR_043832
VAR_043832 disease phenotype-associated
VAR_043832 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043833 commonName VAR_043833
VAR_043833 disease phenotype-associated
VAR_043833 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043834 commonName VAR_043834
VAR_043834 disease phenotype-associated
VAR_043834 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043835 commonName VAR_043835
VAR_043835 disease phenotype-associated
VAR_043835 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043836 commonName VAR_043836
VAR_043836 disease phenotype-associated
VAR_043836 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043837 commonName VAR_043837
VAR_043837 disease phenotype-associated
VAR_043837 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043838 commonName VAR_043838
VAR_043838 disease phenotype-associated
VAR_043838 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043839 commonName VAR_043839
VAR_043839 disease phenotype-associated
VAR_043839 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_043840 commonName VAR_043840
VAR_043840 disease phenotype-associated
VAR_043840 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043841 commonName VAR_043841
VAR_043841 disease phenotype-associated
VAR_043841 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043842 commonName VAR_043842
VAR_043842 disease phenotype-associated
VAR_043842 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_043844 commonName VAR_043844
VAR_043844 disease phenotype-associated
VAR_043844 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]
VAR_043846 commonName VAR_043846
VAR_043846 disease phenotype-associated
VAR_043846 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]
VAR_043847 commonName VAR_043847
VAR_043847 disease phenotype-associated
VAR_043847 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]
VAR_043848 comment A colorectal cancer sample
VAR_043848 commonName VAR_043848
VAR_043849 commonName VAR_043849
VAR_043849 disease not phenotype-associated
VAR_043850 commonName VAR_043850
VAR_043850 disease not phenotype-associated
VAR_043851 commonName VAR_043851
VAR_043851 disease not phenotype-associated
VAR_043852 commonName VAR_043852
VAR_043852 disease not phenotype-associated
VAR_043853 commonName VAR_043853
VAR_043853 disease not phenotype-associated
VAR_043854 commonName VAR_043854
VAR_043854 disease not phenotype-associated
VAR_043855 commonName VAR_043855
VAR_043855 disease not phenotype-associated
VAR_043856 commonName VAR_043856
VAR_043856 disease not phenotype-associated
VAR_043857 commonName VAR_043857
VAR_043857 disease not phenotype-associated
VAR_043858 commonName VAR_043858
VAR_043858 disease not phenotype-associated
VAR_043859 commonName VAR_043859
VAR_043859 disease not phenotype-associated
VAR_043860 commonName VAR_043860
VAR_043860 disease not phenotype-associated
VAR_043861 commonName VAR_043861
VAR_043861 disease not phenotype-associated
VAR_043862 commonName VAR_043862
VAR_043862 disease not phenotype-associated
VAR_043863 commonName VAR_043863
VAR_043863 disease not phenotype-associated
VAR_043864 commonName VAR_043864
VAR_043864 disease not phenotype-associated
VAR_043865 commonName VAR_043865
VAR_043865 disease not phenotype-associated
VAR_043866 commonName VAR_043866
VAR_043866 disease not phenotype-associated
VAR_043867 commonName VAR_043867
VAR_043867 disease not phenotype-associated
VAR_043868 commonName VAR_043868
VAR_043868 disease not phenotype-associated
VAR_043870 commonName VAR_043870
VAR_043870 disease not phenotype-associated
VAR_043871 commonName VAR_043871
VAR_043871 disease not phenotype-associated
VAR_043872 commonName VAR_043872
VAR_043872 disease not phenotype-associated
VAR_043873 commonName VAR_043873
VAR_043873 disease not phenotype-associated
VAR_043878 commonName VAR_043878
VAR_043878 disease not phenotype-associated
VAR_043879 commonName VAR_043879
VAR_043879 disease not phenotype-associated
VAR_043880 commonName VAR_043880
VAR_043880 disease not phenotype-associated
VAR_043881 commonName VAR_043881
VAR_043881 disease not phenotype-associated
VAR_043882 commonName VAR_043882
VAR_043882 disease not phenotype-associated
VAR_043883 commonName VAR_043883
VAR_043883 disease not phenotype-associated
VAR_043884 commonName VAR_043884
VAR_043884 disease not phenotype-associated
VAR_043885 commonName VAR_043885
VAR_043885 disease not phenotype-associated
VAR_043886 commonName VAR_043886
VAR_043886 disease not phenotype-associated
VAR_043887 commonName VAR_043887
VAR_043887 disease not phenotype-associated
VAR_043888 commonName VAR_043888
VAR_043888 disease not phenotype-associated
VAR_043889 commonName VAR_043889
VAR_043889 disease not phenotype-associated
VAR_043890 commonName VAR_043890
VAR_043890 disease not phenotype-associated
VAR_043891 commonName VAR_043891
VAR_043891 disease not phenotype-associated
VAR_043892 commonName VAR_043892
VAR_043892 disease not phenotype-associated
VAR_043893 commonName VAR_043893
VAR_043894 commonName VAR_043894
VAR_043894 disease not phenotype-associated
VAR_043895 commonName VAR_043895
VAR_043896 commonName VAR_043896
VAR_043896 disease not phenotype-associated
VAR_043897 commonName VAR_043897
VAR_043897 disease not phenotype-associated
VAR_043898 commonName VAR_043898
VAR_043898 disease phenotype-associated
VAR_043898 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_043899 commonName VAR_043899
VAR_043899 disease phenotype-associated
VAR_043899 phenoCommon Fetal akinesia deformation sequence (FADS) [MIM:208150]
VAR_043900 commonName VAR_043900
VAR_043900 disease phenotype-associated
VAR_043900 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_043901 commonName VAR_043901
VAR_043901 disease phenotype-associated
VAR_043901 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_043902 commonName VAR_043902
VAR_043902 disease phenotype-associated
VAR_043902 phenoCommon Fetal akinesia deformation sequence (FADS) [MIM:208150]
VAR_043903 commonName VAR_043903
VAR_043903 disease phenotype-associated
VAR_043903 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_043904 commonName VAR_043904
VAR_043904 disease phenotype-associated
VAR_043904 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
VAR_043905 commonName VAR_043905
VAR_043905 disease phenotype-associated
VAR_043905 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
VAR_043906 commonName VAR_043906
VAR_043906 disease phenotype-associated
VAR_043906 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_043907 commonName VAR_043907
VAR_043907 disease phenotype-associated
VAR_043907 phenoCommon Central precocious puberty (CEPREPU) [MIM:176400]
VAR_043908 commonName VAR_043908
VAR_043908 disease not phenotype-associated
VAR_043909 commonName VAR_043909
VAR_043909 disease not phenotype-associated
VAR_043910 commonName VAR_043910
VAR_043912 commonName VAR_043912
VAR_043913 commonName VAR_043913
VAR_043914 commonName VAR_043914
VAR_043914 disease phenotype-associated
VAR_043914 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990]
VAR_043915 commonName VAR_043915
VAR_043915 disease phenotype-associated
VAR_043915 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990]
VAR_043915 phenoCommon Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]
VAR_043916 commonName VAR_043916
VAR_043916 disease phenotype-associated
VAR_043916 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990]
VAR_043924 commonName VAR_043924
VAR_043924 disease not phenotype-associated
VAR_043925 commonName VAR_043925
VAR_043925 disease not phenotype-associated
VAR_043926 commonName VAR_043926
VAR_043926 disease not phenotype-associated
VAR_043927 commonName VAR_043927
VAR_043927 disease not phenotype-associated
VAR_043928 commonName VAR_043928
VAR_043928 disease not phenotype-associated
VAR_043932 commonName VAR_043932
VAR_043932 disease not phenotype-associated
VAR_043933 commonName VAR_043933
VAR_043933 disease not phenotype-associated
VAR_043938 comment A colorectal cancer sample
VAR_043938 commonName VAR_043938
VAR_043939 commonName VAR_043939
VAR_043939 disease not phenotype-associated
VAR_043940 commonName VAR_043940
VAR_043940 disease not phenotype-associated
VAR_043941 commonName VAR_043941
VAR_043941 disease not phenotype-associated
VAR_043942 commonName VAR_043942
VAR_043942 disease not phenotype-associated
VAR_043943 comment Colorectal/endometrial cancer
VAR_043943 commonName VAR_043943
VAR_043943 disease phenotype-associated
VAR_043943 phenoCommon Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350]
VAR_043944 commonName VAR_043944
VAR_043945 commonName VAR_043945
VAR_043946 commonName VAR_043946
VAR_043947 commonName VAR_043947
VAR_043948 comment Breast cancer
VAR_043948 commonName VAR_043948
VAR_043949 comment Colorectal/endometrial cancer
VAR_043949 commonName VAR_043949
VAR_043950 commonName VAR_043950
VAR_043950 disease not phenotype-associated
VAR_043951 commonName VAR_043951
VAR_043952 commonName VAR_043952
VAR_043953 commonName VAR_043953
VAR_043954 commonName VAR_043954
VAR_043955 commonName VAR_043955
VAR_043956 commonName VAR_043956
VAR_043956 disease not phenotype-associated
VAR_043957 commonName VAR_043957
VAR_043958 commonName VAR_043958
VAR_043958 disease phenotype-associated
VAR_043958 phenoCommon Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350]
VAR_043959 commonName VAR_043959
VAR_043960 commonName VAR_043960
VAR_043961 commonName VAR_043961
VAR_043962 comment Colorectal/endometrial cancer
VAR_043962 commonName VAR_043962
VAR_043963 commonName VAR_043963
VAR_043964 commonName VAR_043964
VAR_043976 commonName VAR_043976
VAR_043976 disease not phenotype-associated
VAR_043977 commonName VAR_043977
VAR_043977 disease not phenotype-associated
VAR_043978 commonName VAR_043978
VAR_043978 disease not phenotype-associated
VAR_043979 commonName VAR_043979
VAR_043979 disease not phenotype-associated
VAR_043980 commonName VAR_043980
VAR_043980 disease not phenotype-associated
VAR_043981 commonName VAR_043981
VAR_043981 disease not phenotype-associated
VAR_043982 commonName VAR_043982
VAR_043982 disease not phenotype-associated
VAR_043986 commonName VAR_043986
VAR_043986 disease phenotype-associated
VAR_043986 phenoCommon Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]
VAR_043987 commonName VAR_043987
VAR_043987 disease phenotype-associated
VAR_043987 phenoCommon Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]
VAR_043988 commonName VAR_043988
VAR_043988 disease phenotype-associated
VAR_043988 phenoCommon Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]
VAR_043989 commonName VAR_043989
VAR_043989 disease phenotype-associated
VAR_043989 phenoCommon Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880]
VAR_043990 commonName VAR_043990
VAR_043990 disease not phenotype-associated
VAR_043991 commonName VAR_043991
VAR_043991 disease not phenotype-associated
VAR_043992 commonName VAR_043992
VAR_043992 disease not phenotype-associated
VAR_043993 commonName VAR_043993
VAR_043993 disease not phenotype-associated
VAR_044006 commonName VAR_044006
VAR_044006 disease not phenotype-associated
VAR_044011 commonName VAR_044011
VAR_044011 disease not phenotype-associated
VAR_044012 commonName VAR_044012
VAR_044012 disease not phenotype-associated
VAR_044013 commonName VAR_044013
VAR_044013 disease not phenotype-associated
VAR_044014 commonName VAR_044014
VAR_044014 disease not phenotype-associated
VAR_044016 commonName VAR_044016
VAR_044016 disease not phenotype-associated
VAR_044018 commonName VAR_044018
VAR_044018 disease not phenotype-associated
VAR_044020 comment Sporadic cancers
VAR_044020 commonName VAR_044020
VAR_044021 commonName VAR_044021
VAR_044021 disease not phenotype-associated
VAR_044022 commonName VAR_044022
VAR_044022 disease not phenotype-associated
VAR_044023 commonName VAR_044023
VAR_044023 disease not phenotype-associated
VAR_044024 commonName VAR_044024
VAR_044024 disease not phenotype-associated
VAR_044025 commonName VAR_044025
VAR_044025 disease not phenotype-associated
VAR_044032 commonName VAR_044032
VAR_044032 disease not phenotype-associated
VAR_044034 commonName VAR_044034
VAR_044034 disease not phenotype-associated
VAR_044035 commonName VAR_044035
VAR_044035 disease not phenotype-associated
VAR_044036 commonName VAR_044036
VAR_044036 disease not phenotype-associated
VAR_044037 commonName VAR_044037
VAR_044037 disease not phenotype-associated
VAR_044039 commonName VAR_044039
VAR_044039 disease phenotype-associated
VAR_044039 phenoCommon Brugada syndrome type 3 (BRGDA3) [MIM:611875]
VAR_044040 commonName VAR_044040
VAR_044040 disease phenotype-associated
VAR_044040 phenoCommon Brugada syndrome type 3 (BRGDA3) [MIM:611875]
VAR_044041 commonName VAR_044041
VAR_044041 disease phenotype-associated
VAR_044041 phenoCommon Brugada syndrome type 4 (BRGDA4) [MIM:611876]
VAR_044042 commonName VAR_044042
VAR_044042 disease not phenotype-associated
VAR_044043 commonName VAR_044043
VAR_044043 disease not phenotype-associated
VAR_044044 commonName VAR_044044
VAR_044044 disease phenotype-associated
VAR_044044 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_044045 commonName VAR_044045
VAR_044045 disease phenotype-associated
VAR_044045 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_044046 commonName VAR_044046
VAR_044046 disease phenotype-associated
VAR_044046 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_044047 commonName VAR_044047
VAR_044047 disease phenotype-associated
VAR_044047 phenoCommon Brugada syndrome type 2 (BRGDA2) [MIM:611777]
VAR_044048 commonName VAR_044048
VAR_044048 disease not phenotype-associated
VAR_044049 commonName VAR_044049
VAR_044049 disease not phenotype-associated
VAR_044050 commonName VAR_044050
VAR_044050 disease not phenotype-associated
VAR_044051 commonName VAR_044051
VAR_044051 disease not phenotype-associated
VAR_044052 commonName VAR_044052
VAR_044052 disease not phenotype-associated
VAR_044053 commonName VAR_044053
VAR_044053 disease not phenotype-associated
VAR_044054 commonName VAR_044054
VAR_044054 disease not phenotype-associated
VAR_044055 commonName VAR_044055
VAR_044055 disease not phenotype-associated
VAR_044056 commonName VAR_044056
VAR_044056 disease not phenotype-associated
VAR_044057 commonName VAR_044057
VAR_044057 disease not phenotype-associated
VAR_044058 commonName VAR_044058
VAR_044058 disease not phenotype-associated
VAR_044059 commonName VAR_044059
VAR_044059 disease not phenotype-associated
VAR_044060 commonName VAR_044060
VAR_044060 disease not phenotype-associated
VAR_044061 commonName VAR_044061
VAR_044061 disease not phenotype-associated
VAR_044062 commonName VAR_044062
VAR_044062 disease not phenotype-associated
VAR_044063 commonName VAR_044063
VAR_044063 disease not phenotype-associated
VAR_044066 commonName VAR_044066
VAR_044066 disease not phenotype-associated
VAR_044067 commonName VAR_044067
VAR_044067 disease not phenotype-associated
VAR_044082 commonName VAR_044082
VAR_044082 disease not phenotype-associated
VAR_044083 commonName VAR_044083
VAR_044083 disease not phenotype-associated
VAR_044084 commonName VAR_044084
VAR_044084 disease not phenotype-associated
VAR_044086 commonName VAR_044086
VAR_044086 disease phenotype-associated
VAR_044086 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044087 commonName VAR_044087
VAR_044087 disease phenotype-associated
VAR_044087 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044087 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]
VAR_044088 commonName VAR_044088
VAR_044088 disease phenotype-associated
VAR_044088 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044089 commonName VAR_044089
VAR_044089 disease phenotype-associated
VAR_044089 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044090 commonName VAR_044090
VAR_044090 disease phenotype-associated
VAR_044090 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044091 commonName VAR_044091
VAR_044091 disease not phenotype-associated
VAR_044092 commonName VAR_044092
VAR_044092 disease phenotype-associated
VAR_044092 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044093 commonName VAR_044093
VAR_044093 disease phenotype-associated
VAR_044093 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044094 commonName VAR_044094
VAR_044094 disease phenotype-associated
VAR_044094 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044095 commonName VAR_044095
VAR_044095 disease phenotype-associated
VAR_044095 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044096 commonName VAR_044096
VAR_044096 disease phenotype-associated
VAR_044096 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044096 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]
VAR_044097 commonName VAR_044097
VAR_044097 disease phenotype-associated
VAR_044097 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044098 commonName VAR_044098
VAR_044098 disease phenotype-associated
VAR_044098 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044099 commonName VAR_044099
VAR_044099 disease phenotype-associated
VAR_044099 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044100 commonName VAR_044100
VAR_044100 disease phenotype-associated
VAR_044100 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044101 commonName VAR_044101
VAR_044101 disease phenotype-associated
VAR_044101 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044102 commonName VAR_044102
VAR_044102 disease phenotype-associated
VAR_044102 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044103 commonName VAR_044103
VAR_044103 disease phenotype-associated
VAR_044103 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044104 commonName VAR_044104
VAR_044104 disease phenotype-associated
VAR_044104 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044105 commonName VAR_044105
VAR_044105 disease phenotype-associated
VAR_044105 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044106 commonName VAR_044106
VAR_044106 disease phenotype-associated
VAR_044106 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044107 commonName VAR_044107
VAR_044107 disease phenotype-associated
VAR_044107 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044108 commonName VAR_044108
VAR_044108 disease phenotype-associated
VAR_044108 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044109 commonName VAR_044109
VAR_044109 disease phenotype-associated
VAR_044109 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044110 commonName VAR_044110
VAR_044110 disease phenotype-associated
VAR_044110 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044111 commonName VAR_044111
VAR_044111 disease phenotype-associated
VAR_044111 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044112 commonName VAR_044112
VAR_044112 disease phenotype-associated
VAR_044112 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044113 commonName VAR_044113
VAR_044113 disease phenotype-associated
VAR_044113 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]
VAR_044116 commonName VAR_044116
VAR_044116 disease not phenotype-associated
VAR_044117 commonName VAR_044117
VAR_044117 disease not phenotype-associated
VAR_044118 commonName VAR_044118
VAR_044118 disease phenotype-associated
VAR_044118 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
VAR_044119 commonName VAR_044119
VAR_044119 disease not phenotype-associated
VAR_044121 commonName VAR_044121
VAR_044121 disease phenotype-associated
VAR_044121 phenoCommon Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]
VAR_044122 commonName VAR_044122
VAR_044122 disease not phenotype-associated
VAR_044124 commonName VAR_044124
VAR_044124 disease not phenotype-associated
VAR_044125 commonName VAR_044125
VAR_044125 disease not phenotype-associated
VAR_044126 commonName VAR_044126
VAR_044126 disease not phenotype-associated
VAR_044127 commonName VAR_044127
VAR_044127 disease not phenotype-associated
VAR_044128 commonName VAR_044128
VAR_044128 disease not phenotype-associated
VAR_044129 commonName VAR_044129
VAR_044129 disease not phenotype-associated
VAR_044130 commonName VAR_044130
VAR_044130 disease not phenotype-associated
VAR_044135 commonName VAR_044135
VAR_044135 disease not phenotype-associated
VAR_044136 commonName VAR_044136
VAR_044136 disease not phenotype-associated
VAR_044137 commonName VAR_044137
VAR_044137 disease not phenotype-associated
VAR_044138 commonName VAR_044138
VAR_044138 disease not phenotype-associated
VAR_044139 commonName VAR_044139
VAR_044139 disease not phenotype-associated
VAR_044140 commonName VAR_044140
VAR_044140 disease not phenotype-associated
VAR_044141 commonName VAR_044141
VAR_044141 disease not phenotype-associated
VAR_044142 commonName VAR_044142
VAR_044142 disease phenotype-associated
VAR_044142 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881]
VAR_044143 commonName VAR_044143
VAR_044143 disease phenotype-associated
VAR_044143 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881]
VAR_044144 commonName VAR_044144
VAR_044144 disease phenotype-associated
VAR_044144 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881]
VAR_044145 commonName VAR_044145
VAR_044145 disease phenotype-associated
VAR_044145 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044146 commonName VAR_044146
VAR_044146 disease phenotype-associated
VAR_044146 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044147 commonName VAR_044147
VAR_044147 disease phenotype-associated
VAR_044147 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044148 commonName VAR_044148
VAR_044148 disease phenotype-associated
VAR_044148 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044149 commonName VAR_044149
VAR_044149 disease phenotype-associated
VAR_044149 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044150 commonName VAR_044150
VAR_044150 disease phenotype-associated
VAR_044150 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044151 commonName VAR_044151
VAR_044151 disease phenotype-associated
VAR_044151 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044152 commonName VAR_044152
VAR_044152 disease phenotype-associated
VAR_044152 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044153 commonName VAR_044153
VAR_044153 disease phenotype-associated
VAR_044153 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044154 commonName VAR_044154
VAR_044155 commonName VAR_044155
VAR_044155 disease phenotype-associated
VAR_044155 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044156 commonName VAR_044156
VAR_044156 disease phenotype-associated
VAR_044156 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044157 commonName VAR_044157
VAR_044157 disease phenotype-associated
VAR_044157 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
VAR_044158 commonName VAR_044158
VAR_044158 disease not phenotype-associated
VAR_044159 commonName VAR_044159
VAR_044159 disease phenotype-associated
VAR_044159 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_044160 commonName VAR_044160
VAR_044160 disease phenotype-associated
VAR_044160 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_044161 commonName VAR_044161
VAR_044161 disease phenotype-associated
VAR_044161 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_044162 commonName VAR_044162
VAR_044163 commonName VAR_044163
VAR_044164 commonName VAR_044164
VAR_044164 disease not phenotype-associated
VAR_044165 commonName VAR_044165
VAR_044165 disease not phenotype-associated
VAR_044166 commonName VAR_044166
VAR_044166 disease not phenotype-associated
VAR_044167 commonName VAR_044167
VAR_044167 disease not phenotype-associated
VAR_044168 commonName VAR_044168
VAR_044168 disease phenotype-associated
VAR_044168 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044169 commonName VAR_044169
VAR_044169 disease phenotype-associated
VAR_044169 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044170 commonName VAR_044170
VAR_044170 disease not phenotype-associated
VAR_044171 commonName VAR_044171
VAR_044171 disease phenotype-associated
VAR_044171 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044172 commonName VAR_044172
VAR_044172 disease phenotype-associated
VAR_044172 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044173 commonName VAR_044173
VAR_044173 disease not phenotype-associated
VAR_044174 commonName VAR_044174
VAR_044174 disease phenotype-associated
VAR_044174 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044175 commonName VAR_044175
VAR_044175 disease phenotype-associated
VAR_044175 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618]
VAR_044177 commonName VAR_044177
VAR_044177 disease not phenotype-associated
VAR_044178 commonName VAR_044178
VAR_044178 disease not phenotype-associated
VAR_044179 commonName VAR_044179
VAR_044179 disease not phenotype-associated
VAR_044180 commonName VAR_044180
VAR_044180 disease not phenotype-associated
VAR_044181 commonName VAR_044181
VAR_044181 disease not phenotype-associated
VAR_044182 commonName VAR_044182
VAR_044182 disease not phenotype-associated
VAR_044183 commonName VAR_044183
VAR_044183 disease not phenotype-associated
VAR_044184 comment A colorectal cancer sample
VAR_044184 commonName VAR_044184
VAR_044185 commonName VAR_044185
VAR_044185 disease not phenotype-associated
VAR_044186 commonName VAR_044186
VAR_044186 disease not phenotype-associated
VAR_044187 commonName VAR_044187
VAR_044187 disease not phenotype-associated
VAR_044188 commonName VAR_044188
VAR_044188 disease not phenotype-associated
VAR_044189 commonName VAR_044189
VAR_044189 disease not phenotype-associated
VAR_044190 commonName VAR_044190
VAR_044190 disease not phenotype-associated
VAR_044191 commonName VAR_044191
VAR_044191 disease not phenotype-associated
VAR_044195 commonName VAR_044195
VAR_044195 disease not phenotype-associated
VAR_044196 commonName VAR_044196
VAR_044196 disease not phenotype-associated
VAR_044197 commonName VAR_044197
VAR_044197 disease not phenotype-associated
VAR_044198 commonName VAR_044198
VAR_044198 disease not phenotype-associated
VAR_044199 commonName VAR_044199
VAR_044199 disease not phenotype-associated
VAR_044200 commonName VAR_044200
VAR_044200 disease not phenotype-associated
VAR_044201 commonName VAR_044201
VAR_044201 disease not phenotype-associated
VAR_044202 commonName VAR_044202
VAR_044202 disease not phenotype-associated
VAR_044203 commonName VAR_044203
VAR_044203 disease not phenotype-associated
VAR_044204 commonName VAR_044204
VAR_044204 disease not phenotype-associated
VAR_044205 commonName VAR_044205
VAR_044205 disease not phenotype-associated
VAR_044206 commonName VAR_044206
VAR_044206 disease not phenotype-associated
VAR_044207 commonName VAR_044207
VAR_044207 disease not phenotype-associated
VAR_044208 commonName VAR_044208
VAR_044208 disease not phenotype-associated
VAR_044209 commonName VAR_044209
VAR_044209 disease not phenotype-associated
VAR_044225 commonName VAR_044225
VAR_044225 disease not phenotype-associated
VAR_044226 commonName VAR_044226
VAR_044226 disease phenotype-associated
VAR_044226 phenoCommon Fechtner syndrome (FTNS) [MIM:153640]
VAR_044227 commonName VAR_044227
VAR_044227 disease not phenotype-associated
VAR_044229 commonName VAR_044229
VAR_044229 disease not phenotype-associated
VAR_044230 commonName VAR_044230
VAR_044230 disease phenotype-associated
VAR_044230 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044231 commonName VAR_044231
VAR_044231 disease phenotype-associated
VAR_044231 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044232 commonName VAR_044232
VAR_044232 disease phenotype-associated
VAR_044232 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044233 commonName VAR_044233
VAR_044233 disease phenotype-associated
VAR_044233 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044234 commonName VAR_044234
VAR_044234 disease phenotype-associated
VAR_044234 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044235 commonName VAR_044235
VAR_044235 disease phenotype-associated
VAR_044235 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044236 commonName VAR_044236
VAR_044236 disease phenotype-associated
VAR_044236 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044237 commonName VAR_044237
VAR_044237 disease phenotype-associated
VAR_044237 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044240 commonName VAR_044240
VAR_044240 disease phenotype-associated
VAR_044240 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044241 commonName VAR_044241
VAR_044241 disease phenotype-associated
VAR_044241 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044242 commonName VAR_044242
VAR_044242 disease phenotype-associated
VAR_044242 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044243 commonName VAR_044243
VAR_044243 disease phenotype-associated
VAR_044243 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044244 commonName VAR_044244
VAR_044244 disease phenotype-associated
VAR_044244 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044245 commonName VAR_044245
VAR_044245 disease phenotype-associated
VAR_044245 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044246 commonName VAR_044246
VAR_044246 disease phenotype-associated
VAR_044246 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044247 commonName VAR_044247
VAR_044247 disease phenotype-associated
VAR_044247 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044248 commonName VAR_044248
VAR_044248 disease phenotype-associated
VAR_044248 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044249 commonName VAR_044249
VAR_044249 disease phenotype-associated
VAR_044249 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044250 commonName VAR_044250
VAR_044250 disease phenotype-associated
VAR_044250 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044251 commonName VAR_044251
VAR_044251 disease phenotype-associated
VAR_044251 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044252 commonName VAR_044252
VAR_044252 disease phenotype-associated
VAR_044252 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044253 commonName VAR_044253
VAR_044253 disease phenotype-associated
VAR_044253 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044254 commonName VAR_044254
VAR_044254 disease phenotype-associated
VAR_044254 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044255 commonName VAR_044255
VAR_044255 disease phenotype-associated
VAR_044255 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044256 commonName VAR_044256
VAR_044256 disease phenotype-associated
VAR_044256 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044257 commonName VAR_044257
VAR_044257 disease phenotype-associated
VAR_044257 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044258 commonName VAR_044258
VAR_044258 disease phenotype-associated
VAR_044258 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044259 commonName VAR_044259
VAR_044259 disease phenotype-associated
VAR_044259 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044261 commonName VAR_044261
VAR_044261 disease phenotype-associated
VAR_044261 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044262 commonName VAR_044262
VAR_044262 disease phenotype-associated
VAR_044262 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044263 commonName VAR_044263
VAR_044263 disease phenotype-associated
VAR_044263 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044264 commonName VAR_044264
VAR_044264 disease phenotype-associated
VAR_044264 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044265 commonName VAR_044265
VAR_044265 disease phenotype-associated
VAR_044265 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044266 commonName VAR_044266
VAR_044266 disease phenotype-associated
VAR_044266 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044267 commonName VAR_044267
VAR_044267 disease phenotype-associated
VAR_044267 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044268 commonName VAR_044268
VAR_044268 disease phenotype-associated
VAR_044268 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044269 commonName VAR_044269
VAR_044269 disease phenotype-associated
VAR_044269 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044270 commonName VAR_044270
VAR_044270 disease phenotype-associated
VAR_044270 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044271 commonName VAR_044271
VAR_044271 disease phenotype-associated
VAR_044271 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044272 commonName VAR_044272
VAR_044272 disease phenotype-associated
VAR_044272 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044273 commonName VAR_044273
VAR_044273 disease phenotype-associated
VAR_044273 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044274 commonName VAR_044274
VAR_044274 disease phenotype-associated
VAR_044274 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044275 commonName VAR_044275
VAR_044275 disease phenotype-associated
VAR_044275 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044276 commonName VAR_044276
VAR_044276 disease phenotype-associated
VAR_044276 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044277 commonName VAR_044277
VAR_044277 disease phenotype-associated
VAR_044277 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044278 commonName VAR_044278
VAR_044278 disease phenotype-associated
VAR_044278 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044279 commonName VAR_044279
VAR_044279 disease phenotype-associated
VAR_044279 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044280 commonName VAR_044280
VAR_044280 disease phenotype-associated
VAR_044280 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044281 commonName VAR_044281
VAR_044281 disease phenotype-associated
VAR_044281 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044282 commonName VAR_044282
VAR_044282 disease phenotype-associated
VAR_044282 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044284 commonName VAR_044284
VAR_044284 disease phenotype-associated
VAR_044284 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044285 commonName VAR_044285
VAR_044285 disease phenotype-associated
VAR_044285 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044286 commonName VAR_044286
VAR_044286 disease phenotype-associated
VAR_044286 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044287 commonName VAR_044287
VAR_044287 disease phenotype-associated
VAR_044287 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044288 commonName VAR_044288
VAR_044288 disease phenotype-associated
VAR_044288 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044289 commonName VAR_044289
VAR_044289 disease phenotype-associated
VAR_044289 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044290 commonName VAR_044290
VAR_044290 disease phenotype-associated
VAR_044290 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044291 commonName VAR_044291
VAR_044291 disease phenotype-associated
VAR_044291 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044292 commonName VAR_044292
VAR_044292 disease phenotype-associated
VAR_044292 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044293 commonName VAR_044293
VAR_044293 disease phenotype-associated
VAR_044293 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044294 commonName VAR_044294
VAR_044294 disease phenotype-associated
VAR_044294 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044295 commonName VAR_044295
VAR_044295 disease phenotype-associated
VAR_044295 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044296 commonName VAR_044296
VAR_044296 disease phenotype-associated
VAR_044296 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044297 commonName VAR_044297
VAR_044297 disease phenotype-associated
VAR_044297 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044298 commonName VAR_044298
VAR_044298 disease phenotype-associated
VAR_044298 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044299 commonName VAR_044299
VAR_044299 disease phenotype-associated
VAR_044299 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044300 commonName VAR_044300
VAR_044300 disease phenotype-associated
VAR_044300 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044301 commonName VAR_044301
VAR_044301 disease phenotype-associated
VAR_044301 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044302 commonName VAR_044302
VAR_044302 disease phenotype-associated
VAR_044302 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044303 commonName VAR_044303
VAR_044303 disease phenotype-associated
VAR_044303 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044304 commonName VAR_044304
VAR_044304 disease phenotype-associated
VAR_044304 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044305 commonName VAR_044305
VAR_044305 disease phenotype-associated
VAR_044305 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044306 commonName VAR_044306
VAR_044306 disease phenotype-associated
VAR_044306 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044307 commonName VAR_044307
VAR_044307 disease phenotype-associated
VAR_044307 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044308 commonName VAR_044308
VAR_044308 disease phenotype-associated
VAR_044308 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044309 commonName VAR_044309
VAR_044309 disease phenotype-associated
VAR_044309 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044310 commonName VAR_044310
VAR_044310 disease phenotype-associated
VAR_044310 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044311 commonName VAR_044311
VAR_044311 disease phenotype-associated
VAR_044311 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044312 commonName VAR_044312
VAR_044312 disease phenotype-associated
VAR_044312 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044313 commonName VAR_044313
VAR_044313 disease phenotype-associated
VAR_044313 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044314 commonName VAR_044314
VAR_044314 disease not phenotype-associated
VAR_044315 commonName VAR_044315
VAR_044315 disease phenotype-associated
VAR_044315 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044316 commonName VAR_044316
VAR_044316 disease phenotype-associated
VAR_044316 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044317 commonName VAR_044317
VAR_044317 disease phenotype-associated
VAR_044317 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]
VAR_044319 commonName VAR_044319
VAR_044319 disease not phenotype-associated
VAR_044321 commonName VAR_044321
VAR_044321 disease phenotype-associated
VAR_044321 phenoCommon Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]
VAR_044322 commonName VAR_044322
VAR_044322 disease not phenotype-associated
VAR_044325 comment A colorectal cancer sample
VAR_044325 commonName VAR_044325
VAR_044326 commonName VAR_044326
VAR_044326 disease phenotype-associated
VAR_044326 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150]
VAR_044327 commonName VAR_044327
VAR_044327 disease phenotype-associated
VAR_044327 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150]
VAR_044328 commonName VAR_044328
VAR_044328 disease phenotype-associated
VAR_044328 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150]
VAR_044329 commonName VAR_044329
VAR_044329 disease phenotype-associated
VAR_044329 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_044330 commonName VAR_044330
VAR_044330 disease not phenotype-associated
VAR_044331 commonName VAR_044331
VAR_044331 disease not phenotype-associated
VAR_044332 commonName VAR_044332
VAR_044332 disease not phenotype-associated
VAR_044333 commonName VAR_044333
VAR_044333 disease not phenotype-associated
VAR_044334 commonName VAR_044334
VAR_044334 disease phenotype-associated
VAR_044334 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]
VAR_044335 commonName VAR_044335
VAR_044335 disease not phenotype-associated
VAR_044336 commonName VAR_044336
VAR_044336 disease not phenotype-associated
VAR_044337 commonName VAR_044337
VAR_044337 disease not phenotype-associated
VAR_044338 commonName VAR_044338
VAR_044338 disease not phenotype-associated
VAR_044339 commonName VAR_044339
VAR_044339 disease not phenotype-associated
VAR_044340 commonName VAR_044340
VAR_044340 disease not phenotype-associated
VAR_044345 commonName VAR_044345
VAR_044345 disease not phenotype-associated
VAR_044346 comment A colorectal cancer sample
VAR_044346 commonName VAR_044346
VAR_044348 commonName VAR_044348
VAR_044348 disease not phenotype-associated
VAR_044349 commonName VAR_044349
VAR_044349 disease not phenotype-associated
VAR_044350 commonName VAR_044350
VAR_044350 disease not phenotype-associated
VAR_044351 commonName VAR_044351
VAR_044351 disease not phenotype-associated
VAR_044352 commonName VAR_044352
VAR_044352 disease not phenotype-associated
VAR_044353 commonName VAR_044353
VAR_044353 disease not phenotype-associated
VAR_044354 commonName VAR_044354
VAR_044354 disease not phenotype-associated
VAR_044355 commonName VAR_044355
VAR_044355 disease not phenotype-associated
VAR_044356 commonName VAR_044356
VAR_044356 disease not phenotype-associated
VAR_044357 commonName VAR_044357
VAR_044357 disease not phenotype-associated
VAR_044358 commonName VAR_044358
VAR_044358 disease not phenotype-associated
VAR_044359 commonName VAR_044359
VAR_044359 disease not phenotype-associated
VAR_044362 commonName VAR_044362
VAR_044362 disease not phenotype-associated
VAR_044363 commonName VAR_044363
VAR_044363 disease not phenotype-associated
VAR_044364 commonName VAR_044364
VAR_044364 disease not phenotype-associated
VAR_044365 commonName VAR_044365
VAR_044365 disease not phenotype-associated
VAR_044366 commonName VAR_044366
VAR_044366 disease not phenotype-associated
VAR_044367 commonName VAR_044367
VAR_044367 disease not phenotype-associated
VAR_044368 commonName VAR_044368
VAR_044368 disease not phenotype-associated
VAR_044369 commonName VAR_044369
VAR_044369 disease not phenotype-associated
VAR_044370 commonName VAR_044370
VAR_044370 disease not phenotype-associated
VAR_044371 commonName VAR_044371
VAR_044371 disease not phenotype-associated
VAR_044372 commonName VAR_044372
VAR_044373 commonName VAR_044373
VAR_044374 commonName VAR_044374
VAR_044374 disease not phenotype-associated
VAR_044375 commonName VAR_044375
VAR_044375 disease not phenotype-associated
VAR_044377 commonName VAR_044377
VAR_044377 disease not phenotype-associated
VAR_044378 commonName VAR_044378
VAR_044378 disease not phenotype-associated
VAR_044379 commonName VAR_044379
VAR_044379 disease not phenotype-associated
VAR_044380 commonName VAR_044380
VAR_044380 disease not phenotype-associated
VAR_044381 commonName VAR_044381
VAR_044381 disease not phenotype-associated
VAR_044382 commonName VAR_044382
VAR_044382 disease phenotype-associated
VAR_044382 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
VAR_044383 commonName VAR_044383
VAR_044383 disease phenotype-associated
VAR_044383 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
VAR_044384 commonName VAR_044384
VAR_044384 disease phenotype-associated
VAR_044384 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
VAR_044385 commonName VAR_044385
VAR_044385 disease phenotype-associated
VAR_044385 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
VAR_044386 commonName VAR_044386
VAR_044386 disease phenotype-associated
VAR_044386 phenoCommon Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
VAR_044387 commonName VAR_044387
VAR_044387 disease not phenotype-associated
VAR_044388 commonName VAR_044388
VAR_044388 disease phenotype-associated
VAR_044388 phenoCommon Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]
VAR_044392 commonName VAR_044392
VAR_044392 disease phenotype-associated
VAR_044392 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044393 commonName VAR_044393
VAR_044393 disease phenotype-associated
VAR_044393 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044394 commonName VAR_044394
VAR_044394 disease phenotype-associated
VAR_044394 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044395 commonName VAR_044395
VAR_044395 disease phenotype-associated
VAR_044395 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044396 commonName VAR_044396
VAR_044396 disease phenotype-associated
VAR_044396 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044397 commonName VAR_044397
VAR_044397 disease phenotype-associated
VAR_044397 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044398 commonName VAR_044398
VAR_044398 disease phenotype-associated
VAR_044398 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044399 commonName VAR_044399
VAR_044399 disease not phenotype-associated
VAR_044400 commonName VAR_044400
VAR_044400 disease phenotype-associated
VAR_044400 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044401 commonName VAR_044401
VAR_044401 disease phenotype-associated
VAR_044401 phenoCommon Renal adysplasia (RADYS) [MIM:191830]
VAR_044402 commonName VAR_044402
VAR_044402 disease phenotype-associated
VAR_044402 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016]
VAR_044403 commonName VAR_044403
VAR_044403 disease phenotype-associated
VAR_044403 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016]
VAR_044404 commonName VAR_044404
VAR_044404 disease phenotype-associated
VAR_044404 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016]
VAR_044409 commonName VAR_044409
VAR_044409 disease phenotype-associated
VAR_044409 phenoCommon Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]
VAR_044410 commonName VAR_044410
VAR_044410 disease phenotype-associated
VAR_044410 phenoCommon Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]
VAR_044417 commonName VAR_044417
VAR_044417 disease not phenotype-associated
VAR_044418 commonName VAR_044418
VAR_044418 disease not phenotype-associated
VAR_044419 commonName VAR_044419
VAR_044419 disease not phenotype-associated
VAR_044420 commonName VAR_044420
VAR_044420 disease not phenotype-associated
VAR_044421 commonName VAR_044421
VAR_044421 disease not phenotype-associated
VAR_044422 commonName VAR_044422
VAR_044422 disease not phenotype-associated
VAR_044423 commonName VAR_044423
VAR_044423 disease not phenotype-associated
VAR_044424 commonName VAR_044424
VAR_044424 disease phenotype-associated
VAR_044424 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300]
VAR_044425 commonName VAR_044425
VAR_044425 disease not phenotype-associated
VAR_044426 commonName VAR_044426
VAR_044426 disease not phenotype-associated
VAR_044427 commonName VAR_044427
VAR_044427 disease not phenotype-associated
VAR_044428 commonName VAR_044428
VAR_044428 disease not phenotype-associated
VAR_044429 commonName VAR_044429
VAR_044429 disease not phenotype-associated
VAR_044430 commonName VAR_044430
VAR_044430 disease phenotype-associated
VAR_044430 phenoCommon Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
VAR_044432 commonName VAR_044432
VAR_044432 disease not phenotype-associated
VAR_044434 commonName VAR_044434
VAR_044434 disease not phenotype-associated
VAR_044435 commonName VAR_044435
VAR_044435 disease phenotype-associated
VAR_044435 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_044436 commonName VAR_044436
VAR_044436 disease phenotype-associated
VAR_044436 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_044437 commonName VAR_044437
VAR_044437 disease phenotype-associated
VAR_044437 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_044438 commonName VAR_044438
VAR_044438 disease phenotype-associated
VAR_044438 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400]
VAR_044439 commonName VAR_044439
VAR_044440 commonName VAR_044440
VAR_044440 disease phenotype-associated
VAR_044440 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688]
VAR_044441 commonName VAR_044441
VAR_044441 disease phenotype-associated
VAR_044441 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688]
VAR_044442 commonName VAR_044442
VAR_044442 disease phenotype-associated
VAR_044442 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688]
VAR_044443 commonName VAR_044443
VAR_044443 disease phenotype-associated
VAR_044443 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688]
VAR_044444 commonName VAR_044444
VAR_044444 disease not phenotype-associated
VAR_044445 commonName VAR_044445
VAR_044445 disease phenotype-associated
VAR_044445 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688]
VAR_044450 commonName VAR_044450
VAR_044450 disease phenotype-associated
VAR_044450 phenoCommon Thrombocytopenia type 4 (THC4) [MIM:612004]
VAR_044451 commonName VAR_044451
VAR_044451 disease phenotype-associated
VAR_044451 phenoCommon Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]
VAR_044452 commonName VAR_044452
VAR_044452 disease phenotype-associated
VAR_044452 phenoCommon Branchiootic syndrome type 1 (BOS1) [MIM:602588]
VAR_044453 commonName VAR_044453
HbVar.682 ethnic Malay
VAR_044453 disease not phenotype-associated
VAR_044454 commonName VAR_044454
VAR_044454 disease phenotype-associated
VAR_044454 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044455 commonName VAR_044455
VAR_044455 disease phenotype-associated
VAR_044455 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044456 commonName VAR_044456
VAR_044456 disease phenotype-associated
VAR_044456 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044457 commonName VAR_044457
VAR_044457 disease phenotype-associated
VAR_044457 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044458 commonName VAR_044458
VAR_044458 disease phenotype-associated
VAR_044458 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044459 commonName VAR_044459
VAR_044459 disease phenotype-associated
VAR_044459 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044460 commonName VAR_044460
VAR_044460 disease phenotype-associated
VAR_044460 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044461 commonName VAR_044461
VAR_044461 disease phenotype-associated
VAR_044461 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_044496 commonName VAR_044496
VAR_044496 disease not phenotype-associated
VAR_044501 commonName VAR_044501
VAR_044501 disease not phenotype-associated
VAR_044502 commonName VAR_044502
VAR_044502 disease not phenotype-associated
VAR_044503 commonName VAR_044503
VAR_044503 disease not phenotype-associated
VAR_044504 commonName VAR_044504
VAR_044505 commonName VAR_044505
VAR_044505 disease not phenotype-associated
VAR_044506 commonName VAR_044506
VAR_044506 disease not phenotype-associated
VAR_044507 commonName VAR_044507
VAR_044507 disease not phenotype-associated
VAR_044508 commonName VAR_044508
VAR_044508 disease not phenotype-associated
VAR_044509 commonName VAR_044509
VAR_044509 disease not phenotype-associated
VAR_044510 commonName VAR_044510
VAR_044510 disease not phenotype-associated
VAR_044511 commonName VAR_044511
VAR_044511 disease not phenotype-associated
VAR_044512 commonName VAR_044512
VAR_044512 disease not phenotype-associated
VAR_044513 commonName VAR_044513
VAR_044513 disease not phenotype-associated
VAR_044514 commonName VAR_044514
VAR_044514 disease not phenotype-associated
VAR_044515 commonName VAR_044515
VAR_044515 disease not phenotype-associated
VAR_044516 commonName VAR_044516
VAR_044516 disease not phenotype-associated
VAR_044517 commonName VAR_044517
VAR_044517 disease not phenotype-associated
VAR_044518 commonName VAR_044518
VAR_044518 disease not phenotype-associated
VAR_044519 commonName VAR_044519
VAR_044519 disease not phenotype-associated
VAR_044520 commonName VAR_044520
VAR_044520 disease not phenotype-associated
VAR_044521 commonName VAR_044521
VAR_044521 disease not phenotype-associated
VAR_044522 commonName VAR_044522
VAR_044522 disease not phenotype-associated
VAR_044523 commonName VAR_044523
VAR_044523 disease not phenotype-associated
VAR_044524 commonName VAR_044524
VAR_044524 disease not phenotype-associated
VAR_044525 commonName VAR_044525
VAR_044525 disease not phenotype-associated
VAR_044526 commonName VAR_044526
VAR_044526 disease not phenotype-associated
VAR_044527 commonName VAR_044527
VAR_044527 disease not phenotype-associated
VAR_044528 commonName VAR_044528
VAR_044528 disease not phenotype-associated
VAR_044529 commonName VAR_044529
VAR_044529 disease not phenotype-associated
VAR_044530 commonName VAR_044530
VAR_044530 disease not phenotype-associated
VAR_044531 commonName VAR_044531
VAR_044531 disease not phenotype-associated
VAR_044532 commonName VAR_044532
VAR_044532 disease not phenotype-associated
VAR_044533 commonName VAR_044533
VAR_044533 disease not phenotype-associated
VAR_044534 commonName VAR_044534
VAR_044534 disease not phenotype-associated
VAR_044535 commonName VAR_044535
VAR_044535 disease not phenotype-associated
VAR_044536 commonName VAR_044536
VAR_044536 disease not phenotype-associated
VAR_044537 commonName VAR_044537
VAR_044537 disease not phenotype-associated
VAR_044538 commonName VAR_044538
VAR_044538 disease not phenotype-associated
VAR_044541 commonName VAR_044541
VAR_044541 disease not phenotype-associated
VAR_044542 commonName VAR_044542
VAR_044542 disease not phenotype-associated
VAR_044543 comment A sporadic cancer
VAR_044543 commonName VAR_044543
VAR_044544 comment A sporadic cancer
VAR_044544 commonName VAR_044544
VAR_044545 comment A sporadic cancer
VAR_044545 commonName VAR_044545
VAR_044546 comment A sporadic cancer
VAR_044546 commonName VAR_044546
VAR_044547 comment Sporadic cancers
VAR_044547 commonName VAR_044547
VAR_044548 comment Sporadic cancers
VAR_044548 commonName VAR_044548
VAR_044549 comment A sporadic cancer
VAR_044549 commonName VAR_044549
VAR_044550 comment A sporadic cancer
VAR_044550 commonName VAR_044550
VAR_044551 comment A sporadic cancer
VAR_044551 commonName VAR_044551
VAR_044552 comment A sporadic cancer
VAR_044552 commonName VAR_044552
VAR_044553 comment A sporadic cancer
VAR_044553 commonName VAR_044553
VAR_044554 comment Sporadic cancers
VAR_044554 commonName VAR_044554
VAR_044555 comment A sporadic cancer
VAR_044555 commonName VAR_044555
VAR_044556 comment A sporadic cancer
VAR_044556 commonName VAR_044556
VAR_044557 comment A sporadic cancer
VAR_044557 commonName VAR_044557
VAR_044558 comment A sporadic cancer
VAR_044558 commonName VAR_044558
VAR_044559 comment A sporadic cancer
VAR_044559 commonName VAR_044559
VAR_044560 comment A sporadic cancer
VAR_044560 commonName VAR_044560
VAR_044561 comment A sporadic cancer
VAR_044561 commonName VAR_044561
VAR_044562 comment A sporadic cancer
VAR_044562 commonName VAR_044562
VAR_044563 comment A sporadic cancer
VAR_044563 commonName VAR_044563
VAR_044564 comment A sporadic cancer
VAR_044564 commonName VAR_044564
VAR_044565 comment A sporadic cancer
VAR_044565 commonName VAR_044565
VAR_044566 comment A sporadic cancer
VAR_044566 commonName VAR_044566
VAR_044567 comment Sporadic cancers
VAR_044567 commonName VAR_044567
VAR_044568 comment Sporadic cancers
VAR_044568 commonName VAR_044568
VAR_044569 comment Sporadic cancers
VAR_044569 commonName VAR_044569
VAR_044570 comment A sporadic cancer
VAR_044570 commonName VAR_044570
VAR_044571 comment Sporadic cancers
VAR_044571 commonName VAR_044571
VAR_044572 comment A sporadic cancer
VAR_044572 commonName VAR_044572
VAR_044573 comment Sporadic cancers
VAR_044573 commonName VAR_044573
VAR_044574 comment A sporadic cancer
VAR_044574 commonName VAR_044574
VAR_044575 comment A sporadic cancer
VAR_044575 commonName VAR_044575
VAR_044576 comment A sporadic cancer
VAR_044576 commonName VAR_044576
HbVar.682 phenoCommon Hemoglobin variant
VAR_044577 comment A sporadic cancer
VAR_044577 commonName VAR_044577
VAR_044578 comment Sporadic cancers
VAR_044578 commonName VAR_044578
VAR_044579 comment A sporadic cancer
VAR_044579 commonName VAR_044579
VAR_044580 comment A sporadic cancer
VAR_044580 commonName VAR_044580
VAR_044581 comment A sporadic cancer
VAR_044581 commonName VAR_044581
VAR_044582 comment Sporadic cancers
VAR_044582 commonName VAR_044582
VAR_044583 comment Sporadic cancers
VAR_044583 commonName VAR_044583
VAR_044584 comment Sporadic cancers
VAR_044584 commonName VAR_044584
VAR_044585 comment A sporadic cancer
VAR_044585 commonName VAR_044585
VAR_044586 comment Sporadic cancers
VAR_044586 commonName VAR_044586
VAR_044587 comment Sporadic cancers
VAR_044587 commonName VAR_044587
VAR_044588 comment A sporadic cancer
VAR_044588 commonName VAR_044588
VAR_044589 comment A sporadic cancer
VAR_044589 commonName VAR_044589
VAR_044590 comment A sporadic cancer
VAR_044590 commonName VAR_044590
VAR_044591 comment A sporadic cancer
VAR_044591 commonName VAR_044591
VAR_044592 comment A sporadic cancer
VAR_044592 commonName VAR_044592
VAR_044593 comment A sporadic cancer
VAR_044593 commonName VAR_044593
VAR_044594 comment Sporadic cancers
VAR_044594 commonName VAR_044594
VAR_044595 comment A sporadic cancer
VAR_044595 commonName VAR_044595
VAR_044596 comment Sporadic cancers
VAR_044596 commonName VAR_044596
VAR_044597 comment Sporadic cancers
VAR_044597 commonName VAR_044597
VAR_044598 comment A sporadic cancer
VAR_044598 commonName VAR_044598
VAR_044599 comment A sporadic cancer
VAR_044599 commonName VAR_044599
VAR_044600 comment Sporadic cancers
VAR_044600 commonName VAR_044600
VAR_044601 comment A sporadic cancer
VAR_044601 commonName VAR_044601
VAR_044602 comment A sporadic cancer
VAR_044602 commonName VAR_044602
VAR_044603 comment A sporadic cancer
VAR_044603 commonName VAR_044603
VAR_044604 comment A sporadic cancer
VAR_044604 commonName VAR_044604
VAR_044605 comment A sporadic cancer
VAR_044605 commonName VAR_044605
VAR_044606 comment Sporadic cancers
VAR_044606 commonName VAR_044606
VAR_044607 comment Sporadic cancers
VAR_044607 commonName VAR_044607
VAR_044608 comment A sporadic cancer
VAR_044608 commonName VAR_044608
VAR_044609 comment Sporadic cancers
VAR_044609 commonName VAR_044609
VAR_044610 comment Sporadic cancers
VAR_044610 commonName VAR_044610
VAR_044611 comment A sporadic cancer
VAR_044611 commonName VAR_044611
VAR_044612 comment A sporadic cancer
VAR_044612 commonName VAR_044612
VAR_044613 comment A sporadic cancer
VAR_044613 commonName VAR_044613
VAR_044614 comment Sporadic cancers
VAR_044614 commonName VAR_044614
VAR_044615 comment Sporadic cancers
VAR_044615 commonName VAR_044615
VAR_044616 comment A sporadic cancer
VAR_044616 commonName VAR_044616
VAR_044617 comment Sporadic cancers
VAR_044617 commonName VAR_044617
VAR_044618 comment A sporadic cancer
VAR_044618 commonName VAR_044618
VAR_044619 comment A sporadic cancer
VAR_044619 commonName VAR_044619
VAR_044620 comment Sporadic cancers
VAR_044620 commonName VAR_044620
VAR_044621 commonName VAR_044621
VAR_044621 disease phenotype-associated
VAR_044621 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044622 comment Sporadic cancers
VAR_044622 commonName VAR_044622
VAR_044623 comment A sporadic cancer
VAR_044623 commonName VAR_044623
VAR_044624 comment Sporadic cancers
VAR_044624 commonName VAR_044624
VAR_044625 comment Sporadic cancers
VAR_044625 commonName VAR_044625
VAR_044626 comment Sporadic cancers
VAR_044626 commonName VAR_044626
VAR_044627 comment Sporadic cancers
VAR_044627 commonName VAR_044627
VAR_044628 comment Sporadic cancers
VAR_044628 commonName VAR_044628
VAR_044629 comment A sporadic cancer
VAR_044629 commonName VAR_044629
VAR_044630 comment A sporadic cancer
VAR_044630 commonName VAR_044630
VAR_044631 comment Sporadic cancers
VAR_044631 commonName VAR_044631
VAR_044632 comment Sporadic cancers
VAR_044632 commonName VAR_044632
VAR_044633 comment Sporadic cancers
VAR_044633 commonName VAR_044633
VAR_044634 comment Sporadic cancers
VAR_044634 commonName VAR_044634
VAR_044635 comment A sporadic cancer
VAR_044635 commonName VAR_044635
VAR_044636 comment A sporadic cancer
VAR_044636 commonName VAR_044636
VAR_044637 comment A sporadic cancer
VAR_044637 commonName VAR_044637
VAR_044638 comment A sporadic cancer
VAR_044638 commonName VAR_044638
VAR_044639 comment A sporadic cancer
VAR_044639 commonName VAR_044639
VAR_044640 comment A sporadic cancer
VAR_044640 commonName VAR_044640
VAR_044641 comment A sporadic cancer
VAR_044641 commonName VAR_044641
VAR_044642 comment Sporadic cancers
VAR_044642 commonName VAR_044642
VAR_044643 comment Sporadic cancers
VAR_044643 commonName VAR_044643
VAR_044644 comment A sporadic cancer
VAR_044644 commonName VAR_044644
VAR_044645 comment A sporadic cancer
VAR_044645 commonName VAR_044645
VAR_044646 comment Sporadic cancers
VAR_044646 commonName VAR_044646
VAR_044647 comment A sporadic cancer
VAR_044647 commonName VAR_044647
VAR_044648 comment A sporadic cancer
VAR_044648 commonName VAR_044648
VAR_044649 comment A sporadic cancer
VAR_044649 commonName VAR_044649
VAR_044650 comment Familial cancer not matching LFS
VAR_044650 commonName VAR_044650
VAR_044651 comment Sporadic cancers
VAR_044651 commonName VAR_044651
VAR_044652 comment Sporadic cancers
VAR_044652 commonName VAR_044652
VAR_044653 comment Sporadic cancers
VAR_044653 commonName VAR_044653
VAR_044654 comment A sporadic cancer
VAR_044654 commonName VAR_044654
VAR_044655 comment A sporadic cancer
VAR_044655 commonName VAR_044655
VAR_044656 comment A sporadic cancer
VAR_044656 commonName VAR_044656
VAR_044657 comment Sporadic cancers
VAR_044657 commonName VAR_044657
VAR_044658 comment Sporadic cancers
VAR_044658 commonName VAR_044658
VAR_044659 comment Sporadic cancers
VAR_044659 commonName VAR_044659
VAR_044660 comment A sporadic cancer
VAR_044660 commonName VAR_044660
VAR_044661 commonName VAR_044661
VAR_044661 disease phenotype-associated
VAR_044661 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044662 comment Sporadic cancers
VAR_044662 commonName VAR_044662
VAR_044663 comment Sporadic cancers
VAR_044663 commonName VAR_044663
VAR_044664 comment A sporadic cancer
VAR_044664 commonName VAR_044664
VAR_044665 comment Sporadic cancers
VAR_044665 commonName VAR_044665
VAR_044666 comment A sporadic cancer
VAR_044666 commonName VAR_044666
VAR_044667 comment A familial cancer not matching LFS
VAR_044667 commonName VAR_044667
VAR_044668 comment A sporadic cancer
VAR_044668 commonName VAR_044668
VAR_044669 comment Sporadic cancers
VAR_044669 commonName VAR_044669
VAR_044670 comment A sporadic cancer
VAR_044670 commonName VAR_044670
VAR_044671 comment A sporadic cancer
VAR_044671 commonName VAR_044671
VAR_044672 comment Sporadic cancers
VAR_044672 commonName VAR_044672
VAR_044673 comment Sporadic cancers
VAR_044673 commonName VAR_044673
VAR_044674 comment A sporadic cancer
VAR_044674 commonName VAR_044674
VAR_044675 comment Sporadic cancers
VAR_044675 commonName VAR_044675
VAR_044676 comment A sporadic cancer
VAR_044676 commonName VAR_044676
VAR_044677 comment Sporadic cancers
VAR_044677 commonName VAR_044677
VAR_044678 comment A sporadic cancer
VAR_044678 commonName VAR_044678
VAR_044679 comment A sporadic cancer
VAR_044679 commonName VAR_044679
VAR_044680 comment Sporadic cancers
VAR_044680 commonName VAR_044680
VAR_044681 comment Sporadic cancers
VAR_044681 commonName VAR_044681
VAR_044682 comment Sporadic cancers
VAR_044682 commonName VAR_044682
VAR_044683 comment Sporadic cancers
VAR_044683 commonName VAR_044683
VAR_044684 comment Sporadic cancers
VAR_044684 commonName VAR_044684
VAR_044685 comment A sporadic cancer
VAR_044685 commonName VAR_044685
VAR_044686 comment Sporadic cancers
VAR_044686 commonName VAR_044686
VAR_044687 comment Sporadic cancers
VAR_044687 commonName VAR_044687
VAR_044688 comment Sporadic cancers
VAR_044688 commonName VAR_044688
VAR_044689 comment Sporadic cancers
VAR_044689 commonName VAR_044689
VAR_044690 comment A sporadic cancer
VAR_044690 commonName VAR_044690
VAR_044691 comment A sporadic cancer
VAR_044691 commonName VAR_044691
VAR_044692 comment Sporadic cancers
VAR_044692 commonName VAR_044692
VAR_044693 comment Sporadic cancers
VAR_044693 commonName VAR_044693
VAR_044694 comment A sporadic cancer
VAR_044694 commonName VAR_044694
VAR_044695 comment Sporadic cancers
VAR_044695 commonName VAR_044695
VAR_044696 comment A sporadic cancer
VAR_044696 commonName VAR_044696
VAR_044697 comment A sporadic cancer
VAR_044697 commonName VAR_044697
VAR_044698 comment A sporadic cancer
VAR_044698 commonName VAR_044698
VAR_044699 comment Sporadic cancers
VAR_044699 commonName VAR_044699
VAR_044700 comment Sporadic cancers
VAR_044700 commonName VAR_044700
VAR_044701 comment A sporadic cancer
VAR_044701 commonName VAR_044701
VAR_044702 comment Sporadic cancers
VAR_044702 commonName VAR_044702
VAR_044703 comment Sporadic cancers
VAR_044703 commonName VAR_044703
VAR_044704 comment A sporadic cancer
VAR_044704 commonName VAR_044704
VAR_044705 comment A sporadic cancer
VAR_044705 commonName VAR_044705
VAR_044706 comment A sporadic cancer
VAR_044706 commonName VAR_044706
VAR_044707 comment A sporadic cancer
VAR_044707 commonName VAR_044707
VAR_044708 comment Sporadic cancers
VAR_044708 commonName VAR_044708
VAR_044709 comment Sporadic cancers
VAR_044709 commonName VAR_044709
VAR_044710 comment A sporadic cancer
VAR_044710 commonName VAR_044710
VAR_044711 comment A sporadic cancer
VAR_044711 commonName VAR_044711
VAR_044712 comment A sporadic cancer
VAR_044712 commonName VAR_044712
VAR_044713 comment Sporadic cancers
VAR_044713 commonName VAR_044713
VAR_044714 comment A sporadic cancer
VAR_044714 commonName VAR_044714
VAR_044715 comment Sporadic cancers
VAR_044715 commonName VAR_044715
VAR_044716 comment A familial cancer not matching LFS
VAR_044716 commonName VAR_044716
VAR_044717 comment A sporadic cancer
VAR_044717 commonName VAR_044717
VAR_044718 comment Sporadic cancers
VAR_044718 commonName VAR_044718
VAR_044719 comment Sporadic cancers
VAR_044719 commonName VAR_044719
VAR_044720 comment A sporadic cancer
VAR_044720 commonName VAR_044720
VAR_044721 comment Sporadic cancers
VAR_044721 commonName VAR_044721
VAR_044722 comment Sporadic cancers
VAR_044722 commonName VAR_044722
VAR_044723 comment Sporadic cancers
VAR_044723 commonName VAR_044723
VAR_044724 comment Sporadic cancers
VAR_044724 commonName VAR_044724
VAR_044725 comment Sporadic cancers
VAR_044725 commonName VAR_044725
VAR_044726 comment Sporadic cancers
VAR_044726 commonName VAR_044726
VAR_044727 comment A sporadic cancer
VAR_044727 commonName VAR_044727
VAR_044728 comment Sporadic cancers
VAR_044728 commonName VAR_044728
VAR_044729 comment Sporadic cancers
VAR_044729 commonName VAR_044729
VAR_044730 comment Sporadic cancers
VAR_044730 commonName VAR_044730
VAR_044731 comment Sporadic cancers
VAR_044731 commonName VAR_044731
VAR_044732 comment A sporadic cancer
VAR_044732 commonName VAR_044732
VAR_044733 comment Sporadic cancers
VAR_044733 commonName VAR_044733
VAR_044734 comment Sporadic cancers
VAR_044734 commonName VAR_044734
VAR_044735 comment A sporadic cancer
VAR_044735 commonName VAR_044735
VAR_044736 comment Sporadic cancers
VAR_044736 commonName VAR_044736
VAR_044737 comment Sporadic cancers
VAR_044737 commonName VAR_044737
VAR_044738 comment A sporadic cancer
VAR_044738 commonName VAR_044738
VAR_044739 comment Sporadic cancers
VAR_044739 commonName VAR_044739
VAR_044740 commonName VAR_044740
VAR_044740 disease phenotype-associated
VAR_044740 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044741 comment Sporadic cancers
VAR_044741 commonName VAR_044741
VAR_044742 comment Sporadic cancers
VAR_044742 commonName VAR_044742
VAR_044743 comment Sporadic cancers
VAR_044743 commonName VAR_044743
VAR_044744 comment Sporadic cancers
VAR_044744 commonName VAR_044744
VAR_044745 comment Sporadic cancers
VAR_044745 commonName VAR_044745
VAR_044746 comment Sporadic cancers
VAR_044746 commonName VAR_044746
VAR_044747 commonName VAR_044747
VAR_044747 disease phenotype-associated
VAR_044747 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044748 comment Sporadic cancers
VAR_044748 commonName VAR_044748
VAR_044749 comment Sporadic cancers
VAR_044749 commonName VAR_044749
VAR_044750 comment Sporadic cancers
VAR_044750 commonName VAR_044750
VAR_044751 comment Sporadic cancers
VAR_044751 commonName VAR_044751
VAR_044752 comment Sporadic cancers
VAR_044752 commonName VAR_044752
VAR_044753 comment Sporadic cancers
VAR_044753 commonName VAR_044753
VAR_044754 comment Sporadic cancers
VAR_044754 commonName VAR_044754
VAR_044755 comment Sporadic cancers
VAR_044755 commonName VAR_044755
VAR_044756 comment Sporadic cancers
VAR_044756 commonName VAR_044756
VAR_044757 comment Sporadic cancers
VAR_044757 commonName VAR_044757
VAR_044758 comment Sporadic cancers
VAR_044758 commonName VAR_044758
VAR_044759 comment Sporadic cancers
VAR_044759 commonName VAR_044759
VAR_044760 comment Sporadic cancers
VAR_044760 commonName VAR_044760
VAR_044761 comment Sporadic cancers
VAR_044761 commonName VAR_044761
VAR_044762 comment Sporadic cancers
VAR_044762 commonName VAR_044762
VAR_044763 comment Sporadic cancers
VAR_044763 commonName VAR_044763
VAR_044764 commonName VAR_044764
VAR_044764 disease phenotype-associated
VAR_044764 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044765 comment Sporadic cancers
VAR_044765 commonName VAR_044765
VAR_044766 comment Sporadic cancers
VAR_044766 commonName VAR_044766
VAR_044767 comment Sporadic cancers
VAR_044767 commonName VAR_044767
VAR_044768 comment Sporadic cancers
VAR_044768 commonName VAR_044768
VAR_044769 comment Sporadic cancers
VAR_044769 commonName VAR_044769
VAR_044770 comment Sporadic cancers
VAR_044770 commonName VAR_044770
VAR_044771 comment Sporadic cancers
VAR_044771 commonName VAR_044771
VAR_044772 comment A sporadic cancer
VAR_044772 commonName VAR_044772
VAR_044773 comment A sporadic cancer
VAR_044773 commonName VAR_044773
VAR_044774 comment Sporadic cancers
VAR_044774 commonName VAR_044774
VAR_044775 comment Sporadic cancers
VAR_044775 commonName VAR_044775
VAR_044776 comment Sporadic cancers
VAR_044776 commonName VAR_044776
VAR_044777 comment Sporadic cancers
VAR_044777 commonName VAR_044777
VAR_044778 comment Sporadic cancers
VAR_044778 commonName VAR_044778
VAR_044779 comment Sporadic cancers
VAR_044779 commonName VAR_044779
VAR_044780 comment Sporadic cancers
VAR_044780 commonName VAR_044780
VAR_044781 comment A sporadic cancer
VAR_044781 commonName VAR_044781
VAR_044782 comment Sporadic cancers
VAR_044782 commonName VAR_044782
VAR_044783 comment Sporadic cancers
VAR_044783 commonName VAR_044783
VAR_044784 comment Sporadic cancers
VAR_044784 commonName VAR_044784
VAR_044785 comment Sporadic cancers
VAR_044785 commonName VAR_044785
VAR_044786 comment Sporadic cancers
VAR_044786 commonName VAR_044786
VAR_044787 comment Sporadic cancers
VAR_044787 commonName VAR_044787
VAR_044788 comment Sporadic cancers
VAR_044788 commonName VAR_044788
VAR_044789 comment Sporadic cancers
VAR_044789 commonName VAR_044789
VAR_044790 commonName VAR_044790
VAR_044790 disease phenotype-associated
VAR_044790 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044791 comment Sporadic cancers
VAR_044791 commonName VAR_044791
VAR_044792 comment Sporadic cancers
VAR_044792 commonName VAR_044792
VAR_044793 comment Sporadic cancers
VAR_044793 commonName VAR_044793
VAR_044794 comment Sporadic cancers
VAR_044794 commonName VAR_044794
VAR_044795 comment A sporadic cancer
VAR_044795 commonName VAR_044795
VAR_044796 comment Sporadic cancers
VAR_044796 commonName VAR_044796
VAR_044797 comment Sporadic cancers
VAR_044797 commonName VAR_044797
VAR_044798 comment Sporadic cancers
VAR_044798 commonName VAR_044798
VAR_044799 comment Sporadic cancers
VAR_044799 commonName VAR_044799
VAR_044800 comment Sporadic cancers
VAR_044800 commonName VAR_044800
VAR_044801 comment Sporadic cancers
VAR_044801 commonName VAR_044801
VAR_044802 comment A sporadic cancer
VAR_044802 commonName VAR_044802
VAR_044803 comment Sporadic cancers
VAR_044803 commonName VAR_044803
VAR_044804 comment A sporadic cancer
VAR_044804 commonName VAR_044804
VAR_044805 comment Sporadic cancers
VAR_044805 commonName VAR_044805
VAR_044806 comment A sporadic cancer
VAR_044806 commonName VAR_044806
VAR_044807 comment Sporadic cancers
VAR_044807 commonName VAR_044807
VAR_044808 comment Sporadic cancers
VAR_044808 commonName VAR_044808
VAR_044809 comment Sporadic cancers
VAR_044809 commonName VAR_044809
VAR_044810 comment Sporadic cancers
VAR_044810 commonName VAR_044810
VAR_044811 comment Sporadic cancers
VAR_044811 commonName VAR_044811
VAR_044812 comment A sporadic cancer
VAR_044812 commonName VAR_044812
VAR_044813 comment Sporadic cancers
VAR_044813 commonName VAR_044813
VAR_044814 comment Sporadic cancers
VAR_044814 commonName VAR_044814
VAR_044815 comment A sporadic cancer
VAR_044815 commonName VAR_044815
VAR_044816 comment A sporadic cancer
VAR_044816 commonName VAR_044816
VAR_044817 comment A sporadic cancer
VAR_044817 commonName VAR_044817
VAR_044818 comment Sporadic cancers
VAR_044818 commonName VAR_044818
VAR_044819 comment Sporadic cancers
VAR_044819 commonName VAR_044819
VAR_044820 comment Sporadic cancers
VAR_044820 commonName VAR_044820
VAR_044821 comment Sporadic cancers
VAR_044821 commonName VAR_044821
VAR_044822 comment Sporadic cancers
VAR_044822 commonName VAR_044822
VAR_044823 comment Sporadic cancers
VAR_044823 commonName VAR_044823
VAR_044824 comment Sporadic cancers
VAR_044824 commonName VAR_044824
VAR_044825 comment Sporadic cancers
VAR_044825 commonName VAR_044825
VAR_044826 comment A sporadic cancer
VAR_044826 commonName VAR_044826
VAR_044827 comment Sporadic cancers
VAR_044827 commonName VAR_044827
VAR_044828 comment A sporadic cancer
VAR_044828 commonName VAR_044828
VAR_044829 comment Sporadic cancers
VAR_044829 commonName VAR_044829
VAR_044830 comment Sporadic cancers
VAR_044830 commonName VAR_044830
VAR_044831 comment A sporadic cancer
VAR_044831 commonName VAR_044831
VAR_044832 comment Sporadic cancers
VAR_044832 commonName VAR_044832
VAR_044833 comment Sporadic cancers
VAR_044833 commonName VAR_044833
VAR_044834 comment Sporadic cancers
VAR_044834 commonName VAR_044834
VAR_044835 comment A sporadic cancer
VAR_044835 commonName VAR_044835
VAR_044836 commonName VAR_044836
VAR_044836 disease phenotype-associated
VAR_044836 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044837 comment Sporadic cancers
VAR_044837 commonName VAR_044837
VAR_044838 comment Sporadic cancers
VAR_044838 commonName VAR_044838
VAR_044839 comment Sporadic cancers
VAR_044839 commonName VAR_044839
VAR_044840 comment Sporadic cancers
VAR_044840 commonName VAR_044840
VAR_044841 commonName VAR_044841
VAR_044841 disease phenotype-associated
VAR_044841 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044842 comment Sporadic cancers
VAR_044842 commonName VAR_044842
VAR_044843 comment Sporadic cancers
VAR_044843 commonName VAR_044843
VAR_044844 comment Sporadic cancers
VAR_044844 commonName VAR_044844
VAR_044845 comment Sporadic cancers
VAR_044845 commonName VAR_044845
VAR_044846 comment Sporadic cancers
VAR_044846 commonName VAR_044846
VAR_044847 comment Sporadic cancers
VAR_044847 commonName VAR_044847
VAR_044848 comment Sporadic cancers
VAR_044848 commonName VAR_044848
VAR_044849 comment A sporadic cancer
VAR_044849 commonName VAR_044849
VAR_044850 comment Sporadic cancers
VAR_044850 commonName VAR_044850
VAR_044851 comment Sporadic cancers
VAR_044851 commonName VAR_044851
VAR_044852 comment Sporadic cancers
VAR_044852 commonName VAR_044852
VAR_044853 comment Sporadic cancers
VAR_044853 commonName VAR_044853
VAR_044854 comment Sporadic cancers
VAR_044854 commonName VAR_044854
VAR_044855 comment Sporadic cancers
VAR_044855 commonName VAR_044855
VAR_044856 comment Sporadic cancers
VAR_044856 commonName VAR_044856
VAR_044857 comment Sporadic cancers
VAR_044857 commonName VAR_044857
VAR_044858 comment A sporadic cancer
VAR_044858 commonName VAR_044858
VAR_044859 comment Sporadic cancers
VAR_044859 commonName VAR_044859
VAR_044860 comment Sporadic cancers
VAR_044860 commonName VAR_044860
VAR_044861 comment Sporadic cancers
VAR_044861 commonName VAR_044861
VAR_044862 comment Sporadic cancers
VAR_044862 commonName VAR_044862
VAR_044863 comment Sporadic cancers
VAR_044863 commonName VAR_044863
VAR_044864 comment Sporadic cancers
VAR_044864 commonName VAR_044864
VAR_044865 comment Sporadic cancers
VAR_044865 commonName VAR_044865
VAR_044866 comment Sporadic cancers
VAR_044866 commonName VAR_044866
VAR_044867 comment A breast cancer with no family history
VAR_044867 commonName VAR_044867
VAR_044868 comment Sporadic cancers
VAR_044868 commonName VAR_044868
VAR_044869 comment Sporadic cancers
VAR_044869 commonName VAR_044869
VAR_044870 comment A sporadic cancer
VAR_044870 commonName VAR_044870
VAR_044871 comment Sporadic cancers
VAR_044871 commonName VAR_044871
VAR_044872 comment Sporadic cancers
VAR_044872 commonName VAR_044872
VAR_044873 comment Sporadic cancers
VAR_044873 commonName VAR_044873
VAR_044874 comment Sporadic cancers
VAR_044874 commonName VAR_044874
VAR_044875 comment Sporadic cancers
VAR_044875 commonName VAR_044875
VAR_044876 comment Sporadic cancers
VAR_044876 commonName VAR_044876
VAR_044877 comment Sporadic cancers
VAR_044877 commonName VAR_044877
VAR_044878 comment A sporadic cancer
VAR_044878 commonName VAR_044878
VAR_044879 comment Sporadic cancers
VAR_044879 commonName VAR_044879
VAR_044880 comment Sporadic cancers
VAR_044880 commonName VAR_044880
VAR_044881 comment A sporadic cancer
VAR_044881 commonName VAR_044881
VAR_044882 comment Sporadic cancers
VAR_044882 commonName VAR_044882
VAR_044883 comment Sporadic cancers
VAR_044883 commonName VAR_044883
VAR_044884 comment Sporadic cancers
VAR_044884 commonName VAR_044884
VAR_044885 commonName VAR_044885
VAR_044885 disease phenotype-associated
VAR_044885 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044886 comment Sporadic cancers
VAR_044886 commonName VAR_044886
VAR_044887 comment Sporadic cancers
VAR_044887 commonName VAR_044887
VAR_044888 comment Sporadic cancers
VAR_044888 commonName VAR_044888
VAR_044889 comment Sporadic cancers
VAR_044889 commonName VAR_044889
VAR_044890 comment Sporadic cancers
VAR_044890 commonName VAR_044890
VAR_044891 comment Sporadic cancers
VAR_044891 commonName VAR_044891
VAR_044892 comment Sporadic cancers
VAR_044892 commonName VAR_044892
VAR_044893 comment Sporadic cancers
VAR_044893 commonName VAR_044893
VAR_044894 comment Sporadic cancers
VAR_044894 commonName VAR_044894
VAR_044895 comment Sporadic cancers
VAR_044895 commonName VAR_044895
VAR_044896 comment Sporadic cancers
VAR_044896 commonName VAR_044896
VAR_044897 comment A sporadic cancer
VAR_044897 commonName VAR_044897
VAR_044898 comment A sporadic cancer
VAR_044898 commonName VAR_044898
VAR_044899 comment A sporadic cancer
VAR_044899 commonName VAR_044899
VAR_044900 comment Sporadic cancers
VAR_044900 commonName VAR_044900
VAR_044901 comment Sporadic cancers
VAR_044901 commonName VAR_044901
VAR_044902 comment Sporadic cancers
VAR_044902 commonName VAR_044902
VAR_044903 comment A sporadic cancer
VAR_044903 commonName VAR_044903
VAR_044904 comment Sporadic cancers
VAR_044904 commonName VAR_044904
VAR_044905 comment Sporadic cancers
VAR_044905 commonName VAR_044905
VAR_044906 commonName VAR_044906
VAR_044906 disease phenotype-associated
VAR_044906 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044907 comment Sporadic cancers
VAR_044907 commonName VAR_044907
VAR_044908 comment Sporadic cancers
VAR_044908 commonName VAR_044908
VAR_044909 comment Sporadic cancers
VAR_044909 commonName VAR_044909
VAR_044910 comment Sporadic cancers
VAR_044910 commonName VAR_044910
VAR_044911 commonName VAR_044911
VAR_044911 disease phenotype-associated
VAR_044911 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044912 comment Sporadic cancers
VAR_044912 commonName VAR_044912
VAR_044913 comment Sporadic cancers
VAR_044913 commonName VAR_044913
VAR_044914 comment A sporadic cancer
VAR_044914 commonName VAR_044914
VAR_044915 comment Sporadic cancers
VAR_044915 commonName VAR_044915
VAR_044916 comment A sporadic cancer
VAR_044916 commonName VAR_044916
VAR_044917 comment Sporadic cancers
VAR_044917 commonName VAR_044917
VAR_044918 comment Sporadic cancers
VAR_044918 commonName VAR_044918
VAR_044919 comment Sporadic cancers
VAR_044919 commonName VAR_044919
VAR_044920 comment Sporadic cancers
VAR_044920 commonName VAR_044920
VAR_044921 comment Sporadic cancers
VAR_044921 commonName VAR_044921
VAR_044922 comment A sporadic cancer
VAR_044922 commonName VAR_044922
VAR_044923 comment Sporadic cancers
VAR_044923 commonName VAR_044923
VAR_044924 comment Sporadic cancers
VAR_044924 commonName VAR_044924
VAR_044925 comment A sporadic cancer
VAR_044925 commonName VAR_044925
VAR_044926 comment Sporadic cancers
VAR_044926 commonName VAR_044926
VAR_044927 comment A sporadic cancer
VAR_044927 commonName VAR_044927
VAR_044928 comment Sporadic cancers
VAR_044928 commonName VAR_044928
VAR_044929 comment Sporadic cancers
VAR_044929 commonName VAR_044929
VAR_044930 comment Sporadic cancers
VAR_044930 commonName VAR_044930
VAR_044931 comment Sporadic cancers
VAR_044931 commonName VAR_044931
VAR_044932 comment Sporadic cancers
VAR_044932 commonName VAR_044932
VAR_044933 comment Sporadic cancers
VAR_044933 commonName VAR_044933
VAR_044934 comment Sporadic cancers
VAR_044934 commonName VAR_044934
VAR_044935 comment Sporadic cancers
VAR_044935 commonName VAR_044935
VAR_044936 comment Sporadic cancers
VAR_044936 commonName VAR_044936
VAR_044937 comment Sporadic cancers
VAR_044937 commonName VAR_044937
VAR_044938 comment Sporadic cancers
VAR_044938 commonName VAR_044938
VAR_044939 commonName VAR_044939
VAR_044939 disease phenotype-associated
VAR_044939 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044940 comment A sporadic cancer
VAR_044940 commonName VAR_044940
VAR_044941 comment Sporadic cancers
VAR_044941 commonName VAR_044941
VAR_044942 comment A sporadic cancer
VAR_044942 commonName VAR_044942
VAR_044943 commonName VAR_044943
VAR_044943 disease phenotype-associated
VAR_044943 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044944 comment Sporadic cancers
VAR_044944 commonName VAR_044944
VAR_044945 comment A sporadic cancer
VAR_044945 commonName VAR_044945
VAR_044946 commonName VAR_044946
VAR_044946 disease phenotype-associated
VAR_044946 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044947 comment Sporadic cancers
VAR_044947 commonName VAR_044947
VAR_044948 commonName VAR_044948
VAR_044948 disease phenotype-associated
VAR_044948 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_044949 comment A familial cancer not matching LFS
VAR_044949 commonName VAR_044949
VAR_044950 comment Sporadic cancers
VAR_044950 commonName VAR_044950
VAR_044951 comment Sporadic cancers
VAR_044951 commonName VAR_044951
VAR_044952 comment Sporadic cancers
VAR_044952 commonName VAR_044952
VAR_044953 comment Sporadic cancers
VAR_044953 commonName VAR_044953
VAR_044954 comment Sporadic cancers
VAR_044954 commonName VAR_044954
VAR_044955 comment Sporadic cancers
VAR_044955 commonName VAR_044955
VAR_044956 comment Sporadic cancers
VAR_044956 commonName VAR_044956
VAR_044957 comment Sporadic cancers
VAR_044957 commonName VAR_044957
VAR_044958 comment A sporadic cancer
VAR_044958 commonName VAR_044958
VAR_044959 comment Sporadic cancers
VAR_044959 commonName VAR_044959
VAR_044960 comment Sporadic cancers
VAR_044960 commonName VAR_044960
VAR_044961 comment A sporadic cancer
VAR_044961 commonName VAR_044961
VAR_044962 comment Sporadic cancers
VAR_044962 commonName VAR_044962
VAR_044963 comment A sporadic cancer
VAR_044963 commonName VAR_044963
VAR_044964 comment A sporadic cancer
VAR_044964 commonName VAR_044964
VAR_044965 comment Sporadic cancers
VAR_044965 commonName VAR_044965
VAR_044966 comment Sporadic cancers
VAR_044966 commonName VAR_044966
VAR_044967 comment Sporadic cancers
VAR_044967 commonName VAR_044967
VAR_044968 comment Sporadic cancers
VAR_044968 commonName VAR_044968
VAR_044969 comment Sporadic cancers
VAR_044969 commonName VAR_044969
VAR_044970 comment Sporadic cancers
VAR_044970 commonName VAR_044970
VAR_044971 comment Sporadic cancers
VAR_044971 commonName VAR_044971
VAR_044972 comment A sporadic cancer
VAR_044972 commonName VAR_044972
VAR_044973 comment Sporadic cancers
VAR_044973 commonName VAR_044973
VAR_044974 comment A sporadic cancer
VAR_044974 commonName VAR_044974
VAR_044975 comment Sporadic cancers
VAR_044975 commonName VAR_044975
VAR_044976 comment A sporadic cancer
VAR_044976 commonName VAR_044976
VAR_044977 comment Sporadic cancers
VAR_044977 commonName VAR_044977
VAR_044978 comment A familial cancer not matching LFS
VAR_044978 commonName VAR_044978
VAR_044979 comment Sporadic cancers
VAR_044979 commonName VAR_044979
VAR_044980 comment A sporadic cancer
VAR_044980 commonName VAR_044980
VAR_044981 comment Sporadic cancers
VAR_044981 commonName VAR_044981
VAR_044982 comment Sporadic cancers
VAR_044982 commonName VAR_044982
VAR_044983 comment Sporadic cancers
VAR_044983 commonName VAR_044983
VAR_044984 comment Sporadic cancers
VAR_044984 commonName VAR_044984
VAR_044985 comment Sporadic cancers
VAR_044985 commonName VAR_044985
VAR_044986 comment Sporadic cancers
VAR_044986 commonName VAR_044986
VAR_044987 comment Sporadic cancers
VAR_044987 commonName VAR_044987
VAR_044988 comment Sporadic cancers
VAR_044988 commonName VAR_044988
VAR_044989 comment A sporadic cancer
VAR_044989 commonName VAR_044989
VAR_044990 comment Sporadic cancers
VAR_044990 commonName VAR_044990
VAR_044991 comment Sporadic cancers
VAR_044991 commonName VAR_044991
VAR_044992 comment Sporadic cancers
VAR_044992 commonName VAR_044992
VAR_044993 comment Sporadic cancers
VAR_044993 commonName VAR_044993
VAR_044994 comment Sporadic cancers
VAR_044994 commonName VAR_044994
VAR_044995 comment Sporadic cancers
VAR_044995 commonName VAR_044995
VAR_044996 comment Sporadic cancers
VAR_044996 commonName VAR_044996
VAR_044997 comment Sporadic cancers
VAR_044997 commonName VAR_044997
VAR_044998 comment Sporadic cancers
VAR_044998 commonName VAR_044998
VAR_044999 comment Sporadic cancers
VAR_044999 commonName VAR_044999
VAR_045000 comment Sporadic cancers
VAR_045000 commonName VAR_045000
VAR_045001 comment Sporadic cancers
VAR_045001 commonName VAR_045001
VAR_045002 comment Sporadic cancers
VAR_045002 commonName VAR_045002
VAR_045003 comment Sporadic cancers
VAR_045003 commonName VAR_045003
VAR_045004 comment A sporadic cancer
VAR_045004 commonName VAR_045004
VAR_045005 comment Sporadic cancers
VAR_045005 commonName VAR_045005
VAR_045006 comment Sporadic cancers
VAR_045006 commonName VAR_045006
VAR_045007 commonName VAR_045007
VAR_045007 disease phenotype-associated
VAR_045007 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045008 comment Sporadic cancers
VAR_045008 commonName VAR_045008
VAR_045009 comment A sporadic cancer
VAR_045009 commonName VAR_045009
VAR_045010 comment A familial cancer not matching LFS
VAR_045010 commonName VAR_045010
VAR_045011 comment Sporadic cancers
VAR_045011 commonName VAR_045011
VAR_045012 comment Sporadic cancers
VAR_045012 commonName VAR_045012
VAR_045013 commonName VAR_045013
VAR_045013 disease phenotype-associated
VAR_045013 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045014 comment A sporadic cancer
VAR_045014 commonName VAR_045014
VAR_045015 comment Sporadic cancers
VAR_045015 commonName VAR_045015
VAR_045016 comment Sporadic cancers
VAR_045016 commonName VAR_045016
VAR_045017 comment A sporadic cancer
VAR_045017 commonName VAR_045017
VAR_045018 comment A sporadic cancer
VAR_045018 commonName VAR_045018
VAR_045019 comment Sporadic cancers
VAR_045019 commonName VAR_045019
VAR_045020 comment Sporadic cancers
VAR_045020 commonName VAR_045020
VAR_045021 comment Sporadic cancers
VAR_045021 commonName VAR_045021
VAR_045022 comment Sporadic cancers
VAR_045022 commonName VAR_045022
VAR_045023 comment Sporadic cancers
VAR_045023 commonName VAR_045023
VAR_045024 comment A sporadic cancer
VAR_045024 commonName VAR_045024
VAR_045025 comment Sporadic cancers
VAR_045025 commonName VAR_045025
VAR_045026 comment A sporadic cancer
VAR_045026 commonName VAR_045026
VAR_045027 comment Sporadic cancers
VAR_045027 commonName VAR_045027
VAR_045028 comment A sporadic cancer
VAR_045028 commonName VAR_045028
VAR_045029 comment A sporadic cancer
VAR_045029 commonName VAR_045029
VAR_045030 comment Sporadic cancers
VAR_045030 commonName VAR_045030
VAR_045031 comment Sporadic cancers
VAR_045031 commonName VAR_045031
VAR_045032 comment Sporadic cancers
VAR_045032 commonName VAR_045032
VAR_045033 comment Sporadic cancers
VAR_045033 commonName VAR_045033
VAR_045034 comment Sporadic cancers
VAR_045034 commonName VAR_045034
VAR_045035 comment Sporadic cancers
VAR_045035 commonName VAR_045035
VAR_045036 comment Sporadic cancers
VAR_045036 commonName VAR_045036
VAR_045037 comment Sporadic cancers
VAR_045037 commonName VAR_045037
VAR_045038 comment Sporadic cancers
VAR_045038 commonName VAR_045038
VAR_045039 comment Sporadic cancers
VAR_045039 commonName VAR_045039
VAR_045040 comment Sporadic cancers
VAR_045040 commonName VAR_045040
VAR_045041 comment Sporadic cancers
VAR_045041 commonName VAR_045041
VAR_045042 comment Sporadic cancers
VAR_045042 commonName VAR_045042
VAR_045043 comment Sporadic cancers
VAR_045043 commonName VAR_045043
VAR_045044 comment A sporadic cancer
VAR_045044 commonName VAR_045044
VAR_045045 comment A sporadic cancer
VAR_045045 commonName VAR_045045
VAR_045046 comment Sporadic cancers
VAR_045046 commonName VAR_045046
VAR_045047 comment Sporadic cancers
VAR_045047 commonName VAR_045047
VAR_045048 comment Sporadic cancers
VAR_045048 commonName VAR_045048
VAR_045049 comment A sporadic cancer
VAR_045049 commonName VAR_045049
VAR_045050 comment A sporadic cancer
VAR_045050 commonName VAR_045050
VAR_045051 comment Sporadic cancers
VAR_045051 commonName VAR_045051
VAR_045052 comment Sporadic cancers
VAR_045052 commonName VAR_045052
VAR_045053 comment Sporadic cancers
VAR_045053 commonName VAR_045053
VAR_045054 comment Sporadic cancers
VAR_045054 commonName VAR_045054
VAR_045055 comment A sporadic cancer
VAR_045055 commonName VAR_045055
VAR_045056 comment A sporadic cancer
VAR_045056 commonName VAR_045056
VAR_045057 comment Sporadic cancers
VAR_045057 commonName VAR_045057
VAR_045058 comment Sporadic cancers
VAR_045058 commonName VAR_045058
VAR_045059 comment A sporadic cancer
VAR_045059 commonName VAR_045059
VAR_045060 comment Sporadic cancers
VAR_045060 commonName VAR_045060
VAR_045061 comment Sporadic cancers
VAR_045061 commonName VAR_045061
VAR_045062 comment A sporadic cancer
VAR_045062 commonName VAR_045062
VAR_045063 comment Sporadic cancers
VAR_045063 commonName VAR_045063
VAR_045064 comment Sporadic cancers
VAR_045064 commonName VAR_045064
VAR_045065 comment A sporadic cancer
VAR_045065 commonName VAR_045065
VAR_045066 comment Sporadic cancers
VAR_045066 commonName VAR_045066
VAR_045067 comment Sporadic cancers
VAR_045067 commonName VAR_045067
VAR_045068 comment Sporadic cancers
VAR_045068 commonName VAR_045068
VAR_045069 comment A sporadic cancer
VAR_045069 commonName VAR_045069
VAR_045070 comment A sporadic cancer
VAR_045070 commonName VAR_045070
VAR_045071 comment Sporadic cancers
VAR_045071 commonName VAR_045071
VAR_045072 comment A sporadic cancer
VAR_045072 commonName VAR_045072
VAR_045073 comment A familial cancer not matching LFS
VAR_045073 commonName VAR_045073
VAR_045074 comment Sporadic cancers
VAR_045074 commonName VAR_045074
VAR_045075 comment Sporadic cancers
VAR_045075 commonName VAR_045075
VAR_045076 comment Sporadic cancers
VAR_045076 commonName VAR_045076
VAR_045077 comment A sporadic cancer
VAR_045077 commonName VAR_045077
VAR_045078 comment Sporadic cancers
VAR_045078 commonName VAR_045078
VAR_045079 comment Sporadic cancers
VAR_045079 commonName VAR_045079
VAR_045080 comment Sporadic cancers
VAR_045080 commonName VAR_045080
VAR_045081 comment Sporadic cancers
VAR_045081 commonName VAR_045081
VAR_045082 comment A sporadic cancer
VAR_045082 commonName VAR_045082
VAR_045083 comment Sporadic cancers
VAR_045083 commonName VAR_045083
VAR_045084 comment Sporadic cancers
VAR_045084 commonName VAR_045084
VAR_045085 comment Sporadic cancers
VAR_045085 commonName VAR_045085
VAR_045086 comment Sporadic cancers
VAR_045086 commonName VAR_045086
VAR_045087 comment Sporadic cancers
VAR_045087 commonName VAR_045087
VAR_045088 comment A sporadic cancer
VAR_045088 commonName VAR_045088
VAR_045089 comment Sporadic cancers
VAR_045089 commonName VAR_045089
VAR_045090 comment Sporadic cancers
VAR_045090 commonName VAR_045090
VAR_045091 comment Sporadic cancers
VAR_045091 commonName VAR_045091
VAR_045092 comment Sporadic cancers
VAR_045092 commonName VAR_045092
VAR_045093 comment Sporadic cancers
VAR_045093 commonName VAR_045093
VAR_045094 comment Sporadic cancers
VAR_045094 commonName VAR_045094
VAR_045095 comment Sporadic cancers
VAR_045095 commonName VAR_045095
VAR_045096 comment Sporadic cancers
VAR_045096 commonName VAR_045096
VAR_045097 comment Sporadic cancers
VAR_045097 commonName VAR_045097
VAR_045098 comment Sporadic cancers
VAR_045098 commonName VAR_045098
VAR_045099 comment Sporadic cancers
VAR_045099 commonName VAR_045099
VAR_045100 comment Sporadic cancers
VAR_045100 commonName VAR_045100
VAR_045101 comment Sporadic cancers
VAR_045101 commonName VAR_045101
VAR_045102 comment Sporadic cancers
VAR_045102 commonName VAR_045102
VAR_045103 comment Sporadic cancers
VAR_045103 commonName VAR_045103
VAR_045104 comment A sporadic cancer
VAR_045104 commonName VAR_045104
VAR_045105 comment Sporadic cancers
VAR_045105 commonName VAR_045105
VAR_045106 comment Sporadic cancers
VAR_045106 commonName VAR_045106
VAR_045107 comment Sporadic cancers
VAR_045107 commonName VAR_045107
VAR_045108 comment Sporadic cancers
VAR_045108 commonName VAR_045108
VAR_045109 comment Sporadic cancers
VAR_045109 commonName VAR_045109
VAR_045110 comment Sporadic cancers
VAR_045110 commonName VAR_045110
VAR_045111 comment A sporadic cancer
VAR_045111 commonName VAR_045111
VAR_045112 comment Sporadic cancers
VAR_045112 commonName VAR_045112
VAR_045113 comment A sporadic cancer
VAR_045113 commonName VAR_045113
VAR_045114 comment A familial cancer not matching LFS
VAR_045114 commonName VAR_045114
VAR_045115 comment Sporadic cancers
VAR_045115 commonName VAR_045115
VAR_045116 comment Sporadic cancers
VAR_045116 commonName VAR_045116
VAR_045117 comment A sporadic cancer
VAR_045117 commonName VAR_045117
VAR_045118 comment Sporadic cancers
VAR_045118 commonName VAR_045118
VAR_045119 comment Sporadic cancers
VAR_045119 commonName VAR_045119
VAR_045120 comment Sporadic cancers
VAR_045120 commonName VAR_045120
VAR_045121 comment Sporadic cancers
VAR_045121 commonName VAR_045121
VAR_045122 comment Sporadic cancers
VAR_045122 commonName VAR_045122
VAR_045123 comment Sporadic cancers
VAR_045123 commonName VAR_045123
VAR_045124 comment A sporadic cancer
VAR_045124 commonName VAR_045124
VAR_045125 comment Sporadic cancers
VAR_045125 commonName VAR_045125
VAR_045126 comment Sporadic cancers
VAR_045126 commonName VAR_045126
VAR_045127 comment A sporadic cancer
VAR_045127 commonName VAR_045127
VAR_045128 comment Sporadic cancers
VAR_045128 commonName VAR_045128
VAR_045129 comment Sporadic cancers
VAR_045129 commonName VAR_045129
VAR_045130 comment Sporadic cancers
VAR_045130 commonName VAR_045130
VAR_045131 comment Sporadic cancers
VAR_045131 commonName VAR_045131
VAR_045132 comment A sporadic cancer
VAR_045132 commonName VAR_045132
VAR_045133 comment A sporadic cancer
VAR_045133 commonName VAR_045133
VAR_045134 comment A sporadic cancer
VAR_045134 commonName VAR_045134
VAR_045135 comment Sporadic cancers
VAR_045135 commonName VAR_045135
VAR_045136 comment Sporadic cancers
VAR_045136 commonName VAR_045136
VAR_045137 comment Sporadic cancers
VAR_045137 commonName VAR_045137
VAR_045138 comment A sporadic cancer
VAR_045138 commonName VAR_045138
VAR_045139 comment Sporadic cancers
VAR_045139 commonName VAR_045139
VAR_045140 comment A sporadic cancer
VAR_045140 commonName VAR_045140
VAR_045141 comment Sporadic cancers
VAR_045141 commonName VAR_045141
VAR_045142 comment A sporadic cancer
VAR_045142 commonName VAR_045142
VAR_045143 comment Sporadic cancers
VAR_045143 commonName VAR_045143
VAR_045144 comment A sporadic cancer
VAR_045144 commonName VAR_045144
VAR_045145 comment Sporadic cancers
VAR_045145 commonName VAR_045145
VAR_045146 comment Sporadic cancers
VAR_045146 commonName VAR_045146
VAR_045147 comment Sporadic cancers
VAR_045147 commonName VAR_045147
VAR_045148 comment Sporadic cancers
VAR_045148 commonName VAR_045148
VAR_045149 comment Sporadic cancers
VAR_045149 commonName VAR_045149
VAR_045150 comment A sporadic cancer
VAR_045150 commonName VAR_045150
VAR_045151 commonName VAR_045151
VAR_045151 disease phenotype-associated
VAR_045151 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045152 comment Sporadic cancers
VAR_045152 commonName VAR_045152
VAR_045153 comment Sporadic cancers
VAR_045153 commonName VAR_045153
VAR_045154 comment Sporadic cancers
VAR_045154 commonName VAR_045154
VAR_045155 comment Sporadic cancers
VAR_045155 commonName VAR_045155
VAR_045156 comment Sporadic cancers
VAR_045156 commonName VAR_045156
VAR_045157 comment Sporadic cancers
VAR_045157 commonName VAR_045157
VAR_045158 comment A sporadic cancer
VAR_045158 commonName VAR_045158
VAR_045159 comment Sporadic cancers
VAR_045159 commonName VAR_045159
VAR_045160 comment Sporadic cancers
VAR_045160 commonName VAR_045160
VAR_045161 comment Sporadic cancers
VAR_045161 commonName VAR_045161
VAR_045162 comment Sporadic cancers
VAR_045162 commonName VAR_045162
VAR_045163 comment Sporadic cancers
VAR_045163 commonName VAR_045163
VAR_045164 comment Sporadic cancers
VAR_045164 commonName VAR_045164
VAR_045165 comment Sporadic cancers
VAR_045165 commonName VAR_045165
VAR_045166 comment Sporadic cancers
VAR_045166 commonName VAR_045166
VAR_045167 comment Sporadic cancers
VAR_045167 commonName VAR_045167
VAR_045168 comment Sporadic cancers
VAR_045168 commonName VAR_045168
VAR_045169 comment Sporadic cancers
VAR_045169 commonName VAR_045169
VAR_045170 comment Sporadic cancers
VAR_045170 commonName VAR_045170
VAR_045171 comment Sporadic cancers
VAR_045171 commonName VAR_045171
VAR_045172 comment Sporadic cancers
VAR_045172 commonName VAR_045172
VAR_045173 comment Sporadic cancers
VAR_045173 commonName VAR_045173
VAR_045174 comment Sporadic cancers
VAR_045174 commonName VAR_045174
VAR_045175 commonName VAR_045175
VAR_045175 disease phenotype-associated
VAR_045175 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045176 comment Sporadic cancers
VAR_045176 commonName VAR_045176
VAR_045177 comment A sporadic cancer
VAR_045177 commonName VAR_045177
VAR_045178 comment Sporadic cancers
VAR_045178 commonName VAR_045178
VAR_045179 comment Sporadic cancers
VAR_045179 commonName VAR_045179
VAR_045180 comment Sporadic cancers
VAR_045180 commonName VAR_045180
VAR_045181 comment A sporadic cancer
VAR_045181 commonName VAR_045181
VAR_045182 comment Sporadic cancers
VAR_045182 commonName VAR_045182
VAR_045183 comment Sporadic cancers
VAR_045183 commonName VAR_045183
VAR_045184 comment A sporadic cancer
VAR_045184 commonName VAR_045184
VAR_045185 comment Sporadic cancers
VAR_045185 commonName VAR_045185
VAR_045186 commonName VAR_045186
VAR_045186 disease phenotype-associated
VAR_045186 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045187 comment Sporadic cancers
VAR_045187 commonName VAR_045187
VAR_045188 comment Sporadic cancers
VAR_045188 commonName VAR_045188
VAR_045189 commonName VAR_045189
VAR_045189 disease phenotype-associated
VAR_045189 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045190 comment Sporadic cancers
VAR_045190 commonName VAR_045190
VAR_045191 comment A sporadic cancer
VAR_045191 commonName VAR_045191
VAR_045192 comment Sporadic cancers
VAR_045192 commonName VAR_045192
VAR_045193 comment Sporadic cancers
VAR_045193 commonName VAR_045193
VAR_045194 comment Sporadic cancers
VAR_045194 commonName VAR_045194
VAR_045195 comment Sporadic cancers
VAR_045195 commonName VAR_045195
VAR_045196 comment Sporadic cancers
VAR_045196 commonName VAR_045196
VAR_045197 comment Sporadic cancers
VAR_045197 commonName VAR_045197
VAR_045198 comment Sporadic cancers
VAR_045198 commonName VAR_045198
VAR_045199 comment Sporadic cancers
VAR_045199 commonName VAR_045199
VAR_045200 commonName VAR_045200
VAR_045200 disease phenotype-associated
VAR_045200 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045201 comment Sporadic cancers
VAR_045201 commonName VAR_045201
VAR_045202 commonName VAR_045202
VAR_045202 disease phenotype-associated
VAR_045202 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045203 comment Sporadic cancers
VAR_045203 commonName VAR_045203
VAR_045204 comment Sporadic cancers
VAR_045204 commonName VAR_045204
VAR_045205 comment A sporadic cancer
VAR_045205 commonName VAR_045205
VAR_045206 comment A sporadic cancer
VAR_045206 commonName VAR_045206
VAR_045207 comment Sporadic cancers
VAR_045207 commonName VAR_045207
VAR_045208 comment Sporadic cancers
VAR_045208 commonName VAR_045208
VAR_045209 comment Sporadic cancers
VAR_045209 commonName VAR_045209
VAR_045210 comment Sporadic cancers
VAR_045210 commonName VAR_045210
VAR_045211 comment Sporadic cancers
VAR_045211 commonName VAR_045211
VAR_045212 comment Sporadic cancers
VAR_045212 commonName VAR_045212
VAR_045213 comment Sporadic cancers
VAR_045213 commonName VAR_045213
VAR_045214 comment A sporadic cancer
VAR_045214 commonName VAR_045214
VAR_045215 comment Sporadic cancers
VAR_045215 commonName VAR_045215
VAR_045216 comment Sporadic cancers
VAR_045216 commonName VAR_045216
VAR_045217 comment Sporadic cancers
VAR_045217 commonName VAR_045217
VAR_045218 comment Sporadic cancers
VAR_045218 commonName VAR_045218
VAR_045219 comment Sporadic cancers
VAR_045219 commonName VAR_045219
VAR_045220 comment Sporadic cancers
VAR_045220 commonName VAR_045220
VAR_045221 comment Sporadic cancers
VAR_045221 commonName VAR_045221
VAR_045222 comment Sporadic cancers
VAR_045222 commonName VAR_045222
VAR_045223 comment Sporadic cancers
VAR_045223 commonName VAR_045223
VAR_045224 comment A familial cancer not matching LFS
VAR_045224 commonName VAR_045224
VAR_045225 comment Sporadic cancers
VAR_045225 commonName VAR_045225
VAR_045226 comment Sporadic cancers
VAR_045226 commonName VAR_045226
VAR_045227 comment Sporadic cancers
VAR_045227 commonName VAR_045227
VAR_045228 comment Sporadic cancers
VAR_045228 commonName VAR_045228
VAR_045229 comment Sporadic cancers
VAR_045229 commonName VAR_045229
VAR_045230 comment Sporadic cancers
VAR_045230 commonName VAR_045230
VAR_045231 comment Sporadic cancers
VAR_045231 commonName VAR_045231
VAR_045232 commonName VAR_045232
VAR_045232 disease phenotype-associated
VAR_045232 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045233 comment A sporadic cancer
VAR_045233 commonName VAR_045233
VAR_045234 comment Sporadic cancers
VAR_045234 commonName VAR_045234
VAR_045235 comment Sporadic cancers
VAR_045235 commonName VAR_045235
VAR_045236 commonName VAR_045236
VAR_045236 disease phenotype-associated
VAR_045236 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045237 comment A sporadic cancer
VAR_045237 commonName VAR_045237
VAR_045238 comment Sporadic cancers
VAR_045238 commonName VAR_045238
VAR_045239 comment Sporadic cancers
VAR_045239 commonName VAR_045239
VAR_045240 comment Sporadic cancers
VAR_045240 commonName VAR_045240
VAR_045241 comment Sporadic cancers
VAR_045241 commonName VAR_045241
VAR_045242 comment Sporadic cancers
VAR_045242 commonName VAR_045242
VAR_045243 comment Sporadic cancers
VAR_045243 commonName VAR_045243
VAR_045244 comment Sporadic cancers
VAR_045244 commonName VAR_045244
VAR_045245 comment A sporadic cancer
VAR_045245 commonName VAR_045245
VAR_045246 comment Sporadic cancers
VAR_045246 commonName VAR_045246
VAR_045247 comment A sporadic cancer
VAR_045247 commonName VAR_045247
VAR_045248 comment Sporadic cancers
VAR_045248 commonName VAR_045248
VAR_045249 comment Sporadic cancers
VAR_045249 commonName VAR_045249
VAR_045250 comment Sporadic cancers
VAR_045250 commonName VAR_045250
VAR_045251 comment Sporadic cancers
VAR_045251 commonName VAR_045251
VAR_045252 comment Sporadic cancers
VAR_045252 commonName VAR_045252
VAR_045253 comment Sporadic cancers
VAR_045253 commonName VAR_045253
VAR_045254 comment Sporadic cancers
VAR_045254 commonName VAR_045254
VAR_045255 comment Sporadic cancers
VAR_045255 commonName VAR_045255
VAR_045256 comment Sporadic cancers
VAR_045256 commonName VAR_045256
VAR_045257 comment Sporadic cancers
VAR_045257 commonName VAR_045257
VAR_045258 commonName VAR_045258
VAR_045258 disease phenotype-associated
VAR_045258 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045259 comment Sporadic cancers
VAR_045259 commonName VAR_045259
VAR_045260 comment Sporadic cancers
VAR_045260 commonName VAR_045260
VAR_045261 comment Sporadic cancers
VAR_045261 commonName VAR_045261
VAR_045262 comment A sporadic cancer
VAR_045262 commonName VAR_045262
VAR_045263 comment Sporadic cancers
VAR_045263 commonName VAR_045263
VAR_045264 comment A sporadic cancer
VAR_045264 commonName VAR_045264
VAR_045265 comment Sporadic cancers
VAR_045265 commonName VAR_045265
VAR_045266 comment Sporadic cancers
VAR_045266 commonName VAR_045266
VAR_045267 comment Sporadic cancers
VAR_045267 commonName VAR_045267
VAR_045268 comment Sporadic cancers
VAR_045268 commonName VAR_045268
VAR_045269 comment A sporadic cancer
VAR_045269 commonName VAR_045269
VAR_045270 comment A sporadic cancer
VAR_045270 commonName VAR_045270
VAR_045271 comment A sporadic cancer
VAR_045271 commonName VAR_045271
VAR_045272 comment Sporadic cancers
VAR_045272 commonName VAR_045272
VAR_045273 comment Sporadic cancers
VAR_045273 commonName VAR_045273
VAR_045274 comment Sporadic cancers
VAR_045274 commonName VAR_045274
VAR_045275 comment Sporadic cancers
VAR_045275 commonName VAR_045275
VAR_045276 comment Sporadic cancers
VAR_045276 commonName VAR_045276
VAR_045277 comment Sporadic cancers
VAR_045277 commonName VAR_045277
VAR_045278 comment Sporadic cancers
VAR_045278 commonName VAR_045278
VAR_045279 comment Sporadic cancers
VAR_045279 commonName VAR_045279
VAR_045280 comment A brain tumor with no family history
VAR_045280 commonName VAR_045280
VAR_045281 comment Sporadic cancers
VAR_045281 commonName VAR_045281
VAR_045282 comment Sporadic cancers
VAR_045282 commonName VAR_045282
VAR_045283 comment Sporadic cancers
VAR_045283 commonName VAR_045283
VAR_045284 commonName VAR_045284
VAR_045284 disease phenotype-associated
VAR_045284 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045285 comment Sporadic cancers
VAR_045285 commonName VAR_045285
VAR_045286 comment Sporadic cancers
VAR_045286 commonName VAR_045286
VAR_045287 comment Sporadic cancers
VAR_045287 commonName VAR_045287
VAR_045288 comment Sporadic cancers
VAR_045288 commonName VAR_045288
VAR_045289 comment Sporadic cancers
VAR_045289 commonName VAR_045289
VAR_045290 comment Sporadic cancers
VAR_045290 commonName VAR_045290
VAR_045291 comment Sporadic cancers
VAR_045291 commonName VAR_045291
VAR_045292 comment Sporadic cancers
VAR_045292 commonName VAR_045292
VAR_045293 comment Sporadic cancers
VAR_045293 commonName VAR_045293
VAR_045294 comment Sporadic cancers
VAR_045294 commonName VAR_045294
VAR_045295 comment Sporadic cancers
VAR_045295 commonName VAR_045295
VAR_045296 comment Sporadic cancers
VAR_045296 commonName VAR_045296
VAR_045297 comment Sporadic cancers
VAR_045297 commonName VAR_045297
VAR_045298 comment Sporadic cancers
VAR_045298 commonName VAR_045298
VAR_045299 comment Sporadic cancers
VAR_045299 commonName VAR_045299
VAR_045300 comment A sporadic cancer
VAR_045300 commonName VAR_045300
VAR_045301 comment Sporadic cancers
VAR_045301 commonName VAR_045301
VAR_045302 comment A sporadic cancer
VAR_045302 commonName VAR_045302
VAR_045303 comment Sporadic cancers
VAR_045303 commonName VAR_045303
VAR_045304 comment Sporadic cancers
VAR_045304 commonName VAR_045304
VAR_045305 comment A sporadic cancer
VAR_045305 commonName VAR_045305
VAR_045306 comment Sporadic cancers
VAR_045306 commonName VAR_045306
VAR_045307 comment A sporadic cancer
VAR_045307 commonName VAR_045307
VAR_045308 comment Sporadic cancers
VAR_045308 commonName VAR_045308
VAR_045309 comment Sporadic cancers
VAR_045309 commonName VAR_045309
VAR_045310 comment Sporadic cancers
VAR_045310 commonName VAR_045310
VAR_045311 comment Sporadic cancers
VAR_045311 commonName VAR_045311
VAR_045312 comment Sporadic cancers
VAR_045312 commonName VAR_045312
VAR_045313 comment A sporadic cancer
VAR_045313 commonName VAR_045313
VAR_045314 comment A sporadic cancer
VAR_045314 commonName VAR_045314
VAR_045315 comment Sporadic cancers
VAR_045315 commonName VAR_045315
VAR_045316 comment A sporadic cancer
VAR_045316 commonName VAR_045316
VAR_045317 comment A sporadic cancer
VAR_045317 commonName VAR_045317
VAR_045318 comment Sporadic cancers
VAR_045318 commonName VAR_045318
VAR_045319 comment A sporadic cancer
VAR_045319 commonName VAR_045319
VAR_045320 comment Sporadic cancers
VAR_045320 commonName VAR_045320
VAR_045321 commonName VAR_045321
VAR_045321 disease phenotype-associated
VAR_045321 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045322 comment Sporadic cancers
VAR_045322 commonName VAR_045322
VAR_045323 comment Sporadic cancers
VAR_045323 commonName VAR_045323
VAR_045324 comment Sporadic cancers
VAR_045324 commonName VAR_045324
VAR_045325 comment Sporadic cancers
VAR_045325 commonName VAR_045325
VAR_045326 comment Sporadic cancers
VAR_045326 commonName VAR_045326
VAR_045327 comment Sporadic cancers
VAR_045327 commonName VAR_045327
VAR_045328 comment A sporadic cancer
VAR_045328 commonName VAR_045328
VAR_045329 comment Sporadic cancers
VAR_045329 commonName VAR_045329
VAR_045330 commonName VAR_045330
VAR_045330 disease phenotype-associated
VAR_045330 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045331 comment Sporadic cancers
VAR_045331 commonName VAR_045331
VAR_045332 comment Sporadic cancers
VAR_045332 commonName VAR_045332
VAR_045333 comment A sporadic cancer
VAR_045333 commonName VAR_045333
VAR_045334 comment Sporadic cancers
VAR_045334 commonName VAR_045334
VAR_045335 comment A sporadic cancer
VAR_045335 commonName VAR_045335
VAR_045336 comment Sporadic cancers
VAR_045336 commonName VAR_045336
VAR_045337 comment Sporadic cancers
VAR_045337 commonName VAR_045337
VAR_045338 comment Sporadic cancers
VAR_045338 commonName VAR_045338
VAR_045339 comment Sporadic cancers
VAR_045339 commonName VAR_045339
VAR_045340 comment A sporadic cancer
VAR_045340 commonName VAR_045340
VAR_045341 comment Sporadic cancers
VAR_045341 commonName VAR_045341
VAR_045342 comment Sporadic cancers
VAR_045342 commonName VAR_045342
VAR_045343 comment Sporadic cancers
VAR_045343 commonName VAR_045343
VAR_045344 comment Sporadic cancers
VAR_045344 commonName VAR_045344
VAR_045345 comment Sporadic cancers
VAR_045345 commonName VAR_045345
VAR_045346 comment Sporadic cancers
VAR_045346 commonName VAR_045346
VAR_045347 comment Sporadic cancers
VAR_045347 commonName VAR_045347
VAR_045348 comment Sporadic cancers
VAR_045348 commonName VAR_045348
VAR_045349 comment Sporadic cancers
VAR_045349 commonName VAR_045349
VAR_045350 comment Sporadic cancers
VAR_045350 commonName VAR_045350
VAR_045351 comment A familial cancer not matching LFS
VAR_045351 commonName VAR_045351
VAR_045352 comment Sporadic cancers
VAR_045352 commonName VAR_045352
VAR_045353 comment Sporadic cancers
VAR_045353 commonName VAR_045353
VAR_045354 comment Sporadic cancers
VAR_045354 commonName VAR_045354
VAR_045355 comment Sporadic cancers
VAR_045355 commonName VAR_045355
VAR_045356 comment Sporadic cancers
VAR_045356 commonName VAR_045356
VAR_045357 comment A familial cancer not matching LFS
VAR_045357 commonName VAR_045357
VAR_045358 comment Sporadic cancers
VAR_045358 commonName VAR_045358
VAR_045359 comment Sporadic cancers
VAR_045359 commonName VAR_045359
VAR_045360 comment Sporadic cancers
VAR_045360 commonName VAR_045360
VAR_045361 comment Sporadic cancers
VAR_045361 commonName VAR_045361
VAR_045362 comment Sporadic cancers
VAR_045362 commonName VAR_045362
VAR_045363 comment Sporadic cancers
VAR_045363 commonName VAR_045363
VAR_045364 comment Sporadic cancers
VAR_045364 commonName VAR_045364
VAR_045365 comment Sporadic cancers
VAR_045365 commonName VAR_045365
VAR_045366 comment Sporadic cancers
VAR_045366 commonName VAR_045366
VAR_045367 comment Sporadic cancers
VAR_045367 commonName VAR_045367
VAR_045368 comment Sporadic cancers
VAR_045368 commonName VAR_045368
VAR_045369 comment Sporadic cancers
VAR_045369 commonName VAR_045369
VAR_045370 comment Sporadic cancers
VAR_045370 commonName VAR_045370
VAR_045371 comment Sporadic cancers
VAR_045371 commonName VAR_045371
VAR_045372 comment Sporadic cancers
VAR_045372 commonName VAR_045372
VAR_045373 comment Sporadic cancers
VAR_045373 commonName VAR_045373
VAR_045374 comment Sporadic cancers
VAR_045374 commonName VAR_045374
VAR_045375 comment An osteosarcoma with no family history
VAR_045375 commonName VAR_045375
VAR_045376 comment Sporadic cancers
VAR_045376 commonName VAR_045376
VAR_045377 comment Sporadic cancers
VAR_045377 commonName VAR_045377
VAR_045378 comment Sporadic cancers
VAR_045378 commonName VAR_045378
VAR_045379 comment Sporadic cancers
VAR_045379 commonName VAR_045379
VAR_045380 comment Sporadic cancers
VAR_045380 commonName VAR_045380
VAR_045381 comment A sporadic cancer
VAR_045381 commonName VAR_045381
VAR_045382 comment Sporadic cancers
VAR_045382 commonName VAR_045382
VAR_045383 comment Sporadic cancers
VAR_045383 commonName VAR_045383
VAR_045384 commonName VAR_045384
VAR_045384 disease phenotype-associated
VAR_045384 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045385 comment A sporadic cancer
VAR_045385 commonName VAR_045385
VAR_045386 comment Sporadic cancers
VAR_045386 commonName VAR_045386
VAR_045387 comment A familial cancer not matching LFS
VAR_045387 commonName VAR_045387
VAR_045388 comment Sporadic cancers
VAR_045388 commonName VAR_045388
VAR_045389 comment A sporadic cancer
VAR_045389 commonName VAR_045389
VAR_045390 comment Sporadic cancers
VAR_045390 commonName VAR_045390
VAR_045391 comment Sporadic cancers
VAR_045391 commonName VAR_045391
VAR_045392 comment A sporadic cancer
VAR_045392 commonName VAR_045392
VAR_045393 comment Sporadic cancers
VAR_045393 commonName VAR_045393
VAR_045394 comment Sporadic cancers
VAR_045394 commonName VAR_045394
VAR_045395 comment Sporadic cancers
VAR_045395 commonName VAR_045395
VAR_045396 comment Sporadic cancers
VAR_045396 commonName VAR_045396
VAR_045397 comment Sporadic cancers
VAR_045397 commonName VAR_045397
VAR_045398 comment Sporadic cancers
VAR_045398 commonName VAR_045398
VAR_045399 comment Sporadic cancers
VAR_045399 commonName VAR_045399
VAR_045400 comment A sporadic cancer
VAR_045400 commonName VAR_045400
VAR_045401 comment Sporadic cancers
VAR_045401 commonName VAR_045401
VAR_045402 comment Sporadic cancers
VAR_045402 commonName VAR_045402
VAR_045403 comment Sporadic cancers
VAR_045403 commonName VAR_045403
VAR_045404 comment Sporadic cancers
VAR_045404 commonName VAR_045404
VAR_045405 comment Sporadic cancers
VAR_045405 commonName VAR_045405
VAR_045406 comment Sporadic cancers
VAR_045406 commonName VAR_045406
VAR_045407 comment Sporadic cancers
VAR_045407 commonName VAR_045407
VAR_045408 comment A sporadic cancer
VAR_045408 commonName VAR_045408
VAR_045409 comment Sporadic cancers
VAR_045409 commonName VAR_045409
VAR_045410 comment Sporadic cancers
VAR_045410 commonName VAR_045410
VAR_045411 commonName VAR_045411
VAR_045411 disease phenotype-associated
VAR_045411 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045412 commonName VAR_045412
VAR_045412 disease phenotype-associated
VAR_045412 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045413 comment Sporadic cancers
VAR_045413 commonName VAR_045413
VAR_045414 comment Sporadic cancers
VAR_045414 commonName VAR_045414
VAR_045415 comment Sporadic cancers
VAR_045415 commonName VAR_045415
VAR_045416 comment Sporadic cancers
VAR_045416 commonName VAR_045416
VAR_045417 comment Sporadic cancers
VAR_045417 commonName VAR_045417
VAR_045418 comment Sporadic cancers
VAR_045418 commonName VAR_045418
VAR_045419 comment Sporadic cancers
VAR_045419 commonName VAR_045419
VAR_045420 comment A sporadic cancer
VAR_045420 commonName VAR_045420
VAR_045421 comment Sporadic cancers
VAR_045421 commonName VAR_045421
VAR_045422 comment Sporadic cancers
VAR_045422 commonName VAR_045422
VAR_045423 comment A sporadic cancer
VAR_045423 commonName VAR_045423
VAR_045424 comment Sporadic cancers
VAR_045424 commonName VAR_045424
VAR_045425 comment Sporadic cancers
VAR_045425 commonName VAR_045425
VAR_045426 comment A brain tumor with no family history
VAR_045426 commonName VAR_045426
VAR_045427 comment A sporadic cancer
VAR_045427 commonName VAR_045427
VAR_045428 comment Sporadic cancers
VAR_045428 commonName VAR_045428
VAR_045429 comment Sporadic cancers
VAR_045429 commonName VAR_045429
VAR_045430 comment Sporadic cancers
VAR_045430 commonName VAR_045430
VAR_045431 comment Sporadic cancers
VAR_045431 commonName VAR_045431
VAR_045432 comment A sporadic cancer
VAR_045432 commonName VAR_045432
VAR_045433 comment Sporadic cancers
VAR_045433 commonName VAR_045433
VAR_045434 comment A sporadic cancer
VAR_045434 commonName VAR_045434
VAR_045435 comment Sporadic cancers
VAR_045435 commonName VAR_045435
VAR_045436 comment Sporadic cancers
VAR_045436 commonName VAR_045436
VAR_045437 comment Sporadic cancers
VAR_045437 commonName VAR_045437
VAR_045438 comment Sporadic cancers
VAR_045438 commonName VAR_045438
VAR_045439 comment A sporadic cancer
VAR_045439 commonName VAR_045439
VAR_045440 comment Sporadic cancers
VAR_045440 commonName VAR_045440
VAR_045441 comment A sporadic cancer
VAR_045441 commonName VAR_045441
VAR_045442 comment A sporadic cancer
VAR_045442 commonName VAR_045442
VAR_045443 comment Sporadic cancers
VAR_045443 commonName VAR_045443
VAR_045444 comment Sporadic cancers
VAR_045444 commonName VAR_045444
VAR_045445 comment Sporadic cancers
VAR_045445 commonName VAR_045445
VAR_045446 comment A sporadic cancer
VAR_045446 commonName VAR_045446
VAR_045447 comment Sporadic cancers
VAR_045447 commonName VAR_045447
VAR_045448 comment Sporadic cancers
VAR_045448 commonName VAR_045448
VAR_045449 comment Sporadic cancers
VAR_045449 commonName VAR_045449
VAR_045450 comment Sporadic cancers
VAR_045450 commonName VAR_045450
VAR_045451 comment Sporadic cancers
VAR_045451 commonName VAR_045451
VAR_045452 comment Sporadic cancers
VAR_045452 commonName VAR_045452
VAR_045453 comment A sporadic cancer
VAR_045453 commonName VAR_045453
VAR_045454 comment A sporadic cancer
VAR_045454 commonName VAR_045454
VAR_045455 comment Sporadic cancers
VAR_045455 commonName VAR_045455
VAR_045456 comment Sporadic cancers
VAR_045456 commonName VAR_045456
VAR_045457 comment Sporadic cancers
VAR_045457 commonName VAR_045457
VAR_045458 comment Sporadic cancers
VAR_045458 commonName VAR_045458
VAR_045459 comment Sporadic cancers
VAR_045459 commonName VAR_045459
VAR_045460 comment Sporadic cancers
VAR_045460 commonName VAR_045460
VAR_045461 comment A sporadic cancer
VAR_045461 commonName VAR_045461
VAR_045462 comment A sporadic cancer
VAR_045462 commonName VAR_045462
VAR_045463 comment Sporadic cancers
VAR_045463 commonName VAR_045463
VAR_045464 comment Sporadic cancers
VAR_045464 commonName VAR_045464
VAR_045465 comment Sporadic cancers
VAR_045465 commonName VAR_045465
VAR_045466 comment Sporadic cancers
VAR_045466 commonName VAR_045466
VAR_045467 comment Sporadic cancers
VAR_045467 commonName VAR_045467
VAR_045468 comment Sporadic cancers
VAR_045468 commonName VAR_045468
VAR_045469 comment A sporadic cancer
VAR_045469 commonName VAR_045469
VAR_045470 comment A sporadic cancer
VAR_045470 commonName VAR_045470
VAR_045471 comment A familial cancer not matching LFS
VAR_045471 commonName VAR_045471
VAR_045472 comment Sporadic cancers
VAR_045472 commonName VAR_045472
VAR_045473 comment Sporadic cancers
VAR_045473 commonName VAR_045473
VAR_045474 comment A sporadic cancer
VAR_045474 commonName VAR_045474
VAR_045475 commonName VAR_045475
VAR_045475 disease phenotype-associated
VAR_045475 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045476 comment A sporadic cancer
VAR_045476 commonName VAR_045476
VAR_045477 comment Sporadic cancers
VAR_045477 commonName VAR_045477
VAR_045478 comment Sporadic cancers
VAR_045478 commonName VAR_045478
VAR_045479 comment A sporadic cancer
VAR_045479 commonName VAR_045479
VAR_045480 comment A sporadic cancer
VAR_045480 commonName VAR_045480
VAR_045481 comment A sporadic cancer
VAR_045481 commonName VAR_045481
VAR_045482 comment Sporadic cancers
VAR_045482 commonName VAR_045482
VAR_045483 comment Sporadic cancers
VAR_045483 commonName VAR_045483
VAR_045484 comment A sporadic cancer
VAR_045484 commonName VAR_045484
VAR_045485 comment A sporadic cancer
VAR_045485 commonName VAR_045485
VAR_045486 comment Sporadic cancers
VAR_045486 commonName VAR_045486
VAR_045487 comment Sporadic cancers
VAR_045487 commonName VAR_045487
VAR_045488 comment Sporadic cancers
VAR_045488 commonName VAR_045488
VAR_045489 comment A sporadic cancer
VAR_045489 commonName VAR_045489
VAR_045490 comment A sporadic cancer
VAR_045490 commonName VAR_045490
VAR_045491 comment A sporadic cancer
VAR_045491 commonName VAR_045491
VAR_045492 comment A sporadic cancer
VAR_045492 commonName VAR_045492
VAR_045493 comment A sporadic cancer
VAR_045493 commonName VAR_045493
VAR_045494 comment A sporadic cancer
VAR_045494 commonName VAR_045494
VAR_045495 comment A sporadic cancer
VAR_045495 commonName VAR_045495
VAR_045496 comment A sporadic cancer
VAR_045496 commonName VAR_045496
VAR_045497 comment A sporadic cancer
VAR_045497 commonName VAR_045497
VAR_045498 comment A sporadic cancer
VAR_045498 commonName VAR_045498
VAR_045499 comment A kidney cancer with no family history
VAR_045499 commonName VAR_045499
VAR_045500 comment Sporadic cancers
VAR_045500 commonName VAR_045500
VAR_045501 comment A sporadic cancer
VAR_045501 commonName VAR_045501
VAR_045502 comment Sporadic cancers
VAR_045502 commonName VAR_045502
VAR_045503 comment Sporadic cancers
VAR_045503 commonName VAR_045503
VAR_045504 comment Sporadic cancers
VAR_045504 commonName VAR_045504
VAR_045505 comment A sporadic cancer
VAR_045505 commonName VAR_045505
VAR_045506 comment A sporadic cancer
VAR_045506 commonName VAR_045506
VAR_045507 comment Sporadic cancers
VAR_045507 commonName VAR_045507
VAR_045508 comment Kidney cancer
VAR_045508 commonName VAR_045508
VAR_045509 comment A sporadic cancer
VAR_045509 commonName VAR_045509
VAR_045510 comment Sporadic cancers
VAR_045510 commonName VAR_045510
VAR_045511 comment Sporadic cancers
VAR_045511 commonName VAR_045511
VAR_045512 comment A sporadic cancer
VAR_045512 commonName VAR_045512
VAR_045513 comment A sporadic cancer
VAR_045513 commonName VAR_045513
VAR_045514 comment A sporadic cancer
VAR_045514 commonName VAR_045514
VAR_045515 comment Sporadic cancers
VAR_045515 commonName VAR_045515
VAR_045516 comment A sporadic cancer
VAR_045516 commonName VAR_045516
VAR_045517 comment A sporadic cancer
VAR_045517 commonName VAR_045517
VAR_045518 comment Sporadic cancers
VAR_045518 commonName VAR_045518
VAR_045519 comment A sporadic cancer
VAR_045519 commonName VAR_045519
VAR_045520 comment A sporadic cancer
VAR_045520 commonName VAR_045520
VAR_045521 comment A sporadic cancer
VAR_045521 commonName VAR_045521
VAR_045522 comment A sporadic cancer
VAR_045522 commonName VAR_045522
VAR_045523 comment Sporadic cancers
VAR_045523 commonName VAR_045523
VAR_045524 comment A sporadic cancer
VAR_045524 commonName VAR_045524
VAR_045525 comment A sporadic cancer
VAR_045525 commonName VAR_045525
VAR_045526 comment A sporadic cancer
VAR_045526 commonName VAR_045526
VAR_045527 comment Sporadic cancers
VAR_045527 commonName VAR_045527
VAR_045528 comment Sporadic cancers
VAR_045528 commonName VAR_045528
VAR_045529 comment Sporadic cancers
VAR_045529 commonName VAR_045529
VAR_045530 comment Sporadic cancers
VAR_045530 commonName VAR_045530
VAR_045531 comment Sporadic cancers
VAR_045531 commonName VAR_045531
VAR_045532 comment A sporadic cancer
VAR_045532 commonName VAR_045532
VAR_045533 comment A sporadic cancer
VAR_045533 commonName VAR_045533
VAR_045534 comment A sporadic cancer
VAR_045534 commonName VAR_045534
VAR_045535 comment A sporadic cancer
VAR_045535 commonName VAR_045535
VAR_045536 comment A sporadic cancer
VAR_045536 commonName VAR_045536
VAR_045537 comment Sporadic cancers
VAR_045537 commonName VAR_045537
VAR_045538 comment Sporadic cancers
VAR_045538 commonName VAR_045538
VAR_045539 comment A sporadic cancer
VAR_045539 commonName VAR_045539
VAR_045540 comment A sporadic cancer
VAR_045540 commonName VAR_045540
VAR_045541 comment A sporadic cancer
VAR_045541 commonName VAR_045541
VAR_045542 comment Sporadic cancers
VAR_045542 commonName VAR_045542
VAR_045543 comment A sporadic cancer
VAR_045543 commonName VAR_045543
VAR_045544 comment Sporadic cancers
VAR_045544 commonName VAR_045544
VAR_045545 comment Sporadic cancers
VAR_045545 commonName VAR_045545
VAR_045546 commonName VAR_045546
VAR_045546 disease phenotype-associated
VAR_045546 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_045547 comment A sporadic cancer
VAR_045547 commonName VAR_045547
VAR_045576 commonName VAR_045576
VAR_045576 disease not phenotype-associated
VAR_045581 comment A colorectal adenocarcinoma sample
VAR_045581 commonName VAR_045581
VAR_045582 commonName VAR_045582
VAR_045582 disease not phenotype-associated
VAR_045591 comment An ovarian undifferentiated carcinoma sample
VAR_045591 commonName VAR_045591
VAR_045596 commonName VAR_045596
VAR_045596 disease not phenotype-associated
VAR_045597 comment A lung neuroendocrine carcinoma sample
VAR_045597 commonName VAR_045597
VAR_045598 commonName VAR_045598
VAR_045598 disease not phenotype-associated
VAR_045599 commonName VAR_045599
VAR_045599 disease not phenotype-associated
VAR_045600 commonName VAR_045600
VAR_045600 disease not phenotype-associated
VAR_045601 commonName VAR_045601
VAR_045601 disease not phenotype-associated
VAR_045606 commonName VAR_045606
VAR_045606 disease not phenotype-associated
VAR_045607 commonName VAR_045607
VAR_045607 disease not phenotype-associated
VAR_045608 commonName VAR_045608
VAR_045608 disease not phenotype-associated
VAR_045609 commonName VAR_045609
VAR_045609 disease not phenotype-associated
VAR_045610 commonName VAR_045610
VAR_045610 disease not phenotype-associated
VAR_045612 commonName VAR_045612
VAR_045612 disease not phenotype-associated
VAR_045620 commonName VAR_045620
VAR_045620 disease not phenotype-associated
VAR_045624 commonName VAR_045624
VAR_045624 disease not phenotype-associated
VAR_045625 commonName VAR_045625
VAR_045625 disease not phenotype-associated
VAR_045626 commonName VAR_045626
VAR_045626 disease not phenotype-associated
VAR_045627 commonName VAR_045627
VAR_045627 disease not phenotype-associated
VAR_045628 commonName VAR_045628
VAR_045628 disease not phenotype-associated
VAR_045632 commonName VAR_045632
VAR_045632 disease not phenotype-associated
VAR_045648 commonName VAR_045648
VAR_045648 disease not phenotype-associated
VAR_045649 commonName VAR_045649
VAR_045649 disease not phenotype-associated
VAR_045650 commonName VAR_045650
VAR_045650 disease not phenotype-associated
VAR_045651 commonName VAR_045651
VAR_045651 disease not phenotype-associated
VAR_045652 commonName VAR_045652
VAR_045652 disease not phenotype-associated
VAR_045653 commonName VAR_045653
VAR_045653 disease not phenotype-associated
VAR_045654 commonName VAR_045654
VAR_045654 disease not phenotype-associated
VAR_045655 commonName VAR_045655
VAR_045655 disease phenotype-associated
VAR_045655 phenoCommon Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]
VAR_045656 commonName VAR_045656
VAR_045656 disease not phenotype-associated
VAR_045657 commonName VAR_045657
VAR_045657 disease phenotype-associated
VAR_045657 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045658 commonName VAR_045658
VAR_045658 disease phenotype-associated
VAR_045658 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045659 commonName VAR_045659
VAR_045659 disease phenotype-associated
VAR_045659 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045660 commonName VAR_045660
VAR_045660 disease phenotype-associated
VAR_045660 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045661 commonName VAR_045661
VAR_045661 disease phenotype-associated
VAR_045661 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045662 commonName VAR_045662
VAR_045662 disease phenotype-associated
VAR_045662 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045663 commonName VAR_045663
VAR_045663 disease phenotype-associated
VAR_045663 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045664 commonName VAR_045664
VAR_045664 disease phenotype-associated
VAR_045664 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045665 commonName VAR_045665
VAR_045665 disease phenotype-associated
VAR_045665 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045666 commonName VAR_045666
VAR_045666 disease phenotype-associated
VAR_045666 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045667 commonName VAR_045667
VAR_045667 disease phenotype-associated
VAR_045667 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045668 commonName VAR_045668
VAR_045668 disease phenotype-associated
VAR_045668 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045669 commonName VAR_045669
VAR_045669 disease phenotype-associated
VAR_045669 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_045670 commonName VAR_045670
VAR_045671 commonName VAR_045671
VAR_045672 commonName VAR_045672
VAR_045678 comment A colorectal cancer sample
VAR_045678 commonName VAR_045678
VAR_045682 commonName VAR_045682
VAR_045682 disease phenotype-associated
VAR_045682 phenoCommon Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]
VAR_045683 commonName VAR_045683
VAR_045683 disease phenotype-associated
VAR_045683 phenoCommon Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]
VAR_045684 commonName VAR_045684
VAR_045685 commonName VAR_045685
VAR_045686 commonName VAR_045686
VAR_045686 disease not phenotype-associated
VAR_045687 commonName VAR_045687
VAR_045688 commonName VAR_045688
VAR_045690 commonName VAR_045690
VAR_045690 disease not phenotype-associated
VAR_045691 commonName VAR_045691
VAR_045691 disease not phenotype-associated
VAR_045692 commonName VAR_045692
VAR_045692 disease not phenotype-associated
VAR_045693 commonName VAR_045693
VAR_045693 disease not phenotype-associated
VAR_045694 commonName VAR_045694
VAR_045694 disease phenotype-associated
VAR_045694 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045695 commonName VAR_045695
VAR_045695 disease phenotype-associated
VAR_045695 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045695 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045696 commonName VAR_045696
VAR_045696 disease phenotype-associated
VAR_045696 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045697 commonName VAR_045697
VAR_045697 disease phenotype-associated
VAR_045697 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045698 commonName VAR_045698
VAR_045698 disease phenotype-associated
VAR_045698 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045699 commonName VAR_045699
VAR_045699 disease phenotype-associated
VAR_045699 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045700 commonName VAR_045700
VAR_045700 disease phenotype-associated
VAR_045700 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045701 commonName VAR_045701
VAR_045701 disease phenotype-associated
VAR_045701 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045702 commonName VAR_045702
VAR_045702 disease phenotype-associated
VAR_045702 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045703 commonName VAR_045703
VAR_045703 disease phenotype-associated
VAR_045703 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045704 commonName VAR_045704
VAR_045704 disease phenotype-associated
VAR_045704 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045705 commonName VAR_045705
VAR_045705 disease phenotype-associated
VAR_045705 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045706 commonName VAR_045706
VAR_045706 disease phenotype-associated
VAR_045706 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045707 commonName VAR_045707
VAR_045707 disease phenotype-associated
VAR_045707 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045708 commonName VAR_045708
VAR_045708 disease phenotype-associated
VAR_045708 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045709 commonName VAR_045709
VAR_045709 disease phenotype-associated
VAR_045709 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045710 commonName VAR_045710
VAR_045710 disease not phenotype-associated
VAR_045711 commonName VAR_045711
VAR_045711 disease not phenotype-associated
VAR_045712 commonName VAR_045712
VAR_045712 disease phenotype-associated
VAR_045712 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045713 commonName VAR_045713
VAR_045713 disease phenotype-associated
VAR_045713 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045714 commonName VAR_045714
VAR_045714 disease phenotype-associated
VAR_045714 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045715 commonName VAR_045715
VAR_045715 disease phenotype-associated
VAR_045715 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045716 commonName VAR_045716
VAR_045716 disease phenotype-associated
VAR_045716 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045717 commonName VAR_045717
VAR_045717 disease phenotype-associated
VAR_045717 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045718 commonName VAR_045718
VAR_045718 disease phenotype-associated
VAR_045718 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045720 commonName VAR_045720
VAR_045720 disease phenotype-associated
VAR_045720 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045721 commonName VAR_045721
VAR_045721 disease phenotype-associated
VAR_045721 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045722 commonName VAR_045722
VAR_045722 disease phenotype-associated
VAR_045722 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045723 commonName VAR_045723
VAR_045723 disease phenotype-associated
VAR_045723 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045724 commonName VAR_045724
VAR_045724 disease phenotype-associated
VAR_045724 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045725 commonName VAR_045725
VAR_045725 disease phenotype-associated
VAR_045725 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045726 commonName VAR_045726
VAR_045726 disease phenotype-associated
VAR_045726 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045727 commonName VAR_045727
VAR_045727 disease phenotype-associated
VAR_045727 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045728 commonName VAR_045728
VAR_045728 disease phenotype-associated
VAR_045728 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045729 commonName VAR_045729
VAR_045729 disease phenotype-associated
VAR_045729 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045730 commonName VAR_045730
VAR_045730 disease phenotype-associated
VAR_045730 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045731 commonName VAR_045731
VAR_045731 disease not phenotype-associated
VAR_045732 commonName VAR_045732
VAR_045732 disease phenotype-associated
VAR_045732 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045733 commonName VAR_045733
VAR_045733 disease phenotype-associated
VAR_045733 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045734 commonName VAR_045734
VAR_045734 disease phenotype-associated
VAR_045734 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045735 commonName VAR_045735
VAR_045735 disease phenotype-associated
VAR_045735 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045736 commonName VAR_045736
VAR_045736 disease phenotype-associated
VAR_045736 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045738 commonName VAR_045738
VAR_045738 disease phenotype-associated
VAR_045738 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045739 commonName VAR_045739
VAR_045739 disease phenotype-associated
VAR_045739 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045740 commonName VAR_045740
VAR_045740 disease phenotype-associated
VAR_045740 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045741 commonName VAR_045741
VAR_045742 commonName VAR_045742
VAR_045742 disease phenotype-associated
VAR_045742 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045744 commonName VAR_045744
VAR_045744 disease phenotype-associated
VAR_045744 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045745 commonName VAR_045745
VAR_045745 disease phenotype-associated
VAR_045745 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045746 commonName VAR_045746
VAR_045746 disease not phenotype-associated
VAR_045747 commonName VAR_045747
VAR_045747 disease phenotype-associated
VAR_045747 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045748 commonName VAR_045748
VAR_045748 disease phenotype-associated
VAR_045748 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045749 commonName VAR_045749
VAR_045749 disease phenotype-associated
VAR_045749 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045750 commonName VAR_045750
VAR_045750 disease phenotype-associated
VAR_045750 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045751 commonName VAR_045751
VAR_045751 disease phenotype-associated
VAR_045751 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045752 commonName VAR_045752
VAR_045752 disease phenotype-associated
VAR_045752 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045753 commonName VAR_045753
VAR_045753 disease phenotype-associated
VAR_045753 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045754 commonName VAR_045754
VAR_045754 disease phenotype-associated
VAR_045754 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045755 commonName VAR_045755
VAR_045755 disease phenotype-associated
VAR_045755 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045756 commonName VAR_045756
VAR_045756 disease phenotype-associated
VAR_045756 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045757 commonName VAR_045757
VAR_045757 disease phenotype-associated
VAR_045757 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045758 commonName VAR_045758
VAR_045758 disease phenotype-associated
VAR_045758 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045759 commonName VAR_045759
VAR_045759 disease phenotype-associated
VAR_045759 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045760 commonName VAR_045760
VAR_045760 disease phenotype-associated
VAR_045760 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045760 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045762 commonName VAR_045762
VAR_045762 disease phenotype-associated
VAR_045762 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045763 commonName VAR_045763
VAR_045763 disease phenotype-associated
VAR_045763 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045765 commonName VAR_045765
VAR_045765 disease phenotype-associated
VAR_045765 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045766 commonName VAR_045766
VAR_045766 disease phenotype-associated
VAR_045766 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045767 commonName VAR_045767
VAR_045767 disease phenotype-associated
VAR_045767 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045768 commonName VAR_045768
VAR_045768 disease phenotype-associated
VAR_045768 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045769 commonName VAR_045769
VAR_045769 disease phenotype-associated
VAR_045769 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
HbVar.683 protEffect HBB 7(A3) Glu>Val AND HBB 24(B5) Val>Ile
VAR_045770 commonName VAR_045770
VAR_045770 disease phenotype-associated
VAR_045770 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045771 commonName VAR_045771
VAR_045771 disease phenotype-associated
VAR_045771 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045772 commonName VAR_045772
VAR_045772 disease phenotype-associated
VAR_045772 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045773 commonName VAR_045773
VAR_045773 disease phenotype-associated
VAR_045773 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045774 commonName VAR_045774
VAR_045774 disease phenotype-associated
VAR_045774 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045775 commonName VAR_045775
VAR_045775 disease phenotype-associated
VAR_045775 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045776 commonName VAR_045776
VAR_045776 disease phenotype-associated
VAR_045776 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045778 commonName VAR_045778
VAR_045778 disease phenotype-associated
VAR_045778 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045779 commonName VAR_045779
VAR_045779 disease phenotype-associated
VAR_045779 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045780 commonName VAR_045780
VAR_045780 disease phenotype-associated
VAR_045780 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_045781 commonName VAR_045781
VAR_045781 disease phenotype-associated
VAR_045781 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045782 commonName VAR_045782
VAR_045782 disease phenotype-associated
VAR_045782 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_045783 comment A sporadic cancer
VAR_045783 commonName VAR_045783
VAR_045784 comment Sporadic cancers
VAR_045784 commonName VAR_045784
VAR_045785 comment Sporadic cancers
VAR_045785 commonName VAR_045785
VAR_045786 comment Sporadic cancers
VAR_045786 commonName VAR_045786
VAR_045787 comment A sporadic cancer
VAR_045787 commonName VAR_045787
VAR_045788 comment A sporadic cancer
VAR_045788 commonName VAR_045788
VAR_045789 comment A sporadic cancer
VAR_045789 commonName VAR_045789
VAR_045790 comment A sporadic cancer
VAR_045790 commonName VAR_045790
VAR_045791 comment A sporadic cancer
VAR_045791 commonName VAR_045791
VAR_045792 comment A sporadic cancer
VAR_045792 commonName VAR_045792
VAR_045793 comment A sporadic cancer
VAR_045793 commonName VAR_045793
VAR_045794 comment Sporadic cancers
VAR_045794 commonName VAR_045794
VAR_045795 comment A sporadic cancer
VAR_045795 commonName VAR_045795
VAR_045796 comment Sporadic cancers
VAR_045796 commonName VAR_045796
VAR_045797 comment A sporadic cancer
VAR_045797 commonName VAR_045797
VAR_045798 comment A sporadic cancer
VAR_045798 commonName VAR_045798
VAR_045799 comment A sporadic cancer
VAR_045799 commonName VAR_045799
VAR_045800 comment A sporadic cancer
VAR_045800 commonName VAR_045800
VAR_045801 comment A sporadic cancer
VAR_045801 commonName VAR_045801
VAR_045802 comment A sporadic cancer
VAR_045802 commonName VAR_045802
VAR_045803 comment Sporadic cancers
VAR_045803 commonName VAR_045803
VAR_045804 comment A sporadic cancer
VAR_045804 commonName VAR_045804
VAR_045805 comment A sporadic cancer
VAR_045805 commonName VAR_045805
VAR_045806 comment A sporadic cancer
VAR_045806 commonName VAR_045806
VAR_045807 comment A sporadic cancer
VAR_045807 commonName VAR_045807
VAR_045808 comment A sporadic cancer
VAR_045808 commonName VAR_045808
VAR_045809 comment A sporadic cancer
VAR_045809 commonName VAR_045809
VAR_045810 comment Sporadic cancers
VAR_045810 commonName VAR_045810
VAR_045811 comment A sporadic cancer
VAR_045811 commonName VAR_045811
VAR_045812 comment A sporadic cancer
VAR_045812 commonName VAR_045812
VAR_045815 commonName VAR_045815
VAR_045815 disease not phenotype-associated
VAR_045816 commonName VAR_045816
VAR_045816 disease not phenotype-associated
VAR_045817 commonName VAR_045817
VAR_045817 disease not phenotype-associated
VAR_045818 commonName VAR_045818
VAR_045818 disease not phenotype-associated
VAR_045821 commonName VAR_045821
VAR_045821 disease not phenotype-associated
VAR_045823 commonName VAR_045823
VAR_045823 disease not phenotype-associated
VAR_045824 commonName VAR_045824
VAR_045824 disease not phenotype-associated
VAR_045825 commonName VAR_045825
VAR_045825 disease not phenotype-associated
VAR_045826 commonName VAR_045826
VAR_045826 disease not phenotype-associated
VAR_045827 commonName VAR_045827
VAR_045827 disease not phenotype-associated
VAR_045828 commonName VAR_045828
VAR_045828 disease not phenotype-associated
VAR_045829 commonName VAR_045829
VAR_045829 disease not phenotype-associated
VAR_045830 commonName VAR_045830
VAR_045830 disease not phenotype-associated
VAR_045831 commonName VAR_045831
VAR_045831 disease not phenotype-associated
VAR_045832 commonName VAR_045832
VAR_045832 disease not phenotype-associated
VAR_045833 commonName VAR_045833
VAR_045833 disease not phenotype-associated
VAR_045834 commonName VAR_045834
VAR_045834 disease not phenotype-associated
VAR_045835 commonName VAR_045835
VAR_045835 disease not phenotype-associated
VAR_045836 commonName VAR_045836
VAR_045836 disease not phenotype-associated
VAR_045838 commonName VAR_045838
VAR_045838 disease phenotype-associated
VAR_045838 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620]
VAR_045839 commonName VAR_045839
VAR_045839 disease phenotype-associated
VAR_045839 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620]
VAR_045840 commonName VAR_045840
VAR_045840 disease phenotype-associated
VAR_045840 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620]
VAR_045841 commonName VAR_045841
VAR_045841 disease phenotype-associated
VAR_045841 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620]
VAR_045842 commonName VAR_045842
VAR_045842 disease not phenotype-associated
VAR_045843 commonName VAR_045843
VAR_045843 disease not phenotype-associated
VAR_045844 comment A sporadic cancer
VAR_045844 commonName VAR_045844
VAR_045845 comment A sporadic cancer
VAR_045845 commonName VAR_045845
VAR_045846 comment A sporadic cancer
VAR_045846 commonName VAR_045846
VAR_045847 comment A sporadic cancer
VAR_045847 commonName VAR_045847
VAR_045848 comment A sporadic cancer
VAR_045848 commonName VAR_045848
VAR_045849 comment A sporadic cancer
VAR_045849 commonName VAR_045849
VAR_045850 comment A sporadic cancer
VAR_045850 commonName VAR_045850
VAR_045851 comment Sporadic cancers
VAR_045851 commonName VAR_045851
VAR_045852 comment A sporadic cancer
VAR_045852 commonName VAR_045852
VAR_045853 comment Sporadic cancers
VAR_045853 commonName VAR_045853
VAR_045854 comment Sporadic cancers
VAR_045854 commonName VAR_045854
VAR_045855 comment A sporadic cancer
VAR_045855 commonName VAR_045855
VAR_045856 comment A sporadic cancer
VAR_045856 commonName VAR_045856
VAR_045857 comment Sporadic cancers
VAR_045857 commonName VAR_045857
VAR_045858 comment Sporadic cancers
VAR_045858 commonName VAR_045858
VAR_045859 comment Sporadic cancers
VAR_045859 commonName VAR_045859
VAR_045860 comment A sporadic cancer
VAR_045860 commonName VAR_045860
VAR_045861 comment A sporadic cancer
VAR_045861 commonName VAR_045861
VAR_045862 comment A sporadic cancer
VAR_045862 commonName VAR_045862
VAR_045863 comment A sporadic cancer
VAR_045863 commonName VAR_045863
VAR_045864 comment A sporadic cancer
VAR_045864 commonName VAR_045864
VAR_045865 comment A sporadic cancer
VAR_045865 commonName VAR_045865
VAR_045866 comment A sporadic cancer
VAR_045866 commonName VAR_045866
VAR_045867 comment A sporadic cancer
VAR_045867 commonName VAR_045867
VAR_045868 comment A sporadic cancer
VAR_045868 commonName VAR_045868
VAR_045869 comment Sporadic cancers
VAR_045869 commonName VAR_045869
VAR_045870 comment A sporadic cancer
VAR_045870 commonName VAR_045870
VAR_045871 comment A sporadic cancer
VAR_045871 commonName VAR_045871
VAR_045872 comment A sporadic cancer
VAR_045872 commonName VAR_045872
VAR_045873 comment Sporadic cancers
VAR_045873 commonName VAR_045873
VAR_045874 comment A sporadic cancer
VAR_045874 commonName VAR_045874
VAR_045875 comment A sporadic cancer
VAR_045875 commonName VAR_045875
VAR_045876 commonName VAR_045876
VAR_045876 disease phenotype-associated
VAR_045876 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045877 commonName VAR_045877
VAR_045877 disease phenotype-associated
VAR_045877 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045878 commonName VAR_045878
VAR_045878 disease phenotype-associated
VAR_045878 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045879 commonName VAR_045879
VAR_045879 disease phenotype-associated
VAR_045879 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045880 commonName VAR_045880
VAR_045880 disease phenotype-associated
VAR_045880 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045881 commonName VAR_045881
VAR_045881 disease phenotype-associated
VAR_045881 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045882 commonName VAR_045882
VAR_045882 disease phenotype-associated
VAR_045882 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045883 commonName VAR_045883
VAR_045883 disease phenotype-associated
VAR_045883 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045884 commonName VAR_045884
VAR_045884 disease phenotype-associated
VAR_045884 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045885 commonName VAR_045885
VAR_045885 disease phenotype-associated
VAR_045885 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_045886 commonName VAR_045886
VAR_045886 disease not phenotype-associated
VAR_045887 commonName VAR_045887
VAR_045887 disease not phenotype-associated
VAR_045888 commonName VAR_045888
VAR_045888 disease not phenotype-associated
VAR_045889 commonName VAR_045889
VAR_045889 disease not phenotype-associated
VAR_045890 commonName VAR_045890
VAR_045890 disease not phenotype-associated
VAR_045891 commonName VAR_045891
VAR_045891 disease not phenotype-associated
VAR_045892 commonName VAR_045892
VAR_045892 disease not phenotype-associated
VAR_045897 commonName VAR_045897
VAR_045897 disease not phenotype-associated
VAR_045898 commonName VAR_045898
HbVar.683 commonName Hb S-Antilles
VAR_045898 disease phenotype-associated
VAR_045898 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]
VAR_045899 commonName VAR_045899
VAR_045899 disease phenotype-associated
VAR_045899 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592]
VAR_045900 commonName VAR_045900
VAR_045900 disease phenotype-associated
VAR_045900 phenoCommon Xanthinuria type 1 (XU1) [MIM:278300]
VAR_045901 commonName VAR_045901
VAR_045901 disease not phenotype-associated
VAR_045902 commonName VAR_045902
VAR_045902 disease phenotype-associated
VAR_045902 phenoCommon Familial erythrocytosis type 3 (ECYT3) [MIM:609820]
VAR_045903 commonName VAR_045903
VAR_045903 disease not phenotype-associated
VAR_045904 commonName VAR_045904
VAR_045904 disease not phenotype-associated
VAR_045906 commonName VAR_045906
VAR_045906 disease not phenotype-associated
VAR_045908 commonName VAR_045908
VAR_045908 disease not phenotype-associated
VAR_045909 commonName VAR_045909
VAR_045909 disease not phenotype-associated
VAR_045910 commonName VAR_045910
VAR_045910 disease not phenotype-associated
VAR_045911 commonName VAR_045911
VAR_045911 disease phenotype-associated
VAR_045911 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_045912 commonName VAR_045912
VAR_045912 disease not phenotype-associated
VAR_045915 commonName VAR_045915
VAR_045915 disease phenotype-associated
VAR_045915 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045916 commonName VAR_045916
VAR_045916 disease phenotype-associated
VAR_045916 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045917 commonName VAR_045917
VAR_045917 disease phenotype-associated
VAR_045917 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045918 commonName VAR_045918
VAR_045918 disease phenotype-associated
VAR_045918 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045919 commonName VAR_045919
VAR_045919 disease phenotype-associated
VAR_045919 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045920 commonName VAR_045920
VAR_045920 disease phenotype-associated
VAR_045920 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045921 commonName VAR_045921
VAR_045921 disease phenotype-associated
VAR_045921 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045922 commonName VAR_045922
VAR_045922 disease phenotype-associated
VAR_045922 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_045924 commonName VAR_045924
VAR_045924 disease phenotype-associated
VAR_045924 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_045925 commonName VAR_045925
VAR_045925 disease phenotype-associated
VAR_045925 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_045926 commonName VAR_045926
VAR_045926 disease phenotype-associated
VAR_045926 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_045927 commonName VAR_045927
VAR_045927 disease phenotype-associated
VAR_045927 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_045928 commonName VAR_045928
VAR_045928 disease phenotype-associated
VAR_045928 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]
VAR_045932 commonName VAR_045932
VAR_045932 disease phenotype-associated
VAR_045932 phenoCommon Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124]
VAR_045934 commonName VAR_045934
VAR_045934 disease phenotype-associated
VAR_045934 phenoCommon Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124]
VAR_045935 commonName VAR_045935
VAR_045935 disease phenotype-associated
VAR_045935 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045936 commonName VAR_045936
VAR_045936 disease phenotype-associated
VAR_045936 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045937 commonName VAR_045937
VAR_045937 disease not phenotype-associated
VAR_045938 commonName VAR_045938
VAR_045938 disease phenotype-associated
VAR_045938 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045939 commonName VAR_045939
VAR_045939 disease phenotype-associated
VAR_045939 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045940 commonName VAR_045940
VAR_045940 disease not phenotype-associated
VAR_045941 commonName VAR_045941
VAR_045941 disease phenotype-associated
VAR_045941 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045942 commonName VAR_045942
VAR_045942 disease not phenotype-associated
VAR_045943 commonName VAR_045943
VAR_045943 disease not phenotype-associated
VAR_045944 commonName VAR_045944
VAR_045944 disease phenotype-associated
VAR_045944 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045945 commonName VAR_045945
VAR_045945 disease phenotype-associated
VAR_045945 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045946 commonName VAR_045946
VAR_045946 disease phenotype-associated
VAR_045946 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045947 commonName VAR_045947
VAR_045947 disease phenotype-associated
VAR_045947 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045948 commonName VAR_045948
VAR_045948 disease not phenotype-associated
VAR_045949 commonName VAR_045949
VAR_045949 disease not phenotype-associated
VAR_045950 commonName VAR_045950
VAR_045950 disease phenotype-associated
VAR_045950 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045951 commonName VAR_045951
VAR_045951 disease phenotype-associated
VAR_045951 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045952 commonName VAR_045952
VAR_045952 disease phenotype-associated
VAR_045952 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942]
VAR_045953 commonName VAR_045953
VAR_045953 disease not phenotype-associated
VAR_045954 commonName VAR_045954
VAR_045954 disease not phenotype-associated
VAR_045955 commonName VAR_045955
VAR_045955 disease not phenotype-associated
VAR_045956 commonName VAR_045956
VAR_045956 disease not phenotype-associated
VAR_045957 commonName VAR_045957
VAR_045957 disease phenotype-associated
VAR_045957 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_045958 commonName VAR_045958
VAR_045958 disease phenotype-associated
VAR_045958 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_045959 commonName VAR_045959
VAR_045959 disease phenotype-associated
VAR_045959 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_045960 commonName VAR_045960
VAR_045960 disease phenotype-associated
VAR_045960 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_045961 commonName VAR_045961
VAR_045961 disease not phenotype-associated
VAR_045962 commonName VAR_045962
VAR_045962 disease phenotype-associated
VAR_045962 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
VAR_045963 commonName VAR_045963
VAR_045963 disease phenotype-associated
VAR_045963 phenoCommon Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
VAR_045965 commonName VAR_045965
VAR_045965 disease phenotype-associated
VAR_045965 phenoCommon Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
VAR_045967 commonName VAR_045967
VAR_045967 disease phenotype-associated
VAR_045967 phenoCommon Brooke-Spiegler syndrome (BRSS) [MIM:605041]
VAR_045967 phenoCommon Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]
VAR_045968 commonName VAR_045968
VAR_045968 disease not phenotype-associated
VAR_045969 commonName VAR_045969
VAR_045969 disease not phenotype-associated
VAR_045970 commonName VAR_045970
VAR_045970 disease not phenotype-associated
VAR_045971 commonName VAR_045971
VAR_045971 disease not phenotype-associated
VAR_045972 commonName VAR_045972
VAR_045972 disease not phenotype-associated
VAR_045973 commonName VAR_045973
VAR_045973 disease not phenotype-associated
VAR_045974 commonName VAR_045974
VAR_045974 disease not phenotype-associated
VAR_045975 commonName VAR_045975
VAR_045975 disease phenotype-associated
VAR_045975 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045976 commonName VAR_045976
VAR_045976 disease phenotype-associated
VAR_045976 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045977 commonName VAR_045977
VAR_045977 disease phenotype-associated
VAR_045977 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
VAR_045978 commonName VAR_045978
VAR_045978 disease phenotype-associated
VAR_045978 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045979 comment Follicular thyroid carcinoma samples
VAR_045979 commonName VAR_045979
VAR_045980 commonName VAR_045980
VAR_045980 disease phenotype-associated
VAR_045980 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
VAR_045981 commonName VAR_045981
VAR_045981 disease phenotype-associated
VAR_045981 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045982 commonName VAR_045982
VAR_045982 disease phenotype-associated
VAR_045982 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045983 commonName VAR_045983
VAR_045983 disease phenotype-associated
VAR_045983 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
VAR_045984 comment A Hurthle cell variant of papillary carcinoma sample
VAR_045984 commonName VAR_045984
VAR_045985 comment A Hurthle cell variant of papillary carcinoma sample
VAR_045985 commonName VAR_045985
VAR_045987 commonName VAR_045987
VAR_045987 disease not phenotype-associated
VAR_045988 commonName VAR_045988
VAR_045988 disease not phenotype-associated
VAR_045989 commonName VAR_045989
VAR_045989 disease not phenotype-associated
VAR_045990 commonName VAR_045990
VAR_045990 disease not phenotype-associated
VAR_045999 commonName VAR_045999
VAR_045999 disease phenotype-associated
VAR_045999 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
VAR_046000 commonName VAR_046000
VAR_046000 disease phenotype-associated
VAR_046000 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
VAR_046001 commonName VAR_046001
VAR_046001 disease phenotype-associated
VAR_046001 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
VAR_046002 commonName VAR_046002
VAR_046002 disease phenotype-associated
VAR_046002 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
VAR_046003 commonName VAR_046003
VAR_046003 disease phenotype-associated
VAR_046003 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_046004 commonName VAR_046004
VAR_046004 disease phenotype-associated
VAR_046004 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_046005 commonName VAR_046005
VAR_046005 disease phenotype-associated
VAR_046005 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_046006 commonName VAR_046006
VAR_046006 disease not phenotype-associated
VAR_046007 commonName VAR_046007
VAR_046007 disease not phenotype-associated
VAR_046008 commonName VAR_046008
VAR_046008 disease phenotype-associated
VAR_046008 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071]
VAR_046009 commonName VAR_046009
VAR_046009 disease not phenotype-associated
VAR_046011 commonName VAR_046011
VAR_046011 disease not phenotype-associated
VAR_046012 commonName VAR_046012
VAR_046012 disease phenotype-associated
VAR_046012 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046013 commonName VAR_046013
VAR_046013 disease phenotype-associated
VAR_046013 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046014 commonName VAR_046014
VAR_046014 disease phenotype-associated
VAR_046014 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046015 commonName VAR_046015
VAR_046015 disease phenotype-associated
VAR_046015 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046016 commonName VAR_046016
VAR_046016 disease phenotype-associated
VAR_046016 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046017 commonName VAR_046017
VAR_046017 disease phenotype-associated
VAR_046017 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046018 commonName VAR_046018
VAR_046018 disease phenotype-associated
VAR_046018 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046019 commonName VAR_046019
VAR_046019 disease phenotype-associated
VAR_046019 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046020 commonName VAR_046020
VAR_046020 disease phenotype-associated
VAR_046020 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046021 commonName VAR_046021
VAR_046021 disease phenotype-associated
VAR_046021 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046022 commonName VAR_046022
VAR_046022 disease phenotype-associated
VAR_046022 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046023 commonName VAR_046023
VAR_046023 disease phenotype-associated
VAR_046023 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046024 commonName VAR_046024
VAR_046024 disease phenotype-associated
VAR_046024 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046025 commonName VAR_046025
VAR_046025 disease phenotype-associated
VAR_046025 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046026 commonName VAR_046026
VAR_046026 disease phenotype-associated
VAR_046026 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046027 commonName VAR_046027
VAR_046027 disease phenotype-associated
VAR_046027 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046028 commonName VAR_046028
VAR_046028 disease phenotype-associated
VAR_046028 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046029 commonName VAR_046029
VAR_046029 disease phenotype-associated
VAR_046029 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046030 commonName VAR_046030
VAR_046030 disease phenotype-associated
VAR_046030 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046031 commonName VAR_046031
VAR_046031 disease phenotype-associated
VAR_046031 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046032 commonName VAR_046032
VAR_046032 disease phenotype-associated
VAR_046032 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046033 commonName VAR_046033
VAR_046033 disease phenotype-associated
VAR_046033 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046034 commonName VAR_046034
VAR_046034 disease phenotype-associated
VAR_046034 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
VAR_046042 commonName VAR_046042
VAR_046042 disease not phenotype-associated
VAR_046043 commonName VAR_046043
VAR_046043 disease not phenotype-associated
VAR_046044 commonName VAR_046044
VAR_046044 disease not phenotype-associated
VAR_046045 commonName VAR_046045
VAR_046045 disease not phenotype-associated
VAR_046046 commonName VAR_046046
VAR_046046 disease not phenotype-associated
VAR_046047 commonName VAR_046047
VAR_046047 disease not phenotype-associated
VAR_046050 commonName VAR_046050
VAR_046050 disease not phenotype-associated
VAR_046051 commonName VAR_046051
VAR_046051 disease not phenotype-associated
VAR_046052 commonName VAR_046052
VAR_046052 disease not phenotype-associated
VAR_046053 commonName VAR_046053
VAR_046053 disease not phenotype-associated
VAR_046054 comment A breast pleomorphic lobular carcinoma sample
VAR_046054 commonName VAR_046054
VAR_046055 comment An ovarian endometrioid cancer sample
VAR_046055 commonName VAR_046055
VAR_046056 commonName VAR_046056
VAR_046056 disease not phenotype-associated
VAR_046057 commonName VAR_046057
VAR_046057 disease not phenotype-associated
VAR_046058 commonName VAR_046058
VAR_046058 disease not phenotype-associated
VAR_046059 commonName VAR_046059
VAR_046059 disease not phenotype-associated
VAR_046060 commonName VAR_046060
VAR_046060 disease not phenotype-associated
VAR_046061 comment A gastric adenocarcinoma sample
VAR_046061 commonName VAR_046061
VAR_046062 commonName VAR_046062
VAR_046062 disease not phenotype-associated
VAR_046063 commonName VAR_046063
VAR_046063 disease not phenotype-associated
VAR_046064 commonName VAR_046064
VAR_046064 disease not phenotype-associated
VAR_046065 commonName VAR_046065
VAR_046065 disease not phenotype-associated
VAR_046066 commonName VAR_046066
VAR_046066 disease not phenotype-associated
VAR_046067 commonName VAR_046067
VAR_046067 disease not phenotype-associated
VAR_046068 commonName VAR_046068
VAR_046068 disease not phenotype-associated
VAR_046070 commonName VAR_046070
VAR_046070 disease not phenotype-associated
VAR_046071 comment A lung adenocarcinoma sample
VAR_046071 commonName VAR_046071
VAR_046095 commonName VAR_046095
VAR_046095 disease not phenotype-associated
VAR_046096 commonName VAR_046096
VAR_046096 disease not phenotype-associated
VAR_046097 commonName VAR_046097
VAR_046097 disease not phenotype-associated
VAR_046099 commonName VAR_046099
VAR_046099 disease not phenotype-associated
VAR_046100 commonName VAR_046100
VAR_046100 disease not phenotype-associated
VAR_046101 commonName VAR_046101
VAR_046101 disease not phenotype-associated
VAR_046102 commonName VAR_046102
VAR_046102 disease not phenotype-associated
VAR_046103 commonName VAR_046103
VAR_046104 comment A lung adenocarcinoma sample
VAR_046104 commonName VAR_046104
VAR_046105 comment A lung neuroendocrine carcinoma sample
VAR_046105 commonName VAR_046105
VAR_046106 commonName VAR_046106
VAR_046106 disease not phenotype-associated
VAR_046107 commonName VAR_046107
VAR_046107 disease not phenotype-associated
VAR_046108 commonName VAR_046108
VAR_046108 disease not phenotype-associated
VAR_046109 commonName VAR_046109
VAR_046109 disease not phenotype-associated
VAR_046110 commonName VAR_046110
VAR_046110 disease not phenotype-associated
VAR_046111 commonName VAR_046111
VAR_046111 disease not phenotype-associated
VAR_046112 commonName VAR_046112
VAR_046112 disease not phenotype-associated
VAR_046113 commonName VAR_046113
VAR_046113 disease not phenotype-associated
VAR_046114 commonName VAR_046114
VAR_046114 disease not phenotype-associated
VAR_046115 commonName VAR_046115
VAR_046115 disease not phenotype-associated
VAR_046116 commonName VAR_046116
VAR_046116 disease not phenotype-associated
VAR_046117 commonName VAR_046117
VAR_046117 disease not phenotype-associated
VAR_046118 commonName VAR_046118
VAR_046118 disease not phenotype-associated
VAR_046119 commonName VAR_046119
VAR_046119 disease not phenotype-associated
VAR_046120 commonName VAR_046120
VAR_046120 disease not phenotype-associated
VAR_046121 commonName VAR_046121
VAR_046121 disease not phenotype-associated
VAR_046122 commonName VAR_046122
VAR_046122 disease not phenotype-associated
VAR_046123 commonName VAR_046123
VAR_046123 disease not phenotype-associated
VAR_046124 commonName VAR_046124
VAR_046124 disease not phenotype-associated
VAR_046126 commonName VAR_046126
VAR_046126 disease not phenotype-associated
VAR_046130 commonName VAR_046130
VAR_046130 disease not phenotype-associated
VAR_046134 commonName VAR_046134
VAR_046134 disease not phenotype-associated
VAR_046135 commonName VAR_046135
VAR_046136 commonName VAR_046136
VAR_046136 disease not phenotype-associated
VAR_046145 commonName VAR_046145
VAR_046145 disease phenotype-associated
VAR_046145 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_046146 commonName VAR_046146
VAR_046146 disease phenotype-associated
VAR_046146 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_046148 commonName VAR_046148
VAR_046148 disease phenotype-associated
VAR_046148 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_046149 commonName VAR_046149
VAR_046149 disease phenotype-associated
VAR_046149 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_046150 commonName VAR_046150
VAR_046150 disease not phenotype-associated
VAR_046151 commonName VAR_046151
VAR_046151 disease not phenotype-associated
VAR_046157 commonName VAR_046157
VAR_046157 disease not phenotype-associated
VAR_046158 commonName VAR_046158
VAR_046158 disease not phenotype-associated
VAR_046159 commonName VAR_046159
VAR_046159 disease not phenotype-associated
VAR_046160 commonName VAR_046160
VAR_046160 disease not phenotype-associated
VAR_046161 commonName VAR_046161
VAR_046161 disease not phenotype-associated
VAR_046164 commonName VAR_046164
VAR_046164 disease not phenotype-associated
VAR_046165 commonName VAR_046165
VAR_046165 disease not phenotype-associated
VAR_046166 commonName VAR_046166
VAR_046166 disease not phenotype-associated
VAR_046167 commonName VAR_046167
VAR_046167 disease not phenotype-associated
VAR_046168 commonName VAR_046168
VAR_046168 disease not phenotype-associated
VAR_046169 commonName VAR_046169
VAR_046169 disease not phenotype-associated
VAR_046170 commonName VAR_046170
VAR_046170 disease not phenotype-associated
VAR_046171 commonName VAR_046171
VAR_046171 disease not phenotype-associated
VAR_046178 commonName VAR_046178
VAR_046178 disease not phenotype-associated
VAR_046179 commonName VAR_046179
VAR_046179 disease not phenotype-associated
VAR_046180 commonName VAR_046180
VAR_046180 disease not phenotype-associated
VAR_046181 commonName VAR_046181
VAR_046181 disease not phenotype-associated
VAR_046182 commonName VAR_046182
VAR_046182 disease not phenotype-associated
VAR_046183 commonName VAR_046183
VAR_046183 disease not phenotype-associated
VAR_046184 commonName VAR_046184
VAR_046184 disease not phenotype-associated
VAR_046185 commonName VAR_046185
VAR_046185 disease not phenotype-associated
VAR_046186 commonName VAR_046186
VAR_046186 disease not phenotype-associated
VAR_046187 commonName VAR_046187
VAR_046187 disease not phenotype-associated
VAR_046188 commonName VAR_046188
VAR_046188 disease not phenotype-associated
VAR_046189 commonName VAR_046189
VAR_046189 disease not phenotype-associated
VAR_046192 commonName VAR_046192
VAR_046192 disease not phenotype-associated
VAR_046193 commonName VAR_046193
VAR_046193 disease not phenotype-associated
VAR_046194 commonName VAR_046194
VAR_046194 disease not phenotype-associated
VAR_046195 commonName VAR_046195
VAR_046195 disease not phenotype-associated
VAR_046196 commonName VAR_046196
VAR_046196 disease not phenotype-associated
VAR_046197 commonName VAR_046197
VAR_046197 disease not phenotype-associated
VAR_046198 commonName VAR_046198
VAR_046198 disease not phenotype-associated
VAR_046199 commonName VAR_046199
VAR_046199 disease not phenotype-associated
VAR_046200 comment Some sporadic lung cancer sample
VAR_046200 commonName VAR_046200
VAR_046205 commonName VAR_046205
VAR_046205 disease phenotype-associated
VAR_046205 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]
VAR_046206 commonName VAR_046206
VAR_046206 disease phenotype-associated
VAR_046206 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]
VAR_046207 commonName VAR_046207
VAR_046207 disease phenotype-associated
VAR_046207 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]
VAR_046208 commonName VAR_046208
VAR_046208 disease phenotype-associated
VAR_046208 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]
VAR_046209 commonName VAR_046209
VAR_046209 disease phenotype-associated
VAR_046209 phenoCommon Cranioosteoarthropathy (COA) [MIM:259100]
VAR_046210 commonName VAR_046210
VAR_046210 disease not phenotype-associated
VAR_046211 commonName VAR_046211
VAR_046211 disease not phenotype-associated
VAR_046212 commonName VAR_046212
VAR_046212 disease not phenotype-associated
VAR_046214 commonName VAR_046214
VAR_046214 disease not phenotype-associated
VAR_046215 commonName VAR_046215
VAR_046215 disease phenotype-associated
VAR_046215 phenoCommon Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073]
VAR_046216 commonName VAR_046216
VAR_046216 disease phenotype-associated
VAR_046216 phenoCommon Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073]
VAR_046217 commonName VAR_046217
VAR_046217 disease phenotype-associated
VAR_046217 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046219 commonName VAR_046219
VAR_046219 disease phenotype-associated
VAR_046219 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046220 commonName VAR_046220
VAR_046220 disease phenotype-associated
VAR_046220 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046221 commonName VAR_046221
VAR_046221 disease phenotype-associated
VAR_046221 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046222 commonName VAR_046222
VAR_046222 disease phenotype-associated
VAR_046222 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046223 commonName VAR_046223
VAR_046223 disease phenotype-associated
VAR_046223 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046224 commonName VAR_046224
VAR_046224 disease phenotype-associated
VAR_046224 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]
VAR_046225 commonName VAR_046225
VAR_046225 disease not phenotype-associated
VAR_046226 commonName VAR_046226
VAR_046226 disease not phenotype-associated
VAR_046227 commonName VAR_046227
VAR_046227 disease not phenotype-associated
VAR_046228 commonName VAR_046228
VAR_046228 disease not phenotype-associated
VAR_046229 commonName VAR_046229
VAR_046229 disease not phenotype-associated
VAR_046230 commonName VAR_046230
VAR_046230 disease not phenotype-associated
VAR_046231 commonName VAR_046231
VAR_046231 disease not phenotype-associated
VAR_046232 commonName VAR_046232
VAR_046232 disease not phenotype-associated
VAR_046233 commonName VAR_046233
VAR_046233 disease not phenotype-associated
VAR_046234 commonName VAR_046234
VAR_046234 disease not phenotype-associated
VAR_046235 commonName VAR_046235
VAR_046235 disease not phenotype-associated
VAR_046236 commonName VAR_046236
VAR_046236 disease not phenotype-associated
VAR_046237 commonName VAR_046237
VAR_046237 disease not phenotype-associated
VAR_046238 commonName VAR_046238
VAR_046238 disease not phenotype-associated
VAR_046239 commonName VAR_046239
VAR_046240 commonName VAR_046240
VAR_046240 disease not phenotype-associated
VAR_046241 commonName VAR_046241
VAR_046241 disease not phenotype-associated
VAR_046242 commonName VAR_046242
VAR_046242 disease not phenotype-associated
VAR_046243 commonName VAR_046243
VAR_046243 disease not phenotype-associated
VAR_046244 commonName VAR_046244
VAR_046244 disease not phenotype-associated
VAR_046245 commonName VAR_046245
VAR_046245 disease not phenotype-associated
VAR_046246 commonName VAR_046246
VAR_046246 disease not phenotype-associated
VAR_046247 commonName VAR_046247
VAR_046247 disease not phenotype-associated
VAR_046248 commonName VAR_046248
VAR_046248 disease not phenotype-associated
VAR_046249 commonName VAR_046249
VAR_046249 disease phenotype-associated
VAR_046249 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046250 commonName VAR_046250
VAR_046250 disease phenotype-associated
VAR_046250 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046251 commonName VAR_046251
VAR_046251 disease phenotype-associated
VAR_046251 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046252 commonName VAR_046252
VAR_046252 disease phenotype-associated
VAR_046252 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046253 commonName VAR_046253
VAR_046253 disease phenotype-associated
VAR_046253 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046254 commonName VAR_046254
VAR_046254 disease phenotype-associated
VAR_046254 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046255 commonName VAR_046255
VAR_046255 disease phenotype-associated
VAR_046255 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046256 commonName VAR_046256
VAR_046256 disease phenotype-associated
VAR_046256 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046257 commonName VAR_046257
VAR_046257 disease phenotype-associated
VAR_046257 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046258 commonName VAR_046258
VAR_046258 disease phenotype-associated
VAR_046258 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046259 commonName VAR_046259
VAR_046259 disease phenotype-associated
VAR_046259 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046260 commonName VAR_046260
VAR_046260 disease phenotype-associated
VAR_046260 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046261 commonName VAR_046261
VAR_046261 disease phenotype-associated
VAR_046261 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046262 commonName VAR_046262
VAR_046262 disease phenotype-associated
VAR_046262 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046263 commonName VAR_046263
VAR_046263 disease phenotype-associated
VAR_046263 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046264 commonName VAR_046264
VAR_046264 disease phenotype-associated
VAR_046264 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046265 commonName VAR_046265
VAR_046265 disease phenotype-associated
VAR_046265 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046266 commonName VAR_046266
VAR_046266 disease phenotype-associated
VAR_046266 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046268 commonName VAR_046268
VAR_046268 disease phenotype-associated
VAR_046268 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046269 commonName VAR_046269
VAR_046269 disease phenotype-associated
VAR_046269 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046270 commonName VAR_046270
VAR_046270 disease phenotype-associated
VAR_046270 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046271 commonName VAR_046271
VAR_046271 disease phenotype-associated
VAR_046271 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046272 commonName VAR_046272
VAR_046272 disease phenotype-associated
VAR_046272 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046273 commonName VAR_046273
VAR_046273 disease phenotype-associated
VAR_046273 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046274 commonName VAR_046274
VAR_046274 disease phenotype-associated
VAR_046274 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046275 commonName VAR_046275
VAR_046275 disease phenotype-associated
VAR_046275 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046276 commonName VAR_046276
VAR_046276 disease phenotype-associated
VAR_046276 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046277 commonName VAR_046277
VAR_046277 disease phenotype-associated
VAR_046277 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046278 commonName VAR_046278
VAR_046278 disease phenotype-associated
VAR_046278 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_046279 commonName VAR_046279
VAR_046279 disease not phenotype-associated
VAR_046280 commonName VAR_046280
VAR_046280 disease not phenotype-associated
VAR_046281 commonName VAR_046281
VAR_046281 disease not phenotype-associated
VAR_046282 commonName VAR_046282
VAR_046282 disease not phenotype-associated
VAR_046283 commonName VAR_046283
VAR_046283 disease not phenotype-associated
VAR_046284 commonName VAR_046284
VAR_046284 disease not phenotype-associated
VAR_046285 commonName VAR_046285
VAR_046285 disease not phenotype-associated
VAR_046286 commonName VAR_046286
VAR_046286 disease not phenotype-associated
VAR_046287 commonName VAR_046287
VAR_046287 disease not phenotype-associated
VAR_046288 commonName VAR_046288
VAR_046288 disease not phenotype-associated
VAR_046289 commonName VAR_046289
VAR_046289 disease not phenotype-associated
VAR_046300 commonName VAR_046300
VAR_046300 disease not phenotype-associated
VAR_046301 commonName VAR_046301
VAR_046301 disease not phenotype-associated
VAR_046302 commonName VAR_046302
VAR_046302 disease not phenotype-associated
VAR_046303 commonName VAR_046303
VAR_046303 disease not phenotype-associated
VAR_046304 commonName VAR_046304
VAR_046304 disease not phenotype-associated
VAR_046305 commonName VAR_046305
VAR_046305 disease not phenotype-associated
VAR_046306 commonName VAR_046306
VAR_046306 disease not phenotype-associated
VAR_046307 commonName VAR_046307
VAR_046307 disease not phenotype-associated
VAR_046308 commonName VAR_046308
VAR_046308 disease not phenotype-associated
VAR_046309 commonName VAR_046309
VAR_046309 disease not phenotype-associated
VAR_046310 commonName VAR_046310
VAR_046310 disease not phenotype-associated
VAR_046311 commonName VAR_046311
VAR_046311 disease not phenotype-associated
VAR_046312 commonName VAR_046312
VAR_046312 disease not phenotype-associated
VAR_046313 commonName VAR_046313
VAR_046313 disease not phenotype-associated
VAR_046314 commonName VAR_046314
VAR_046314 disease not phenotype-associated
VAR_046315 commonName VAR_046315
VAR_046315 disease not phenotype-associated
VAR_046316 commonName VAR_046316
VAR_046316 disease not phenotype-associated
VAR_046317 commonName VAR_046317
VAR_046317 disease not phenotype-associated
VAR_046318 commonName VAR_046318
VAR_046318 disease not phenotype-associated
VAR_046319 commonName VAR_046319
VAR_046319 disease not phenotype-associated
VAR_046320 commonName VAR_046320
VAR_046320 disease not phenotype-associated
VAR_046321 commonName VAR_046321
VAR_046321 disease not phenotype-associated
VAR_046322 commonName VAR_046322
VAR_046322 disease not phenotype-associated
VAR_046323 commonName VAR_046323
VAR_046323 disease not phenotype-associated
VAR_046324 commonName VAR_046324
VAR_046324 disease not phenotype-associated
VAR_046325 commonName VAR_046325
VAR_046325 disease not phenotype-associated
VAR_046326 commonName VAR_046326
VAR_046326 disease not phenotype-associated
VAR_046327 commonName VAR_046327
VAR_046327 disease not phenotype-associated
VAR_046328 commonName VAR_046328
VAR_046328 disease not phenotype-associated
VAR_046329 commonName VAR_046329
VAR_046329 disease not phenotype-associated
VAR_046330 commonName VAR_046330
VAR_046330 disease not phenotype-associated
VAR_046331 commonName VAR_046331
VAR_046331 disease not phenotype-associated
VAR_046334 commonName VAR_046334
VAR_046334 disease not phenotype-associated
VAR_046335 commonName VAR_046335
VAR_046335 disease not phenotype-associated
VAR_046336 commonName VAR_046336
VAR_046336 disease not phenotype-associated
VAR_046337 commonName VAR_046337
VAR_046337 disease not phenotype-associated
VAR_046338 commonName VAR_046338
VAR_046338 disease not phenotype-associated
VAR_046339 commonName VAR_046339
VAR_046339 disease not phenotype-associated
VAR_046340 commonName VAR_046340
VAR_046340 disease not phenotype-associated
VAR_046341 commonName VAR_046341
VAR_046341 disease not phenotype-associated
VAR_046342 commonName VAR_046342
VAR_046342 disease not phenotype-associated
VAR_046343 commonName VAR_046343
VAR_046343 disease not phenotype-associated
VAR_046344 commonName VAR_046344
VAR_046344 disease not phenotype-associated
VAR_046346 commonName VAR_046346
VAR_046346 disease not phenotype-associated
VAR_046347 commonName VAR_046347
VAR_046347 disease not phenotype-associated
VAR_046348 commonName VAR_046348
VAR_046348 disease not phenotype-associated
VAR_046349 commonName VAR_046349
VAR_046349 disease not phenotype-associated
VAR_046350 commonName VAR_046350
VAR_046350 disease not phenotype-associated
VAR_046351 commonName VAR_046351
VAR_046351 disease not phenotype-associated
VAR_046352 commonName VAR_046352
VAR_046352 disease not phenotype-associated
VAR_046353 commonName VAR_046353
VAR_046353 disease not phenotype-associated
VAR_046354 commonName VAR_046354
VAR_046354 disease not phenotype-associated
VAR_046355 commonName VAR_046355
VAR_046355 disease not phenotype-associated
VAR_046356 commonName VAR_046356
VAR_046356 disease not phenotype-associated
VAR_046357 commonName VAR_046357
VAR_046357 disease not phenotype-associated
VAR_046358 commonName VAR_046358
VAR_046358 disease not phenotype-associated
VAR_046359 commonName VAR_046359
VAR_046359 disease not phenotype-associated
VAR_046360 commonName VAR_046360
VAR_046360 disease not phenotype-associated
VAR_046361 commonName VAR_046361
VAR_046361 disease not phenotype-associated
VAR_046362 commonName VAR_046362
VAR_046362 disease not phenotype-associated
VAR_046363 commonName VAR_046363
VAR_046363 disease not phenotype-associated
VAR_046364 commonName VAR_046364
VAR_046364 disease not phenotype-associated
VAR_046365 commonName VAR_046365
VAR_046365 disease not phenotype-associated
VAR_046366 commonName VAR_046366
VAR_046366 disease not phenotype-associated
VAR_046367 commonName VAR_046367
VAR_046367 disease not phenotype-associated
VAR_046368 commonName VAR_046368
VAR_046368 disease not phenotype-associated
VAR_046369 commonName VAR_046369
VAR_046369 disease not phenotype-associated
VAR_046370 commonName VAR_046370
VAR_046370 disease not phenotype-associated
VAR_046371 commonName VAR_046371
VAR_046371 disease not phenotype-associated
VAR_046372 commonName VAR_046372
VAR_046372 disease not phenotype-associated
VAR_046373 commonName VAR_046373
VAR_046373 disease not phenotype-associated
VAR_046376 commonName VAR_046376
VAR_046376 disease not phenotype-associated
VAR_046377 commonName VAR_046377
VAR_046377 disease not phenotype-associated
VAR_046378 commonName VAR_046378
VAR_046378 disease not phenotype-associated
VAR_046380 commonName VAR_046380
VAR_046380 disease not phenotype-associated
VAR_046381 commonName VAR_046381
VAR_046381 disease not phenotype-associated
VAR_046383 commonName VAR_046383
VAR_046383 disease phenotype-associated
VAR_046383 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046384 commonName VAR_046384
VAR_046384 disease phenotype-associated
VAR_046384 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046387 commonName VAR_046387
VAR_046387 disease phenotype-associated
VAR_046387 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046388 commonName VAR_046388
VAR_046388 disease phenotype-associated
VAR_046388 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046389 commonName VAR_046389
VAR_046389 disease phenotype-associated
VAR_046389 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046390 commonName VAR_046390
VAR_046390 disease phenotype-associated
VAR_046390 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046391 commonName VAR_046391
VAR_046391 disease phenotype-associated
VAR_046391 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046392 commonName VAR_046392
VAR_046392 disease phenotype-associated
VAR_046392 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046393 commonName VAR_046393
VAR_046393 disease phenotype-associated
VAR_046393 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046394 commonName VAR_046394
VAR_046394 disease phenotype-associated
VAR_046394 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046395 commonName VAR_046395
VAR_046395 disease phenotype-associated
VAR_046395 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046396 commonName VAR_046396
VAR_046396 disease phenotype-associated
VAR_046396 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046397 commonName VAR_046397
VAR_046397 disease phenotype-associated
VAR_046397 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046398 commonName VAR_046398
VAR_046398 disease phenotype-associated
VAR_046398 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046399 commonName VAR_046399
VAR_046399 disease phenotype-associated
VAR_046399 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046401 commonName VAR_046401
VAR_046401 disease phenotype-associated
VAR_046401 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
VAR_046402 commonName VAR_046402
VAR_046402 disease not phenotype-associated
VAR_046403 commonName VAR_046403
VAR_046403 disease not phenotype-associated
VAR_046404 commonName VAR_046404
VAR_046404 disease phenotype-associated
VAR_046404 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_046405 commonName VAR_046405
VAR_046405 disease phenotype-associated
VAR_046405 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_046406 commonName VAR_046406
VAR_046406 disease not phenotype-associated
VAR_046407 commonName VAR_046407
VAR_046407 disease phenotype-associated
VAR_046407 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046408 commonName VAR_046408
VAR_046408 disease not phenotype-associated
VAR_046409 commonName VAR_046409
VAR_046409 disease not phenotype-associated
VAR_046410 commonName VAR_046410
VAR_046410 disease phenotype-associated
VAR_046410 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046411 commonName VAR_046411
VAR_046411 disease phenotype-associated
VAR_046411 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046412 commonName VAR_046412
VAR_046412 disease not phenotype-associated
VAR_046413 commonName VAR_046413
VAR_046413 disease not phenotype-associated
VAR_046414 commonName VAR_046414
VAR_046414 disease not phenotype-associated
VAR_046415 commonName VAR_046415
VAR_046415 disease not phenotype-associated
VAR_046416 commonName VAR_046416
VAR_046416 disease not phenotype-associated
VAR_046417 commonName VAR_046417
VAR_046417 disease not phenotype-associated
VAR_046418 commonName VAR_046418
VAR_046418 disease phenotype-associated
VAR_046418 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_046419 commonName VAR_046419
VAR_046419 disease phenotype-associated
VAR_046419 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046420 commonName VAR_046420
VAR_046420 disease not phenotype-associated
VAR_046421 commonName VAR_046421
VAR_046421 disease not phenotype-associated
VAR_046422 commonName VAR_046422
VAR_046422 disease not phenotype-associated
VAR_046423 commonName VAR_046423
VAR_046423 disease phenotype-associated
VAR_046423 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046424 commonName VAR_046424
VAR_046424 disease phenotype-associated
VAR_046424 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046425 commonName VAR_046425
VAR_046425 disease phenotype-associated
VAR_046425 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
VAR_046426 commonName VAR_046426
VAR_046426 disease not phenotype-associated
VAR_046427 commonName VAR_046427
VAR_046427 disease not phenotype-associated
VAR_046428 commonName VAR_046428
VAR_046428 disease not phenotype-associated
VAR_046429 commonName VAR_046429
VAR_046429 disease phenotype-associated
VAR_046429 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046430 commonName VAR_046430
VAR_046430 disease not phenotype-associated
VAR_046431 commonName VAR_046431
VAR_046431 disease not phenotype-associated
VAR_046432 commonName VAR_046432
VAR_046432 disease phenotype-associated
VAR_046432 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046433 commonName VAR_046433
VAR_046433 disease not phenotype-associated
VAR_046434 commonName VAR_046434
VAR_046434 disease phenotype-associated
VAR_046434 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046435 commonName VAR_046435
VAR_046435 disease not phenotype-associated
VAR_046436 commonName VAR_046436
VAR_046437 commonName VAR_046437
VAR_046437 disease phenotype-associated
VAR_046437 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067]
VAR_046438 commonName VAR_046438
VAR_046438 disease not phenotype-associated
VAR_046442 commonName VAR_046442
VAR_046442 disease not phenotype-associated
VAR_046443 commonName VAR_046443
VAR_046443 disease not phenotype-associated
VAR_046444 commonName VAR_046444
VAR_046444 disease not phenotype-associated
VAR_046445 commonName VAR_046445
VAR_046445 disease not phenotype-associated
VAR_046446 commonName VAR_046446
VAR_046446 disease not phenotype-associated
VAR_046447 commonName VAR_046447
VAR_046447 disease not phenotype-associated
VAR_046448 commonName VAR_046448
VAR_046448 disease not phenotype-associated
VAR_046450 commonName VAR_046450
VAR_046450 disease not phenotype-associated
VAR_046451 comment Gastric-carcinoma cell line
VAR_046451 commonName VAR_046451
VAR_046452 comment Gastric-carcinoma cell line
VAR_046452 commonName VAR_046452
VAR_046453 commonName VAR_046453
VAR_046453 disease not phenotype-associated
VAR_046454 comment Gastric-carcinoma cell line
VAR_046454 commonName VAR_046454
VAR_046464 commonName VAR_046464
VAR_046464 disease not phenotype-associated
VAR_046465 commonName VAR_046465
VAR_046465 disease not phenotype-associated
VAR_046466 commonName VAR_046466
VAR_046466 disease not phenotype-associated
VAR_046467 commonName VAR_046467
VAR_046467 disease phenotype-associated
VAR_046467 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046468 commonName VAR_046468
VAR_046468 disease phenotype-associated
VAR_046468 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046469 commonName VAR_046469
VAR_046469 disease phenotype-associated
VAR_046469 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046470 commonName VAR_046470
VAR_046470 disease phenotype-associated
VAR_046470 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046471 commonName VAR_046471
VAR_046471 disease phenotype-associated
VAR_046471 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046472 commonName VAR_046472
VAR_046472 disease phenotype-associated
VAR_046472 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046473 commonName VAR_046473
VAR_046473 disease phenotype-associated
VAR_046473 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046475 commonName VAR_046475
VAR_046475 disease phenotype-associated
VAR_046475 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046476 commonName VAR_046476
VAR_046476 disease phenotype-associated
VAR_046476 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046477 commonName VAR_046477
VAR_046477 disease phenotype-associated
VAR_046477 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046478 commonName VAR_046478
VAR_046478 disease phenotype-associated
VAR_046478 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046479 commonName VAR_046479
VAR_046479 disease phenotype-associated
VAR_046479 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_046480 commonName VAR_046480
VAR_046480 disease not phenotype-associated
VAR_046481 commonName VAR_046481
VAR_046481 disease not phenotype-associated
VAR_046482 commonName VAR_046482
VAR_046482 disease not phenotype-associated
VAR_046483 commonName VAR_046483
VAR_046483 disease not phenotype-associated
VAR_046484 commonName VAR_046484
VAR_046484 disease phenotype-associated
VAR_046484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_046485 commonName VAR_046485
VAR_046485 disease phenotype-associated
VAR_046485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_046486 commonName VAR_046486
VAR_046486 disease not phenotype-associated
VAR_046488 commonName VAR_046488
VAR_046488 disease not phenotype-associated
VAR_046489 commonName VAR_046489
VAR_046489 disease not phenotype-associated
VAR_046490 commonName VAR_046490
VAR_046490 disease phenotype-associated
VAR_046490 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046491 commonName VAR_046491
VAR_046491 disease phenotype-associated
VAR_046491 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046492 commonName VAR_046492
VAR_046492 disease phenotype-associated
VAR_046492 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046493 commonName VAR_046493
VAR_046493 disease phenotype-associated
VAR_046493 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046494 commonName VAR_046494
VAR_046494 disease phenotype-associated
VAR_046494 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046495 commonName VAR_046495
VAR_046495 disease phenotype-associated
VAR_046495 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046496 commonName VAR_046496
VAR_046496 disease phenotype-associated
VAR_046496 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046497 commonName VAR_046497
VAR_046497 disease phenotype-associated
VAR_046497 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046498 commonName VAR_046498
VAR_046498 disease phenotype-associated
VAR_046498 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_046502 commonName VAR_046502
VAR_046502 disease phenotype-associated
VAR_046502 phenoCommon Atrial septal defect type 5 (ASD5) [MIM:612794]
VAR_046503 commonName VAR_046503
VAR_046503 disease phenotype-associated
VAR_046503 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_046504 commonName VAR_046504
VAR_046504 disease phenotype-associated
VAR_046504 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
VAR_046505 commonName VAR_046505
VAR_046505 disease not phenotype-associated
VAR_046506 commonName VAR_046506
VAR_046506 disease not phenotype-associated
VAR_046507 commonName VAR_046507
VAR_046507 disease phenotype-associated
VAR_046507 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046508 commonName VAR_046508
VAR_046508 disease phenotype-associated
VAR_046508 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046509 commonName VAR_046509
VAR_046509 disease phenotype-associated
VAR_046509 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046510 commonName VAR_046510
VAR_046510 disease phenotype-associated
VAR_046510 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046511 commonName VAR_046511
VAR_046511 disease phenotype-associated
VAR_046511 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046512 commonName VAR_046512
VAR_046512 disease phenotype-associated
VAR_046512 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
VAR_046518 comment A lung carcinoma sample
VAR_046518 commonName VAR_046518
VAR_046519 comment A lung carcinoma sample
VAR_046519 commonName VAR_046519
VAR_046520 comment A lung carcinoma sample
VAR_046520 commonName VAR_046520
VAR_046521 comment A lung carcinoma sample
VAR_046521 commonName VAR_046521
VAR_046522 comment A lung carcinoma sample
VAR_046522 commonName VAR_046522
VAR_046523 comment A lung carcinoma sample
VAR_046523 commonName VAR_046523
VAR_046524 comment A lung carcinoma sample
VAR_046524 commonName VAR_046524
VAR_046525 commonName VAR_046525
VAR_046525 disease not phenotype-associated
VAR_046526 commonName VAR_046526
VAR_046526 disease not phenotype-associated
VAR_046527 commonName VAR_046527
VAR_046527 disease not phenotype-associated
VAR_046528 commonName VAR_046528
VAR_046528 disease not phenotype-associated
VAR_046529 commonName VAR_046529
VAR_046529 disease not phenotype-associated
VAR_046530 commonName VAR_046530
VAR_046530 disease not phenotype-associated
VAR_046531 commonName VAR_046531
VAR_046531 disease not phenotype-associated
VAR_046532 commonName VAR_046532
VAR_046532 disease not phenotype-associated
VAR_046533 commonName VAR_046533
VAR_046533 disease not phenotype-associated
VAR_046536 commonName VAR_046536
VAR_046536 disease not phenotype-associated
VAR_046537 commonName VAR_046537
VAR_046537 disease not phenotype-associated
VAR_046538 commonName VAR_046538
VAR_046538 disease not phenotype-associated
VAR_046539 commonName VAR_046539
VAR_046539 disease not phenotype-associated
VAR_046540 commonName VAR_046540
VAR_046540 disease not phenotype-associated
VAR_046541 commonName VAR_046541
VAR_046541 disease not phenotype-associated
VAR_046542 commonName VAR_046542
VAR_046542 disease not phenotype-associated
VAR_046543 commonName VAR_046543
VAR_046543 disease not phenotype-associated
VAR_046544 commonName VAR_046544
VAR_046544 disease not phenotype-associated
VAR_046545 commonName VAR_046545
VAR_046545 disease not phenotype-associated
VAR_046546 commonName VAR_046546
VAR_046546 disease not phenotype-associated
VAR_046547 commonName VAR_046547
VAR_046547 disease not phenotype-associated
VAR_046548 commonName VAR_046548
VAR_046548 disease not phenotype-associated
VAR_046549 commonName VAR_046549
VAR_046549 disease not phenotype-associated
VAR_046550 commonName VAR_046550
VAR_046550 disease not phenotype-associated
VAR_046551 commonName VAR_046551
VAR_046551 disease not phenotype-associated
VAR_046552 commonName VAR_046552
VAR_046552 disease not phenotype-associated
VAR_046553 commonName VAR_046553
VAR_046553 disease not phenotype-associated
VAR_046554 commonName VAR_046554
VAR_046554 disease not phenotype-associated
VAR_046555 commonName VAR_046555
VAR_046555 disease not phenotype-associated
VAR_046556 commonName VAR_046556
VAR_046556 disease not phenotype-associated
VAR_046557 commonName VAR_046557
VAR_046557 disease not phenotype-associated
VAR_046558 commonName VAR_046558
VAR_046558 disease not phenotype-associated
VAR_046559 commonName VAR_046559
VAR_046559 disease not phenotype-associated
VAR_046560 commonName VAR_046560
VAR_046560 disease not phenotype-associated
VAR_046561 commonName VAR_046561
VAR_046561 disease not phenotype-associated
VAR_046563 commonName VAR_046563
VAR_046563 disease not phenotype-associated
VAR_046564 commonName VAR_046564
VAR_046564 disease not phenotype-associated
VAR_046565 commonName VAR_046565
VAR_046565 disease not phenotype-associated
VAR_046566 commonName VAR_046566
VAR_046566 disease not phenotype-associated
VAR_046567 commonName VAR_046567
VAR_046567 disease not phenotype-associated
VAR_046568 commonName VAR_046568
VAR_046568 disease phenotype-associated
VAR_046568 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046569 commonName VAR_046569
VAR_046569 disease not phenotype-associated
VAR_046570 commonName VAR_046570
VAR_046570 disease not phenotype-associated
VAR_046571 commonName VAR_046571
VAR_046571 disease not phenotype-associated
VAR_046572 commonName VAR_046572
VAR_046572 disease not phenotype-associated
VAR_046573 commonName VAR_046573
VAR_046573 disease not phenotype-associated
VAR_046574 commonName VAR_046574
VAR_046574 disease phenotype-associated
VAR_046574 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046575 commonName VAR_046575
VAR_046575 disease phenotype-associated
VAR_046575 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046576 commonName VAR_046576
VAR_046576 disease not phenotype-associated
VAR_046577 commonName VAR_046577
VAR_046577 disease phenotype-associated
VAR_046577 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046578 commonName VAR_046578
VAR_046578 disease phenotype-associated
VAR_046578 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046579 commonName VAR_046579
VAR_046579 disease not phenotype-associated
VAR_046580 commonName VAR_046580
VAR_046580 disease not phenotype-associated
VAR_046581 commonName VAR_046581
VAR_046581 disease phenotype-associated
VAR_046581 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046582 commonName VAR_046582
VAR_046582 disease not phenotype-associated
VAR_046583 commonName VAR_046583
VAR_046583 disease not phenotype-associated
VAR_046584 commonName VAR_046584
VAR_046584 disease phenotype-associated
VAR_046584 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046585 commonName VAR_046585
VAR_046585 disease phenotype-associated
VAR_046585 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046586 commonName VAR_046586
VAR_046586 disease not phenotype-associated
VAR_046587 commonName VAR_046587
VAR_046587 disease phenotype-associated
VAR_046587 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046588 commonName VAR_046588
VAR_046588 disease not phenotype-associated
VAR_046589 commonName VAR_046589
VAR_046589 disease phenotype-associated
VAR_046589 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046590 commonName VAR_046590
VAR_046590 disease not phenotype-associated
VAR_046591 commonName VAR_046591
VAR_046591 disease not phenotype-associated
VAR_046592 commonName VAR_046592
VAR_046592 disease not phenotype-associated
VAR_046593 commonName VAR_046593
VAR_046593 disease phenotype-associated
VAR_046593 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046594 commonName VAR_046594
VAR_046594 disease not phenotype-associated
VAR_046595 commonName VAR_046595
VAR_046595 disease not phenotype-associated
VAR_046596 commonName VAR_046596
VAR_046596 disease phenotype-associated
VAR_046596 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046597 commonName VAR_046597
VAR_046597 disease not phenotype-associated
VAR_046598 commonName VAR_046598
VAR_046598 disease not phenotype-associated
VAR_046599 commonName VAR_046599
VAR_046599 disease phenotype-associated
VAR_046599 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046600 commonName VAR_046600
VAR_046600 disease not phenotype-associated
VAR_046601 commonName VAR_046601
VAR_046602 commonName VAR_046602
VAR_046602 disease not phenotype-associated
VAR_046603 commonName VAR_046603
VAR_046604 commonName VAR_046604
VAR_046604 disease not phenotype-associated
VAR_046605 commonName VAR_046605
VAR_046605 disease phenotype-associated
VAR_046605 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046606 commonName VAR_046606
VAR_046607 commonName VAR_046607
VAR_046607 disease phenotype-associated
VAR_046607 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_046608 commonName VAR_046608
VAR_046609 commonName VAR_046609
VAR_046609 disease not phenotype-associated
VAR_046611 commonName VAR_046611
VAR_046611 disease not phenotype-associated
VAR_046612 commonName VAR_046612
VAR_046613 commonName VAR_046613
VAR_046613 disease not phenotype-associated
VAR_046614 commonName VAR_046614
VAR_046614 disease not phenotype-associated
VAR_046615 commonName VAR_046615
VAR_046615 disease not phenotype-associated
VAR_046616 commonName VAR_046616
VAR_046616 disease not phenotype-associated
VAR_046617 commonName VAR_046617
VAR_046617 disease not phenotype-associated
VAR_046618 commonName VAR_046618
VAR_046618 disease not phenotype-associated
VAR_046619 commonName VAR_046619
VAR_046619 disease not phenotype-associated
VAR_046620 commonName VAR_046620
VAR_046620 disease not phenotype-associated
VAR_046621 commonName VAR_046621
VAR_046621 disease not phenotype-associated
VAR_046624 commonName VAR_046624
VAR_046624 disease not phenotype-associated
VAR_046625 commonName VAR_046625
VAR_046625 disease not phenotype-associated
VAR_046626 commonName VAR_046626
VAR_046626 disease not phenotype-associated
VAR_046627 commonName VAR_046627
VAR_046627 disease not phenotype-associated
VAR_046628 commonName VAR_046628
VAR_046628 disease not phenotype-associated
VAR_046631 commonName VAR_046631
VAR_046631 disease not phenotype-associated
VAR_046632 commonName VAR_046632
VAR_046632 disease not phenotype-associated
VAR_046633 commonName VAR_046633
VAR_046633 disease not phenotype-associated
VAR_046634 commonName VAR_046634
VAR_046634 disease not phenotype-associated
VAR_046635 commonName VAR_046635
VAR_046635 disease not phenotype-associated
VAR_046636 commonName VAR_046636
VAR_046636 disease not phenotype-associated
VAR_046637 commonName VAR_046637
VAR_046637 disease not phenotype-associated
VAR_046638 commonName VAR_046638
VAR_046638 disease not phenotype-associated
VAR_046639 commonName VAR_046639
VAR_046639 disease not phenotype-associated
VAR_046642 commonName VAR_046642
VAR_046642 disease not phenotype-associated
VAR_046643 commonName VAR_046643
VAR_046643 disease not phenotype-associated
VAR_046644 commonName VAR_046644
VAR_046644 disease not phenotype-associated
VAR_046645 commonName VAR_046645
VAR_046645 disease not phenotype-associated
VAR_046646 commonName VAR_046646
VAR_046646 disease not phenotype-associated
VAR_046647 commonName VAR_046647
VAR_046647 disease not phenotype-associated
VAR_046648 commonName VAR_046648
VAR_046648 disease not phenotype-associated
VAR_046651 commonName VAR_046651
VAR_046651 disease not phenotype-associated
VAR_046652 commonName VAR_046652
VAR_046652 disease not phenotype-associated
VAR_046653 commonName VAR_046653
VAR_046653 disease not phenotype-associated
VAR_046654 commonName VAR_046654
VAR_046654 disease not phenotype-associated
VAR_046661 commonName VAR_046661
VAR_046661 disease not phenotype-associated
VAR_046662 commonName VAR_046662
VAR_046662 disease not phenotype-associated
VAR_046663 commonName VAR_046663
VAR_046663 disease not phenotype-associated
VAR_046664 commonName VAR_046664
VAR_046664 disease not phenotype-associated
VAR_046665 commonName VAR_046665
VAR_046665 disease not phenotype-associated
VAR_046667 commonName VAR_046667
VAR_046667 disease not phenotype-associated
VAR_046668 commonName VAR_046668
VAR_046668 disease not phenotype-associated
VAR_046669 commonName VAR_046669
VAR_046669 disease not phenotype-associated
VAR_046672 commonName VAR_046672
VAR_046672 disease not phenotype-associated
VAR_046673 commonName VAR_046673
VAR_046673 disease not phenotype-associated
VAR_046674 commonName VAR_046674
VAR_046674 disease not phenotype-associated
VAR_046675 commonName VAR_046675
VAR_046675 disease not phenotype-associated
VAR_046676 commonName VAR_046676
VAR_046676 disease not phenotype-associated
VAR_046677 commonName VAR_046677
VAR_046677 disease not phenotype-associated
VAR_046678 commonName VAR_046678
VAR_046678 disease not phenotype-associated
VAR_046679 commonName VAR_046679
VAR_046679 disease not phenotype-associated
VAR_046680 commonName VAR_046680
VAR_046680 disease not phenotype-associated
VAR_046681 commonName VAR_046681
VAR_046681 disease not phenotype-associated
VAR_046682 commonName VAR_046682
VAR_046682 disease not phenotype-associated
VAR_046683 commonName VAR_046683
VAR_046683 disease not phenotype-associated
VAR_046684 commonName VAR_046684
VAR_046684 disease not phenotype-associated
VAR_046685 commonName VAR_046685
VAR_046685 disease not phenotype-associated
VAR_046686 commonName VAR_046686
VAR_046686 disease not phenotype-associated
VAR_046687 commonName VAR_046687
VAR_046687 disease not phenotype-associated
VAR_046688 commonName VAR_046688
VAR_046688 disease not phenotype-associated
VAR_046689 commonName VAR_046689
VAR_046689 disease not phenotype-associated
VAR_046690 commonName VAR_046690
VAR_046690 disease not phenotype-associated
VAR_046691 commonName VAR_046691
VAR_046691 disease not phenotype-associated
VAR_046692 commonName VAR_046692
VAR_046692 disease not phenotype-associated
VAR_046693 commonName VAR_046693
VAR_046693 disease not phenotype-associated
VAR_046694 commonName VAR_046694
VAR_046694 disease not phenotype-associated
VAR_046695 commonName VAR_046695
VAR_046695 disease not phenotype-associated
VAR_046696 commonName VAR_046696
VAR_046696 disease not phenotype-associated
VAR_046697 commonName VAR_046697
VAR_046697 disease not phenotype-associated
VAR_046698 commonName VAR_046698
VAR_046698 disease not phenotype-associated
VAR_046699 commonName VAR_046699
VAR_046699 disease not phenotype-associated
VAR_046700 commonName VAR_046700
VAR_046700 disease not phenotype-associated
VAR_046701 commonName VAR_046701
VAR_046701 disease not phenotype-associated
VAR_046702 commonName VAR_046702
VAR_046702 disease not phenotype-associated
VAR_046703 commonName VAR_046703
VAR_046703 disease not phenotype-associated
VAR_046704 commonName VAR_046704
VAR_046704 disease not phenotype-associated
VAR_046705 commonName VAR_046705
VAR_046705 disease not phenotype-associated
VAR_046706 commonName VAR_046706
VAR_046706 disease not phenotype-associated
VAR_046707 commonName VAR_046707
VAR_046707 disease not phenotype-associated
VAR_046708 commonName VAR_046708
VAR_046708 disease not phenotype-associated
VAR_046709 commonName VAR_046709
VAR_046709 disease not phenotype-associated
VAR_046710 commonName VAR_046710
VAR_046710 disease not phenotype-associated
VAR_046711 commonName VAR_046711
VAR_046711 disease not phenotype-associated
VAR_046712 commonName VAR_046712
VAR_046712 disease not phenotype-associated
VAR_046717 commonName VAR_046717
VAR_046717 disease not phenotype-associated
VAR_046718 commonName VAR_046718
VAR_046718 disease not phenotype-associated
VAR_046719 commonName VAR_046719
VAR_046719 disease not phenotype-associated
VAR_046720 commonName VAR_046720
VAR_046720 disease not phenotype-associated
VAR_046721 commonName VAR_046721
VAR_046721 disease not phenotype-associated
VAR_046722 commonName VAR_046722
VAR_046722 disease not phenotype-associated
VAR_046723 commonName VAR_046723
VAR_046723 disease not phenotype-associated
VAR_046724 commonName VAR_046724
VAR_046724 disease not phenotype-associated
VAR_046725 commonName VAR_046725
VAR_046725 disease not phenotype-associated
VAR_046726 commonName VAR_046726
VAR_046726 disease not phenotype-associated
VAR_046727 commonName VAR_046727
VAR_046727 disease not phenotype-associated
VAR_046728 commonName VAR_046728
VAR_046728 disease not phenotype-associated
VAR_046729 commonName VAR_046729
VAR_046729 disease not phenotype-associated
VAR_046730 commonName VAR_046730
VAR_046730 disease not phenotype-associated
VAR_046731 commonName VAR_046731
VAR_046731 disease not phenotype-associated
VAR_046732 commonName VAR_046732
VAR_046732 disease not phenotype-associated
VAR_046733 commonName VAR_046733
VAR_046733 disease not phenotype-associated
VAR_046734 commonName VAR_046734
VAR_046734 disease not phenotype-associated
VAR_046735 commonName VAR_046735
VAR_046735 disease phenotype-associated
VAR_046735 phenoCommon Retinitis pigmentosa type 18 (RP18) [MIM:601414]
VAR_046736 commonName VAR_046736
VAR_046736 disease not phenotype-associated
VAR_046737 commonName VAR_046737
VAR_046737 disease not phenotype-associated
VAR_046738 commonName VAR_046738
VAR_046738 disease not phenotype-associated
VAR_046739 commonName VAR_046739
VAR_046739 disease not phenotype-associated
VAR_046740 commonName VAR_046740
VAR_046741 commonName VAR_046741
VAR_046741 disease not phenotype-associated
VAR_046742 commonName VAR_046742
VAR_046742 disease not phenotype-associated
VAR_046743 commonName VAR_046743
VAR_046743 disease phenotype-associated
VAR_046743 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600]
VAR_046744 commonName VAR_046744
VAR_046744 disease phenotype-associated
VAR_046744 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_046745 commonName VAR_046745
VAR_046745 disease phenotype-associated
VAR_046745 phenoCommon Microcephaly primary type 1 (MCPH1) [MIM:251200]
VAR_046746 commonName VAR_046746
VAR_046746 disease not phenotype-associated
VAR_046747 commonName VAR_046747
VAR_046747 disease not phenotype-associated
VAR_046748 commonName VAR_046748
VAR_046748 disease not phenotype-associated
VAR_046749 commonName VAR_046749
VAR_046749 disease not phenotype-associated
VAR_046750 commonName VAR_046750
VAR_046750 disease not phenotype-associated
VAR_046751 commonName VAR_046751
VAR_046751 disease not phenotype-associated
VAR_046752 commonName VAR_046752
VAR_046752 disease not phenotype-associated
VAR_046753 commonName VAR_046753
VAR_046753 disease not phenotype-associated
VAR_046754 commonName VAR_046754
VAR_046754 disease not phenotype-associated
VAR_046755 commonName VAR_046755
VAR_046755 disease not phenotype-associated
VAR_046756 commonName VAR_046756
VAR_046756 disease not phenotype-associated
VAR_046757 commonName VAR_046757
VAR_046757 disease not phenotype-associated
VAR_046758 commonName VAR_046758
VAR_046758 disease not phenotype-associated
VAR_046759 commonName VAR_046759
VAR_046759 disease not phenotype-associated
VAR_046760 commonName VAR_046760
VAR_046760 disease not phenotype-associated
VAR_046761 commonName VAR_046761
VAR_046761 disease not phenotype-associated
VAR_046762 commonName VAR_046762
VAR_046762 disease not phenotype-associated
VAR_046763 commonName VAR_046763
VAR_046763 disease not phenotype-associated
VAR_046764 comment A colorectal adenocarcinoma sample
VAR_046764 commonName VAR_046764
VAR_046767 commonName VAR_046767
VAR_046767 disease phenotype-associated
VAR_046767 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_046768 commonName VAR_046768
VAR_046768 disease phenotype-associated
VAR_046768 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_046769 commonName VAR_046769
VAR_046769 disease phenotype-associated
VAR_046769 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
VAR_046770 comment A lung large cell carcinoma sample
VAR_046770 commonName VAR_046770
VAR_046771 commonName VAR_046771
VAR_046771 disease not phenotype-associated
VAR_046772 commonName VAR_046772
VAR_046772 disease not phenotype-associated
VAR_046773 commonName VAR_046773
VAR_046773 disease not phenotype-associated
VAR_046775 commonName VAR_046775
VAR_046775 disease phenotype-associated
VAR_046775 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_046776 commonName VAR_046776
VAR_046776 disease not phenotype-associated
VAR_046778 commonName VAR_046778
VAR_046778 disease not phenotype-associated
VAR_046779 commonName VAR_046779
VAR_046779 disease not phenotype-associated
VAR_046780 commonName VAR_046780
VAR_046781 commonName VAR_046781
VAR_046781 disease not phenotype-associated
VAR_046782 commonName VAR_046782
VAR_046782 disease not phenotype-associated
VAR_046783 commonName VAR_046783
VAR_046783 disease not phenotype-associated
VAR_046784 commonName VAR_046784
VAR_046784 disease not phenotype-associated
VAR_046785 commonName VAR_046785
VAR_046785 disease not phenotype-associated
VAR_046786 commonName VAR_046786
VAR_046786 disease not phenotype-associated
VAR_046788 commonName VAR_046788
VAR_046788 disease phenotype-associated
VAR_046788 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]
VAR_046789 commonName VAR_046789
VAR_046789 disease phenotype-associated
VAR_046789 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]
VAR_046790 commonName VAR_046790
VAR_046790 disease not phenotype-associated
VAR_046791 commonName VAR_046791
VAR_046791 disease phenotype-associated
VAR_046791 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]
VAR_046792 commonName VAR_046792
VAR_046792 disease phenotype-associated
VAR_046792 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]
VAR_046793 commonName VAR_046793
VAR_046793 disease phenotype-associated
VAR_046793 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]
VAR_046796 commonName VAR_046796
VAR_046796 disease not phenotype-associated
VAR_046797 commonName VAR_046797
VAR_046797 disease not phenotype-associated
VAR_046798 commonName VAR_046798
VAR_046798 disease not phenotype-associated
VAR_046799 commonName VAR_046799
VAR_046799 disease not phenotype-associated
VAR_046800 commonName VAR_046800
VAR_046800 disease not phenotype-associated
VAR_046801 commonName VAR_046801
VAR_046801 disease not phenotype-associated
VAR_046802 commonName VAR_046802
VAR_046802 disease phenotype-associated
VAR_046802 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046803 commonName VAR_046803
VAR_046803 disease phenotype-associated
VAR_046803 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046804 commonName VAR_046804
VAR_046804 disease phenotype-associated
VAR_046804 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046805 commonName VAR_046805
VAR_046805 disease phenotype-associated
VAR_046805 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046806 commonName VAR_046806
VAR_046806 disease phenotype-associated
VAR_046806 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046807 commonName VAR_046807
VAR_046807 disease phenotype-associated
VAR_046807 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046808 commonName VAR_046808
VAR_046808 disease phenotype-associated
VAR_046808 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046809 commonName VAR_046809
VAR_046809 disease phenotype-associated
VAR_046809 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046810 commonName VAR_046810
VAR_046810 disease phenotype-associated
VAR_046810 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046811 commonName VAR_046811
VAR_046811 disease not phenotype-associated
VAR_046812 commonName VAR_046812
VAR_046812 disease phenotype-associated
VAR_046812 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046813 commonName VAR_046813
VAR_046813 disease phenotype-associated
VAR_046813 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046814 commonName VAR_046814
VAR_046814 disease phenotype-associated
VAR_046814 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046815 commonName VAR_046815
VAR_046815 disease phenotype-associated
VAR_046815 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046816 commonName VAR_046816
VAR_046816 disease phenotype-associated
VAR_046816 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046817 commonName VAR_046817
VAR_046817 disease phenotype-associated
VAR_046817 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046818 commonName VAR_046818
VAR_046818 disease not phenotype-associated
VAR_046819 commonName VAR_046819
VAR_046819 disease phenotype-associated
VAR_046819 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046820 commonName VAR_046820
VAR_046820 disease phenotype-associated
VAR_046820 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046821 commonName VAR_046821
VAR_046821 disease phenotype-associated
VAR_046821 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046822 commonName VAR_046822
VAR_046822 disease phenotype-associated
VAR_046822 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046823 commonName VAR_046823
VAR_046823 disease phenotype-associated
VAR_046823 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046824 commonName VAR_046824
VAR_046824 disease phenotype-associated
VAR_046824 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046825 commonName VAR_046825
VAR_046825 disease phenotype-associated
VAR_046825 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046826 commonName VAR_046826
VAR_046826 disease phenotype-associated
VAR_046826 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046827 commonName VAR_046827
VAR_046827 disease phenotype-associated
VAR_046827 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046828 commonName VAR_046828
VAR_046828 disease not phenotype-associated
VAR_046829 commonName VAR_046829
VAR_046829 disease phenotype-associated
VAR_046829 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046830 commonName VAR_046830
VAR_046830 disease phenotype-associated
VAR_046830 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046831 commonName VAR_046831
VAR_046831 disease phenotype-associated
VAR_046831 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046832 commonName VAR_046832
VAR_046832 disease phenotype-associated
VAR_046832 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046833 commonName VAR_046833
VAR_046833 disease phenotype-associated
VAR_046833 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046834 commonName VAR_046834
VAR_046834 disease phenotype-associated
VAR_046834 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046835 commonName VAR_046835
VAR_046835 disease phenotype-associated
VAR_046835 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046836 commonName VAR_046836
VAR_046836 disease phenotype-associated
VAR_046836 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046837 commonName VAR_046837
VAR_046837 disease phenotype-associated
VAR_046837 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046838 commonName VAR_046838
VAR_046838 disease phenotype-associated
VAR_046838 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046839 commonName VAR_046839
VAR_046839 disease phenotype-associated
VAR_046839 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046840 commonName VAR_046840
VAR_046840 disease phenotype-associated
VAR_046840 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046841 commonName VAR_046841
VAR_046841 disease phenotype-associated
VAR_046841 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046842 commonName VAR_046842
VAR_046842 disease phenotype-associated
VAR_046842 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046843 commonName VAR_046843
VAR_046843 disease phenotype-associated
VAR_046843 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046844 commonName VAR_046844
VAR_046844 disease phenotype-associated
VAR_046844 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046845 commonName VAR_046845
VAR_046845 disease phenotype-associated
VAR_046845 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046846 commonName VAR_046846
VAR_046846 disease phenotype-associated
VAR_046846 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046847 commonName VAR_046847
VAR_046847 disease phenotype-associated
VAR_046847 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046848 commonName VAR_046848
VAR_046848 disease phenotype-associated
VAR_046848 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046849 commonName VAR_046849
VAR_046849 disease phenotype-associated
VAR_046849 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046850 commonName VAR_046850
VAR_046850 disease phenotype-associated
VAR_046850 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046851 commonName VAR_046851
VAR_046851 disease phenotype-associated
VAR_046851 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046852 commonName VAR_046852
VAR_046852 disease phenotype-associated
VAR_046852 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046853 commonName VAR_046853
VAR_046853 disease phenotype-associated
VAR_046853 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046854 commonName VAR_046854
VAR_046854 disease phenotype-associated
VAR_046854 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046855 commonName VAR_046855
VAR_046855 disease phenotype-associated
VAR_046855 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046856 commonName VAR_046856
VAR_046856 disease not phenotype-associated
VAR_046857 commonName VAR_046857
VAR_046857 disease phenotype-associated
VAR_046857 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046858 commonName VAR_046858
VAR_046858 disease phenotype-associated
VAR_046858 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046859 commonName VAR_046859
VAR_046859 disease phenotype-associated
VAR_046859 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046860 commonName VAR_046860
VAR_046860 disease phenotype-associated
VAR_046860 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046861 commonName VAR_046861
VAR_046861 disease not phenotype-associated
VAR_046862 commonName VAR_046862
VAR_046862 disease phenotype-associated
VAR_046862 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046863 commonName VAR_046863
VAR_046863 disease phenotype-associated
VAR_046863 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046864 commonName VAR_046864
VAR_046864 disease phenotype-associated
VAR_046864 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046865 commonName VAR_046865
VAR_046865 disease phenotype-associated
VAR_046865 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046866 commonName VAR_046866
VAR_046866 disease phenotype-associated
VAR_046866 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046867 commonName VAR_046867
VAR_046867 disease phenotype-associated
VAR_046867 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046868 commonName VAR_046868
VAR_046868 disease phenotype-associated
VAR_046868 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046869 commonName VAR_046869
VAR_046869 disease phenotype-associated
VAR_046869 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046870 commonName VAR_046870
VAR_046870 disease phenotype-associated
VAR_046870 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
VAR_046892 commonName VAR_046892
VAR_046893 commonName VAR_046893
VAR_046893 disease phenotype-associated
VAR_046893 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_046894 commonName VAR_046894
VAR_046894 disease phenotype-associated
VAR_046894 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046895 commonName VAR_046895
VAR_046895 disease phenotype-associated
VAR_046895 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046896 commonName VAR_046896
VAR_046896 disease phenotype-associated
VAR_046896 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046897 commonName VAR_046897
VAR_046897 disease phenotype-associated
VAR_046897 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046898 commonName VAR_046898
VAR_046898 disease phenotype-associated
VAR_046898 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046899 commonName VAR_046899
VAR_046899 disease phenotype-associated
VAR_046899 phenoCommon Carney complex type 1 (CNC1) [MIM:160980]
VAR_046900 commonName VAR_046900
VAR_046900 disease phenotype-associated
VAR_046900 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_046901 commonName VAR_046901
VAR_046901 disease phenotype-associated
VAR_046901 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_046902 commonName VAR_046902
VAR_046903 commonName VAR_046903
VAR_046903 disease phenotype-associated
VAR_046903 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]
VAR_046903 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094]
VAR_046904 commonName VAR_046904
VAR_046904 disease phenotype-associated
VAR_046904 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]
VAR_046906 commonName VAR_046906
VAR_046906 disease phenotype-associated
VAR_046906 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_046907 commonName VAR_046907
VAR_046907 disease phenotype-associated
VAR_046907 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_046908 commonName VAR_046908
VAR_046908 disease phenotype-associated
VAR_046908 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_046909 commonName VAR_046909
VAR_046909 disease phenotype-associated
VAR_046909 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_046910 commonName VAR_046910
VAR_046910 disease phenotype-associated
VAR_046910 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]
VAR_046911 commonName VAR_046911
VAR_046911 disease phenotype-associated
VAR_046911 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]
VAR_046921 commonName VAR_046921
VAR_046922 commonName VAR_046922
VAR_046922 disease not phenotype-associated
VAR_046923 commonName VAR_046923
VAR_046923 disease phenotype-associated
VAR_046923 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046924 commonName VAR_046924
VAR_046924 disease phenotype-associated
VAR_046924 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046925 commonName VAR_046925
VAR_046925 disease phenotype-associated
VAR_046925 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046926 commonName VAR_046926
VAR_046926 disease phenotype-associated
VAR_046926 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046927 commonName VAR_046927
VAR_046927 disease phenotype-associated
VAR_046927 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046928 commonName VAR_046928
VAR_046928 disease phenotype-associated
VAR_046928 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046929 commonName VAR_046929
VAR_046929 disease phenotype-associated
VAR_046929 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046932 commonName VAR_046932
VAR_046932 disease phenotype-associated
VAR_046932 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046933 commonName VAR_046933
VAR_046933 disease phenotype-associated
VAR_046933 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046934 commonName VAR_046934
VAR_046934 disease phenotype-associated
VAR_046934 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046935 commonName VAR_046935
VAR_046935 disease phenotype-associated
VAR_046935 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046936 commonName VAR_046936
VAR_046936 disease phenotype-associated
VAR_046936 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_046939 commonName VAR_046939
VAR_046939 disease not phenotype-associated
VAR_046940 commonName VAR_046940
VAR_046940 disease not phenotype-associated
VAR_046941 commonName VAR_046941
VAR_046941 disease not phenotype-associated
VAR_046942 commonName VAR_046942
VAR_046942 disease not phenotype-associated
VAR_046943 commonName VAR_046943
VAR_046943 disease not phenotype-associated
VAR_046944 commonName VAR_046944
VAR_046944 disease not phenotype-associated
VAR_046945 commonName VAR_046945
VAR_046945 disease not phenotype-associated
VAR_046946 commonName VAR_046946
VAR_046946 disease not phenotype-associated
VAR_046947 commonName VAR_046947
VAR_046947 disease not phenotype-associated
VAR_046948 commonName VAR_046948
VAR_046948 disease not phenotype-associated
VAR_046949 commonName VAR_046949
VAR_046949 disease not phenotype-associated
VAR_046950 commonName VAR_046950
VAR_046950 disease not phenotype-associated
VAR_046951 commonName VAR_046951
VAR_046951 disease not phenotype-associated
VAR_046952 commonName VAR_046952
VAR_046952 disease not phenotype-associated
VAR_046953 commonName VAR_046953
VAR_046953 disease not phenotype-associated
VAR_046954 commonName VAR_046954
VAR_046955 commonName VAR_046955
VAR_046955 disease not phenotype-associated
VAR_046956 commonName VAR_046956
VAR_046956 disease not phenotype-associated
VAR_046958 commonName VAR_046958
VAR_046958 disease not phenotype-associated
VAR_046959 commonName VAR_046959
VAR_046959 disease not phenotype-associated
VAR_046960 commonName VAR_046960
VAR_046960 disease not phenotype-associated
VAR_046961 commonName VAR_046961
VAR_046961 disease not phenotype-associated
VAR_046962 commonName VAR_046962
VAR_046962 disease not phenotype-associated
VAR_046963 commonName VAR_046963
VAR_046963 disease not phenotype-associated
VAR_046966 commonName VAR_046966
VAR_046966 disease not phenotype-associated
VAR_046967 commonName VAR_046967
VAR_046967 disease not phenotype-associated
VAR_046969 commonName VAR_046969
VAR_046969 disease not phenotype-associated
VAR_046970 commonName VAR_046970
VAR_046970 disease not phenotype-associated
VAR_046971 commonName VAR_046971
VAR_046971 disease not phenotype-associated
VAR_046972 commonName VAR_046972
VAR_046972 disease not phenotype-associated
VAR_046973 commonName VAR_046973
VAR_046973 disease not phenotype-associated
VAR_046974 commonName VAR_046974
VAR_046974 disease not phenotype-associated
VAR_046975 commonName VAR_046975
VAR_046975 disease not phenotype-associated
VAR_046976 commonName VAR_046976
VAR_046976 disease not phenotype-associated
VAR_046977 commonName VAR_046977
VAR_046977 disease not phenotype-associated
VAR_046978 commonName VAR_046978
VAR_046978 disease not phenotype-associated
VAR_046979 commonName VAR_046979
VAR_046979 disease not phenotype-associated
VAR_046980 commonName VAR_046980
VAR_046980 disease not phenotype-associated
VAR_046981 commonName VAR_046981
VAR_046981 disease not phenotype-associated
VAR_046982 commonName VAR_046982
VAR_046982 disease not phenotype-associated
VAR_046983 commonName VAR_046983
VAR_046983 disease not phenotype-associated
VAR_046984 commonName VAR_046984
VAR_046984 disease not phenotype-associated
VAR_046985 commonName VAR_046985
VAR_046985 disease not phenotype-associated
VAR_046986 commonName VAR_046986
VAR_046986 disease not phenotype-associated
VAR_046987 commonName VAR_046987
VAR_046987 disease not phenotype-associated
VAR_046988 commonName VAR_046988
VAR_046988 disease not phenotype-associated
VAR_046989 commonName VAR_046989
VAR_046989 disease not phenotype-associated
VAR_046990 commonName VAR_046990
VAR_046990 disease not phenotype-associated
VAR_046993 commonName VAR_046993
VAR_046993 disease not phenotype-associated
VAR_046994 commonName VAR_046994
VAR_046994 disease not phenotype-associated
VAR_046995 commonName VAR_046995
VAR_046995 disease not phenotype-associated
VAR_046996 commonName VAR_046996
VAR_046996 disease not phenotype-associated
VAR_046997 commonName VAR_046997
VAR_046997 disease not phenotype-associated
VAR_046998 commonName VAR_046998
VAR_046998 disease not phenotype-associated
VAR_046999 commonName VAR_046999
VAR_046999 disease not phenotype-associated
VAR_047000 commonName VAR_047000
VAR_047000 disease not phenotype-associated
VAR_047001 commonName VAR_047001
VAR_047001 disease not phenotype-associated
VAR_047002 commonName VAR_047002
VAR_047002 disease not phenotype-associated
VAR_047003 commonName VAR_047003
VAR_047003 disease not phenotype-associated
VAR_047004 commonName VAR_047004
VAR_047004 disease not phenotype-associated
VAR_047005 commonName VAR_047005
VAR_047005 disease not phenotype-associated
VAR_047006 commonName VAR_047006
VAR_047006 disease not phenotype-associated
VAR_047007 commonName VAR_047007
VAR_047007 disease not phenotype-associated
VAR_047008 commonName VAR_047008
VAR_047008 disease not phenotype-associated
VAR_047009 commonName VAR_047009
VAR_047009 disease not phenotype-associated
VAR_047010 commonName VAR_047010
VAR_047010 disease not phenotype-associated
VAR_047011 commonName VAR_047011
VAR_047011 disease not phenotype-associated
VAR_047012 commonName VAR_047012
VAR_047012 disease not phenotype-associated
VAR_047013 commonName VAR_047013
VAR_047013 disease not phenotype-associated
VAR_047015 commonName VAR_047015
VAR_047015 disease not phenotype-associated
VAR_047016 commonName VAR_047016
VAR_047016 disease not phenotype-associated
VAR_047017 commonName VAR_047017
VAR_047017 disease not phenotype-associated
VAR_047018 commonName VAR_047018
VAR_047018 disease not phenotype-associated
VAR_047019 commonName VAR_047019
VAR_047019 disease not phenotype-associated
VAR_047023 commonName VAR_047023
VAR_047023 disease not phenotype-associated
VAR_047024 commonName VAR_047024
VAR_047024 disease not phenotype-associated
VAR_047025 commonName VAR_047025
VAR_047025 disease not phenotype-associated
VAR_047026 commonName VAR_047026
VAR_047026 disease not phenotype-associated
VAR_047027 commonName VAR_047027
VAR_047027 disease not phenotype-associated
VAR_047028 commonName VAR_047028
VAR_047028 disease not phenotype-associated
VAR_047029 commonName VAR_047029
VAR_047029 disease not phenotype-associated
VAR_047030 commonName VAR_047030
VAR_047030 disease not phenotype-associated
VAR_047031 commonName VAR_047031
VAR_047031 disease not phenotype-associated
VAR_047032 commonName VAR_047032
VAR_047032 disease not phenotype-associated
VAR_047033 commonName VAR_047033
VAR_047033 disease not phenotype-associated
VAR_047034 commonName VAR_047034
VAR_047034 disease not phenotype-associated
VAR_047035 commonName VAR_047035
VAR_047035 disease not phenotype-associated
VAR_047036 commonName VAR_047036
VAR_047036 disease not phenotype-associated
VAR_047037 commonName VAR_047037
VAR_047037 disease not phenotype-associated
VAR_047038 commonName VAR_047038
VAR_047038 disease not phenotype-associated
VAR_047039 commonName VAR_047039
VAR_047039 disease not phenotype-associated
VAR_047040 commonName VAR_047040
VAR_047040 disease not phenotype-associated
VAR_047041 commonName VAR_047041
VAR_047041 disease not phenotype-associated
VAR_047042 commonName VAR_047042
VAR_047042 disease not phenotype-associated
VAR_047043 commonName VAR_047043
VAR_047043 disease not phenotype-associated
VAR_047044 commonName VAR_047044
VAR_047044 disease not phenotype-associated
VAR_047045 commonName VAR_047045
VAR_047045 disease not phenotype-associated
VAR_047047 commonName VAR_047047
VAR_047047 disease not phenotype-associated
VAR_047048 commonName VAR_047048
VAR_047048 disease not phenotype-associated
VAR_047050 commonName VAR_047050
VAR_047050 disease not phenotype-associated
VAR_047051 commonName VAR_047051
VAR_047051 disease not phenotype-associated
VAR_047052 commonName VAR_047052
VAR_047052 disease not phenotype-associated
VAR_047053 commonName VAR_047053
VAR_047053 disease not phenotype-associated
VAR_047054 commonName VAR_047054
VAR_047054 disease not phenotype-associated
VAR_047055 commonName VAR_047055
VAR_047055 disease not phenotype-associated
VAR_047056 commonName VAR_047056
VAR_047056 disease not phenotype-associated
VAR_047057 commonName VAR_047057
VAR_047057 disease not phenotype-associated
VAR_047058 commonName VAR_047058
VAR_047058 disease not phenotype-associated
VAR_047059 commonName VAR_047059
VAR_047059 disease not phenotype-associated
VAR_047060 commonName VAR_047060
VAR_047060 disease not phenotype-associated
VAR_047061 commonName VAR_047061
VAR_047061 disease not phenotype-associated
VAR_047062 commonName VAR_047062
VAR_047062 disease not phenotype-associated
VAR_047063 commonName VAR_047063
VAR_047063 disease not phenotype-associated
VAR_047064 commonName VAR_047064
VAR_047064 disease not phenotype-associated
VAR_047065 commonName VAR_047065
VAR_047065 disease not phenotype-associated
VAR_047066 commonName VAR_047066
VAR_047066 disease not phenotype-associated
VAR_047067 commonName VAR_047067
VAR_047067 disease not phenotype-associated
VAR_047068 commonName VAR_047068
VAR_047068 disease not phenotype-associated
VAR_047072 commonName VAR_047072
VAR_047072 disease not phenotype-associated
VAR_047073 commonName VAR_047073
VAR_047073 disease not phenotype-associated
VAR_047074 commonName VAR_047074
VAR_047074 disease not phenotype-associated
VAR_047075 commonName VAR_047075
VAR_047075 disease not phenotype-associated
VAR_047076 commonName VAR_047076
VAR_047076 disease not phenotype-associated
VAR_047077 commonName VAR_047077
VAR_047077 disease not phenotype-associated
VAR_047078 commonName VAR_047078
VAR_047078 disease not phenotype-associated
VAR_047079 commonName VAR_047079
VAR_047079 disease not phenotype-associated
VAR_047080 commonName VAR_047080
VAR_047080 disease not phenotype-associated
VAR_047081 commonName VAR_047081
VAR_047081 disease not phenotype-associated
VAR_047082 commonName VAR_047082
VAR_047082 disease not phenotype-associated
VAR_047083 commonName VAR_047083
VAR_047083 disease not phenotype-associated
VAR_047084 commonName VAR_047084
VAR_047084 disease not phenotype-associated
VAR_047085 commonName VAR_047085
VAR_047085 disease not phenotype-associated
VAR_047086 commonName VAR_047086
VAR_047086 disease not phenotype-associated
VAR_047087 commonName VAR_047087
VAR_047087 disease not phenotype-associated
VAR_047091 commonName VAR_047091
VAR_047091 disease not phenotype-associated
VAR_047092 commonName VAR_047092
VAR_047092 disease not phenotype-associated
VAR_047093 commonName VAR_047093
VAR_047093 disease not phenotype-associated
VAR_047094 commonName VAR_047094
VAR_047094 disease not phenotype-associated
VAR_047095 commonName VAR_047095
VAR_047095 disease not phenotype-associated
VAR_047096 commonName VAR_047096
VAR_047096 disease not phenotype-associated
VAR_047097 commonName VAR_047097
VAR_047097 disease not phenotype-associated
VAR_047098 commonName VAR_047098
VAR_047098 disease not phenotype-associated
VAR_047099 commonName VAR_047099
VAR_047099 disease not phenotype-associated
VAR_047100 commonName VAR_047100
VAR_047100 disease not phenotype-associated
VAR_047102 commonName VAR_047102
VAR_047102 disease not phenotype-associated
VAR_047103 commonName VAR_047103
VAR_047103 disease not phenotype-associated
VAR_047104 commonName VAR_047104
VAR_047104 disease not phenotype-associated
VAR_047105 commonName VAR_047105
VAR_047105 disease not phenotype-associated
VAR_047106 commonName VAR_047106
VAR_047106 disease not phenotype-associated
VAR_047107 commonName VAR_047107
VAR_047107 disease not phenotype-associated
VAR_047108 commonName VAR_047108
VAR_047108 disease not phenotype-associated
VAR_047110 commonName VAR_047110
VAR_047110 disease not phenotype-associated
VAR_047111 commonName VAR_047111
VAR_047111 disease not phenotype-associated
VAR_047112 commonName VAR_047112
VAR_047112 disease phenotype-associated
VAR_047112 phenoCommon Total anomalous pulmonary venous return (TAPVR) [MIM:106700]
VAR_047113 commonName VAR_047113
VAR_047113 disease not phenotype-associated
VAR_047114 commonName VAR_047114
VAR_047114 disease not phenotype-associated
VAR_047115 commonName VAR_047115
VAR_047115 disease not phenotype-associated
VAR_047116 commonName VAR_047116
VAR_047116 disease not phenotype-associated
VAR_047117 commonName VAR_047117
VAR_047117 disease not phenotype-associated
VAR_047118 commonName VAR_047118
VAR_047118 disease not phenotype-associated
VAR_047119 commonName VAR_047119
VAR_047119 disease not phenotype-associated
VAR_047120 commonName VAR_047120
VAR_047120 disease not phenotype-associated
VAR_047121 commonName VAR_047121
VAR_047121 disease not phenotype-associated
VAR_047126 commonName VAR_047126
VAR_047126 disease not phenotype-associated
VAR_047127 commonName VAR_047127
VAR_047127 disease not phenotype-associated
VAR_047128 commonName VAR_047128
VAR_047128 disease not phenotype-associated
VAR_047129 commonName VAR_047129
VAR_047129 disease not phenotype-associated
VAR_047130 commonName VAR_047130
VAR_047130 disease not phenotype-associated
VAR_047131 commonName VAR_047131
VAR_047131 disease not phenotype-associated
VAR_047132 commonName VAR_047132
VAR_047132 disease not phenotype-associated
VAR_047133 commonName VAR_047133
VAR_047133 disease not phenotype-associated
VAR_047134 commonName VAR_047134
VAR_047134 disease not phenotype-associated
VAR_047135 commonName VAR_047135
VAR_047135 disease not phenotype-associated
VAR_047136 commonName VAR_047136
VAR_047136 disease not phenotype-associated
VAR_047137 commonName VAR_047137
VAR_047137 disease not phenotype-associated
VAR_047138 commonName VAR_047138
VAR_047138 disease not phenotype-associated
VAR_047139 commonName VAR_047139
VAR_047139 disease not phenotype-associated
VAR_047140 commonName VAR_047140
VAR_047140 disease not phenotype-associated
VAR_047141 commonName VAR_047141
VAR_047141 disease not phenotype-associated
VAR_047142 commonName VAR_047142
VAR_047142 disease not phenotype-associated
VAR_047143 commonName VAR_047143
VAR_047143 disease not phenotype-associated
VAR_047145 commonName VAR_047145
VAR_047145 disease not phenotype-associated
VAR_047146 commonName VAR_047146
VAR_047146 disease not phenotype-associated
VAR_047147 commonName VAR_047147
VAR_047147 disease not phenotype-associated
VAR_047148 commonName VAR_047148
VAR_047148 disease not phenotype-associated
VAR_047150 commonName VAR_047150
VAR_047150 disease not phenotype-associated
VAR_047151 commonName VAR_047151
VAR_047151 disease not phenotype-associated
VAR_047152 commonName VAR_047152
VAR_047152 disease not phenotype-associated
VAR_047154 commonName VAR_047154
VAR_047154 disease not phenotype-associated
VAR_047155 commonName VAR_047155
VAR_047155 disease not phenotype-associated
VAR_047156 commonName VAR_047156
VAR_047156 disease not phenotype-associated
VAR_047157 commonName VAR_047157
VAR_047157 disease not phenotype-associated
VAR_047169 comment Sporadic cancers
VAR_047169 commonName VAR_047169
VAR_047172 comment A sporadic cancer
VAR_047172 commonName VAR_047172
VAR_047175 comment Sporadic cancers
VAR_047175 commonName VAR_047175
VAR_047177 comment Sporadic cancers
VAR_047177 commonName VAR_047177
VAR_047178 commonName VAR_047178
VAR_047178 disease not phenotype-associated
VAR_047179 comment A sporadic cancer
VAR_047179 commonName VAR_047179
VAR_047180 comment Sporadic cancers
VAR_047180 commonName VAR_047180
VAR_047181 comment Sporadic cancers
VAR_047181 commonName VAR_047181
VAR_047182 comment An adrenocortical carcinoma with no family history
VAR_047182 commonName VAR_047182
VAR_047183 commonName VAR_047183
VAR_047183 disease phenotype-associated
VAR_047183 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_047186 comment Sporadic cancers
VAR_047186 commonName VAR_047186
VAR_047189 comment Sporadic cancers
VAR_047189 commonName VAR_047189
VAR_047192 comment Sporadic cancers
VAR_047192 commonName VAR_047192
VAR_047193 comment Sporadic cancers
VAR_047193 commonName VAR_047193
VAR_047194 comment A sporadic cancer
VAR_047194 commonName VAR_047194
VAR_047196 comment Sporadic cancers
VAR_047196 commonName VAR_047196
VAR_047197 comment Sporadic cancers
VAR_047197 commonName VAR_047197
VAR_047198 comment A sporadic cancer
VAR_047198 commonName VAR_047198
VAR_047199 comment An osteosarcoma with no family history
VAR_047199 commonName VAR_047199
VAR_047200 comment Sporadic cancers
VAR_047200 commonName VAR_047200
VAR_047201 comment Sporadic cancers
VAR_047201 commonName VAR_047201
VAR_047202 commonName VAR_047202
VAR_047202 disease phenotype-associated
VAR_047202 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623]
VAR_047204 comment A sporadic cancer
VAR_047204 commonName VAR_047204
VAR_047205 comment Sporadic cancers
VAR_047205 commonName VAR_047205
VAR_047206 comment Sporadic cancers
VAR_047206 commonName VAR_047206
VAR_047207 comment Sporadic cancers
VAR_047207 commonName VAR_047207
VAR_047208 comment A sporadic cancer
VAR_047208 commonName VAR_047208
VAR_047209 comment A sporadic cancer
VAR_047209 commonName VAR_047209
VAR_047210 comment A sporadic cancer
VAR_047210 commonName VAR_047210
VAR_047211 comment A sporadic cancer
VAR_047211 commonName VAR_047211
VAR_047212 comment A sporadic cancer
VAR_047212 commonName VAR_047212
VAR_047213 comment Sporadic cancers
VAR_047213 commonName VAR_047213
VAR_047216 commonName VAR_047216
VAR_047216 disease not phenotype-associated
VAR_047217 commonName VAR_047217
VAR_047217 disease not phenotype-associated
VAR_047218 commonName VAR_047218
VAR_047218 disease not phenotype-associated
VAR_047219 commonName VAR_047219
VAR_047219 disease not phenotype-associated
VAR_047220 commonName VAR_047220
VAR_047220 disease not phenotype-associated
VAR_047221 commonName VAR_047221
VAR_047221 disease not phenotype-associated
VAR_047222 commonName VAR_047222
VAR_047222 disease not phenotype-associated
VAR_047223 commonName VAR_047223
VAR_047223 disease not phenotype-associated
VAR_047224 commonName VAR_047224
VAR_047224 disease not phenotype-associated
VAR_047225 commonName VAR_047225
VAR_047225 disease not phenotype-associated
VAR_047226 commonName VAR_047226
VAR_047226 disease not phenotype-associated
VAR_047227 commonName VAR_047227
VAR_047227 disease not phenotype-associated
VAR_047228 commonName VAR_047228
VAR_047228 disease not phenotype-associated
VAR_047229 commonName VAR_047229
VAR_047229 disease not phenotype-associated
VAR_047230 commonName VAR_047230
VAR_047230 disease not phenotype-associated
VAR_047231 commonName VAR_047231
VAR_047231 disease not phenotype-associated
VAR_047232 commonName VAR_047232
VAR_047232 disease not phenotype-associated
VAR_047233 commonName VAR_047233
VAR_047233 disease not phenotype-associated
VAR_047234 commonName VAR_047234
VAR_047234 disease not phenotype-associated
VAR_047235 commonName VAR_047235
VAR_047235 disease not phenotype-associated
VAR_047236 commonName VAR_047236
VAR_047236 disease not phenotype-associated
VAR_047237 commonName VAR_047237
VAR_047237 disease not phenotype-associated
VAR_047238 commonName VAR_047238
VAR_047238 disease not phenotype-associated
VAR_047239 commonName VAR_047239
VAR_047239 disease not phenotype-associated
VAR_047240 commonName VAR_047240
VAR_047240 disease not phenotype-associated
VAR_047241 commonName VAR_047241
VAR_047241 disease not phenotype-associated
VAR_047242 commonName VAR_047242
VAR_047242 disease not phenotype-associated
VAR_047243 commonName VAR_047243
VAR_047243 disease not phenotype-associated
VAR_047244 commonName VAR_047244
VAR_047244 disease not phenotype-associated
VAR_047245 commonName VAR_047245
VAR_047245 disease not phenotype-associated
VAR_047246 commonName VAR_047246
VAR_047246 disease not phenotype-associated
VAR_047247 commonName VAR_047247
VAR_047247 disease not phenotype-associated
VAR_047248 commonName VAR_047248
VAR_047248 disease not phenotype-associated
VAR_047249 commonName VAR_047249
VAR_047249 disease not phenotype-associated
VAR_047250 commonName VAR_047250
VAR_047250 disease not phenotype-associated
VAR_047251 commonName VAR_047251
VAR_047251 disease not phenotype-associated
VAR_047252 commonName VAR_047252
VAR_047252 disease not phenotype-associated
VAR_047253 commonName VAR_047253
VAR_047253 disease not phenotype-associated
VAR_047254 commonName VAR_047254
VAR_047254 disease not phenotype-associated
VAR_047255 commonName VAR_047255
VAR_047255 disease not phenotype-associated
VAR_047258 commonName VAR_047258
VAR_047258 disease not phenotype-associated
VAR_047259 commonName VAR_047259
VAR_047259 disease not phenotype-associated
VAR_047260 commonName VAR_047260
VAR_047260 disease not phenotype-associated
VAR_047261 commonName VAR_047261
VAR_047261 disease not phenotype-associated
VAR_047263 commonName VAR_047263
VAR_047263 disease not phenotype-associated
VAR_047264 commonName VAR_047264
VAR_047264 disease phenotype-associated
VAR_047264 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_047266 commonName VAR_047266
VAR_047266 disease phenotype-associated
VAR_047266 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_047267 commonName VAR_047267
VAR_047267 disease phenotype-associated
VAR_047267 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_047268 commonName VAR_047268
VAR_047268 disease phenotype-associated
VAR_047268 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_047269 commonName VAR_047269
VAR_047269 disease phenotype-associated
VAR_047269 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400]
VAR_047277 commonName VAR_047277
VAR_047277 disease not phenotype-associated
VAR_047278 commonName VAR_047278
VAR_047278 disease not phenotype-associated
VAR_047279 commonName VAR_047279
VAR_047279 disease not phenotype-associated
VAR_047280 commonName VAR_047280
VAR_047280 disease not phenotype-associated
VAR_047281 commonName VAR_047281
VAR_047281 disease not phenotype-associated
VAR_047282 commonName VAR_047282
VAR_047282 disease not phenotype-associated
VAR_047283 commonName VAR_047283
VAR_047283 disease not phenotype-associated
VAR_047284 commonName VAR_047284
VAR_047284 disease not phenotype-associated
VAR_047285 commonName VAR_047285
VAR_047285 disease not phenotype-associated
VAR_047286 commonName VAR_047286
VAR_047286 disease not phenotype-associated
VAR_047287 commonName VAR_047287
VAR_047287 disease not phenotype-associated
VAR_047288 commonName VAR_047288
VAR_047288 disease not phenotype-associated
VAR_047289 commonName VAR_047289
VAR_047289 disease not phenotype-associated
VAR_047290 commonName VAR_047290
VAR_047290 disease not phenotype-associated
VAR_047291 commonName VAR_047291
VAR_047291 disease not phenotype-associated
VAR_047292 commonName VAR_047292
VAR_047292 disease not phenotype-associated
VAR_047303 commonName VAR_047303
VAR_047303 disease not phenotype-associated
VAR_047304 commonName VAR_047304
VAR_047304 disease not phenotype-associated
VAR_047305 commonName VAR_047305
VAR_047305 disease not phenotype-associated
VAR_047306 commonName VAR_047306
VAR_047306 disease not phenotype-associated
VAR_047308 commonName VAR_047308
VAR_047308 disease not phenotype-associated
VAR_047309 commonName VAR_047309
VAR_047309 disease not phenotype-associated
VAR_047311 commonName VAR_047311
VAR_047311 disease not phenotype-associated
VAR_047312 commonName VAR_047312
VAR_047312 disease not phenotype-associated
VAR_047313 commonName VAR_047313
VAR_047313 disease not phenotype-associated
VAR_047314 commonName VAR_047314
VAR_047314 disease not phenotype-associated
VAR_047315 commonName VAR_047315
VAR_047315 disease not phenotype-associated
VAR_047316 commonName VAR_047316
VAR_047316 disease not phenotype-associated
VAR_047317 commonName VAR_047317
VAR_047317 disease not phenotype-associated
VAR_047318 commonName VAR_047318
VAR_047318 disease not phenotype-associated
VAR_047319 commonName VAR_047319
VAR_047319 disease not phenotype-associated
VAR_047320 commonName VAR_047320
VAR_047320 disease not phenotype-associated
VAR_047321 commonName VAR_047321
VAR_047321 disease not phenotype-associated
VAR_047322 commonName VAR_047322
VAR_047322 disease not phenotype-associated
VAR_047323 commonName VAR_047323
VAR_047323 disease not phenotype-associated
VAR_047324 commonName VAR_047324
VAR_047324 disease not phenotype-associated
VAR_047325 commonName VAR_047325
VAR_047325 disease not phenotype-associated
VAR_047326 commonName VAR_047326
VAR_047326 disease not phenotype-associated
VAR_047327 commonName VAR_047327
VAR_047327 disease not phenotype-associated
VAR_047328 commonName VAR_047328
VAR_047328 disease not phenotype-associated
VAR_047329 commonName VAR_047329
VAR_047329 disease not phenotype-associated
VAR_047330 commonName VAR_047330
VAR_047330 disease not phenotype-associated
VAR_047331 commonName VAR_047331
VAR_047331 disease not phenotype-associated
VAR_047332 commonName VAR_047332
VAR_047332 disease not phenotype-associated
VAR_047333 commonName VAR_047333
VAR_047333 disease not phenotype-associated
VAR_047334 commonName VAR_047334
VAR_047334 disease not phenotype-associated
VAR_047335 commonName VAR_047335
VAR_047335 disease not phenotype-associated
VAR_047336 commonName VAR_047336
VAR_047336 disease not phenotype-associated
VAR_047337 commonName VAR_047337
VAR_047337 disease not phenotype-associated
VAR_047338 commonName VAR_047338
VAR_047338 disease not phenotype-associated
VAR_047339 commonName VAR_047339
VAR_047339 disease not phenotype-associated
VAR_047340 commonName VAR_047340
VAR_047340 disease not phenotype-associated
VAR_047343 commonName VAR_047343
VAR_047343 disease not phenotype-associated
VAR_047344 commonName VAR_047344
VAR_047344 disease not phenotype-associated
VAR_047345 commonName VAR_047345
VAR_047345 disease not phenotype-associated
VAR_047346 commonName VAR_047346
VAR_047346 disease not phenotype-associated
VAR_047347 commonName VAR_047347
VAR_047347 disease not phenotype-associated
VAR_047348 commonName VAR_047348
VAR_047348 disease not phenotype-associated
VAR_047349 commonName VAR_047349
VAR_047349 disease phenotype-associated
VAR_047349 phenoCommon Psoriasis type 13 (PSORS13) [MIM:614070]
VAR_047350 commonName VAR_047350
VAR_047350 disease not phenotype-associated
VAR_047351 commonName VAR_047351
VAR_047351 disease not phenotype-associated
VAR_047352 commonName VAR_047352
VAR_047352 disease not phenotype-associated
VAR_047353 commonName VAR_047353
VAR_047353 disease not phenotype-associated
VAR_047354 commonName VAR_047354
VAR_047354 disease not phenotype-associated
VAR_047357 commonName VAR_047357
VAR_047357 disease not phenotype-associated
VAR_047358 commonName VAR_047358
VAR_047358 disease not phenotype-associated
VAR_047359 commonName VAR_047359
VAR_047359 disease not phenotype-associated
VAR_047360 commonName VAR_047360
VAR_047360 disease not phenotype-associated
VAR_047361 commonName VAR_047361
VAR_047361 disease not phenotype-associated
VAR_047362 commonName VAR_047362
VAR_047362 disease not phenotype-associated
VAR_047364 commonName VAR_047364
VAR_047364 disease not phenotype-associated
VAR_047367 commonName VAR_047367
VAR_047367 disease not phenotype-associated
VAR_047368 commonName VAR_047368
VAR_047368 disease not phenotype-associated
VAR_047369 commonName VAR_047369
VAR_047369 disease not phenotype-associated
VAR_047370 commonName VAR_047370
VAR_047370 disease not phenotype-associated
VAR_047371 commonName VAR_047371
VAR_047371 disease not phenotype-associated
VAR_047372 commonName VAR_047372
VAR_047372 disease not phenotype-associated
VAR_047373 commonName VAR_047373
VAR_047373 disease not phenotype-associated
VAR_047374 commonName VAR_047374
VAR_047374 disease not phenotype-associated
VAR_047375 commonName VAR_047375
VAR_047375 disease not phenotype-associated
VAR_047376 commonName VAR_047376
VAR_047376 disease not phenotype-associated
VAR_047381 commonName VAR_047381
VAR_047381 disease not phenotype-associated
VAR_047382 commonName VAR_047382
VAR_047382 disease not phenotype-associated
VAR_047383 commonName VAR_047383
VAR_047383 disease not phenotype-associated
VAR_047384 commonName VAR_047384
VAR_047384 disease not phenotype-associated
VAR_047385 commonName VAR_047385
VAR_047385 disease not phenotype-associated
VAR_047389 commonName VAR_047389
VAR_047389 disease not phenotype-associated
VAR_047390 commonName VAR_047390
VAR_047390 disease not phenotype-associated
VAR_047391 commonName VAR_047391
VAR_047391 disease not phenotype-associated
VAR_047392 commonName VAR_047392
VAR_047392 disease not phenotype-associated
VAR_047393 commonName VAR_047393
VAR_047393 disease not phenotype-associated
VAR_047394 commonName VAR_047394
VAR_047394 disease not phenotype-associated
VAR_047395 commonName VAR_047395
VAR_047395 disease not phenotype-associated
VAR_047396 commonName VAR_047396
VAR_047396 disease not phenotype-associated
VAR_047397 commonName VAR_047397
VAR_047397 disease not phenotype-associated
VAR_047398 commonName VAR_047398
VAR_047398 disease not phenotype-associated
VAR_047399 commonName VAR_047399
VAR_047399 disease not phenotype-associated
VAR_047400 commonName VAR_047400
VAR_047400 disease not phenotype-associated
VAR_047401 commonName VAR_047401
VAR_047401 disease not phenotype-associated
VAR_047402 commonName VAR_047402
VAR_047402 disease not phenotype-associated
VAR_047403 commonName VAR_047403
VAR_047403 disease not phenotype-associated
VAR_047407 commonName VAR_047407
VAR_047407 disease not phenotype-associated
VAR_047409 commonName VAR_047409
VAR_047409 disease not phenotype-associated
VAR_047410 commonName VAR_047410
VAR_047410 disease not phenotype-associated
VAR_047411 commonName VAR_047411
VAR_047411 disease not phenotype-associated
VAR_047412 commonName VAR_047412
VAR_047412 disease not phenotype-associated
VAR_047413 commonName VAR_047413
VAR_047413 disease not phenotype-associated
VAR_047414 commonName VAR_047414
VAR_047414 disease not phenotype-associated
VAR_047415 commonName VAR_047415
VAR_047415 disease not phenotype-associated
VAR_047416 commonName VAR_047416
VAR_047416 disease not phenotype-associated
VAR_047417 commonName VAR_047417
VAR_047417 disease not phenotype-associated
VAR_047418 commonName VAR_047418
VAR_047418 disease not phenotype-associated
VAR_047419 commonName VAR_047419
VAR_047419 disease not phenotype-associated
VAR_047420 commonName VAR_047420
VAR_047420 disease not phenotype-associated
VAR_047421 commonName VAR_047421
VAR_047421 disease not phenotype-associated
VAR_047423 commonName VAR_047423
VAR_047423 disease not phenotype-associated
VAR_047424 commonName VAR_047424
VAR_047424 disease not phenotype-associated
VAR_047425 commonName VAR_047425
VAR_047425 disease not phenotype-associated
VAR_047426 commonName VAR_047426
VAR_047426 disease not phenotype-associated
VAR_047427 commonName VAR_047427
VAR_047427 disease not phenotype-associated
VAR_047429 commonName VAR_047429
VAR_047429 disease not phenotype-associated
VAR_047430 commonName VAR_047430
VAR_047430 disease not phenotype-associated
VAR_047431 commonName VAR_047431
VAR_047431 disease not phenotype-associated
VAR_047432 commonName VAR_047432
VAR_047432 disease not phenotype-associated
VAR_047433 commonName VAR_047433
VAR_047433 disease not phenotype-associated
VAR_047434 commonName VAR_047434
VAR_047434 disease not phenotype-associated
VAR_047435 commonName VAR_047435
VAR_047435 disease not phenotype-associated
VAR_047436 commonName VAR_047436
VAR_047436 disease not phenotype-associated
VAR_047437 commonName VAR_047437
VAR_047437 disease not phenotype-associated
VAR_047438 commonName VAR_047438
VAR_047438 disease not phenotype-associated
VAR_047439 commonName VAR_047439
VAR_047439 disease not phenotype-associated
VAR_047440 commonName VAR_047440
VAR_047440 disease not phenotype-associated
VAR_047441 commonName VAR_047441
VAR_047441 disease not phenotype-associated
VAR_047442 commonName VAR_047442
VAR_047442 disease not phenotype-associated
VAR_047443 commonName VAR_047443
VAR_047443 disease not phenotype-associated
VAR_047444 commonName VAR_047444
VAR_047444 disease not phenotype-associated
VAR_047445 commonName VAR_047445
VAR_047445 disease not phenotype-associated
VAR_047446 commonName VAR_047446
VAR_047446 disease not phenotype-associated
VAR_047447 commonName VAR_047447
VAR_047447 disease not phenotype-associated
VAR_047448 commonName VAR_047448
VAR_047448 disease not phenotype-associated
VAR_047449 commonName VAR_047449
VAR_047449 disease not phenotype-associated
VAR_047450 commonName VAR_047450
VAR_047450 disease not phenotype-associated
VAR_047451 commonName VAR_047451
VAR_047451 disease not phenotype-associated
VAR_047452 commonName VAR_047452
VAR_047452 disease not phenotype-associated
VAR_047453 commonName VAR_047453
VAR_047453 disease not phenotype-associated
VAR_047454 commonName VAR_047454
VAR_047454 disease not phenotype-associated
VAR_047455 commonName VAR_047455
VAR_047455 disease not phenotype-associated
VAR_047456 commonName VAR_047456
VAR_047456 disease not phenotype-associated
VAR_047457 commonName VAR_047457
VAR_047457 disease not phenotype-associated
VAR_047458 commonName VAR_047458
VAR_047458 disease not phenotype-associated
VAR_047459 commonName VAR_047459
VAR_047459 disease not phenotype-associated
VAR_047460 commonName VAR_047460
VAR_047460 disease not phenotype-associated
VAR_047461 commonName VAR_047461
VAR_047461 disease not phenotype-associated
VAR_047462 commonName VAR_047462
VAR_047462 disease not phenotype-associated
VAR_047463 commonName VAR_047463
VAR_047463 disease not phenotype-associated
VAR_047465 commonName VAR_047465
VAR_047465 disease not phenotype-associated
VAR_047466 commonName VAR_047466
VAR_047466 disease not phenotype-associated
VAR_047467 commonName VAR_047467
VAR_047467 disease not phenotype-associated
VAR_047469 commonName VAR_047469
VAR_047469 disease not phenotype-associated
VAR_047471 commonName VAR_047471
VAR_047471 disease not phenotype-associated
VAR_047472 commonName VAR_047472
VAR_047472 disease not phenotype-associated
VAR_047473 commonName VAR_047473
VAR_047473 disease not phenotype-associated
VAR_047474 commonName VAR_047474
VAR_047474 disease not phenotype-associated
VAR_047475 commonName VAR_047475
VAR_047475 disease not phenotype-associated
VAR_047476 commonName VAR_047476
VAR_047476 disease not phenotype-associated
VAR_047477 commonName VAR_047477
VAR_047477 disease not phenotype-associated
VAR_047478 commonName VAR_047478
VAR_047478 disease not phenotype-associated
VAR_047479 commonName VAR_047479
VAR_047479 disease not phenotype-associated
VAR_047480 commonName VAR_047480
VAR_047480 disease not phenotype-associated
VAR_047481 commonName VAR_047481
VAR_047481 disease not phenotype-associated
VAR_047482 commonName VAR_047482
VAR_047482 disease not phenotype-associated
VAR_047483 commonName VAR_047483
VAR_047483 disease not phenotype-associated
VAR_047484 commonName VAR_047484
VAR_047484 disease not phenotype-associated
VAR_047488 commonName VAR_047488
VAR_047488 disease not phenotype-associated
VAR_047489 commonName VAR_047489
VAR_047489 disease not phenotype-associated
VAR_047490 commonName VAR_047490
VAR_047490 disease not phenotype-associated
VAR_047491 commonName VAR_047491
VAR_047491 disease not phenotype-associated
VAR_047492 commonName VAR_047492
VAR_047492 disease not phenotype-associated
VAR_047493 commonName VAR_047493
VAR_047493 disease not phenotype-associated
VAR_047494 commonName VAR_047494
VAR_047494 disease not phenotype-associated
VAR_047495 commonName VAR_047495
VAR_047495 disease not phenotype-associated
VAR_047496 commonName VAR_047496
VAR_047496 disease not phenotype-associated
VAR_047497 commonName VAR_047497
VAR_047497 disease not phenotype-associated
VAR_047500 commonName VAR_047500
VAR_047500 disease not phenotype-associated
VAR_047501 commonName VAR_047501
VAR_047501 disease not phenotype-associated
VAR_047502 commonName VAR_047502
VAR_047502 disease not phenotype-associated
VAR_047503 commonName VAR_047503
VAR_047503 disease not phenotype-associated
VAR_047504 commonName VAR_047504
VAR_047504 disease not phenotype-associated
VAR_047505 commonName VAR_047505
VAR_047505 disease not phenotype-associated
VAR_047506 commonName VAR_047506
VAR_047506 disease not phenotype-associated
VAR_047507 commonName VAR_047507
VAR_047507 disease not phenotype-associated
VAR_047508 commonName VAR_047508
VAR_047508 disease not phenotype-associated
VAR_047509 commonName VAR_047509
VAR_047509 disease not phenotype-associated
VAR_047510 commonName VAR_047510
VAR_047510 disease not phenotype-associated
VAR_047511 commonName VAR_047511
VAR_047511 disease not phenotype-associated
VAR_047512 commonName VAR_047512
VAR_047512 disease not phenotype-associated
VAR_047513 commonName VAR_047513
VAR_047513 disease not phenotype-associated
VAR_047515 commonName VAR_047515
VAR_047515 disease not phenotype-associated
VAR_047516 commonName VAR_047516
VAR_047516 disease not phenotype-associated
VAR_047519 commonName VAR_047519
VAR_047519 disease not phenotype-associated
VAR_047520 commonName VAR_047520
VAR_047520 disease not phenotype-associated
VAR_047521 commonName VAR_047521
VAR_047521 disease not phenotype-associated
VAR_047522 commonName VAR_047522
VAR_047522 disease not phenotype-associated
VAR_047523 commonName VAR_047523
VAR_047523 disease not phenotype-associated
VAR_047524 commonName VAR_047524
VAR_047524 disease not phenotype-associated
VAR_047525 commonName VAR_047525
VAR_047525 disease not phenotype-associated
VAR_047526 commonName VAR_047526
VAR_047526 disease not phenotype-associated
VAR_047527 commonName VAR_047527
VAR_047527 disease not phenotype-associated
VAR_047530 commonName VAR_047530
VAR_047530 disease not phenotype-associated
VAR_047531 commonName VAR_047531
VAR_047531 disease not phenotype-associated
VAR_047532 commonName VAR_047532
VAR_047532 disease not phenotype-associated
VAR_047533 commonName VAR_047533
VAR_047533 disease not phenotype-associated
VAR_047534 commonName VAR_047534
VAR_047534 disease not phenotype-associated
VAR_047535 commonName VAR_047535
VAR_047535 disease not phenotype-associated
VAR_047536 commonName VAR_047536
VAR_047536 disease not phenotype-associated
VAR_047537 commonName VAR_047537
VAR_047537 disease not phenotype-associated
VAR_047538 commonName VAR_047538
VAR_047538 disease not phenotype-associated
VAR_047540 commonName VAR_047540
VAR_047540 disease not phenotype-associated
VAR_047541 commonName VAR_047541
VAR_047541 disease not phenotype-associated
VAR_047542 commonName VAR_047542
VAR_047542 disease not phenotype-associated
VAR_047543 commonName VAR_047543
VAR_047543 disease not phenotype-associated
VAR_047544 commonName VAR_047544
VAR_047544 disease not phenotype-associated
VAR_047545 commonName VAR_047545
VAR_047545 disease not phenotype-associated
VAR_047546 commonName VAR_047546
VAR_047546 disease not phenotype-associated
VAR_047547 commonName VAR_047547
VAR_047547 disease not phenotype-associated
VAR_047548 commonName VAR_047548
VAR_047548 disease not phenotype-associated
VAR_047549 commonName VAR_047549
VAR_047549 disease not phenotype-associated
VAR_047550 commonName VAR_047550
VAR_047550 disease not phenotype-associated
VAR_047551 commonName VAR_047551
VAR_047551 disease not phenotype-associated
VAR_047552 commonName VAR_047552
VAR_047552 disease not phenotype-associated
VAR_047553 commonName VAR_047553
VAR_047553 disease not phenotype-associated
VAR_047554 commonName VAR_047554
VAR_047554 disease phenotype-associated
VAR_047554 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_047555 commonName VAR_047555
VAR_047555 disease phenotype-associated
VAR_047555 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_047556 commonName VAR_047556
VAR_047556 disease phenotype-associated
VAR_047556 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_047557 commonName VAR_047557
VAR_047557 disease not phenotype-associated
VAR_047558 commonName VAR_047558
VAR_047558 disease not phenotype-associated
VAR_047560 commonName VAR_047560
VAR_047560 disease not phenotype-associated
VAR_047561 commonName VAR_047561
VAR_047561 disease not phenotype-associated
VAR_047562 commonName VAR_047562
VAR_047562 disease not phenotype-associated
VAR_047563 commonName VAR_047563
VAR_047563 disease not phenotype-associated
VAR_047564 commonName VAR_047564
VAR_047564 disease not phenotype-associated
VAR_047565 commonName VAR_047565
VAR_047565 disease not phenotype-associated
VAR_047566 commonName VAR_047566
VAR_047566 disease phenotype-associated
VAR_047566 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047567 commonName VAR_047567
VAR_047567 disease phenotype-associated
VAR_047567 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047568 commonName VAR_047568
VAR_047568 disease phenotype-associated
VAR_047568 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047569 commonName VAR_047569
VAR_047569 disease phenotype-associated
VAR_047569 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047570 commonName VAR_047570
VAR_047570 disease phenotype-associated
VAR_047570 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047571 commonName VAR_047571
VAR_047571 disease phenotype-associated
VAR_047571 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047572 commonName VAR_047572
VAR_047572 disease phenotype-associated
VAR_047572 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047573 commonName VAR_047573
VAR_047573 disease phenotype-associated
VAR_047573 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047574 commonName VAR_047574
VAR_047574 disease phenotype-associated
VAR_047574 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047575 commonName VAR_047575
VAR_047575 disease phenotype-associated
VAR_047575 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047576 commonName VAR_047576
VAR_047576 disease phenotype-associated
VAR_047576 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047577 commonName VAR_047577
VAR_047577 disease phenotype-associated
VAR_047577 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047578 commonName VAR_047578
VAR_047578 disease phenotype-associated
VAR_047578 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047579 commonName VAR_047579
VAR_047579 disease phenotype-associated
VAR_047579 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047580 commonName VAR_047580
VAR_047580 disease phenotype-associated
VAR_047580 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047582 commonName VAR_047582
VAR_047582 disease phenotype-associated
VAR_047582 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047583 commonName VAR_047583
VAR_047583 disease phenotype-associated
VAR_047583 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047584 commonName VAR_047584
VAR_047584 disease phenotype-associated
VAR_047584 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047585 commonName VAR_047585
VAR_047585 disease phenotype-associated
VAR_047585 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047586 commonName VAR_047586
VAR_047586 disease phenotype-associated
VAR_047586 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047587 commonName VAR_047587
VAR_047587 disease phenotype-associated
VAR_047587 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047588 commonName VAR_047588
VAR_047588 disease phenotype-associated
VAR_047588 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047589 commonName VAR_047589
VAR_047589 disease phenotype-associated
VAR_047589 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047590 commonName VAR_047590
VAR_047590 disease phenotype-associated
VAR_047590 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047591 commonName VAR_047591
VAR_047591 disease phenotype-associated
VAR_047591 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047592 commonName VAR_047592
VAR_047592 disease phenotype-associated
VAR_047592 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047593 commonName VAR_047593
VAR_047593 disease phenotype-associated
VAR_047593 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047594 commonName VAR_047594
VAR_047594 disease phenotype-associated
VAR_047594 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047595 commonName VAR_047595
VAR_047595 disease phenotype-associated
VAR_047595 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047596 commonName VAR_047596
VAR_047596 disease phenotype-associated
VAR_047596 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047597 commonName VAR_047597
VAR_047597 disease phenotype-associated
VAR_047597 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047598 commonName VAR_047598
VAR_047598 disease phenotype-associated
VAR_047598 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047599 commonName VAR_047599
VAR_047599 disease phenotype-associated
VAR_047599 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047600 commonName VAR_047600
VAR_047600 disease phenotype-associated
VAR_047600 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047601 commonName VAR_047601
VAR_047601 disease phenotype-associated
VAR_047601 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047602 commonName VAR_047602
VAR_047602 disease phenotype-associated
VAR_047602 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047603 commonName VAR_047603
VAR_047603 disease phenotype-associated
VAR_047603 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047604 commonName VAR_047604
VAR_047604 disease phenotype-associated
VAR_047604 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047605 commonName VAR_047605
VAR_047605 disease phenotype-associated
VAR_047605 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900]
VAR_047606 commonName VAR_047606
VAR_047606 disease not phenotype-associated
VAR_047607 commonName VAR_047607
VAR_047607 disease not phenotype-associated
VAR_047608 commonName VAR_047608
VAR_047608 disease phenotype-associated
VAR_047608 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047609 commonName VAR_047609
VAR_047609 disease phenotype-associated
VAR_047609 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047610 commonName VAR_047610
VAR_047610 disease phenotype-associated
VAR_047610 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047611 commonName VAR_047611
VAR_047611 disease phenotype-associated
VAR_047611 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047612 commonName VAR_047612
VAR_047612 disease phenotype-associated
VAR_047612 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047613 commonName VAR_047613
VAR_047614 commonName VAR_047614
VAR_047614 disease phenotype-associated
VAR_047614 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047615 commonName VAR_047615
VAR_047615 disease phenotype-associated
VAR_047615 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200]
VAR_047616 commonName VAR_047616
VAR_047616 disease phenotype-associated
VAR_047616 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047617 commonName VAR_047617
VAR_047617 disease phenotype-associated
VAR_047617 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047618 commonName VAR_047618
VAR_047618 disease phenotype-associated
VAR_047618 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047619 commonName VAR_047619
VAR_047619 disease phenotype-associated
VAR_047619 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047620 commonName VAR_047620
VAR_047620 disease phenotype-associated
VAR_047620 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047621 commonName VAR_047621
VAR_047621 disease phenotype-associated
VAR_047621 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300]
VAR_047623 commonName VAR_047623
VAR_047623 disease not phenotype-associated
VAR_047624 commonName VAR_047624
VAR_047624 disease not phenotype-associated
VAR_047626 commonName VAR_047626
VAR_047626 disease not phenotype-associated
VAR_047627 commonName VAR_047627
VAR_047627 disease not phenotype-associated
VAR_047628 commonName VAR_047628
VAR_047628 disease not phenotype-associated
VAR_047629 commonName VAR_047629
VAR_047629 disease not phenotype-associated
VAR_047630 commonName VAR_047630
VAR_047630 disease not phenotype-associated
VAR_047631 commonName VAR_047631
VAR_047631 disease not phenotype-associated
VAR_047632 commonName VAR_047632
VAR_047632 disease not phenotype-associated
VAR_047633 commonName VAR_047633
VAR_047633 disease not phenotype-associated
VAR_047634 commonName VAR_047634
VAR_047634 disease not phenotype-associated
VAR_047635 commonName VAR_047635
VAR_047635 disease not phenotype-associated
VAR_047636 commonName VAR_047636
VAR_047636 disease not phenotype-associated
VAR_047637 commonName VAR_047637
VAR_047637 disease not phenotype-associated
VAR_047638 commonName VAR_047638
VAR_047638 disease not phenotype-associated
VAR_047639 commonName VAR_047639
VAR_047639 disease not phenotype-associated
VAR_047640 commonName VAR_047640
VAR_047640 disease not phenotype-associated
VAR_047641 commonName VAR_047641
VAR_047641 disease not phenotype-associated
VAR_047643 commonName VAR_047643
VAR_047643 disease not phenotype-associated
VAR_047644 commonName VAR_047644
VAR_047644 disease not phenotype-associated
VAR_047645 commonName VAR_047645
VAR_047645 disease not phenotype-associated
VAR_047646 commonName VAR_047646
VAR_047646 disease not phenotype-associated
VAR_047647 commonName VAR_047647
VAR_047647 disease not phenotype-associated
VAR_047648 commonName VAR_047648
VAR_047648 disease not phenotype-associated
VAR_047649 commonName VAR_047649
VAR_047649 disease not phenotype-associated
VAR_047650 commonName VAR_047650
VAR_047650 disease not phenotype-associated
VAR_047651 commonName VAR_047651
VAR_047651 disease not phenotype-associated
VAR_047652 commonName VAR_047652
VAR_047652 disease not phenotype-associated
VAR_047653 commonName VAR_047653
VAR_047653 disease not phenotype-associated
VAR_047654 commonName VAR_047654
VAR_047654 disease not phenotype-associated
VAR_047655 commonName VAR_047655
VAR_047655 disease not phenotype-associated
VAR_047656 commonName VAR_047656
VAR_047656 disease not phenotype-associated
VAR_047657 commonName VAR_047657
VAR_047657 disease not phenotype-associated
VAR_047658 commonName VAR_047658
VAR_047658 disease not phenotype-associated
VAR_047659 commonName VAR_047659
VAR_047659 disease not phenotype-associated
VAR_047660 commonName VAR_047660
VAR_047660 disease not phenotype-associated
VAR_047661 commonName VAR_047661
VAR_047661 disease not phenotype-associated
VAR_047662 commonName VAR_047662
VAR_047662 disease not phenotype-associated
VAR_047663 commonName VAR_047663
VAR_047663 disease not phenotype-associated
VAR_047664 commonName VAR_047664
VAR_047664 disease not phenotype-associated
VAR_047665 commonName VAR_047665
VAR_047665 disease not phenotype-associated
VAR_047666 commonName VAR_047666
VAR_047666 disease not phenotype-associated
VAR_047667 commonName VAR_047667
VAR_047667 disease not phenotype-associated
VAR_047668 commonName VAR_047668
VAR_047668 disease not phenotype-associated
VAR_047669 commonName VAR_047669
VAR_047669 disease not phenotype-associated
VAR_047670 commonName VAR_047670
VAR_047670 disease not phenotype-associated
VAR_047671 commonName VAR_047671
VAR_047671 disease not phenotype-associated
VAR_047672 commonName VAR_047672
VAR_047672 disease not phenotype-associated
VAR_047675 commonName VAR_047675
VAR_047675 disease not phenotype-associated
VAR_047676 commonName VAR_047676
VAR_047676 disease not phenotype-associated
VAR_047677 commonName VAR_047677
VAR_047677 disease not phenotype-associated
VAR_047678 commonName VAR_047678
VAR_047678 disease not phenotype-associated
VAR_047679 commonName VAR_047679
VAR_047679 disease not phenotype-associated
VAR_047680 commonName VAR_047680
VAR_047680 disease not phenotype-associated
VAR_047681 commonName VAR_047681
VAR_047681 disease not phenotype-associated
VAR_047682 commonName VAR_047682
VAR_047682 disease not phenotype-associated
VAR_047691 commonName VAR_047691
VAR_047691 disease not phenotype-associated
VAR_047692 commonName VAR_047692
VAR_047692 disease not phenotype-associated
VAR_047693 commonName VAR_047693
VAR_047693 disease not phenotype-associated
VAR_047694 commonName VAR_047694
VAR_047694 disease not phenotype-associated
VAR_047695 commonName VAR_047695
VAR_047695 disease not phenotype-associated
VAR_047696 commonName VAR_047696
VAR_047696 disease not phenotype-associated
VAR_047697 commonName VAR_047697
VAR_047697 disease not phenotype-associated
VAR_047698 commonName VAR_047698
VAR_047698 disease not phenotype-associated
VAR_047699 commonName VAR_047699
VAR_047699 disease not phenotype-associated
VAR_047700 commonName VAR_047700
VAR_047700 disease not phenotype-associated
VAR_047701 commonName VAR_047701
VAR_047701 disease not phenotype-associated
VAR_047702 commonName VAR_047702
VAR_047702 disease not phenotype-associated
VAR_047703 commonName VAR_047703
VAR_047703 disease not phenotype-associated
VAR_047704 commonName VAR_047704
VAR_047704 disease not phenotype-associated
VAR_047705 commonName VAR_047705
VAR_047705 disease not phenotype-associated
VAR_047706 commonName VAR_047706
VAR_047706 disease not phenotype-associated
VAR_047707 commonName VAR_047707
VAR_047707 disease not phenotype-associated
VAR_047708 commonName VAR_047708
VAR_047708 disease not phenotype-associated
VAR_047709 commonName VAR_047709
VAR_047709 disease not phenotype-associated
VAR_047711 commonName VAR_047711
VAR_047711 disease not phenotype-associated
VAR_047712 commonName VAR_047712
VAR_047712 disease not phenotype-associated
VAR_047713 commonName VAR_047713
VAR_047713 disease not phenotype-associated
VAR_047714 commonName VAR_047714
VAR_047714 disease not phenotype-associated
VAR_047715 commonName VAR_047715
VAR_047715 disease not phenotype-associated
VAR_047716 commonName VAR_047716
VAR_047716 disease not phenotype-associated
VAR_047717 commonName VAR_047717
VAR_047717 disease not phenotype-associated
VAR_047718 commonName VAR_047718
VAR_047718 disease not phenotype-associated
VAR_047719 commonName VAR_047719
VAR_047719 disease not phenotype-associated
VAR_047720 commonName VAR_047720
VAR_047720 disease not phenotype-associated
VAR_047721 commonName VAR_047721
VAR_047721 disease not phenotype-associated
VAR_047722 commonName VAR_047722
VAR_047722 disease not phenotype-associated
VAR_047723 commonName VAR_047723
VAR_047723 disease not phenotype-associated
VAR_047724 commonName VAR_047724
VAR_047724 disease not phenotype-associated
VAR_047725 commonName VAR_047725
VAR_047725 disease not phenotype-associated
VAR_047726 commonName VAR_047726
VAR_047726 disease not phenotype-associated
VAR_047727 commonName VAR_047727
VAR_047727 disease not phenotype-associated
VAR_047728 commonName VAR_047728
VAR_047728 disease not phenotype-associated
VAR_047729 commonName VAR_047729
VAR_047729 disease not phenotype-associated
VAR_047730 commonName VAR_047730
VAR_047730 disease not phenotype-associated
VAR_047731 commonName VAR_047731
VAR_047731 disease not phenotype-associated
VAR_047736 commonName VAR_047736
VAR_047736 disease not phenotype-associated
VAR_047737 commonName VAR_047737
VAR_047737 disease not phenotype-associated
VAR_047738 commonName VAR_047738
VAR_047738 disease not phenotype-associated
VAR_047739 commonName VAR_047739
VAR_047739 disease not phenotype-associated
VAR_047740 commonName VAR_047740
VAR_047740 disease not phenotype-associated
VAR_047741 commonName VAR_047741
VAR_047741 disease not phenotype-associated
VAR_047742 commonName VAR_047742
VAR_047742 disease not phenotype-associated
VAR_047743 commonName VAR_047743
VAR_047743 disease not phenotype-associated
VAR_047744 commonName VAR_047744
VAR_047744 disease not phenotype-associated
VAR_047745 commonName VAR_047745
VAR_047745 disease not phenotype-associated
VAR_047746 commonName VAR_047746
VAR_047746 disease not phenotype-associated
VAR_047747 commonName VAR_047747
VAR_047747 disease not phenotype-associated
VAR_047748 commonName VAR_047748
VAR_047748 disease not phenotype-associated
VAR_047749 commonName VAR_047749
VAR_047749 disease not phenotype-associated
VAR_047750 commonName VAR_047750
VAR_047750 disease not phenotype-associated
VAR_047751 commonName VAR_047751
VAR_047751 disease not phenotype-associated
VAR_047752 commonName VAR_047752
VAR_047752 disease not phenotype-associated
VAR_047753 commonName VAR_047753
VAR_047753 disease not phenotype-associated
VAR_047755 commonName VAR_047755
VAR_047755 disease not phenotype-associated
VAR_047757 commonName VAR_047757
VAR_047757 disease not phenotype-associated
VAR_047758 commonName VAR_047758
VAR_047758 disease not phenotype-associated
VAR_047759 commonName VAR_047759
VAR_047759 disease not phenotype-associated
VAR_047760 commonName VAR_047760
VAR_047760 disease not phenotype-associated
VAR_047761 commonName VAR_047761
VAR_047761 disease not phenotype-associated
VAR_047762 commonName VAR_047762
VAR_047762 disease not phenotype-associated
VAR_047765 commonName VAR_047765
VAR_047765 disease not phenotype-associated
VAR_047768 commonName VAR_047768
VAR_047768 disease not phenotype-associated
VAR_047769 commonName VAR_047769
VAR_047769 disease not phenotype-associated
VAR_047770 commonName VAR_047770
VAR_047770 disease phenotype-associated
VAR_047770 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_047771 commonName VAR_047771
VAR_047771 disease not phenotype-associated
VAR_047772 commonName VAR_047772
VAR_047772 disease not phenotype-associated
VAR_047773 commonName VAR_047773
VAR_047773 disease not phenotype-associated
VAR_047774 commonName VAR_047774
VAR_047774 disease not phenotype-associated
VAR_047775 commonName VAR_047775
VAR_047775 disease not phenotype-associated
VAR_047776 commonName VAR_047776
VAR_047776 disease not phenotype-associated
VAR_047777 commonName VAR_047777
VAR_047777 disease not phenotype-associated
VAR_047780 commonName VAR_047780
VAR_047780 disease not phenotype-associated
VAR_047781 commonName VAR_047781
VAR_047781 disease not phenotype-associated
VAR_047782 commonName VAR_047782
VAR_047782 disease not phenotype-associated
VAR_047783 commonName VAR_047783
VAR_047783 disease not phenotype-associated
VAR_047784 commonName VAR_047784
VAR_047784 disease not phenotype-associated
VAR_047785 commonName VAR_047785
VAR_047785 disease not phenotype-associated
VAR_047786 commonName VAR_047786
VAR_047786 disease not phenotype-associated
VAR_047787 commonName VAR_047787
VAR_047787 disease not phenotype-associated
VAR_047788 commonName VAR_047788
VAR_047788 disease not phenotype-associated
VAR_047789 commonName VAR_047789
VAR_047789 disease not phenotype-associated
VAR_047790 commonName VAR_047790
VAR_047790 disease not phenotype-associated
VAR_047791 commonName VAR_047791
VAR_047791 disease not phenotype-associated
VAR_047792 commonName VAR_047792
VAR_047792 disease not phenotype-associated
VAR_047793 commonName VAR_047793
VAR_047793 disease not phenotype-associated
VAR_047794 commonName VAR_047794
VAR_047794 disease not phenotype-associated
VAR_047795 commonName VAR_047795
VAR_047795 disease not phenotype-associated
VAR_047796 commonName VAR_047796
VAR_047796 disease not phenotype-associated
VAR_047797 commonName VAR_047797
VAR_047797 disease not phenotype-associated
VAR_047798 commonName VAR_047798
VAR_047798 disease not phenotype-associated
VAR_047799 commonName VAR_047799
VAR_047799 disease not phenotype-associated
VAR_047800 commonName VAR_047800
VAR_047800 disease not phenotype-associated
VAR_047801 commonName VAR_047801
VAR_047801 disease not phenotype-associated
VAR_047802 commonName VAR_047802
VAR_047802 disease not phenotype-associated
VAR_047803 commonName VAR_047803
VAR_047803 disease not phenotype-associated
VAR_047804 commonName VAR_047804
VAR_047804 disease not phenotype-associated
VAR_047805 commonName VAR_047805
VAR_047805 disease not phenotype-associated
VAR_047806 commonName VAR_047806
VAR_047806 disease not phenotype-associated
VAR_047807 commonName VAR_047807
VAR_047807 disease not phenotype-associated
VAR_047808 commonName VAR_047808
VAR_047808 disease not phenotype-associated
VAR_047809 commonName VAR_047809
VAR_047809 disease phenotype-associated
VAR_047809 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_047810 commonName VAR_047810
VAR_047810 disease not phenotype-associated
VAR_047811 commonName VAR_047811
VAR_047811 disease not phenotype-associated
VAR_047812 commonName VAR_047812
VAR_047812 disease phenotype-associated
VAR_047812 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_047813 commonName VAR_047813
VAR_047813 disease phenotype-associated
VAR_047813 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_047814 commonName VAR_047814
VAR_047814 disease not phenotype-associated
VAR_047815 commonName VAR_047815
VAR_047815 disease not phenotype-associated
VAR_047816 commonName VAR_047816
VAR_047816 disease not phenotype-associated
VAR_047817 commonName VAR_047817
VAR_047817 disease not phenotype-associated
VAR_047818 commonName VAR_047818
VAR_047818 disease not phenotype-associated
VAR_047819 commonName VAR_047819
VAR_047819 disease not phenotype-associated
VAR_047820 commonName VAR_047820
VAR_047820 disease not phenotype-associated
VAR_047821 commonName VAR_047821
VAR_047821 disease not phenotype-associated
VAR_047822 commonName VAR_047822
VAR_047822 disease not phenotype-associated
VAR_047823 commonName VAR_047823
VAR_047823 disease not phenotype-associated
VAR_047824 commonName VAR_047824
VAR_047824 disease not phenotype-associated
VAR_047825 commonName VAR_047825
VAR_047825 disease not phenotype-associated
VAR_047826 commonName VAR_047826
VAR_047826 disease not phenotype-associated
VAR_047827 commonName VAR_047827
VAR_047827 disease not phenotype-associated
VAR_047828 commonName VAR_047828
VAR_047828 disease not phenotype-associated
VAR_047829 commonName VAR_047829
VAR_047829 disease not phenotype-associated
VAR_047830 commonName VAR_047830
VAR_047830 disease not phenotype-associated
VAR_047831 commonName VAR_047831
VAR_047831 disease not phenotype-associated
VAR_047832 commonName VAR_047832
VAR_047832 disease not phenotype-associated
VAR_047833 commonName VAR_047833
VAR_047833 disease not phenotype-associated
VAR_047834 commonName VAR_047834
VAR_047834 disease not phenotype-associated
VAR_047835 commonName VAR_047835
VAR_047835 disease not phenotype-associated
VAR_047836 commonName VAR_047836
VAR_047836 disease not phenotype-associated
VAR_047837 commonName VAR_047837
VAR_047837 disease not phenotype-associated
VAR_047838 commonName VAR_047838
VAR_047838 disease not phenotype-associated
VAR_047839 commonName VAR_047839
VAR_047839 disease not phenotype-associated
VAR_047840 commonName VAR_047840
VAR_047840 disease not phenotype-associated
VAR_047841 commonName VAR_047841
VAR_047841 disease not phenotype-associated
VAR_047842 commonName VAR_047842
VAR_047842 disease not phenotype-associated
VAR_047843 commonName VAR_047843
VAR_047843 disease not phenotype-associated
VAR_047844 commonName VAR_047844
VAR_047844 disease not phenotype-associated
VAR_047845 commonName VAR_047845
VAR_047845 disease not phenotype-associated
VAR_047846 commonName VAR_047846
VAR_047846 disease not phenotype-associated
VAR_047847 commonName VAR_047847
VAR_047847 disease not phenotype-associated
VAR_047848 commonName VAR_047848
VAR_047848 disease not phenotype-associated
VAR_047849 commonName VAR_047849
VAR_047849 disease not phenotype-associated
VAR_047850 commonName VAR_047850
VAR_047850 disease not phenotype-associated
VAR_047851 commonName VAR_047851
VAR_047851 disease not phenotype-associated
VAR_047856 commonName VAR_047856
VAR_047856 disease phenotype-associated
VAR_047856 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
VAR_047857 commonName VAR_047857
VAR_047857 disease phenotype-associated
VAR_047857 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
VAR_047858 commonName VAR_047858
VAR_047858 disease phenotype-associated
VAR_047858 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
VAR_047859 commonName VAR_047859
VAR_047859 disease phenotype-associated
VAR_047859 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
VAR_047860 commonName VAR_047860
VAR_047860 disease phenotype-associated
VAR_047860 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047861 commonName VAR_047861
VAR_047861 disease phenotype-associated
VAR_047861 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047862 commonName VAR_047862
VAR_047862 disease phenotype-associated
VAR_047862 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047863 commonName VAR_047863
VAR_047863 disease phenotype-associated
VAR_047863 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047864 commonName VAR_047864
VAR_047864 disease phenotype-associated
VAR_047864 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047865 commonName VAR_047865
VAR_047865 disease phenotype-associated
VAR_047865 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047866 commonName VAR_047866
VAR_047866 disease phenotype-associated
VAR_047866 phenoCommon Aniridia (AN) [MIM:106210]
VAR_047867 commonName VAR_047867
VAR_047868 commonName VAR_047868
VAR_047868 disease not phenotype-associated
VAR_047869 commonName VAR_047869
VAR_047869 disease phenotype-associated
VAR_047869 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]
VAR_047870 commonName VAR_047870
VAR_047870 disease phenotype-associated
VAR_047870 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]
VAR_047871 commonName VAR_047871
VAR_047871 disease not phenotype-associated
VAR_047872 commonName VAR_047872
VAR_047872 disease not phenotype-associated
VAR_047875 commonName VAR_047875
VAR_047875 disease not phenotype-associated
VAR_047876 commonName VAR_047876
VAR_047876 disease not phenotype-associated
VAR_047877 commonName VAR_047877
VAR_047877 disease not phenotype-associated
VAR_047878 commonName VAR_047878
VAR_047878 disease not phenotype-associated
VAR_047879 commonName VAR_047879
VAR_047879 disease not phenotype-associated
VAR_047880 commonName VAR_047880
VAR_047880 disease not phenotype-associated
VAR_047881 commonName VAR_047881
VAR_047881 disease not phenotype-associated
VAR_047882 commonName VAR_047882
VAR_047882 disease not phenotype-associated
VAR_047883 commonName VAR_047883
VAR_047883 disease not phenotype-associated
VAR_047884 commonName VAR_047884
VAR_047884 disease not phenotype-associated
VAR_047885 commonName VAR_047885
VAR_047885 disease not phenotype-associated
VAR_047886 commonName VAR_047886
VAR_047886 disease not phenotype-associated
VAR_047887 commonName VAR_047887
VAR_047887 disease not phenotype-associated
VAR_047888 commonName VAR_047888
VAR_047888 disease not phenotype-associated
VAR_047889 commonName VAR_047889
VAR_047889 disease not phenotype-associated
VAR_047890 commonName VAR_047890
VAR_047890 disease not phenotype-associated
VAR_047891 commonName VAR_047891
VAR_047891 disease not phenotype-associated
VAR_047892 commonName VAR_047892
VAR_047892 disease not phenotype-associated
VAR_047893 commonName VAR_047893
VAR_047893 disease not phenotype-associated
VAR_047894 commonName VAR_047894
VAR_047894 disease not phenotype-associated
VAR_047895 commonName VAR_047895
VAR_047895 disease not phenotype-associated
VAR_047897 commonName VAR_047897
VAR_047897 disease not phenotype-associated
VAR_047898 commonName VAR_047898
VAR_047898 disease not phenotype-associated
VAR_047899 commonName VAR_047899
VAR_047899 disease not phenotype-associated
VAR_047900 commonName VAR_047900
VAR_047900 disease not phenotype-associated
VAR_047902 commonName VAR_047902
VAR_047902 disease not phenotype-associated
VAR_047903 commonName VAR_047903
VAR_047903 disease not phenotype-associated
VAR_047904 commonName VAR_047904
VAR_047904 disease not phenotype-associated
VAR_047905 commonName VAR_047905
VAR_047905 disease not phenotype-associated
VAR_047906 commonName VAR_047906
VAR_047906 disease not phenotype-associated
VAR_047907 commonName VAR_047907
VAR_047907 disease not phenotype-associated
VAR_047908 commonName VAR_047908
VAR_047908 disease not phenotype-associated
VAR_047909 commonName VAR_047909
VAR_047909 disease not phenotype-associated
VAR_047910 commonName VAR_047910
VAR_047910 disease not phenotype-associated
VAR_047911 commonName VAR_047911
VAR_047911 disease not phenotype-associated
VAR_047912 commonName VAR_047912
VAR_047912 disease not phenotype-associated
VAR_047913 commonName VAR_047913
VAR_047913 disease not phenotype-associated
VAR_047914 commonName VAR_047914
VAR_047914 disease not phenotype-associated
VAR_047915 commonName VAR_047915
VAR_047915 disease not phenotype-associated
VAR_047917 commonName VAR_047917
VAR_047917 disease not phenotype-associated
VAR_047918 commonName VAR_047918
VAR_047918 disease not phenotype-associated
VAR_047919 commonName VAR_047919
VAR_047919 disease not phenotype-associated
VAR_047920 commonName VAR_047920
VAR_047920 disease not phenotype-associated
VAR_047921 commonName VAR_047921
VAR_047921 disease not phenotype-associated
VAR_047922 commonName VAR_047922
VAR_047922 disease not phenotype-associated
VAR_047924 commonName VAR_047924
VAR_047924 disease not phenotype-associated
VAR_047925 commonName VAR_047925
VAR_047925 disease not phenotype-associated
VAR_047926 commonName VAR_047926
VAR_047926 disease not phenotype-associated
VAR_047927 commonName VAR_047927
VAR_047927 disease not phenotype-associated
VAR_047928 commonName VAR_047928
VAR_047928 disease not phenotype-associated
VAR_047929 commonName VAR_047929
VAR_047929 disease not phenotype-associated
VAR_047930 commonName VAR_047930
VAR_047930 disease not phenotype-associated
VAR_047931 commonName VAR_047931
VAR_047931 disease not phenotype-associated
VAR_047932 commonName VAR_047932
VAR_047932 disease not phenotype-associated
VAR_047934 commonName VAR_047934
VAR_047934 disease not phenotype-associated
VAR_047935 commonName VAR_047935
VAR_047935 disease not phenotype-associated
VAR_047936 commonName VAR_047936
VAR_047936 disease not phenotype-associated
VAR_047937 commonName VAR_047937
VAR_047937 disease not phenotype-associated
VAR_047938 commonName VAR_047938
VAR_047938 disease phenotype-associated
VAR_047938 phenoCommon Parkinson disease type 15 (PARK15) [MIM:260300]
VAR_047940 commonName VAR_047940
VAR_047940 disease phenotype-associated
VAR_047940 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356]
VAR_047941 commonName VAR_047941
VAR_047941 disease phenotype-associated
VAR_047941 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356]
VAR_047942 commonName VAR_047942
VAR_047942 disease phenotype-associated
VAR_047942 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356]
VAR_047943 commonName VAR_047943
VAR_047943 disease phenotype-associated
VAR_047943 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356]
VAR_047944 commonName VAR_047944
VAR_047944 disease phenotype-associated
VAR_047944 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356]
VAR_047947 commonName VAR_047947
VAR_047947 disease phenotype-associated
VAR_047947 phenoCommon Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]
VAR_047948 commonName VAR_047948
VAR_047949 commonName VAR_047949
VAR_047950 commonName VAR_047950
VAR_047951 commonName VAR_047951
VAR_047951 disease not phenotype-associated
VAR_047953 commonName VAR_047953
VAR_047953 disease phenotype-associated
VAR_047953 phenoCommon MYD88 deficiency (MYD88D) [MIM:612260]
VAR_047954 commonName VAR_047954
VAR_047954 disease phenotype-associated
VAR_047954 phenoCommon MYD88 deficiency (MYD88D) [MIM:612260]
VAR_047955 commonName VAR_047955
VAR_047955 disease not phenotype-associated
VAR_047956 commonName VAR_047956
VAR_047956 disease not phenotype-associated
VAR_047957 commonName VAR_047957
VAR_047957 disease phenotype-associated
VAR_047957 phenoCommon Childhood absence epilepsy type 5 (ECA5) [MIM:612269]
VAR_047958 commonName VAR_047958
VAR_047958 disease not phenotype-associated
VAR_047959 commonName VAR_047959
VAR_047960 commonName VAR_047960
VAR_047960 disease not phenotype-associated
VAR_047961 commonName VAR_047961
VAR_047961 disease not phenotype-associated
VAR_047962 commonName VAR_047962
VAR_047962 disease not phenotype-associated
VAR_047963 commonName VAR_047963
VAR_047963 disease not phenotype-associated
VAR_047964 commonName VAR_047964
VAR_047964 disease not phenotype-associated
VAR_047965 commonName VAR_047965
VAR_047965 disease not phenotype-associated
VAR_047967 commonName VAR_047967
VAR_047967 disease not phenotype-associated
VAR_047968 commonName VAR_047968
VAR_047968 disease not phenotype-associated
VAR_047969 commonName VAR_047969
VAR_047969 disease not phenotype-associated
VAR_047970 commonName VAR_047970
VAR_047970 disease not phenotype-associated
VAR_047971 commonName VAR_047971
VAR_047971 disease not phenotype-associated
VAR_047972 commonName VAR_047972
VAR_047972 disease not phenotype-associated
VAR_047975 commonName VAR_047975
VAR_047975 disease not phenotype-associated
VAR_047976 commonName VAR_047976
VAR_047976 disease not phenotype-associated
VAR_047977 commonName VAR_047977
VAR_047977 disease not phenotype-associated
VAR_047978 commonName VAR_047978
VAR_047978 disease not phenotype-associated
VAR_047979 commonName VAR_047979
VAR_047979 disease not phenotype-associated
VAR_047980 commonName VAR_047980
VAR_047980 disease not phenotype-associated
VAR_047981 commonName VAR_047981
VAR_047981 disease not phenotype-associated
VAR_047982 commonName VAR_047982
VAR_047982 disease not phenotype-associated
VAR_047983 commonName VAR_047983
VAR_047983 disease not phenotype-associated
VAR_047984 commonName VAR_047984
VAR_047984 disease not phenotype-associated
VAR_047985 commonName VAR_047985
VAR_047985 disease not phenotype-associated
VAR_047986 commonName VAR_047986
VAR_047986 disease not phenotype-associated
VAR_047987 commonName VAR_047987
VAR_047987 disease not phenotype-associated
VAR_047988 commonName VAR_047988
VAR_047988 disease not phenotype-associated
VAR_047989 commonName VAR_047989
VAR_047989 disease not phenotype-associated
VAR_047990 commonName VAR_047990
VAR_047990 disease not phenotype-associated
VAR_047991 commonName VAR_047991
VAR_047991 disease not phenotype-associated
VAR_047992 commonName VAR_047992
VAR_047992 disease not phenotype-associated
VAR_047993 commonName VAR_047993
VAR_047993 disease not phenotype-associated
VAR_047994 commonName VAR_047994
VAR_047994 disease not phenotype-associated
VAR_047995 commonName VAR_047995
VAR_047995 disease not phenotype-associated
VAR_047999 commonName VAR_047999
VAR_047999 disease not phenotype-associated
VAR_048000 commonName VAR_048000
VAR_048000 disease not phenotype-associated
VAR_048001 commonName VAR_048001
VAR_048001 disease not phenotype-associated
VAR_048002 commonName VAR_048002
VAR_048002 disease not phenotype-associated
VAR_048003 commonName VAR_048003
VAR_048003 disease not phenotype-associated
VAR_048005 commonName VAR_048005
VAR_048005 disease phenotype-associated
VAR_048005 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048006 commonName VAR_048006
VAR_048006 disease phenotype-associated
VAR_048006 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048007 commonName VAR_048007
VAR_048007 disease phenotype-associated
VAR_048007 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048008 commonName VAR_048008
VAR_048008 disease phenotype-associated
VAR_048008 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048009 commonName VAR_048009
VAR_048009 disease phenotype-associated
VAR_048009 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048010 commonName VAR_048010
VAR_048010 disease phenotype-associated
VAR_048010 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048011 commonName VAR_048011
VAR_048011 disease phenotype-associated
VAR_048011 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048012 commonName VAR_048012
VAR_048012 disease phenotype-associated
VAR_048012 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048013 commonName VAR_048013
VAR_048013 disease phenotype-associated
VAR_048013 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048014 commonName VAR_048014
VAR_048014 disease phenotype-associated
VAR_048014 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048015 commonName VAR_048015
VAR_048015 disease phenotype-associated
VAR_048015 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048016 commonName VAR_048016
VAR_048017 commonName VAR_048017
VAR_048017 disease phenotype-associated
VAR_048017 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048018 commonName VAR_048018
VAR_048018 disease phenotype-associated
VAR_048018 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048019 commonName VAR_048019
VAR_048019 disease phenotype-associated
VAR_048019 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048020 commonName VAR_048020
VAR_048020 disease phenotype-associated
VAR_048020 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
VAR_048021 commonName VAR_048021
VAR_048021 disease phenotype-associated
VAR_048021 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]
VAR_048022 commonName VAR_048022
VAR_048022 disease phenotype-associated
VAR_048022 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]
VAR_048023 commonName VAR_048023
VAR_048023 disease phenotype-associated
VAR_048023 phenoCommon Microtia hearing impairment and cleft palate (MHICP) [MIM:612290]
VAR_048024 commonName VAR_048024
VAR_048024 disease not phenotype-associated
VAR_048025 commonName VAR_048025
VAR_048025 disease phenotype-associated
VAR_048025 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_048028 commonName VAR_048028
VAR_048028 disease not phenotype-associated
VAR_048029 commonName VAR_048029
VAR_048029 disease not phenotype-associated
VAR_048030 commonName VAR_048030
VAR_048030 disease not phenotype-associated
VAR_048031 commonName VAR_048031
VAR_048031 disease not phenotype-associated
VAR_048032 commonName VAR_048032
VAR_048032 disease not phenotype-associated
VAR_048033 commonName VAR_048033
VAR_048033 disease not phenotype-associated
VAR_048034 commonName VAR_048034
VAR_048034 disease not phenotype-associated
VAR_048035 commonName VAR_048035
VAR_048035 disease not phenotype-associated
VAR_048036 commonName VAR_048036
VAR_048036 disease not phenotype-associated
VAR_048037 commonName VAR_048037
VAR_048037 disease not phenotype-associated
VAR_048038 commonName VAR_048038
VAR_048038 disease not phenotype-associated
VAR_048039 commonName VAR_048039
VAR_048039 disease not phenotype-associated
VAR_048040 commonName VAR_048040
VAR_048040 disease not phenotype-associated
VAR_048041 commonName VAR_048041
VAR_048041 disease not phenotype-associated
VAR_048042 commonName VAR_048042
VAR_048042 disease not phenotype-associated
VAR_048043 commonName VAR_048043
VAR_048043 disease not phenotype-associated
VAR_048044 commonName VAR_048044
VAR_048044 disease not phenotype-associated
VAR_048045 commonName VAR_048045
VAR_048045 disease not phenotype-associated
VAR_048046 commonName VAR_048046
VAR_048046 disease not phenotype-associated
VAR_048047 commonName VAR_048047
VAR_048047 disease not phenotype-associated
VAR_048048 commonName VAR_048048
VAR_048048 disease not phenotype-associated
VAR_048049 commonName VAR_048049
VAR_048049 disease not phenotype-associated
VAR_048050 commonName VAR_048050
VAR_048050 disease not phenotype-associated
VAR_048051 commonName VAR_048051
VAR_048051 disease not phenotype-associated
VAR_048052 commonName VAR_048052
VAR_048052 disease not phenotype-associated
VAR_048053 commonName VAR_048053
VAR_048053 disease not phenotype-associated
VAR_048054 commonName VAR_048054
VAR_048054 disease not phenotype-associated
VAR_048055 commonName VAR_048055
VAR_048055 disease not phenotype-associated
VAR_048056 commonName VAR_048056
VAR_048056 disease not phenotype-associated
VAR_048057 commonName VAR_048057
VAR_048057 disease not phenotype-associated
VAR_048058 commonName VAR_048058
VAR_048058 disease not phenotype-associated
VAR_048059 commonName VAR_048059
VAR_048059 disease not phenotype-associated
VAR_048060 commonName VAR_048060
VAR_048060 disease not phenotype-associated
VAR_048061 commonName VAR_048061
VAR_048061 disease not phenotype-associated
VAR_048062 commonName VAR_048062
VAR_048062 disease not phenotype-associated
VAR_048063 commonName VAR_048063
VAR_048063 disease not phenotype-associated
VAR_048064 commonName VAR_048064
VAR_048064 disease not phenotype-associated
VAR_048065 commonName VAR_048065
VAR_048065 disease not phenotype-associated
VAR_048066 commonName VAR_048066
VAR_048066 disease not phenotype-associated
VAR_048067 commonName VAR_048067
VAR_048067 disease not phenotype-associated
VAR_048068 commonName VAR_048068
VAR_048068 disease not phenotype-associated
VAR_048069 commonName VAR_048069
VAR_048069 disease not phenotype-associated
VAR_048070 commonName VAR_048070
VAR_048070 disease not phenotype-associated
VAR_048071 commonName VAR_048071
VAR_048071 disease not phenotype-associated
VAR_048072 commonName VAR_048072
VAR_048072 disease not phenotype-associated
VAR_048073 commonName VAR_048073
VAR_048073 disease not phenotype-associated
VAR_048074 commonName VAR_048074
VAR_048074 disease not phenotype-associated
VAR_048075 commonName VAR_048075
VAR_048075 disease not phenotype-associated
VAR_048076 commonName VAR_048076
VAR_048076 disease not phenotype-associated
VAR_048077 commonName VAR_048077
VAR_048077 disease not phenotype-associated
VAR_048078 commonName VAR_048078
VAR_048078 disease not phenotype-associated
VAR_048079 commonName VAR_048079
VAR_048079 disease not phenotype-associated
VAR_048080 commonName VAR_048080
VAR_048080 disease not phenotype-associated
VAR_048081 commonName VAR_048081
VAR_048081 disease not phenotype-associated
VAR_048082 commonName VAR_048082
VAR_048082 disease not phenotype-associated
VAR_048083 commonName VAR_048083
VAR_048083 disease not phenotype-associated
VAR_048084 commonName VAR_048084
VAR_048084 disease not phenotype-associated
VAR_048085 commonName VAR_048085
VAR_048085 disease not phenotype-associated
VAR_048086 commonName VAR_048086
VAR_048086 disease not phenotype-associated
VAR_048087 commonName VAR_048087
VAR_048087 disease not phenotype-associated
VAR_048088 commonName VAR_048088
VAR_048088 disease not phenotype-associated
VAR_048089 commonName VAR_048089
VAR_048089 disease not phenotype-associated
VAR_048090 commonName VAR_048090
VAR_048090 disease not phenotype-associated
VAR_048094 commonName VAR_048094
VAR_048094 disease not phenotype-associated
VAR_048095 commonName VAR_048095
VAR_048095 disease not phenotype-associated
VAR_048096 commonName VAR_048096
VAR_048096 disease not phenotype-associated
VAR_048097 commonName VAR_048097
VAR_048097 disease not phenotype-associated
VAR_048098 commonName VAR_048098
VAR_048098 disease not phenotype-associated
VAR_048099 commonName VAR_048099
VAR_048099 disease not phenotype-associated
VAR_048100 commonName VAR_048100
VAR_048100 disease not phenotype-associated
VAR_048101 commonName VAR_048101
VAR_048101 disease not phenotype-associated
VAR_048102 commonName VAR_048102
VAR_048102 disease not phenotype-associated
VAR_048103 commonName VAR_048103
VAR_048103 disease not phenotype-associated
VAR_048104 commonName VAR_048104
VAR_048104 disease not phenotype-associated
VAR_048105 commonName VAR_048105
VAR_048105 disease not phenotype-associated
VAR_048106 commonName VAR_048106
VAR_048106 disease not phenotype-associated
VAR_048107 commonName VAR_048107
VAR_048107 disease not phenotype-associated
VAR_048108 commonName VAR_048108
VAR_048108 disease not phenotype-associated
VAR_048109 commonName VAR_048109
VAR_048109 disease not phenotype-associated
VAR_048110 commonName VAR_048110
VAR_048110 disease not phenotype-associated
VAR_048111 commonName VAR_048111
VAR_048111 disease not phenotype-associated
VAR_048112 commonName VAR_048112
VAR_048112 disease not phenotype-associated
VAR_048113 commonName VAR_048113
VAR_048113 disease not phenotype-associated
VAR_048114 commonName VAR_048114
VAR_048114 disease not phenotype-associated
VAR_048115 commonName VAR_048115
VAR_048115 disease not phenotype-associated
VAR_048116 commonName VAR_048116
VAR_048116 disease not phenotype-associated
VAR_048117 commonName VAR_048117
VAR_048117 disease not phenotype-associated
VAR_048118 commonName VAR_048118
VAR_048118 disease not phenotype-associated
VAR_048119 commonName VAR_048119
VAR_048119 disease not phenotype-associated
VAR_048120 commonName VAR_048120
VAR_048120 disease not phenotype-associated
VAR_048121 commonName VAR_048121
VAR_048121 disease not phenotype-associated
VAR_048122 commonName VAR_048122
VAR_048122 disease not phenotype-associated
VAR_048123 commonName VAR_048123
VAR_048123 disease not phenotype-associated
VAR_048124 commonName VAR_048124
VAR_048124 disease not phenotype-associated
VAR_048125 commonName VAR_048125
VAR_048125 disease not phenotype-associated
VAR_048126 commonName VAR_048126
VAR_048126 disease not phenotype-associated
VAR_048127 commonName VAR_048127
VAR_048127 disease not phenotype-associated
VAR_048128 commonName VAR_048128
VAR_048128 disease not phenotype-associated
VAR_048130 commonName VAR_048130
VAR_048130 disease not phenotype-associated
VAR_048131 commonName VAR_048131
VAR_048131 disease not phenotype-associated
VAR_048132 commonName VAR_048132
VAR_048132 disease not phenotype-associated
VAR_048133 commonName VAR_048133
VAR_048133 disease not phenotype-associated
VAR_048134 commonName VAR_048134
VAR_048134 disease not phenotype-associated
VAR_048135 commonName VAR_048135
VAR_048135 disease not phenotype-associated
VAR_048139 commonName VAR_048139
VAR_048139 disease not phenotype-associated
VAR_048140 commonName VAR_048140
VAR_048140 disease not phenotype-associated
VAR_048141 commonName VAR_048141
VAR_048141 disease not phenotype-associated
VAR_048142 commonName VAR_048142
VAR_048142 disease not phenotype-associated
VAR_048143 commonName VAR_048143
VAR_048143 disease not phenotype-associated
VAR_048144 commonName VAR_048144
VAR_048144 disease not phenotype-associated
VAR_048145 commonName VAR_048145
VAR_048145 disease not phenotype-associated
VAR_048146 commonName VAR_048146
VAR_048146 disease not phenotype-associated
VAR_048147 commonName VAR_048147
VAR_048147 disease not phenotype-associated
VAR_048148 commonName VAR_048148
VAR_048148 disease not phenotype-associated
VAR_048149 commonName VAR_048149
VAR_048149 disease not phenotype-associated
VAR_048150 commonName VAR_048150
VAR_048150 disease not phenotype-associated
VAR_048151 commonName VAR_048151
VAR_048151 disease not phenotype-associated
VAR_048153 commonName VAR_048153
VAR_048153 disease not phenotype-associated
VAR_048154 commonName VAR_048154
VAR_048154 disease not phenotype-associated
VAR_048155 commonName VAR_048155
VAR_048155 disease not phenotype-associated
VAR_048156 commonName VAR_048156
VAR_048156 disease not phenotype-associated
VAR_048157 commonName VAR_048157
VAR_048157 disease not phenotype-associated
VAR_048158 commonName VAR_048158
VAR_048158 disease not phenotype-associated
VAR_048159 commonName VAR_048159
VAR_048159 disease not phenotype-associated
VAR_048160 commonName VAR_048160
VAR_048160 disease not phenotype-associated
VAR_048161 commonName VAR_048161
VAR_048161 disease not phenotype-associated
VAR_048162 commonName VAR_048162
VAR_048162 disease not phenotype-associated
VAR_048163 commonName VAR_048163
VAR_048163 disease not phenotype-associated
VAR_048164 commonName VAR_048164
VAR_048164 disease not phenotype-associated
VAR_048165 commonName VAR_048165
VAR_048165 disease not phenotype-associated
VAR_048167 commonName VAR_048167
VAR_048167 disease not phenotype-associated
VAR_048168 commonName VAR_048168
VAR_048168 disease not phenotype-associated
VAR_048169 commonName VAR_048169
VAR_048169 disease not phenotype-associated
VAR_048170 commonName VAR_048170
VAR_048170 disease not phenotype-associated
VAR_048171 commonName VAR_048171
VAR_048171 disease not phenotype-associated
VAR_048173 commonName VAR_048173
VAR_048173 disease not phenotype-associated
VAR_048174 commonName VAR_048174
VAR_048174 disease not phenotype-associated
VAR_048175 commonName VAR_048175
VAR_048175 disease not phenotype-associated
VAR_048176 commonName VAR_048176
VAR_048176 disease not phenotype-associated
VAR_048177 commonName VAR_048177
VAR_048177 disease not phenotype-associated
VAR_048178 commonName VAR_048178
VAR_048178 disease not phenotype-associated
VAR_048180 commonName VAR_048180
VAR_048180 disease not phenotype-associated
VAR_048181 commonName VAR_048181
VAR_048181 disease not phenotype-associated
VAR_048182 commonName VAR_048182
VAR_048182 disease not phenotype-associated
VAR_048183 commonName VAR_048183
VAR_048183 disease not phenotype-associated
VAR_048184 commonName VAR_048184
VAR_048184 disease not phenotype-associated
VAR_048185 commonName VAR_048185
VAR_048185 disease not phenotype-associated
VAR_048186 commonName VAR_048186
VAR_048186 disease not phenotype-associated
VAR_048187 commonName VAR_048187
VAR_048187 disease not phenotype-associated
VAR_048188 commonName VAR_048188
VAR_048188 disease not phenotype-associated
VAR_048189 commonName VAR_048189
VAR_048189 disease not phenotype-associated
VAR_048190 commonName VAR_048190
VAR_048190 disease not phenotype-associated
VAR_048191 commonName VAR_048191
VAR_048191 disease not phenotype-associated
VAR_048192 commonName VAR_048192
VAR_048192 disease not phenotype-associated
VAR_048193 commonName VAR_048193
VAR_048193 disease not phenotype-associated
VAR_048194 commonName VAR_048194
VAR_048194 disease not phenotype-associated
VAR_048195 commonName VAR_048195
VAR_048195 disease not phenotype-associated
VAR_048196 commonName VAR_048196
VAR_048196 disease not phenotype-associated
VAR_048197 commonName VAR_048197
VAR_048197 disease not phenotype-associated
VAR_048198 commonName VAR_048198
VAR_048198 disease not phenotype-associated
VAR_048200 commonName VAR_048200
VAR_048200 disease not phenotype-associated
VAR_048201 commonName VAR_048201
VAR_048201 disease not phenotype-associated
VAR_048203 commonName VAR_048203
VAR_048203 disease not phenotype-associated
VAR_048204 commonName VAR_048204
VAR_048204 disease not phenotype-associated
VAR_048205 commonName VAR_048205
VAR_048205 disease not phenotype-associated
VAR_048206 commonName VAR_048206
VAR_048206 disease not phenotype-associated
VAR_048207 commonName VAR_048207
VAR_048207 disease not phenotype-associated
VAR_048208 commonName VAR_048208
VAR_048208 disease not phenotype-associated
VAR_048209 commonName VAR_048209
VAR_048209 disease not phenotype-associated
VAR_048210 commonName VAR_048210
VAR_048210 disease not phenotype-associated
VAR_048212 commonName VAR_048212
VAR_048212 disease not phenotype-associated
VAR_048213 commonName VAR_048213
VAR_048213 disease not phenotype-associated
VAR_048214 commonName VAR_048214
VAR_048214 disease not phenotype-associated
VAR_048215 commonName VAR_048215
VAR_048215 disease not phenotype-associated
VAR_048216 commonName VAR_048216
VAR_048216 disease not phenotype-associated
VAR_048217 commonName VAR_048217
VAR_048217 disease not phenotype-associated
VAR_048218 commonName VAR_048218
VAR_048218 disease not phenotype-associated
VAR_048219 commonName VAR_048219
VAR_048219 disease not phenotype-associated
VAR_048220 commonName VAR_048220
VAR_048220 disease not phenotype-associated
VAR_048221 commonName VAR_048221
VAR_048221 disease not phenotype-associated
VAR_048222 commonName VAR_048222
VAR_048222 disease not phenotype-associated
VAR_048223 commonName VAR_048223
VAR_048223 disease not phenotype-associated
VAR_048224 commonName VAR_048224
VAR_048224 disease not phenotype-associated
VAR_048225 commonName VAR_048225
VAR_048225 disease not phenotype-associated
VAR_048226 commonName VAR_048226
VAR_048226 disease not phenotype-associated
VAR_048227 commonName VAR_048227
VAR_048227 disease not phenotype-associated
VAR_048228 commonName VAR_048228
VAR_048228 disease not phenotype-associated
VAR_048229 commonName VAR_048229
VAR_048229 disease not phenotype-associated
VAR_048230 commonName VAR_048230
VAR_048230 disease not phenotype-associated
VAR_048231 commonName VAR_048231
VAR_048231 disease not phenotype-associated
VAR_048232 commonName VAR_048232
VAR_048232 disease not phenotype-associated
VAR_048233 commonName VAR_048233
VAR_048233 disease not phenotype-associated
VAR_048234 commonName VAR_048234
VAR_048234 disease not phenotype-associated
VAR_048235 commonName VAR_048235
VAR_048235 disease not phenotype-associated
VAR_048236 commonName VAR_048236
VAR_048236 disease not phenotype-associated
VAR_048238 commonName VAR_048238
VAR_048238 disease not phenotype-associated
VAR_048239 commonName VAR_048239
VAR_048239 disease not phenotype-associated
VAR_048240 commonName VAR_048240
VAR_048240 disease not phenotype-associated
VAR_048241 commonName VAR_048241
VAR_048241 disease not phenotype-associated
VAR_048242 commonName VAR_048242
VAR_048242 disease not phenotype-associated
VAR_048243 commonName VAR_048243
VAR_048243 disease not phenotype-associated
VAR_048244 commonName VAR_048244
VAR_048244 disease not phenotype-associated
VAR_048245 commonName VAR_048245
VAR_048245 disease not phenotype-associated
VAR_048246 commonName VAR_048246
VAR_048246 disease not phenotype-associated
VAR_048247 commonName VAR_048247
VAR_048247 disease not phenotype-associated
VAR_048248 commonName VAR_048248
VAR_048248 disease not phenotype-associated
VAR_048249 commonName VAR_048249
VAR_048249 disease not phenotype-associated
VAR_048250 commonName VAR_048250
VAR_048250 disease not phenotype-associated
VAR_048251 commonName VAR_048251
VAR_048251 disease not phenotype-associated
VAR_048252 commonName VAR_048252
VAR_048252 disease not phenotype-associated
VAR_048253 commonName VAR_048253
VAR_048253 disease not phenotype-associated
VAR_048254 commonName VAR_048254
VAR_048254 disease not phenotype-associated
VAR_048255 commonName VAR_048255
VAR_048255 disease not phenotype-associated
VAR_048256 commonName VAR_048256
VAR_048256 disease not phenotype-associated
VAR_048257 commonName VAR_048257
VAR_048257 disease not phenotype-associated
VAR_048258 commonName VAR_048258
VAR_048258 disease not phenotype-associated
VAR_048259 commonName VAR_048259
VAR_048259 disease not phenotype-associated
VAR_048260 commonName VAR_048260
VAR_048260 disease not phenotype-associated
VAR_048261 commonName VAR_048261
VAR_048261 disease not phenotype-associated
VAR_048262 commonName VAR_048262
VAR_048262 disease not phenotype-associated
VAR_048263 commonName VAR_048263
VAR_048263 disease not phenotype-associated
VAR_048264 commonName VAR_048264
VAR_048264 disease not phenotype-associated
VAR_048265 commonName VAR_048265
VAR_048265 disease not phenotype-associated
VAR_048266 commonName VAR_048266
VAR_048266 disease not phenotype-associated
VAR_048267 commonName VAR_048267
VAR_048267 disease not phenotype-associated
VAR_048268 commonName VAR_048268
VAR_048268 disease not phenotype-associated
VAR_048271 commonName VAR_048271
VAR_048271 disease not phenotype-associated
VAR_048272 commonName VAR_048272
VAR_048272 disease not phenotype-associated
VAR_048273 commonName VAR_048273
VAR_048273 disease not phenotype-associated
VAR_048274 commonName VAR_048274
VAR_048274 disease not phenotype-associated
VAR_048276 commonName VAR_048276
VAR_048276 disease not phenotype-associated
VAR_048277 commonName VAR_048277
VAR_048277 disease not phenotype-associated
VAR_048278 commonName VAR_048278
VAR_048278 disease not phenotype-associated
VAR_048279 commonName VAR_048279
VAR_048279 disease not phenotype-associated
VAR_048280 commonName VAR_048280
VAR_048280 disease not phenotype-associated
VAR_048281 commonName VAR_048281
VAR_048281 disease not phenotype-associated
VAR_048282 commonName VAR_048282
VAR_048282 disease not phenotype-associated
VAR_048283 commonName VAR_048283
VAR_048283 disease not phenotype-associated
VAR_048285 commonName VAR_048285
VAR_048285 disease not phenotype-associated
VAR_048286 commonName VAR_048286
VAR_048286 disease not phenotype-associated
VAR_048287 commonName VAR_048287
VAR_048287 disease not phenotype-associated
VAR_048288 commonName VAR_048288
VAR_048288 disease not phenotype-associated
VAR_048289 commonName VAR_048289
VAR_048289 disease not phenotype-associated
VAR_048290 commonName VAR_048290
VAR_048290 disease not phenotype-associated
VAR_048294 commonName VAR_048294
VAR_048294 disease not phenotype-associated
VAR_048295 commonName VAR_048295
VAR_048295 disease not phenotype-associated
VAR_048296 commonName VAR_048296
VAR_048296 disease not phenotype-associated
VAR_048297 commonName VAR_048297
VAR_048297 disease not phenotype-associated
VAR_048298 commonName VAR_048298
VAR_048298 disease not phenotype-associated
VAR_048299 commonName VAR_048299
VAR_048299 disease not phenotype-associated
VAR_048300 commonName VAR_048300
VAR_048300 disease not phenotype-associated
VAR_048301 commonName VAR_048301
VAR_048301 disease not phenotype-associated
VAR_048304 commonName VAR_048304
VAR_048304 disease not phenotype-associated
VAR_048305 commonName VAR_048305
VAR_048305 disease not phenotype-associated
VAR_048306 commonName VAR_048306
VAR_048306 disease not phenotype-associated
VAR_048307 commonName VAR_048307
VAR_048307 disease not phenotype-associated
VAR_048308 commonName VAR_048308
VAR_048308 disease not phenotype-associated
VAR_048309 commonName VAR_048309
VAR_048309 disease not phenotype-associated
VAR_048310 commonName VAR_048310
VAR_048310 disease not phenotype-associated
VAR_048311 commonName VAR_048311
VAR_048311 disease not phenotype-associated
VAR_048312 commonName VAR_048312
VAR_048312 disease not phenotype-associated
VAR_048313 commonName VAR_048313
VAR_048313 disease not phenotype-associated
VAR_048314 commonName VAR_048314
VAR_048314 disease not phenotype-associated
VAR_048316 commonName VAR_048316
VAR_048316 disease not phenotype-associated
VAR_048317 commonName VAR_048317
VAR_048317 disease not phenotype-associated
VAR_048318 commonName VAR_048318
VAR_048318 disease not phenotype-associated
VAR_048320 commonName VAR_048320
VAR_048320 disease not phenotype-associated
VAR_048321 commonName VAR_048321
VAR_048321 disease not phenotype-associated
VAR_048322 commonName VAR_048322
VAR_048322 disease not phenotype-associated
VAR_048324 commonName VAR_048324
VAR_048324 disease not phenotype-associated
VAR_048326 commonName VAR_048326
VAR_048326 disease not phenotype-associated
VAR_048328 commonName VAR_048328
VAR_048328 disease not phenotype-associated
VAR_048329 commonName VAR_048329
VAR_048329 disease not phenotype-associated
VAR_048330 commonName VAR_048330
VAR_048330 disease not phenotype-associated
VAR_048331 commonName VAR_048331
VAR_048331 disease not phenotype-associated
VAR_048332 commonName VAR_048332
VAR_048332 disease not phenotype-associated
VAR_048334 commonName VAR_048334
VAR_048334 disease not phenotype-associated
VAR_048335 commonName VAR_048335
VAR_048335 disease not phenotype-associated
VAR_048336 commonName VAR_048336
VAR_048336 disease not phenotype-associated
VAR_048338 commonName VAR_048338
VAR_048338 disease not phenotype-associated
VAR_048339 commonName VAR_048339
VAR_048339 disease not phenotype-associated
VAR_048341 commonName VAR_048341
VAR_048341 disease not phenotype-associated
VAR_048342 commonName VAR_048342
VAR_048342 disease not phenotype-associated
VAR_048343 commonName VAR_048343
VAR_048343 disease not phenotype-associated
VAR_048344 commonName VAR_048344
VAR_048344 disease not phenotype-associated
VAR_048345 commonName VAR_048345
VAR_048345 disease not phenotype-associated
VAR_048346 commonName VAR_048346
VAR_048346 disease not phenotype-associated
VAR_048347 commonName VAR_048347
VAR_048347 disease not phenotype-associated
VAR_048348 commonName VAR_048348
VAR_048348 disease not phenotype-associated
VAR_048349 commonName VAR_048349
VAR_048349 disease not phenotype-associated
VAR_048350 commonName VAR_048350
VAR_048350 disease not phenotype-associated
VAR_048351 commonName VAR_048351
VAR_048351 disease not phenotype-associated
VAR_048352 commonName VAR_048352
VAR_048352 disease not phenotype-associated
VAR_048353 commonName VAR_048353
VAR_048353 disease not phenotype-associated
VAR_048354 commonName VAR_048354
VAR_048354 disease not phenotype-associated
VAR_048355 commonName VAR_048355
VAR_048355 disease not phenotype-associated
VAR_048356 commonName VAR_048356
VAR_048356 disease not phenotype-associated
VAR_048357 commonName VAR_048357
VAR_048357 disease not phenotype-associated
VAR_048358 commonName VAR_048358
VAR_048358 disease not phenotype-associated
VAR_048359 commonName VAR_048359
VAR_048359 disease not phenotype-associated
VAR_048360 commonName VAR_048360
VAR_048360 disease not phenotype-associated
VAR_048361 commonName VAR_048361
VAR_048361 disease not phenotype-associated
VAR_048362 commonName VAR_048362
VAR_048362 disease not phenotype-associated
VAR_048363 commonName VAR_048363
VAR_048363 disease not phenotype-associated
VAR_048364 commonName VAR_048364
VAR_048364 disease not phenotype-associated
VAR_048365 commonName VAR_048365
VAR_048365 disease not phenotype-associated
VAR_048366 commonName VAR_048366
VAR_048366 disease not phenotype-associated
VAR_048367 commonName VAR_048367
VAR_048367 disease not phenotype-associated
VAR_048368 commonName VAR_048368
VAR_048368 disease not phenotype-associated
VAR_048369 commonName VAR_048369
VAR_048369 disease not phenotype-associated
VAR_048370 commonName VAR_048370
VAR_048370 disease not phenotype-associated
VAR_048371 commonName VAR_048371
VAR_048371 disease not phenotype-associated
VAR_048372 commonName VAR_048372
VAR_048372 disease not phenotype-associated
VAR_048373 commonName VAR_048373
VAR_048373 disease not phenotype-associated
VAR_048374 commonName VAR_048374
VAR_048374 disease not phenotype-associated
VAR_048375 commonName VAR_048375
VAR_048375 disease not phenotype-associated
VAR_048376 commonName VAR_048376
VAR_048376 disease not phenotype-associated
VAR_048379 commonName VAR_048379
VAR_048379 disease not phenotype-associated
VAR_048380 commonName VAR_048380
VAR_048380 disease not phenotype-associated
VAR_048381 commonName VAR_048381
VAR_048381 disease not phenotype-associated
VAR_048382 commonName VAR_048382
VAR_048382 disease not phenotype-associated
VAR_048383 commonName VAR_048383
VAR_048383 disease not phenotype-associated
VAR_048384 commonName VAR_048384
VAR_048384 disease not phenotype-associated
VAR_048385 commonName VAR_048385
VAR_048385 disease not phenotype-associated
VAR_048386 commonName VAR_048386
VAR_048386 disease not phenotype-associated
VAR_048387 commonName VAR_048387
VAR_048387 disease not phenotype-associated
VAR_048388 commonName VAR_048388
VAR_048388 disease not phenotype-associated
VAR_048389 commonName VAR_048389
VAR_048389 disease not phenotype-associated
VAR_048390 commonName VAR_048390
VAR_048390 disease not phenotype-associated
VAR_048391 commonName VAR_048391
VAR_048391 disease not phenotype-associated
VAR_048392 commonName VAR_048392
VAR_048392 disease not phenotype-associated
VAR_048393 commonName VAR_048393
VAR_048393 disease not phenotype-associated
VAR_048394 commonName VAR_048394
VAR_048394 disease not phenotype-associated
VAR_048395 commonName VAR_048395
VAR_048395 disease not phenotype-associated
VAR_048396 commonName VAR_048396
VAR_048396 disease not phenotype-associated
VAR_048397 commonName VAR_048397
VAR_048397 disease not phenotype-associated
VAR_048398 commonName VAR_048398
VAR_048398 disease not phenotype-associated
VAR_048399 commonName VAR_048399
VAR_048399 disease not phenotype-associated
VAR_048400 commonName VAR_048400
VAR_048400 disease not phenotype-associated
VAR_048401 commonName VAR_048401
VAR_048401 disease not phenotype-associated
VAR_048402 commonName VAR_048402
VAR_048402 disease not phenotype-associated
VAR_048403 commonName VAR_048403
VAR_048403 disease not phenotype-associated
VAR_048404 commonName VAR_048404
VAR_048404 disease not phenotype-associated
VAR_048405 commonName VAR_048405
VAR_048405 disease not phenotype-associated
VAR_048406 commonName VAR_048406
VAR_048406 disease not phenotype-associated
VAR_048407 commonName VAR_048407
VAR_048407 disease not phenotype-associated
VAR_048408 commonName VAR_048408
VAR_048408 disease not phenotype-associated
VAR_048409 commonName VAR_048409
VAR_048409 disease not phenotype-associated
VAR_048411 commonName VAR_048411
VAR_048411 disease not phenotype-associated
VAR_048412 commonName VAR_048412
VAR_048412 disease not phenotype-associated
VAR_048413 commonName VAR_048413
VAR_048413 disease not phenotype-associated
VAR_048414 commonName VAR_048414
VAR_048414 disease not phenotype-associated
VAR_048416 commonName VAR_048416
VAR_048416 disease not phenotype-associated
VAR_048417 commonName VAR_048417
VAR_048417 disease not phenotype-associated
VAR_048418 commonName VAR_048418
VAR_048418 disease not phenotype-associated
VAR_048419 commonName VAR_048419
VAR_048419 disease not phenotype-associated
VAR_048420 commonName VAR_048420
VAR_048420 disease not phenotype-associated
VAR_048421 commonName VAR_048421
VAR_048421 disease not phenotype-associated
VAR_048422 commonName VAR_048422
VAR_048422 disease not phenotype-associated
VAR_048423 commonName VAR_048423
VAR_048423 disease not phenotype-associated
VAR_048424 commonName VAR_048424
VAR_048424 disease not phenotype-associated
VAR_048425 commonName VAR_048425
VAR_048425 disease not phenotype-associated
VAR_048426 commonName VAR_048426
VAR_048426 disease not phenotype-associated
VAR_048427 commonName VAR_048427
VAR_048427 disease not phenotype-associated
VAR_048428 commonName VAR_048428
VAR_048428 disease not phenotype-associated
VAR_048429 commonName VAR_048429
VAR_048429 disease not phenotype-associated
VAR_048430 commonName VAR_048430
VAR_048430 disease not phenotype-associated
VAR_048431 commonName VAR_048431
VAR_048431 disease not phenotype-associated
VAR_048433 commonName VAR_048433
VAR_048433 disease not phenotype-associated
VAR_048434 commonName VAR_048434
VAR_048434 disease not phenotype-associated
VAR_048435 commonName VAR_048435
VAR_048435 disease not phenotype-associated
VAR_048436 commonName VAR_048436
VAR_048436 disease not phenotype-associated
VAR_048437 commonName VAR_048437
VAR_048437 disease not phenotype-associated
VAR_048438 commonName VAR_048438
VAR_048438 disease not phenotype-associated
VAR_048439 commonName VAR_048439
VAR_048439 disease not phenotype-associated
VAR_048440 commonName VAR_048440
VAR_048440 disease not phenotype-associated
VAR_048441 commonName VAR_048441
VAR_048441 disease not phenotype-associated
VAR_048442 commonName VAR_048442
VAR_048442 disease not phenotype-associated
VAR_048443 commonName VAR_048443
VAR_048443 disease not phenotype-associated
VAR_048444 commonName VAR_048444
VAR_048444 disease not phenotype-associated
VAR_048445 commonName VAR_048445
VAR_048445 disease not phenotype-associated
VAR_048446 commonName VAR_048446
VAR_048446 disease not phenotype-associated
VAR_048447 commonName VAR_048447
VAR_048447 disease not phenotype-associated
VAR_048448 commonName VAR_048448
VAR_048448 disease not phenotype-associated
VAR_048449 commonName VAR_048449
VAR_048449 disease not phenotype-associated
VAR_048450 commonName VAR_048450
VAR_048450 disease not phenotype-associated
VAR_048451 commonName VAR_048451
VAR_048451 disease not phenotype-associated
VAR_048452 commonName VAR_048452
VAR_048452 disease not phenotype-associated
VAR_048453 commonName VAR_048453
VAR_048453 disease not phenotype-associated
VAR_048454 commonName VAR_048454
VAR_048454 disease not phenotype-associated
VAR_048457 commonName VAR_048457
VAR_048457 disease not phenotype-associated
VAR_048458 commonName VAR_048458
VAR_048458 disease not phenotype-associated
VAR_048459 commonName VAR_048459
VAR_048459 disease not phenotype-associated
VAR_048460 commonName VAR_048460
VAR_048460 disease not phenotype-associated
VAR_048461 commonName VAR_048461
VAR_048461 disease not phenotype-associated
VAR_048462 commonName VAR_048462
VAR_048462 disease not phenotype-associated
VAR_048463 commonName VAR_048463
VAR_048463 disease not phenotype-associated
VAR_048464 commonName VAR_048464
VAR_048464 disease not phenotype-associated
VAR_048465 commonName VAR_048465
VAR_048465 disease not phenotype-associated
VAR_048466 commonName VAR_048466
VAR_048466 disease phenotype-associated
VAR_048466 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880]
VAR_048467 commonName VAR_048467
VAR_048467 disease not phenotype-associated
VAR_048468 commonName VAR_048468
VAR_048468 disease not phenotype-associated
VAR_048469 commonName VAR_048469
VAR_048469 disease not phenotype-associated
VAR_048470 commonName VAR_048470
VAR_048470 disease not phenotype-associated
VAR_048471 commonName VAR_048471
VAR_048471 disease not phenotype-associated
VAR_048472 commonName VAR_048472
VAR_048472 disease not phenotype-associated
VAR_048473 commonName VAR_048473
VAR_048473 disease not phenotype-associated
VAR_048474 commonName VAR_048474
VAR_048474 disease not phenotype-associated
VAR_048475 commonName VAR_048475
VAR_048475 disease not phenotype-associated
VAR_048476 commonName VAR_048476
VAR_048476 disease not phenotype-associated
VAR_048477 commonName VAR_048477
VAR_048477 disease not phenotype-associated
VAR_048478 commonName VAR_048478
VAR_048478 disease not phenotype-associated
VAR_048479 commonName VAR_048479
VAR_048479 disease not phenotype-associated
VAR_048480 commonName VAR_048480
VAR_048480 disease not phenotype-associated
VAR_048481 commonName VAR_048481
VAR_048481 disease not phenotype-associated
VAR_048482 commonName VAR_048482
VAR_048482 disease not phenotype-associated
VAR_048483 commonName VAR_048483
VAR_048483 disease not phenotype-associated
VAR_048484 commonName VAR_048484
VAR_048484 disease not phenotype-associated
VAR_048485 commonName VAR_048485
VAR_048485 disease not phenotype-associated
VAR_048486 commonName VAR_048486
VAR_048486 disease not phenotype-associated
VAR_048487 commonName VAR_048487
VAR_048487 disease not phenotype-associated
VAR_048488 commonName VAR_048488
VAR_048488 disease not phenotype-associated
VAR_048489 commonName VAR_048489
VAR_048489 disease not phenotype-associated
VAR_048490 commonName VAR_048490
VAR_048490 disease not phenotype-associated
VAR_048491 commonName VAR_048491
VAR_048491 disease not phenotype-associated
VAR_048492 commonName VAR_048492
VAR_048492 disease not phenotype-associated
VAR_048493 commonName VAR_048493
VAR_048493 disease not phenotype-associated
VAR_048494 commonName VAR_048494
VAR_048494 disease not phenotype-associated
VAR_048495 commonName VAR_048495
VAR_048495 disease not phenotype-associated
VAR_048496 commonName VAR_048496
VAR_048496 disease not phenotype-associated
VAR_048497 commonName VAR_048497
VAR_048497 disease not phenotype-associated
VAR_048498 commonName VAR_048498
VAR_048498 disease not phenotype-associated
VAR_048499 commonName VAR_048499
VAR_048499 disease not phenotype-associated
VAR_048500 commonName VAR_048500
VAR_048500 disease not phenotype-associated
VAR_048501 commonName VAR_048501
VAR_048501 disease not phenotype-associated
VAR_048502 commonName VAR_048502
VAR_048502 disease not phenotype-associated
VAR_048503 commonName VAR_048503
VAR_048503 disease not phenotype-associated
VAR_048504 commonName VAR_048504
VAR_048504 disease not phenotype-associated
VAR_048505 commonName VAR_048505
VAR_048505 disease not phenotype-associated
VAR_048506 commonName VAR_048506
VAR_048506 disease not phenotype-associated
VAR_048507 commonName VAR_048507
VAR_048507 disease not phenotype-associated
VAR_048508 commonName VAR_048508
VAR_048508 disease not phenotype-associated
VAR_048509 commonName VAR_048509
VAR_048509 disease not phenotype-associated
VAR_048510 commonName VAR_048510
VAR_048510 disease not phenotype-associated
VAR_048511 commonName VAR_048511
VAR_048511 disease not phenotype-associated
VAR_048512 commonName VAR_048512
VAR_048512 disease not phenotype-associated
VAR_048513 commonName VAR_048513
VAR_048513 disease not phenotype-associated
VAR_048514 commonName VAR_048514
VAR_048514 disease not phenotype-associated
VAR_048515 commonName VAR_048515
VAR_048515 disease not phenotype-associated
VAR_048516 commonName VAR_048516
VAR_048516 disease not phenotype-associated
VAR_048517 commonName VAR_048517
VAR_048517 disease not phenotype-associated
VAR_048518 commonName VAR_048518
VAR_048518 disease not phenotype-associated
VAR_048519 commonName VAR_048519
VAR_048519 disease not phenotype-associated
VAR_048520 commonName VAR_048520
VAR_048520 disease not phenotype-associated
VAR_048521 commonName VAR_048521
VAR_048521 disease not phenotype-associated
VAR_048522 commonName VAR_048522
VAR_048522 disease not phenotype-associated
VAR_048523 commonName VAR_048523
VAR_048523 disease not phenotype-associated
VAR_048524 commonName VAR_048524
VAR_048524 disease not phenotype-associated
VAR_048525 commonName VAR_048525
VAR_048525 disease not phenotype-associated
VAR_048526 commonName VAR_048526
VAR_048526 disease not phenotype-associated
VAR_048527 commonName VAR_048527
VAR_048527 disease not phenotype-associated
VAR_048528 commonName VAR_048528
VAR_048528 disease not phenotype-associated
VAR_048529 commonName VAR_048529
VAR_048529 disease not phenotype-associated
VAR_048530 commonName VAR_048530
VAR_048530 disease not phenotype-associated
VAR_048531 commonName VAR_048531
VAR_048531 disease not phenotype-associated
VAR_048532 commonName VAR_048532
VAR_048532 disease not phenotype-associated
VAR_048533 commonName VAR_048533
VAR_048533 disease not phenotype-associated
VAR_048534 commonName VAR_048534
VAR_048534 disease not phenotype-associated
VAR_048535 commonName VAR_048535
VAR_048535 disease not phenotype-associated
VAR_048536 commonName VAR_048536
VAR_048536 disease not phenotype-associated
VAR_048537 commonName VAR_048537
VAR_048537 disease not phenotype-associated
VAR_048538 commonName VAR_048538
VAR_048538 disease not phenotype-associated
VAR_048539 commonName VAR_048539
VAR_048539 disease not phenotype-associated
VAR_048540 commonName VAR_048540
VAR_048540 disease not phenotype-associated
VAR_048541 commonName VAR_048541
VAR_048541 disease not phenotype-associated
VAR_048542 commonName VAR_048542
VAR_048542 disease not phenotype-associated
VAR_048543 commonName VAR_048543
VAR_048543 disease not phenotype-associated
VAR_048544 commonName VAR_048544
VAR_048544 disease not phenotype-associated
VAR_048545 commonName VAR_048545
VAR_048545 disease not phenotype-associated
VAR_048546 commonName VAR_048546
VAR_048546 disease not phenotype-associated
VAR_048547 commonName VAR_048547
VAR_048547 disease not phenotype-associated
VAR_048548 commonName VAR_048548
VAR_048548 disease not phenotype-associated
VAR_048549 commonName VAR_048549
VAR_048549 disease not phenotype-associated
VAR_048550 commonName VAR_048550
VAR_048550 disease not phenotype-associated
VAR_048551 commonName VAR_048551
VAR_048551 disease not phenotype-associated
VAR_048552 commonName VAR_048552
VAR_048552 disease not phenotype-associated
VAR_048553 commonName VAR_048553
VAR_048553 disease not phenotype-associated
VAR_048555 commonName VAR_048555
VAR_048555 disease not phenotype-associated
VAR_048556 commonName VAR_048556
VAR_048556 disease not phenotype-associated
VAR_048557 commonName VAR_048557
VAR_048557 disease not phenotype-associated
VAR_048558 commonName VAR_048558
VAR_048558 disease not phenotype-associated
VAR_048559 commonName VAR_048559
VAR_048559 disease not phenotype-associated
VAR_048560 commonName VAR_048560
VAR_048560 disease not phenotype-associated
VAR_048561 commonName VAR_048561
VAR_048561 disease not phenotype-associated
VAR_048562 commonName VAR_048562
VAR_048562 disease not phenotype-associated
VAR_048563 commonName VAR_048563
VAR_048563 disease not phenotype-associated
VAR_048564 commonName VAR_048564
VAR_048564 disease not phenotype-associated
VAR_048565 commonName VAR_048565
VAR_048565 disease not phenotype-associated
VAR_048566 commonName VAR_048566
VAR_048566 disease not phenotype-associated
VAR_048567 commonName VAR_048567
VAR_048567 disease not phenotype-associated
VAR_048568 commonName VAR_048568
VAR_048568 disease not phenotype-associated
VAR_048569 commonName VAR_048569
VAR_048569 disease not phenotype-associated
VAR_048570 commonName VAR_048570
VAR_048570 disease not phenotype-associated
VAR_048571 commonName VAR_048571
VAR_048571 disease not phenotype-associated
VAR_048572 commonName VAR_048572
VAR_048572 disease not phenotype-associated
VAR_048573 commonName VAR_048573
VAR_048573 disease not phenotype-associated
VAR_048574 commonName VAR_048574
VAR_048574 disease not phenotype-associated
VAR_048575 commonName VAR_048575
VAR_048575 disease not phenotype-associated
VAR_048576 commonName VAR_048576
VAR_048576 disease not phenotype-associated
VAR_048577 commonName VAR_048577
VAR_048577 disease not phenotype-associated
VAR_048578 commonName VAR_048578
VAR_048578 disease not phenotype-associated
VAR_048579 commonName VAR_048579
VAR_048579 disease not phenotype-associated
VAR_048580 commonName VAR_048580
VAR_048580 disease not phenotype-associated
VAR_048581 commonName VAR_048581
VAR_048581 disease not phenotype-associated
VAR_048582 commonName VAR_048582
VAR_048582 disease not phenotype-associated
VAR_048583 commonName VAR_048583
VAR_048583 disease not phenotype-associated
VAR_048584 commonName VAR_048584
VAR_048584 disease not phenotype-associated
VAR_048585 commonName VAR_048585
VAR_048585 disease not phenotype-associated
VAR_048586 commonName VAR_048586
VAR_048586 disease not phenotype-associated
VAR_048587 commonName VAR_048587
VAR_048587 disease not phenotype-associated
VAR_048588 commonName VAR_048588
VAR_048588 disease not phenotype-associated
VAR_048589 commonName VAR_048589
VAR_048589 disease not phenotype-associated
VAR_048590 commonName VAR_048590
VAR_048590 disease not phenotype-associated
VAR_048591 commonName VAR_048591
VAR_048591 disease not phenotype-associated
VAR_048592 commonName VAR_048592
VAR_048592 disease not phenotype-associated
VAR_048593 commonName VAR_048593
VAR_048593 disease not phenotype-associated
VAR_048594 commonName VAR_048594
VAR_048594 disease not phenotype-associated
VAR_048595 commonName VAR_048595
VAR_048595 disease not phenotype-associated
VAR_048596 commonName VAR_048596
VAR_048596 disease not phenotype-associated
VAR_048597 commonName VAR_048597
VAR_048597 disease not phenotype-associated
VAR_048598 commonName VAR_048598
VAR_048598 disease not phenotype-associated
VAR_048599 commonName VAR_048599
VAR_048599 disease not phenotype-associated
VAR_048600 commonName VAR_048600
VAR_048600 disease not phenotype-associated
VAR_048601 commonName VAR_048601
VAR_048601 disease not phenotype-associated
VAR_048602 commonName VAR_048602
VAR_048602 disease not phenotype-associated
VAR_048603 commonName VAR_048603
VAR_048603 disease not phenotype-associated
VAR_048604 commonName VAR_048604
VAR_048604 disease not phenotype-associated
VAR_048605 commonName VAR_048605
VAR_048605 disease not phenotype-associated
VAR_048606 commonName VAR_048606
VAR_048606 disease not phenotype-associated
VAR_048607 commonName VAR_048607
VAR_048607 disease not phenotype-associated
VAR_048608 commonName VAR_048608
VAR_048608 disease not phenotype-associated
VAR_048609 commonName VAR_048609
VAR_048609 disease not phenotype-associated
VAR_048610 commonName VAR_048610
VAR_048610 disease not phenotype-associated
VAR_048611 commonName VAR_048611
VAR_048611 disease not phenotype-associated
VAR_048612 commonName VAR_048612
VAR_048612 disease not phenotype-associated
VAR_048613 commonName VAR_048613
VAR_048613 disease not phenotype-associated
VAR_048614 commonName VAR_048614
VAR_048614 disease not phenotype-associated
VAR_048615 commonName VAR_048615
VAR_048615 disease not phenotype-associated
VAR_048616 commonName VAR_048616
VAR_048616 disease not phenotype-associated
VAR_048617 commonName VAR_048617
VAR_048617 disease not phenotype-associated
VAR_048618 commonName VAR_048618
VAR_048618 disease not phenotype-associated
VAR_048619 commonName VAR_048619
VAR_048619 disease not phenotype-associated
VAR_048620 commonName VAR_048620
VAR_048620 disease not phenotype-associated
VAR_048621 commonName VAR_048621
VAR_048621 disease not phenotype-associated
VAR_048622 commonName VAR_048622
VAR_048622 disease not phenotype-associated
VAR_048623 commonName VAR_048623
VAR_048623 disease not phenotype-associated
VAR_048624 commonName VAR_048624
VAR_048624 disease not phenotype-associated
VAR_048631 commonName VAR_048631
VAR_048631 disease not phenotype-associated
VAR_048632 commonName VAR_048632
VAR_048632 disease not phenotype-associated
VAR_048633 commonName VAR_048633
VAR_048633 disease not phenotype-associated
VAR_048634 commonName VAR_048634
VAR_048634 disease not phenotype-associated
VAR_048635 commonName VAR_048635
VAR_048635 disease not phenotype-associated
VAR_048636 commonName VAR_048636
VAR_048636 disease not phenotype-associated
VAR_048637 commonName VAR_048637
VAR_048637 disease not phenotype-associated
VAR_048638 commonName VAR_048638
VAR_048638 disease not phenotype-associated
VAR_048639 commonName VAR_048639
VAR_048639 disease not phenotype-associated
VAR_048640 commonName VAR_048640
VAR_048640 disease not phenotype-associated
VAR_048643 commonName VAR_048643
VAR_048643 disease not phenotype-associated
VAR_048644 commonName VAR_048644
VAR_048644 disease not phenotype-associated
VAR_048645 commonName VAR_048645
VAR_048645 disease not phenotype-associated
VAR_048646 commonName VAR_048646
VAR_048646 disease not phenotype-associated
VAR_048647 commonName VAR_048647
VAR_048647 disease not phenotype-associated
VAR_048648 commonName VAR_048648
VAR_048648 disease not phenotype-associated
VAR_048649 commonName VAR_048649
VAR_048649 disease not phenotype-associated
VAR_048650 commonName VAR_048650
VAR_048650 disease not phenotype-associated
VAR_048651 commonName VAR_048651
VAR_048651 disease not phenotype-associated
VAR_048652 commonName VAR_048652
VAR_048652 disease not phenotype-associated
VAR_048653 commonName VAR_048653
VAR_048653 disease not phenotype-associated
VAR_048654 commonName VAR_048654
VAR_048654 disease not phenotype-associated
VAR_048655 commonName VAR_048655
VAR_048655 disease not phenotype-associated
VAR_048656 commonName VAR_048656
VAR_048656 disease not phenotype-associated
VAR_048657 commonName VAR_048657
VAR_048657 disease not phenotype-associated
VAR_048659 commonName VAR_048659
VAR_048659 disease not phenotype-associated
VAR_048660 commonName VAR_048660
VAR_048660 disease not phenotype-associated
VAR_048661 commonName VAR_048661
VAR_048661 disease not phenotype-associated
VAR_048662 commonName VAR_048662
VAR_048662 disease not phenotype-associated
VAR_048663 commonName VAR_048663
VAR_048663 disease not phenotype-associated
VAR_048664 commonName VAR_048664
VAR_048664 disease not phenotype-associated
VAR_048666 commonName VAR_048666
VAR_048666 disease not phenotype-associated
VAR_048667 commonName VAR_048667
VAR_048667 disease not phenotype-associated
VAR_048668 commonName VAR_048668
VAR_048668 disease not phenotype-associated
VAR_048669 commonName VAR_048669
VAR_048669 disease not phenotype-associated
VAR_048670 commonName VAR_048670
VAR_048670 disease not phenotype-associated
VAR_048671 commonName VAR_048671
VAR_048671 disease not phenotype-associated
VAR_048672 commonName VAR_048672
VAR_048672 disease not phenotype-associated
VAR_048673 commonName VAR_048673
VAR_048673 disease not phenotype-associated
VAR_048674 commonName VAR_048674
VAR_048674 disease not phenotype-associated
VAR_048677 commonName VAR_048677
VAR_048677 disease not phenotype-associated
VAR_048678 commonName VAR_048678
VAR_048678 disease not phenotype-associated
VAR_048679 commonName VAR_048679
VAR_048679 disease not phenotype-associated
VAR_048680 commonName VAR_048680
VAR_048680 disease not phenotype-associated
VAR_048681 commonName VAR_048681
VAR_048681 disease not phenotype-associated
VAR_048682 commonName VAR_048682
VAR_048682 disease not phenotype-associated
VAR_048683 commonName VAR_048683
VAR_048683 disease not phenotype-associated
VAR_048684 commonName VAR_048684
VAR_048684 disease not phenotype-associated
VAR_048685 commonName VAR_048685
VAR_048685 disease not phenotype-associated
VAR_048686 commonName VAR_048686
VAR_048686 disease not phenotype-associated
VAR_048687 commonName VAR_048687
VAR_048687 disease not phenotype-associated
VAR_048689 commonName VAR_048689
VAR_048689 disease not phenotype-associated
VAR_048690 commonName VAR_048690
VAR_048690 disease not phenotype-associated
VAR_048691 commonName VAR_048691
VAR_048691 disease not phenotype-associated
VAR_048692 commonName VAR_048692
VAR_048692 disease not phenotype-associated
VAR_048693 commonName VAR_048693
VAR_048693 disease not phenotype-associated
VAR_048694 commonName VAR_048694
VAR_048694 disease not phenotype-associated
VAR_048695 commonName VAR_048695
VAR_048695 disease not phenotype-associated
VAR_048696 commonName VAR_048696
VAR_048696 disease not phenotype-associated
VAR_048697 commonName VAR_048697
VAR_048697 disease not phenotype-associated
VAR_048698 commonName VAR_048698
VAR_048698 disease not phenotype-associated
VAR_048699 commonName VAR_048699
VAR_048699 disease not phenotype-associated
VAR_048700 commonName VAR_048700
VAR_048700 disease not phenotype-associated
VAR_048701 commonName VAR_048701
VAR_048701 disease not phenotype-associated
VAR_048702 commonName VAR_048702
VAR_048702 disease not phenotype-associated
VAR_048703 commonName VAR_048703
VAR_048703 disease not phenotype-associated
VAR_048704 commonName VAR_048704
VAR_048704 disease not phenotype-associated
VAR_048705 commonName VAR_048705
VAR_048705 disease not phenotype-associated
VAR_048706 commonName VAR_048706
VAR_048706 disease not phenotype-associated
VAR_048707 commonName VAR_048707
VAR_048707 disease not phenotype-associated
VAR_048708 commonName VAR_048708
VAR_048708 disease not phenotype-associated
VAR_048709 commonName VAR_048709
VAR_048709 disease not phenotype-associated
VAR_048710 commonName VAR_048710
VAR_048710 disease not phenotype-associated
VAR_048711 commonName VAR_048711
VAR_048711 disease not phenotype-associated
VAR_048712 commonName VAR_048712
VAR_048712 disease not phenotype-associated
VAR_048713 commonName VAR_048713
VAR_048713 disease not phenotype-associated
VAR_048714 commonName VAR_048714
VAR_048714 disease not phenotype-associated
VAR_048715 commonName VAR_048715
VAR_048715 disease not phenotype-associated
VAR_048716 commonName VAR_048716
VAR_048716 disease not phenotype-associated
VAR_048719 commonName VAR_048719
VAR_048719 disease not phenotype-associated
VAR_048721 commonName VAR_048721
VAR_048721 disease not phenotype-associated
VAR_048722 commonName VAR_048722
VAR_048722 disease not phenotype-associated
VAR_048723 commonName VAR_048723
VAR_048723 disease not phenotype-associated
VAR_048724 commonName VAR_048724
VAR_048724 disease not phenotype-associated
VAR_048725 commonName VAR_048725
VAR_048725 disease not phenotype-associated
VAR_048726 commonName VAR_048726
VAR_048726 disease not phenotype-associated
VAR_048727 commonName VAR_048727
VAR_048727 disease not phenotype-associated
VAR_048728 commonName VAR_048728
VAR_048728 disease not phenotype-associated
VAR_048729 commonName VAR_048729
VAR_048729 disease not phenotype-associated
VAR_048730 commonName VAR_048730
VAR_048730 disease not phenotype-associated
VAR_048731 commonName VAR_048731
VAR_048731 disease not phenotype-associated
VAR_048732 commonName VAR_048732
VAR_048732 disease not phenotype-associated
VAR_048733 commonName VAR_048733
VAR_048733 disease not phenotype-associated
VAR_048736 commonName VAR_048736
VAR_048736 disease not phenotype-associated
VAR_048737 commonName VAR_048737
VAR_048737 disease not phenotype-associated
VAR_048738 commonName VAR_048738
VAR_048738 disease not phenotype-associated
VAR_048739 commonName VAR_048739
VAR_048739 disease not phenotype-associated
VAR_048740 commonName VAR_048740
VAR_048740 disease not phenotype-associated
VAR_048741 commonName VAR_048741
VAR_048741 disease not phenotype-associated
VAR_048742 commonName VAR_048742
VAR_048742 disease not phenotype-associated
VAR_048743 commonName VAR_048743
VAR_048743 disease not phenotype-associated
VAR_048745 commonName VAR_048745
VAR_048745 disease not phenotype-associated
VAR_048746 commonName VAR_048746
VAR_048746 disease not phenotype-associated
VAR_048747 commonName VAR_048747
VAR_048747 disease not phenotype-associated
VAR_048748 commonName VAR_048748
VAR_048748 disease not phenotype-associated
VAR_048749 commonName VAR_048749
VAR_048749 disease not phenotype-associated
VAR_048750 commonName VAR_048750
VAR_048750 disease not phenotype-associated
VAR_048751 commonName VAR_048751
VAR_048751 disease not phenotype-associated
VAR_048752 commonName VAR_048752
VAR_048752 disease not phenotype-associated
VAR_048753 commonName VAR_048753
VAR_048753 disease not phenotype-associated
VAR_048754 commonName VAR_048754
VAR_048754 disease not phenotype-associated
VAR_048755 commonName VAR_048755
VAR_048755 disease not phenotype-associated
VAR_048756 commonName VAR_048756
VAR_048756 disease not phenotype-associated
VAR_048757 commonName VAR_048757
VAR_048757 disease not phenotype-associated
VAR_048758 commonName VAR_048758
VAR_048758 disease not phenotype-associated
VAR_048759 commonName VAR_048759
VAR_048759 disease not phenotype-associated
VAR_048760 commonName VAR_048760
VAR_048760 disease not phenotype-associated
VAR_048761 commonName VAR_048761
VAR_048761 disease not phenotype-associated
VAR_048762 commonName VAR_048762
VAR_048762 disease not phenotype-associated
VAR_048763 commonName VAR_048763
VAR_048763 disease not phenotype-associated
VAR_048764 commonName VAR_048764
VAR_048764 disease not phenotype-associated
VAR_048765 commonName VAR_048765
VAR_048765 disease not phenotype-associated
VAR_048766 commonName VAR_048766
VAR_048766 disease not phenotype-associated
VAR_048767 commonName VAR_048767
VAR_048767 disease not phenotype-associated
VAR_048768 commonName VAR_048768
VAR_048768 disease not phenotype-associated
VAR_048769 commonName VAR_048769
VAR_048769 disease not phenotype-associated
VAR_048770 commonName VAR_048770
VAR_048770 disease not phenotype-associated
VAR_048771 commonName VAR_048771
VAR_048771 disease not phenotype-associated
VAR_048772 commonName VAR_048772
VAR_048772 disease not phenotype-associated
VAR_048773 commonName VAR_048773
VAR_048773 disease not phenotype-associated
VAR_048774 commonName VAR_048774
VAR_048774 disease not phenotype-associated
VAR_048775 commonName VAR_048775
VAR_048775 disease not phenotype-associated
VAR_048776 commonName VAR_048776
VAR_048776 disease not phenotype-associated
VAR_048777 commonName VAR_048777
VAR_048777 disease not phenotype-associated
VAR_048778 commonName VAR_048778
VAR_048778 disease not phenotype-associated
VAR_048779 commonName VAR_048779
VAR_048779 disease not phenotype-associated
VAR_048780 commonName VAR_048780
VAR_048780 disease not phenotype-associated
VAR_048781 commonName VAR_048781
VAR_048781 disease not phenotype-associated
VAR_048782 commonName VAR_048782
VAR_048782 disease not phenotype-associated
VAR_048783 commonName VAR_048783
VAR_048783 disease not phenotype-associated
VAR_048784 commonName VAR_048784
VAR_048784 disease not phenotype-associated
VAR_048785 commonName VAR_048785
VAR_048785 disease not phenotype-associated
VAR_048786 commonName VAR_048786
VAR_048786 disease not phenotype-associated
VAR_048787 commonName VAR_048787
VAR_048787 disease not phenotype-associated
VAR_048788 commonName VAR_048788
VAR_048788 disease not phenotype-associated
VAR_048789 commonName VAR_048789
VAR_048789 disease not phenotype-associated
VAR_048790 commonName VAR_048790
VAR_048790 disease not phenotype-associated
VAR_048791 commonName VAR_048791
VAR_048791 disease not phenotype-associated
VAR_048792 commonName VAR_048792
VAR_048792 disease not phenotype-associated
VAR_048793 commonName VAR_048793
VAR_048793 disease not phenotype-associated
VAR_048794 commonName VAR_048794
VAR_048794 disease not phenotype-associated
VAR_048795 commonName VAR_048795
VAR_048795 disease not phenotype-associated
VAR_048796 commonName VAR_048796
VAR_048796 disease not phenotype-associated
VAR_048797 commonName VAR_048797
VAR_048797 disease not phenotype-associated
VAR_048799 commonName VAR_048799
VAR_048799 disease not phenotype-associated
VAR_048800 commonName VAR_048800
VAR_048800 disease not phenotype-associated
VAR_048801 commonName VAR_048801
VAR_048801 disease not phenotype-associated
VAR_048802 commonName VAR_048802
VAR_048802 disease not phenotype-associated
VAR_048803 commonName VAR_048803
VAR_048803 disease not phenotype-associated
VAR_048808 commonName VAR_048808
VAR_048808 disease not phenotype-associated
VAR_048809 commonName VAR_048809
VAR_048809 disease not phenotype-associated
VAR_048810 commonName VAR_048810
VAR_048810 disease not phenotype-associated
VAR_048811 commonName VAR_048811
VAR_048811 disease not phenotype-associated
VAR_048812 commonName VAR_048812
VAR_048812 disease not phenotype-associated
VAR_048813 commonName VAR_048813
VAR_048813 disease not phenotype-associated
VAR_048814 commonName VAR_048814
VAR_048814 disease not phenotype-associated
VAR_048815 commonName VAR_048815
VAR_048815 disease not phenotype-associated
VAR_048817 commonName VAR_048817
VAR_048817 disease not phenotype-associated
VAR_048818 commonName VAR_048818
VAR_048818 disease not phenotype-associated
VAR_048819 commonName VAR_048819
VAR_048819 disease not phenotype-associated
VAR_048820 commonName VAR_048820
VAR_048820 disease not phenotype-associated
VAR_048821 commonName VAR_048821
VAR_048821 disease not phenotype-associated
VAR_048822 commonName VAR_048822
VAR_048822 disease not phenotype-associated
VAR_048825 commonName VAR_048825
VAR_048825 disease not phenotype-associated
VAR_048827 commonName VAR_048827
VAR_048827 disease not phenotype-associated
VAR_048828 commonName VAR_048828
VAR_048828 disease not phenotype-associated
VAR_048829 commonName VAR_048829
VAR_048829 disease not phenotype-associated
VAR_048830 commonName VAR_048830
VAR_048830 disease not phenotype-associated
VAR_048831 commonName VAR_048831
VAR_048831 disease not phenotype-associated
VAR_048832 commonName VAR_048832
VAR_048832 disease not phenotype-associated
VAR_048833 commonName VAR_048833
VAR_048833 disease not phenotype-associated
VAR_048834 commonName VAR_048834
VAR_048834 disease not phenotype-associated
VAR_048837 commonName VAR_048837
VAR_048837 disease not phenotype-associated
VAR_048838 commonName VAR_048838
VAR_048838 disease not phenotype-associated
VAR_048839 commonName VAR_048839
VAR_048839 disease not phenotype-associated
VAR_048841 commonName VAR_048841
VAR_048841 disease not phenotype-associated
VAR_048842 commonName VAR_048842
VAR_048842 disease not phenotype-associated
VAR_048848 commonName VAR_048848
VAR_048848 disease not phenotype-associated
VAR_048849 commonName VAR_048849
VAR_048849 disease not phenotype-associated
VAR_048850 commonName VAR_048850
VAR_048850 disease not phenotype-associated
VAR_048851 commonName VAR_048851
VAR_048851 disease not phenotype-associated
VAR_048852 commonName VAR_048852
VAR_048852 disease not phenotype-associated
VAR_048853 commonName VAR_048853
VAR_048853 disease not phenotype-associated
VAR_048854 commonName VAR_048854
VAR_048854 disease not phenotype-associated
VAR_048855 commonName VAR_048855
VAR_048855 disease not phenotype-associated
VAR_048856 commonName VAR_048856
VAR_048856 disease not phenotype-associated
VAR_048857 commonName VAR_048857
VAR_048857 disease not phenotype-associated
VAR_048858 commonName VAR_048858
VAR_048858 disease not phenotype-associated
VAR_048859 commonName VAR_048859
VAR_048859 disease not phenotype-associated
VAR_048861 commonName VAR_048861
VAR_048861 disease not phenotype-associated
VAR_048862 commonName VAR_048862
VAR_048862 disease not phenotype-associated
VAR_048863 commonName VAR_048863
VAR_048863 disease not phenotype-associated
VAR_048864 commonName VAR_048864
VAR_048864 disease not phenotype-associated
VAR_048865 commonName VAR_048865
VAR_048865 disease not phenotype-associated
VAR_048866 commonName VAR_048866
VAR_048866 disease not phenotype-associated
VAR_048867 commonName VAR_048867
VAR_048867 disease not phenotype-associated
VAR_048868 commonName VAR_048868
VAR_048868 disease not phenotype-associated
VAR_048869 commonName VAR_048869
VAR_048869 disease not phenotype-associated
VAR_048870 commonName VAR_048870
VAR_048870 disease not phenotype-associated
VAR_048871 commonName VAR_048871
VAR_048871 disease not phenotype-associated
VAR_048872 commonName VAR_048872
VAR_048872 disease not phenotype-associated
VAR_048873 commonName VAR_048873
VAR_048873 disease not phenotype-associated
VAR_048875 commonName VAR_048875
VAR_048875 disease not phenotype-associated
VAR_048876 commonName VAR_048876
VAR_048876 disease not phenotype-associated
VAR_048877 commonName VAR_048877
VAR_048877 disease not phenotype-associated
VAR_048878 commonName VAR_048878
VAR_048878 disease not phenotype-associated
VAR_048879 commonName VAR_048879
VAR_048879 disease not phenotype-associated
VAR_048880 commonName VAR_048880
VAR_048880 disease not phenotype-associated
VAR_048881 commonName VAR_048881
VAR_048881 disease not phenotype-associated
VAR_048882 commonName VAR_048882
VAR_048882 disease not phenotype-associated
VAR_048883 commonName VAR_048883
VAR_048883 disease not phenotype-associated
VAR_048884 commonName VAR_048884
VAR_048884 disease not phenotype-associated
VAR_048885 commonName VAR_048885
VAR_048885 disease not phenotype-associated
VAR_048886 commonName VAR_048886
VAR_048886 disease not phenotype-associated
VAR_048887 commonName VAR_048887
VAR_048887 disease not phenotype-associated
VAR_048888 commonName VAR_048888
VAR_048888 disease not phenotype-associated
VAR_048889 commonName VAR_048889
VAR_048889 disease not phenotype-associated
VAR_048890 commonName VAR_048890
VAR_048890 disease not phenotype-associated
VAR_048892 commonName VAR_048892
VAR_048892 disease not phenotype-associated
VAR_048893 commonName VAR_048893
VAR_048893 disease not phenotype-associated
VAR_048894 commonName VAR_048894
VAR_048894 disease not phenotype-associated
VAR_048895 commonName VAR_048895
VAR_048895 disease not phenotype-associated
VAR_048897 commonName VAR_048897
VAR_048897 disease not phenotype-associated
VAR_048898 commonName VAR_048898
VAR_048898 disease not phenotype-associated
VAR_048899 commonName VAR_048899
VAR_048899 disease not phenotype-associated
VAR_048900 commonName VAR_048900
VAR_048900 disease not phenotype-associated
VAR_048901 commonName VAR_048901
VAR_048901 disease not phenotype-associated
VAR_048902 commonName VAR_048902
VAR_048902 disease not phenotype-associated
VAR_048903 commonName VAR_048903
VAR_048903 disease not phenotype-associated
VAR_048904 commonName VAR_048904
VAR_048904 disease not phenotype-associated
VAR_048905 commonName VAR_048905
VAR_048905 disease not phenotype-associated
VAR_048906 commonName VAR_048906
VAR_048906 disease not phenotype-associated
VAR_048907 commonName VAR_048907
VAR_048907 disease not phenotype-associated
VAR_048908 commonName VAR_048908
VAR_048908 disease not phenotype-associated
VAR_048909 commonName VAR_048909
VAR_048909 disease not phenotype-associated
VAR_048910 commonName VAR_048910
VAR_048910 disease not phenotype-associated
VAR_048911 commonName VAR_048911
VAR_048911 disease not phenotype-associated
VAR_048912 commonName VAR_048912
VAR_048912 disease not phenotype-associated
VAR_048913 commonName VAR_048913
VAR_048913 disease not phenotype-associated
VAR_048914 commonName VAR_048914
VAR_048914 disease not phenotype-associated
VAR_048915 commonName VAR_048915
VAR_048915 disease not phenotype-associated
VAR_048916 commonName VAR_048916
VAR_048916 disease not phenotype-associated
VAR_048917 commonName VAR_048917
VAR_048917 disease not phenotype-associated
VAR_048918 commonName VAR_048918
VAR_048918 disease not phenotype-associated
VAR_048919 commonName VAR_048919
VAR_048919 disease not phenotype-associated
VAR_048920 commonName VAR_048920
VAR_048920 disease not phenotype-associated
VAR_048921 commonName VAR_048921
VAR_048921 disease not phenotype-associated
VAR_048922 commonName VAR_048922
VAR_048922 disease not phenotype-associated
VAR_048923 commonName VAR_048923
VAR_048923 disease not phenotype-associated
VAR_048924 commonName VAR_048924
VAR_048924 disease not phenotype-associated
VAR_048925 commonName VAR_048925
VAR_048925 disease not phenotype-associated
VAR_048926 commonName VAR_048926
VAR_048926 disease not phenotype-associated
VAR_048927 commonName VAR_048927
VAR_048927 disease not phenotype-associated
VAR_048929 commonName VAR_048929
VAR_048929 disease not phenotype-associated
VAR_048930 commonName VAR_048930
VAR_048930 disease not phenotype-associated
VAR_048931 commonName VAR_048931
VAR_048931 disease not phenotype-associated
VAR_048932 commonName VAR_048932
VAR_048932 disease not phenotype-associated
VAR_048934 commonName VAR_048934
VAR_048934 disease not phenotype-associated
VAR_048935 commonName VAR_048935
VAR_048935 disease not phenotype-associated
VAR_048936 commonName VAR_048936
VAR_048936 disease not phenotype-associated
VAR_048937 commonName VAR_048937
VAR_048937 disease not phenotype-associated
VAR_048938 commonName VAR_048938
VAR_048938 disease not phenotype-associated
VAR_048939 commonName VAR_048939
VAR_048939 disease not phenotype-associated
VAR_048940 commonName VAR_048940
VAR_048940 disease not phenotype-associated
VAR_048941 commonName VAR_048941
VAR_048941 disease not phenotype-associated
VAR_048942 commonName VAR_048942
VAR_048942 disease not phenotype-associated
VAR_048943 commonName VAR_048943
VAR_048943 disease not phenotype-associated
VAR_048944 commonName VAR_048944
VAR_048944 disease not phenotype-associated
VAR_048945 commonName VAR_048945
VAR_048945 disease not phenotype-associated
VAR_048946 commonName VAR_048946
VAR_048946 disease not phenotype-associated
VAR_048947 commonName VAR_048947
VAR_048947 disease not phenotype-associated
VAR_048948 commonName VAR_048948
VAR_048948 disease not phenotype-associated
VAR_048949 commonName VAR_048949
VAR_048949 disease not phenotype-associated
VAR_048950 commonName VAR_048950
VAR_048950 disease not phenotype-associated
VAR_048951 commonName VAR_048951
VAR_048951 disease not phenotype-associated
VAR_048952 commonName VAR_048952
VAR_048952 disease not phenotype-associated
VAR_048955 commonName VAR_048955
VAR_048955 disease not phenotype-associated
VAR_048956 commonName VAR_048956
VAR_048956 disease not phenotype-associated
VAR_048957 commonName VAR_048957
VAR_048957 disease not phenotype-associated
VAR_048958 commonName VAR_048958
VAR_048958 disease not phenotype-associated
VAR_048959 commonName VAR_048959
VAR_048959 disease not phenotype-associated
VAR_048960 commonName VAR_048960
VAR_048960 disease not phenotype-associated
VAR_048961 commonName VAR_048961
VAR_048961 disease not phenotype-associated
VAR_048962 commonName VAR_048962
VAR_048962 disease not phenotype-associated
VAR_048963 commonName VAR_048963
VAR_048963 disease not phenotype-associated
VAR_048964 commonName VAR_048964
VAR_048964 disease not phenotype-associated
VAR_048965 commonName VAR_048965
VAR_048965 disease not phenotype-associated
VAR_048966 commonName VAR_048966
VAR_048966 disease not phenotype-associated
VAR_048967 commonName VAR_048967
VAR_048967 disease not phenotype-associated
VAR_048968 commonName VAR_048968
VAR_048968 disease not phenotype-associated
VAR_048969 commonName VAR_048969
VAR_048969 disease not phenotype-associated
VAR_048970 commonName VAR_048970
VAR_048970 disease not phenotype-associated
VAR_048971 commonName VAR_048971
VAR_048971 disease not phenotype-associated
VAR_048972 commonName VAR_048972
VAR_048972 disease not phenotype-associated
VAR_048973 commonName VAR_048973
VAR_048973 disease not phenotype-associated
VAR_048974 commonName VAR_048974
VAR_048974 disease not phenotype-associated
VAR_048975 commonName VAR_048975
VAR_048975 disease not phenotype-associated
VAR_048976 commonName VAR_048976
VAR_048976 disease not phenotype-associated
VAR_048977 commonName VAR_048977
VAR_048977 disease not phenotype-associated
VAR_048978 commonName VAR_048978
VAR_048978 disease not phenotype-associated
VAR_048981 commonName VAR_048981
VAR_048981 disease not phenotype-associated
VAR_048982 commonName VAR_048982
VAR_048982 disease not phenotype-associated
VAR_048984 commonName VAR_048984
VAR_048984 disease not phenotype-associated
VAR_048985 commonName VAR_048985
VAR_048985 disease not phenotype-associated
VAR_048986 commonName VAR_048986
VAR_048986 disease not phenotype-associated
VAR_048987 commonName VAR_048987
VAR_048987 disease not phenotype-associated
VAR_048988 commonName VAR_048988
VAR_048988 disease not phenotype-associated
VAR_048990 commonName VAR_048990
VAR_048990 disease not phenotype-associated
VAR_048994 commonName VAR_048994
VAR_048994 disease not phenotype-associated
VAR_048995 commonName VAR_048995
VAR_048995 disease not phenotype-associated
VAR_048996 commonName VAR_048996
VAR_048996 disease not phenotype-associated
VAR_048997 commonName VAR_048997
VAR_048997 disease not phenotype-associated
VAR_048998 commonName VAR_048998
VAR_048998 disease not phenotype-associated
HbVar.683 ethnic French West Indies
VAR_048999 commonName VAR_048999
VAR_048999 disease not phenotype-associated
VAR_049000 commonName VAR_049000
VAR_049000 disease not phenotype-associated
VAR_049001 commonName VAR_049001
VAR_049001 disease not phenotype-associated
VAR_049002 commonName VAR_049002
VAR_049002 disease not phenotype-associated
VAR_049003 commonName VAR_049003
VAR_049003 disease not phenotype-associated
VAR_049004 commonName VAR_049004
VAR_049004 disease not phenotype-associated
VAR_049005 commonName VAR_049005
VAR_049005 disease not phenotype-associated
VAR_049006 commonName VAR_049006
VAR_049006 disease not phenotype-associated
VAR_049007 commonName VAR_049007
VAR_049007 disease not phenotype-associated
VAR_049008 commonName VAR_049008
VAR_049008 disease not phenotype-associated
VAR_049009 commonName VAR_049009
VAR_049009 disease not phenotype-associated
VAR_049010 commonName VAR_049010
VAR_049010 disease not phenotype-associated
VAR_049011 commonName VAR_049011
VAR_049011 disease not phenotype-associated
VAR_049012 commonName VAR_049012
VAR_049012 disease not phenotype-associated
VAR_049013 commonName VAR_049013
VAR_049013 disease not phenotype-associated
VAR_049014 commonName VAR_049014
VAR_049014 disease not phenotype-associated
VAR_049015 commonName VAR_049015
VAR_049015 disease not phenotype-associated
VAR_049016 commonName VAR_049016
VAR_049016 disease not phenotype-associated
VAR_049017 commonName VAR_049017
VAR_049017 disease not phenotype-associated
VAR_049018 commonName VAR_049018
VAR_049018 disease not phenotype-associated
VAR_049019 commonName VAR_049019
VAR_049019 disease not phenotype-associated
VAR_049020 commonName VAR_049020
VAR_049020 disease not phenotype-associated
VAR_049021 commonName VAR_049021
VAR_049021 disease not phenotype-associated
VAR_049022 commonName VAR_049022
VAR_049022 disease not phenotype-associated
VAR_049023 commonName VAR_049023
VAR_049023 disease not phenotype-associated
VAR_049024 commonName VAR_049024
VAR_049024 disease not phenotype-associated
VAR_049025 commonName VAR_049025
VAR_049025 disease not phenotype-associated
VAR_049026 commonName VAR_049026
VAR_049026 disease not phenotype-associated
VAR_049027 commonName VAR_049027
VAR_049027 disease not phenotype-associated
VAR_049028 commonName VAR_049028
VAR_049028 disease not phenotype-associated
VAR_049029 commonName VAR_049029
VAR_049029 disease not phenotype-associated
VAR_049030 commonName VAR_049030
VAR_049030 disease not phenotype-associated
VAR_049031 commonName VAR_049031
VAR_049031 disease not phenotype-associated
VAR_049032 commonName VAR_049032
VAR_049032 disease not phenotype-associated
VAR_049033 commonName VAR_049033
VAR_049033 disease not phenotype-associated
VAR_049036 commonName VAR_049036
VAR_049036 disease not phenotype-associated
VAR_049037 commonName VAR_049037
VAR_049037 disease not phenotype-associated
VAR_049038 commonName VAR_049038
VAR_049038 disease not phenotype-associated
VAR_049039 commonName VAR_049039
VAR_049039 disease not phenotype-associated
VAR_049041 commonName VAR_049041
VAR_049041 disease not phenotype-associated
VAR_049042 commonName VAR_049042
VAR_049042 disease not phenotype-associated
VAR_049043 commonName VAR_049043
VAR_049043 disease not phenotype-associated
VAR_049044 commonName VAR_049044
VAR_049044 disease not phenotype-associated
VAR_049045 commonName VAR_049045
VAR_049045 disease not phenotype-associated
VAR_049046 commonName VAR_049046
VAR_049046 disease not phenotype-associated
VAR_049047 commonName VAR_049047
VAR_049047 disease not phenotype-associated
VAR_049048 commonName VAR_049048
VAR_049048 disease not phenotype-associated
VAR_049049 commonName VAR_049049
VAR_049049 disease not phenotype-associated
VAR_049050 commonName VAR_049050
VAR_049050 disease not phenotype-associated
VAR_049051 commonName VAR_049051
VAR_049051 disease not phenotype-associated
VAR_049052 commonName VAR_049052
VAR_049052 disease not phenotype-associated
VAR_049053 commonName VAR_049053
VAR_049053 disease not phenotype-associated
VAR_049054 commonName VAR_049054
VAR_049054 disease not phenotype-associated
VAR_049055 commonName VAR_049055
VAR_049055 disease not phenotype-associated
VAR_049056 commonName VAR_049056
VAR_049056 disease not phenotype-associated
VAR_049057 commonName VAR_049057
VAR_049057 disease not phenotype-associated
VAR_049058 commonName VAR_049058
VAR_049058 disease not phenotype-associated
VAR_049059 commonName VAR_049059
VAR_049059 disease not phenotype-associated
VAR_049060 commonName VAR_049060
VAR_049060 disease not phenotype-associated
VAR_049061 commonName VAR_049061
VAR_049061 disease not phenotype-associated
VAR_049063 commonName VAR_049063
VAR_049063 disease not phenotype-associated
VAR_049064 commonName VAR_049064
VAR_049064 disease not phenotype-associated
VAR_049065 commonName VAR_049065
VAR_049065 disease not phenotype-associated
VAR_049066 commonName VAR_049066
VAR_049066 disease not phenotype-associated
VAR_049067 commonName VAR_049067
VAR_049067 disease not phenotype-associated
VAR_049068 commonName VAR_049068
VAR_049068 disease not phenotype-associated
VAR_049069 commonName VAR_049069
VAR_049069 disease not phenotype-associated
VAR_049070 commonName VAR_049070
VAR_049070 disease not phenotype-associated
VAR_049071 commonName VAR_049071
VAR_049071 disease not phenotype-associated
VAR_049072 commonName VAR_049072
VAR_049072 disease not phenotype-associated
VAR_049073 commonName VAR_049073
VAR_049073 disease not phenotype-associated
VAR_049074 commonName VAR_049074
VAR_049074 disease not phenotype-associated
VAR_049075 commonName VAR_049075
VAR_049075 disease not phenotype-associated
VAR_049076 commonName VAR_049076
VAR_049076 disease not phenotype-associated
VAR_049077 commonName VAR_049077
VAR_049077 disease not phenotype-associated
VAR_049078 commonName VAR_049078
VAR_049078 disease not phenotype-associated
VAR_049079 commonName VAR_049079
VAR_049079 disease not phenotype-associated
VAR_049080 commonName VAR_049080
VAR_049080 disease not phenotype-associated
VAR_049081 commonName VAR_049081
VAR_049081 disease not phenotype-associated
VAR_049087 commonName VAR_049087
VAR_049087 disease not phenotype-associated
VAR_049088 commonName VAR_049088
VAR_049088 disease not phenotype-associated
VAR_049089 commonName VAR_049089
VAR_049089 disease not phenotype-associated
VAR_049090 commonName VAR_049090
VAR_049090 disease not phenotype-associated
VAR_049091 commonName VAR_049091
VAR_049091 disease not phenotype-associated
VAR_049092 commonName VAR_049092
VAR_049092 disease not phenotype-associated
VAR_049093 commonName VAR_049093
VAR_049093 disease not phenotype-associated
VAR_049094 commonName VAR_049094
VAR_049094 disease not phenotype-associated
VAR_049095 commonName VAR_049095
VAR_049095 disease not phenotype-associated
VAR_049096 commonName VAR_049096
VAR_049096 disease not phenotype-associated
VAR_049097 commonName VAR_049097
VAR_049097 disease not phenotype-associated
VAR_049098 commonName VAR_049098
VAR_049098 disease not phenotype-associated
VAR_049099 commonName VAR_049099
VAR_049099 disease not phenotype-associated
VAR_049100 commonName VAR_049100
VAR_049100 disease not phenotype-associated
VAR_049101 commonName VAR_049101
VAR_049101 disease not phenotype-associated
VAR_049102 commonName VAR_049102
VAR_049102 disease not phenotype-associated
VAR_049103 commonName VAR_049103
VAR_049103 disease not phenotype-associated
VAR_049105 commonName VAR_049105
VAR_049105 disease not phenotype-associated
VAR_049106 commonName VAR_049106
VAR_049106 disease not phenotype-associated
VAR_049107 commonName VAR_049107
VAR_049107 disease not phenotype-associated
VAR_049108 commonName VAR_049108
VAR_049108 disease not phenotype-associated
VAR_049109 commonName VAR_049109
VAR_049109 disease not phenotype-associated
VAR_049110 commonName VAR_049110
VAR_049110 disease not phenotype-associated
VAR_049111 commonName VAR_049111
VAR_049111 disease not phenotype-associated
VAR_049112 commonName VAR_049112
VAR_049112 disease not phenotype-associated
VAR_049113 commonName VAR_049113
VAR_049113 disease not phenotype-associated
VAR_049114 commonName VAR_049114
VAR_049114 disease not phenotype-associated
VAR_049115 commonName VAR_049115
VAR_049115 disease not phenotype-associated
VAR_049117 commonName VAR_049117
VAR_049117 disease not phenotype-associated
VAR_049118 commonName VAR_049118
VAR_049118 disease not phenotype-associated
VAR_049119 commonName VAR_049119
VAR_049119 disease not phenotype-associated
VAR_049120 commonName VAR_049120
VAR_049120 disease not phenotype-associated
VAR_049121 commonName VAR_049121
VAR_049121 disease not phenotype-associated
VAR_049122 commonName VAR_049122
VAR_049122 disease not phenotype-associated
VAR_049123 commonName VAR_049123
VAR_049123 disease not phenotype-associated
VAR_049124 commonName VAR_049124
VAR_049124 disease not phenotype-associated
VAR_049125 commonName VAR_049125
VAR_049125 disease not phenotype-associated
VAR_049126 commonName VAR_049126
VAR_049126 disease not phenotype-associated
VAR_049127 commonName VAR_049127
VAR_049127 disease not phenotype-associated
VAR_049128 commonName VAR_049128
VAR_049128 disease not phenotype-associated
VAR_049129 commonName VAR_049129
VAR_049129 disease not phenotype-associated
VAR_049130 commonName VAR_049130
VAR_049130 disease not phenotype-associated
VAR_049131 commonName VAR_049131
VAR_049131 disease not phenotype-associated
VAR_049132 commonName VAR_049132
VAR_049132 disease not phenotype-associated
VAR_049133 commonName VAR_049133
VAR_049133 disease not phenotype-associated
VAR_049134 commonName VAR_049134
VAR_049134 disease not phenotype-associated
VAR_049135 commonName VAR_049135
VAR_049135 disease not phenotype-associated
VAR_049137 commonName VAR_049137
VAR_049137 disease not phenotype-associated
VAR_049138 commonName VAR_049138
VAR_049138 disease not phenotype-associated
VAR_049139 commonName VAR_049139
VAR_049139 disease not phenotype-associated
VAR_049140 commonName VAR_049140
VAR_049140 disease not phenotype-associated
VAR_049141 commonName VAR_049141
VAR_049141 disease not phenotype-associated
VAR_049145 commonName VAR_049145
VAR_049145 disease not phenotype-associated
VAR_049146 commonName VAR_049146
VAR_049146 disease not phenotype-associated
VAR_049147 commonName VAR_049147
VAR_049147 disease not phenotype-associated
VAR_049148 commonName VAR_049148
HbVar.683 phenoCommon Hemoglobin variant
VAR_049148 disease not phenotype-associated
VAR_049149 commonName VAR_049149
VAR_049149 disease not phenotype-associated
VAR_049150 commonName VAR_049150
VAR_049150 disease not phenotype-associated
VAR_049151 commonName VAR_049151
VAR_049151 disease not phenotype-associated
VAR_049152 commonName VAR_049152
VAR_049152 disease not phenotype-associated
VAR_049153 commonName VAR_049153
VAR_049153 disease not phenotype-associated
VAR_049154 commonName VAR_049154
VAR_049154 disease not phenotype-associated
VAR_049155 commonName VAR_049155
VAR_049155 disease not phenotype-associated
VAR_049156 commonName VAR_049156
VAR_049156 disease not phenotype-associated
VAR_049157 commonName VAR_049157
VAR_049157 disease not phenotype-associated
VAR_049158 commonName VAR_049158
VAR_049158 disease not phenotype-associated
VAR_049159 commonName VAR_049159
VAR_049159 disease not phenotype-associated
VAR_049160 commonName VAR_049160
VAR_049160 disease not phenotype-associated
VAR_049161 commonName VAR_049161
VAR_049161 disease not phenotype-associated
VAR_049162 commonName VAR_049162
VAR_049162 disease not phenotype-associated
VAR_049163 commonName VAR_049163
VAR_049163 disease not phenotype-associated
VAR_049164 commonName VAR_049164
VAR_049164 disease not phenotype-associated
VAR_049165 commonName VAR_049165
VAR_049165 disease not phenotype-associated
VAR_049167 commonName VAR_049167
VAR_049167 disease not phenotype-associated
VAR_049168 commonName VAR_049168
VAR_049168 disease not phenotype-associated
VAR_049169 commonName VAR_049169
VAR_049169 disease not phenotype-associated
VAR_049170 commonName VAR_049170
VAR_049170 disease not phenotype-associated
VAR_049171 commonName VAR_049171
VAR_049171 disease not phenotype-associated
VAR_049172 commonName VAR_049172
VAR_049172 disease not phenotype-associated
VAR_049173 commonName VAR_049173
VAR_049173 disease not phenotype-associated
VAR_049174 commonName VAR_049174
VAR_049174 disease not phenotype-associated
VAR_049175 commonName VAR_049175
VAR_049175 disease not phenotype-associated
VAR_049176 commonName VAR_049176
VAR_049176 disease not phenotype-associated
VAR_049177 commonName VAR_049177
VAR_049177 disease not phenotype-associated
VAR_049178 commonName VAR_049178
VAR_049178 disease not phenotype-associated
VAR_049179 commonName VAR_049179
VAR_049179 disease not phenotype-associated
VAR_049180 commonName VAR_049180
VAR_049180 disease not phenotype-associated
VAR_049181 commonName VAR_049181
VAR_049181 disease not phenotype-associated
VAR_049182 commonName VAR_049182
VAR_049182 disease not phenotype-associated
VAR_049183 commonName VAR_049183
VAR_049183 disease not phenotype-associated
VAR_049184 commonName VAR_049184
VAR_049184 disease not phenotype-associated
VAR_049185 commonName VAR_049185
VAR_049185 disease not phenotype-associated
VAR_049187 commonName VAR_049187
VAR_049187 disease not phenotype-associated
VAR_049188 commonName VAR_049188
VAR_049188 disease not phenotype-associated
VAR_049189 commonName VAR_049189
VAR_049189 disease not phenotype-associated
VAR_049190 commonName VAR_049190
VAR_049190 disease not phenotype-associated
VAR_049191 commonName VAR_049191
VAR_049191 disease not phenotype-associated
VAR_049192 commonName VAR_049192
VAR_049192 disease not phenotype-associated
VAR_049197 commonName VAR_049197
VAR_049197 disease not phenotype-associated
VAR_049198 commonName VAR_049198
VAR_049198 disease not phenotype-associated
VAR_049199 commonName VAR_049199
VAR_049199 disease not phenotype-associated
VAR_049200 commonName VAR_049200
VAR_049200 disease not phenotype-associated
VAR_049201 commonName VAR_049201
VAR_049201 disease not phenotype-associated
VAR_049202 commonName VAR_049202
VAR_049202 disease not phenotype-associated
VAR_049204 commonName VAR_049204
VAR_049204 disease not phenotype-associated
VAR_049205 commonName VAR_049205
VAR_049205 disease not phenotype-associated
VAR_049206 commonName VAR_049206
VAR_049206 disease not phenotype-associated
VAR_049207 commonName VAR_049207
VAR_049207 disease not phenotype-associated
VAR_049208 commonName VAR_049208
VAR_049208 disease not phenotype-associated
VAR_049209 commonName VAR_049209
VAR_049209 disease not phenotype-associated
VAR_049210 commonName VAR_049210
VAR_049210 disease not phenotype-associated
VAR_049213 commonName VAR_049213
VAR_049213 disease not phenotype-associated
VAR_049214 commonName VAR_049214
VAR_049214 disease not phenotype-associated
VAR_049215 commonName VAR_049215
VAR_049215 disease not phenotype-associated
VAR_049216 commonName VAR_049216
VAR_049216 disease not phenotype-associated
VAR_049218 commonName VAR_049218
VAR_049218 disease not phenotype-associated
VAR_049219 commonName VAR_049219
VAR_049219 disease not phenotype-associated
VAR_049220 commonName VAR_049220
VAR_049220 disease not phenotype-associated
VAR_049221 commonName VAR_049221
VAR_049221 disease not phenotype-associated
VAR_049222 commonName VAR_049222
VAR_049222 disease not phenotype-associated
VAR_049225 commonName VAR_049225
VAR_049225 disease not phenotype-associated
VAR_049226 commonName VAR_049226
VAR_049226 disease not phenotype-associated
VAR_049227 commonName VAR_049227
VAR_049227 disease not phenotype-associated
VAR_049228 commonName VAR_049228
VAR_049228 disease not phenotype-associated
VAR_049229 commonName VAR_049229
VAR_049229 disease not phenotype-associated
VAR_049230 commonName VAR_049230
VAR_049230 disease not phenotype-associated
VAR_049233 commonName VAR_049233
VAR_049233 disease not phenotype-associated
VAR_049234 commonName VAR_049234
VAR_049234 disease not phenotype-associated
VAR_049235 commonName VAR_049235
VAR_049235 disease not phenotype-associated
VAR_049237 commonName VAR_049237
VAR_049237 disease not phenotype-associated
VAR_049238 commonName VAR_049238
VAR_049238 disease not phenotype-associated
VAR_049239 commonName VAR_049239
VAR_049239 disease not phenotype-associated
VAR_049240 commonName VAR_049240
VAR_049240 disease not phenotype-associated
VAR_049241 commonName VAR_049241
VAR_049241 disease not phenotype-associated
VAR_049242 commonName VAR_049242
VAR_049242 disease not phenotype-associated
VAR_049243 commonName VAR_049243
VAR_049243 disease not phenotype-associated
VAR_049244 commonName VAR_049244
VAR_049244 disease not phenotype-associated
VAR_049245 commonName VAR_049245
VAR_049245 disease not phenotype-associated
VAR_049247 commonName VAR_049247
VAR_049247 disease not phenotype-associated
VAR_049248 commonName VAR_049248
VAR_049248 disease not phenotype-associated
VAR_049249 commonName VAR_049249
VAR_049249 disease not phenotype-associated
VAR_049251 commonName VAR_049251
VAR_049251 disease not phenotype-associated
VAR_049252 commonName VAR_049252
VAR_049252 disease not phenotype-associated
VAR_049253 commonName VAR_049253
VAR_049253 disease not phenotype-associated
VAR_049254 commonName VAR_049254
VAR_049254 disease not phenotype-associated
VAR_049255 commonName VAR_049255
VAR_049255 disease not phenotype-associated
VAR_049256 commonName VAR_049256
VAR_049256 disease not phenotype-associated
VAR_049257 commonName VAR_049257
VAR_049257 disease not phenotype-associated
VAR_049259 commonName VAR_049259
VAR_049259 disease not phenotype-associated
VAR_049260 commonName VAR_049260
VAR_049260 disease not phenotype-associated
VAR_049261 commonName VAR_049261
VAR_049261 disease not phenotype-associated
VAR_049262 commonName VAR_049262
VAR_049262 disease not phenotype-associated
VAR_049263 commonName VAR_049263
VAR_049263 disease not phenotype-associated
VAR_049264 commonName VAR_049264
VAR_049264 disease not phenotype-associated
VAR_049265 commonName VAR_049265
VAR_049265 disease not phenotype-associated
VAR_049266 commonName VAR_049266
VAR_049266 disease not phenotype-associated
VAR_049267 commonName VAR_049267
VAR_049267 disease not phenotype-associated
VAR_049268 commonName VAR_049268
VAR_049268 disease not phenotype-associated
VAR_049269 commonName VAR_049269
VAR_049269 disease not phenotype-associated
VAR_049270 commonName VAR_049270
VAR_049270 disease not phenotype-associated
VAR_049271 commonName VAR_049271
VAR_049271 disease not phenotype-associated
VAR_049272 commonName VAR_049272
VAR_049272 disease not phenotype-associated
VAR_049273 commonName VAR_049273
VAR_049273 disease not phenotype-associated
VAR_049274 commonName VAR_049274
VAR_049274 disease not phenotype-associated
VAR_049275 commonName VAR_049275
VAR_049275 disease not phenotype-associated
VAR_049276 commonName VAR_049276
VAR_049276 disease not phenotype-associated
VAR_049277 commonName VAR_049277
VAR_049277 disease not phenotype-associated
VAR_049278 commonName VAR_049278
VAR_049278 disease not phenotype-associated
VAR_049280 commonName VAR_049280
VAR_049280 disease not phenotype-associated
VAR_049281 commonName VAR_049281
VAR_049281 disease not phenotype-associated
VAR_049282 commonName VAR_049282
VAR_049282 disease not phenotype-associated
VAR_049283 commonName VAR_049283
VAR_049283 disease not phenotype-associated
VAR_049284 commonName VAR_049284
VAR_049284 disease not phenotype-associated
VAR_049285 commonName VAR_049285
VAR_049285 disease not phenotype-associated
VAR_049286 commonName VAR_049286
VAR_049286 disease not phenotype-associated
VAR_049287 commonName VAR_049287
VAR_049287 disease not phenotype-associated
VAR_049288 commonName VAR_049288
VAR_049288 disease not phenotype-associated
VAR_049289 commonName VAR_049289
VAR_049289 disease not phenotype-associated
VAR_049290 commonName VAR_049290
VAR_049290 disease not phenotype-associated
VAR_049291 commonName VAR_049291
VAR_049291 disease not phenotype-associated
VAR_049292 commonName VAR_049292
VAR_049292 disease not phenotype-associated
VAR_049293 commonName VAR_049293
VAR_049293 disease not phenotype-associated
VAR_049294 commonName VAR_049294
VAR_049294 disease not phenotype-associated
VAR_049295 commonName VAR_049295
VAR_049295 disease not phenotype-associated
VAR_049296 commonName VAR_049296
VAR_049296 disease not phenotype-associated
VAR_049297 commonName VAR_049297
VAR_049297 disease not phenotype-associated
VAR_049298 commonName VAR_049298
VAR_049298 disease not phenotype-associated
VAR_049299 commonName VAR_049299
VAR_049299 disease not phenotype-associated
VAR_049300 commonName VAR_049300
VAR_049300 disease not phenotype-associated
VAR_049301 commonName VAR_049301
VAR_049301 disease not phenotype-associated
VAR_049302 commonName VAR_049302
VAR_049302 disease not phenotype-associated
VAR_049303 commonName VAR_049303
VAR_049303 disease not phenotype-associated
VAR_049304 commonName VAR_049304
VAR_049304 disease not phenotype-associated
VAR_049305 commonName VAR_049305
VAR_049305 disease not phenotype-associated
VAR_049306 commonName VAR_049306
VAR_049306 disease not phenotype-associated
VAR_049307 commonName VAR_049307
VAR_049307 disease not phenotype-associated
VAR_049308 commonName VAR_049308
VAR_049308 disease not phenotype-associated
VAR_049309 commonName VAR_049309
VAR_049309 disease not phenotype-associated
VAR_049310 commonName VAR_049310
VAR_049310 disease not phenotype-associated
VAR_049311 commonName VAR_049311
VAR_049311 disease not phenotype-associated
VAR_049312 commonName VAR_049312
VAR_049312 disease not phenotype-associated
VAR_049313 commonName VAR_049313
VAR_049313 disease not phenotype-associated
VAR_049314 commonName VAR_049314
VAR_049314 disease not phenotype-associated
VAR_049315 commonName VAR_049315
VAR_049315 disease not phenotype-associated
VAR_049316 commonName VAR_049316
VAR_049316 disease not phenotype-associated
VAR_049317 commonName VAR_049317
VAR_049317 disease not phenotype-associated
VAR_049318 commonName VAR_049318
VAR_049318 disease not phenotype-associated
VAR_049319 commonName VAR_049319
VAR_049319 disease not phenotype-associated
VAR_049320 commonName VAR_049320
VAR_049320 disease not phenotype-associated
VAR_049321 commonName VAR_049321
VAR_049321 disease not phenotype-associated
VAR_049322 commonName VAR_049322
VAR_049322 disease not phenotype-associated
VAR_049323 commonName VAR_049323
VAR_049323 disease not phenotype-associated
VAR_049324 commonName VAR_049324
VAR_049324 disease not phenotype-associated
VAR_049325 commonName VAR_049325
VAR_049325 disease not phenotype-associated
VAR_049326 commonName VAR_049326
VAR_049326 disease not phenotype-associated
VAR_049327 commonName VAR_049327
VAR_049327 disease not phenotype-associated
VAR_049328 commonName VAR_049328
VAR_049328 disease not phenotype-associated
VAR_049329 commonName VAR_049329
VAR_049329 disease not phenotype-associated
VAR_049330 commonName VAR_049330
VAR_049330 disease not phenotype-associated
VAR_049331 commonName VAR_049331
VAR_049331 disease not phenotype-associated
VAR_049332 commonName VAR_049332
VAR_049332 disease not phenotype-associated
VAR_049333 commonName VAR_049333
VAR_049333 disease not phenotype-associated
VAR_049334 commonName VAR_049334
VAR_049334 disease not phenotype-associated
VAR_049335 commonName VAR_049335
VAR_049335 disease not phenotype-associated
VAR_049336 commonName VAR_049336
VAR_049336 disease not phenotype-associated
VAR_049337 commonName VAR_049337
VAR_049337 disease not phenotype-associated
VAR_049338 commonName VAR_049338
VAR_049338 disease not phenotype-associated
VAR_049339 commonName VAR_049339
VAR_049339 disease not phenotype-associated
VAR_049340 commonName VAR_049340
VAR_049340 disease not phenotype-associated
VAR_049341 commonName VAR_049341
VAR_049341 disease not phenotype-associated
VAR_049342 commonName VAR_049342
VAR_049342 disease not phenotype-associated
VAR_049343 commonName VAR_049343
VAR_049343 disease not phenotype-associated
VAR_049344 commonName VAR_049344
VAR_049344 disease not phenotype-associated
VAR_049345 commonName VAR_049345
VAR_049345 disease not phenotype-associated
VAR_049346 commonName VAR_049346
VAR_049346 disease not phenotype-associated
VAR_049347 commonName VAR_049347
VAR_049347 disease not phenotype-associated
VAR_049348 commonName VAR_049348
VAR_049348 disease not phenotype-associated
VAR_049349 commonName VAR_049349
VAR_049349 disease not phenotype-associated
VAR_049351 commonName VAR_049351
VAR_049351 disease not phenotype-associated
HbVar.684 protEffect HBB 7(A3) Glu>Val AND HBB 59(E2) Pro>Arg
VAR_049352 commonName VAR_049352
VAR_049352 disease not phenotype-associated
VAR_049353 commonName VAR_049353
VAR_049353 disease not phenotype-associated
VAR_049354 commonName VAR_049354
VAR_049354 disease not phenotype-associated
VAR_049355 commonName VAR_049355
VAR_049355 disease not phenotype-associated
VAR_049356 commonName VAR_049356
VAR_049356 disease not phenotype-associated
VAR_049357 commonName VAR_049357
VAR_049357 disease not phenotype-associated
VAR_049359 commonName VAR_049359
VAR_049359 disease not phenotype-associated
VAR_049360 commonName VAR_049360
VAR_049360 disease not phenotype-associated
VAR_049361 commonName VAR_049361
VAR_049361 disease not phenotype-associated
VAR_049366 commonName VAR_049366
VAR_049366 disease not phenotype-associated
VAR_049367 commonName VAR_049367
VAR_049367 disease not phenotype-associated
VAR_049368 commonName VAR_049368
VAR_049368 disease not phenotype-associated
VAR_049369 commonName VAR_049369
VAR_049369 disease not phenotype-associated
VAR_049370 commonName VAR_049370
VAR_049370 disease not phenotype-associated
VAR_049371 commonName VAR_049371
VAR_049371 disease not phenotype-associated
VAR_049372 commonName VAR_049372
VAR_049372 disease not phenotype-associated
VAR_049373 commonName VAR_049373
VAR_049373 disease not phenotype-associated
VAR_049374 commonName VAR_049374
VAR_049374 disease not phenotype-associated
VAR_049375 commonName VAR_049375
VAR_049375 disease not phenotype-associated
VAR_049376 commonName VAR_049376
VAR_049376 disease not phenotype-associated
VAR_049377 commonName VAR_049377
VAR_049377 disease not phenotype-associated
VAR_049378 commonName VAR_049378
VAR_049378 disease not phenotype-associated
VAR_049379 commonName VAR_049379
VAR_049379 disease not phenotype-associated
VAR_049380 commonName VAR_049380
VAR_049380 disease not phenotype-associated
VAR_049381 commonName VAR_049381
VAR_049381 disease not phenotype-associated
VAR_049382 commonName VAR_049382
VAR_049382 disease not phenotype-associated
VAR_049383 commonName VAR_049383
VAR_049383 disease not phenotype-associated
VAR_049384 commonName VAR_049384
VAR_049384 disease not phenotype-associated
VAR_049385 commonName VAR_049385
VAR_049385 disease not phenotype-associated
VAR_049386 commonName VAR_049386
VAR_049386 disease not phenotype-associated
VAR_049387 commonName VAR_049387
VAR_049387 disease not phenotype-associated
VAR_049388 commonName VAR_049388
VAR_049388 disease not phenotype-associated
VAR_049389 commonName VAR_049389
VAR_049389 disease not phenotype-associated
VAR_049390 commonName VAR_049390
VAR_049390 disease not phenotype-associated
VAR_049391 commonName VAR_049391
VAR_049391 disease not phenotype-associated
VAR_049392 commonName VAR_049392
VAR_049392 disease not phenotype-associated
VAR_049393 commonName VAR_049393
VAR_049393 disease not phenotype-associated
VAR_049394 commonName VAR_049394
VAR_049394 disease not phenotype-associated
VAR_049395 commonName VAR_049395
VAR_049395 disease not phenotype-associated
VAR_049396 commonName VAR_049396
VAR_049396 disease not phenotype-associated
VAR_049397 commonName VAR_049397
VAR_049397 disease not phenotype-associated
VAR_049398 commonName VAR_049398
VAR_049398 disease not phenotype-associated
VAR_049399 commonName VAR_049399
VAR_049399 disease not phenotype-associated
VAR_049400 commonName VAR_049400
VAR_049400 disease not phenotype-associated
VAR_049401 commonName VAR_049401
VAR_049401 disease not phenotype-associated
VAR_049402 commonName VAR_049402
VAR_049402 disease not phenotype-associated
VAR_049403 commonName VAR_049403
VAR_049403 disease not phenotype-associated
VAR_049404 commonName VAR_049404
VAR_049404 disease not phenotype-associated
VAR_049405 commonName VAR_049405
VAR_049405 disease not phenotype-associated
VAR_049406 commonName VAR_049406
VAR_049406 disease not phenotype-associated
VAR_049407 commonName VAR_049407
VAR_049407 disease not phenotype-associated
VAR_049408 commonName VAR_049408
VAR_049408 disease not phenotype-associated
VAR_049409 commonName VAR_049409
VAR_049409 disease not phenotype-associated
VAR_049410 commonName VAR_049410
VAR_049410 disease not phenotype-associated
VAR_049411 commonName VAR_049411
VAR_049411 disease not phenotype-associated
VAR_049412 commonName VAR_049412
VAR_049412 disease not phenotype-associated
VAR_049413 commonName VAR_049413
VAR_049413 disease not phenotype-associated
VAR_049414 commonName VAR_049414
VAR_049414 disease not phenotype-associated
VAR_049415 commonName VAR_049415
VAR_049415 disease not phenotype-associated
VAR_049417 commonName VAR_049417
VAR_049417 disease not phenotype-associated
VAR_049418 commonName VAR_049418
VAR_049418 disease not phenotype-associated
VAR_049419 commonName VAR_049419
VAR_049419 disease not phenotype-associated
VAR_049420 commonName VAR_049420
VAR_049420 disease not phenotype-associated
VAR_049421 commonName VAR_049421
VAR_049421 disease not phenotype-associated
VAR_049422 commonName VAR_049422
VAR_049422 disease not phenotype-associated
VAR_049423 commonName VAR_049423
VAR_049423 disease not phenotype-associated
VAR_049424 commonName VAR_049424
VAR_049424 disease not phenotype-associated
VAR_049425 commonName VAR_049425
VAR_049425 disease not phenotype-associated
VAR_049426 commonName VAR_049426
VAR_049426 disease not phenotype-associated
VAR_049427 commonName VAR_049427
VAR_049427 disease not phenotype-associated
VAR_049428 commonName VAR_049428
VAR_049428 disease not phenotype-associated
VAR_049429 commonName VAR_049429
VAR_049429 disease not phenotype-associated
VAR_049430 commonName VAR_049430
VAR_049430 disease not phenotype-associated
VAR_049431 commonName VAR_049431
VAR_049431 disease not phenotype-associated
VAR_049432 commonName VAR_049432
VAR_049432 disease not phenotype-associated
VAR_049433 commonName VAR_049433
VAR_049433 disease not phenotype-associated
VAR_049434 commonName VAR_049434
VAR_049434 disease not phenotype-associated
VAR_049435 commonName VAR_049435
VAR_049435 disease not phenotype-associated
VAR_049436 commonName VAR_049436
VAR_049436 disease not phenotype-associated
VAR_049437 commonName VAR_049437
VAR_049437 disease not phenotype-associated
VAR_049438 commonName VAR_049438
VAR_049438 disease not phenotype-associated
VAR_049440 commonName VAR_049440
VAR_049440 disease not phenotype-associated
VAR_049441 commonName VAR_049441
VAR_049441 disease not phenotype-associated
VAR_049442 commonName VAR_049442
VAR_049442 disease not phenotype-associated
VAR_049443 commonName VAR_049443
VAR_049443 disease not phenotype-associated
VAR_049444 commonName VAR_049444
VAR_049444 disease not phenotype-associated
VAR_049445 commonName VAR_049445
VAR_049445 disease not phenotype-associated
VAR_049446 commonName VAR_049446
VAR_049446 disease not phenotype-associated
VAR_049447 commonName VAR_049447
VAR_049447 disease not phenotype-associated
VAR_049448 commonName VAR_049448
VAR_049448 disease not phenotype-associated
VAR_049449 commonName VAR_049449
VAR_049449 disease not phenotype-associated
VAR_049450 commonName VAR_049450
VAR_049450 disease not phenotype-associated
VAR_049451 commonName VAR_049451
VAR_049451 disease not phenotype-associated
VAR_049452 commonName VAR_049452
VAR_049452 disease not phenotype-associated
VAR_049453 commonName VAR_049453
VAR_049453 disease not phenotype-associated
VAR_049454 commonName VAR_049454
VAR_049454 disease not phenotype-associated
VAR_049455 commonName VAR_049455
VAR_049455 disease not phenotype-associated
VAR_049456 commonName VAR_049456
VAR_049456 disease not phenotype-associated
VAR_049457 commonName VAR_049457
VAR_049457 disease not phenotype-associated
VAR_049459 commonName VAR_049459
VAR_049459 disease not phenotype-associated
VAR_049460 commonName VAR_049460
VAR_049460 disease not phenotype-associated
VAR_049461 commonName VAR_049461
VAR_049461 disease not phenotype-associated
VAR_049462 commonName VAR_049462
VAR_049462 disease not phenotype-associated
VAR_049463 commonName VAR_049463
VAR_049463 disease not phenotype-associated
VAR_049464 commonName VAR_049464
VAR_049464 disease not phenotype-associated
VAR_049465 commonName VAR_049465
VAR_049465 disease not phenotype-associated
VAR_049466 commonName VAR_049466
VAR_049466 disease not phenotype-associated
VAR_049467 commonName VAR_049467
VAR_049467 disease not phenotype-associated
VAR_049468 commonName VAR_049468
VAR_049468 disease not phenotype-associated
VAR_049469 commonName VAR_049469
VAR_049469 disease not phenotype-associated
VAR_049470 commonName VAR_049470
VAR_049470 disease not phenotype-associated
VAR_049471 commonName VAR_049471
VAR_049471 disease not phenotype-associated
VAR_049472 commonName VAR_049472
VAR_049472 disease not phenotype-associated
VAR_049473 commonName VAR_049473
VAR_049473 disease not phenotype-associated
VAR_049474 commonName VAR_049474
VAR_049474 disease not phenotype-associated
VAR_049475 commonName VAR_049475
VAR_049475 disease not phenotype-associated
VAR_049476 commonName VAR_049476
VAR_049476 disease not phenotype-associated
VAR_049480 commonName VAR_049480
VAR_049480 disease not phenotype-associated
VAR_049481 commonName VAR_049481
VAR_049481 disease not phenotype-associated
VAR_049482 commonName VAR_049482
VAR_049482 disease not phenotype-associated
VAR_049483 commonName VAR_049483
VAR_049483 disease not phenotype-associated
VAR_049484 commonName VAR_049484
VAR_049484 disease not phenotype-associated
VAR_049485 commonName VAR_049485
VAR_049485 disease not phenotype-associated
VAR_049486 commonName VAR_049486
VAR_049486 disease not phenotype-associated
VAR_049491 commonName VAR_049491
VAR_049491 disease not phenotype-associated
VAR_049492 commonName VAR_049492
VAR_049492 disease not phenotype-associated
VAR_049493 commonName VAR_049493
VAR_049493 disease not phenotype-associated
VAR_049494 commonName VAR_049494
VAR_049494 disease not phenotype-associated
VAR_049495 commonName VAR_049495
VAR_049495 disease not phenotype-associated
VAR_049496 commonName VAR_049496
VAR_049496 disease not phenotype-associated
VAR_049497 commonName VAR_049497
VAR_049497 disease not phenotype-associated
VAR_049498 commonName VAR_049498
VAR_049498 disease not phenotype-associated
VAR_049499 commonName VAR_049499
VAR_049499 disease not phenotype-associated
VAR_049500 commonName VAR_049500
VAR_049500 disease not phenotype-associated
VAR_049501 commonName VAR_049501
VAR_049501 disease not phenotype-associated
VAR_049502 commonName VAR_049502
VAR_049502 disease not phenotype-associated
VAR_049503 commonName VAR_049503
VAR_049503 disease not phenotype-associated
VAR_049504 commonName VAR_049504
VAR_049504 disease not phenotype-associated
VAR_049505 commonName VAR_049505
VAR_049505 disease not phenotype-associated
VAR_049506 commonName VAR_049506
VAR_049506 disease not phenotype-associated
VAR_049507 commonName VAR_049507
VAR_049507 disease not phenotype-associated
VAR_049508 commonName VAR_049508
VAR_049508 disease not phenotype-associated
VAR_049509 commonName VAR_049509
VAR_049509 disease not phenotype-associated
VAR_049510 commonName VAR_049510
VAR_049510 disease not phenotype-associated
VAR_049511 commonName VAR_049511
VAR_049511 disease not phenotype-associated
VAR_049514 commonName VAR_049514
VAR_049514 disease not phenotype-associated
VAR_049520 commonName VAR_049520
VAR_049520 disease not phenotype-associated
VAR_049521 commonName VAR_049521
VAR_049521 disease not phenotype-associated
VAR_049522 commonName VAR_049522
VAR_049522 disease not phenotype-associated
VAR_049523 commonName VAR_049523
VAR_049523 disease not phenotype-associated
VAR_049524 commonName VAR_049524
VAR_049524 disease not phenotype-associated
VAR_049525 commonName VAR_049525
VAR_049525 disease not phenotype-associated
VAR_049526 commonName VAR_049526
VAR_049526 disease not phenotype-associated
VAR_049527 commonName VAR_049527
VAR_049527 disease not phenotype-associated
VAR_049528 commonName VAR_049528
VAR_049528 disease not phenotype-associated
VAR_049529 commonName VAR_049529
VAR_049529 disease not phenotype-associated
VAR_049530 commonName VAR_049530
VAR_049530 disease not phenotype-associated
VAR_049531 commonName VAR_049531
VAR_049531 disease not phenotype-associated
VAR_049532 commonName VAR_049532
VAR_049532 disease not phenotype-associated
VAR_049533 commonName VAR_049533
VAR_049533 disease not phenotype-associated
VAR_049534 commonName VAR_049534
VAR_049534 disease not phenotype-associated
VAR_049535 commonName VAR_049535
VAR_049535 disease not phenotype-associated
VAR_049536 commonName VAR_049536
VAR_049536 disease not phenotype-associated
VAR_049537 commonName VAR_049537
VAR_049537 disease not phenotype-associated
VAR_049538 commonName VAR_049538
VAR_049538 disease not phenotype-associated
VAR_049539 commonName VAR_049539
VAR_049539 disease not phenotype-associated
VAR_049540 commonName VAR_049540
VAR_049540 disease not phenotype-associated
VAR_049541 commonName VAR_049541
VAR_049541 disease not phenotype-associated
VAR_049542 commonName VAR_049542
VAR_049542 disease not phenotype-associated
VAR_049543 commonName VAR_049543
VAR_049543 disease not phenotype-associated
VAR_049544 commonName VAR_049544
VAR_049544 disease not phenotype-associated
VAR_049545 commonName VAR_049545
VAR_049545 disease not phenotype-associated
VAR_049546 commonName VAR_049546
VAR_049546 disease not phenotype-associated
VAR_049547 commonName VAR_049547
VAR_049547 disease not phenotype-associated
VAR_049548 commonName VAR_049548
VAR_049548 disease not phenotype-associated
VAR_049549 commonName VAR_049549
VAR_049549 disease not phenotype-associated
VAR_049550 commonName VAR_049550
VAR_049550 disease not phenotype-associated
VAR_049551 commonName VAR_049551
VAR_049551 disease not phenotype-associated
VAR_049552 commonName VAR_049552
VAR_049552 disease not phenotype-associated
VAR_049553 commonName VAR_049553
VAR_049553 disease not phenotype-associated
VAR_049555 commonName VAR_049555
VAR_049555 disease not phenotype-associated
VAR_049556 commonName VAR_049556
VAR_049556 disease not phenotype-associated
VAR_049557 commonName VAR_049557
VAR_049557 disease not phenotype-associated
VAR_049558 commonName VAR_049558
VAR_049558 disease not phenotype-associated
VAR_049559 commonName VAR_049559
VAR_049559 disease not phenotype-associated
VAR_049560 commonName VAR_049560
VAR_049560 disease not phenotype-associated
VAR_049561 commonName VAR_049561
VAR_049561 disease not phenotype-associated
VAR_049562 commonName VAR_049562
VAR_049562 disease not phenotype-associated
VAR_049563 commonName VAR_049563
VAR_049563 disease not phenotype-associated
VAR_049564 commonName VAR_049564
VAR_049564 disease not phenotype-associated
VAR_049565 commonName VAR_049565
VAR_049565 disease not phenotype-associated
VAR_049566 commonName VAR_049566
VAR_049566 disease not phenotype-associated
VAR_049567 commonName VAR_049567
VAR_049567 disease not phenotype-associated
VAR_049568 commonName VAR_049568
VAR_049568 disease not phenotype-associated
VAR_049569 commonName VAR_049569
VAR_049569 disease not phenotype-associated
VAR_049570 commonName VAR_049570
VAR_049570 disease not phenotype-associated
VAR_049571 commonName VAR_049571
VAR_049571 disease not phenotype-associated
VAR_049572 commonName VAR_049572
VAR_049572 disease not phenotype-associated
VAR_049573 commonName VAR_049573
VAR_049573 disease not phenotype-associated
VAR_049574 commonName VAR_049574
VAR_049574 disease not phenotype-associated
VAR_049575 commonName VAR_049575
VAR_049575 disease not phenotype-associated
VAR_049576 commonName VAR_049576
VAR_049576 disease not phenotype-associated
VAR_049577 commonName VAR_049577
VAR_049577 disease not phenotype-associated
VAR_049578 commonName VAR_049578
VAR_049578 disease not phenotype-associated
VAR_049579 commonName VAR_049579
VAR_049579 disease not phenotype-associated
VAR_049580 commonName VAR_049580
VAR_049580 disease not phenotype-associated
VAR_049581 commonName VAR_049581
VAR_049581 disease not phenotype-associated
VAR_049582 commonName VAR_049582
VAR_049582 disease not phenotype-associated
VAR_049583 commonName VAR_049583
VAR_049583 disease not phenotype-associated
VAR_049584 commonName VAR_049584
VAR_049584 disease not phenotype-associated
VAR_049585 commonName VAR_049585
VAR_049585 disease not phenotype-associated
VAR_049586 commonName VAR_049586
VAR_049586 disease not phenotype-associated
VAR_049587 commonName VAR_049587
VAR_049587 disease not phenotype-associated
VAR_049588 commonName VAR_049588
VAR_049588 disease not phenotype-associated
VAR_049589 commonName VAR_049589
VAR_049589 disease not phenotype-associated
VAR_049590 commonName VAR_049590
VAR_049590 disease not phenotype-associated
VAR_049591 commonName VAR_049591
VAR_049591 disease not phenotype-associated
VAR_049592 commonName VAR_049592
VAR_049592 disease not phenotype-associated
VAR_049593 commonName VAR_049593
VAR_049593 disease not phenotype-associated
VAR_049594 commonName VAR_049594
VAR_049594 disease not phenotype-associated
VAR_049595 commonName VAR_049595
VAR_049595 disease not phenotype-associated
VAR_049596 commonName VAR_049596
VAR_049596 disease not phenotype-associated
VAR_049597 commonName VAR_049597
VAR_049597 disease not phenotype-associated
VAR_049598 commonName VAR_049598
VAR_049598 disease not phenotype-associated
VAR_049599 commonName VAR_049599
VAR_049599 disease not phenotype-associated
VAR_049600 commonName VAR_049600
VAR_049600 disease not phenotype-associated
VAR_049601 commonName VAR_049601
VAR_049601 disease not phenotype-associated
VAR_049604 commonName VAR_049604
VAR_049604 disease not phenotype-associated
VAR_049605 commonName VAR_049605
VAR_049605 disease not phenotype-associated
VAR_049606 commonName VAR_049606
VAR_049606 disease not phenotype-associated
VAR_049607 commonName VAR_049607
VAR_049607 disease not phenotype-associated
VAR_049608 commonName VAR_049608
VAR_049608 disease not phenotype-associated
VAR_049609 commonName VAR_049609
VAR_049609 disease not phenotype-associated
VAR_049610 commonName VAR_049610
VAR_049610 disease not phenotype-associated
VAR_049611 commonName VAR_049611
VAR_049611 disease not phenotype-associated
VAR_049612 commonName VAR_049612
VAR_049612 disease not phenotype-associated
VAR_049613 commonName VAR_049613
VAR_049613 disease not phenotype-associated
VAR_049614 commonName VAR_049614
VAR_049614 disease not phenotype-associated
VAR_049615 commonName VAR_049615
VAR_049615 disease not phenotype-associated
VAR_049616 commonName VAR_049616
VAR_049616 disease not phenotype-associated
VAR_049617 commonName VAR_049617
VAR_049617 disease not phenotype-associated
VAR_049618 commonName VAR_049618
VAR_049618 disease not phenotype-associated
VAR_049619 commonName VAR_049619
VAR_049619 disease not phenotype-associated
VAR_049621 commonName VAR_049621
VAR_049621 disease not phenotype-associated
VAR_049622 commonName VAR_049622
VAR_049622 disease not phenotype-associated
VAR_049623 commonName VAR_049623
VAR_049623 disease not phenotype-associated
VAR_049624 commonName VAR_049624
VAR_049624 disease not phenotype-associated
VAR_049625 commonName VAR_049625
VAR_049625 disease not phenotype-associated
VAR_049627 commonName VAR_049627
VAR_049627 disease not phenotype-associated
VAR_049628 commonName VAR_049628
VAR_049628 disease not phenotype-associated
VAR_049629 commonName VAR_049629
VAR_049629 disease not phenotype-associated
VAR_049630 commonName VAR_049630
VAR_049630 disease not phenotype-associated
VAR_049631 commonName VAR_049631
VAR_049631 disease not phenotype-associated
VAR_049632 commonName VAR_049632
VAR_049632 disease not phenotype-associated
VAR_049633 commonName VAR_049633
VAR_049633 disease not phenotype-associated
VAR_049634 commonName VAR_049634
VAR_049634 disease not phenotype-associated
VAR_049635 commonName VAR_049635
VAR_049635 disease not phenotype-associated
VAR_049636 commonName VAR_049636
VAR_049636 disease not phenotype-associated
VAR_049637 commonName VAR_049637
VAR_049637 disease not phenotype-associated
VAR_049638 commonName VAR_049638
VAR_049638 disease not phenotype-associated
VAR_049639 commonName VAR_049639
VAR_049639 disease not phenotype-associated
VAR_049640 commonName VAR_049640
VAR_049640 disease not phenotype-associated
VAR_049641 commonName VAR_049641
VAR_049641 disease not phenotype-associated
VAR_049642 commonName VAR_049642
VAR_049642 disease not phenotype-associated
VAR_049643 commonName VAR_049643
VAR_049643 disease not phenotype-associated
VAR_049645 commonName VAR_049645
VAR_049645 disease not phenotype-associated
VAR_049646 commonName VAR_049646
VAR_049646 disease not phenotype-associated
VAR_049647 commonName VAR_049647
VAR_049647 disease not phenotype-associated
VAR_049648 commonName VAR_049648
VAR_049648 disease not phenotype-associated
VAR_049649 commonName VAR_049649
VAR_049649 disease not phenotype-associated
VAR_049650 commonName VAR_049650
VAR_049650 disease not phenotype-associated
VAR_049651 commonName VAR_049651
VAR_049651 disease not phenotype-associated
VAR_049652 commonName VAR_049652
VAR_049652 disease not phenotype-associated
VAR_049653 commonName VAR_049653
VAR_049653 disease not phenotype-associated
VAR_049654 commonName VAR_049654
VAR_049654 disease not phenotype-associated
VAR_049655 commonName VAR_049655
VAR_049655 disease not phenotype-associated
VAR_049656 commonName VAR_049656
VAR_049656 disease not phenotype-associated
VAR_049657 commonName VAR_049657
VAR_049657 disease not phenotype-associated
VAR_049660 commonName VAR_049660
VAR_049660 disease not phenotype-associated
VAR_049661 commonName VAR_049661
VAR_049661 disease not phenotype-associated
VAR_049662 commonName VAR_049662
VAR_049662 disease not phenotype-associated
VAR_049664 commonName VAR_049664
VAR_049664 disease not phenotype-associated
VAR_049665 commonName VAR_049665
VAR_049665 disease not phenotype-associated
VAR_049666 commonName VAR_049666
VAR_049666 disease not phenotype-associated
VAR_049667 commonName VAR_049667
VAR_049667 disease not phenotype-associated
VAR_049668 commonName VAR_049668
VAR_049668 disease not phenotype-associated
VAR_049669 commonName VAR_049669
VAR_049669 disease not phenotype-associated
VAR_049670 commonName VAR_049670
VAR_049670 disease not phenotype-associated
VAR_049671 commonName VAR_049671
VAR_049671 disease not phenotype-associated
VAR_049672 commonName VAR_049672
VAR_049672 disease not phenotype-associated
VAR_049673 commonName VAR_049673
VAR_049673 disease not phenotype-associated
VAR_049674 commonName VAR_049674
VAR_049674 disease not phenotype-associated
VAR_049675 commonName VAR_049675
VAR_049675 disease not phenotype-associated
VAR_049676 commonName VAR_049676
VAR_049676 disease not phenotype-associated
VAR_049677 commonName VAR_049677
VAR_049677 disease not phenotype-associated
VAR_049678 commonName VAR_049678
VAR_049678 disease not phenotype-associated
VAR_049679 commonName VAR_049679
VAR_049679 disease not phenotype-associated
VAR_049680 commonName VAR_049680
VAR_049680 disease not phenotype-associated
VAR_049681 commonName VAR_049681
VAR_049681 disease not phenotype-associated
VAR_049682 commonName VAR_049682
VAR_049682 disease not phenotype-associated
VAR_049683 commonName VAR_049683
VAR_049683 disease not phenotype-associated
VAR_049684 commonName VAR_049684
VAR_049684 disease not phenotype-associated
VAR_049685 commonName VAR_049685
VAR_049685 disease not phenotype-associated
VAR_049686 commonName VAR_049686
VAR_049686 disease not phenotype-associated
VAR_049687 commonName VAR_049687
VAR_049687 disease not phenotype-associated
VAR_049688 commonName VAR_049688
VAR_049688 disease not phenotype-associated
VAR_049689 commonName VAR_049689
VAR_049689 disease not phenotype-associated
VAR_049690 commonName VAR_049690
VAR_049690 disease not phenotype-associated
VAR_049691 commonName VAR_049691
VAR_049691 disease not phenotype-associated
VAR_049692 commonName VAR_049692
VAR_049692 disease not phenotype-associated
VAR_049693 commonName VAR_049693
VAR_049693 disease not phenotype-associated
VAR_049695 commonName VAR_049695
VAR_049695 disease not phenotype-associated
VAR_049696 commonName VAR_049696
VAR_049696 disease not phenotype-associated
VAR_049697 commonName VAR_049697
VAR_049697 disease not phenotype-associated
VAR_049698 commonName VAR_049698
VAR_049698 disease not phenotype-associated
VAR_049699 commonName VAR_049699
VAR_049699 disease not phenotype-associated
VAR_049700 commonName VAR_049700
VAR_049700 disease not phenotype-associated
VAR_049701 commonName VAR_049701
VAR_049701 disease not phenotype-associated
VAR_049702 commonName VAR_049702
VAR_049702 disease not phenotype-associated
VAR_049703 commonName VAR_049703
VAR_049703 disease not phenotype-associated
VAR_049704 commonName VAR_049704
VAR_049704 disease not phenotype-associated
VAR_049705 commonName VAR_049705
VAR_049705 disease not phenotype-associated
VAR_049706 commonName VAR_049706
VAR_049706 disease not phenotype-associated
VAR_049707 commonName VAR_049707
VAR_049707 disease not phenotype-associated
VAR_049708 commonName VAR_049708
VAR_049708 disease not phenotype-associated
VAR_049709 commonName VAR_049709
VAR_049709 disease not phenotype-associated
VAR_049710 commonName VAR_049710
VAR_049710 disease not phenotype-associated
VAR_049712 commonName VAR_049712
VAR_049712 disease not phenotype-associated
VAR_049713 commonName VAR_049713
VAR_049713 disease not phenotype-associated
VAR_049714 commonName VAR_049714
VAR_049714 disease not phenotype-associated
VAR_049715 commonName VAR_049715
VAR_049715 disease not phenotype-associated
VAR_049717 commonName VAR_049717
VAR_049717 disease not phenotype-associated
VAR_049718 commonName VAR_049718
VAR_049718 disease not phenotype-associated
VAR_049719 commonName VAR_049719
VAR_049719 disease not phenotype-associated
VAR_049720 commonName VAR_049720
VAR_049720 disease not phenotype-associated
VAR_049722 commonName VAR_049722
VAR_049722 disease not phenotype-associated
VAR_049724 commonName VAR_049724
VAR_049724 disease not phenotype-associated
VAR_049725 commonName VAR_049725
VAR_049725 disease not phenotype-associated
VAR_049726 commonName VAR_049726
VAR_049726 disease not phenotype-associated
VAR_049727 commonName VAR_049727
VAR_049727 disease not phenotype-associated
VAR_049728 commonName VAR_049728
VAR_049728 disease not phenotype-associated
VAR_049729 commonName VAR_049729
VAR_049729 disease not phenotype-associated
VAR_049730 commonName VAR_049730
VAR_049730 disease not phenotype-associated
VAR_049732 commonName VAR_049732
VAR_049732 disease not phenotype-associated
VAR_049733 commonName VAR_049733
VAR_049733 disease not phenotype-associated
VAR_049734 commonName VAR_049734
VAR_049734 disease not phenotype-associated
VAR_049735 commonName VAR_049735
VAR_049735 disease not phenotype-associated
VAR_049736 commonName VAR_049736
VAR_049736 disease not phenotype-associated
VAR_049737 commonName VAR_049737
VAR_049737 disease not phenotype-associated
VAR_049738 commonName VAR_049738
VAR_049738 disease not phenotype-associated
VAR_049739 commonName VAR_049739
VAR_049739 disease not phenotype-associated
VAR_049740 commonName VAR_049740
VAR_049740 disease not phenotype-associated
VAR_049741 commonName VAR_049741
VAR_049741 disease not phenotype-associated
VAR_049742 commonName VAR_049742
VAR_049742 disease not phenotype-associated
VAR_049743 commonName VAR_049743
VAR_049743 disease not phenotype-associated
VAR_049744 commonName VAR_049744
VAR_049744 disease not phenotype-associated
VAR_049745 commonName VAR_049745
VAR_049745 disease not phenotype-associated
VAR_049746 commonName VAR_049746
VAR_049746 disease not phenotype-associated
VAR_049747 commonName VAR_049747
VAR_049747 disease not phenotype-associated
VAR_049748 commonName VAR_049748
VAR_049748 disease not phenotype-associated
VAR_049749 commonName VAR_049749
VAR_049749 disease not phenotype-associated
VAR_049750 commonName VAR_049750
VAR_049750 disease not phenotype-associated
VAR_049751 commonName VAR_049751
VAR_049751 disease not phenotype-associated
VAR_049752 commonName VAR_049752
VAR_049752 disease not phenotype-associated
VAR_049753 commonName VAR_049753
VAR_049753 disease not phenotype-associated
VAR_049754 commonName VAR_049754
VAR_049754 disease not phenotype-associated
VAR_049755 commonName VAR_049755
VAR_049755 disease not phenotype-associated
VAR_049756 commonName VAR_049756
VAR_049756 disease not phenotype-associated
VAR_049757 commonName VAR_049757
VAR_049757 disease not phenotype-associated
VAR_049758 commonName VAR_049758
VAR_049758 disease not phenotype-associated
VAR_049759 commonName VAR_049759
VAR_049759 disease not phenotype-associated
VAR_049760 commonName VAR_049760
VAR_049760 disease not phenotype-associated
VAR_049761 commonName VAR_049761
VAR_049761 disease not phenotype-associated
VAR_049762 commonName VAR_049762
VAR_049762 disease not phenotype-associated
VAR_049763 commonName VAR_049763
VAR_049763 disease not phenotype-associated
VAR_049764 commonName VAR_049764
VAR_049764 disease not phenotype-associated
VAR_049766 commonName VAR_049766
VAR_049766 disease not phenotype-associated
VAR_049767 commonName VAR_049767
VAR_049767 disease not phenotype-associated
VAR_049768 commonName VAR_049768
VAR_049768 disease not phenotype-associated
VAR_049769 commonName VAR_049769
VAR_049769 disease not phenotype-associated
VAR_049770 commonName VAR_049770
VAR_049770 disease not phenotype-associated
VAR_049771 commonName VAR_049771
VAR_049771 disease not phenotype-associated
VAR_049772 commonName VAR_049772
VAR_049772 disease not phenotype-associated
VAR_049773 commonName VAR_049773
VAR_049773 disease not phenotype-associated
VAR_049774 commonName VAR_049774
VAR_049774 disease not phenotype-associated
VAR_049775 commonName VAR_049775
VAR_049775 disease not phenotype-associated
VAR_049776 commonName VAR_049776
VAR_049776 disease not phenotype-associated
VAR_049777 commonName VAR_049777
VAR_049777 disease not phenotype-associated
VAR_049778 commonName VAR_049778
VAR_049778 disease phenotype-associated
VAR_049778 phenoCommon Cardiomyopathy dilated type 1T (CMD1T) [MIM:613740]
VAR_049779 commonName VAR_049779
VAR_049779 disease not phenotype-associated
VAR_049780 commonName VAR_049780
VAR_049780 disease not phenotype-associated
VAR_049781 commonName VAR_049781
VAR_049781 disease not phenotype-associated
VAR_049782 commonName VAR_049782
VAR_049782 disease not phenotype-associated
VAR_049783 commonName VAR_049783
VAR_049783 disease not phenotype-associated
VAR_049784 commonName VAR_049784
VAR_049784 disease not phenotype-associated
VAR_049786 commonName VAR_049786
VAR_049786 disease not phenotype-associated
VAR_049787 commonName VAR_049787
VAR_049787 disease not phenotype-associated
VAR_049788 commonName VAR_049788
VAR_049788 disease not phenotype-associated
VAR_049789 commonName VAR_049789
VAR_049789 disease not phenotype-associated
VAR_049790 commonName VAR_049790
VAR_049790 disease not phenotype-associated
VAR_049791 commonName VAR_049791
VAR_049791 disease not phenotype-associated
VAR_049792 commonName VAR_049792
VAR_049792 disease not phenotype-associated
VAR_049793 commonName VAR_049793
VAR_049793 disease not phenotype-associated
VAR_049794 commonName VAR_049794
VAR_049794 disease not phenotype-associated
VAR_049795 commonName VAR_049795
VAR_049795 disease not phenotype-associated
VAR_049796 commonName VAR_049796
VAR_049796 disease not phenotype-associated
VAR_049797 commonName VAR_049797
VAR_049797 disease not phenotype-associated
VAR_049798 commonName VAR_049798
VAR_049798 disease not phenotype-associated
VAR_049799 commonName VAR_049799
VAR_049799 disease not phenotype-associated
VAR_049800 commonName VAR_049800
VAR_049800 disease not phenotype-associated
VAR_049801 commonName VAR_049801
VAR_049801 disease not phenotype-associated
VAR_049802 commonName VAR_049802
VAR_049802 disease not phenotype-associated
VAR_049803 commonName VAR_049803
VAR_049803 disease not phenotype-associated
VAR_049804 commonName VAR_049804
VAR_049804 disease not phenotype-associated
VAR_049805 commonName VAR_049805
VAR_049805 disease not phenotype-associated
VAR_049806 commonName VAR_049806
VAR_049806 disease not phenotype-associated
VAR_049807 commonName VAR_049807
VAR_049807 disease not phenotype-associated
VAR_049808 commonName VAR_049808
VAR_049808 disease not phenotype-associated
VAR_049809 commonName VAR_049809
VAR_049809 disease not phenotype-associated
VAR_049810 commonName VAR_049810
VAR_049810 disease not phenotype-associated
VAR_049811 commonName VAR_049811
VAR_049811 disease not phenotype-associated
VAR_049812 commonName VAR_049812
VAR_049812 disease not phenotype-associated
VAR_049814 commonName VAR_049814
VAR_049814 disease not phenotype-associated
VAR_049815 commonName VAR_049815
VAR_049815 disease not phenotype-associated
VAR_049816 commonName VAR_049816
VAR_049816 disease not phenotype-associated
VAR_049817 commonName VAR_049817
VAR_049817 disease not phenotype-associated
VAR_049818 commonName VAR_049818
VAR_049818 disease not phenotype-associated
VAR_049819 commonName VAR_049819
VAR_049819 disease not phenotype-associated
VAR_049820 commonName VAR_049820
VAR_049820 disease not phenotype-associated
VAR_049822 commonName VAR_049822
VAR_049822 disease not phenotype-associated
VAR_049823 commonName VAR_049823
VAR_049823 disease not phenotype-associated
VAR_049824 commonName VAR_049824
VAR_049824 disease not phenotype-associated
VAR_049825 commonName VAR_049825
VAR_049825 disease not phenotype-associated
VAR_049826 commonName VAR_049826
VAR_049826 disease not phenotype-associated
VAR_049827 commonName VAR_049827
VAR_049827 disease not phenotype-associated
VAR_049828 commonName VAR_049828
VAR_049828 disease not phenotype-associated
VAR_049829 commonName VAR_049829
VAR_049829 disease not phenotype-associated
VAR_049830 commonName VAR_049830
VAR_049830 disease not phenotype-associated
VAR_049831 commonName VAR_049831
VAR_049831 disease not phenotype-associated
VAR_049832 commonName VAR_049832
VAR_049832 disease not phenotype-associated
VAR_049833 commonName VAR_049833
VAR_049833 disease not phenotype-associated
VAR_049834 commonName VAR_049834
VAR_049834 disease not phenotype-associated
VAR_049835 commonName VAR_049835
VAR_049835 disease not phenotype-associated
VAR_049836 commonName VAR_049836
VAR_049836 disease not phenotype-associated
VAR_049839 commonName VAR_049839
VAR_049839 disease not phenotype-associated
VAR_049840 commonName VAR_049840
VAR_049840 disease not phenotype-associated
VAR_049841 commonName VAR_049841
VAR_049841 disease not phenotype-associated
VAR_049842 commonName VAR_049842
VAR_049842 disease not phenotype-associated
VAR_049843 commonName VAR_049843
VAR_049843 disease not phenotype-associated
VAR_049844 commonName VAR_049844
VAR_049844 disease not phenotype-associated
VAR_049845 commonName VAR_049845
VAR_049845 disease not phenotype-associated
VAR_049846 commonName VAR_049846
VAR_049846 disease not phenotype-associated
VAR_049847 commonName VAR_049847
VAR_049847 disease not phenotype-associated
VAR_049848 commonName VAR_049848
VAR_049848 disease not phenotype-associated
VAR_049849 commonName VAR_049849
VAR_049849 disease not phenotype-associated
VAR_049850 commonName VAR_049850
VAR_049850 disease not phenotype-associated
VAR_049851 commonName VAR_049851
VAR_049851 disease not phenotype-associated
VAR_049852 commonName VAR_049852
VAR_049852 disease not phenotype-associated
VAR_049855 commonName VAR_049855
VAR_049855 disease not phenotype-associated
VAR_049856 commonName VAR_049856
VAR_049856 disease not phenotype-associated
VAR_049857 commonName VAR_049857
VAR_049857 disease not phenotype-associated
VAR_049858 commonName VAR_049858
VAR_049858 disease not phenotype-associated
VAR_049859 commonName VAR_049859
VAR_049859 disease not phenotype-associated
VAR_049860 commonName VAR_049860
VAR_049860 disease not phenotype-associated
VAR_049861 commonName VAR_049861
VAR_049861 disease not phenotype-associated
VAR_049862 commonName VAR_049862
VAR_049862 disease not phenotype-associated
VAR_049863 commonName VAR_049863
VAR_049863 disease not phenotype-associated
VAR_049864 commonName VAR_049864
VAR_049864 disease not phenotype-associated
VAR_049865 commonName VAR_049865
VAR_049865 disease not phenotype-associated
VAR_049866 commonName VAR_049866
VAR_049866 disease not phenotype-associated
VAR_049868 commonName VAR_049868
VAR_049868 disease not phenotype-associated
VAR_049869 commonName VAR_049869
VAR_049869 disease not phenotype-associated
VAR_049870 commonName VAR_049870
VAR_049870 disease not phenotype-associated
VAR_049871 commonName VAR_049871
VAR_049871 disease not phenotype-associated
VAR_049872 commonName VAR_049872
VAR_049872 disease not phenotype-associated
VAR_049873 commonName VAR_049873
VAR_049873 disease not phenotype-associated
VAR_049874 commonName VAR_049874
VAR_049874 disease not phenotype-associated
VAR_049875 commonName VAR_049875
VAR_049875 disease not phenotype-associated
VAR_049876 commonName VAR_049876
VAR_049876 disease not phenotype-associated
VAR_049877 commonName VAR_049877
VAR_049877 disease not phenotype-associated
VAR_049878 commonName VAR_049878
VAR_049878 disease not phenotype-associated
VAR_049879 commonName VAR_049879
VAR_049879 disease not phenotype-associated
VAR_049880 commonName VAR_049880
VAR_049880 disease not phenotype-associated
VAR_049881 commonName VAR_049881
VAR_049881 disease not phenotype-associated
VAR_049882 commonName VAR_049882
VAR_049882 disease not phenotype-associated
VAR_049883 commonName VAR_049883
VAR_049883 disease not phenotype-associated
VAR_049884 commonName VAR_049884
VAR_049884 disease not phenotype-associated
VAR_049885 commonName VAR_049885
VAR_049885 disease not phenotype-associated
VAR_049886 commonName VAR_049886
VAR_049886 disease not phenotype-associated
VAR_049887 commonName VAR_049887
VAR_049887 disease not phenotype-associated
VAR_049888 commonName VAR_049888
VAR_049888 disease not phenotype-associated
VAR_049889 commonName VAR_049889
VAR_049889 disease not phenotype-associated
VAR_049891 commonName VAR_049891
VAR_049891 disease not phenotype-associated
VAR_049892 commonName VAR_049892
VAR_049892 disease not phenotype-associated
VAR_049893 commonName VAR_049893
VAR_049893 disease not phenotype-associated
VAR_049894 commonName VAR_049894
VAR_049894 disease not phenotype-associated
VAR_049895 commonName VAR_049895
VAR_049895 disease not phenotype-associated
VAR_049896 commonName VAR_049896
VAR_049896 disease not phenotype-associated
VAR_049897 commonName VAR_049897
VAR_049897 disease not phenotype-associated
VAR_049898 commonName VAR_049898
VAR_049898 disease not phenotype-associated
VAR_049899 commonName VAR_049899
VAR_049899 disease not phenotype-associated
VAR_049900 commonName VAR_049900
VAR_049900 disease not phenotype-associated
VAR_049901 commonName VAR_049901
VAR_049901 disease not phenotype-associated
VAR_049902 commonName VAR_049902
VAR_049902 disease not phenotype-associated
VAR_049903 commonName VAR_049903
VAR_049903 disease not phenotype-associated
VAR_049904 commonName VAR_049904
VAR_049904 disease not phenotype-associated
VAR_049905 commonName VAR_049905
VAR_049905 disease not phenotype-associated
VAR_049906 commonName VAR_049906
VAR_049906 disease not phenotype-associated
VAR_049907 commonName VAR_049907
VAR_049907 disease not phenotype-associated
VAR_049908 commonName VAR_049908
VAR_049908 disease not phenotype-associated
VAR_049909 commonName VAR_049909
VAR_049909 disease not phenotype-associated
VAR_049910 commonName VAR_049910
VAR_049910 disease not phenotype-associated
VAR_049911 commonName VAR_049911
VAR_049911 disease not phenotype-associated
VAR_049912 commonName VAR_049912
VAR_049912 disease not phenotype-associated
VAR_049913 commonName VAR_049913
VAR_049913 disease not phenotype-associated
VAR_049914 commonName VAR_049914
VAR_049914 disease not phenotype-associated
VAR_049915 commonName VAR_049915
VAR_049915 disease not phenotype-associated
VAR_049916 commonName VAR_049916
VAR_049916 disease not phenotype-associated
VAR_049917 commonName VAR_049917
VAR_049917 disease not phenotype-associated
VAR_049918 commonName VAR_049918
VAR_049918 disease not phenotype-associated
VAR_049919 commonName VAR_049919
VAR_049919 disease not phenotype-associated
VAR_049920 commonName VAR_049920
VAR_049920 disease not phenotype-associated
VAR_049921 commonName VAR_049921
VAR_049921 disease not phenotype-associated
VAR_049922 commonName VAR_049922
VAR_049922 disease not phenotype-associated
VAR_049923 commonName VAR_049923
VAR_049923 disease not phenotype-associated
VAR_049924 commonName VAR_049924
VAR_049924 disease not phenotype-associated
VAR_049928 commonName VAR_049928
VAR_049928 disease not phenotype-associated
VAR_049929 commonName VAR_049929
VAR_049929 disease not phenotype-associated
VAR_049930 commonName VAR_049930
VAR_049930 disease not phenotype-associated
VAR_049931 commonName VAR_049931
VAR_049931 disease not phenotype-associated
VAR_049932 commonName VAR_049932
VAR_049932 disease not phenotype-associated
VAR_049933 commonName VAR_049933
VAR_049933 disease not phenotype-associated
VAR_049936 commonName VAR_049936
VAR_049936 disease not phenotype-associated
VAR_049937 commonName VAR_049937
VAR_049937 disease not phenotype-associated
VAR_049938 commonName VAR_049938
VAR_049938 disease not phenotype-associated
VAR_049939 commonName VAR_049939
VAR_049939 disease not phenotype-associated
VAR_049940 commonName VAR_049940
VAR_049940 disease not phenotype-associated
VAR_049941 commonName VAR_049941
VAR_049941 disease not phenotype-associated
VAR_049942 commonName VAR_049942
VAR_049942 disease not phenotype-associated
VAR_049943 commonName VAR_049943
VAR_049943 disease not phenotype-associated
VAR_049944 commonName VAR_049944
VAR_049944 disease not phenotype-associated
VAR_049945 commonName VAR_049945
VAR_049945 disease not phenotype-associated
VAR_049946 commonName VAR_049946
VAR_049946 disease not phenotype-associated
VAR_049947 commonName VAR_049947
VAR_049947 disease not phenotype-associated
VAR_049948 commonName VAR_049948
VAR_049948 disease not phenotype-associated
VAR_049949 commonName VAR_049949
VAR_049949 disease not phenotype-associated
VAR_049950 commonName VAR_049950
VAR_049950 disease not phenotype-associated
VAR_049951 commonName VAR_049951
VAR_049951 disease not phenotype-associated
VAR_049952 commonName VAR_049952
VAR_049952 disease not phenotype-associated
VAR_049953 commonName VAR_049953
VAR_049953 disease not phenotype-associated
VAR_049954 commonName VAR_049954
VAR_049954 disease not phenotype-associated
VAR_049955 commonName VAR_049955
VAR_049955 disease not phenotype-associated
VAR_049956 commonName VAR_049956
VAR_049956 disease not phenotype-associated
VAR_049957 commonName VAR_049957
VAR_049957 disease not phenotype-associated
VAR_049958 commonName VAR_049958
VAR_049958 disease not phenotype-associated
VAR_049960 commonName VAR_049960
VAR_049960 disease not phenotype-associated
VAR_049961 commonName VAR_049961
VAR_049961 disease not phenotype-associated
VAR_049962 commonName VAR_049962
VAR_049962 disease not phenotype-associated
VAR_049963 commonName VAR_049963
VAR_049963 disease not phenotype-associated
VAR_049964 commonName VAR_049964
VAR_049964 disease not phenotype-associated
VAR_049965 commonName VAR_049965
VAR_049965 disease not phenotype-associated
VAR_049966 commonName VAR_049966
VAR_049966 disease not phenotype-associated
VAR_049967 commonName VAR_049967
VAR_049967 disease not phenotype-associated
VAR_049970 commonName VAR_049970
VAR_049970 disease not phenotype-associated
VAR_049971 commonName VAR_049971
VAR_049971 disease not phenotype-associated
VAR_049972 commonName VAR_049972
VAR_049972 disease not phenotype-associated
VAR_049973 commonName VAR_049973
VAR_049973 disease not phenotype-associated
VAR_049974 commonName VAR_049974
VAR_049974 disease not phenotype-associated
VAR_049975 commonName VAR_049975
VAR_049975 disease not phenotype-associated
VAR_049978 commonName VAR_049978
VAR_049978 disease not phenotype-associated
VAR_049979 commonName VAR_049979
VAR_049979 disease not phenotype-associated
VAR_049980 commonName VAR_049980
VAR_049980 disease not phenotype-associated
VAR_049981 commonName VAR_049981
VAR_049981 disease not phenotype-associated
VAR_049982 commonName VAR_049982
VAR_049982 disease not phenotype-associated
VAR_049983 commonName VAR_049983
VAR_049983 disease not phenotype-associated
VAR_049984 commonName VAR_049984
VAR_049984 disease not phenotype-associated
VAR_049985 commonName VAR_049985
VAR_049985 disease not phenotype-associated
VAR_049986 commonName VAR_049986
VAR_049986 disease not phenotype-associated
VAR_049987 commonName VAR_049987
VAR_049987 disease not phenotype-associated
VAR_049988 commonName VAR_049988
VAR_049988 disease not phenotype-associated
VAR_049989 commonName VAR_049989
VAR_049989 disease not phenotype-associated
VAR_049990 commonName VAR_049990
VAR_049990 disease not phenotype-associated
VAR_049991 commonName VAR_049991
VAR_049991 disease not phenotype-associated
VAR_049992 commonName VAR_049992
VAR_049992 disease not phenotype-associated
VAR_049994 commonName VAR_049994
VAR_049994 disease not phenotype-associated
VAR_049995 commonName VAR_049995
VAR_049995 disease not phenotype-associated
VAR_049996 commonName VAR_049996
VAR_049996 disease not phenotype-associated
VAR_049997 commonName VAR_049997
VAR_049997 disease not phenotype-associated
VAR_049998 commonName VAR_049998
VAR_049998 disease not phenotype-associated
VAR_050000 commonName VAR_050000
VAR_050000 disease not phenotype-associated
VAR_050001 commonName VAR_050001
VAR_050001 disease not phenotype-associated
VAR_050002 commonName VAR_050002
VAR_050002 disease not phenotype-associated
VAR_050003 commonName VAR_050003
VAR_050003 disease not phenotype-associated
VAR_050004 commonName VAR_050004
VAR_050004 disease not phenotype-associated
VAR_050005 commonName VAR_050005
VAR_050005 disease not phenotype-associated
VAR_050007 commonName VAR_050007
VAR_050007 disease not phenotype-associated
VAR_050008 commonName VAR_050008
VAR_050008 disease not phenotype-associated
VAR_050009 commonName VAR_050009
VAR_050009 disease not phenotype-associated
VAR_050010 commonName VAR_050010
VAR_050010 disease not phenotype-associated
VAR_050012 commonName VAR_050012
VAR_050012 disease not phenotype-associated
VAR_050013 commonName VAR_050013
VAR_050013 disease not phenotype-associated
VAR_050015 commonName VAR_050015
VAR_050015 disease not phenotype-associated
VAR_050016 commonName VAR_050016
VAR_050016 disease not phenotype-associated
VAR_050017 commonName VAR_050017
VAR_050017 disease not phenotype-associated
VAR_050018 commonName VAR_050018
VAR_050018 disease not phenotype-associated
VAR_050019 commonName VAR_050019
VAR_050019 disease not phenotype-associated
VAR_050020 commonName VAR_050020
VAR_050020 disease not phenotype-associated
VAR_050021 commonName VAR_050021
VAR_050021 disease not phenotype-associated
VAR_050022 commonName VAR_050022
VAR_050022 disease not phenotype-associated
VAR_050023 commonName VAR_050023
VAR_050023 disease not phenotype-associated
VAR_050024 commonName VAR_050024
VAR_050024 disease not phenotype-associated
VAR_050025 commonName VAR_050025
VAR_050025 disease not phenotype-associated
VAR_050027 commonName VAR_050027
VAR_050027 disease not phenotype-associated
VAR_050028 commonName VAR_050028
VAR_050028 disease not phenotype-associated
VAR_050029 commonName VAR_050029
VAR_050029 disease not phenotype-associated
VAR_050030 commonName VAR_050030
VAR_050030 disease not phenotype-associated
VAR_050031 commonName VAR_050031
VAR_050031 disease not phenotype-associated
VAR_050032 commonName VAR_050032
VAR_050032 disease not phenotype-associated
VAR_050033 commonName VAR_050033
VAR_050033 disease not phenotype-associated
VAR_050037 commonName VAR_050037
VAR_050037 disease not phenotype-associated
VAR_050038 commonName VAR_050038
VAR_050038 disease not phenotype-associated
VAR_050039 commonName VAR_050039
VAR_050039 disease not phenotype-associated
VAR_050040 commonName VAR_050040
VAR_050040 disease not phenotype-associated
VAR_050041 commonName VAR_050041
VAR_050041 disease not phenotype-associated
VAR_050042 commonName VAR_050042
VAR_050042 disease not phenotype-associated
VAR_050043 commonName VAR_050043
VAR_050043 disease not phenotype-associated
VAR_050044 commonName VAR_050044
VAR_050044 disease not phenotype-associated
VAR_050045 commonName VAR_050045
VAR_050045 disease not phenotype-associated
VAR_050046 commonName VAR_050046
VAR_050046 disease not phenotype-associated
VAR_050047 commonName VAR_050047
VAR_050047 disease not phenotype-associated
VAR_050048 commonName VAR_050048
VAR_050048 disease not phenotype-associated
VAR_050049 commonName VAR_050049
VAR_050049 disease not phenotype-associated
VAR_050050 commonName VAR_050050
VAR_050050 disease not phenotype-associated
VAR_050051 commonName VAR_050051
VAR_050051 disease not phenotype-associated
VAR_050052 commonName VAR_050052
VAR_050052 disease not phenotype-associated
VAR_050053 commonName VAR_050053
VAR_050053 disease not phenotype-associated
VAR_050054 commonName VAR_050054
VAR_050054 disease not phenotype-associated
VAR_050055 commonName VAR_050055
VAR_050055 disease not phenotype-associated
VAR_050056 commonName VAR_050056
VAR_050056 disease not phenotype-associated
VAR_050057 commonName VAR_050057
VAR_050057 disease not phenotype-associated
VAR_050058 commonName VAR_050058
VAR_050058 disease not phenotype-associated
VAR_050059 commonName VAR_050059
VAR_050059 disease not phenotype-associated
VAR_050060 commonName VAR_050060
VAR_050060 disease not phenotype-associated
VAR_050061 commonName VAR_050061
VAR_050061 disease not phenotype-associated
VAR_050062 commonName VAR_050062
VAR_050062 disease not phenotype-associated
VAR_050063 commonName VAR_050063
VAR_050063 disease not phenotype-associated
VAR_050065 commonName VAR_050065
VAR_050065 disease not phenotype-associated
VAR_050066 commonName VAR_050066
VAR_050066 disease not phenotype-associated
VAR_050067 commonName VAR_050067
VAR_050067 disease not phenotype-associated
VAR_050068 commonName VAR_050068
VAR_050068 disease not phenotype-associated
VAR_050069 commonName VAR_050069
VAR_050069 disease not phenotype-associated
VAR_050070 commonName VAR_050070
VAR_050070 disease not phenotype-associated
VAR_050071 commonName VAR_050071
VAR_050071 disease not phenotype-associated
VAR_050072 commonName VAR_050072
VAR_050072 disease not phenotype-associated
VAR_050076 commonName VAR_050076
VAR_050076 disease not phenotype-associated
VAR_050077 commonName VAR_050077
VAR_050077 disease not phenotype-associated
VAR_050078 commonName VAR_050078
VAR_050078 disease not phenotype-associated
VAR_050079 commonName VAR_050079
VAR_050079 disease not phenotype-associated
VAR_050080 commonName VAR_050080
VAR_050080 disease not phenotype-associated
VAR_050081 commonName VAR_050081
VAR_050081 disease not phenotype-associated
VAR_050082 commonName VAR_050082
VAR_050082 disease not phenotype-associated
VAR_050083 commonName VAR_050083
VAR_050083 disease not phenotype-associated
VAR_050084 commonName VAR_050084
VAR_050084 disease not phenotype-associated
VAR_050085 commonName VAR_050085
VAR_050085 disease not phenotype-associated
VAR_050086 commonName VAR_050086
VAR_050086 disease not phenotype-associated
VAR_050087 commonName VAR_050087
VAR_050087 disease not phenotype-associated
VAR_050088 commonName VAR_050088
VAR_050088 disease not phenotype-associated
VAR_050089 commonName VAR_050089
VAR_050089 disease not phenotype-associated
VAR_050090 commonName VAR_050090
VAR_050090 disease not phenotype-associated
VAR_050091 commonName VAR_050091
VAR_050091 disease not phenotype-associated
VAR_050092 commonName VAR_050092
VAR_050092 disease not phenotype-associated
VAR_050093 commonName VAR_050093
VAR_050093 disease not phenotype-associated
VAR_050094 commonName VAR_050094
VAR_050094 disease not phenotype-associated
VAR_050095 commonName VAR_050095
VAR_050095 disease not phenotype-associated
VAR_050096 commonName VAR_050096
VAR_050096 disease not phenotype-associated
VAR_050097 commonName VAR_050097
VAR_050097 disease not phenotype-associated
VAR_050099 commonName VAR_050099
VAR_050099 disease not phenotype-associated
VAR_050100 commonName VAR_050100
VAR_050100 disease not phenotype-associated
VAR_050102 commonName VAR_050102
VAR_050102 disease not phenotype-associated
VAR_050103 commonName VAR_050103
VAR_050103 disease not phenotype-associated
VAR_050104 commonName VAR_050104
VAR_050104 disease not phenotype-associated
VAR_050105 commonName VAR_050105
VAR_050105 disease not phenotype-associated
VAR_050106 commonName VAR_050106
VAR_050106 disease not phenotype-associated
VAR_050110 commonName VAR_050110
VAR_050110 disease not phenotype-associated
VAR_050111 commonName VAR_050111
VAR_050111 disease not phenotype-associated
VAR_050112 commonName VAR_050112
VAR_050112 disease not phenotype-associated
VAR_050113 commonName VAR_050113
VAR_050113 disease not phenotype-associated
VAR_050114 commonName VAR_050114
VAR_050114 disease not phenotype-associated
VAR_050115 commonName VAR_050115
VAR_050115 disease not phenotype-associated
VAR_050116 commonName VAR_050116
VAR_050116 disease not phenotype-associated
VAR_050117 commonName VAR_050117
VAR_050117 disease not phenotype-associated
VAR_050118 commonName VAR_050118
VAR_050118 disease not phenotype-associated
VAR_050119 commonName VAR_050119
VAR_050119 disease not phenotype-associated
VAR_050120 commonName VAR_050120
VAR_050120 disease not phenotype-associated
VAR_050121 commonName VAR_050121
VAR_050121 disease not phenotype-associated
VAR_050122 commonName VAR_050122
VAR_050122 disease not phenotype-associated
VAR_050123 commonName VAR_050123
VAR_050123 disease not phenotype-associated
VAR_050124 commonName VAR_050124
VAR_050124 disease not phenotype-associated
VAR_050125 commonName VAR_050125
VAR_050125 disease not phenotype-associated
VAR_050126 commonName VAR_050126
VAR_050126 disease not phenotype-associated
VAR_050127 commonName VAR_050127
VAR_050127 disease not phenotype-associated
VAR_050128 commonName VAR_050128
VAR_050128 disease not phenotype-associated
VAR_050130 commonName VAR_050130
VAR_050130 disease not phenotype-associated
VAR_050131 commonName VAR_050131
VAR_050131 disease not phenotype-associated
VAR_050132 commonName VAR_050132
VAR_050132 disease not phenotype-associated
VAR_050134 commonName VAR_050134
VAR_050134 disease not phenotype-associated
VAR_050136 commonName VAR_050136
VAR_050136 disease not phenotype-associated
VAR_050137 commonName VAR_050137
VAR_050137 disease not phenotype-associated
VAR_050138 commonName VAR_050138
VAR_050138 disease not phenotype-associated
VAR_050139 commonName VAR_050139
VAR_050139 disease not phenotype-associated
VAR_050141 commonName VAR_050141
VAR_050141 disease not phenotype-associated
VAR_050142 commonName VAR_050142
VAR_050142 disease not phenotype-associated
VAR_050143 commonName VAR_050143
VAR_050143 disease not phenotype-associated
VAR_050144 commonName VAR_050144
VAR_050144 disease not phenotype-associated
VAR_050145 commonName VAR_050145
VAR_050145 disease not phenotype-associated
VAR_050146 commonName VAR_050146
VAR_050146 disease not phenotype-associated
VAR_050147 commonName VAR_050147
VAR_050147 disease not phenotype-associated
VAR_050148 commonName VAR_050148
VAR_050148 disease not phenotype-associated
VAR_050149 commonName VAR_050149
VAR_050149 disease not phenotype-associated
VAR_050150 commonName VAR_050150
VAR_050150 disease not phenotype-associated
VAR_050151 commonName VAR_050151
VAR_050151 disease not phenotype-associated
VAR_050152 commonName VAR_050152
VAR_050152 disease not phenotype-associated
VAR_050153 commonName VAR_050153
VAR_050153 disease not phenotype-associated
VAR_050154 commonName VAR_050154
VAR_050154 disease not phenotype-associated
VAR_050155 commonName VAR_050155
VAR_050155 disease not phenotype-associated
VAR_050156 commonName VAR_050156
VAR_050156 disease not phenotype-associated
VAR_050158 commonName VAR_050158
VAR_050158 disease not phenotype-associated
VAR_050159 commonName VAR_050159
VAR_050159 disease not phenotype-associated
VAR_050160 commonName VAR_050160
VAR_050160 disease not phenotype-associated
VAR_050161 commonName VAR_050161
VAR_050161 disease not phenotype-associated
VAR_050162 commonName VAR_050162
VAR_050162 disease not phenotype-associated
VAR_050163 commonName VAR_050163
VAR_050163 disease not phenotype-associated
VAR_050164 commonName VAR_050164
VAR_050164 disease not phenotype-associated
VAR_050165 commonName VAR_050165
VAR_050165 disease not phenotype-associated
VAR_050166 commonName VAR_050166
VAR_050166 disease not phenotype-associated
VAR_050167 commonName VAR_050167
VAR_050167 disease not phenotype-associated
VAR_050168 commonName VAR_050168
VAR_050168 disease not phenotype-associated
VAR_050169 commonName VAR_050169
VAR_050169 disease not phenotype-associated
VAR_050170 commonName VAR_050170
VAR_050170 disease not phenotype-associated
VAR_050171 commonName VAR_050171
VAR_050171 disease not phenotype-associated
VAR_050172 commonName VAR_050172
VAR_050172 disease not phenotype-associated
VAR_050173 commonName VAR_050173
VAR_050173 disease not phenotype-associated
VAR_050174 commonName VAR_050174
VAR_050174 disease not phenotype-associated
VAR_050175 commonName VAR_050175
VAR_050175 disease not phenotype-associated
VAR_050176 commonName VAR_050176
VAR_050176 disease not phenotype-associated
VAR_050178 commonName VAR_050178
VAR_050178 disease not phenotype-associated
VAR_050181 commonName VAR_050181
VAR_050181 disease not phenotype-associated
VAR_050182 commonName VAR_050182
VAR_050182 disease not phenotype-associated
VAR_050183 commonName VAR_050183
VAR_050183 disease not phenotype-associated
VAR_050184 commonName VAR_050184
VAR_050184 disease not phenotype-associated
VAR_050185 commonName VAR_050185
VAR_050185 disease not phenotype-associated
VAR_050186 commonName VAR_050186
VAR_050186 disease not phenotype-associated
VAR_050187 commonName VAR_050187
VAR_050187 disease not phenotype-associated
VAR_050188 commonName VAR_050188
VAR_050188 disease not phenotype-associated
VAR_050189 commonName VAR_050189
VAR_050189 disease not phenotype-associated
VAR_050190 commonName VAR_050190
VAR_050190 disease not phenotype-associated
VAR_050191 commonName VAR_050191
VAR_050191 disease not phenotype-associated
VAR_050192 commonName VAR_050192
VAR_050192 disease not phenotype-associated
VAR_050193 commonName VAR_050193
VAR_050193 disease not phenotype-associated
VAR_050194 commonName VAR_050194
VAR_050194 disease not phenotype-associated
VAR_050195 commonName VAR_050195
VAR_050195 disease not phenotype-associated
VAR_050196 commonName VAR_050196
VAR_050196 disease not phenotype-associated
VAR_050197 commonName VAR_050197
VAR_050197 disease not phenotype-associated
VAR_050198 commonName VAR_050198
VAR_050198 disease not phenotype-associated
VAR_050199 commonName VAR_050199
VAR_050199 disease not phenotype-associated
VAR_050200 commonName VAR_050200
VAR_050200 disease not phenotype-associated
VAR_050201 commonName VAR_050201
VAR_050201 disease not phenotype-associated
VAR_050202 commonName VAR_050202
VAR_050202 disease not phenotype-associated
VAR_050203 commonName VAR_050203
VAR_050203 disease not phenotype-associated
VAR_050204 commonName VAR_050204
VAR_050204 disease not phenotype-associated
VAR_050205 commonName VAR_050205
VAR_050205 disease not phenotype-associated
VAR_050206 commonName VAR_050206
VAR_050206 disease not phenotype-associated
VAR_050207 commonName VAR_050207
VAR_050207 disease not phenotype-associated
VAR_050208 commonName VAR_050208
VAR_050208 disease not phenotype-associated
VAR_050210 commonName VAR_050210
VAR_050210 disease not phenotype-associated
VAR_050211 commonName VAR_050211
VAR_050211 disease not phenotype-associated
VAR_050214 commonName VAR_050214
VAR_050214 disease not phenotype-associated
VAR_050215 commonName VAR_050215
VAR_050215 disease not phenotype-associated
VAR_050216 commonName VAR_050216
VAR_050216 disease not phenotype-associated
VAR_050217 commonName VAR_050217
VAR_050217 disease not phenotype-associated
VAR_050218 commonName VAR_050218
VAR_050218 disease not phenotype-associated
VAR_050219 commonName VAR_050219
VAR_050219 disease not phenotype-associated
VAR_050220 commonName VAR_050220
VAR_050220 disease not phenotype-associated
VAR_050221 commonName VAR_050221
VAR_050221 disease not phenotype-associated
VAR_050222 commonName VAR_050222
VAR_050222 disease not phenotype-associated
VAR_050223 commonName VAR_050223
VAR_050223 disease not phenotype-associated
VAR_050224 commonName VAR_050224
VAR_050224 disease not phenotype-associated
VAR_050226 commonName VAR_050226
VAR_050226 disease not phenotype-associated
VAR_050227 commonName VAR_050227
VAR_050227 disease not phenotype-associated
VAR_050228 commonName VAR_050228
VAR_050228 disease not phenotype-associated
VAR_050229 commonName VAR_050229
VAR_050229 disease not phenotype-associated
VAR_050230 commonName VAR_050230
VAR_050230 disease not phenotype-associated
VAR_050232 commonName VAR_050232
VAR_050232 disease not phenotype-associated
VAR_050233 commonName VAR_050233
VAR_050233 disease not phenotype-associated
VAR_050234 commonName VAR_050234
VAR_050234 disease not phenotype-associated
VAR_050235 commonName VAR_050235
VAR_050235 disease not phenotype-associated
VAR_050236 commonName VAR_050236
VAR_050236 disease not phenotype-associated
VAR_050237 commonName VAR_050237
VAR_050237 disease not phenotype-associated
VAR_050238 commonName VAR_050238
VAR_050238 disease not phenotype-associated
VAR_050239 commonName VAR_050239
VAR_050239 disease not phenotype-associated
VAR_050240 commonName VAR_050240
VAR_050240 disease not phenotype-associated
VAR_050241 commonName VAR_050241
VAR_050241 disease not phenotype-associated
VAR_050242 commonName VAR_050242
VAR_050242 disease not phenotype-associated
VAR_050243 commonName VAR_050243
VAR_050243 disease not phenotype-associated
VAR_050244 commonName VAR_050244
VAR_050244 disease not phenotype-associated
VAR_050245 commonName VAR_050245
VAR_050245 disease not phenotype-associated
VAR_050246 commonName VAR_050246
VAR_050246 disease not phenotype-associated
VAR_050247 commonName VAR_050247
VAR_050247 disease not phenotype-associated
VAR_050248 commonName VAR_050248
VAR_050248 disease not phenotype-associated
VAR_050249 commonName VAR_050249
VAR_050249 disease not phenotype-associated
VAR_050250 commonName VAR_050250
VAR_050250 disease not phenotype-associated
VAR_050251 commonName VAR_050251
VAR_050251 disease not phenotype-associated
VAR_050252 commonName VAR_050252
VAR_050252 disease not phenotype-associated
VAR_050253 commonName VAR_050253
VAR_050253 disease not phenotype-associated
VAR_050254 commonName VAR_050254
VAR_050254 disease not phenotype-associated
VAR_050255 commonName VAR_050255
VAR_050255 disease not phenotype-associated
VAR_050256 commonName VAR_050256
VAR_050256 disease not phenotype-associated
VAR_050257 commonName VAR_050257
VAR_050257 disease not phenotype-associated
VAR_050258 commonName VAR_050258
VAR_050258 disease not phenotype-associated
VAR_050259 commonName VAR_050259
VAR_050259 disease not phenotype-associated
VAR_050260 commonName VAR_050260
VAR_050260 disease not phenotype-associated
VAR_050261 commonName VAR_050261
VAR_050261 disease not phenotype-associated
VAR_050262 commonName VAR_050262
VAR_050262 disease not phenotype-associated
VAR_050263 commonName VAR_050263
VAR_050263 disease not phenotype-associated
VAR_050264 commonName VAR_050264
VAR_050264 disease not phenotype-associated
VAR_050265 commonName VAR_050265
VAR_050265 disease not phenotype-associated
VAR_050266 commonName VAR_050266
VAR_050266 disease not phenotype-associated
VAR_050267 commonName VAR_050267
VAR_050267 disease not phenotype-associated
VAR_050268 commonName VAR_050268
VAR_050268 disease not phenotype-associated
VAR_050269 commonName VAR_050269
VAR_050269 disease not phenotype-associated
VAR_050270 commonName VAR_050270
VAR_050270 disease not phenotype-associated
VAR_050271 commonName VAR_050271
VAR_050271 disease not phenotype-associated
VAR_050272 commonName VAR_050272
VAR_050272 disease not phenotype-associated
VAR_050273 commonName VAR_050273
VAR_050273 disease not phenotype-associated
VAR_050274 commonName VAR_050274
VAR_050274 disease not phenotype-associated
VAR_050275 commonName VAR_050275
VAR_050275 disease not phenotype-associated
VAR_050276 commonName VAR_050276
VAR_050276 disease not phenotype-associated
VAR_050277 commonName VAR_050277
VAR_050277 disease not phenotype-associated
VAR_050278 commonName VAR_050278
VAR_050278 disease not phenotype-associated
VAR_050279 commonName VAR_050279
VAR_050279 disease not phenotype-associated
VAR_050280 commonName VAR_050280
VAR_050280 disease not phenotype-associated
VAR_050281 commonName VAR_050281
VAR_050281 disease not phenotype-associated
VAR_050282 commonName VAR_050282
VAR_050282 disease not phenotype-associated
VAR_050283 commonName VAR_050283
VAR_050283 disease not phenotype-associated
VAR_050284 commonName VAR_050284
VAR_050284 disease not phenotype-associated
VAR_050285 commonName VAR_050285
VAR_050285 disease not phenotype-associated
VAR_050286 commonName VAR_050286
VAR_050286 disease not phenotype-associated
VAR_050287 commonName VAR_050287
VAR_050287 disease not phenotype-associated
VAR_050288 commonName VAR_050288
VAR_050288 disease not phenotype-associated
VAR_050289 commonName VAR_050289
VAR_050289 disease not phenotype-associated
VAR_050290 commonName VAR_050290
VAR_050290 disease not phenotype-associated
VAR_050291 commonName VAR_050291
VAR_050291 disease not phenotype-associated
VAR_050292 commonName VAR_050292
VAR_050292 disease not phenotype-associated
VAR_050293 commonName VAR_050293
VAR_050293 disease not phenotype-associated
VAR_050294 commonName VAR_050294
VAR_050294 disease not phenotype-associated
VAR_050295 commonName VAR_050295
VAR_050295 disease not phenotype-associated
VAR_050296 commonName VAR_050296
VAR_050296 disease not phenotype-associated
VAR_050297 commonName VAR_050297
VAR_050297 disease not phenotype-associated
VAR_050298 commonName VAR_050298
VAR_050298 disease not phenotype-associated
VAR_050299 commonName VAR_050299
VAR_050299 disease not phenotype-associated
VAR_050300 commonName VAR_050300
VAR_050300 disease not phenotype-associated
VAR_050301 commonName VAR_050301
VAR_050301 disease not phenotype-associated
VAR_050302 commonName VAR_050302
VAR_050302 disease not phenotype-associated
VAR_050303 commonName VAR_050303
VAR_050303 disease not phenotype-associated
VAR_050304 commonName VAR_050304
VAR_050304 disease not phenotype-associated
VAR_050305 commonName VAR_050305
VAR_050305 disease not phenotype-associated
VAR_050306 commonName VAR_050306
VAR_050306 disease not phenotype-associated
VAR_050307 commonName VAR_050307
VAR_050307 disease not phenotype-associated
VAR_050308 commonName VAR_050308
VAR_050308 disease not phenotype-associated
VAR_050309 commonName VAR_050309
VAR_050309 disease not phenotype-associated
VAR_050355 commonName VAR_050355
VAR_050355 disease not phenotype-associated
VAR_050356 commonName VAR_050356
VAR_050356 disease not phenotype-associated
VAR_050357 commonName VAR_050357
VAR_050357 disease not phenotype-associated
VAR_050358 commonName VAR_050358
VAR_050358 disease not phenotype-associated
VAR_050359 commonName VAR_050359
VAR_050359 disease not phenotype-associated
VAR_050407 commonName VAR_050407
VAR_050407 disease not phenotype-associated
VAR_050408 commonName VAR_050408
VAR_050408 disease not phenotype-associated
VAR_050409 commonName VAR_050409
VAR_050409 disease not phenotype-associated
VAR_050410 commonName VAR_050410
VAR_050410 disease not phenotype-associated
VAR_050411 commonName VAR_050411
VAR_050411 disease not phenotype-associated
VAR_050412 commonName VAR_050412
VAR_050412 disease not phenotype-associated
VAR_050414 commonName VAR_050414
VAR_050414 disease not phenotype-associated
VAR_050415 commonName VAR_050415
VAR_050415 disease not phenotype-associated
VAR_050416 commonName VAR_050416
VAR_050416 disease not phenotype-associated
VAR_050417 commonName VAR_050417
VAR_050417 disease not phenotype-associated
VAR_050418 commonName VAR_050418
VAR_050418 disease not phenotype-associated
VAR_050419 commonName VAR_050419
VAR_050419 disease not phenotype-associated
VAR_050420 commonName VAR_050420
VAR_050420 disease not phenotype-associated
VAR_050421 commonName VAR_050421
VAR_050421 disease not phenotype-associated
VAR_050422 commonName VAR_050422
VAR_050422 disease not phenotype-associated
VAR_050423 commonName VAR_050423
VAR_050423 disease not phenotype-associated
VAR_050424 commonName VAR_050424
VAR_050424 disease not phenotype-associated
VAR_050425 commonName VAR_050425
VAR_050425 disease not phenotype-associated
VAR_050426 commonName VAR_050426
VAR_050426 disease not phenotype-associated
VAR_050427 commonName VAR_050427
VAR_050427 disease not phenotype-associated
VAR_050428 commonName VAR_050428
VAR_050428 disease not phenotype-associated
VAR_050429 commonName VAR_050429
VAR_050429 disease not phenotype-associated
VAR_050430 commonName VAR_050430
VAR_050430 disease not phenotype-associated
VAR_050431 commonName VAR_050431
VAR_050431 disease not phenotype-associated
VAR_050432 commonName VAR_050432
VAR_050432 disease not phenotype-associated
VAR_050433 commonName VAR_050433
VAR_050433 disease not phenotype-associated
VAR_050434 commonName VAR_050434
VAR_050434 disease not phenotype-associated
VAR_050435 commonName VAR_050435
VAR_050435 disease not phenotype-associated
VAR_050436 commonName VAR_050436
VAR_050436 disease not phenotype-associated
VAR_050437 commonName VAR_050437
VAR_050437 disease not phenotype-associated
VAR_050438 commonName VAR_050438
VAR_050438 disease not phenotype-associated
VAR_050439 commonName VAR_050439
VAR_050439 disease not phenotype-associated
VAR_050440 commonName VAR_050440
VAR_050440 disease not phenotype-associated
VAR_050441 commonName VAR_050441
VAR_050441 disease not phenotype-associated
VAR_050442 commonName VAR_050442
VAR_050442 disease not phenotype-associated
VAR_050443 commonName VAR_050443
VAR_050443 disease not phenotype-associated
VAR_050444 commonName VAR_050444
VAR_050444 disease not phenotype-associated
VAR_050445 commonName VAR_050445
VAR_050445 disease not phenotype-associated
VAR_050448 commonName VAR_050448
VAR_050448 disease not phenotype-associated
VAR_050449 commonName VAR_050449
VAR_050449 disease not phenotype-associated
VAR_050450 commonName VAR_050450
VAR_050450 disease not phenotype-associated
VAR_050451 commonName VAR_050451
VAR_050451 disease not phenotype-associated
VAR_050452 commonName VAR_050452
VAR_050452 disease not phenotype-associated
VAR_050453 commonName VAR_050453
VAR_050453 disease not phenotype-associated
VAR_050454 commonName VAR_050454
VAR_050454 disease not phenotype-associated
VAR_050455 commonName VAR_050455
VAR_050455 disease not phenotype-associated
VAR_050456 commonName VAR_050456
VAR_050456 disease not phenotype-associated
VAR_050457 commonName VAR_050457
VAR_050457 disease not phenotype-associated
VAR_050458 commonName VAR_050458
VAR_050458 disease not phenotype-associated
VAR_050459 commonName VAR_050459
VAR_050459 disease not phenotype-associated
VAR_050460 commonName VAR_050460
VAR_050460 disease not phenotype-associated
VAR_050461 commonName VAR_050461
VAR_050461 disease not phenotype-associated
VAR_050462 commonName VAR_050462
VAR_050462 disease not phenotype-associated
VAR_050463 commonName VAR_050463
VAR_050463 disease not phenotype-associated
VAR_050464 commonName VAR_050464
VAR_050464 disease not phenotype-associated
VAR_050465 commonName VAR_050465
VAR_050465 disease not phenotype-associated
VAR_050467 commonName VAR_050467
VAR_050467 disease not phenotype-associated
VAR_050468 commonName VAR_050468
VAR_050468 disease not phenotype-associated
VAR_050469 commonName VAR_050469
VAR_050469 disease not phenotype-associated
VAR_050470 commonName VAR_050470
VAR_050470 disease not phenotype-associated
VAR_050472 commonName VAR_050472
VAR_050472 disease not phenotype-associated
VAR_050473 commonName VAR_050473
VAR_050473 disease not phenotype-associated
VAR_050474 commonName VAR_050474
VAR_050474 disease not phenotype-associated
VAR_050475 commonName VAR_050475
VAR_050475 disease not phenotype-associated
VAR_050476 commonName VAR_050476
VAR_050476 disease not phenotype-associated
VAR_050477 commonName VAR_050477
VAR_050477 disease not phenotype-associated
VAR_050478 commonName VAR_050478
VAR_050478 disease not phenotype-associated
VAR_050479 commonName VAR_050479
VAR_050479 disease not phenotype-associated
VAR_050480 commonName VAR_050480
VAR_050480 disease not phenotype-associated
VAR_050481 commonName VAR_050481
VAR_050481 disease not phenotype-associated
VAR_050482 commonName VAR_050482
VAR_050482 disease not phenotype-associated
VAR_050483 commonName VAR_050483
VAR_050483 disease not phenotype-associated
VAR_050484 commonName VAR_050484
VAR_050484 disease not phenotype-associated
VAR_050485 commonName VAR_050485
VAR_050485 disease not phenotype-associated
VAR_050486 commonName VAR_050486
VAR_050486 disease not phenotype-associated
VAR_050487 commonName VAR_050487
VAR_050487 disease not phenotype-associated
VAR_050488 commonName VAR_050488
VAR_050488 disease not phenotype-associated
VAR_050489 commonName VAR_050489
VAR_050489 disease not phenotype-associated
VAR_050490 commonName VAR_050490
VAR_050490 disease not phenotype-associated
VAR_050491 commonName VAR_050491
VAR_050491 disease not phenotype-associated
VAR_050492 commonName VAR_050492
VAR_050492 disease not phenotype-associated
VAR_050493 commonName VAR_050493
VAR_050493 disease not phenotype-associated
VAR_050494 commonName VAR_050494
VAR_050494 disease not phenotype-associated
VAR_050495 commonName VAR_050495
VAR_050495 disease not phenotype-associated
VAR_050496 commonName VAR_050496
VAR_050496 disease not phenotype-associated
VAR_050497 commonName VAR_050497
VAR_050497 disease not phenotype-associated
VAR_050498 commonName VAR_050498
VAR_050498 disease not phenotype-associated
VAR_050499 commonName VAR_050499
VAR_050499 disease not phenotype-associated
VAR_050500 commonName VAR_050500
VAR_050500 disease not phenotype-associated
VAR_050501 commonName VAR_050501
VAR_050501 disease not phenotype-associated
VAR_050502 commonName VAR_050502
VAR_050502 disease not phenotype-associated
VAR_050503 commonName VAR_050503
VAR_050503 disease not phenotype-associated
VAR_050504 commonName VAR_050504
VAR_050504 disease not phenotype-associated
VAR_050505 commonName VAR_050505
VAR_050505 disease not phenotype-associated
VAR_050506 commonName VAR_050506
VAR_050506 disease not phenotype-associated
VAR_050507 commonName VAR_050507
VAR_050507 disease not phenotype-associated
VAR_050508 commonName VAR_050508
VAR_050508 disease not phenotype-associated
VAR_050509 commonName VAR_050509
VAR_050509 disease not phenotype-associated
VAR_050510 commonName VAR_050510
VAR_050510 disease not phenotype-associated
VAR_050511 commonName VAR_050511
VAR_050511 disease not phenotype-associated
VAR_050513 commonName VAR_050513
VAR_050513 disease not phenotype-associated
VAR_050514 commonName VAR_050514
VAR_050514 disease not phenotype-associated
VAR_050515 commonName VAR_050515
VAR_050515 disease not phenotype-associated
VAR_050516 commonName VAR_050516
VAR_050516 disease not phenotype-associated
VAR_050517 commonName VAR_050517
VAR_050517 disease not phenotype-associated
VAR_050518 commonName VAR_050518
VAR_050518 disease not phenotype-associated
VAR_050520 commonName VAR_050520
VAR_050520 disease not phenotype-associated
VAR_050521 commonName VAR_050521
VAR_050521 disease not phenotype-associated
VAR_050522 commonName VAR_050522
VAR_050522 disease not phenotype-associated
VAR_050523 commonName VAR_050523
VAR_050523 disease not phenotype-associated
VAR_050524 commonName VAR_050524
VAR_050524 disease not phenotype-associated
VAR_050525 commonName VAR_050525
VAR_050525 disease not phenotype-associated
VAR_050526 commonName VAR_050526
VAR_050526 disease not phenotype-associated
VAR_050527 commonName VAR_050527
VAR_050527 disease not phenotype-associated
VAR_050528 commonName VAR_050528
VAR_050528 disease not phenotype-associated
VAR_050529 commonName VAR_050529
VAR_050529 disease not phenotype-associated
VAR_050530 commonName VAR_050530
VAR_050530 disease not phenotype-associated
VAR_050532 commonName VAR_050532
VAR_050532 disease not phenotype-associated
VAR_050533 commonName VAR_050533
VAR_050533 disease not phenotype-associated
VAR_050534 commonName VAR_050534
VAR_050534 disease not phenotype-associated
VAR_050535 commonName VAR_050535
VAR_050535 disease not phenotype-associated
VAR_050536 commonName VAR_050536
VAR_050536 disease not phenotype-associated
VAR_050537 commonName VAR_050537
VAR_050537 disease not phenotype-associated
VAR_050538 commonName VAR_050538
VAR_050538 disease not phenotype-associated
VAR_050539 commonName VAR_050539
VAR_050539 disease not phenotype-associated
VAR_050540 commonName VAR_050540
VAR_050540 disease not phenotype-associated
VAR_050543 commonName VAR_050543
VAR_050543 disease not phenotype-associated
VAR_050544 commonName VAR_050544
VAR_050544 disease not phenotype-associated
VAR_050545 commonName VAR_050545
VAR_050545 disease not phenotype-associated
VAR_050546 commonName VAR_050546
VAR_050546 disease not phenotype-associated
VAR_050547 commonName VAR_050547
VAR_050547 disease not phenotype-associated
VAR_050548 commonName VAR_050548
VAR_050548 disease not phenotype-associated
VAR_050549 commonName VAR_050549
VAR_050549 disease not phenotype-associated
VAR_050550 commonName VAR_050550
VAR_050550 disease not phenotype-associated
VAR_050551 commonName VAR_050551
VAR_050551 disease not phenotype-associated
VAR_050552 commonName VAR_050552
VAR_050552 disease not phenotype-associated
VAR_050553 commonName VAR_050553
VAR_050553 disease not phenotype-associated
VAR_050554 commonName VAR_050554
VAR_050554 disease not phenotype-associated
VAR_050555 commonName VAR_050555
VAR_050555 disease not phenotype-associated
VAR_050556 commonName VAR_050556
VAR_050556 disease not phenotype-associated
VAR_050557 commonName VAR_050557
VAR_050557 disease not phenotype-associated
VAR_050559 commonName VAR_050559
VAR_050559 disease not phenotype-associated
VAR_050560 commonName VAR_050560
VAR_050560 disease not phenotype-associated
VAR_050561 commonName VAR_050561
VAR_050561 disease not phenotype-associated
VAR_050562 commonName VAR_050562
VAR_050562 disease not phenotype-associated
VAR_050563 commonName VAR_050563
VAR_050563 disease not phenotype-associated
VAR_050565 commonName VAR_050565
VAR_050565 disease not phenotype-associated
VAR_050566 commonName VAR_050566
VAR_050566 disease not phenotype-associated
VAR_050567 commonName VAR_050567
VAR_050567 disease not phenotype-associated
VAR_050568 commonName VAR_050568
VAR_050568 disease not phenotype-associated
VAR_050569 commonName VAR_050569
VAR_050569 disease not phenotype-associated
VAR_050570 commonName VAR_050570
VAR_050570 disease not phenotype-associated
VAR_050571 commonName VAR_050571
VAR_050571 disease not phenotype-associated
VAR_050572 commonName VAR_050572
VAR_050572 disease not phenotype-associated
VAR_050573 commonName VAR_050573
VAR_050573 disease not phenotype-associated
VAR_050574 commonName VAR_050574
VAR_050574 disease not phenotype-associated
VAR_050575 commonName VAR_050575
VAR_050575 disease not phenotype-associated
VAR_050576 commonName VAR_050576
VAR_050576 disease not phenotype-associated
VAR_050577 commonName VAR_050577
VAR_050577 disease not phenotype-associated
VAR_050580 commonName VAR_050580
VAR_050580 disease not phenotype-associated
VAR_050581 commonName VAR_050581
VAR_050581 disease not phenotype-associated
VAR_050582 commonName VAR_050582
VAR_050582 disease not phenotype-associated
VAR_050584 commonName VAR_050584
VAR_050584 disease not phenotype-associated
VAR_050585 commonName VAR_050585
VAR_050585 disease not phenotype-associated
VAR_050586 commonName VAR_050586
VAR_050586 disease not phenotype-associated
VAR_050587 commonName VAR_050587
VAR_050587 disease not phenotype-associated
VAR_050588 commonName VAR_050588
VAR_050588 disease not phenotype-associated
VAR_050589 commonName VAR_050589
VAR_050589 disease not phenotype-associated
VAR_050590 commonName VAR_050590
VAR_050590 disease not phenotype-associated
VAR_050591 commonName VAR_050591
VAR_050591 disease not phenotype-associated
VAR_050592 commonName VAR_050592
VAR_050592 disease not phenotype-associated
VAR_050595 commonName VAR_050595
VAR_050595 disease not phenotype-associated
VAR_050596 commonName VAR_050596
VAR_050596 disease not phenotype-associated
VAR_050597 commonName VAR_050597
VAR_050597 disease not phenotype-associated
VAR_050598 commonName VAR_050598
VAR_050598 disease not phenotype-associated
VAR_050599 commonName VAR_050599
VAR_050599 disease not phenotype-associated
VAR_050600 commonName VAR_050600
VAR_050600 disease not phenotype-associated
VAR_050601 commonName VAR_050601
VAR_050601 disease not phenotype-associated
VAR_050602 commonName VAR_050602
VAR_050602 disease not phenotype-associated
VAR_050603 commonName VAR_050603
VAR_050603 disease not phenotype-associated
VAR_050604 commonName VAR_050604
VAR_050604 disease not phenotype-associated
VAR_050605 commonName VAR_050605
VAR_050605 disease not phenotype-associated
VAR_050606 commonName VAR_050606
VAR_050606 disease not phenotype-associated
VAR_050607 commonName VAR_050607
VAR_050607 disease not phenotype-associated
VAR_050608 commonName VAR_050608
VAR_050608 disease not phenotype-associated
VAR_050609 commonName VAR_050609
VAR_050609 disease not phenotype-associated
VAR_050610 commonName VAR_050610
VAR_050610 disease not phenotype-associated
VAR_050611 commonName VAR_050611
VAR_050611 disease not phenotype-associated
VAR_050612 commonName VAR_050612
VAR_050612 disease not phenotype-associated
VAR_050613 commonName VAR_050613
VAR_050613 disease not phenotype-associated
VAR_050614 commonName VAR_050614
VAR_050614 disease not phenotype-associated
VAR_050615 commonName VAR_050615
VAR_050615 disease not phenotype-associated
VAR_050616 commonName VAR_050616
VAR_050616 disease not phenotype-associated
VAR_050617 commonName VAR_050617
VAR_050617 disease not phenotype-associated
VAR_050618 commonName VAR_050618
VAR_050618 disease not phenotype-associated
VAR_050619 commonName VAR_050619
VAR_050619 disease not phenotype-associated
VAR_050620 commonName VAR_050620
VAR_050620 disease not phenotype-associated
VAR_050621 commonName VAR_050621
VAR_050621 disease not phenotype-associated
VAR_050623 commonName VAR_050623
VAR_050623 disease not phenotype-associated
VAR_050624 commonName VAR_050624
VAR_050624 disease not phenotype-associated
VAR_050625 commonName VAR_050625
VAR_050625 disease not phenotype-associated
VAR_050626 commonName VAR_050626
VAR_050626 disease not phenotype-associated
VAR_050627 commonName VAR_050627
VAR_050627 disease not phenotype-associated
VAR_050628 commonName VAR_050628
VAR_050628 disease not phenotype-associated
VAR_050629 commonName VAR_050629
VAR_050629 disease not phenotype-associated
VAR_050630 commonName VAR_050630
VAR_050630 disease not phenotype-associated
VAR_050631 commonName VAR_050631
VAR_050631 disease not phenotype-associated
VAR_050632 commonName VAR_050632
VAR_050632 disease not phenotype-associated
VAR_050633 commonName VAR_050633
VAR_050633 disease not phenotype-associated
VAR_050634 commonName VAR_050634
VAR_050634 disease not phenotype-associated
VAR_050635 commonName VAR_050635
VAR_050635 disease not phenotype-associated
VAR_050636 commonName VAR_050636
VAR_050636 disease not phenotype-associated
VAR_050637 commonName VAR_050637
VAR_050637 disease not phenotype-associated
VAR_050638 commonName VAR_050638
VAR_050638 disease not phenotype-associated
VAR_050639 commonName VAR_050639
VAR_050639 disease not phenotype-associated
VAR_050640 commonName VAR_050640
VAR_050640 disease not phenotype-associated
VAR_050641 commonName VAR_050641
VAR_050641 disease not phenotype-associated
VAR_050642 commonName VAR_050642
VAR_050642 disease not phenotype-associated
VAR_050643 commonName VAR_050643
VAR_050643 disease not phenotype-associated
VAR_050644 commonName VAR_050644
VAR_050644 disease not phenotype-associated
VAR_050645 commonName VAR_050645
VAR_050645 disease not phenotype-associated
VAR_050646 commonName VAR_050646
VAR_050646 disease not phenotype-associated
VAR_050647 commonName VAR_050647
VAR_050647 disease not phenotype-associated
VAR_050648 commonName VAR_050648
VAR_050648 disease not phenotype-associated
VAR_050650 commonName VAR_050650
VAR_050650 disease not phenotype-associated
VAR_050651 commonName VAR_050651
VAR_050651 disease not phenotype-associated
VAR_050652 commonName VAR_050652
VAR_050652 disease not phenotype-associated
VAR_050653 commonName VAR_050653
VAR_050653 disease not phenotype-associated
VAR_050654 commonName VAR_050654
VAR_050654 disease not phenotype-associated
VAR_050655 commonName VAR_050655
VAR_050655 disease not phenotype-associated
VAR_050656 commonName VAR_050656
VAR_050656 disease not phenotype-associated
VAR_050657 commonName VAR_050657
VAR_050657 disease not phenotype-associated
VAR_050658 commonName VAR_050658
VAR_050658 disease not phenotype-associated
VAR_050659 commonName VAR_050659
VAR_050659 disease not phenotype-associated
VAR_050660 commonName VAR_050660
VAR_050660 disease not phenotype-associated
VAR_050661 commonName VAR_050661
VAR_050661 disease not phenotype-associated
VAR_050662 commonName VAR_050662
VAR_050662 disease not phenotype-associated
VAR_050663 commonName VAR_050663
VAR_050663 disease not phenotype-associated
VAR_050664 commonName VAR_050664
VAR_050664 disease not phenotype-associated
VAR_050665 commonName VAR_050665
VAR_050665 disease not phenotype-associated
VAR_050666 commonName VAR_050666
VAR_050666 disease not phenotype-associated
VAR_050667 commonName VAR_050667
VAR_050667 disease not phenotype-associated
VAR_050668 commonName VAR_050668
VAR_050668 disease not phenotype-associated
VAR_050669 commonName VAR_050669
VAR_050669 disease not phenotype-associated
VAR_050670 commonName VAR_050670
VAR_050670 disease not phenotype-associated
VAR_050672 commonName VAR_050672
VAR_050672 disease not phenotype-associated
VAR_050674 commonName VAR_050674
VAR_050674 disease not phenotype-associated
VAR_050675 commonName VAR_050675
VAR_050675 disease not phenotype-associated
VAR_050676 commonName VAR_050676
VAR_050676 disease not phenotype-associated
VAR_050677 commonName VAR_050677
VAR_050677 disease not phenotype-associated
VAR_050678 commonName VAR_050678
VAR_050678 disease not phenotype-associated
VAR_050679 commonName VAR_050679
VAR_050679 disease not phenotype-associated
VAR_050680 commonName VAR_050680
VAR_050680 disease not phenotype-associated
VAR_050681 commonName VAR_050681
VAR_050681 disease not phenotype-associated
VAR_050682 commonName VAR_050682
VAR_050682 disease not phenotype-associated
VAR_050683 commonName VAR_050683
VAR_050683 disease not phenotype-associated
VAR_050684 commonName VAR_050684
VAR_050684 disease not phenotype-associated
VAR_050685 commonName VAR_050685
VAR_050685 disease not phenotype-associated
VAR_050687 commonName VAR_050687
VAR_050687 disease not phenotype-associated
VAR_050688 commonName VAR_050688
VAR_050688 disease not phenotype-associated
VAR_050689 commonName VAR_050689
VAR_050689 disease not phenotype-associated
VAR_050691 commonName VAR_050691
VAR_050691 disease not phenotype-associated
VAR_050692 commonName VAR_050692
VAR_050692 disease not phenotype-associated
VAR_050693 commonName VAR_050693
VAR_050693 disease not phenotype-associated
VAR_050694 commonName VAR_050694
VAR_050694 disease not phenotype-associated
VAR_050695 commonName VAR_050695
VAR_050695 disease not phenotype-associated
VAR_050696 commonName VAR_050696
VAR_050696 disease not phenotype-associated
VAR_050697 commonName VAR_050697
VAR_050697 disease not phenotype-associated
VAR_050698 commonName VAR_050698
VAR_050698 disease not phenotype-associated
VAR_050699 commonName VAR_050699
VAR_050699 disease not phenotype-associated
VAR_050700 commonName VAR_050700
VAR_050700 disease not phenotype-associated
VAR_050701 commonName VAR_050701
VAR_050701 disease not phenotype-associated
VAR_050703 commonName VAR_050703
VAR_050703 disease not phenotype-associated
VAR_050704 commonName VAR_050704
VAR_050704 disease not phenotype-associated
VAR_050705 commonName VAR_050705
VAR_050705 disease not phenotype-associated
VAR_050706 commonName VAR_050706
VAR_050706 disease not phenotype-associated
VAR_050707 commonName VAR_050707
VAR_050707 disease not phenotype-associated
VAR_050708 commonName VAR_050708
VAR_050708 disease not phenotype-associated
VAR_050709 commonName VAR_050709
VAR_050709 disease not phenotype-associated
VAR_050710 commonName VAR_050710
VAR_050710 disease not phenotype-associated
VAR_050711 commonName VAR_050711
VAR_050711 disease not phenotype-associated
VAR_050712 commonName VAR_050712
VAR_050712 disease not phenotype-associated
VAR_050713 commonName VAR_050713
VAR_050713 disease not phenotype-associated
VAR_050714 commonName VAR_050714
VAR_050714 disease not phenotype-associated
VAR_050715 commonName VAR_050715
VAR_050715 disease not phenotype-associated
VAR_050716 commonName VAR_050716
VAR_050716 disease not phenotype-associated
VAR_050717 commonName VAR_050717
VAR_050717 disease not phenotype-associated
VAR_050718 commonName VAR_050718
VAR_050718 disease not phenotype-associated
VAR_050719 commonName VAR_050719
VAR_050719 disease not phenotype-associated
VAR_050720 commonName VAR_050720
VAR_050720 disease not phenotype-associated
VAR_050721 commonName VAR_050721
VAR_050721 disease not phenotype-associated
VAR_050722 commonName VAR_050722
VAR_050722 disease not phenotype-associated
VAR_050723 commonName VAR_050723
VAR_050723 disease not phenotype-associated
VAR_050724 commonName VAR_050724
VAR_050724 disease not phenotype-associated
VAR_050725 commonName VAR_050725
VAR_050725 disease not phenotype-associated
VAR_050726 commonName VAR_050726
VAR_050726 disease not phenotype-associated
VAR_050727 commonName VAR_050727
VAR_050727 disease not phenotype-associated
VAR_050728 commonName VAR_050728
VAR_050728 disease not phenotype-associated
VAR_050729 commonName VAR_050729
VAR_050729 disease not phenotype-associated
VAR_050730 commonName VAR_050730
VAR_050730 disease not phenotype-associated
VAR_050731 commonName VAR_050731
VAR_050731 disease not phenotype-associated
VAR_050732 commonName VAR_050732
VAR_050732 disease not phenotype-associated
VAR_050733 commonName VAR_050733
VAR_050733 disease not phenotype-associated
VAR_050734 commonName VAR_050734
VAR_050734 disease not phenotype-associated
VAR_050735 commonName VAR_050735
VAR_050735 disease not phenotype-associated
VAR_050736 commonName VAR_050736
VAR_050736 disease not phenotype-associated
VAR_050737 commonName VAR_050737
VAR_050737 disease not phenotype-associated
VAR_050738 commonName VAR_050738
VAR_050738 disease not phenotype-associated
VAR_050739 commonName VAR_050739
VAR_050739 disease not phenotype-associated
VAR_050740 commonName VAR_050740
VAR_050740 disease not phenotype-associated
VAR_050741 commonName VAR_050741
VAR_050741 disease not phenotype-associated
VAR_050742 commonName VAR_050742
VAR_050742 disease not phenotype-associated
VAR_050744 commonName VAR_050744
VAR_050744 disease not phenotype-associated
VAR_050745 commonName VAR_050745
VAR_050745 disease not phenotype-associated
VAR_050746 commonName VAR_050746
VAR_050746 disease not phenotype-associated
VAR_050747 commonName VAR_050747
VAR_050747 disease not phenotype-associated
VAR_050748 commonName VAR_050748
VAR_050748 disease not phenotype-associated
VAR_050749 commonName VAR_050749
VAR_050749 disease not phenotype-associated
VAR_050750 commonName VAR_050750
VAR_050750 disease not phenotype-associated
VAR_050752 commonName VAR_050752
VAR_050752 disease not phenotype-associated
VAR_050753 commonName VAR_050753
VAR_050753 disease not phenotype-associated
VAR_050754 commonName VAR_050754
HbVar.684 commonName Hb C-Ziguinchor
VAR_050754 disease not phenotype-associated
VAR_050755 commonName VAR_050755
VAR_050755 disease not phenotype-associated
VAR_050756 commonName VAR_050756
VAR_050756 disease not phenotype-associated
VAR_050757 commonName VAR_050757
VAR_050757 disease not phenotype-associated
VAR_050758 commonName VAR_050758
VAR_050758 disease not phenotype-associated
VAR_050759 commonName VAR_050759
VAR_050759 disease not phenotype-associated
VAR_050760 commonName VAR_050760
VAR_050760 disease not phenotype-associated
VAR_050762 commonName VAR_050762
VAR_050762 disease not phenotype-associated
VAR_050763 commonName VAR_050763
VAR_050763 disease not phenotype-associated
VAR_050764 commonName VAR_050764
VAR_050764 disease not phenotype-associated
VAR_050765 commonName VAR_050765
VAR_050765 disease not phenotype-associated
VAR_050766 commonName VAR_050766
VAR_050766 disease not phenotype-associated
VAR_050767 commonName VAR_050767
VAR_050767 disease not phenotype-associated
VAR_050768 commonName VAR_050768
VAR_050768 disease not phenotype-associated
VAR_050769 commonName VAR_050769
VAR_050769 disease not phenotype-associated
VAR_050770 commonName VAR_050770
VAR_050770 disease not phenotype-associated
VAR_050772 commonName VAR_050772
VAR_050772 disease not phenotype-associated
VAR_050773 commonName VAR_050773
VAR_050773 disease not phenotype-associated
VAR_050774 commonName VAR_050774
VAR_050774 disease not phenotype-associated
VAR_050775 commonName VAR_050775
VAR_050775 disease not phenotype-associated
VAR_050776 commonName VAR_050776
VAR_050776 disease not phenotype-associated
VAR_050777 commonName VAR_050777
VAR_050777 disease not phenotype-associated
VAR_050778 commonName VAR_050778
VAR_050778 disease not phenotype-associated
VAR_050779 commonName VAR_050779
VAR_050779 disease not phenotype-associated
VAR_050780 commonName VAR_050780
VAR_050780 disease not phenotype-associated
VAR_050781 commonName VAR_050781
VAR_050781 disease not phenotype-associated
VAR_050790 commonName VAR_050790
VAR_050790 disease not phenotype-associated
VAR_050791 commonName VAR_050791
VAR_050791 disease not phenotype-associated
VAR_050792 commonName VAR_050792
VAR_050792 disease not phenotype-associated
VAR_050793 commonName VAR_050793
VAR_050793 disease not phenotype-associated
VAR_050794 commonName VAR_050794
VAR_050794 disease not phenotype-associated
VAR_050795 commonName VAR_050795
VAR_050795 disease not phenotype-associated
VAR_050796 commonName VAR_050796
VAR_050796 disease not phenotype-associated
VAR_050797 commonName VAR_050797
VAR_050797 disease not phenotype-associated
VAR_050798 commonName VAR_050798
VAR_050798 disease not phenotype-associated
VAR_050799 commonName VAR_050799
VAR_050799 disease not phenotype-associated
VAR_050800 commonName VAR_050800
VAR_050800 disease not phenotype-associated
VAR_050803 commonName VAR_050803
VAR_050803 disease not phenotype-associated
VAR_050804 commonName VAR_050804
VAR_050804 disease not phenotype-associated
VAR_050805 commonName VAR_050805
VAR_050805 disease not phenotype-associated
VAR_050806 commonName VAR_050806
VAR_050806 disease not phenotype-associated
VAR_050807 commonName VAR_050807
VAR_050807 disease not phenotype-associated
VAR_050808 commonName VAR_050808
VAR_050808 disease not phenotype-associated
VAR_050809 commonName VAR_050809
VAR_050809 disease not phenotype-associated
VAR_050810 commonName VAR_050810
VAR_050810 disease not phenotype-associated
VAR_050811 commonName VAR_050811
VAR_050811 disease not phenotype-associated
VAR_050812 commonName VAR_050812
VAR_050812 disease not phenotype-associated
VAR_050813 commonName VAR_050813
VAR_050813 disease not phenotype-associated
VAR_050814 commonName VAR_050814
VAR_050814 disease not phenotype-associated
VAR_050815 commonName VAR_050815
VAR_050815 disease not phenotype-associated
VAR_050816 commonName VAR_050816
VAR_050816 disease not phenotype-associated
VAR_050817 commonName VAR_050817
VAR_050817 disease not phenotype-associated
VAR_050819 commonName VAR_050819
VAR_050819 disease not phenotype-associated
VAR_050823 commonName VAR_050823
VAR_050823 disease not phenotype-associated
VAR_050824 commonName VAR_050824
VAR_050824 disease not phenotype-associated
VAR_050825 commonName VAR_050825
VAR_050825 disease not phenotype-associated
VAR_050826 commonName VAR_050826
VAR_050826 disease not phenotype-associated
VAR_050827 commonName VAR_050827
VAR_050827 disease not phenotype-associated
VAR_050828 commonName VAR_050828
VAR_050828 disease not phenotype-associated
VAR_050829 commonName VAR_050829
VAR_050829 disease not phenotype-associated
VAR_050830 commonName VAR_050830
VAR_050830 disease not phenotype-associated
VAR_050831 commonName VAR_050831
VAR_050831 disease not phenotype-associated
VAR_050832 commonName VAR_050832
VAR_050832 disease not phenotype-associated
VAR_050833 commonName VAR_050833
VAR_050833 disease not phenotype-associated
VAR_050834 commonName VAR_050834
VAR_050834 disease not phenotype-associated
VAR_050835 commonName VAR_050835
VAR_050835 disease not phenotype-associated
VAR_050836 commonName VAR_050836
VAR_050836 disease not phenotype-associated
VAR_050837 commonName VAR_050837
VAR_050837 disease not phenotype-associated
VAR_050838 commonName VAR_050838
VAR_050838 disease not phenotype-associated
VAR_050839 commonName VAR_050839
VAR_050839 disease not phenotype-associated
VAR_050840 commonName VAR_050840
VAR_050840 disease not phenotype-associated
VAR_050841 commonName VAR_050841
VAR_050841 disease not phenotype-associated
VAR_050842 commonName VAR_050842
VAR_050842 disease not phenotype-associated
VAR_050843 commonName VAR_050843
VAR_050843 disease not phenotype-associated
VAR_050844 commonName VAR_050844
VAR_050844 disease not phenotype-associated
VAR_050845 commonName VAR_050845
VAR_050845 disease not phenotype-associated
VAR_050846 commonName VAR_050846
VAR_050846 disease not phenotype-associated
VAR_050847 commonName VAR_050847
VAR_050847 disease not phenotype-associated
VAR_050848 commonName VAR_050848
VAR_050848 disease not phenotype-associated
VAR_050849 commonName VAR_050849
VAR_050849 disease not phenotype-associated
VAR_050850 commonName VAR_050850
VAR_050850 disease not phenotype-associated
VAR_050854 commonName VAR_050854
VAR_050854 disease not phenotype-associated
VAR_050855 commonName VAR_050855
VAR_050855 disease not phenotype-associated
VAR_050856 commonName VAR_050856
VAR_050856 disease not phenotype-associated
VAR_050857 commonName VAR_050857
VAR_050857 disease not phenotype-associated
VAR_050858 commonName VAR_050858
VAR_050858 disease not phenotype-associated
VAR_050859 commonName VAR_050859
VAR_050859 disease not phenotype-associated
VAR_050860 commonName VAR_050860
VAR_050860 disease not phenotype-associated
VAR_050861 commonName VAR_050861
VAR_050861 disease not phenotype-associated
VAR_050862 commonName VAR_050862
VAR_050862 disease not phenotype-associated
VAR_050863 commonName VAR_050863
VAR_050863 disease not phenotype-associated
VAR_050864 commonName VAR_050864
VAR_050864 disease not phenotype-associated
VAR_050865 commonName VAR_050865
VAR_050865 disease not phenotype-associated
VAR_050866 commonName VAR_050866
VAR_050866 disease not phenotype-associated
VAR_050867 commonName VAR_050867
VAR_050867 disease not phenotype-associated
VAR_050868 commonName VAR_050868
VAR_050868 disease not phenotype-associated
VAR_050869 commonName VAR_050869
VAR_050869 disease not phenotype-associated
VAR_050875 commonName VAR_050875
VAR_050875 disease not phenotype-associated
VAR_050876 commonName VAR_050876
VAR_050876 disease not phenotype-associated
VAR_050877 commonName VAR_050877
VAR_050877 disease not phenotype-associated
VAR_050878 commonName VAR_050878
VAR_050878 disease not phenotype-associated
VAR_050879 commonName VAR_050879
VAR_050879 disease not phenotype-associated
VAR_050880 commonName VAR_050880
VAR_050880 disease not phenotype-associated
VAR_050881 commonName VAR_050881
VAR_050881 disease not phenotype-associated
VAR_050882 commonName VAR_050882
VAR_050882 disease not phenotype-associated
VAR_050884 commonName VAR_050884
VAR_050884 disease not phenotype-associated
VAR_050885 commonName VAR_050885
VAR_050885 disease not phenotype-associated
VAR_050886 commonName VAR_050886
VAR_050886 disease not phenotype-associated
VAR_050887 commonName VAR_050887
VAR_050887 disease not phenotype-associated
VAR_050888 commonName VAR_050888
VAR_050888 disease not phenotype-associated
VAR_050889 commonName VAR_050889
VAR_050889 disease not phenotype-associated
VAR_050890 commonName VAR_050890
VAR_050890 disease not phenotype-associated
VAR_050891 commonName VAR_050891
VAR_050891 disease not phenotype-associated
VAR_050892 commonName VAR_050892
VAR_050892 disease not phenotype-associated
VAR_050893 commonName VAR_050893
VAR_050893 disease not phenotype-associated
VAR_050894 commonName VAR_050894
VAR_050894 disease not phenotype-associated
VAR_050895 commonName VAR_050895
VAR_050895 disease not phenotype-associated
VAR_050896 commonName VAR_050896
VAR_050896 disease not phenotype-associated
VAR_050897 commonName VAR_050897
VAR_050897 disease not phenotype-associated
VAR_050898 commonName VAR_050898
VAR_050898 disease not phenotype-associated
VAR_050899 commonName VAR_050899
VAR_050899 disease not phenotype-associated
VAR_050903 commonName VAR_050903
VAR_050903 disease not phenotype-associated
VAR_050904 commonName VAR_050904
VAR_050904 disease not phenotype-associated
VAR_050905 commonName VAR_050905
VAR_050905 disease not phenotype-associated
VAR_050906 commonName VAR_050906
VAR_050906 disease not phenotype-associated
VAR_050907 commonName VAR_050907
VAR_050907 disease not phenotype-associated
VAR_050908 commonName VAR_050908
VAR_050908 disease not phenotype-associated
VAR_050909 commonName VAR_050909
VAR_050909 disease not phenotype-associated
VAR_050910 commonName VAR_050910
VAR_050910 disease not phenotype-associated
VAR_050911 commonName VAR_050911
VAR_050911 disease not phenotype-associated
VAR_050912 commonName VAR_050912
VAR_050912 disease not phenotype-associated
VAR_050917 commonName VAR_050917
VAR_050917 disease not phenotype-associated
VAR_050918 commonName VAR_050918
VAR_050918 disease not phenotype-associated
VAR_050919 commonName VAR_050919
VAR_050919 disease not phenotype-associated
VAR_050920 commonName VAR_050920
VAR_050920 disease not phenotype-associated
VAR_050921 commonName VAR_050921
VAR_050921 disease not phenotype-associated
VAR_050922 commonName VAR_050922
VAR_050922 disease not phenotype-associated
VAR_050923 commonName VAR_050923
VAR_050923 disease not phenotype-associated
VAR_050924 commonName VAR_050924
VAR_050924 disease not phenotype-associated
VAR_050925 commonName VAR_050925
VAR_050925 disease not phenotype-associated
VAR_050926 commonName VAR_050926
VAR_050926 disease not phenotype-associated
VAR_050927 commonName VAR_050927
VAR_050927 disease not phenotype-associated
VAR_050928 commonName VAR_050928
VAR_050928 disease not phenotype-associated
VAR_050933 commonName VAR_050933
VAR_050933 disease not phenotype-associated
VAR_050934 commonName VAR_050934
VAR_050934 disease not phenotype-associated
VAR_050935 commonName VAR_050935
VAR_050935 disease not phenotype-associated
VAR_050936 commonName VAR_050936
VAR_050936 disease not phenotype-associated
VAR_050937 commonName VAR_050937
VAR_050937 disease not phenotype-associated
VAR_050938 commonName VAR_050938
VAR_050938 disease not phenotype-associated
VAR_050939 commonName VAR_050939
VAR_050939 disease not phenotype-associated
VAR_050940 commonName VAR_050940
VAR_050940 disease not phenotype-associated
VAR_050941 commonName VAR_050941
VAR_050941 disease not phenotype-associated
VAR_050942 commonName VAR_050942
VAR_050942 disease not phenotype-associated
VAR_050943 commonName VAR_050943
VAR_050943 disease not phenotype-associated
VAR_050944 commonName VAR_050944
VAR_050944 disease not phenotype-associated
VAR_050945 commonName VAR_050945
VAR_050945 disease not phenotype-associated
VAR_050946 commonName VAR_050946
VAR_050946 disease not phenotype-associated
VAR_050947 commonName VAR_050947
VAR_050947 disease not phenotype-associated
VAR_050948 commonName VAR_050948
VAR_050948 disease not phenotype-associated
VAR_050949 commonName VAR_050949
VAR_050949 disease not phenotype-associated
VAR_050950 commonName VAR_050950
VAR_050950 disease not phenotype-associated
VAR_050951 commonName VAR_050951
VAR_050951 disease not phenotype-associated
VAR_050952 commonName VAR_050952
VAR_050952 disease not phenotype-associated
VAR_050954 commonName VAR_050954
VAR_050954 disease not phenotype-associated
VAR_050955 commonName VAR_050955
VAR_050955 disease not phenotype-associated
VAR_050956 commonName VAR_050956
VAR_050956 disease not phenotype-associated
VAR_050957 commonName VAR_050957
VAR_050957 disease not phenotype-associated
VAR_050958 commonName VAR_050958
VAR_050958 disease not phenotype-associated
VAR_050960 commonName VAR_050960
VAR_050960 disease not phenotype-associated
VAR_050961 commonName VAR_050961
VAR_050961 disease not phenotype-associated
VAR_050962 commonName VAR_050962
VAR_050962 disease not phenotype-associated
VAR_050963 commonName VAR_050963
VAR_050963 disease not phenotype-associated
VAR_050964 commonName VAR_050964
VAR_050964 disease not phenotype-associated
VAR_050965 commonName VAR_050965
VAR_050965 disease not phenotype-associated
VAR_050966 commonName VAR_050966
VAR_050966 disease not phenotype-associated
VAR_050967 commonName VAR_050967
VAR_050967 disease not phenotype-associated
VAR_050968 commonName VAR_050968
VAR_050968 disease not phenotype-associated
VAR_050969 commonName VAR_050969
VAR_050969 disease not phenotype-associated
VAR_050970 commonName VAR_050970
VAR_050970 disease not phenotype-associated
VAR_050973 commonName VAR_050973
VAR_050973 disease not phenotype-associated
VAR_050974 commonName VAR_050974
VAR_050974 disease not phenotype-associated
VAR_050975 commonName VAR_050975
VAR_050975 disease not phenotype-associated
VAR_050976 commonName VAR_050976
VAR_050976 disease not phenotype-associated
VAR_050978 commonName VAR_050978
VAR_050978 disease not phenotype-associated
VAR_050979 commonName VAR_050979
VAR_050979 disease not phenotype-associated
VAR_050980 commonName VAR_050980
VAR_050980 disease not phenotype-associated
VAR_050982 commonName VAR_050982
VAR_050982 disease not phenotype-associated
VAR_050983 commonName VAR_050983
VAR_050983 disease not phenotype-associated
VAR_050984 commonName VAR_050984
VAR_050984 disease not phenotype-associated
VAR_050985 commonName VAR_050985
VAR_050985 disease not phenotype-associated
VAR_050986 commonName VAR_050986
VAR_050986 disease not phenotype-associated
VAR_050987 commonName VAR_050987
VAR_050987 disease not phenotype-associated
VAR_050988 commonName VAR_050988
VAR_050988 disease not phenotype-associated
VAR_050989 commonName VAR_050989
VAR_050989 disease not phenotype-associated
VAR_050990 commonName VAR_050990
VAR_050990 disease not phenotype-associated
VAR_050991 commonName VAR_050991
VAR_050991 disease not phenotype-associated
VAR_050992 commonName VAR_050992
VAR_050992 disease not phenotype-associated
VAR_050993 commonName VAR_050993
VAR_050993 disease not phenotype-associated
VAR_050994 commonName VAR_050994
VAR_050994 disease not phenotype-associated
VAR_050996 commonName VAR_050996
VAR_050996 disease not phenotype-associated
VAR_050997 commonName VAR_050997
VAR_050997 disease not phenotype-associated
VAR_050998 commonName VAR_050998
VAR_050998 disease not phenotype-associated
VAR_050999 commonName VAR_050999
VAR_050999 disease not phenotype-associated
VAR_051000 commonName VAR_051000
VAR_051000 disease not phenotype-associated
VAR_051001 commonName VAR_051001
VAR_051001 disease not phenotype-associated
VAR_051002 commonName VAR_051002
VAR_051002 disease not phenotype-associated
VAR_051005 commonName VAR_051005
VAR_051005 disease not phenotype-associated
VAR_051006 commonName VAR_051006
VAR_051006 disease not phenotype-associated
VAR_051007 commonName VAR_051007
VAR_051007 disease not phenotype-associated
VAR_051010 commonName VAR_051010
VAR_051010 disease not phenotype-associated
VAR_051011 commonName VAR_051011
VAR_051011 disease not phenotype-associated
VAR_051012 commonName VAR_051012
VAR_051012 disease not phenotype-associated
VAR_051014 commonName VAR_051014
VAR_051014 disease not phenotype-associated
VAR_051015 commonName VAR_051015
VAR_051015 disease not phenotype-associated
VAR_051016 commonName VAR_051016
VAR_051016 disease not phenotype-associated
VAR_051017 commonName VAR_051017
VAR_051017 disease not phenotype-associated
VAR_051018 commonName VAR_051018
VAR_051018 disease not phenotype-associated
VAR_051019 commonName VAR_051019
VAR_051019 disease not phenotype-associated
VAR_051020 commonName VAR_051020
VAR_051020 disease not phenotype-associated
VAR_051021 commonName VAR_051021
VAR_051021 disease not phenotype-associated
VAR_051022 commonName VAR_051022
VAR_051022 disease not phenotype-associated
VAR_051023 commonName VAR_051023
VAR_051023 disease not phenotype-associated
VAR_051024 commonName VAR_051024
VAR_051024 disease not phenotype-associated
VAR_051025 commonName VAR_051025
VAR_051025 disease not phenotype-associated
VAR_051026 commonName VAR_051026
VAR_051026 disease not phenotype-associated
VAR_051027 commonName VAR_051027
VAR_051027 disease not phenotype-associated
VAR_051028 commonName VAR_051028
VAR_051028 disease not phenotype-associated
VAR_051029 commonName VAR_051029
VAR_051029 disease not phenotype-associated
VAR_051030 commonName VAR_051030
VAR_051030 disease not phenotype-associated
VAR_051032 commonName VAR_051032
VAR_051032 disease not phenotype-associated
VAR_051033 commonName VAR_051033
VAR_051033 disease not phenotype-associated
VAR_051034 commonName VAR_051034
VAR_051034 disease not phenotype-associated
VAR_051035 commonName VAR_051035
VAR_051035 disease not phenotype-associated
VAR_051059 commonName VAR_051059
VAR_051059 disease not phenotype-associated
VAR_051060 commonName VAR_051060
VAR_051060 disease not phenotype-associated
VAR_051061 commonName VAR_051061
VAR_051061 disease not phenotype-associated
VAR_051062 commonName VAR_051062
VAR_051062 disease not phenotype-associated
VAR_051063 commonName VAR_051063
VAR_051063 disease not phenotype-associated
VAR_051064 commonName VAR_051064
VAR_051064 disease not phenotype-associated
VAR_051065 commonName VAR_051065
VAR_051065 disease not phenotype-associated
VAR_051066 commonName VAR_051066
VAR_051066 disease not phenotype-associated
VAR_051067 commonName VAR_051067
VAR_051067 disease not phenotype-associated
VAR_051068 commonName VAR_051068
VAR_051068 disease not phenotype-associated
VAR_051069 commonName VAR_051069
VAR_051069 disease not phenotype-associated
VAR_051070 commonName VAR_051070
VAR_051070 disease not phenotype-associated
VAR_051071 commonName VAR_051071
VAR_051071 disease not phenotype-associated
VAR_051072 commonName VAR_051072
VAR_051072 disease not phenotype-associated
VAR_051073 commonName VAR_051073
VAR_051073 disease not phenotype-associated
VAR_051074 commonName VAR_051074
VAR_051074 disease not phenotype-associated
VAR_051075 commonName VAR_051075
VAR_051075 disease not phenotype-associated
VAR_051076 commonName VAR_051076
VAR_051076 disease not phenotype-associated
VAR_051077 commonName VAR_051077
VAR_051077 disease not phenotype-associated
VAR_051078 commonName VAR_051078
VAR_051078 disease not phenotype-associated
VAR_051079 commonName VAR_051079
VAR_051079 disease not phenotype-associated
VAR_051080 commonName VAR_051080
VAR_051080 disease not phenotype-associated
VAR_051082 commonName VAR_051082
VAR_051082 disease not phenotype-associated
VAR_051083 commonName VAR_051083
VAR_051083 disease not phenotype-associated
VAR_051084 commonName VAR_051084
VAR_051084 disease not phenotype-associated
VAR_051085 commonName VAR_051085
VAR_051085 disease not phenotype-associated
VAR_051086 commonName VAR_051086
VAR_051086 disease not phenotype-associated
VAR_051088 commonName VAR_051088
VAR_051088 disease not phenotype-associated
VAR_051089 commonName VAR_051089
VAR_051089 disease not phenotype-associated
VAR_051090 commonName VAR_051090
VAR_051090 disease not phenotype-associated
VAR_051091 commonName VAR_051091
VAR_051091 disease not phenotype-associated
VAR_051092 commonName VAR_051092
VAR_051092 disease not phenotype-associated
VAR_051093 commonName VAR_051093
VAR_051093 disease not phenotype-associated
VAR_051094 commonName VAR_051094
VAR_051094 disease not phenotype-associated
VAR_051095 commonName VAR_051095
VAR_051095 disease not phenotype-associated
VAR_051096 commonName VAR_051096
VAR_051096 disease not phenotype-associated
VAR_051097 commonName VAR_051097
VAR_051097 disease not phenotype-associated
VAR_051098 commonName VAR_051098
VAR_051098 disease not phenotype-associated
VAR_051101 commonName VAR_051101
VAR_051101 disease not phenotype-associated
VAR_051102 commonName VAR_051102
VAR_051102 disease not phenotype-associated
VAR_051103 commonName VAR_051103
VAR_051103 disease not phenotype-associated
VAR_051104 commonName VAR_051104
VAR_051104 disease not phenotype-associated
VAR_051105 commonName VAR_051105
VAR_051105 disease not phenotype-associated
VAR_051106 commonName VAR_051106
VAR_051106 disease not phenotype-associated
VAR_051107 commonName VAR_051107
VAR_051107 disease not phenotype-associated
VAR_051108 commonName VAR_051108
VAR_051108 disease not phenotype-associated
VAR_051109 commonName VAR_051109
VAR_051109 disease not phenotype-associated
VAR_051110 commonName VAR_051110
VAR_051110 disease not phenotype-associated
VAR_051111 commonName VAR_051111
VAR_051111 disease not phenotype-associated
VAR_051112 commonName VAR_051112
VAR_051112 disease not phenotype-associated
VAR_051113 commonName VAR_051113
VAR_051113 disease not phenotype-associated
VAR_051114 commonName VAR_051114
VAR_051114 disease not phenotype-associated
VAR_051118 commonName VAR_051118
VAR_051118 disease not phenotype-associated
VAR_051119 commonName VAR_051119
VAR_051119 disease not phenotype-associated
VAR_051120 commonName VAR_051120
VAR_051120 disease not phenotype-associated
VAR_051121 commonName VAR_051121
VAR_051121 disease not phenotype-associated
VAR_051122 commonName VAR_051122
VAR_051122 disease not phenotype-associated
VAR_051123 commonName VAR_051123
VAR_051123 disease not phenotype-associated
VAR_051124 commonName VAR_051124
VAR_051124 disease not phenotype-associated
VAR_051125 commonName VAR_051125
VAR_051125 disease not phenotype-associated
VAR_051126 commonName VAR_051126
VAR_051126 disease not phenotype-associated
VAR_051127 commonName VAR_051127
VAR_051127 disease not phenotype-associated
VAR_051128 commonName VAR_051128
VAR_051128 disease not phenotype-associated
VAR_051129 commonName VAR_051129
VAR_051129 disease not phenotype-associated
VAR_051130 commonName VAR_051130
VAR_051130 disease not phenotype-associated
VAR_051131 commonName VAR_051131
VAR_051131 disease not phenotype-associated
VAR_051132 commonName VAR_051132
VAR_051132 disease not phenotype-associated
VAR_051133 commonName VAR_051133
VAR_051133 disease not phenotype-associated
VAR_051134 commonName VAR_051134
VAR_051134 disease not phenotype-associated
VAR_051135 commonName VAR_051135
VAR_051135 disease not phenotype-associated
VAR_051136 commonName VAR_051136
VAR_051136 disease not phenotype-associated
VAR_051137 commonName VAR_051137
VAR_051137 disease not phenotype-associated
VAR_051138 commonName VAR_051138
VAR_051138 disease not phenotype-associated
VAR_051139 commonName VAR_051139
VAR_051139 disease not phenotype-associated
VAR_051140 commonName VAR_051140
VAR_051140 disease not phenotype-associated
VAR_051141 commonName VAR_051141
VAR_051141 disease not phenotype-associated
VAR_051142 commonName VAR_051142
VAR_051142 disease not phenotype-associated
VAR_051143 commonName VAR_051143
VAR_051143 disease not phenotype-associated
VAR_051144 commonName VAR_051144
VAR_051144 disease not phenotype-associated
VAR_051145 commonName VAR_051145
VAR_051145 disease not phenotype-associated
VAR_051146 commonName VAR_051146
VAR_051146 disease not phenotype-associated
VAR_051147 commonName VAR_051147
VAR_051147 disease not phenotype-associated
VAR_051148 commonName VAR_051148
VAR_051148 disease not phenotype-associated
VAR_051149 commonName VAR_051149
VAR_051149 disease not phenotype-associated
VAR_051150 commonName VAR_051150
VAR_051150 disease not phenotype-associated
VAR_051151 commonName VAR_051151
VAR_051151 disease not phenotype-associated
VAR_051152 commonName VAR_051152
VAR_051152 disease not phenotype-associated
VAR_051153 commonName VAR_051153
VAR_051153 disease not phenotype-associated
VAR_051154 commonName VAR_051154
VAR_051154 disease not phenotype-associated
VAR_051155 commonName VAR_051155
VAR_051155 disease not phenotype-associated
VAR_051156 commonName VAR_051156
VAR_051156 disease not phenotype-associated
VAR_051157 commonName VAR_051157
VAR_051157 disease not phenotype-associated
VAR_051158 commonName VAR_051158
VAR_051158 disease not phenotype-associated
VAR_051159 commonName VAR_051159
VAR_051159 disease not phenotype-associated
VAR_051171 commonName VAR_051171
VAR_051171 disease not phenotype-associated
VAR_051172 commonName VAR_051172
VAR_051172 disease not phenotype-associated
VAR_051173 commonName VAR_051173
VAR_051173 disease not phenotype-associated
VAR_051174 commonName VAR_051174
VAR_051174 disease not phenotype-associated
VAR_051175 commonName VAR_051175
VAR_051175 disease not phenotype-associated
VAR_051176 commonName VAR_051176
VAR_051176 disease not phenotype-associated
VAR_051177 commonName VAR_051177
VAR_051177 disease not phenotype-associated
VAR_051178 commonName VAR_051178
VAR_051178 disease not phenotype-associated
VAR_051179 commonName VAR_051179
VAR_051179 disease not phenotype-associated
VAR_051180 commonName VAR_051180
VAR_051180 disease not phenotype-associated
VAR_051181 commonName VAR_051181
VAR_051181 disease not phenotype-associated
VAR_051182 commonName VAR_051182
VAR_051182 disease not phenotype-associated
VAR_051183 commonName VAR_051183
VAR_051183 disease not phenotype-associated
VAR_051185 commonName VAR_051185
VAR_051185 disease not phenotype-associated
VAR_051186 commonName VAR_051186
VAR_051186 disease not phenotype-associated
VAR_051188 commonName VAR_051188
VAR_051188 disease not phenotype-associated
VAR_051189 commonName VAR_051189
VAR_051189 disease not phenotype-associated
VAR_051190 commonName VAR_051190
VAR_051190 disease not phenotype-associated
VAR_051191 commonName VAR_051191
VAR_051191 disease not phenotype-associated
VAR_051192 commonName VAR_051192
VAR_051192 disease not phenotype-associated
VAR_051193 commonName VAR_051193
VAR_051193 disease not phenotype-associated
VAR_051194 commonName VAR_051194
VAR_051194 disease not phenotype-associated
VAR_051195 commonName VAR_051195
VAR_051195 disease not phenotype-associated
VAR_051196 commonName VAR_051196
VAR_051196 disease not phenotype-associated
VAR_051197 commonName VAR_051197
VAR_051197 disease not phenotype-associated
VAR_051198 commonName VAR_051198
VAR_051198 disease not phenotype-associated
VAR_051199 commonName VAR_051199
VAR_051199 disease not phenotype-associated
VAR_051200 commonName VAR_051200
VAR_051200 disease not phenotype-associated
VAR_051201 commonName VAR_051201
VAR_051201 disease not phenotype-associated
VAR_051202 commonName VAR_051202
VAR_051202 disease not phenotype-associated
VAR_051203 commonName VAR_051203
VAR_051203 disease not phenotype-associated
VAR_051204 commonName VAR_051204
VAR_051204 disease not phenotype-associated
VAR_051205 commonName VAR_051205
VAR_051205 disease not phenotype-associated
VAR_051206 commonName VAR_051206
VAR_051206 disease not phenotype-associated
VAR_051207 commonName VAR_051207
VAR_051207 disease not phenotype-associated
VAR_051208 commonName VAR_051208
VAR_051208 disease not phenotype-associated
VAR_051209 commonName VAR_051209
VAR_051209 disease not phenotype-associated
VAR_051210 commonName VAR_051210
VAR_051210 disease not phenotype-associated
VAR_051211 commonName VAR_051211
VAR_051211 disease not phenotype-associated
VAR_051215 commonName VAR_051215
VAR_051215 disease not phenotype-associated
VAR_051216 commonName VAR_051216
VAR_051216 disease not phenotype-associated
VAR_051217 commonName VAR_051217
VAR_051217 disease not phenotype-associated
VAR_051218 commonName VAR_051218
VAR_051218 disease not phenotype-associated
VAR_051219 commonName VAR_051219
VAR_051219 disease not phenotype-associated
VAR_051220 commonName VAR_051220
VAR_051220 disease not phenotype-associated
VAR_051221 commonName VAR_051221
VAR_051221 disease not phenotype-associated
VAR_051222 commonName VAR_051222
VAR_051222 disease not phenotype-associated
VAR_051223 commonName VAR_051223
VAR_051223 disease not phenotype-associated
VAR_051224 commonName VAR_051224
VAR_051224 disease not phenotype-associated
VAR_051225 commonName VAR_051225
VAR_051225 disease not phenotype-associated
VAR_051226 commonName VAR_051226
VAR_051226 disease not phenotype-associated
VAR_051227 commonName VAR_051227
VAR_051227 disease not phenotype-associated
VAR_051228 commonName VAR_051228
VAR_051228 disease not phenotype-associated
VAR_051229 commonName VAR_051229
VAR_051229 disease not phenotype-associated
VAR_051230 commonName VAR_051230
VAR_051230 disease not phenotype-associated
VAR_051231 commonName VAR_051231
VAR_051231 disease not phenotype-associated
VAR_051232 commonName VAR_051232
VAR_051232 disease not phenotype-associated
VAR_051233 commonName VAR_051233
VAR_051233 disease not phenotype-associated
VAR_051235 commonName VAR_051235
VAR_051235 disease not phenotype-associated
VAR_051236 commonName VAR_051236
VAR_051236 disease not phenotype-associated
VAR_051237 commonName VAR_051237
VAR_051237 disease not phenotype-associated
VAR_051238 commonName VAR_051238
VAR_051238 disease not phenotype-associated
VAR_051239 commonName VAR_051239
VAR_051239 disease not phenotype-associated
VAR_051240 commonName VAR_051240
VAR_051240 disease not phenotype-associated
VAR_051241 commonName VAR_051241
VAR_051241 disease not phenotype-associated
VAR_051242 commonName VAR_051242
VAR_051242 disease not phenotype-associated
VAR_051243 commonName VAR_051243
VAR_051243 disease not phenotype-associated
VAR_051246 commonName VAR_051246
VAR_051246 disease not phenotype-associated
VAR_051247 commonName VAR_051247
VAR_051247 disease not phenotype-associated
VAR_051249 commonName VAR_051249
VAR_051249 disease not phenotype-associated
VAR_051250 commonName VAR_051250
VAR_051250 disease not phenotype-associated
VAR_051251 commonName VAR_051251
VAR_051251 disease not phenotype-associated
VAR_051252 commonName VAR_051252
VAR_051252 disease not phenotype-associated
VAR_051253 commonName VAR_051253
VAR_051253 disease not phenotype-associated
VAR_051254 commonName VAR_051254
VAR_051254 disease not phenotype-associated
VAR_051255 commonName VAR_051255
VAR_051255 disease not phenotype-associated
VAR_051256 commonName VAR_051256
VAR_051256 disease not phenotype-associated
VAR_051257 commonName VAR_051257
VAR_051257 disease not phenotype-associated
VAR_051258 commonName VAR_051258
VAR_051258 disease not phenotype-associated
VAR_051259 commonName VAR_051259
VAR_051259 disease not phenotype-associated
VAR_051260 commonName VAR_051260
VAR_051260 disease not phenotype-associated
VAR_051261 commonName VAR_051261
VAR_051261 disease not phenotype-associated
VAR_051262 commonName VAR_051262
VAR_051262 disease not phenotype-associated
VAR_051263 commonName VAR_051263
VAR_051263 disease not phenotype-associated
VAR_051264 commonName VAR_051264
VAR_051264 disease not phenotype-associated
VAR_051265 commonName VAR_051265
VAR_051265 disease not phenotype-associated
VAR_051266 commonName VAR_051266
VAR_051266 disease not phenotype-associated
VAR_051267 commonName VAR_051267
VAR_051267 disease not phenotype-associated
VAR_051268 commonName VAR_051268
VAR_051268 disease not phenotype-associated
VAR_051269 commonName VAR_051269
VAR_051269 disease not phenotype-associated
VAR_051270 commonName VAR_051270
VAR_051270 disease not phenotype-associated
VAR_051272 commonName VAR_051272
VAR_051272 disease not phenotype-associated
VAR_051273 commonName VAR_051273
VAR_051273 disease not phenotype-associated
VAR_051274 commonName VAR_051274
VAR_051274 disease not phenotype-associated
VAR_051276 commonName VAR_051276
VAR_051276 disease not phenotype-associated
VAR_051277 commonName VAR_051277
VAR_051277 disease not phenotype-associated
VAR_051278 commonName VAR_051278
VAR_051278 disease not phenotype-associated
VAR_051279 commonName VAR_051279
VAR_051279 disease not phenotype-associated
VAR_051280 commonName VAR_051280
VAR_051280 disease not phenotype-associated
VAR_051281 commonName VAR_051281
VAR_051281 disease not phenotype-associated
VAR_051282 commonName VAR_051282
VAR_051282 disease not phenotype-associated
VAR_051283 commonName VAR_051283
VAR_051283 disease not phenotype-associated
VAR_051284 commonName VAR_051284
VAR_051284 disease not phenotype-associated
VAR_051285 commonName VAR_051285
VAR_051285 disease not phenotype-associated
VAR_051286 commonName VAR_051286
VAR_051286 disease not phenotype-associated
VAR_051287 commonName VAR_051287
VAR_051287 disease not phenotype-associated
VAR_051288 commonName VAR_051288
VAR_051288 disease not phenotype-associated
VAR_051289 commonName VAR_051289
VAR_051289 disease not phenotype-associated
VAR_051290 commonName VAR_051290
VAR_051290 disease not phenotype-associated
VAR_051291 commonName VAR_051291
VAR_051291 disease not phenotype-associated
VAR_051292 commonName VAR_051292
VAR_051292 disease not phenotype-associated
VAR_051293 commonName VAR_051293
VAR_051293 disease not phenotype-associated
VAR_051294 commonName VAR_051294
VAR_051294 disease not phenotype-associated
VAR_051295 commonName VAR_051295
VAR_051295 disease not phenotype-associated
VAR_051296 commonName VAR_051296
VAR_051296 disease not phenotype-associated
VAR_051297 commonName VAR_051297
VAR_051297 disease not phenotype-associated
VAR_051298 commonName VAR_051298
VAR_051298 disease not phenotype-associated
VAR_051299 commonName VAR_051299
VAR_051299 disease not phenotype-associated
VAR_051300 commonName VAR_051300
VAR_051300 disease not phenotype-associated
VAR_051301 commonName VAR_051301
VAR_051301 disease not phenotype-associated
VAR_051302 commonName VAR_051302
VAR_051302 disease not phenotype-associated
VAR_051304 commonName VAR_051304
VAR_051304 disease not phenotype-associated
VAR_051305 commonName VAR_051305
VAR_051305 disease not phenotype-associated
VAR_051306 commonName VAR_051306
VAR_051306 disease not phenotype-associated
VAR_051308 commonName VAR_051308
VAR_051308 disease not phenotype-associated
VAR_051309 commonName VAR_051309
VAR_051309 disease not phenotype-associated
VAR_051310 commonName VAR_051310
VAR_051310 disease not phenotype-associated
VAR_051311 commonName VAR_051311
VAR_051311 disease not phenotype-associated
VAR_051312 commonName VAR_051312
VAR_051312 disease not phenotype-associated
VAR_051313 commonName VAR_051313
VAR_051313 disease not phenotype-associated
VAR_051315 commonName VAR_051315
VAR_051315 disease not phenotype-associated
VAR_051316 commonName VAR_051316
VAR_051316 disease not phenotype-associated
VAR_051317 commonName VAR_051317
VAR_051317 disease not phenotype-associated
VAR_051318 commonName VAR_051318
VAR_051318 disease not phenotype-associated
VAR_051319 commonName VAR_051319
VAR_051319 disease not phenotype-associated
VAR_051320 commonName VAR_051320
VAR_051320 disease not phenotype-associated
VAR_051321 commonName VAR_051321
VAR_051321 disease not phenotype-associated
VAR_051322 commonName VAR_051322
VAR_051322 disease not phenotype-associated
VAR_051323 commonName VAR_051323
VAR_051323 disease not phenotype-associated
VAR_051324 commonName VAR_051324
VAR_051324 disease not phenotype-associated
VAR_051325 commonName VAR_051325
VAR_051325 disease not phenotype-associated
VAR_051326 commonName VAR_051326
VAR_051326 disease not phenotype-associated
VAR_051327 commonName VAR_051327
VAR_051327 disease not phenotype-associated
VAR_051328 commonName VAR_051328
VAR_051328 disease not phenotype-associated
VAR_051329 commonName VAR_051329
VAR_051329 disease not phenotype-associated
VAR_051330 commonName VAR_051330
VAR_051330 disease not phenotype-associated
VAR_051331 commonName VAR_051331
VAR_051331 disease not phenotype-associated
VAR_051332 commonName VAR_051332
VAR_051332 disease not phenotype-associated
VAR_051333 commonName VAR_051333
VAR_051333 disease not phenotype-associated
VAR_051334 commonName VAR_051334
VAR_051334 disease not phenotype-associated
VAR_051335 commonName VAR_051335
VAR_051335 disease not phenotype-associated
VAR_051336 commonName VAR_051336
VAR_051336 disease not phenotype-associated
VAR_051337 commonName VAR_051337
VAR_051337 disease not phenotype-associated
VAR_051339 commonName VAR_051339
VAR_051339 disease not phenotype-associated
VAR_051341 commonName VAR_051341
VAR_051341 disease not phenotype-associated
VAR_051342 commonName VAR_051342
VAR_051342 disease not phenotype-associated
VAR_051343 commonName VAR_051343
VAR_051343 disease not phenotype-associated
VAR_051344 commonName VAR_051344
VAR_051344 disease not phenotype-associated
VAR_051345 commonName VAR_051345
VAR_051345 disease not phenotype-associated
VAR_051346 commonName VAR_051346
VAR_051346 disease not phenotype-associated
VAR_051347 commonName VAR_051347
VAR_051347 disease not phenotype-associated
VAR_051348 commonName VAR_051348
VAR_051348 disease not phenotype-associated
VAR_051349 commonName VAR_051349
VAR_051349 disease not phenotype-associated
VAR_051350 commonName VAR_051350
VAR_051350 disease not phenotype-associated
VAR_051351 commonName VAR_051351
VAR_051351 disease not phenotype-associated
VAR_051352 commonName VAR_051352
VAR_051352 disease not phenotype-associated
VAR_051353 commonName VAR_051353
VAR_051353 disease not phenotype-associated
VAR_051354 commonName VAR_051354
VAR_051354 disease not phenotype-associated
VAR_051355 commonName VAR_051355
VAR_051355 disease not phenotype-associated
VAR_051356 commonName VAR_051356
VAR_051356 disease not phenotype-associated
VAR_051357 commonName VAR_051357
VAR_051357 disease not phenotype-associated
VAR_051358 commonName VAR_051358
VAR_051358 disease not phenotype-associated
VAR_051359 commonName VAR_051359
VAR_051359 disease not phenotype-associated
VAR_051360 commonName VAR_051360
VAR_051360 disease not phenotype-associated
VAR_051361 commonName VAR_051361
VAR_051361 disease not phenotype-associated
VAR_051362 commonName VAR_051362
VAR_051362 disease not phenotype-associated
VAR_051363 commonName VAR_051363
VAR_051363 disease not phenotype-associated
VAR_051364 commonName VAR_051364
VAR_051364 disease not phenotype-associated
VAR_051365 commonName VAR_051365
VAR_051365 disease not phenotype-associated
VAR_051367 commonName VAR_051367
VAR_051367 disease not phenotype-associated
VAR_051369 commonName VAR_051369
VAR_051369 disease not phenotype-associated
VAR_051370 commonName VAR_051370
VAR_051370 disease not phenotype-associated
VAR_051371 commonName VAR_051371
VAR_051371 disease not phenotype-associated
VAR_051372 commonName VAR_051372
VAR_051372 disease not phenotype-associated
VAR_051373 commonName VAR_051373
VAR_051373 disease not phenotype-associated
VAR_051375 commonName VAR_051375
VAR_051375 disease not phenotype-associated
VAR_051376 commonName VAR_051376
VAR_051376 disease not phenotype-associated
VAR_051377 commonName VAR_051377
VAR_051377 disease not phenotype-associated
VAR_051378 commonName VAR_051378
VAR_051378 disease not phenotype-associated
VAR_051379 commonName VAR_051379
VAR_051379 disease not phenotype-associated
VAR_051380 commonName VAR_051380
VAR_051380 disease not phenotype-associated
VAR_051381 commonName VAR_051381
VAR_051381 disease not phenotype-associated
VAR_051382 commonName VAR_051382
VAR_051382 disease not phenotype-associated
VAR_051383 commonName VAR_051383
VAR_051383 disease not phenotype-associated
VAR_051384 commonName VAR_051384
VAR_051384 disease not phenotype-associated
VAR_051385 commonName VAR_051385
VAR_051385 disease not phenotype-associated
VAR_051386 commonName VAR_051386
VAR_051386 disease not phenotype-associated
VAR_051388 commonName VAR_051388
VAR_051388 disease not phenotype-associated
VAR_051389 commonName VAR_051389
VAR_051389 disease not phenotype-associated
VAR_051390 commonName VAR_051390
VAR_051390 disease not phenotype-associated
VAR_051391 commonName VAR_051391
VAR_051391 disease not phenotype-associated
VAR_051392 commonName VAR_051392
VAR_051392 disease not phenotype-associated
VAR_051393 commonName VAR_051393
VAR_051393 disease not phenotype-associated
VAR_051394 commonName VAR_051394
VAR_051394 disease not phenotype-associated
VAR_051395 commonName VAR_051395
VAR_051395 disease not phenotype-associated
VAR_051396 commonName VAR_051396
VAR_051396 disease not phenotype-associated
VAR_051397 commonName VAR_051397
VAR_051397 disease not phenotype-associated
VAR_051398 commonName VAR_051398
VAR_051398 disease not phenotype-associated
VAR_051399 commonName VAR_051399
VAR_051399 disease not phenotype-associated
VAR_051400 commonName VAR_051400
VAR_051400 disease not phenotype-associated
VAR_051401 commonName VAR_051401
VAR_051401 disease not phenotype-associated
VAR_051402 commonName VAR_051402
VAR_051402 disease not phenotype-associated
VAR_051403 commonName VAR_051403
VAR_051403 disease not phenotype-associated
VAR_051404 commonName VAR_051404
VAR_051404 disease not phenotype-associated
VAR_051405 commonName VAR_051405
VAR_051405 disease not phenotype-associated
VAR_051406 commonName VAR_051406
VAR_051406 disease not phenotype-associated
VAR_051407 commonName VAR_051407
VAR_051407 disease not phenotype-associated
VAR_051408 commonName VAR_051408
VAR_051408 disease not phenotype-associated
VAR_051409 commonName VAR_051409
VAR_051409 disease not phenotype-associated
VAR_051410 commonName VAR_051410
VAR_051410 disease not phenotype-associated
VAR_051411 commonName VAR_051411
VAR_051411 disease not phenotype-associated
VAR_051412 commonName VAR_051412
VAR_051412 disease not phenotype-associated
VAR_051415 commonName VAR_051415
VAR_051415 disease not phenotype-associated
VAR_051416 commonName VAR_051416
VAR_051416 disease not phenotype-associated
VAR_051417 commonName VAR_051417
VAR_051417 disease not phenotype-associated
VAR_051418 commonName VAR_051418
VAR_051418 disease not phenotype-associated
VAR_051419 commonName VAR_051419
VAR_051419 disease not phenotype-associated
VAR_051420 commonName VAR_051420
VAR_051420 disease not phenotype-associated
VAR_051421 commonName VAR_051421
VAR_051421 disease not phenotype-associated
VAR_051422 commonName VAR_051422
VAR_051422 disease not phenotype-associated
VAR_051423 commonName VAR_051423
VAR_051423 disease not phenotype-associated
VAR_051424 commonName VAR_051424
VAR_051424 disease not phenotype-associated
VAR_051425 commonName VAR_051425
VAR_051425 disease not phenotype-associated
VAR_051426 commonName VAR_051426
VAR_051426 disease not phenotype-associated
VAR_051427 commonName VAR_051427
VAR_051427 disease not phenotype-associated
VAR_051428 commonName VAR_051428
VAR_051428 disease not phenotype-associated
VAR_051429 commonName VAR_051429
VAR_051429 disease not phenotype-associated
VAR_051430 commonName VAR_051430
VAR_051430 disease not phenotype-associated
VAR_051431 commonName VAR_051431
VAR_051431 disease not phenotype-associated
VAR_051432 commonName VAR_051432
VAR_051432 disease not phenotype-associated
VAR_051433 commonName VAR_051433
VAR_051433 disease not phenotype-associated
VAR_051434 commonName VAR_051434
VAR_051434 disease not phenotype-associated
VAR_051435 commonName VAR_051435
VAR_051435 disease not phenotype-associated
VAR_051436 commonName VAR_051436
VAR_051436 disease not phenotype-associated
VAR_051437 commonName VAR_051437
VAR_051437 disease not phenotype-associated
VAR_051438 commonName VAR_051438
VAR_051438 disease not phenotype-associated
VAR_051439 commonName VAR_051439
VAR_051439 disease not phenotype-associated
VAR_051440 commonName VAR_051440
VAR_051440 disease not phenotype-associated
VAR_051441 commonName VAR_051441
VAR_051441 disease not phenotype-associated
VAR_051442 commonName VAR_051442
VAR_051442 disease not phenotype-associated
VAR_051443 commonName VAR_051443
VAR_051443 disease not phenotype-associated
VAR_051444 commonName VAR_051444
VAR_051444 disease not phenotype-associated
VAR_051445 commonName VAR_051445
VAR_051445 disease not phenotype-associated
VAR_051446 commonName VAR_051446
VAR_051446 disease not phenotype-associated
VAR_051447 commonName VAR_051447
VAR_051447 disease not phenotype-associated
VAR_051448 commonName VAR_051448
VAR_051448 disease not phenotype-associated
VAR_051449 commonName VAR_051449
VAR_051449 disease not phenotype-associated
VAR_051450 commonName VAR_051450
VAR_051450 disease not phenotype-associated
VAR_051451 commonName VAR_051451
VAR_051451 disease not phenotype-associated
VAR_051452 commonName VAR_051452
VAR_051452 disease not phenotype-associated
VAR_051453 commonName VAR_051453
VAR_051453 disease not phenotype-associated
VAR_051454 commonName VAR_051454
VAR_051454 disease not phenotype-associated
VAR_051455 commonName VAR_051455
VAR_051455 disease not phenotype-associated
VAR_051456 commonName VAR_051456
VAR_051456 disease not phenotype-associated
VAR_051457 commonName VAR_051457
VAR_051457 disease not phenotype-associated
VAR_051458 commonName VAR_051458
VAR_051458 disease not phenotype-associated
VAR_051459 commonName VAR_051459
VAR_051459 disease not phenotype-associated
VAR_051460 commonName VAR_051460
VAR_051460 disease not phenotype-associated
VAR_051461 commonName VAR_051461
VAR_051461 disease not phenotype-associated
VAR_051462 commonName VAR_051462
VAR_051462 disease not phenotype-associated
VAR_051463 commonName VAR_051463
VAR_051463 disease not phenotype-associated
VAR_051464 commonName VAR_051464
VAR_051464 disease not phenotype-associated
VAR_051465 commonName VAR_051465
VAR_051465 disease not phenotype-associated
VAR_051466 commonName VAR_051466
VAR_051466 disease not phenotype-associated
VAR_051469 commonName VAR_051469
VAR_051469 disease not phenotype-associated
VAR_051470 commonName VAR_051470
VAR_051470 disease not phenotype-associated
VAR_051471 commonName VAR_051471
VAR_051471 disease not phenotype-associated
VAR_051472 commonName VAR_051472
VAR_051472 disease not phenotype-associated
VAR_051473 commonName VAR_051473
VAR_051473 disease not phenotype-associated
VAR_051474 commonName VAR_051474
VAR_051474 disease not phenotype-associated
VAR_051475 commonName VAR_051475
VAR_051475 disease not phenotype-associated
VAR_051476 commonName VAR_051476
VAR_051476 disease not phenotype-associated
VAR_051477 commonName VAR_051477
VAR_051477 disease not phenotype-associated
VAR_051478 commonName VAR_051478
VAR_051478 disease not phenotype-associated
VAR_051479 commonName VAR_051479
VAR_051479 disease not phenotype-associated
VAR_051480 commonName VAR_051480
VAR_051480 disease not phenotype-associated
VAR_051482 commonName VAR_051482
VAR_051482 disease not phenotype-associated
VAR_051483 commonName VAR_051483
VAR_051483 disease not phenotype-associated
VAR_051484 commonName VAR_051484
VAR_051484 disease not phenotype-associated
VAR_051485 commonName VAR_051485
VAR_051485 disease not phenotype-associated
VAR_051486 commonName VAR_051486
VAR_051486 disease not phenotype-associated
VAR_051487 commonName VAR_051487
VAR_051487 disease not phenotype-associated
VAR_051489 commonName VAR_051489
VAR_051489 disease not phenotype-associated
VAR_051490 commonName VAR_051490
VAR_051490 disease not phenotype-associated
VAR_051491 commonName VAR_051491
VAR_051491 disease not phenotype-associated
VAR_051493 commonName VAR_051493
VAR_051493 disease not phenotype-associated
VAR_051494 commonName VAR_051494
VAR_051494 disease not phenotype-associated
VAR_051495 commonName VAR_051495
VAR_051495 disease not phenotype-associated
VAR_051496 commonName VAR_051496
VAR_051496 disease not phenotype-associated
VAR_051497 commonName VAR_051497
VAR_051497 disease not phenotype-associated
VAR_051499 commonName VAR_051499
VAR_051499 disease not phenotype-associated
VAR_051500 commonName VAR_051500
VAR_051500 disease not phenotype-associated
VAR_051501 commonName VAR_051501
VAR_051501 disease not phenotype-associated
VAR_051502 commonName VAR_051502
VAR_051502 disease not phenotype-associated
VAR_051503 commonName VAR_051503
VAR_051503 disease not phenotype-associated
VAR_051504 commonName VAR_051504
VAR_051504 disease not phenotype-associated
VAR_051505 commonName VAR_051505
VAR_051505 disease not phenotype-associated
VAR_051506 commonName VAR_051506
VAR_051506 disease not phenotype-associated
VAR_051507 commonName VAR_051507
VAR_051507 disease not phenotype-associated
VAR_051508 commonName VAR_051508
VAR_051508 disease not phenotype-associated
VAR_051509 commonName VAR_051509
VAR_051509 disease not phenotype-associated
VAR_051510 commonName VAR_051510
VAR_051510 disease not phenotype-associated
VAR_051511 commonName VAR_051511
VAR_051511 disease not phenotype-associated
VAR_051512 commonName VAR_051512
VAR_051512 disease not phenotype-associated
VAR_051513 commonName VAR_051513
VAR_051513 disease not phenotype-associated
VAR_051514 commonName VAR_051514
VAR_051514 disease not phenotype-associated
VAR_051516 commonName VAR_051516
VAR_051516 disease not phenotype-associated
VAR_051517 commonName VAR_051517
VAR_051517 disease not phenotype-associated
VAR_051518 commonName VAR_051518
VAR_051518 disease not phenotype-associated
VAR_051519 commonName VAR_051519
VAR_051519 disease not phenotype-associated
VAR_051520 commonName VAR_051520
VAR_051520 disease not phenotype-associated
VAR_051522 commonName VAR_051522
VAR_051522 disease not phenotype-associated
VAR_051523 commonName VAR_051523
VAR_051523 disease not phenotype-associated
VAR_051524 commonName VAR_051524
VAR_051524 disease not phenotype-associated
VAR_051525 commonName VAR_051525
VAR_051525 disease not phenotype-associated
VAR_051528 commonName VAR_051528
VAR_051528 disease not phenotype-associated
VAR_051529 commonName VAR_051529
VAR_051529 disease not phenotype-associated
VAR_051530 commonName VAR_051530
VAR_051530 disease not phenotype-associated
VAR_051531 commonName VAR_051531
VAR_051531 disease not phenotype-associated
VAR_051532 commonName VAR_051532
VAR_051532 disease not phenotype-associated
VAR_051533 commonName VAR_051533
VAR_051533 disease not phenotype-associated
VAR_051534 commonName VAR_051534
VAR_051534 disease not phenotype-associated
VAR_051535 commonName VAR_051535
VAR_051535 disease not phenotype-associated
VAR_051536 commonName VAR_051536
VAR_051536 disease not phenotype-associated
VAR_051540 commonName VAR_051540
VAR_051540 disease not phenotype-associated
VAR_051542 commonName VAR_051542
VAR_051542 disease not phenotype-associated
VAR_051544 commonName VAR_051544
VAR_051544 disease not phenotype-associated
VAR_051547 commonName VAR_051547
VAR_051547 disease not phenotype-associated
VAR_051549 commonName VAR_051549
VAR_051549 disease not phenotype-associated
VAR_051550 commonName VAR_051550
VAR_051550 disease not phenotype-associated
VAR_051554 commonName VAR_051554
VAR_051554 disease not phenotype-associated
VAR_051555 commonName VAR_051555
VAR_051555 disease not phenotype-associated
VAR_051556 commonName VAR_051556
VAR_051556 disease not phenotype-associated
VAR_051557 commonName VAR_051557
VAR_051557 disease not phenotype-associated
VAR_051559 commonName VAR_051559
VAR_051559 disease not phenotype-associated
VAR_051560 commonName VAR_051560
VAR_051560 disease not phenotype-associated
VAR_051561 commonName VAR_051561
VAR_051561 disease not phenotype-associated
VAR_051562 commonName VAR_051562
VAR_051562 disease not phenotype-associated
VAR_051563 commonName VAR_051563
VAR_051563 disease not phenotype-associated
VAR_051564 commonName VAR_051564
VAR_051564 disease not phenotype-associated
VAR_051565 commonName VAR_051565
VAR_051565 disease not phenotype-associated
VAR_051567 commonName VAR_051567
VAR_051567 disease not phenotype-associated
VAR_051568 commonName VAR_051568
VAR_051568 disease not phenotype-associated
VAR_051569 commonName VAR_051569
VAR_051569 disease not phenotype-associated
VAR_051570 commonName VAR_051570
VAR_051570 disease not phenotype-associated
VAR_051571 commonName VAR_051571
VAR_051571 disease not phenotype-associated
VAR_051574 commonName VAR_051574
VAR_051574 disease not phenotype-associated
VAR_051575 commonName VAR_051575
VAR_051575 disease not phenotype-associated
VAR_051576 commonName VAR_051576
VAR_051576 disease not phenotype-associated
VAR_051577 commonName VAR_051577
VAR_051577 disease not phenotype-associated
VAR_051578 commonName VAR_051578
VAR_051578 disease not phenotype-associated
VAR_051579 commonName VAR_051579
VAR_051579 disease not phenotype-associated
VAR_051580 commonName VAR_051580
VAR_051580 disease not phenotype-associated
VAR_051581 commonName VAR_051581
VAR_051581 disease not phenotype-associated
VAR_051582 commonName VAR_051582
VAR_051582 disease not phenotype-associated
VAR_051583 commonName VAR_051583
VAR_051583 disease not phenotype-associated
VAR_051584 commonName VAR_051584
VAR_051584 disease not phenotype-associated
VAR_051586 commonName VAR_051586
VAR_051586 disease not phenotype-associated
VAR_051587 commonName VAR_051587
VAR_051587 disease not phenotype-associated
VAR_051588 commonName VAR_051588
VAR_051588 disease not phenotype-associated
VAR_051589 commonName VAR_051589
VAR_051589 disease not phenotype-associated
VAR_051590 commonName VAR_051590
VAR_051590 disease not phenotype-associated
VAR_051591 commonName VAR_051591
VAR_051591 disease not phenotype-associated
VAR_051592 commonName VAR_051592
VAR_051592 disease not phenotype-associated
VAR_051593 commonName VAR_051593
VAR_051593 disease not phenotype-associated
VAR_051594 commonName VAR_051594
VAR_051594 disease not phenotype-associated
VAR_051595 commonName VAR_051595
VAR_051595 disease not phenotype-associated
VAR_051596 commonName VAR_051596
VAR_051596 disease not phenotype-associated
VAR_051597 commonName VAR_051597
VAR_051597 disease not phenotype-associated
VAR_051599 commonName VAR_051599
VAR_051599 disease not phenotype-associated
VAR_051601 commonName VAR_051601
VAR_051601 disease not phenotype-associated
VAR_051602 commonName VAR_051602
VAR_051602 disease not phenotype-associated
VAR_051603 commonName VAR_051603
VAR_051603 disease not phenotype-associated
VAR_051606 commonName VAR_051606
VAR_051606 disease not phenotype-associated
VAR_051607 commonName VAR_051607
VAR_051607 disease not phenotype-associated
VAR_051608 commonName VAR_051608
VAR_051608 disease not phenotype-associated
VAR_051609 commonName VAR_051609
VAR_051609 disease not phenotype-associated
VAR_051610 commonName VAR_051610
VAR_051610 disease not phenotype-associated
VAR_051611 commonName VAR_051611
VAR_051611 disease not phenotype-associated
VAR_051612 commonName VAR_051612
VAR_051612 disease not phenotype-associated
VAR_051613 commonName VAR_051613
VAR_051613 disease not phenotype-associated
VAR_051614 commonName VAR_051614
VAR_051614 disease not phenotype-associated
VAR_051615 commonName VAR_051615
VAR_051615 disease not phenotype-associated
VAR_051616 commonName VAR_051616
VAR_051616 disease not phenotype-associated
VAR_051617 commonName VAR_051617
VAR_051617 disease not phenotype-associated
VAR_051618 commonName VAR_051618
VAR_051618 disease not phenotype-associated
VAR_051619 commonName VAR_051619
VAR_051619 disease not phenotype-associated
VAR_051621 commonName VAR_051621
VAR_051621 disease not phenotype-associated
VAR_051622 commonName VAR_051622
VAR_051622 disease not phenotype-associated
VAR_051623 commonName VAR_051623
VAR_051623 disease not phenotype-associated
VAR_051624 commonName VAR_051624
VAR_051624 disease not phenotype-associated
VAR_051625 commonName VAR_051625
VAR_051625 disease not phenotype-associated
VAR_051626 commonName VAR_051626
VAR_051626 disease not phenotype-associated
VAR_051627 commonName VAR_051627
VAR_051627 disease not phenotype-associated
VAR_051628 commonName VAR_051628
VAR_051628 disease not phenotype-associated
VAR_051629 commonName VAR_051629
VAR_051629 disease not phenotype-associated
VAR_051630 commonName VAR_051630
VAR_051630 disease not phenotype-associated
VAR_051631 commonName VAR_051631
VAR_051631 disease not phenotype-associated
VAR_051632 commonName VAR_051632
VAR_051632 disease not phenotype-associated
VAR_051633 commonName VAR_051633
VAR_051633 disease not phenotype-associated
VAR_051634 commonName VAR_051634
VAR_051634 disease not phenotype-associated
VAR_051635 commonName VAR_051635
VAR_051635 disease not phenotype-associated
VAR_051636 commonName VAR_051636
VAR_051636 disease not phenotype-associated
VAR_051637 commonName VAR_051637
VAR_051637 disease not phenotype-associated
VAR_051638 commonName VAR_051638
VAR_051638 disease not phenotype-associated
VAR_051639 commonName VAR_051639
VAR_051639 disease not phenotype-associated
VAR_051640 commonName VAR_051640
VAR_051640 disease not phenotype-associated
VAR_051641 commonName VAR_051641
VAR_051641 disease not phenotype-associated
VAR_051643 commonName VAR_051643
VAR_051643 disease not phenotype-associated
VAR_051644 commonName VAR_051644
VAR_051644 disease not phenotype-associated
VAR_051645 commonName VAR_051645
VAR_051645 disease not phenotype-associated
VAR_051646 commonName VAR_051646
VAR_051646 disease not phenotype-associated
VAR_051647 commonName VAR_051647
VAR_051647 disease not phenotype-associated
VAR_051648 commonName VAR_051648
VAR_051648 disease not phenotype-associated
VAR_051650 commonName VAR_051650
VAR_051650 disease not phenotype-associated
VAR_051651 commonName VAR_051651
VAR_051651 disease not phenotype-associated
VAR_051652 commonName VAR_051652
VAR_051652 disease not phenotype-associated
VAR_051653 commonName VAR_051653
VAR_051653 disease not phenotype-associated
VAR_051654 commonName VAR_051654
VAR_051654 disease not phenotype-associated
VAR_051655 commonName VAR_051655
VAR_051655 disease not phenotype-associated
VAR_051656 commonName VAR_051656
VAR_051656 disease not phenotype-associated
VAR_051657 commonName VAR_051657
VAR_051657 disease not phenotype-associated
VAR_051658 commonName VAR_051658
VAR_051658 disease not phenotype-associated
VAR_051659 commonName VAR_051659
VAR_051659 disease not phenotype-associated
VAR_051660 commonName VAR_051660
VAR_051660 disease not phenotype-associated
VAR_051661 commonName VAR_051661
VAR_051661 disease not phenotype-associated
VAR_051662 commonName VAR_051662
VAR_051662 disease not phenotype-associated
VAR_051663 commonName VAR_051663
VAR_051663 disease not phenotype-associated
VAR_051664 commonName VAR_051664
VAR_051664 disease not phenotype-associated
VAR_051665 commonName VAR_051665
VAR_051665 disease not phenotype-associated
VAR_051666 commonName VAR_051666
VAR_051666 disease not phenotype-associated
VAR_051667 commonName VAR_051667
VAR_051667 disease not phenotype-associated
VAR_051668 commonName VAR_051668
VAR_051668 disease not phenotype-associated
VAR_051669 commonName VAR_051669
VAR_051669 disease not phenotype-associated
VAR_051670 commonName VAR_051670
VAR_051670 disease not phenotype-associated
VAR_051671 commonName VAR_051671
VAR_051671 disease not phenotype-associated
VAR_051672 commonName VAR_051672
VAR_051672 disease not phenotype-associated
VAR_051673 commonName VAR_051673
VAR_051673 disease not phenotype-associated
VAR_051674 commonName VAR_051674
VAR_051674 disease not phenotype-associated
VAR_051675 commonName VAR_051675
VAR_051675 disease not phenotype-associated
VAR_051676 commonName VAR_051676
VAR_051676 disease not phenotype-associated
VAR_051677 commonName VAR_051677
VAR_051677 disease not phenotype-associated
VAR_051678 commonName VAR_051678
VAR_051678 disease not phenotype-associated
VAR_051679 commonName VAR_051679
VAR_051679 disease not phenotype-associated
VAR_051681 commonName VAR_051681
VAR_051681 disease not phenotype-associated
VAR_051682 commonName VAR_051682
VAR_051682 disease not phenotype-associated
VAR_051683 commonName VAR_051683
VAR_051683 disease not phenotype-associated
VAR_051684 commonName VAR_051684
VAR_051684 disease not phenotype-associated
VAR_051685 commonName VAR_051685
VAR_051685 disease not phenotype-associated
VAR_051687 commonName VAR_051687
VAR_051687 disease not phenotype-associated
VAR_051688 commonName VAR_051688
VAR_051688 disease not phenotype-associated
VAR_051689 commonName VAR_051689
VAR_051689 disease not phenotype-associated
VAR_051690 commonName VAR_051690
VAR_051690 disease not phenotype-associated
VAR_051691 commonName VAR_051691
VAR_051691 disease not phenotype-associated
VAR_051692 commonName VAR_051692
VAR_051692 disease not phenotype-associated
VAR_051693 commonName VAR_051693
VAR_051693 disease not phenotype-associated
VAR_051694 commonName VAR_051694
VAR_051694 disease not phenotype-associated
VAR_051695 commonName VAR_051695
VAR_051695 disease not phenotype-associated
VAR_051696 commonName VAR_051696
VAR_051696 disease not phenotype-associated
VAR_051697 commonName VAR_051697
VAR_051697 disease not phenotype-associated
VAR_051698 commonName VAR_051698
VAR_051698 disease not phenotype-associated
VAR_051699 commonName VAR_051699
VAR_051699 disease not phenotype-associated
VAR_051700 commonName VAR_051700
VAR_051700 disease not phenotype-associated
VAR_051701 commonName VAR_051701
VAR_051701 disease not phenotype-associated
VAR_051702 commonName VAR_051702
VAR_051702 disease not phenotype-associated
VAR_051703 commonName VAR_051703
VAR_051703 disease not phenotype-associated
VAR_051704 commonName VAR_051704
VAR_051704 disease not phenotype-associated
VAR_051705 commonName VAR_051705
VAR_051705 disease not phenotype-associated
VAR_051706 commonName VAR_051706
VAR_051706 disease not phenotype-associated
VAR_051707 commonName VAR_051707
VAR_051707 disease not phenotype-associated
VAR_051708 commonName VAR_051708
VAR_051708 disease not phenotype-associated
VAR_051710 commonName VAR_051710
VAR_051710 disease not phenotype-associated
VAR_051711 commonName VAR_051711
VAR_051711 disease not phenotype-associated
VAR_051712 commonName VAR_051712
VAR_051712 disease not phenotype-associated
VAR_051713 commonName VAR_051713
VAR_051713 disease not phenotype-associated
VAR_051714 commonName VAR_051714
VAR_051714 disease not phenotype-associated
VAR_051715 commonName VAR_051715
VAR_051715 disease not phenotype-associated
VAR_051716 commonName VAR_051716
VAR_051716 disease not phenotype-associated
VAR_051717 commonName VAR_051717
VAR_051717 disease not phenotype-associated
VAR_051718 commonName VAR_051718
VAR_051718 disease not phenotype-associated
VAR_051719 commonName VAR_051719
VAR_051719 disease not phenotype-associated
VAR_051720 commonName VAR_051720
VAR_051720 disease not phenotype-associated
VAR_051721 commonName VAR_051721
VAR_051721 disease not phenotype-associated
VAR_051722 commonName VAR_051722
VAR_051722 disease not phenotype-associated
VAR_051723 commonName VAR_051723
VAR_051723 disease not phenotype-associated
VAR_051724 commonName VAR_051724
VAR_051724 disease not phenotype-associated
VAR_051725 commonName VAR_051725
VAR_051725 disease not phenotype-associated
VAR_051726 commonName VAR_051726
VAR_051726 disease not phenotype-associated
VAR_051727 commonName VAR_051727
VAR_051727 disease not phenotype-associated
VAR_051728 commonName VAR_051728
VAR_051728 disease not phenotype-associated
VAR_051730 commonName VAR_051730
VAR_051730 disease not phenotype-associated
VAR_051731 commonName VAR_051731
VAR_051731 disease not phenotype-associated
VAR_051732 commonName VAR_051732
VAR_051732 disease not phenotype-associated
VAR_051733 commonName VAR_051733
VAR_051733 disease not phenotype-associated
VAR_051734 commonName VAR_051734
VAR_051734 disease not phenotype-associated
VAR_051735 commonName VAR_051735
VAR_051735 disease not phenotype-associated
VAR_051736 commonName VAR_051736
VAR_051736 disease not phenotype-associated
VAR_051737 commonName VAR_051737
VAR_051737 disease not phenotype-associated
VAR_051738 commonName VAR_051738
VAR_051738 disease not phenotype-associated
VAR_051739 commonName VAR_051739
VAR_051739 disease not phenotype-associated
VAR_051740 commonName VAR_051740
VAR_051740 disease not phenotype-associated
VAR_051741 commonName VAR_051741
VAR_051741 disease not phenotype-associated
VAR_051742 commonName VAR_051742
VAR_051742 disease not phenotype-associated
VAR_051743 commonName VAR_051743
VAR_051743 disease not phenotype-associated
VAR_051744 commonName VAR_051744
VAR_051744 disease not phenotype-associated
VAR_051746 commonName VAR_051746
VAR_051746 disease not phenotype-associated
VAR_051748 commonName VAR_051748
VAR_051748 disease not phenotype-associated
VAR_051749 commonName VAR_051749
VAR_051749 disease not phenotype-associated
VAR_051750 commonName VAR_051750
VAR_051750 disease not phenotype-associated
VAR_051751 commonName VAR_051751
VAR_051751 disease not phenotype-associated
VAR_051752 commonName VAR_051752
VAR_051752 disease not phenotype-associated
VAR_051753 commonName VAR_051753
VAR_051753 disease not phenotype-associated
VAR_051754 commonName VAR_051754
VAR_051754 disease not phenotype-associated
VAR_051755 commonName VAR_051755
VAR_051755 disease not phenotype-associated
VAR_051756 commonName VAR_051756
VAR_051756 disease not phenotype-associated
VAR_051757 commonName VAR_051757
VAR_051757 disease not phenotype-associated
VAR_051758 commonName VAR_051758
VAR_051758 disease not phenotype-associated
VAR_051759 commonName VAR_051759
VAR_051759 disease not phenotype-associated
VAR_051760 commonName VAR_051760
VAR_051760 disease not phenotype-associated
VAR_051761 commonName VAR_051761
VAR_051761 disease not phenotype-associated
VAR_051762 commonName VAR_051762
VAR_051762 disease not phenotype-associated
VAR_051763 commonName VAR_051763
VAR_051763 disease not phenotype-associated
VAR_051764 commonName VAR_051764
VAR_051764 disease not phenotype-associated
VAR_051765 commonName VAR_051765
VAR_051765 disease not phenotype-associated
VAR_051766 commonName VAR_051766
VAR_051766 disease not phenotype-associated
VAR_051767 commonName VAR_051767
VAR_051767 disease not phenotype-associated
VAR_051768 commonName VAR_051768
VAR_051768 disease not phenotype-associated
VAR_051769 commonName VAR_051769
VAR_051769 disease not phenotype-associated
VAR_051770 commonName VAR_051770
VAR_051770 disease not phenotype-associated
VAR_051771 commonName VAR_051771
VAR_051771 disease not phenotype-associated
VAR_051772 commonName VAR_051772
VAR_051772 disease not phenotype-associated
VAR_051773 commonName VAR_051773
VAR_051773 disease not phenotype-associated
VAR_051774 commonName VAR_051774
VAR_051774 disease not phenotype-associated
VAR_051775 commonName VAR_051775
VAR_051775 disease not phenotype-associated
VAR_051776 commonName VAR_051776
VAR_051776 disease not phenotype-associated
VAR_051777 commonName VAR_051777
VAR_051777 disease not phenotype-associated
VAR_051778 commonName VAR_051778
VAR_051778 disease not phenotype-associated
VAR_051779 commonName VAR_051779
VAR_051779 disease not phenotype-associated
VAR_051780 commonName VAR_051780
VAR_051780 disease not phenotype-associated
VAR_051781 commonName VAR_051781
VAR_051781 disease not phenotype-associated
VAR_051782 commonName VAR_051782
VAR_051782 disease not phenotype-associated
VAR_051783 commonName VAR_051783
VAR_051783 disease not phenotype-associated
VAR_051784 commonName VAR_051784
VAR_051784 disease not phenotype-associated
VAR_051785 commonName VAR_051785
VAR_051785 disease not phenotype-associated
VAR_051786 commonName VAR_051786
VAR_051786 disease not phenotype-associated
VAR_051787 commonName VAR_051787
VAR_051787 disease not phenotype-associated
VAR_051788 commonName VAR_051788
VAR_051788 disease not phenotype-associated
VAR_051790 commonName VAR_051790
VAR_051790 disease not phenotype-associated
VAR_051791 commonName VAR_051791
VAR_051791 disease not phenotype-associated
VAR_051792 commonName VAR_051792
VAR_051792 disease not phenotype-associated
VAR_051793 commonName VAR_051793
VAR_051793 disease not phenotype-associated
VAR_051794 commonName VAR_051794
VAR_051794 disease not phenotype-associated
VAR_051796 commonName VAR_051796
VAR_051796 disease not phenotype-associated
VAR_051797 commonName VAR_051797
VAR_051797 disease not phenotype-associated
VAR_051799 commonName VAR_051799
VAR_051799 disease not phenotype-associated
VAR_051800 commonName VAR_051800
VAR_051800 disease not phenotype-associated
VAR_051801 commonName VAR_051801
VAR_051801 disease not phenotype-associated
VAR_051802 commonName VAR_051802
VAR_051802 disease not phenotype-associated
VAR_051803 commonName VAR_051803
VAR_051803 disease not phenotype-associated
VAR_051804 commonName VAR_051804
VAR_051804 disease not phenotype-associated
VAR_051805 commonName VAR_051805
VAR_051805 disease not phenotype-associated
VAR_051806 commonName VAR_051806
VAR_051806 disease not phenotype-associated
VAR_051807 commonName VAR_051807
VAR_051807 disease not phenotype-associated
VAR_051809 commonName VAR_051809
VAR_051809 disease not phenotype-associated
VAR_051810 commonName VAR_051810
VAR_051810 disease not phenotype-associated
VAR_051811 commonName VAR_051811
VAR_051811 disease not phenotype-associated
VAR_051812 commonName VAR_051812
VAR_051812 disease not phenotype-associated
VAR_051813 commonName VAR_051813
VAR_051813 disease not phenotype-associated
VAR_051814 commonName VAR_051814
VAR_051814 disease not phenotype-associated
VAR_051815 commonName VAR_051815
VAR_051815 disease not phenotype-associated
VAR_051816 commonName VAR_051816
VAR_051816 disease not phenotype-associated
VAR_051817 commonName VAR_051817
VAR_051817 disease not phenotype-associated
VAR_051818 commonName VAR_051818
VAR_051818 disease not phenotype-associated
VAR_051819 commonName VAR_051819
VAR_051819 disease not phenotype-associated
VAR_051820 commonName VAR_051820
VAR_051820 disease not phenotype-associated
VAR_051821 commonName VAR_051821
VAR_051821 disease not phenotype-associated
VAR_051822 commonName VAR_051822
VAR_051822 disease not phenotype-associated
VAR_051823 commonName VAR_051823
VAR_051823 disease not phenotype-associated
VAR_051824 commonName VAR_051824
VAR_051824 disease not phenotype-associated
VAR_051825 commonName VAR_051825
VAR_051825 disease not phenotype-associated
VAR_051826 commonName VAR_051826
VAR_051826 disease not phenotype-associated
VAR_051827 commonName VAR_051827
VAR_051827 disease not phenotype-associated
VAR_051828 commonName VAR_051828
VAR_051828 disease not phenotype-associated
VAR_051829 commonName VAR_051829
VAR_051829 disease not phenotype-associated
VAR_051830 commonName VAR_051830
VAR_051830 disease not phenotype-associated
VAR_051831 commonName VAR_051831
VAR_051831 disease not phenotype-associated
VAR_051832 commonName VAR_051832
VAR_051832 disease not phenotype-associated
VAR_051833 commonName VAR_051833
VAR_051833 disease not phenotype-associated
VAR_051834 commonName VAR_051834
VAR_051834 disease not phenotype-associated
VAR_051835 commonName VAR_051835
VAR_051835 disease not phenotype-associated
VAR_051836 commonName VAR_051836
VAR_051836 disease not phenotype-associated
VAR_051837 commonName VAR_051837
VAR_051837 disease not phenotype-associated
VAR_051838 commonName VAR_051838
VAR_051838 disease not phenotype-associated
VAR_051839 commonName VAR_051839
VAR_051839 disease not phenotype-associated
VAR_051840 commonName VAR_051840
VAR_051840 disease not phenotype-associated
VAR_051841 commonName VAR_051841
VAR_051841 disease not phenotype-associated
VAR_051842 commonName VAR_051842
VAR_051842 disease not phenotype-associated
VAR_051843 commonName VAR_051843
VAR_051843 disease not phenotype-associated
VAR_051844 commonName VAR_051844
VAR_051844 disease not phenotype-associated
VAR_051845 commonName VAR_051845
VAR_051845 disease not phenotype-associated
VAR_051846 commonName VAR_051846
VAR_051846 disease not phenotype-associated
VAR_051848 commonName VAR_051848
VAR_051848 disease not phenotype-associated
VAR_051849 commonName VAR_051849
VAR_051849 disease not phenotype-associated
VAR_051850 commonName VAR_051850
VAR_051850 disease not phenotype-associated
VAR_051851 commonName VAR_051851
VAR_051851 disease not phenotype-associated
VAR_051852 commonName VAR_051852
VAR_051852 disease not phenotype-associated
VAR_051855 commonName VAR_051855
VAR_051855 disease not phenotype-associated
VAR_051856 commonName VAR_051856
VAR_051856 disease not phenotype-associated
VAR_051857 commonName VAR_051857
VAR_051857 disease not phenotype-associated
VAR_051859 commonName VAR_051859
VAR_051859 disease not phenotype-associated
VAR_051860 commonName VAR_051860
VAR_051860 disease not phenotype-associated
VAR_051861 commonName VAR_051861
VAR_051861 disease not phenotype-associated
VAR_051862 commonName VAR_051862
VAR_051862 disease not phenotype-associated
VAR_051863 commonName VAR_051863
VAR_051863 disease not phenotype-associated
VAR_051864 commonName VAR_051864
VAR_051864 disease not phenotype-associated
VAR_051865 commonName VAR_051865
VAR_051865 disease not phenotype-associated
VAR_051866 commonName VAR_051866
VAR_051866 disease not phenotype-associated
VAR_051867 commonName VAR_051867
VAR_051867 disease not phenotype-associated
VAR_051868 commonName VAR_051868
VAR_051868 disease not phenotype-associated
VAR_051869 commonName VAR_051869
VAR_051869 disease not phenotype-associated
VAR_051870 commonName VAR_051870
VAR_051870 disease not phenotype-associated
VAR_051871 commonName VAR_051871
VAR_051871 disease not phenotype-associated
VAR_051872 commonName VAR_051872
VAR_051872 disease not phenotype-associated
VAR_051873 commonName VAR_051873
VAR_051873 disease not phenotype-associated
VAR_051874 commonName VAR_051874
VAR_051874 disease not phenotype-associated
VAR_051875 commonName VAR_051875
VAR_051875 disease not phenotype-associated
VAR_051876 commonName VAR_051876
VAR_051876 disease not phenotype-associated
VAR_051877 commonName VAR_051877
VAR_051877 disease not phenotype-associated
VAR_051878 commonName VAR_051878
VAR_051878 disease not phenotype-associated
VAR_051879 commonName VAR_051879
VAR_051879 disease not phenotype-associated
VAR_051880 commonName VAR_051880
VAR_051880 disease not phenotype-associated
VAR_051881 commonName VAR_051881
VAR_051881 disease not phenotype-associated
VAR_051882 commonName VAR_051882
VAR_051882 disease not phenotype-associated
VAR_051883 commonName VAR_051883
VAR_051883 disease not phenotype-associated
VAR_051884 commonName VAR_051884
VAR_051884 disease not phenotype-associated
VAR_051885 commonName VAR_051885
VAR_051885 disease not phenotype-associated
VAR_051886 commonName VAR_051886
VAR_051886 disease not phenotype-associated
VAR_051887 commonName VAR_051887
VAR_051887 disease not phenotype-associated
VAR_051888 commonName VAR_051888
VAR_051888 disease not phenotype-associated
VAR_051889 commonName VAR_051889
VAR_051889 disease not phenotype-associated
VAR_051890 commonName VAR_051890
VAR_051890 disease not phenotype-associated
VAR_051891 commonName VAR_051891
VAR_051891 disease not phenotype-associated
VAR_051892 commonName VAR_051892
VAR_051892 disease not phenotype-associated
VAR_051893 commonName VAR_051893
VAR_051893 disease not phenotype-associated
VAR_051894 commonName VAR_051894
VAR_051894 disease not phenotype-associated
VAR_051895 commonName VAR_051895
VAR_051895 disease not phenotype-associated
VAR_051896 commonName VAR_051896
VAR_051896 disease not phenotype-associated
VAR_051897 commonName VAR_051897
VAR_051897 disease not phenotype-associated
VAR_051898 commonName VAR_051898
VAR_051898 disease not phenotype-associated
VAR_051899 commonName VAR_051899
VAR_051899 disease not phenotype-associated
VAR_051900 commonName VAR_051900
VAR_051900 disease not phenotype-associated
VAR_051901 commonName VAR_051901
VAR_051901 disease not phenotype-associated
VAR_051902 commonName VAR_051902
VAR_051902 disease not phenotype-associated
VAR_051905 commonName VAR_051905
VAR_051905 disease not phenotype-associated
VAR_051906 commonName VAR_051906
VAR_051906 disease not phenotype-associated
VAR_051907 commonName VAR_051907
VAR_051907 disease not phenotype-associated
VAR_051908 commonName VAR_051908
VAR_051908 disease not phenotype-associated
VAR_051909 commonName VAR_051909
VAR_051909 disease not phenotype-associated
VAR_051910 commonName VAR_051910
VAR_051910 disease not phenotype-associated
VAR_051911 commonName VAR_051911
VAR_051911 disease not phenotype-associated
VAR_051912 commonName VAR_051912
VAR_051912 disease not phenotype-associated
VAR_051913 commonName VAR_051913
VAR_051913 disease not phenotype-associated
VAR_051914 commonName VAR_051914
VAR_051914 disease not phenotype-associated
VAR_051915 commonName VAR_051915
VAR_051915 disease not phenotype-associated
VAR_051916 commonName VAR_051916
VAR_051916 disease not phenotype-associated
VAR_051917 commonName VAR_051917
VAR_051917 disease not phenotype-associated
VAR_051918 commonName VAR_051918
VAR_051918 disease not phenotype-associated
VAR_051919 commonName VAR_051919
VAR_051919 disease not phenotype-associated
VAR_051920 commonName VAR_051920
VAR_051920 disease not phenotype-associated
VAR_051921 commonName VAR_051921
VAR_051921 disease not phenotype-associated
VAR_051922 commonName VAR_051922
VAR_051922 disease not phenotype-associated
VAR_051923 commonName VAR_051923
VAR_051923 disease not phenotype-associated
VAR_051924 commonName VAR_051924
VAR_051924 disease not phenotype-associated
VAR_051925 commonName VAR_051925
VAR_051925 disease not phenotype-associated
VAR_051926 commonName VAR_051926
VAR_051926 disease not phenotype-associated
VAR_051927 commonName VAR_051927
VAR_051927 disease not phenotype-associated
VAR_051928 commonName VAR_051928
VAR_051928 disease not phenotype-associated
VAR_051929 commonName VAR_051929
VAR_051929 disease not phenotype-associated
VAR_051930 commonName VAR_051930
VAR_051930 disease not phenotype-associated
VAR_051931 commonName VAR_051931
VAR_051931 disease not phenotype-associated
VAR_051932 commonName VAR_051932
VAR_051932 disease not phenotype-associated
VAR_051933 commonName VAR_051933
VAR_051933 disease not phenotype-associated
VAR_051934 commonName VAR_051934
VAR_051934 disease not phenotype-associated
VAR_051935 commonName VAR_051935
VAR_051935 disease not phenotype-associated
VAR_051936 commonName VAR_051936
VAR_051936 disease not phenotype-associated
VAR_051937 commonName VAR_051937
VAR_051937 disease not phenotype-associated
VAR_051938 commonName VAR_051938
VAR_051938 disease not phenotype-associated
VAR_051939 commonName VAR_051939
VAR_051939 disease not phenotype-associated
VAR_051940 commonName VAR_051940
VAR_051940 disease not phenotype-associated
VAR_051941 commonName VAR_051941
VAR_051941 disease not phenotype-associated
VAR_051942 commonName VAR_051942
VAR_051942 disease not phenotype-associated
VAR_051943 commonName VAR_051943
VAR_051943 disease not phenotype-associated
VAR_051944 commonName VAR_051944
VAR_051944 disease not phenotype-associated
VAR_051945 commonName VAR_051945
VAR_051945 disease not phenotype-associated
VAR_051946 commonName VAR_051946
VAR_051946 disease not phenotype-associated
VAR_051949 commonName VAR_051949
VAR_051949 disease not phenotype-associated
VAR_051950 commonName VAR_051950
VAR_051950 disease not phenotype-associated
VAR_051951 commonName VAR_051951
VAR_051951 disease not phenotype-associated
VAR_051952 commonName VAR_051952
VAR_051952 disease not phenotype-associated
VAR_051953 commonName VAR_051953
VAR_051953 disease not phenotype-associated
VAR_051954 commonName VAR_051954
VAR_051954 disease not phenotype-associated
VAR_051955 commonName VAR_051955
VAR_051955 disease not phenotype-associated
VAR_051956 commonName VAR_051956
VAR_051956 disease not phenotype-associated
VAR_051957 commonName VAR_051957
VAR_051957 disease not phenotype-associated
VAR_051958 commonName VAR_051958
VAR_051958 disease not phenotype-associated
VAR_051959 commonName VAR_051959
VAR_051959 disease not phenotype-associated
VAR_051960 commonName VAR_051960
VAR_051960 disease not phenotype-associated
VAR_051961 commonName VAR_051961
VAR_051961 disease not phenotype-associated
VAR_051962 commonName VAR_051962
VAR_051962 disease not phenotype-associated
VAR_051963 commonName VAR_051963
VAR_051963 disease not phenotype-associated
VAR_051964 commonName VAR_051964
VAR_051964 disease not phenotype-associated
VAR_051965 commonName VAR_051965
VAR_051965 disease not phenotype-associated
VAR_051966 commonName VAR_051966
VAR_051966 disease not phenotype-associated
VAR_051968 commonName VAR_051968
VAR_051968 disease not phenotype-associated
VAR_051969 commonName VAR_051969
VAR_051969 disease not phenotype-associated
VAR_051970 commonName VAR_051970
VAR_051970 disease not phenotype-associated
VAR_051974 commonName VAR_051974
VAR_051974 disease not phenotype-associated
VAR_051975 commonName VAR_051975
VAR_051975 disease not phenotype-associated
VAR_051976 commonName VAR_051976
VAR_051976 disease not phenotype-associated
VAR_051977 commonName VAR_051977
VAR_051977 disease not phenotype-associated
VAR_051978 commonName VAR_051978
VAR_051978 disease not phenotype-associated
VAR_051980 commonName VAR_051980
VAR_051980 disease not phenotype-associated
VAR_051981 commonName VAR_051981
VAR_051981 disease not phenotype-associated
VAR_051983 commonName VAR_051983
VAR_051983 disease not phenotype-associated
VAR_051984 commonName VAR_051984
VAR_051984 disease not phenotype-associated
VAR_051985 commonName VAR_051985
VAR_051985 disease not phenotype-associated
VAR_051986 commonName VAR_051986
VAR_051986 disease not phenotype-associated
VAR_051987 commonName VAR_051987
VAR_051987 disease not phenotype-associated
VAR_051988 commonName VAR_051988
VAR_051988 disease not phenotype-associated
VAR_051991 commonName VAR_051991
VAR_051991 disease not phenotype-associated
VAR_051992 commonName VAR_051992
VAR_051992 disease not phenotype-associated
VAR_051993 commonName VAR_051993
VAR_051993 disease not phenotype-associated
VAR_051994 commonName VAR_051994
VAR_051994 disease not phenotype-associated
VAR_051995 commonName VAR_051995
VAR_051995 disease not phenotype-associated
VAR_051997 commonName VAR_051997
VAR_051997 disease not phenotype-associated
VAR_051998 commonName VAR_051998
VAR_051998 disease not phenotype-associated
VAR_051999 commonName VAR_051999
VAR_051999 disease not phenotype-associated
VAR_052000 commonName VAR_052000
VAR_052000 disease not phenotype-associated
VAR_052001 commonName VAR_052001
VAR_052001 disease not phenotype-associated
VAR_052002 commonName VAR_052002
VAR_052002 disease not phenotype-associated
VAR_052003 commonName VAR_052003
VAR_052003 disease not phenotype-associated
VAR_052004 commonName VAR_052004
VAR_052004 disease not phenotype-associated
VAR_052006 commonName VAR_052006
VAR_052006 disease not phenotype-associated
VAR_052007 commonName VAR_052007
VAR_052007 disease not phenotype-associated
VAR_052008 commonName VAR_052008
VAR_052008 disease not phenotype-associated
VAR_052009 commonName VAR_052009
VAR_052009 disease not phenotype-associated
VAR_052010 commonName VAR_052010
VAR_052010 disease not phenotype-associated
VAR_052011 commonName VAR_052011
VAR_052011 disease not phenotype-associated
VAR_052012 commonName VAR_052012
VAR_052012 disease not phenotype-associated
VAR_052013 commonName VAR_052013
VAR_052013 disease not phenotype-associated
VAR_052014 commonName VAR_052014
VAR_052014 disease not phenotype-associated
VAR_052015 commonName VAR_052015
VAR_052015 disease not phenotype-associated
VAR_052016 commonName VAR_052016
VAR_052016 disease not phenotype-associated
VAR_052017 commonName VAR_052017
VAR_052017 disease not phenotype-associated
VAR_052018 commonName VAR_052018
VAR_052018 disease not phenotype-associated
VAR_052019 commonName VAR_052019
VAR_052019 disease not phenotype-associated
VAR_052020 commonName VAR_052020
VAR_052020 disease not phenotype-associated
VAR_052021 commonName VAR_052021
VAR_052021 disease not phenotype-associated
VAR_052022 commonName VAR_052022
VAR_052022 disease not phenotype-associated
VAR_052023 commonName VAR_052023
VAR_052023 disease not phenotype-associated
VAR_052024 commonName VAR_052024
VAR_052024 disease not phenotype-associated
VAR_052025 commonName VAR_052025
VAR_052025 disease not phenotype-associated
VAR_052026 commonName VAR_052026
VAR_052026 disease not phenotype-associated
VAR_052027 commonName VAR_052027
VAR_052027 disease not phenotype-associated
VAR_052028 commonName VAR_052028
VAR_052028 disease not phenotype-associated
VAR_052029 commonName VAR_052029
VAR_052029 disease not phenotype-associated
VAR_052030 commonName VAR_052030
VAR_052030 disease not phenotype-associated
VAR_052032 commonName VAR_052032
VAR_052032 disease not phenotype-associated
VAR_052033 commonName VAR_052033
VAR_052033 disease not phenotype-associated
VAR_052034 commonName VAR_052034
VAR_052034 disease not phenotype-associated
VAR_052036 commonName VAR_052036
VAR_052036 disease not phenotype-associated
VAR_052037 commonName VAR_052037
VAR_052037 disease not phenotype-associated
VAR_052038 commonName VAR_052038
VAR_052038 disease not phenotype-associated
VAR_052039 commonName VAR_052039
VAR_052039 disease not phenotype-associated
VAR_052040 commonName VAR_052040
VAR_052040 disease not phenotype-associated
VAR_052041 commonName VAR_052041
VAR_052041 disease not phenotype-associated
VAR_052042 commonName VAR_052042
VAR_052042 disease not phenotype-associated
VAR_052045 commonName VAR_052045
VAR_052045 disease not phenotype-associated
VAR_052046 commonName VAR_052046
VAR_052046 disease not phenotype-associated
VAR_052047 commonName VAR_052047
VAR_052047 disease not phenotype-associated
VAR_052048 commonName VAR_052048
VAR_052048 disease not phenotype-associated
VAR_052049 commonName VAR_052049
VAR_052049 disease not phenotype-associated
VAR_052050 commonName VAR_052050
VAR_052050 disease not phenotype-associated
VAR_052051 commonName VAR_052051
VAR_052051 disease not phenotype-associated
VAR_052054 commonName VAR_052054
VAR_052054 disease not phenotype-associated
VAR_052055 commonName VAR_052055
VAR_052055 disease not phenotype-associated
VAR_052057 commonName VAR_052057
VAR_052057 disease not phenotype-associated
VAR_052058 commonName VAR_052058
VAR_052058 disease not phenotype-associated
VAR_052060 commonName VAR_052060
VAR_052060 disease not phenotype-associated
VAR_052061 commonName VAR_052061
VAR_052061 disease not phenotype-associated
VAR_052062 commonName VAR_052062
VAR_052062 disease not phenotype-associated
VAR_052063 commonName VAR_052063
VAR_052063 disease not phenotype-associated
VAR_052064 commonName VAR_052064
VAR_052064 disease not phenotype-associated
VAR_052065 commonName VAR_052065
VAR_052065 disease not phenotype-associated
VAR_052066 commonName VAR_052066
VAR_052066 disease not phenotype-associated
VAR_052067 commonName VAR_052067
VAR_052067 disease not phenotype-associated
VAR_052068 commonName VAR_052068
VAR_052068 disease not phenotype-associated
VAR_052069 commonName VAR_052069
VAR_052069 disease not phenotype-associated
VAR_052070 commonName VAR_052070
VAR_052070 disease not phenotype-associated
VAR_052071 commonName VAR_052071
VAR_052071 disease not phenotype-associated
VAR_052072 commonName VAR_052072
VAR_052072 disease not phenotype-associated
VAR_052073 commonName VAR_052073
VAR_052073 disease not phenotype-associated
VAR_052074 commonName VAR_052074
VAR_052074 disease not phenotype-associated
VAR_052075 commonName VAR_052075
VAR_052075 disease not phenotype-associated
VAR_052076 commonName VAR_052076
VAR_052076 disease not phenotype-associated
VAR_052077 commonName VAR_052077
VAR_052077 disease not phenotype-associated
VAR_052081 commonName VAR_052081
VAR_052081 disease not phenotype-associated
VAR_052082 commonName VAR_052082
VAR_052082 disease not phenotype-associated
VAR_052085 commonName VAR_052085
VAR_052085 disease not phenotype-associated
VAR_052086 commonName VAR_052086
VAR_052086 disease not phenotype-associated
VAR_052087 commonName VAR_052087
VAR_052087 disease not phenotype-associated
VAR_052091 commonName VAR_052091
VAR_052091 disease not phenotype-associated
VAR_052092 commonName VAR_052092
VAR_052092 disease not phenotype-associated
VAR_052093 commonName VAR_052093
VAR_052093 disease not phenotype-associated
VAR_052094 commonName VAR_052094
VAR_052094 disease not phenotype-associated
VAR_052095 commonName VAR_052095
VAR_052095 disease not phenotype-associated
VAR_052096 commonName VAR_052096
VAR_052096 disease not phenotype-associated
VAR_052098 commonName VAR_052098
VAR_052098 disease not phenotype-associated
VAR_052099 commonName VAR_052099
VAR_052099 disease not phenotype-associated
VAR_052100 commonName VAR_052100
VAR_052100 disease not phenotype-associated
VAR_052103 commonName VAR_052103
VAR_052103 disease not phenotype-associated
VAR_052104 commonName VAR_052104
VAR_052104 disease not phenotype-associated
VAR_052105 commonName VAR_052105
VAR_052105 disease not phenotype-associated
VAR_052106 commonName VAR_052106
VAR_052106 disease not phenotype-associated
VAR_052107 commonName VAR_052107
VAR_052107 disease not phenotype-associated
VAR_052108 commonName VAR_052108
VAR_052108 disease not phenotype-associated
VAR_052109 commonName VAR_052109
VAR_052109 disease not phenotype-associated
VAR_052111 commonName VAR_052111
VAR_052111 disease not phenotype-associated
VAR_052112 commonName VAR_052112
VAR_052112 disease not phenotype-associated
VAR_052113 commonName VAR_052113
VAR_052113 disease not phenotype-associated
VAR_052114 commonName VAR_052114
VAR_052114 disease not phenotype-associated
VAR_052116 commonName VAR_052116
VAR_052116 disease not phenotype-associated
VAR_052117 commonName VAR_052117
VAR_052117 disease not phenotype-associated
VAR_052118 commonName VAR_052118
VAR_052118 disease not phenotype-associated
VAR_052119 commonName VAR_052119
VAR_052119 disease not phenotype-associated
VAR_052120 commonName VAR_052120
VAR_052120 disease not phenotype-associated
VAR_052121 commonName VAR_052121
VAR_052121 disease not phenotype-associated
VAR_052122 commonName VAR_052122
VAR_052122 disease not phenotype-associated
VAR_052123 commonName VAR_052123
VAR_052123 disease not phenotype-associated
VAR_052124 commonName VAR_052124
VAR_052124 disease not phenotype-associated
VAR_052125 commonName VAR_052125
VAR_052125 disease not phenotype-associated
VAR_052134 commonName VAR_052134
VAR_052134 disease not phenotype-associated
VAR_052135 commonName VAR_052135
VAR_052135 disease not phenotype-associated
VAR_052136 commonName VAR_052136
VAR_052136 disease not phenotype-associated
VAR_052137 commonName VAR_052137
VAR_052137 disease not phenotype-associated
VAR_052142 commonName VAR_052142
VAR_052142 disease not phenotype-associated
VAR_052143 commonName VAR_052143
VAR_052143 disease not phenotype-associated
VAR_052144 commonName VAR_052144
VAR_052144 disease not phenotype-associated
VAR_052145 commonName VAR_052145
VAR_052145 disease not phenotype-associated
VAR_052147 commonName VAR_052147
VAR_052147 disease not phenotype-associated
VAR_052148 commonName VAR_052148
VAR_052148 disease not phenotype-associated
VAR_052149 commonName VAR_052149
VAR_052149 disease not phenotype-associated
VAR_052150 commonName VAR_052150
VAR_052150 disease not phenotype-associated
VAR_052151 commonName VAR_052151
VAR_052151 disease not phenotype-associated
VAR_052152 commonName VAR_052152
VAR_052152 disease not phenotype-associated
VAR_052153 commonName VAR_052153
VAR_052153 disease not phenotype-associated
VAR_052154 commonName VAR_052154
VAR_052154 disease not phenotype-associated
VAR_052155 commonName VAR_052155
VAR_052155 disease not phenotype-associated
VAR_052156 commonName VAR_052156
VAR_052156 disease not phenotype-associated
VAR_052157 commonName VAR_052157
VAR_052157 disease not phenotype-associated
VAR_052158 commonName VAR_052158
VAR_052158 disease not phenotype-associated
VAR_052159 commonName VAR_052159
VAR_052159 disease not phenotype-associated
VAR_052160 commonName VAR_052160
VAR_052160 disease not phenotype-associated
VAR_052161 commonName VAR_052161
VAR_052161 disease not phenotype-associated
VAR_052162 commonName VAR_052162
VAR_052162 disease not phenotype-associated
VAR_052163 commonName VAR_052163
VAR_052163 disease not phenotype-associated
VAR_052164 commonName VAR_052164
VAR_052164 disease not phenotype-associated
VAR_052166 commonName VAR_052166
VAR_052166 disease not phenotype-associated
VAR_052168 commonName VAR_052168
VAR_052168 disease not phenotype-associated
VAR_052169 commonName VAR_052169
VAR_052169 disease not phenotype-associated
VAR_052170 commonName VAR_052170
VAR_052170 disease not phenotype-associated
VAR_052171 commonName VAR_052171
VAR_052171 disease not phenotype-associated
VAR_052172 commonName VAR_052172
VAR_052172 disease not phenotype-associated
VAR_052173 commonName VAR_052173
VAR_052173 disease not phenotype-associated
VAR_052175 commonName VAR_052175
VAR_052175 disease not phenotype-associated
VAR_052176 commonName VAR_052176
VAR_052176 disease not phenotype-associated
VAR_052177 commonName VAR_052177
VAR_052177 disease not phenotype-associated
VAR_052178 commonName VAR_052178
VAR_052178 disease not phenotype-associated
VAR_052179 commonName VAR_052179
VAR_052179 disease not phenotype-associated
VAR_052180 commonName VAR_052180
VAR_052180 disease not phenotype-associated
VAR_052181 commonName VAR_052181
VAR_052181 disease not phenotype-associated
VAR_052182 commonName VAR_052182
VAR_052182 disease not phenotype-associated
VAR_052183 commonName VAR_052183
VAR_052183 disease not phenotype-associated
VAR_052184 commonName VAR_052184
VAR_052184 disease not phenotype-associated
VAR_052185 commonName VAR_052185
VAR_052185 disease not phenotype-associated
VAR_052186 commonName VAR_052186
VAR_052186 disease not phenotype-associated
VAR_052187 commonName VAR_052187
VAR_052187 disease not phenotype-associated
VAR_052188 commonName VAR_052188
VAR_052188 disease not phenotype-associated
VAR_052189 commonName VAR_052189
VAR_052189 disease not phenotype-associated
VAR_052190 commonName VAR_052190
VAR_052190 disease not phenotype-associated
VAR_052191 commonName VAR_052191
VAR_052191 disease not phenotype-associated
VAR_052192 commonName VAR_052192
VAR_052192 disease not phenotype-associated
VAR_052193 commonName VAR_052193
VAR_052193 disease not phenotype-associated
VAR_052194 commonName VAR_052194
VAR_052194 disease not phenotype-associated
VAR_052195 commonName VAR_052195
VAR_052195 disease not phenotype-associated
VAR_052196 commonName VAR_052196
VAR_052196 disease not phenotype-associated
VAR_052197 commonName VAR_052197
VAR_052197 disease not phenotype-associated
VAR_052198 commonName VAR_052198
VAR_052198 disease not phenotype-associated
VAR_052199 commonName VAR_052199
VAR_052199 disease not phenotype-associated
VAR_052200 commonName VAR_052200
VAR_052200 disease not phenotype-associated
VAR_052201 commonName VAR_052201
VAR_052201 disease not phenotype-associated
VAR_052203 commonName VAR_052203
VAR_052203 disease not phenotype-associated
VAR_052204 commonName VAR_052204
VAR_052204 disease not phenotype-associated
VAR_052205 commonName VAR_052205
VAR_052205 disease not phenotype-associated
VAR_052206 commonName VAR_052206
VAR_052206 disease not phenotype-associated
VAR_052207 commonName VAR_052207
VAR_052207 disease not phenotype-associated
VAR_052208 commonName VAR_052208
VAR_052208 disease not phenotype-associated
VAR_052209 commonName VAR_052209
VAR_052209 disease not phenotype-associated
VAR_052210 commonName VAR_052210
VAR_052210 disease not phenotype-associated
VAR_052211 commonName VAR_052211
VAR_052211 disease not phenotype-associated
VAR_052212 commonName VAR_052212
VAR_052212 disease not phenotype-associated
VAR_052213 commonName VAR_052213
VAR_052213 disease not phenotype-associated
VAR_052214 commonName VAR_052214
VAR_052214 disease not phenotype-associated
VAR_052215 commonName VAR_052215
VAR_052215 disease not phenotype-associated
VAR_052217 commonName VAR_052217
VAR_052217 disease not phenotype-associated
VAR_052218 commonName VAR_052218
VAR_052218 disease not phenotype-associated
VAR_052219 commonName VAR_052219
VAR_052219 disease not phenotype-associated
VAR_052220 commonName VAR_052220
VAR_052220 disease not phenotype-associated
VAR_052221 commonName VAR_052221
VAR_052221 disease not phenotype-associated
VAR_052223 commonName VAR_052223
VAR_052223 disease not phenotype-associated
VAR_052224 commonName VAR_052224
VAR_052224 disease not phenotype-associated
VAR_052225 commonName VAR_052225
VAR_052225 disease not phenotype-associated
VAR_052226 commonName VAR_052226
VAR_052226 disease not phenotype-associated
VAR_052227 commonName VAR_052227
VAR_052227 disease not phenotype-associated
VAR_052228 commonName VAR_052228
VAR_052228 disease not phenotype-associated
VAR_052229 commonName VAR_052229
VAR_052229 disease not phenotype-associated
VAR_052230 commonName VAR_052230
VAR_052230 disease not phenotype-associated
VAR_052231 commonName VAR_052231
VAR_052231 disease not phenotype-associated
VAR_052232 commonName VAR_052232
VAR_052232 disease not phenotype-associated
VAR_052233 commonName VAR_052233
VAR_052233 disease not phenotype-associated
VAR_052234 commonName VAR_052234
VAR_052234 disease not phenotype-associated
VAR_052235 commonName VAR_052235
VAR_052235 disease not phenotype-associated
VAR_052236 commonName VAR_052236
VAR_052236 disease not phenotype-associated
VAR_052237 commonName VAR_052237
VAR_052237 disease not phenotype-associated
VAR_052239 commonName VAR_052239
VAR_052239 disease not phenotype-associated
VAR_052240 commonName VAR_052240
VAR_052240 disease not phenotype-associated
VAR_052241 commonName VAR_052241
VAR_052241 disease not phenotype-associated
VAR_052242 commonName VAR_052242
VAR_052242 disease not phenotype-associated
VAR_052243 commonName VAR_052243
VAR_052243 disease not phenotype-associated
VAR_052245 commonName VAR_052245
VAR_052245 disease not phenotype-associated
VAR_052246 commonName VAR_052246
VAR_052246 disease not phenotype-associated
VAR_052247 commonName VAR_052247
VAR_052247 disease not phenotype-associated
VAR_052248 commonName VAR_052248
VAR_052248 disease not phenotype-associated
VAR_052249 commonName VAR_052249
VAR_052249 disease not phenotype-associated
VAR_052250 commonName VAR_052250
VAR_052250 disease not phenotype-associated
VAR_052251 commonName VAR_052251
VAR_052251 disease not phenotype-associated
VAR_052252 commonName VAR_052252
VAR_052252 disease not phenotype-associated
VAR_052253 commonName VAR_052253
VAR_052253 disease not phenotype-associated
VAR_052254 commonName VAR_052254
VAR_052254 disease not phenotype-associated
VAR_052255 commonName VAR_052255
VAR_052255 disease not phenotype-associated
VAR_052256 commonName VAR_052256
VAR_052256 disease not phenotype-associated
VAR_052257 commonName VAR_052257
VAR_052257 disease not phenotype-associated
VAR_052258 commonName VAR_052258
VAR_052258 disease not phenotype-associated
VAR_052259 commonName VAR_052259
VAR_052259 disease not phenotype-associated
VAR_052260 commonName VAR_052260
VAR_052260 disease not phenotype-associated
VAR_052261 commonName VAR_052261
VAR_052261 disease not phenotype-associated
VAR_052262 commonName VAR_052262
VAR_052262 disease not phenotype-associated
VAR_052263 commonName VAR_052263
VAR_052263 disease not phenotype-associated
VAR_052264 commonName VAR_052264
VAR_052264 disease not phenotype-associated
VAR_052265 commonName VAR_052265
VAR_052265 disease not phenotype-associated
VAR_052266 commonName VAR_052266
VAR_052266 disease not phenotype-associated
VAR_052267 commonName VAR_052267
VAR_052267 disease not phenotype-associated
VAR_052268 commonName VAR_052268
VAR_052268 disease not phenotype-associated
VAR_052269 commonName VAR_052269
VAR_052269 disease not phenotype-associated
VAR_052270 commonName VAR_052270
VAR_052270 disease not phenotype-associated
VAR_052271 commonName VAR_052271
VAR_052271 disease not phenotype-associated
VAR_052272 commonName VAR_052272
VAR_052272 disease not phenotype-associated
VAR_052274 commonName VAR_052274
VAR_052274 disease not phenotype-associated
VAR_052275 commonName VAR_052275
VAR_052275 disease not phenotype-associated
VAR_052276 commonName VAR_052276
VAR_052276 disease not phenotype-associated
VAR_052277 commonName VAR_052277
VAR_052277 disease not phenotype-associated
VAR_052278 commonName VAR_052278
VAR_052278 disease not phenotype-associated
VAR_052280 commonName VAR_052280
VAR_052280 disease not phenotype-associated
VAR_052281 commonName VAR_052281
VAR_052281 disease not phenotype-associated
VAR_052282 commonName VAR_052282
VAR_052282 disease not phenotype-associated
VAR_052283 commonName VAR_052283
VAR_052283 disease not phenotype-associated
VAR_052284 commonName VAR_052284
VAR_052284 disease not phenotype-associated
VAR_052285 commonName VAR_052285
VAR_052285 disease not phenotype-associated
VAR_052286 commonName VAR_052286
VAR_052286 disease not phenotype-associated
VAR_052288 commonName VAR_052288
VAR_052288 disease not phenotype-associated
VAR_052289 commonName VAR_052289
VAR_052289 disease not phenotype-associated
VAR_052290 commonName VAR_052290
VAR_052290 disease not phenotype-associated
VAR_052291 commonName VAR_052291
VAR_052291 disease not phenotype-associated
VAR_052292 commonName VAR_052292
VAR_052292 disease not phenotype-associated
VAR_052293 commonName VAR_052293
VAR_052293 disease not phenotype-associated
VAR_052294 commonName VAR_052294
VAR_052294 disease not phenotype-associated
VAR_052295 commonName VAR_052295
VAR_052295 disease not phenotype-associated
VAR_052296 commonName VAR_052296
VAR_052296 disease not phenotype-associated
VAR_052297 commonName VAR_052297
VAR_052297 disease not phenotype-associated
VAR_052298 commonName VAR_052298
VAR_052298 disease not phenotype-associated
VAR_052299 commonName VAR_052299
VAR_052299 disease not phenotype-associated
VAR_052300 commonName VAR_052300
VAR_052300 disease not phenotype-associated
VAR_052301 commonName VAR_052301
VAR_052301 disease not phenotype-associated
VAR_052302 commonName VAR_052302
VAR_052302 disease not phenotype-associated
VAR_052303 commonName VAR_052303
VAR_052303 disease not phenotype-associated
VAR_052304 commonName VAR_052304
VAR_052304 disease not phenotype-associated
VAR_052305 commonName VAR_052305
VAR_052305 disease not phenotype-associated
VAR_052306 commonName VAR_052306
VAR_052306 disease not phenotype-associated
VAR_052307 commonName VAR_052307
VAR_052307 disease not phenotype-associated
VAR_052308 commonName VAR_052308
VAR_052308 disease not phenotype-associated
VAR_052309 commonName VAR_052309
VAR_052309 disease not phenotype-associated
VAR_052310 commonName VAR_052310
VAR_052310 disease not phenotype-associated
VAR_052311 commonName VAR_052311
VAR_052311 disease not phenotype-associated
VAR_052312 commonName VAR_052312
VAR_052312 disease not phenotype-associated
VAR_052317 commonName VAR_052317
VAR_052317 disease not phenotype-associated
VAR_052318 commonName VAR_052318
VAR_052318 disease not phenotype-associated
VAR_052319 commonName VAR_052319
VAR_052319 disease not phenotype-associated
VAR_052320 commonName VAR_052320
VAR_052320 disease not phenotype-associated
VAR_052321 commonName VAR_052321
VAR_052321 disease not phenotype-associated
VAR_052322 commonName VAR_052322
VAR_052322 disease not phenotype-associated
VAR_052323 commonName VAR_052323
VAR_052323 disease not phenotype-associated
VAR_052324 commonName VAR_052324
VAR_052324 disease not phenotype-associated
VAR_052325 commonName VAR_052325
VAR_052325 disease not phenotype-associated
VAR_052326 commonName VAR_052326
VAR_052326 disease not phenotype-associated
VAR_052327 commonName VAR_052327
VAR_052327 disease not phenotype-associated
VAR_052328 commonName VAR_052328
VAR_052328 disease not phenotype-associated
VAR_052329 commonName VAR_052329
VAR_052329 disease not phenotype-associated
VAR_052330 commonName VAR_052330
VAR_052330 disease not phenotype-associated
VAR_052331 commonName VAR_052331
VAR_052331 disease not phenotype-associated
VAR_052332 commonName VAR_052332
VAR_052332 disease not phenotype-associated
VAR_052333 commonName VAR_052333
VAR_052333 disease not phenotype-associated
VAR_052334 commonName VAR_052334
VAR_052334 disease not phenotype-associated
VAR_052335 commonName VAR_052335
VAR_052335 disease not phenotype-associated
VAR_052336 commonName VAR_052336
VAR_052336 disease not phenotype-associated
VAR_052337 commonName VAR_052337
VAR_052337 disease not phenotype-associated
VAR_052338 commonName VAR_052338
VAR_052338 disease not phenotype-associated
VAR_052339 commonName VAR_052339
VAR_052339 disease not phenotype-associated
VAR_052340 commonName VAR_052340
VAR_052340 disease not phenotype-associated
VAR_052341 commonName VAR_052341
VAR_052341 disease not phenotype-associated
VAR_052342 commonName VAR_052342
VAR_052342 disease not phenotype-associated
VAR_052343 commonName VAR_052343
VAR_052343 disease not phenotype-associated
VAR_052344 commonName VAR_052344
VAR_052344 disease not phenotype-associated
VAR_052345 commonName VAR_052345
VAR_052345 disease not phenotype-associated
VAR_052346 commonName VAR_052346
VAR_052346 disease not phenotype-associated
VAR_052347 commonName VAR_052347
VAR_052347 disease not phenotype-associated
VAR_052348 commonName VAR_052348
VAR_052348 disease not phenotype-associated
VAR_052349 commonName VAR_052349
VAR_052349 disease not phenotype-associated
VAR_052350 commonName VAR_052350
VAR_052350 disease not phenotype-associated
VAR_052351 commonName VAR_052351
VAR_052351 disease not phenotype-associated
VAR_052352 commonName VAR_052352
VAR_052352 disease not phenotype-associated
VAR_052353 commonName VAR_052353
VAR_052353 disease not phenotype-associated
VAR_052354 commonName VAR_052354
VAR_052354 disease not phenotype-associated
VAR_052355 commonName VAR_052355
VAR_052355 disease not phenotype-associated
VAR_052356 commonName VAR_052356
VAR_052356 disease not phenotype-associated
VAR_052358 commonName VAR_052358
VAR_052358 disease not phenotype-associated
VAR_052359 commonName VAR_052359
VAR_052359 disease not phenotype-associated
VAR_052360 commonName VAR_052360
VAR_052360 disease not phenotype-associated
VAR_052361 commonName VAR_052361
VAR_052361 disease not phenotype-associated
VAR_052362 commonName VAR_052362
VAR_052362 disease not phenotype-associated
VAR_052363 commonName VAR_052363
VAR_052363 disease not phenotype-associated
VAR_052364 commonName VAR_052364
VAR_052364 disease not phenotype-associated
VAR_052365 commonName VAR_052365
VAR_052365 disease not phenotype-associated
VAR_052366 commonName VAR_052366
VAR_052366 disease not phenotype-associated
VAR_052367 commonName VAR_052367
VAR_052367 disease not phenotype-associated
VAR_052368 commonName VAR_052368
VAR_052368 disease not phenotype-associated
VAR_052369 commonName VAR_052369
VAR_052369 disease not phenotype-associated
VAR_052370 commonName VAR_052370
VAR_052370 disease not phenotype-associated
VAR_052371 commonName VAR_052371
VAR_052371 disease not phenotype-associated
VAR_052372 commonName VAR_052372
VAR_052372 disease not phenotype-associated
VAR_052373 commonName VAR_052373
VAR_052373 disease not phenotype-associated
VAR_052374 commonName VAR_052374
VAR_052374 disease not phenotype-associated
VAR_052375 commonName VAR_052375
VAR_052375 disease not phenotype-associated
VAR_052376 commonName VAR_052376
VAR_052376 disease not phenotype-associated
VAR_052377 commonName VAR_052377
VAR_052377 disease not phenotype-associated
VAR_052378 commonName VAR_052378
VAR_052378 disease not phenotype-associated
VAR_052379 commonName VAR_052379
VAR_052379 disease not phenotype-associated
VAR_052380 commonName VAR_052380
VAR_052380 disease not phenotype-associated
VAR_052381 commonName VAR_052381
VAR_052381 disease not phenotype-associated
VAR_052382 commonName VAR_052382
VAR_052382 disease not phenotype-associated
VAR_052383 commonName VAR_052383
VAR_052383 disease not phenotype-associated
VAR_052384 commonName VAR_052384
VAR_052384 disease not phenotype-associated
VAR_052385 commonName VAR_052385
VAR_052385 disease not phenotype-associated
VAR_052386 commonName VAR_052386
VAR_052386 disease not phenotype-associated
VAR_052387 commonName VAR_052387
VAR_052387 disease not phenotype-associated
VAR_052388 commonName VAR_052388
VAR_052388 disease not phenotype-associated
VAR_052389 commonName VAR_052389
VAR_052389 disease not phenotype-associated
VAR_052391 commonName VAR_052391
VAR_052391 disease not phenotype-associated
VAR_052393 commonName VAR_052393
VAR_052393 disease not phenotype-associated
VAR_052394 commonName VAR_052394
VAR_052394 disease not phenotype-associated
VAR_052395 commonName VAR_052395
VAR_052395 disease not phenotype-associated
VAR_052396 commonName VAR_052396
VAR_052396 disease not phenotype-associated
VAR_052397 commonName VAR_052397
VAR_052397 disease not phenotype-associated
VAR_052398 commonName VAR_052398
VAR_052398 disease not phenotype-associated
VAR_052399 commonName VAR_052399
VAR_052399 disease not phenotype-associated
VAR_052401 commonName VAR_052401
VAR_052401 disease not phenotype-associated
VAR_052402 commonName VAR_052402
VAR_052402 disease not phenotype-associated
VAR_052403 commonName VAR_052403
VAR_052403 disease not phenotype-associated
VAR_052405 commonName VAR_052405
VAR_052405 disease not phenotype-associated
VAR_052406 commonName VAR_052406
VAR_052406 disease not phenotype-associated
VAR_052408 commonName VAR_052408
VAR_052408 disease not phenotype-associated
VAR_052409 commonName VAR_052409
VAR_052409 disease not phenotype-associated
VAR_052410 commonName VAR_052410
VAR_052410 disease not phenotype-associated
VAR_052411 commonName VAR_052411
VAR_052411 disease not phenotype-associated
VAR_052412 commonName VAR_052412
VAR_052412 disease not phenotype-associated
VAR_052413 commonName VAR_052413
VAR_052413 disease not phenotype-associated
VAR_052414 commonName VAR_052414
VAR_052414 disease not phenotype-associated
VAR_052415 commonName VAR_052415
VAR_052415 disease not phenotype-associated
VAR_052416 commonName VAR_052416
VAR_052416 disease not phenotype-associated
VAR_052417 commonName VAR_052417
VAR_052417 disease not phenotype-associated
VAR_052418 commonName VAR_052418
VAR_052418 disease not phenotype-associated
VAR_052419 commonName VAR_052419
VAR_052419 disease not phenotype-associated
VAR_052420 commonName VAR_052420
VAR_052420 disease not phenotype-associated
VAR_052421 commonName VAR_052421
VAR_052421 disease not phenotype-associated
VAR_052422 commonName VAR_052422
VAR_052422 disease not phenotype-associated
VAR_052423 commonName VAR_052423
VAR_052423 disease not phenotype-associated
VAR_052424 commonName VAR_052424
VAR_052424 disease not phenotype-associated
VAR_052425 commonName VAR_052425
VAR_052425 disease not phenotype-associated
VAR_052426 commonName VAR_052426
VAR_052426 disease not phenotype-associated
VAR_052428 commonName VAR_052428
VAR_052428 disease not phenotype-associated
VAR_052429 commonName VAR_052429
VAR_052429 disease not phenotype-associated
VAR_052430 commonName VAR_052430
VAR_052430 disease not phenotype-associated
VAR_052431 commonName VAR_052431
VAR_052431 disease not phenotype-associated
VAR_052432 commonName VAR_052432
VAR_052432 disease not phenotype-associated
VAR_052433 commonName VAR_052433
VAR_052433 disease not phenotype-associated
VAR_052434 commonName VAR_052434
VAR_052434 disease not phenotype-associated
VAR_052435 commonName VAR_052435
VAR_052435 disease not phenotype-associated
VAR_052436 commonName VAR_052436
VAR_052436 disease not phenotype-associated
VAR_052437 commonName VAR_052437
VAR_052437 disease not phenotype-associated
VAR_052438 commonName VAR_052438
VAR_052438 disease not phenotype-associated
VAR_052439 commonName VAR_052439
VAR_052439 disease not phenotype-associated
VAR_052440 commonName VAR_052440
VAR_052440 disease not phenotype-associated
VAR_052441 commonName VAR_052441
VAR_052441 disease not phenotype-associated
VAR_052442 commonName VAR_052442
VAR_052442 disease not phenotype-associated
VAR_052443 commonName VAR_052443
VAR_052443 disease not phenotype-associated
VAR_052444 commonName VAR_052444
VAR_052444 disease not phenotype-associated
VAR_052445 commonName VAR_052445
VAR_052445 disease not phenotype-associated
VAR_052446 commonName VAR_052446
VAR_052446 disease not phenotype-associated
VAR_052447 commonName VAR_052447
VAR_052447 disease not phenotype-associated
VAR_052448 commonName VAR_052448
VAR_052448 disease not phenotype-associated
VAR_052449 commonName VAR_052449
VAR_052449 disease not phenotype-associated
VAR_052450 commonName VAR_052450
VAR_052450 disease not phenotype-associated
VAR_052451 commonName VAR_052451
VAR_052451 disease not phenotype-associated
VAR_052452 commonName VAR_052452
VAR_052452 disease not phenotype-associated
VAR_052453 commonName VAR_052453
VAR_052453 disease not phenotype-associated
VAR_052454 commonName VAR_052454
VAR_052454 disease not phenotype-associated
VAR_052455 commonName VAR_052455
VAR_052455 disease not phenotype-associated
VAR_052456 commonName VAR_052456
VAR_052456 disease not phenotype-associated
VAR_052457 commonName VAR_052457
VAR_052457 disease not phenotype-associated
VAR_052458 commonName VAR_052458
VAR_052458 disease not phenotype-associated
VAR_052459 commonName VAR_052459
VAR_052459 disease not phenotype-associated
VAR_052460 commonName VAR_052460
VAR_052460 disease not phenotype-associated
VAR_052461 commonName VAR_052461
VAR_052461 disease not phenotype-associated
VAR_052462 commonName VAR_052462
VAR_052462 disease not phenotype-associated
VAR_052463 commonName VAR_052463
VAR_052463 disease not phenotype-associated
VAR_052464 commonName VAR_052464
VAR_052464 disease not phenotype-associated
VAR_052465 commonName VAR_052465
VAR_052465 disease not phenotype-associated
VAR_052466 commonName VAR_052466
VAR_052466 disease not phenotype-associated
VAR_052467 commonName VAR_052467
VAR_052467 disease not phenotype-associated
VAR_052468 commonName VAR_052468
VAR_052468 disease not phenotype-associated
VAR_052469 commonName VAR_052469
VAR_052469 disease not phenotype-associated
VAR_052470 commonName VAR_052470
VAR_052470 disease not phenotype-associated
VAR_052471 commonName VAR_052471
VAR_052471 disease not phenotype-associated
VAR_052472 commonName VAR_052472
VAR_052472 disease not phenotype-associated
VAR_052473 commonName VAR_052473
VAR_052473 disease not phenotype-associated
VAR_052474 commonName VAR_052474
VAR_052474 disease not phenotype-associated
VAR_052475 commonName VAR_052475
VAR_052475 disease not phenotype-associated
VAR_052476 commonName VAR_052476
VAR_052476 disease not phenotype-associated
VAR_052477 commonName VAR_052477
VAR_052477 disease not phenotype-associated
VAR_052478 commonName VAR_052478
VAR_052478 disease not phenotype-associated
VAR_052479 commonName VAR_052479
VAR_052479 disease not phenotype-associated
VAR_052480 commonName VAR_052480
VAR_052480 disease not phenotype-associated
VAR_052481 commonName VAR_052481
VAR_052481 disease not phenotype-associated
VAR_052482 commonName VAR_052482
VAR_052482 disease not phenotype-associated
VAR_052483 commonName VAR_052483
VAR_052483 disease not phenotype-associated
VAR_052484 commonName VAR_052484
VAR_052484 disease not phenotype-associated
VAR_052485 commonName VAR_052485
VAR_052485 disease not phenotype-associated
VAR_052486 commonName VAR_052486
VAR_052486 disease not phenotype-associated
VAR_052487 commonName VAR_052487
VAR_052487 disease not phenotype-associated
VAR_052488 commonName VAR_052488
VAR_052488 disease not phenotype-associated
VAR_052489 commonName VAR_052489
VAR_052489 disease not phenotype-associated
VAR_052490 commonName VAR_052490
VAR_052490 disease not phenotype-associated
VAR_052491 commonName VAR_052491
VAR_052491 disease not phenotype-associated
VAR_052492 commonName VAR_052492
VAR_052492 disease not phenotype-associated
VAR_052493 commonName VAR_052493
VAR_052493 disease not phenotype-associated
VAR_052494 commonName VAR_052494
VAR_052494 disease not phenotype-associated
VAR_052495 commonName VAR_052495
VAR_052495 disease not phenotype-associated
VAR_052496 commonName VAR_052496
VAR_052496 disease not phenotype-associated
VAR_052497 commonName VAR_052497
VAR_052497 disease not phenotype-associated
VAR_052498 commonName VAR_052498
VAR_052498 disease not phenotype-associated
VAR_052499 commonName VAR_052499
VAR_052499 disease not phenotype-associated
VAR_052500 commonName VAR_052500
VAR_052500 disease not phenotype-associated
VAR_052502 commonName VAR_052502
VAR_052502 disease not phenotype-associated
VAR_052503 commonName VAR_052503
VAR_052503 disease not phenotype-associated
VAR_052504 commonName VAR_052504
VAR_052504 disease not phenotype-associated
VAR_052505 commonName VAR_052505
VAR_052505 disease not phenotype-associated
VAR_052506 commonName VAR_052506
VAR_052506 disease not phenotype-associated
VAR_052507 commonName VAR_052507
VAR_052507 disease not phenotype-associated
VAR_052508 commonName VAR_052508
VAR_052508 disease not phenotype-associated
VAR_052509 commonName VAR_052509
VAR_052509 disease not phenotype-associated
VAR_052510 commonName VAR_052510
VAR_052510 disease not phenotype-associated
VAR_052511 commonName VAR_052511
VAR_052511 disease not phenotype-associated
VAR_052512 commonName VAR_052512
VAR_052512 disease not phenotype-associated
VAR_052513 commonName VAR_052513
VAR_052513 disease not phenotype-associated
VAR_052514 commonName VAR_052514
VAR_052514 disease not phenotype-associated
VAR_052518 commonName VAR_052518
VAR_052518 disease not phenotype-associated
VAR_052519 commonName VAR_052519
VAR_052519 disease not phenotype-associated
VAR_052520 commonName VAR_052520
VAR_052520 disease not phenotype-associated
VAR_052521 commonName VAR_052521
VAR_052521 disease not phenotype-associated
VAR_052522 commonName VAR_052522
VAR_052522 disease not phenotype-associated
VAR_052523 commonName VAR_052523
VAR_052523 disease not phenotype-associated
VAR_052524 commonName VAR_052524
VAR_052524 disease not phenotype-associated
VAR_052525 commonName VAR_052525
VAR_052525 disease not phenotype-associated
VAR_052526 commonName VAR_052526
VAR_052526 disease not phenotype-associated
VAR_052528 commonName VAR_052528
VAR_052528 disease not phenotype-associated
VAR_052529 commonName VAR_052529
VAR_052529 disease not phenotype-associated
VAR_052530 commonName VAR_052530
VAR_052530 disease not phenotype-associated
VAR_052531 commonName VAR_052531
VAR_052531 disease not phenotype-associated
VAR_052532 commonName VAR_052532
VAR_052532 disease not phenotype-associated
VAR_052533 commonName VAR_052533
VAR_052533 disease not phenotype-associated
VAR_052534 commonName VAR_052534
VAR_052534 disease not phenotype-associated
VAR_052535 commonName VAR_052535
VAR_052535 disease not phenotype-associated
VAR_052536 commonName VAR_052536
VAR_052536 disease not phenotype-associated
VAR_052537 commonName VAR_052537
VAR_052537 disease not phenotype-associated
VAR_052538 commonName VAR_052538
VAR_052538 disease not phenotype-associated
VAR_052539 commonName VAR_052539
VAR_052539 disease not phenotype-associated
VAR_052540 commonName VAR_052540
VAR_052540 disease not phenotype-associated
VAR_052541 commonName VAR_052541
VAR_052541 disease not phenotype-associated
VAR_052543 commonName VAR_052543
VAR_052543 disease not phenotype-associated
VAR_052544 commonName VAR_052544
VAR_052544 disease not phenotype-associated
VAR_052545 commonName VAR_052545
VAR_052545 disease not phenotype-associated
VAR_052546 commonName VAR_052546
VAR_052546 disease not phenotype-associated
VAR_052547 commonName VAR_052547
VAR_052547 disease not phenotype-associated
VAR_052549 commonName VAR_052549
VAR_052549 disease not phenotype-associated
VAR_052550 commonName VAR_052550
VAR_052550 disease not phenotype-associated
VAR_052551 commonName VAR_052551
VAR_052551 disease not phenotype-associated
VAR_052552 commonName VAR_052552
VAR_052552 disease not phenotype-associated
VAR_052553 commonName VAR_052553
VAR_052553 disease not phenotype-associated
VAR_052554 commonName VAR_052554
VAR_052554 disease not phenotype-associated
VAR_052555 commonName VAR_052555
VAR_052555 disease not phenotype-associated
VAR_052556 commonName VAR_052556
VAR_052556 disease not phenotype-associated
VAR_052557 commonName VAR_052557
VAR_052557 disease not phenotype-associated
VAR_052558 commonName VAR_052558
VAR_052558 disease not phenotype-associated
VAR_052559 commonName VAR_052559
VAR_052559 disease not phenotype-associated
VAR_052560 commonName VAR_052560
VAR_052560 disease not phenotype-associated
VAR_052561 commonName VAR_052561
VAR_052561 disease not phenotype-associated
VAR_052562 commonName VAR_052562
VAR_052562 disease not phenotype-associated
VAR_052563 commonName VAR_052563
VAR_052563 disease not phenotype-associated
VAR_052566 commonName VAR_052566
VAR_052566 disease not phenotype-associated
VAR_052567 commonName VAR_052567
VAR_052567 disease not phenotype-associated
VAR_052568 commonName VAR_052568
VAR_052568 disease not phenotype-associated
VAR_052569 commonName VAR_052569
VAR_052569 disease not phenotype-associated
VAR_052570 commonName VAR_052570
VAR_052570 disease not phenotype-associated
VAR_052571 commonName VAR_052571
VAR_052571 disease not phenotype-associated
VAR_052572 commonName VAR_052572
VAR_052572 disease not phenotype-associated
VAR_052573 commonName VAR_052573
VAR_052573 disease not phenotype-associated
VAR_052574 commonName VAR_052574
VAR_052574 disease not phenotype-associated
VAR_052575 commonName VAR_052575
VAR_052575 disease not phenotype-associated
VAR_052576 commonName VAR_052576
VAR_052576 disease not phenotype-associated
VAR_052577 commonName VAR_052577
VAR_052577 disease not phenotype-associated
VAR_052578 commonName VAR_052578
VAR_052578 disease not phenotype-associated
VAR_052579 commonName VAR_052579
VAR_052579 disease not phenotype-associated
VAR_052580 commonName VAR_052580
VAR_052580 disease not phenotype-associated
VAR_052581 commonName VAR_052581
VAR_052581 disease not phenotype-associated
VAR_052582 commonName VAR_052582
VAR_052582 disease not phenotype-associated
VAR_052583 commonName VAR_052583
VAR_052583 disease not phenotype-associated
VAR_052584 commonName VAR_052584
VAR_052584 disease not phenotype-associated
VAR_052585 commonName VAR_052585
VAR_052585 disease not phenotype-associated
VAR_052586 commonName VAR_052586
VAR_052586 disease not phenotype-associated
VAR_052587 commonName VAR_052587
VAR_052587 disease not phenotype-associated
VAR_052588 commonName VAR_052588
VAR_052588 disease not phenotype-associated
VAR_052591 commonName VAR_052591
VAR_052591 disease not phenotype-associated
VAR_052592 commonName VAR_052592
VAR_052592 disease not phenotype-associated
VAR_052593 commonName VAR_052593
VAR_052593 disease not phenotype-associated
VAR_052594 commonName VAR_052594
VAR_052594 disease not phenotype-associated
VAR_052595 commonName VAR_052595
VAR_052595 disease not phenotype-associated
VAR_052596 commonName VAR_052596
VAR_052596 disease not phenotype-associated
VAR_052597 commonName VAR_052597
VAR_052597 disease not phenotype-associated
VAR_052598 commonName VAR_052598
VAR_052598 disease not phenotype-associated
VAR_052599 commonName VAR_052599
VAR_052599 disease not phenotype-associated
VAR_052600 commonName VAR_052600
VAR_052600 disease not phenotype-associated
VAR_052601 commonName VAR_052601
VAR_052601 disease not phenotype-associated
VAR_052602 commonName VAR_052602
VAR_052602 disease not phenotype-associated
VAR_052603 commonName VAR_052603
VAR_052603 disease not phenotype-associated
VAR_052604 commonName VAR_052604
VAR_052604 disease not phenotype-associated
VAR_052605 commonName VAR_052605
VAR_052605 disease not phenotype-associated
VAR_052607 commonName VAR_052607
VAR_052607 disease not phenotype-associated
VAR_052608 commonName VAR_052608
VAR_052608 disease not phenotype-associated
VAR_052609 commonName VAR_052609
VAR_052609 disease not phenotype-associated
VAR_052610 commonName VAR_052610
VAR_052610 disease not phenotype-associated
VAR_052611 commonName VAR_052611
VAR_052611 disease not phenotype-associated
VAR_052612 commonName VAR_052612
VAR_052612 disease not phenotype-associated
VAR_052613 commonName VAR_052613
VAR_052613 disease not phenotype-associated
VAR_052614 commonName VAR_052614
VAR_052614 disease not phenotype-associated
VAR_052615 commonName VAR_052615
VAR_052615 disease not phenotype-associated
VAR_052616 commonName VAR_052616
VAR_052616 disease not phenotype-associated
VAR_052617 commonName VAR_052617
VAR_052617 disease not phenotype-associated
VAR_052618 commonName VAR_052618
VAR_052618 disease not phenotype-associated
VAR_052619 commonName VAR_052619
VAR_052619 disease not phenotype-associated
VAR_052620 commonName VAR_052620
VAR_052620 disease not phenotype-associated
VAR_052621 commonName VAR_052621
VAR_052621 disease phenotype-associated
VAR_052621 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_052622 commonName VAR_052622
VAR_052622 disease not phenotype-associated
VAR_052623 commonName VAR_052623
VAR_052623 disease not phenotype-associated
VAR_052624 commonName VAR_052624
VAR_052624 disease not phenotype-associated
VAR_052625 commonName VAR_052625
VAR_052625 disease not phenotype-associated
VAR_052627 commonName VAR_052627
VAR_052627 disease not phenotype-associated
VAR_052628 commonName VAR_052628
VAR_052628 disease not phenotype-associated
VAR_052629 commonName VAR_052629
VAR_052629 disease not phenotype-associated
VAR_052630 commonName VAR_052630
VAR_052630 disease not phenotype-associated
VAR_052631 commonName VAR_052631
VAR_052631 disease not phenotype-associated
VAR_052632 commonName VAR_052632
VAR_052632 disease not phenotype-associated
VAR_052633 commonName VAR_052633
VAR_052633 disease not phenotype-associated
VAR_052634 commonName VAR_052634
VAR_052634 disease not phenotype-associated
VAR_052635 commonName VAR_052635
VAR_052635 disease not phenotype-associated
VAR_052636 commonName VAR_052636
VAR_052636 disease not phenotype-associated
VAR_052637 commonName VAR_052637
VAR_052637 disease not phenotype-associated
VAR_052638 commonName VAR_052638
VAR_052638 disease not phenotype-associated
VAR_052639 commonName VAR_052639
VAR_052639 disease not phenotype-associated
VAR_052640 commonName VAR_052640
VAR_052640 disease not phenotype-associated
VAR_052641 commonName VAR_052641
VAR_052641 disease not phenotype-associated
VAR_052642 commonName VAR_052642
VAR_052642 disease not phenotype-associated
VAR_052643 commonName VAR_052643
VAR_052643 disease not phenotype-associated
VAR_052644 commonName VAR_052644
VAR_052644 disease not phenotype-associated
VAR_052645 commonName VAR_052645
VAR_052645 disease not phenotype-associated
VAR_052646 commonName VAR_052646
VAR_052646 disease not phenotype-associated
VAR_052652 commonName VAR_052652
VAR_052652 disease not phenotype-associated
VAR_052653 commonName VAR_052653
VAR_052653 disease not phenotype-associated
VAR_052654 commonName VAR_052654
VAR_052654 disease not phenotype-associated
VAR_052655 commonName VAR_052655
VAR_052655 disease not phenotype-associated
VAR_052656 commonName VAR_052656
VAR_052656 disease not phenotype-associated
VAR_052657 commonName VAR_052657
VAR_052657 disease not phenotype-associated
VAR_052658 commonName VAR_052658
VAR_052658 disease not phenotype-associated
VAR_052659 commonName VAR_052659
VAR_052659 disease not phenotype-associated
VAR_052660 commonName VAR_052660
VAR_052660 disease not phenotype-associated
VAR_052661 commonName VAR_052661
VAR_052661 disease not phenotype-associated
VAR_052662 commonName VAR_052662
VAR_052662 disease not phenotype-associated
VAR_052664 commonName VAR_052664
VAR_052664 disease not phenotype-associated
VAR_052665 commonName VAR_052665
VAR_052665 disease not phenotype-associated
VAR_052666 commonName VAR_052666
VAR_052666 disease not phenotype-associated
VAR_052667 commonName VAR_052667
VAR_052667 disease not phenotype-associated
VAR_052668 commonName VAR_052668
VAR_052668 disease not phenotype-associated
VAR_052669 commonName VAR_052669
VAR_052669 disease not phenotype-associated
VAR_052670 commonName VAR_052670
VAR_052670 disease not phenotype-associated
VAR_052671 commonName VAR_052671
VAR_052671 disease not phenotype-associated
VAR_052672 commonName VAR_052672
VAR_052672 disease not phenotype-associated
VAR_052673 commonName VAR_052673
VAR_052673 disease not phenotype-associated
VAR_052674 commonName VAR_052674
VAR_052674 disease not phenotype-associated
VAR_052675 commonName VAR_052675
VAR_052675 disease not phenotype-associated
VAR_052676 commonName VAR_052676
VAR_052676 disease not phenotype-associated
VAR_052677 commonName VAR_052677
VAR_052677 disease not phenotype-associated
VAR_052678 commonName VAR_052678
VAR_052678 disease not phenotype-associated
VAR_052679 commonName VAR_052679
VAR_052679 disease not phenotype-associated
VAR_052680 commonName VAR_052680
VAR_052680 disease not phenotype-associated
VAR_052681 commonName VAR_052681
VAR_052681 disease not phenotype-associated
VAR_052682 commonName VAR_052682
VAR_052682 disease not phenotype-associated
VAR_052683 commonName VAR_052683
VAR_052683 disease not phenotype-associated
VAR_052684 commonName VAR_052684
VAR_052684 disease not phenotype-associated
VAR_052685 commonName VAR_052685
VAR_052685 disease not phenotype-associated
VAR_052687 commonName VAR_052687
VAR_052687 disease not phenotype-associated
VAR_052688 commonName VAR_052688
VAR_052688 disease not phenotype-associated
VAR_052691 commonName VAR_052691
VAR_052691 disease not phenotype-associated
VAR_052692 commonName VAR_052692
VAR_052692 disease not phenotype-associated
VAR_052694 commonName VAR_052694
VAR_052694 disease not phenotype-associated
VAR_052695 commonName VAR_052695
VAR_052695 disease not phenotype-associated
VAR_052696 commonName VAR_052696
VAR_052696 disease not phenotype-associated
VAR_052697 commonName VAR_052697
VAR_052697 disease not phenotype-associated
VAR_052698 commonName VAR_052698
VAR_052698 disease not phenotype-associated
VAR_052699 commonName VAR_052699
VAR_052699 disease not phenotype-associated
VAR_052700 commonName VAR_052700
VAR_052700 disease not phenotype-associated
VAR_052701 commonName VAR_052701
VAR_052701 disease not phenotype-associated
VAR_052702 commonName VAR_052702
VAR_052702 disease not phenotype-associated
VAR_052703 commonName VAR_052703
VAR_052703 disease not phenotype-associated
VAR_052704 commonName VAR_052704
VAR_052704 disease not phenotype-associated
VAR_052705 commonName VAR_052705
VAR_052705 disease not phenotype-associated
VAR_052706 commonName VAR_052706
VAR_052706 disease not phenotype-associated
VAR_052707 commonName VAR_052707
VAR_052707 disease not phenotype-associated
VAR_052708 commonName VAR_052708
VAR_052708 disease not phenotype-associated
VAR_052709 commonName VAR_052709
VAR_052709 disease not phenotype-associated
VAR_052710 commonName VAR_052710
VAR_052710 disease not phenotype-associated
VAR_052711 commonName VAR_052711
VAR_052711 disease not phenotype-associated
VAR_052712 commonName VAR_052712
VAR_052712 disease not phenotype-associated
VAR_052713 commonName VAR_052713
VAR_052713 disease not phenotype-associated
VAR_052714 commonName VAR_052714
VAR_052714 disease not phenotype-associated
VAR_052715 commonName VAR_052715
VAR_052715 disease not phenotype-associated
VAR_052716 commonName VAR_052716
VAR_052716 disease not phenotype-associated
VAR_052717 commonName VAR_052717
VAR_052717 disease not phenotype-associated
VAR_052718 commonName VAR_052718
VAR_052718 disease not phenotype-associated
VAR_052719 commonName VAR_052719
VAR_052719 disease not phenotype-associated
VAR_052720 commonName VAR_052720
VAR_052720 disease not phenotype-associated
VAR_052721 commonName VAR_052721
VAR_052721 disease not phenotype-associated
VAR_052722 commonName VAR_052722
VAR_052722 disease not phenotype-associated
VAR_052724 commonName VAR_052724
VAR_052724 disease not phenotype-associated
VAR_052725 commonName VAR_052725
VAR_052725 disease not phenotype-associated
VAR_052726 commonName VAR_052726
VAR_052726 disease not phenotype-associated
VAR_052727 commonName VAR_052727
VAR_052727 disease not phenotype-associated
VAR_052729 commonName VAR_052729
VAR_052729 disease not phenotype-associated
VAR_052730 commonName VAR_052730
VAR_052730 disease not phenotype-associated
VAR_052731 commonName VAR_052731
VAR_052731 disease not phenotype-associated
VAR_052732 commonName VAR_052732
VAR_052732 disease not phenotype-associated
VAR_052733 commonName VAR_052733
VAR_052733 disease not phenotype-associated
VAR_052734 commonName VAR_052734
VAR_052734 disease not phenotype-associated
VAR_052735 commonName VAR_052735
VAR_052735 disease not phenotype-associated
VAR_052736 commonName VAR_052736
VAR_052736 disease not phenotype-associated
VAR_052737 commonName VAR_052737
VAR_052737 disease not phenotype-associated
VAR_052738 commonName VAR_052738
VAR_052738 disease not phenotype-associated
VAR_052739 commonName VAR_052739
VAR_052739 disease not phenotype-associated
VAR_052740 commonName VAR_052740
VAR_052740 disease not phenotype-associated
VAR_052741 commonName VAR_052741
VAR_052741 disease not phenotype-associated
VAR_052742 commonName VAR_052742
VAR_052742 disease not phenotype-associated
VAR_052743 commonName VAR_052743
VAR_052743 disease not phenotype-associated
VAR_052744 commonName VAR_052744
VAR_052744 disease not phenotype-associated
VAR_052746 commonName VAR_052746
VAR_052746 disease not phenotype-associated
VAR_052747 commonName VAR_052747
VAR_052747 disease not phenotype-associated
VAR_052749 commonName VAR_052749
VAR_052749 disease not phenotype-associated
VAR_052750 commonName VAR_052750
VAR_052750 disease not phenotype-associated
VAR_052751 commonName VAR_052751
VAR_052751 disease not phenotype-associated
VAR_052752 commonName VAR_052752
VAR_052752 disease not phenotype-associated
VAR_052753 commonName VAR_052753
VAR_052753 disease not phenotype-associated
VAR_052754 commonName VAR_052754
VAR_052754 disease not phenotype-associated
VAR_052755 commonName VAR_052755
VAR_052755 disease not phenotype-associated
VAR_052756 commonName VAR_052756
VAR_052756 disease not phenotype-associated
VAR_052757 commonName VAR_052757
VAR_052757 disease not phenotype-associated
VAR_052758 commonName VAR_052758
VAR_052758 disease not phenotype-associated
VAR_052759 commonName VAR_052759
VAR_052759 disease not phenotype-associated
VAR_052760 commonName VAR_052760
VAR_052760 disease not phenotype-associated
VAR_052761 commonName VAR_052761
VAR_052761 disease not phenotype-associated
VAR_052762 commonName VAR_052762
VAR_052762 disease not phenotype-associated
VAR_052763 commonName VAR_052763
VAR_052763 disease not phenotype-associated
VAR_052764 commonName VAR_052764
VAR_052764 disease not phenotype-associated
VAR_052765 commonName VAR_052765
VAR_052765 disease not phenotype-associated
VAR_052766 commonName VAR_052766
VAR_052766 disease not phenotype-associated
VAR_052768 commonName VAR_052768
VAR_052768 disease not phenotype-associated
VAR_052769 commonName VAR_052769
VAR_052769 disease not phenotype-associated
VAR_052770 commonName VAR_052770
VAR_052770 disease not phenotype-associated
VAR_052771 commonName VAR_052771
VAR_052771 disease not phenotype-associated
VAR_052772 commonName VAR_052772
VAR_052772 disease not phenotype-associated
VAR_052773 commonName VAR_052773
VAR_052773 disease not phenotype-associated
VAR_052774 commonName VAR_052774
VAR_052774 disease not phenotype-associated
VAR_052779 commonName VAR_052779
VAR_052779 disease not phenotype-associated
VAR_052780 commonName VAR_052780
VAR_052780 disease not phenotype-associated
VAR_052781 commonName VAR_052781
VAR_052781 disease not phenotype-associated
VAR_052782 commonName VAR_052782
VAR_052782 disease not phenotype-associated
VAR_052783 commonName VAR_052783
VAR_052783 disease not phenotype-associated
VAR_052784 commonName VAR_052784
VAR_052784 disease not phenotype-associated
VAR_052785 commonName VAR_052785
VAR_052785 disease not phenotype-associated
VAR_052786 commonName VAR_052786
VAR_052786 disease not phenotype-associated
VAR_052787 commonName VAR_052787
VAR_052787 disease not phenotype-associated
VAR_052788 commonName VAR_052788
VAR_052788 disease not phenotype-associated
VAR_052789 commonName VAR_052789
VAR_052789 disease not phenotype-associated
VAR_052790 commonName VAR_052790
VAR_052790 disease not phenotype-associated
VAR_052794 commonName VAR_052794
VAR_052794 disease not phenotype-associated
VAR_052795 commonName VAR_052795
VAR_052795 disease not phenotype-associated
VAR_052796 commonName VAR_052796
VAR_052796 disease not phenotype-associated
VAR_052797 commonName VAR_052797
VAR_052797 disease not phenotype-associated
VAR_052798 commonName VAR_052798
VAR_052798 disease not phenotype-associated
VAR_052799 commonName VAR_052799
VAR_052799 disease not phenotype-associated
VAR_052800 commonName VAR_052800
VAR_052800 disease not phenotype-associated
VAR_052801 commonName VAR_052801
VAR_052801 disease not phenotype-associated
VAR_052802 commonName VAR_052802
VAR_052802 disease not phenotype-associated
VAR_052803 commonName VAR_052803
VAR_052803 disease not phenotype-associated
VAR_052804 commonName VAR_052804
VAR_052804 disease not phenotype-associated
VAR_052805 commonName VAR_052805
VAR_052805 disease not phenotype-associated
VAR_052807 commonName VAR_052807
VAR_052807 disease not phenotype-associated
VAR_052808 commonName VAR_052808
VAR_052808 disease not phenotype-associated
VAR_052809 commonName VAR_052809
VAR_052809 disease not phenotype-associated
VAR_052810 commonName VAR_052810
VAR_052810 disease not phenotype-associated
VAR_052811 commonName VAR_052811
VAR_052811 disease not phenotype-associated
VAR_052812 commonName VAR_052812
VAR_052812 disease not phenotype-associated
VAR_052813 commonName VAR_052813
VAR_052813 disease not phenotype-associated
VAR_052814 commonName VAR_052814
VAR_052814 disease not phenotype-associated
VAR_052815 commonName VAR_052815
VAR_052815 disease not phenotype-associated
VAR_052816 commonName VAR_052816
VAR_052816 disease not phenotype-associated
VAR_052817 commonName VAR_052817
VAR_052817 disease not phenotype-associated
VAR_052818 commonName VAR_052818
VAR_052818 disease not phenotype-associated
VAR_052819 commonName VAR_052819
VAR_052819 disease not phenotype-associated
VAR_052820 commonName VAR_052820
VAR_052820 disease not phenotype-associated
VAR_052821 commonName VAR_052821
VAR_052821 disease not phenotype-associated
VAR_052823 commonName VAR_052823
VAR_052823 disease not phenotype-associated
VAR_052824 commonName VAR_052824
VAR_052824 disease not phenotype-associated
VAR_052825 commonName VAR_052825
VAR_052825 disease not phenotype-associated
VAR_052826 commonName VAR_052826
VAR_052826 disease not phenotype-associated
VAR_052827 commonName VAR_052827
VAR_052827 disease not phenotype-associated
VAR_052828 commonName VAR_052828
VAR_052828 disease not phenotype-associated
VAR_052829 commonName VAR_052829
VAR_052829 disease not phenotype-associated
VAR_052830 commonName VAR_052830
VAR_052830 disease not phenotype-associated
VAR_052831 commonName VAR_052831
VAR_052831 disease not phenotype-associated
VAR_052832 commonName VAR_052832
VAR_052832 disease not phenotype-associated
VAR_052834 commonName VAR_052834
VAR_052834 disease not phenotype-associated
VAR_052835 commonName VAR_052835
VAR_052835 disease not phenotype-associated
VAR_052836 commonName VAR_052836
VAR_052836 disease not phenotype-associated
VAR_052837 commonName VAR_052837
VAR_052837 disease not phenotype-associated
VAR_052838 commonName VAR_052838
VAR_052838 disease not phenotype-associated
VAR_052839 commonName VAR_052839
VAR_052839 disease not phenotype-associated
VAR_052840 commonName VAR_052840
VAR_052840 disease not phenotype-associated
VAR_052841 commonName VAR_052841
VAR_052841 disease not phenotype-associated
VAR_052842 commonName VAR_052842
VAR_052842 disease not phenotype-associated
VAR_052843 commonName VAR_052843
VAR_052843 disease not phenotype-associated
VAR_052844 commonName VAR_052844
VAR_052844 disease not phenotype-associated
VAR_052845 commonName VAR_052845
VAR_052845 disease not phenotype-associated
VAR_052846 commonName VAR_052846
VAR_052846 disease not phenotype-associated
VAR_052847 commonName VAR_052847
VAR_052847 disease not phenotype-associated
VAR_052848 commonName VAR_052848
VAR_052848 disease not phenotype-associated
VAR_052849 commonName VAR_052849
VAR_052849 disease not phenotype-associated
VAR_052850 commonName VAR_052850
VAR_052850 disease not phenotype-associated
VAR_052851 commonName VAR_052851
VAR_052851 disease not phenotype-associated
VAR_052852 commonName VAR_052852
VAR_052852 disease not phenotype-associated
VAR_052853 commonName VAR_052853
VAR_052853 disease not phenotype-associated
VAR_052854 commonName VAR_052854
VAR_052854 disease not phenotype-associated
VAR_052855 commonName VAR_052855
VAR_052855 disease not phenotype-associated
VAR_052856 commonName VAR_052856
VAR_052856 disease not phenotype-associated
VAR_052857 commonName VAR_052857
VAR_052857 disease not phenotype-associated
VAR_052859 commonName VAR_052859
VAR_052859 disease not phenotype-associated
VAR_052861 commonName VAR_052861
VAR_052861 disease not phenotype-associated
VAR_052862 commonName VAR_052862
VAR_052862 disease not phenotype-associated
VAR_052863 commonName VAR_052863
VAR_052863 disease not phenotype-associated
VAR_052864 commonName VAR_052864
VAR_052864 disease not phenotype-associated
VAR_052865 commonName VAR_052865
VAR_052865 disease not phenotype-associated
VAR_052866 commonName VAR_052866
VAR_052866 disease not phenotype-associated
VAR_052867 commonName VAR_052867
VAR_052867 disease not phenotype-associated
VAR_052869 commonName VAR_052869
VAR_052869 disease not phenotype-associated
VAR_052870 commonName VAR_052870
VAR_052870 disease not phenotype-associated
VAR_052871 commonName VAR_052871
VAR_052871 disease not phenotype-associated
VAR_052872 commonName VAR_052872
VAR_052872 disease not phenotype-associated
VAR_052873 commonName VAR_052873
VAR_052873 disease not phenotype-associated
VAR_052874 commonName VAR_052874
VAR_052874 disease not phenotype-associated
VAR_052875 commonName VAR_052875
VAR_052875 disease not phenotype-associated
VAR_052876 commonName VAR_052876
VAR_052876 disease not phenotype-associated
VAR_052877 commonName VAR_052877
VAR_052877 disease not phenotype-associated
VAR_052878 commonName VAR_052878
VAR_052878 disease not phenotype-associated
VAR_052879 commonName VAR_052879
VAR_052879 disease not phenotype-associated
VAR_052880 commonName VAR_052880
VAR_052880 disease not phenotype-associated
VAR_052881 commonName VAR_052881
VAR_052881 disease not phenotype-associated
VAR_052882 commonName VAR_052882
VAR_052882 disease not phenotype-associated
VAR_052883 commonName VAR_052883
VAR_052883 disease not phenotype-associated
VAR_052884 commonName VAR_052884
VAR_052884 disease not phenotype-associated
VAR_052885 commonName VAR_052885
VAR_052885 disease not phenotype-associated
VAR_052886 commonName VAR_052886
VAR_052886 disease not phenotype-associated
VAR_052887 commonName VAR_052887
VAR_052887 disease not phenotype-associated
VAR_052888 commonName VAR_052888
VAR_052888 disease not phenotype-associated
VAR_052889 commonName VAR_052889
VAR_052889 disease not phenotype-associated
VAR_052890 commonName VAR_052890
VAR_052890 disease not phenotype-associated
VAR_052891 commonName VAR_052891
VAR_052891 disease not phenotype-associated
VAR_052892 commonName VAR_052892
VAR_052892 disease not phenotype-associated
VAR_052894 commonName VAR_052894
VAR_052894 disease not phenotype-associated
VAR_052895 commonName VAR_052895
VAR_052895 disease not phenotype-associated
VAR_052896 commonName VAR_052896
VAR_052896 disease not phenotype-associated
VAR_052897 commonName VAR_052897
VAR_052897 disease not phenotype-associated
VAR_052898 commonName VAR_052898
VAR_052898 disease not phenotype-associated
VAR_052899 commonName VAR_052899
VAR_052899 disease not phenotype-associated
VAR_052900 commonName VAR_052900
VAR_052900 disease not phenotype-associated
VAR_052901 commonName VAR_052901
VAR_052901 disease not phenotype-associated
VAR_052902 commonName VAR_052902
VAR_052902 disease not phenotype-associated
VAR_052903 commonName VAR_052903
VAR_052903 disease not phenotype-associated
VAR_052904 commonName VAR_052904
VAR_052904 disease not phenotype-associated
VAR_052905 commonName VAR_052905
VAR_052905 disease not phenotype-associated
VAR_052906 commonName VAR_052906
VAR_052906 disease not phenotype-associated
VAR_052907 commonName VAR_052907
VAR_052907 disease not phenotype-associated
VAR_052908 commonName VAR_052908
VAR_052908 disease not phenotype-associated
VAR_052909 commonName VAR_052909
VAR_052909 disease not phenotype-associated
VAR_052910 commonName VAR_052910
VAR_052910 disease not phenotype-associated
VAR_052913 commonName VAR_052913
VAR_052913 disease not phenotype-associated
VAR_052914 commonName VAR_052914
VAR_052914 disease not phenotype-associated
VAR_052915 commonName VAR_052915
VAR_052915 disease not phenotype-associated
VAR_052916 commonName VAR_052916
VAR_052916 disease not phenotype-associated
VAR_052917 commonName VAR_052917
VAR_052917 disease not phenotype-associated
VAR_052918 commonName VAR_052918
VAR_052918 disease not phenotype-associated
VAR_052919 commonName VAR_052919
VAR_052919 disease not phenotype-associated
VAR_052920 commonName VAR_052920
VAR_052920 disease not phenotype-associated
VAR_052921 commonName VAR_052921
VAR_052921 disease not phenotype-associated
VAR_052922 commonName VAR_052922
VAR_052922 disease not phenotype-associated
VAR_052923 commonName VAR_052923
VAR_052923 disease not phenotype-associated
VAR_052924 commonName VAR_052924
VAR_052924 disease not phenotype-associated
VAR_052925 commonName VAR_052925
VAR_052925 disease not phenotype-associated
VAR_052926 commonName VAR_052926
VAR_052926 disease not phenotype-associated
VAR_052929 commonName VAR_052929
VAR_052929 disease not phenotype-associated
VAR_052930 commonName VAR_052930
VAR_052930 disease not phenotype-associated
VAR_052931 commonName VAR_052931
VAR_052931 disease not phenotype-associated
VAR_052932 commonName VAR_052932
VAR_052932 disease not phenotype-associated
VAR_052933 commonName VAR_052933
VAR_052933 disease not phenotype-associated
VAR_052934 commonName VAR_052934
VAR_052934 disease not phenotype-associated
VAR_052935 commonName VAR_052935
VAR_052935 disease not phenotype-associated
VAR_052936 commonName VAR_052936
VAR_052936 disease not phenotype-associated
VAR_052937 commonName VAR_052937
VAR_052937 disease not phenotype-associated
VAR_052938 commonName VAR_052938
VAR_052938 disease not phenotype-associated
VAR_052939 commonName VAR_052939
VAR_052939 disease not phenotype-associated
VAR_052940 commonName VAR_052940
VAR_052940 disease not phenotype-associated
VAR_052941 commonName VAR_052941
VAR_052941 disease not phenotype-associated
VAR_052942 commonName VAR_052942
VAR_052942 disease not phenotype-associated
VAR_052943 commonName VAR_052943
VAR_052943 disease not phenotype-associated
VAR_052944 commonName VAR_052944
VAR_052944 disease not phenotype-associated
VAR_052945 commonName VAR_052945
VAR_052945 disease not phenotype-associated
VAR_052946 commonName VAR_052946
VAR_052946 disease not phenotype-associated
VAR_052947 commonName VAR_052947
VAR_052947 disease not phenotype-associated
VAR_052948 commonName VAR_052948
VAR_052948 disease not phenotype-associated
VAR_052949 commonName VAR_052949
VAR_052949 disease not phenotype-associated
VAR_052950 commonName VAR_052950
VAR_052950 disease not phenotype-associated
VAR_052951 commonName VAR_052951
VAR_052951 disease not phenotype-associated
VAR_052952 commonName VAR_052952
VAR_052952 disease not phenotype-associated
VAR_052953 commonName VAR_052953
VAR_052953 disease not phenotype-associated
VAR_052954 commonName VAR_052954
VAR_052954 disease not phenotype-associated
VAR_052955 commonName VAR_052955
VAR_052955 disease not phenotype-associated
VAR_052956 commonName VAR_052956
VAR_052956 disease not phenotype-associated
VAR_052957 commonName VAR_052957
VAR_052957 disease not phenotype-associated
VAR_052958 commonName VAR_052958
VAR_052958 disease not phenotype-associated
VAR_052959 commonName VAR_052959
VAR_052959 disease not phenotype-associated
VAR_052961 commonName VAR_052961
VAR_052961 disease not phenotype-associated
VAR_052962 commonName VAR_052962
VAR_052962 disease not phenotype-associated
VAR_052964 commonName VAR_052964
VAR_052964 disease not phenotype-associated
VAR_052965 commonName VAR_052965
VAR_052965 disease not phenotype-associated
VAR_052966 commonName VAR_052966
VAR_052966 disease not phenotype-associated
VAR_052967 commonName VAR_052967
VAR_052967 disease not phenotype-associated
VAR_052968 commonName VAR_052968
VAR_052968 disease not phenotype-associated
VAR_052969 commonName VAR_052969
VAR_052969 disease not phenotype-associated
VAR_052970 commonName VAR_052970
VAR_052970 disease not phenotype-associated
VAR_052972 commonName VAR_052972
VAR_052972 disease not phenotype-associated
VAR_052973 commonName VAR_052973
VAR_052973 disease not phenotype-associated
VAR_052974 commonName VAR_052974
VAR_052974 disease not phenotype-associated
VAR_052975 commonName VAR_052975
VAR_052975 disease not phenotype-associated
VAR_052978 commonName VAR_052978
VAR_052978 disease not phenotype-associated
VAR_052979 commonName VAR_052979
VAR_052979 disease not phenotype-associated
VAR_052980 commonName VAR_052980
VAR_052980 disease not phenotype-associated
VAR_052981 commonName VAR_052981
VAR_052981 disease not phenotype-associated
VAR_052982 commonName VAR_052982
VAR_052982 disease not phenotype-associated
VAR_052983 commonName VAR_052983
VAR_052983 disease not phenotype-associated
VAR_052984 commonName VAR_052984
VAR_052984 disease not phenotype-associated
VAR_052985 commonName VAR_052985
VAR_052985 disease not phenotype-associated
VAR_052986 commonName VAR_052986
VAR_052986 disease not phenotype-associated
VAR_052987 commonName VAR_052987
VAR_052987 disease not phenotype-associated
VAR_052988 commonName VAR_052988
VAR_052988 disease not phenotype-associated
VAR_052989 commonName VAR_052989
VAR_052989 disease not phenotype-associated
VAR_052990 commonName VAR_052990
VAR_052990 disease not phenotype-associated
VAR_052992 commonName VAR_052992
VAR_052992 disease not phenotype-associated
VAR_052994 commonName VAR_052994
VAR_052994 disease not phenotype-associated
VAR_052995 commonName VAR_052995
VAR_052995 disease not phenotype-associated
VAR_052996 commonName VAR_052996
VAR_052996 disease not phenotype-associated
VAR_052997 commonName VAR_052997
VAR_052997 disease not phenotype-associated
VAR_052998 commonName VAR_052998
VAR_052998 disease not phenotype-associated
VAR_052999 commonName VAR_052999
VAR_052999 disease not phenotype-associated
VAR_053000 commonName VAR_053000
VAR_053000 disease not phenotype-associated
VAR_053001 commonName VAR_053001
VAR_053001 disease not phenotype-associated
VAR_053003 commonName VAR_053003
VAR_053003 disease not phenotype-associated
VAR_053004 commonName VAR_053004
VAR_053004 disease not phenotype-associated
VAR_053005 commonName VAR_053005
VAR_053005 disease not phenotype-associated
VAR_053006 commonName VAR_053006
VAR_053006 disease not phenotype-associated
VAR_053007 commonName VAR_053007
VAR_053007 disease not phenotype-associated
VAR_053008 commonName VAR_053008
VAR_053008 disease not phenotype-associated
VAR_053009 commonName VAR_053009
VAR_053009 disease not phenotype-associated
VAR_053010 commonName VAR_053010
VAR_053010 disease not phenotype-associated
VAR_053012 commonName VAR_053012
VAR_053012 disease not phenotype-associated
VAR_053013 commonName VAR_053013
VAR_053013 disease not phenotype-associated
VAR_053014 commonName VAR_053014
VAR_053014 disease not phenotype-associated
VAR_053015 commonName VAR_053015
VAR_053015 disease not phenotype-associated
VAR_053016 commonName VAR_053016
VAR_053016 disease not phenotype-associated
VAR_053017 commonName VAR_053017
VAR_053017 disease not phenotype-associated
VAR_053018 commonName VAR_053018
VAR_053018 disease not phenotype-associated
VAR_053019 commonName VAR_053019
VAR_053019 disease not phenotype-associated
VAR_053020 commonName VAR_053020
VAR_053020 disease not phenotype-associated
VAR_053021 commonName VAR_053021
VAR_053021 disease not phenotype-associated
VAR_053022 commonName VAR_053022
VAR_053022 disease not phenotype-associated
VAR_053023 commonName VAR_053023
VAR_053023 disease not phenotype-associated
VAR_053024 commonName VAR_053024
VAR_053024 disease not phenotype-associated
VAR_053025 commonName VAR_053025
VAR_053025 disease not phenotype-associated
VAR_053026 commonName VAR_053026
VAR_053026 disease not phenotype-associated
VAR_053027 commonName VAR_053027
VAR_053027 disease not phenotype-associated
VAR_053028 comment Melanoma
VAR_053028 commonName VAR_053028
VAR_053029 commonName VAR_053029
VAR_053029 disease not phenotype-associated
VAR_053030 commonName VAR_053030
VAR_053030 disease not phenotype-associated
VAR_053031 commonName VAR_053031
VAR_053031 disease not phenotype-associated
VAR_053032 commonName VAR_053032
VAR_053032 disease not phenotype-associated
VAR_053033 commonName VAR_053033
VAR_053033 disease not phenotype-associated
VAR_053034 commonName VAR_053034
VAR_053034 disease not phenotype-associated
VAR_053035 commonName VAR_053035
VAR_053035 disease not phenotype-associated
VAR_053036 commonName VAR_053036
VAR_053036 disease not phenotype-associated
VAR_053037 commonName VAR_053037
VAR_053037 disease not phenotype-associated
VAR_053038 commonName VAR_053038
VAR_053038 disease not phenotype-associated
VAR_053039 commonName VAR_053039
VAR_053039 disease not phenotype-associated
VAR_053040 commonName VAR_053040
VAR_053040 disease not phenotype-associated
VAR_053041 commonName VAR_053041
VAR_053041 disease not phenotype-associated
VAR_053043 commonName VAR_053043
VAR_053043 disease not phenotype-associated
VAR_053044 commonName VAR_053044
VAR_053044 disease not phenotype-associated
VAR_053045 commonName VAR_053045
VAR_053045 disease not phenotype-associated
VAR_053046 commonName VAR_053046
VAR_053046 disease not phenotype-associated
VAR_053047 commonName VAR_053047
VAR_053047 disease not phenotype-associated
VAR_053048 commonName VAR_053048
VAR_053048 disease not phenotype-associated
VAR_053049 commonName VAR_053049
VAR_053049 disease not phenotype-associated
VAR_053051 commonName VAR_053051
VAR_053051 disease not phenotype-associated
VAR_053052 commonName VAR_053052
VAR_053052 disease not phenotype-associated
VAR_053053 commonName VAR_053053
VAR_053053 disease not phenotype-associated
VAR_053054 commonName VAR_053054
VAR_053054 disease not phenotype-associated
VAR_053055 commonName VAR_053055
VAR_053055 disease not phenotype-associated
VAR_053056 commonName VAR_053056
VAR_053056 disease not phenotype-associated
VAR_053057 commonName VAR_053057
VAR_053057 disease not phenotype-associated
VAR_053058 commonName VAR_053058
VAR_053058 disease not phenotype-associated
VAR_053061 commonName VAR_053061
VAR_053061 disease not phenotype-associated
VAR_053062 commonName VAR_053062
VAR_053062 disease not phenotype-associated
VAR_053063 commonName VAR_053063
VAR_053063 disease not phenotype-associated
VAR_053064 commonName VAR_053064
VAR_053064 disease not phenotype-associated
VAR_053065 commonName VAR_053065
VAR_053065 disease not phenotype-associated
VAR_053069 commonName VAR_053069
VAR_053069 disease not phenotype-associated
VAR_053070 commonName VAR_053070
VAR_053070 disease not phenotype-associated
VAR_053071 commonName VAR_053071
VAR_053071 disease not phenotype-associated
VAR_053072 commonName VAR_053072
VAR_053072 disease not phenotype-associated
VAR_053073 commonName VAR_053073
VAR_053073 disease not phenotype-associated
VAR_053074 commonName VAR_053074
VAR_053074 disease not phenotype-associated
VAR_053075 commonName VAR_053075
VAR_053075 disease not phenotype-associated
VAR_053078 commonName VAR_053078
VAR_053078 disease not phenotype-associated
VAR_053079 commonName VAR_053079
VAR_053079 disease not phenotype-associated
VAR_053082 commonName VAR_053082
VAR_053082 disease not phenotype-associated
VAR_053084 commonName VAR_053084
VAR_053084 disease not phenotype-associated
VAR_053085 commonName VAR_053085
VAR_053085 disease not phenotype-associated
VAR_053086 commonName VAR_053086
VAR_053086 disease not phenotype-associated
VAR_053087 commonName VAR_053087
VAR_053087 disease not phenotype-associated
VAR_053088 commonName VAR_053088
VAR_053088 disease not phenotype-associated
VAR_053089 commonName VAR_053089
VAR_053089 disease not phenotype-associated
VAR_053090 commonName VAR_053090
VAR_053090 disease not phenotype-associated
VAR_053091 commonName VAR_053091
VAR_053091 disease not phenotype-associated
VAR_053092 commonName VAR_053092
VAR_053092 disease not phenotype-associated
VAR_053093 commonName VAR_053093
VAR_053093 disease not phenotype-associated
VAR_053094 commonName VAR_053094
VAR_053094 disease not phenotype-associated
VAR_053095 commonName VAR_053095
VAR_053095 disease not phenotype-associated
VAR_053096 commonName VAR_053096
VAR_053096 disease not phenotype-associated
VAR_053097 commonName VAR_053097
VAR_053097 disease not phenotype-associated
VAR_053098 commonName VAR_053098
VAR_053098 disease not phenotype-associated
VAR_053099 commonName VAR_053099
VAR_053099 disease not phenotype-associated
VAR_053100 commonName VAR_053100
VAR_053100 disease not phenotype-associated
VAR_053101 commonName VAR_053101
VAR_053101 disease not phenotype-associated
VAR_053102 commonName VAR_053102
VAR_053102 disease not phenotype-associated
VAR_053103 commonName VAR_053103
VAR_053103 disease not phenotype-associated
VAR_053104 commonName VAR_053104
VAR_053104 disease not phenotype-associated
VAR_053105 commonName VAR_053105
VAR_053105 disease not phenotype-associated
VAR_053106 commonName VAR_053106
VAR_053106 disease not phenotype-associated
VAR_053107 commonName VAR_053107
VAR_053107 disease not phenotype-associated
VAR_053108 commonName VAR_053108
VAR_053108 disease not phenotype-associated
VAR_053109 commonName VAR_053109
VAR_053109 disease not phenotype-associated
VAR_053110 commonName VAR_053110
VAR_053110 disease not phenotype-associated
VAR_053111 commonName VAR_053111
VAR_053111 disease not phenotype-associated
VAR_053112 commonName VAR_053112
VAR_053112 disease not phenotype-associated
VAR_053114 commonName VAR_053114
VAR_053114 disease not phenotype-associated
VAR_053115 commonName VAR_053115
VAR_053115 disease not phenotype-associated
VAR_053116 commonName VAR_053116
VAR_053116 disease not phenotype-associated
VAR_053117 commonName VAR_053117
VAR_053117 disease not phenotype-associated
VAR_053118 commonName VAR_053118
VAR_053118 disease not phenotype-associated
VAR_053119 commonName VAR_053119
VAR_053119 disease not phenotype-associated
VAR_053120 commonName VAR_053120
VAR_053120 disease not phenotype-associated
VAR_053121 commonName VAR_053121
VAR_053121 disease not phenotype-associated
VAR_053122 commonName VAR_053122
VAR_053122 disease not phenotype-associated
VAR_053123 commonName VAR_053123
VAR_053123 disease not phenotype-associated
VAR_053124 commonName VAR_053124
HbVar.684 ethnic African
VAR_053124 disease not phenotype-associated
VAR_053125 commonName VAR_053125
VAR_053125 disease not phenotype-associated
VAR_053126 commonName VAR_053126
VAR_053126 disease not phenotype-associated
VAR_053127 commonName VAR_053127
VAR_053127 disease not phenotype-associated
VAR_053128 commonName VAR_053128
VAR_053128 disease not phenotype-associated
VAR_053129 commonName VAR_053129
VAR_053129 disease not phenotype-associated
VAR_053130 commonName VAR_053130
VAR_053130 disease not phenotype-associated
VAR_053131 commonName VAR_053131
VAR_053131 disease not phenotype-associated
VAR_053132 commonName VAR_053132
VAR_053132 disease not phenotype-associated
VAR_053133 commonName VAR_053133
VAR_053133 disease not phenotype-associated
VAR_053134 commonName VAR_053134
VAR_053134 disease not phenotype-associated
VAR_053135 commonName VAR_053135
VAR_053135 disease not phenotype-associated
VAR_053136 commonName VAR_053136
VAR_053136 disease not phenotype-associated
VAR_053137 commonName VAR_053137
VAR_053137 disease not phenotype-associated
VAR_053138 commonName VAR_053138
VAR_053138 disease not phenotype-associated
VAR_053139 commonName VAR_053139
VAR_053139 disease not phenotype-associated
VAR_053140 commonName VAR_053140
VAR_053140 disease not phenotype-associated
VAR_053141 commonName VAR_053141
VAR_053141 disease not phenotype-associated
VAR_053142 commonName VAR_053142
VAR_053142 disease not phenotype-associated
VAR_053144 commonName VAR_053144
VAR_053144 disease not phenotype-associated
VAR_053145 commonName VAR_053145
VAR_053145 disease not phenotype-associated
VAR_053146 commonName VAR_053146
VAR_053146 disease not phenotype-associated
VAR_053147 commonName VAR_053147
VAR_053147 disease not phenotype-associated
VAR_053148 commonName VAR_053148
VAR_053148 disease not phenotype-associated
VAR_053149 commonName VAR_053149
VAR_053149 disease not phenotype-associated
VAR_053150 commonName VAR_053150
VAR_053150 disease not phenotype-associated
VAR_053151 commonName VAR_053151
VAR_053151 disease not phenotype-associated
VAR_053152 commonName VAR_053152
VAR_053152 disease not phenotype-associated
VAR_053153 commonName VAR_053153
VAR_053153 disease not phenotype-associated
VAR_053154 commonName VAR_053154
VAR_053154 disease not phenotype-associated
VAR_053155 commonName VAR_053155
VAR_053155 disease not phenotype-associated
VAR_053156 commonName VAR_053156
VAR_053156 disease not phenotype-associated
VAR_053157 commonName VAR_053157
VAR_053157 disease not phenotype-associated
VAR_053158 commonName VAR_053158
VAR_053158 disease not phenotype-associated
VAR_053159 commonName VAR_053159
VAR_053159 disease not phenotype-associated
VAR_053160 commonName VAR_053160
VAR_053160 disease not phenotype-associated
VAR_053161 commonName VAR_053161
VAR_053161 disease not phenotype-associated
VAR_053162 commonName VAR_053162
VAR_053162 disease not phenotype-associated
VAR_053163 commonName VAR_053163
VAR_053163 disease not phenotype-associated
VAR_053164 commonName VAR_053164
VAR_053164 disease not phenotype-associated
VAR_053165 commonName VAR_053165
VAR_053165 disease not phenotype-associated
VAR_053166 commonName VAR_053166
VAR_053166 disease not phenotype-associated
VAR_053167 commonName VAR_053167
VAR_053167 disease not phenotype-associated
VAR_053168 commonName VAR_053168
VAR_053168 disease not phenotype-associated
VAR_053169 commonName VAR_053169
VAR_053169 disease not phenotype-associated
VAR_053170 commonName VAR_053170
VAR_053170 disease not phenotype-associated
VAR_053171 commonName VAR_053171
VAR_053171 disease not phenotype-associated
VAR_053172 commonName VAR_053172
VAR_053172 disease not phenotype-associated
VAR_053173 commonName VAR_053173
VAR_053173 disease not phenotype-associated
VAR_053174 commonName VAR_053174
VAR_053174 disease not phenotype-associated
VAR_053175 commonName VAR_053175
VAR_053175 disease not phenotype-associated
VAR_053176 commonName VAR_053176
VAR_053176 disease not phenotype-associated
VAR_053177 commonName VAR_053177
VAR_053177 disease not phenotype-associated
VAR_053178 commonName VAR_053178
VAR_053178 disease not phenotype-associated
VAR_053179 commonName VAR_053179
VAR_053179 disease not phenotype-associated
VAR_053180 commonName VAR_053180
VAR_053180 disease not phenotype-associated
VAR_053181 commonName VAR_053181
VAR_053181 disease not phenotype-associated
VAR_053182 commonName VAR_053182
VAR_053182 disease not phenotype-associated
VAR_053183 commonName VAR_053183
VAR_053183 disease not phenotype-associated
VAR_053184 commonName VAR_053184
VAR_053184 disease not phenotype-associated
VAR_053185 commonName VAR_053185
VAR_053185 disease not phenotype-associated
VAR_053186 commonName VAR_053186
VAR_053186 disease not phenotype-associated
VAR_053187 commonName VAR_053187
VAR_053187 disease not phenotype-associated
VAR_053188 commonName VAR_053188
VAR_053188 disease not phenotype-associated
VAR_053189 commonName VAR_053189
VAR_053189 disease not phenotype-associated
VAR_053190 commonName VAR_053190
VAR_053190 disease not phenotype-associated
VAR_053191 commonName VAR_053191
VAR_053191 disease not phenotype-associated
VAR_053192 commonName VAR_053192
VAR_053192 disease not phenotype-associated
VAR_053193 commonName VAR_053193
VAR_053193 disease not phenotype-associated
VAR_053194 commonName VAR_053194
VAR_053194 disease not phenotype-associated
VAR_053195 commonName VAR_053195
VAR_053195 disease not phenotype-associated
VAR_053196 commonName VAR_053196
VAR_053196 disease not phenotype-associated
VAR_053197 commonName VAR_053197
VAR_053197 disease not phenotype-associated
VAR_053198 commonName VAR_053198
VAR_053198 disease not phenotype-associated
VAR_053199 commonName VAR_053199
VAR_053199 disease not phenotype-associated
VAR_053200 commonName VAR_053200
VAR_053200 disease not phenotype-associated
VAR_053201 commonName VAR_053201
VAR_053201 disease not phenotype-associated
VAR_053202 commonName VAR_053202
VAR_053202 disease not phenotype-associated
VAR_053203 commonName VAR_053203
VAR_053203 disease not phenotype-associated
VAR_053204 commonName VAR_053204
VAR_053204 disease not phenotype-associated
VAR_053205 commonName VAR_053205
VAR_053205 disease not phenotype-associated
VAR_053206 commonName VAR_053206
VAR_053206 disease not phenotype-associated
VAR_053207 commonName VAR_053207
VAR_053207 disease not phenotype-associated
VAR_053208 commonName VAR_053208
VAR_053208 disease not phenotype-associated
VAR_053209 commonName VAR_053209
VAR_053209 disease not phenotype-associated
VAR_053210 commonName VAR_053210
VAR_053210 disease not phenotype-associated
VAR_053213 commonName VAR_053213
VAR_053213 disease not phenotype-associated
VAR_053214 commonName VAR_053214
VAR_053214 disease not phenotype-associated
VAR_053215 commonName VAR_053215
VAR_053215 disease not phenotype-associated
VAR_053216 commonName VAR_053216
VAR_053216 disease not phenotype-associated
VAR_053217 commonName VAR_053217
VAR_053217 disease not phenotype-associated
VAR_053218 commonName VAR_053218
VAR_053218 disease not phenotype-associated
VAR_053219 commonName VAR_053219
VAR_053219 disease not phenotype-associated
VAR_053220 commonName VAR_053220
VAR_053220 disease not phenotype-associated
VAR_053221 commonName VAR_053221
VAR_053221 disease not phenotype-associated
VAR_053222 commonName VAR_053222
VAR_053222 disease not phenotype-associated
VAR_053223 commonName VAR_053223
VAR_053223 disease not phenotype-associated
VAR_053224 commonName VAR_053224
VAR_053224 disease not phenotype-associated
VAR_053225 commonName VAR_053225
VAR_053225 disease not phenotype-associated
VAR_053226 commonName VAR_053226
VAR_053226 disease not phenotype-associated
VAR_053227 commonName VAR_053227
VAR_053227 disease not phenotype-associated
VAR_053228 commonName VAR_053228
VAR_053228 disease not phenotype-associated
VAR_053229 commonName VAR_053229
VAR_053229 disease not phenotype-associated
VAR_053230 commonName VAR_053230
VAR_053230 disease not phenotype-associated
VAR_053231 commonName VAR_053231
VAR_053231 disease not phenotype-associated
VAR_053232 commonName VAR_053232
VAR_053232 disease not phenotype-associated
VAR_053233 commonName VAR_053233
VAR_053233 disease not phenotype-associated
VAR_053234 commonName VAR_053234
VAR_053234 disease not phenotype-associated
VAR_053235 commonName VAR_053235
VAR_053235 disease not phenotype-associated
VAR_053236 commonName VAR_053236
VAR_053236 disease not phenotype-associated
VAR_053237 commonName VAR_053237
VAR_053237 disease not phenotype-associated
VAR_053238 commonName VAR_053238
VAR_053238 disease not phenotype-associated
VAR_053239 commonName VAR_053239
VAR_053239 disease not phenotype-associated
VAR_053240 commonName VAR_053240
VAR_053240 disease not phenotype-associated
VAR_053241 commonName VAR_053241
VAR_053241 disease not phenotype-associated
VAR_053242 commonName VAR_053242
VAR_053242 disease not phenotype-associated
VAR_053243 commonName VAR_053243
VAR_053243 disease not phenotype-associated
VAR_053244 commonName VAR_053244
VAR_053244 disease not phenotype-associated
VAR_053245 commonName VAR_053245
VAR_053245 disease not phenotype-associated
VAR_053246 commonName VAR_053246
VAR_053246 disease not phenotype-associated
VAR_053253 commonName VAR_053253
VAR_053253 disease not phenotype-associated
VAR_053257 commonName VAR_053257
VAR_053257 disease not phenotype-associated
VAR_053258 commonName VAR_053258
VAR_053258 disease not phenotype-associated
VAR_053259 commonName VAR_053259
VAR_053259 disease not phenotype-associated
VAR_053260 commonName VAR_053260
VAR_053260 disease not phenotype-associated
VAR_053261 commonName VAR_053261
VAR_053261 disease not phenotype-associated
VAR_053262 commonName VAR_053262
VAR_053262 disease not phenotype-associated
VAR_053263 commonName VAR_053263
VAR_053263 disease not phenotype-associated
VAR_053264 commonName VAR_053264
VAR_053264 disease not phenotype-associated
VAR_053265 commonName VAR_053265
VAR_053265 disease not phenotype-associated
VAR_053266 commonName VAR_053266
VAR_053266 disease not phenotype-associated
VAR_053267 commonName VAR_053267
VAR_053267 disease not phenotype-associated
VAR_053268 commonName VAR_053268
VAR_053268 disease not phenotype-associated
VAR_053269 commonName VAR_053269
VAR_053269 disease not phenotype-associated
VAR_053270 commonName VAR_053270
VAR_053270 disease not phenotype-associated
VAR_053271 commonName VAR_053271
VAR_053271 disease not phenotype-associated
VAR_053272 commonName VAR_053272
VAR_053272 disease not phenotype-associated
VAR_053273 commonName VAR_053273
VAR_053273 disease not phenotype-associated
VAR_053274 commonName VAR_053274
VAR_053274 disease not phenotype-associated
VAR_053275 commonName VAR_053275
VAR_053275 disease not phenotype-associated
VAR_053276 commonName VAR_053276
VAR_053276 disease not phenotype-associated
VAR_053277 commonName VAR_053277
VAR_053277 disease not phenotype-associated
VAR_053278 commonName VAR_053278
VAR_053278 disease not phenotype-associated
VAR_053279 commonName VAR_053279
VAR_053279 disease not phenotype-associated
VAR_053280 commonName VAR_053280
VAR_053280 disease not phenotype-associated
VAR_053281 commonName VAR_053281
VAR_053281 disease not phenotype-associated
VAR_053282 commonName VAR_053282
VAR_053282 disease not phenotype-associated
VAR_053283 commonName VAR_053283
VAR_053283 disease not phenotype-associated
VAR_053284 commonName VAR_053284
VAR_053284 disease not phenotype-associated
VAR_053285 commonName VAR_053285
VAR_053285 disease not phenotype-associated
VAR_053286 commonName VAR_053286
VAR_053286 disease not phenotype-associated
VAR_053287 commonName VAR_053287
VAR_053287 disease not phenotype-associated
VAR_053288 commonName VAR_053288
VAR_053288 disease not phenotype-associated
VAR_053289 commonName VAR_053289
VAR_053289 disease not phenotype-associated
VAR_053290 commonName VAR_053290
VAR_053290 disease not phenotype-associated
VAR_053291 commonName VAR_053291
VAR_053291 disease not phenotype-associated
VAR_053292 commonName VAR_053292
VAR_053292 disease not phenotype-associated
VAR_053293 commonName VAR_053293
VAR_053293 disease not phenotype-associated
VAR_053295 commonName VAR_053295
VAR_053295 disease not phenotype-associated
VAR_053296 commonName VAR_053296
VAR_053296 disease not phenotype-associated
VAR_053297 commonName VAR_053297
VAR_053297 disease not phenotype-associated
VAR_053299 commonName VAR_053299
VAR_053299 disease not phenotype-associated
VAR_053300 commonName VAR_053300
VAR_053300 disease not phenotype-associated
VAR_053301 commonName VAR_053301
VAR_053301 disease not phenotype-associated
VAR_053302 commonName VAR_053302
VAR_053302 disease not phenotype-associated
VAR_053303 commonName VAR_053303
VAR_053303 disease not phenotype-associated
VAR_053304 commonName VAR_053304
VAR_053304 disease not phenotype-associated
VAR_053305 commonName VAR_053305
VAR_053305 disease not phenotype-associated
VAR_053306 commonName VAR_053306
VAR_053306 disease not phenotype-associated
VAR_053307 commonName VAR_053307
VAR_053307 disease not phenotype-associated
VAR_053308 commonName VAR_053308
VAR_053308 disease not phenotype-associated
VAR_053309 commonName VAR_053309
VAR_053309 disease not phenotype-associated
VAR_053310 commonName VAR_053310
VAR_053310 disease not phenotype-associated
VAR_053311 commonName VAR_053311
VAR_053311 disease not phenotype-associated
VAR_053312 commonName VAR_053312
VAR_053312 disease not phenotype-associated
VAR_053313 commonName VAR_053313
VAR_053313 disease not phenotype-associated
VAR_053314 commonName VAR_053314
VAR_053314 disease not phenotype-associated
VAR_053315 commonName VAR_053315
VAR_053315 disease not phenotype-associated
VAR_053316 commonName VAR_053316
VAR_053316 disease not phenotype-associated
VAR_053317 commonName VAR_053317
VAR_053317 disease not phenotype-associated
VAR_053318 commonName VAR_053318
VAR_053318 disease not phenotype-associated
VAR_053319 commonName VAR_053319
VAR_053319 disease not phenotype-associated
VAR_053320 commonName VAR_053320
VAR_053320 disease not phenotype-associated
VAR_053321 commonName VAR_053321
VAR_053321 disease not phenotype-associated
VAR_053322 commonName VAR_053322
VAR_053322 disease not phenotype-associated
VAR_053323 commonName VAR_053323
VAR_053323 disease not phenotype-associated
VAR_053324 commonName VAR_053324
VAR_053324 disease not phenotype-associated
VAR_053325 commonName VAR_053325
VAR_053325 disease not phenotype-associated
VAR_053326 commonName VAR_053326
VAR_053326 disease not phenotype-associated
VAR_053327 commonName VAR_053327
VAR_053327 disease not phenotype-associated
VAR_053328 commonName VAR_053328
VAR_053328 disease not phenotype-associated
VAR_053329 commonName VAR_053329
VAR_053329 disease not phenotype-associated
VAR_053330 commonName VAR_053330
VAR_053330 disease not phenotype-associated
VAR_053331 commonName VAR_053331
VAR_053331 disease not phenotype-associated
VAR_053332 commonName VAR_053332
VAR_053332 disease not phenotype-associated
VAR_053333 commonName VAR_053333
VAR_053333 disease not phenotype-associated
VAR_053334 commonName VAR_053334
VAR_053334 disease not phenotype-associated
VAR_053335 commonName VAR_053335
VAR_053335 disease not phenotype-associated
VAR_053336 commonName VAR_053336
VAR_053336 disease not phenotype-associated
VAR_053337 commonName VAR_053337
VAR_053337 disease not phenotype-associated
VAR_053338 commonName VAR_053338
VAR_053338 disease not phenotype-associated
VAR_053339 commonName VAR_053339
VAR_053339 disease not phenotype-associated
VAR_053340 commonName VAR_053340
VAR_053340 disease not phenotype-associated
VAR_053341 commonName VAR_053341
VAR_053341 disease not phenotype-associated
VAR_053342 commonName VAR_053342
VAR_053342 disease not phenotype-associated
VAR_053343 commonName VAR_053343
VAR_053343 disease not phenotype-associated
VAR_053344 commonName VAR_053344
VAR_053344 disease not phenotype-associated
VAR_053345 commonName VAR_053345
VAR_053345 disease not phenotype-associated
VAR_053346 commonName VAR_053346
VAR_053346 disease not phenotype-associated
VAR_053347 commonName VAR_053347
VAR_053347 disease not phenotype-associated
VAR_053348 commonName VAR_053348
VAR_053348 disease not phenotype-associated
VAR_053349 commonName VAR_053349
VAR_053349 disease not phenotype-associated
VAR_053350 commonName VAR_053350
VAR_053350 disease not phenotype-associated
VAR_053351 commonName VAR_053351
VAR_053351 disease not phenotype-associated
VAR_053352 commonName VAR_053352
VAR_053352 disease not phenotype-associated
VAR_053353 commonName VAR_053353
VAR_053353 disease not phenotype-associated
VAR_053354 commonName VAR_053354
VAR_053354 disease not phenotype-associated
VAR_053355 commonName VAR_053355
VAR_053355 disease not phenotype-associated
VAR_053356 commonName VAR_053356
VAR_053356 disease not phenotype-associated
VAR_053357 commonName VAR_053357
VAR_053357 disease not phenotype-associated
VAR_053358 commonName VAR_053358
VAR_053358 disease not phenotype-associated
VAR_053359 commonName VAR_053359
VAR_053359 disease not phenotype-associated
VAR_053360 commonName VAR_053360
VAR_053360 disease not phenotype-associated
VAR_053361 commonName VAR_053361
VAR_053361 disease not phenotype-associated
VAR_053362 commonName VAR_053362
VAR_053362 disease not phenotype-associated
VAR_053363 commonName VAR_053363
VAR_053363 disease not phenotype-associated
VAR_053364 commonName VAR_053364
VAR_053364 disease not phenotype-associated
VAR_053365 commonName VAR_053365
VAR_053365 disease not phenotype-associated
VAR_053366 commonName VAR_053366
VAR_053366 disease not phenotype-associated
VAR_053367 commonName VAR_053367
VAR_053367 disease not phenotype-associated
VAR_053368 commonName VAR_053368
VAR_053368 disease not phenotype-associated
VAR_053369 commonName VAR_053369
VAR_053369 disease not phenotype-associated
VAR_053370 commonName VAR_053370
VAR_053370 disease not phenotype-associated
VAR_053371 commonName VAR_053371
VAR_053371 disease not phenotype-associated
VAR_053372 commonName VAR_053372
VAR_053372 disease not phenotype-associated
VAR_053373 commonName VAR_053373
VAR_053373 disease not phenotype-associated
VAR_053374 commonName VAR_053374
VAR_053374 disease not phenotype-associated
VAR_053375 commonName VAR_053375
VAR_053375 disease not phenotype-associated
VAR_053376 commonName VAR_053376
VAR_053376 disease not phenotype-associated
VAR_053377 commonName VAR_053377
VAR_053377 disease not phenotype-associated
VAR_053378 commonName VAR_053378
VAR_053378 disease not phenotype-associated
VAR_053379 commonName VAR_053379
VAR_053379 disease not phenotype-associated
VAR_053380 commonName VAR_053380
VAR_053380 disease not phenotype-associated
VAR_053381 commonName VAR_053381
VAR_053381 disease not phenotype-associated
VAR_053382 commonName VAR_053382
VAR_053382 disease not phenotype-associated
VAR_053383 commonName VAR_053383
VAR_053383 disease not phenotype-associated
VAR_053384 commonName VAR_053384
VAR_053384 disease not phenotype-associated
VAR_053385 commonName VAR_053385
VAR_053385 disease not phenotype-associated
VAR_053386 commonName VAR_053386
VAR_053386 disease not phenotype-associated
VAR_053387 commonName VAR_053387
VAR_053387 disease not phenotype-associated
VAR_053388 commonName VAR_053388
VAR_053388 disease not phenotype-associated
VAR_053389 commonName VAR_053389
VAR_053389 disease not phenotype-associated
VAR_053390 commonName VAR_053390
VAR_053390 disease not phenotype-associated
VAR_053391 commonName VAR_053391
VAR_053391 disease not phenotype-associated
VAR_053392 commonName VAR_053392
VAR_053392 disease not phenotype-associated
VAR_053394 commonName VAR_053394
VAR_053394 disease not phenotype-associated
VAR_053395 commonName VAR_053395
VAR_053395 disease not phenotype-associated
VAR_053396 commonName VAR_053396
VAR_053396 disease not phenotype-associated
VAR_053397 commonName VAR_053397
VAR_053397 disease not phenotype-associated
VAR_053398 commonName VAR_053398
VAR_053398 disease not phenotype-associated
VAR_053399 commonName VAR_053399
VAR_053399 disease not phenotype-associated
VAR_053400 commonName VAR_053400
VAR_053400 disease not phenotype-associated
VAR_053401 commonName VAR_053401
VAR_053401 disease not phenotype-associated
VAR_053402 commonName VAR_053402
VAR_053402 disease not phenotype-associated
VAR_053403 commonName VAR_053403
VAR_053403 disease not phenotype-associated
VAR_053404 commonName VAR_053404
VAR_053404 disease not phenotype-associated
VAR_053405 commonName VAR_053405
VAR_053405 disease not phenotype-associated
VAR_053406 commonName VAR_053406
VAR_053406 disease not phenotype-associated
VAR_053407 commonName VAR_053407
VAR_053407 disease not phenotype-associated
VAR_053408 commonName VAR_053408
VAR_053408 disease not phenotype-associated
VAR_053409 commonName VAR_053409
VAR_053409 disease not phenotype-associated
VAR_053410 commonName VAR_053410
VAR_053410 disease not phenotype-associated
VAR_053411 commonName VAR_053411
VAR_053411 disease not phenotype-associated
VAR_053412 commonName VAR_053412
VAR_053412 disease not phenotype-associated
VAR_053413 commonName VAR_053413
VAR_053413 disease not phenotype-associated
VAR_053414 commonName VAR_053414
VAR_053414 disease not phenotype-associated
VAR_053415 commonName VAR_053415
VAR_053415 disease not phenotype-associated
VAR_053416 commonName VAR_053416
VAR_053416 disease not phenotype-associated
VAR_053417 commonName VAR_053417
VAR_053417 disease not phenotype-associated
VAR_053418 commonName VAR_053418
VAR_053418 disease not phenotype-associated
VAR_053419 commonName VAR_053419
VAR_053419 disease not phenotype-associated
VAR_053421 commonName VAR_053421
VAR_053421 disease not phenotype-associated
VAR_053422 commonName VAR_053422
VAR_053422 disease not phenotype-associated
VAR_053423 commonName VAR_053423
VAR_053423 disease not phenotype-associated
VAR_053426 commonName VAR_053426
VAR_053426 disease not phenotype-associated
VAR_053427 commonName VAR_053427
VAR_053427 disease not phenotype-associated
VAR_053428 commonName VAR_053428
VAR_053428 disease not phenotype-associated
VAR_053429 commonName VAR_053429
VAR_053429 disease not phenotype-associated
VAR_053430 commonName VAR_053430
VAR_053430 disease not phenotype-associated
VAR_053431 commonName VAR_053431
VAR_053431 disease not phenotype-associated
VAR_053432 commonName VAR_053432
VAR_053432 disease not phenotype-associated
VAR_053435 commonName VAR_053435
VAR_053435 disease not phenotype-associated
VAR_053436 commonName VAR_053436
VAR_053436 disease not phenotype-associated
VAR_053437 commonName VAR_053437
VAR_053437 disease not phenotype-associated
VAR_053438 commonName VAR_053438
VAR_053438 disease not phenotype-associated
VAR_053439 commonName VAR_053439
VAR_053439 disease not phenotype-associated
VAR_053440 commonName VAR_053440
VAR_053440 disease not phenotype-associated
VAR_053441 commonName VAR_053441
VAR_053441 disease not phenotype-associated
VAR_053442 commonName VAR_053442
VAR_053442 disease not phenotype-associated
VAR_053444 commonName VAR_053444
VAR_053444 disease not phenotype-associated
VAR_053445 commonName VAR_053445
VAR_053445 disease not phenotype-associated
VAR_053447 commonName VAR_053447
VAR_053447 disease not phenotype-associated
VAR_053448 commonName VAR_053448
VAR_053448 disease not phenotype-associated
VAR_053449 commonName VAR_053449
VAR_053449 disease not phenotype-associated
VAR_053450 commonName VAR_053450
VAR_053450 disease not phenotype-associated
VAR_053451 commonName VAR_053451
VAR_053451 disease not phenotype-associated
VAR_053452 commonName VAR_053452
VAR_053452 disease not phenotype-associated
VAR_053453 commonName VAR_053453
VAR_053453 disease not phenotype-associated
VAR_053454 commonName VAR_053454
VAR_053454 disease not phenotype-associated
VAR_053455 commonName VAR_053455
VAR_053455 disease not phenotype-associated
VAR_053456 commonName VAR_053456
VAR_053456 disease not phenotype-associated
VAR_053457 commonName VAR_053457
VAR_053457 disease not phenotype-associated
VAR_053458 commonName VAR_053458
VAR_053458 disease not phenotype-associated
VAR_053459 commonName VAR_053459
VAR_053459 disease not phenotype-associated
VAR_053460 commonName VAR_053460
VAR_053460 disease not phenotype-associated
VAR_053461 commonName VAR_053461
VAR_053461 disease not phenotype-associated
VAR_053462 commonName VAR_053462
VAR_053462 disease not phenotype-associated
VAR_053463 commonName VAR_053463
VAR_053463 disease not phenotype-associated
VAR_053464 commonName VAR_053464
VAR_053464 disease not phenotype-associated
VAR_053465 commonName VAR_053465
VAR_053465 disease not phenotype-associated
VAR_053466 commonName VAR_053466
VAR_053466 disease not phenotype-associated
VAR_053467 commonName VAR_053467
VAR_053467 disease not phenotype-associated
VAR_053468 commonName VAR_053468
VAR_053468 disease not phenotype-associated
VAR_053469 commonName VAR_053469
VAR_053469 disease not phenotype-associated
VAR_053470 commonName VAR_053470
VAR_053470 disease not phenotype-associated
VAR_053471 commonName VAR_053471
VAR_053471 disease not phenotype-associated
VAR_053472 commonName VAR_053472
VAR_053472 disease not phenotype-associated
VAR_053473 commonName VAR_053473
VAR_053473 disease not phenotype-associated
VAR_053474 commonName VAR_053474
VAR_053474 disease not phenotype-associated
VAR_053475 commonName VAR_053475
VAR_053475 disease not phenotype-associated
VAR_053476 commonName VAR_053476
VAR_053476 disease not phenotype-associated
VAR_053477 commonName VAR_053477
VAR_053477 disease not phenotype-associated
VAR_053478 commonName VAR_053478
VAR_053478 disease not phenotype-associated
VAR_053479 commonName VAR_053479
VAR_053479 disease not phenotype-associated
VAR_053480 commonName VAR_053480
VAR_053480 disease not phenotype-associated
VAR_053481 commonName VAR_053481
VAR_053481 disease not phenotype-associated
VAR_053482 commonName VAR_053482
VAR_053482 disease not phenotype-associated
VAR_053483 commonName VAR_053483
VAR_053483 disease not phenotype-associated
VAR_053484 commonName VAR_053484
VAR_053484 disease not phenotype-associated
VAR_053485 commonName VAR_053485
VAR_053485 disease not phenotype-associated
VAR_053486 commonName VAR_053486
VAR_053486 disease not phenotype-associated
VAR_053487 commonName VAR_053487
VAR_053487 disease not phenotype-associated
VAR_053488 commonName VAR_053488
VAR_053488 disease not phenotype-associated
VAR_053489 commonName VAR_053489
VAR_053489 disease not phenotype-associated
VAR_053490 commonName VAR_053490
VAR_053490 disease not phenotype-associated
VAR_053491 commonName VAR_053491
VAR_053491 disease not phenotype-associated
VAR_053492 commonName VAR_053492
VAR_053492 disease not phenotype-associated
VAR_053493 commonName VAR_053493
VAR_053493 disease not phenotype-associated
VAR_053494 commonName VAR_053494
VAR_053494 disease not phenotype-associated
VAR_053495 commonName VAR_053495
VAR_053495 disease not phenotype-associated
VAR_053496 commonName VAR_053496
VAR_053496 disease not phenotype-associated
VAR_053497 commonName VAR_053497
VAR_053497 disease not phenotype-associated
VAR_053498 commonName VAR_053498
VAR_053498 disease not phenotype-associated
VAR_053499 commonName VAR_053499
VAR_053499 disease not phenotype-associated
VAR_053500 commonName VAR_053500
VAR_053500 disease not phenotype-associated
VAR_053501 commonName VAR_053501
VAR_053501 disease not phenotype-associated
VAR_053502 commonName VAR_053502
VAR_053502 disease not phenotype-associated
VAR_053503 commonName VAR_053503
VAR_053503 disease not phenotype-associated
VAR_053504 commonName VAR_053504
VAR_053504 disease not phenotype-associated
VAR_053505 commonName VAR_053505
VAR_053505 disease not phenotype-associated
VAR_053506 commonName VAR_053506
VAR_053506 disease not phenotype-associated
VAR_053507 commonName VAR_053507
VAR_053507 disease not phenotype-associated
VAR_053508 commonName VAR_053508
VAR_053508 disease not phenotype-associated
VAR_053509 commonName VAR_053509
VAR_053509 disease not phenotype-associated
VAR_053510 commonName VAR_053510
VAR_053510 disease not phenotype-associated
VAR_053511 commonName VAR_053511
VAR_053511 disease not phenotype-associated
VAR_053512 commonName VAR_053512
VAR_053512 disease not phenotype-associated
VAR_053513 commonName VAR_053513
VAR_053513 disease not phenotype-associated
VAR_053515 commonName VAR_053515
VAR_053515 disease not phenotype-associated
VAR_053517 commonName VAR_053517
VAR_053517 disease not phenotype-associated
VAR_053518 commonName VAR_053518
VAR_053518 disease not phenotype-associated
VAR_053519 commonName VAR_053519
VAR_053519 disease not phenotype-associated
VAR_053520 commonName VAR_053520
VAR_053520 disease not phenotype-associated
VAR_053521 commonName VAR_053521
VAR_053521 disease not phenotype-associated
VAR_053522 commonName VAR_053522
VAR_053522 disease not phenotype-associated
VAR_053523 commonName VAR_053523
VAR_053523 disease not phenotype-associated
VAR_053524 commonName VAR_053524
VAR_053524 disease not phenotype-associated
VAR_053525 commonName VAR_053525
VAR_053525 disease not phenotype-associated
VAR_053526 commonName VAR_053526
VAR_053526 disease not phenotype-associated
VAR_053527 commonName VAR_053527
VAR_053527 disease not phenotype-associated
VAR_053528 commonName VAR_053528
VAR_053528 disease not phenotype-associated
VAR_053529 commonName VAR_053529
VAR_053529 disease not phenotype-associated
VAR_053530 commonName VAR_053530
VAR_053530 disease not phenotype-associated
VAR_053531 commonName VAR_053531
VAR_053531 disease not phenotype-associated
VAR_053533 commonName VAR_053533
VAR_053533 disease not phenotype-associated
VAR_053534 commonName VAR_053534
VAR_053534 disease not phenotype-associated
VAR_053535 commonName VAR_053535
VAR_053535 disease not phenotype-associated
VAR_053536 commonName VAR_053536
VAR_053536 disease not phenotype-associated
VAR_053537 commonName VAR_053537
VAR_053537 disease not phenotype-associated
VAR_053538 commonName VAR_053538
VAR_053538 disease not phenotype-associated
VAR_053540 commonName VAR_053540
VAR_053540 disease not phenotype-associated
VAR_053541 commonName VAR_053541
VAR_053541 disease not phenotype-associated
VAR_053542 commonName VAR_053542
VAR_053542 disease not phenotype-associated
VAR_053543 commonName VAR_053543
VAR_053543 disease not phenotype-associated
VAR_053544 commonName VAR_053544
VAR_053544 disease not phenotype-associated
VAR_053545 commonName VAR_053545
VAR_053545 disease not phenotype-associated
VAR_053546 commonName VAR_053546
VAR_053546 disease not phenotype-associated
VAR_053548 commonName VAR_053548
VAR_053548 disease not phenotype-associated
VAR_053550 commonName VAR_053550
VAR_053550 disease not phenotype-associated
VAR_053551 commonName VAR_053551
VAR_053551 disease not phenotype-associated
VAR_053552 commonName VAR_053552
VAR_053552 disease not phenotype-associated
VAR_053553 commonName VAR_053553
VAR_053553 disease not phenotype-associated
VAR_053554 commonName VAR_053554
VAR_053554 disease not phenotype-associated
VAR_053555 commonName VAR_053555
VAR_053555 disease not phenotype-associated
VAR_053556 commonName VAR_053556
VAR_053556 disease not phenotype-associated
VAR_053557 commonName VAR_053557
VAR_053557 disease not phenotype-associated
VAR_053558 commonName VAR_053558
VAR_053558 disease not phenotype-associated
VAR_053559 commonName VAR_053559
VAR_053559 disease not phenotype-associated
VAR_053560 commonName VAR_053560
VAR_053560 disease not phenotype-associated
VAR_053561 commonName VAR_053561
VAR_053561 disease not phenotype-associated
VAR_053562 commonName VAR_053562
VAR_053562 disease not phenotype-associated
VAR_053563 commonName VAR_053563
VAR_053563 disease not phenotype-associated
VAR_053564 commonName VAR_053564
VAR_053564 disease not phenotype-associated
VAR_053565 commonName VAR_053565
VAR_053565 disease not phenotype-associated
VAR_053566 commonName VAR_053566
VAR_053566 disease not phenotype-associated
VAR_053567 commonName VAR_053567
VAR_053567 disease not phenotype-associated
VAR_053568 commonName VAR_053568
VAR_053568 disease not phenotype-associated
VAR_053569 commonName VAR_053569
VAR_053569 disease not phenotype-associated
VAR_053570 commonName VAR_053570
VAR_053570 disease not phenotype-associated
VAR_053571 commonName VAR_053571
VAR_053571 disease not phenotype-associated
VAR_053572 commonName VAR_053572
VAR_053572 disease not phenotype-associated
VAR_053573 commonName VAR_053573
VAR_053573 disease not phenotype-associated
VAR_053574 commonName VAR_053574
VAR_053574 disease not phenotype-associated
VAR_053575 commonName VAR_053575
VAR_053575 disease not phenotype-associated
VAR_053576 commonName VAR_053576
VAR_053576 disease not phenotype-associated
VAR_053577 commonName VAR_053577
VAR_053577 disease not phenotype-associated
VAR_053578 commonName VAR_053578
VAR_053578 disease not phenotype-associated
VAR_053579 commonName VAR_053579
VAR_053579 disease not phenotype-associated
VAR_053580 commonName VAR_053580
VAR_053580 disease not phenotype-associated
VAR_053581 commonName VAR_053581
VAR_053581 disease not phenotype-associated
VAR_053582 commonName VAR_053582
VAR_053582 disease not phenotype-associated
VAR_053584 commonName VAR_053584
VAR_053584 disease not phenotype-associated
VAR_053585 commonName VAR_053585
VAR_053585 disease not phenotype-associated
VAR_053586 commonName VAR_053586
VAR_053586 disease not phenotype-associated
VAR_053587 commonName VAR_053587
VAR_053587 disease not phenotype-associated
VAR_053588 commonName VAR_053588
VAR_053588 disease not phenotype-associated
VAR_053589 commonName VAR_053589
VAR_053589 disease not phenotype-associated
VAR_053590 commonName VAR_053590
VAR_053590 disease not phenotype-associated
VAR_053591 commonName VAR_053591
VAR_053591 disease not phenotype-associated
VAR_053592 commonName VAR_053592
VAR_053592 disease not phenotype-associated
VAR_053593 commonName VAR_053593
VAR_053593 disease not phenotype-associated
VAR_053594 commonName VAR_053594
VAR_053594 disease not phenotype-associated
VAR_053595 commonName VAR_053595
VAR_053595 disease not phenotype-associated
VAR_053596 commonName VAR_053596
VAR_053596 disease not phenotype-associated
VAR_053597 commonName VAR_053597
VAR_053597 disease not phenotype-associated
VAR_053598 commonName VAR_053598
VAR_053598 disease not phenotype-associated
VAR_053599 commonName VAR_053599
VAR_053599 disease not phenotype-associated
VAR_053600 commonName VAR_053600
VAR_053600 disease not phenotype-associated
VAR_053601 commonName VAR_053601
VAR_053601 disease not phenotype-associated
VAR_053602 commonName VAR_053602
VAR_053602 disease not phenotype-associated
VAR_053603 commonName VAR_053603
VAR_053603 disease not phenotype-associated
VAR_053604 commonName VAR_053604
VAR_053604 disease not phenotype-associated
VAR_053605 commonName VAR_053605
VAR_053605 disease not phenotype-associated
VAR_053606 commonName VAR_053606
VAR_053606 disease not phenotype-associated
VAR_053607 commonName VAR_053607
VAR_053607 disease not phenotype-associated
VAR_053608 commonName VAR_053608
VAR_053608 disease not phenotype-associated
VAR_053609 commonName VAR_053609
VAR_053609 disease not phenotype-associated
VAR_053610 commonName VAR_053610
VAR_053610 disease not phenotype-associated
VAR_053611 commonName VAR_053611
VAR_053611 disease not phenotype-associated
VAR_053612 commonName VAR_053612
VAR_053612 disease not phenotype-associated
VAR_053613 commonName VAR_053613
VAR_053613 disease not phenotype-associated
VAR_053614 commonName VAR_053614
VAR_053614 disease not phenotype-associated
VAR_053615 commonName VAR_053615
VAR_053615 disease not phenotype-associated
VAR_053616 commonName VAR_053616
VAR_053616 disease not phenotype-associated
VAR_053617 commonName VAR_053617
VAR_053617 disease not phenotype-associated
VAR_053618 commonName VAR_053618
VAR_053618 disease not phenotype-associated
VAR_053619 commonName VAR_053619
VAR_053619 disease not phenotype-associated
VAR_053620 commonName VAR_053620
VAR_053620 disease not phenotype-associated
VAR_053621 commonName VAR_053621
VAR_053621 disease not phenotype-associated
VAR_053622 commonName VAR_053622
VAR_053622 disease not phenotype-associated
VAR_053623 commonName VAR_053623
VAR_053623 disease not phenotype-associated
VAR_053624 commonName VAR_053624
VAR_053624 disease not phenotype-associated
VAR_053625 commonName VAR_053625
VAR_053625 disease not phenotype-associated
VAR_053626 commonName VAR_053626
VAR_053626 disease not phenotype-associated
VAR_053627 commonName VAR_053627
VAR_053627 disease not phenotype-associated
VAR_053628 commonName VAR_053628
VAR_053628 disease not phenotype-associated
VAR_053629 commonName VAR_053629
VAR_053629 disease not phenotype-associated
VAR_053630 commonName VAR_053630
VAR_053630 disease not phenotype-associated
VAR_053631 commonName VAR_053631
VAR_053631 disease not phenotype-associated
VAR_053632 commonName VAR_053632
VAR_053632 disease not phenotype-associated
VAR_053633 commonName VAR_053633
VAR_053633 disease not phenotype-associated
VAR_053634 commonName VAR_053634
VAR_053634 disease not phenotype-associated
VAR_053635 commonName VAR_053635
VAR_053635 disease not phenotype-associated
VAR_053636 commonName VAR_053636
VAR_053636 disease not phenotype-associated
VAR_053637 commonName VAR_053637
VAR_053637 disease not phenotype-associated
VAR_053638 commonName VAR_053638
VAR_053638 disease not phenotype-associated
VAR_053639 commonName VAR_053639
VAR_053639 disease not phenotype-associated
VAR_053640 commonName VAR_053640
VAR_053640 disease not phenotype-associated
VAR_053641 commonName VAR_053641
VAR_053641 disease not phenotype-associated
VAR_053642 commonName VAR_053642
VAR_053642 disease not phenotype-associated
VAR_053643 commonName VAR_053643
VAR_053643 disease not phenotype-associated
VAR_053644 commonName VAR_053644
VAR_053644 disease not phenotype-associated
VAR_053645 commonName VAR_053645
VAR_053645 disease not phenotype-associated
VAR_053646 commonName VAR_053646
VAR_053646 disease not phenotype-associated
VAR_053647 commonName VAR_053647
VAR_053647 disease not phenotype-associated
VAR_053648 commonName VAR_053648
VAR_053648 disease not phenotype-associated
VAR_053649 commonName VAR_053649
VAR_053649 disease not phenotype-associated
VAR_053650 commonName VAR_053650
VAR_053650 disease not phenotype-associated
VAR_053651 commonName VAR_053651
VAR_053651 disease not phenotype-associated
VAR_053652 commonName VAR_053652
VAR_053652 disease not phenotype-associated
VAR_053653 commonName VAR_053653
VAR_053653 disease not phenotype-associated
VAR_053654 commonName VAR_053654
VAR_053654 disease not phenotype-associated
VAR_053655 commonName VAR_053655
VAR_053655 disease not phenotype-associated
VAR_053656 commonName VAR_053656
VAR_053656 disease not phenotype-associated
VAR_053657 commonName VAR_053657
VAR_053657 disease not phenotype-associated
VAR_053658 commonName VAR_053658
VAR_053658 disease not phenotype-associated
VAR_053659 commonName VAR_053659
VAR_053659 disease not phenotype-associated
VAR_053660 commonName VAR_053660
VAR_053660 disease not phenotype-associated
VAR_053661 commonName VAR_053661
VAR_053661 disease not phenotype-associated
VAR_053662 commonName VAR_053662
VAR_053662 disease not phenotype-associated
VAR_053663 commonName VAR_053663
VAR_053663 disease not phenotype-associated
VAR_053664 commonName VAR_053664
VAR_053664 disease not phenotype-associated
VAR_053665 commonName VAR_053665
VAR_053665 disease not phenotype-associated
VAR_053666 commonName VAR_053666
VAR_053666 disease not phenotype-associated
VAR_053667 commonName VAR_053667
VAR_053667 disease not phenotype-associated
VAR_053668 commonName VAR_053668
VAR_053668 disease not phenotype-associated
VAR_053669 commonName VAR_053669
VAR_053669 disease not phenotype-associated
VAR_053670 commonName VAR_053670
VAR_053670 disease not phenotype-associated
VAR_053671 commonName VAR_053671
VAR_053671 disease not phenotype-associated
VAR_053672 commonName VAR_053672
VAR_053672 disease not phenotype-associated
VAR_053673 commonName VAR_053673
VAR_053673 disease not phenotype-associated
VAR_053675 commonName VAR_053675
VAR_053675 disease not phenotype-associated
VAR_053676 commonName VAR_053676
VAR_053676 disease not phenotype-associated
VAR_053677 commonName VAR_053677
VAR_053677 disease not phenotype-associated
VAR_053678 commonName VAR_053678
VAR_053678 disease not phenotype-associated
VAR_053679 commonName VAR_053679
VAR_053679 disease not phenotype-associated
VAR_053680 commonName VAR_053680
VAR_053680 disease not phenotype-associated
VAR_053681 commonName VAR_053681
VAR_053681 disease not phenotype-associated
VAR_053682 commonName VAR_053682
VAR_053682 disease not phenotype-associated
VAR_053683 commonName VAR_053683
VAR_053683 disease not phenotype-associated
VAR_053684 commonName VAR_053684
VAR_053684 disease not phenotype-associated
VAR_053685 commonName VAR_053685
VAR_053685 disease not phenotype-associated
VAR_053686 commonName VAR_053686
VAR_053686 disease not phenotype-associated
VAR_053687 commonName VAR_053687
VAR_053687 disease not phenotype-associated
VAR_053688 commonName VAR_053688
VAR_053688 disease not phenotype-associated
VAR_053690 commonName VAR_053690
VAR_053690 disease not phenotype-associated
VAR_053691 commonName VAR_053691
VAR_053691 disease not phenotype-associated
VAR_053694 commonName VAR_053694
VAR_053694 disease not phenotype-associated
VAR_053695 commonName VAR_053695
VAR_053695 disease not phenotype-associated
VAR_053696 commonName VAR_053696
VAR_053696 disease not phenotype-associated
VAR_053697 commonName VAR_053697
VAR_053697 disease not phenotype-associated
VAR_053698 commonName VAR_053698
VAR_053698 disease not phenotype-associated
VAR_053699 commonName VAR_053699
VAR_053699 disease not phenotype-associated
VAR_053700 commonName VAR_053700
VAR_053700 disease not phenotype-associated
VAR_053703 commonName VAR_053703
VAR_053703 disease not phenotype-associated
VAR_053704 commonName VAR_053704
VAR_053704 disease not phenotype-associated
VAR_053705 commonName VAR_053705
VAR_053705 disease not phenotype-associated
VAR_053706 commonName VAR_053706
VAR_053706 disease not phenotype-associated
VAR_053707 commonName VAR_053707
VAR_053707 disease not phenotype-associated
VAR_053708 commonName VAR_053708
VAR_053708 disease not phenotype-associated
VAR_053709 commonName VAR_053709
VAR_053709 disease not phenotype-associated
VAR_053710 commonName VAR_053710
VAR_053710 disease not phenotype-associated
VAR_053711 commonName VAR_053711
VAR_053711 disease not phenotype-associated
VAR_053712 commonName VAR_053712
VAR_053712 disease not phenotype-associated
VAR_053713 commonName VAR_053713
VAR_053713 disease not phenotype-associated
VAR_053714 commonName VAR_053714
VAR_053714 disease not phenotype-associated
VAR_053715 commonName VAR_053715
VAR_053715 disease not phenotype-associated
VAR_053716 commonName VAR_053716
VAR_053716 disease not phenotype-associated
VAR_053717 commonName VAR_053717
VAR_053717 disease not phenotype-associated
VAR_053718 commonName VAR_053718
VAR_053718 disease not phenotype-associated
VAR_053719 commonName VAR_053719
VAR_053719 disease not phenotype-associated
VAR_053720 commonName VAR_053720
VAR_053720 disease not phenotype-associated
VAR_053721 commonName VAR_053721
VAR_053721 disease not phenotype-associated
VAR_053722 commonName VAR_053722
VAR_053722 disease not phenotype-associated
VAR_053723 commonName VAR_053723
VAR_053723 disease not phenotype-associated
VAR_053724 commonName VAR_053724
VAR_053724 disease not phenotype-associated
VAR_053725 commonName VAR_053725
VAR_053725 disease not phenotype-associated
VAR_053726 commonName VAR_053726
VAR_053726 disease not phenotype-associated
VAR_053727 commonName VAR_053727
VAR_053727 disease not phenotype-associated
VAR_053728 commonName VAR_053728
VAR_053728 disease not phenotype-associated
VAR_053729 commonName VAR_053729
VAR_053729 disease not phenotype-associated
VAR_053730 commonName VAR_053730
VAR_053730 disease not phenotype-associated
VAR_053731 commonName VAR_053731
VAR_053731 disease not phenotype-associated
VAR_053732 commonName VAR_053732
VAR_053732 disease not phenotype-associated
VAR_053733 commonName VAR_053733
VAR_053733 disease not phenotype-associated
VAR_053734 commonName VAR_053734
VAR_053734 disease not phenotype-associated
VAR_053735 commonName VAR_053735
VAR_053735 disease not phenotype-associated
VAR_053736 commonName VAR_053736
VAR_053736 disease not phenotype-associated
VAR_053737 commonName VAR_053737
VAR_053737 disease not phenotype-associated
VAR_053738 commonName VAR_053738
VAR_053738 disease not phenotype-associated
VAR_053739 commonName VAR_053739
VAR_053739 disease not phenotype-associated
VAR_053740 commonName VAR_053740
VAR_053740 disease not phenotype-associated
VAR_053741 commonName VAR_053741
VAR_053741 disease not phenotype-associated
VAR_053742 commonName VAR_053742
VAR_053742 disease not phenotype-associated
VAR_053743 commonName VAR_053743
VAR_053743 disease not phenotype-associated
VAR_053744 commonName VAR_053744
VAR_053744 disease not phenotype-associated
VAR_053745 commonName VAR_053745
VAR_053745 disease not phenotype-associated
VAR_053747 commonName VAR_053747
VAR_053747 disease not phenotype-associated
VAR_053748 commonName VAR_053748
VAR_053748 disease not phenotype-associated
VAR_053749 commonName VAR_053749
VAR_053749 disease not phenotype-associated
VAR_053750 commonName VAR_053750
VAR_053750 disease not phenotype-associated
VAR_053751 commonName VAR_053751
VAR_053751 disease not phenotype-associated
VAR_053752 commonName VAR_053752
VAR_053752 disease not phenotype-associated
VAR_053753 commonName VAR_053753
VAR_053753 disease not phenotype-associated
VAR_053754 commonName VAR_053754
VAR_053754 disease not phenotype-associated
VAR_053755 commonName VAR_053755
VAR_053755 disease not phenotype-associated
VAR_053756 commonName VAR_053756
VAR_053756 disease not phenotype-associated
VAR_053757 commonName VAR_053757
VAR_053757 disease not phenotype-associated
VAR_053758 commonName VAR_053758
VAR_053758 disease not phenotype-associated
VAR_053759 commonName VAR_053759
VAR_053759 disease not phenotype-associated
VAR_053760 commonName VAR_053760
VAR_053760 disease not phenotype-associated
VAR_053761 commonName VAR_053761
VAR_053761 disease not phenotype-associated
VAR_053762 commonName VAR_053762
VAR_053762 disease not phenotype-associated
VAR_053763 commonName VAR_053763
VAR_053763 disease not phenotype-associated
VAR_053764 commonName VAR_053764
VAR_053764 disease not phenotype-associated
VAR_053765 commonName VAR_053765
VAR_053765 disease not phenotype-associated
VAR_053766 commonName VAR_053766
VAR_053766 disease not phenotype-associated
VAR_053767 commonName VAR_053767
VAR_053767 disease not phenotype-associated
VAR_053768 commonName VAR_053768
VAR_053768 disease not phenotype-associated
VAR_053769 commonName VAR_053769
VAR_053769 disease not phenotype-associated
VAR_053770 commonName VAR_053770
VAR_053770 disease not phenotype-associated
VAR_053771 commonName VAR_053771
VAR_053771 disease not phenotype-associated
VAR_053773 commonName VAR_053773
VAR_053773 disease not phenotype-associated
VAR_053774 commonName VAR_053774
VAR_053774 disease not phenotype-associated
VAR_053775 commonName VAR_053775
VAR_053775 disease not phenotype-associated
VAR_053776 commonName VAR_053776
VAR_053776 disease not phenotype-associated
VAR_053777 commonName VAR_053777
VAR_053777 disease not phenotype-associated
VAR_053778 commonName VAR_053778
VAR_053778 disease not phenotype-associated
VAR_053779 commonName VAR_053779
VAR_053779 disease not phenotype-associated
VAR_053780 commonName VAR_053780
VAR_053780 disease not phenotype-associated
VAR_053781 commonName VAR_053781
VAR_053781 disease not phenotype-associated
VAR_053782 commonName VAR_053782
VAR_053782 disease not phenotype-associated
VAR_053783 commonName VAR_053783
VAR_053783 disease not phenotype-associated
VAR_053784 commonName VAR_053784
VAR_053784 disease not phenotype-associated
VAR_053785 commonName VAR_053785
VAR_053785 disease not phenotype-associated
VAR_053787 commonName VAR_053787
VAR_053787 disease not phenotype-associated
VAR_053788 commonName VAR_053788
VAR_053788 disease not phenotype-associated
VAR_053789 commonName VAR_053789
VAR_053789 disease not phenotype-associated
VAR_053790 commonName VAR_053790
VAR_053790 disease not phenotype-associated
VAR_053792 commonName VAR_053792
VAR_053792 disease not phenotype-associated
VAR_053793 commonName VAR_053793
VAR_053793 disease not phenotype-associated
VAR_053794 commonName VAR_053794
VAR_053794 disease not phenotype-associated
VAR_053795 commonName VAR_053795
VAR_053795 disease not phenotype-associated
VAR_053796 commonName VAR_053796
VAR_053796 disease not phenotype-associated
VAR_053797 commonName VAR_053797
VAR_053797 disease not phenotype-associated
VAR_053798 commonName VAR_053798
VAR_053798 disease not phenotype-associated
VAR_053799 commonName VAR_053799
VAR_053799 disease not phenotype-associated
VAR_053800 commonName VAR_053800
VAR_053800 disease not phenotype-associated
VAR_053801 commonName VAR_053801
VAR_053801 disease not phenotype-associated
VAR_053802 commonName VAR_053802
VAR_053802 disease not phenotype-associated
VAR_053803 commonName VAR_053803
VAR_053803 disease not phenotype-associated
VAR_053804 commonName VAR_053804
VAR_053804 disease not phenotype-associated
VAR_053805 commonName VAR_053805
VAR_053805 disease not phenotype-associated
VAR_053806 commonName VAR_053806
VAR_053806 disease not phenotype-associated
VAR_053807 commonName VAR_053807
VAR_053807 disease not phenotype-associated
VAR_053808 commonName VAR_053808
VAR_053808 disease not phenotype-associated
VAR_053809 commonName VAR_053809
VAR_053809 disease not phenotype-associated
VAR_053810 commonName VAR_053810
VAR_053810 disease not phenotype-associated
VAR_053811 commonName VAR_053811
VAR_053811 disease not phenotype-associated
VAR_053812 commonName VAR_053812
VAR_053812 disease not phenotype-associated
VAR_053813 commonName VAR_053813
VAR_053813 disease not phenotype-associated
VAR_053814 commonName VAR_053814
VAR_053814 disease not phenotype-associated
VAR_053815 commonName VAR_053815
VAR_053815 disease not phenotype-associated
VAR_053816 commonName VAR_053816
VAR_053816 disease not phenotype-associated
VAR_053817 commonName VAR_053817
VAR_053817 disease not phenotype-associated
VAR_053818 commonName VAR_053818
VAR_053818 disease not phenotype-associated
VAR_053819 commonName VAR_053819
VAR_053819 disease not phenotype-associated
VAR_053820 commonName VAR_053820
VAR_053820 disease not phenotype-associated
VAR_053821 commonName VAR_053821
VAR_053821 disease not phenotype-associated
VAR_053822 commonName VAR_053822
VAR_053822 disease not phenotype-associated
VAR_053823 commonName VAR_053823
VAR_053823 disease not phenotype-associated
VAR_053825 commonName VAR_053825
VAR_053825 disease not phenotype-associated
VAR_053826 commonName VAR_053826
VAR_053826 disease not phenotype-associated
VAR_053827 commonName VAR_053827
VAR_053827 disease not phenotype-associated
VAR_053828 commonName VAR_053828
VAR_053828 disease not phenotype-associated
VAR_053829 commonName VAR_053829
VAR_053829 disease not phenotype-associated
VAR_053831 commonName VAR_053831
VAR_053831 disease not phenotype-associated
VAR_053833 commonName VAR_053833
VAR_053833 disease not phenotype-associated
VAR_053834 commonName VAR_053834
VAR_053834 disease not phenotype-associated
VAR_053835 commonName VAR_053835
VAR_053835 disease not phenotype-associated
VAR_053836 commonName VAR_053836
VAR_053836 disease not phenotype-associated
VAR_053837 commonName VAR_053837
VAR_053837 disease not phenotype-associated
VAR_053840 commonName VAR_053840
VAR_053840 disease not phenotype-associated
VAR_053841 commonName VAR_053841
VAR_053841 disease not phenotype-associated
VAR_053842 commonName VAR_053842
VAR_053842 disease not phenotype-associated
VAR_053843 commonName VAR_053843
VAR_053843 disease not phenotype-associated
VAR_053844 commonName VAR_053844
VAR_053844 disease not phenotype-associated
VAR_053845 commonName VAR_053845
VAR_053845 disease not phenotype-associated
VAR_053846 commonName VAR_053846
VAR_053846 disease not phenotype-associated
VAR_053847 commonName VAR_053847
VAR_053847 disease not phenotype-associated
VAR_053848 commonName VAR_053848
VAR_053848 disease not phenotype-associated
VAR_053849 commonName VAR_053849
VAR_053849 disease not phenotype-associated
VAR_053850 commonName VAR_053850
VAR_053850 disease not phenotype-associated
VAR_053851 commonName VAR_053851
VAR_053851 disease not phenotype-associated
VAR_053853 commonName VAR_053853
VAR_053853 disease not phenotype-associated
VAR_053854 commonName VAR_053854
VAR_053854 disease not phenotype-associated
VAR_053855 commonName VAR_053855
VAR_053855 disease not phenotype-associated
VAR_053856 commonName VAR_053856
VAR_053856 disease not phenotype-associated
VAR_053857 commonName VAR_053857
VAR_053857 disease not phenotype-associated
VAR_053858 commonName VAR_053858
VAR_053858 disease not phenotype-associated
VAR_053859 commonName VAR_053859
VAR_053859 disease not phenotype-associated
VAR_053860 commonName VAR_053860
VAR_053860 disease not phenotype-associated
VAR_053861 commonName VAR_053861
VAR_053861 disease not phenotype-associated
VAR_053862 commonName VAR_053862
VAR_053862 disease not phenotype-associated
VAR_053863 commonName VAR_053863
VAR_053863 disease not phenotype-associated
VAR_053864 commonName VAR_053864
VAR_053864 disease not phenotype-associated
VAR_053865 commonName VAR_053865
VAR_053865 disease not phenotype-associated
VAR_053866 commonName VAR_053866
VAR_053866 disease not phenotype-associated
VAR_053867 commonName VAR_053867
VAR_053867 disease not phenotype-associated
VAR_053868 commonName VAR_053868
VAR_053868 disease not phenotype-associated
VAR_053869 commonName VAR_053869
VAR_053869 disease not phenotype-associated
VAR_053870 commonName VAR_053870
VAR_053870 disease not phenotype-associated
VAR_053871 commonName VAR_053871
VAR_053871 disease not phenotype-associated
VAR_053872 commonName VAR_053872
VAR_053872 disease not phenotype-associated
VAR_053873 commonName VAR_053873
VAR_053873 disease not phenotype-associated
VAR_053875 commonName VAR_053875
VAR_053875 disease not phenotype-associated
VAR_053876 commonName VAR_053876
VAR_053876 disease not phenotype-associated
VAR_053877 commonName VAR_053877
VAR_053877 disease not phenotype-associated
VAR_053878 commonName VAR_053878
VAR_053878 disease not phenotype-associated
VAR_053879 commonName VAR_053879
VAR_053879 disease not phenotype-associated
VAR_053880 commonName VAR_053880
VAR_053880 disease not phenotype-associated
VAR_053881 commonName VAR_053881
VAR_053881 disease not phenotype-associated
VAR_053882 commonName VAR_053882
VAR_053882 disease not phenotype-associated
VAR_053885 commonName VAR_053885
VAR_053885 disease not phenotype-associated
VAR_053886 commonName VAR_053886
VAR_053886 disease not phenotype-associated
VAR_053887 commonName VAR_053887
VAR_053887 disease not phenotype-associated
VAR_053888 commonName VAR_053888
VAR_053888 disease not phenotype-associated
VAR_053889 commonName VAR_053889
VAR_053889 disease not phenotype-associated
VAR_053890 commonName VAR_053890
VAR_053890 disease not phenotype-associated
VAR_053891 commonName VAR_053891
VAR_053891 disease not phenotype-associated
VAR_053892 commonName VAR_053892
VAR_053892 disease not phenotype-associated
VAR_053893 commonName VAR_053893
VAR_053893 disease not phenotype-associated
VAR_053894 commonName VAR_053894
VAR_053894 disease not phenotype-associated
VAR_053895 commonName VAR_053895
VAR_053895 disease not phenotype-associated
VAR_053896 commonName VAR_053896
VAR_053896 disease not phenotype-associated
VAR_053897 commonName VAR_053897
VAR_053897 disease not phenotype-associated
VAR_053898 commonName VAR_053898
VAR_053898 disease not phenotype-associated
VAR_053899 commonName VAR_053899
VAR_053899 disease not phenotype-associated
VAR_053900 commonName VAR_053900
VAR_053900 disease not phenotype-associated
VAR_053901 commonName VAR_053901
VAR_053901 disease not phenotype-associated
VAR_053902 commonName VAR_053902
VAR_053902 disease not phenotype-associated
VAR_053903 commonName VAR_053903
VAR_053903 disease not phenotype-associated
VAR_053904 commonName VAR_053904
VAR_053904 disease not phenotype-associated
VAR_053905 commonName VAR_053905
VAR_053905 disease not phenotype-associated
VAR_053907 commonName VAR_053907
VAR_053907 disease not phenotype-associated
VAR_053908 commonName VAR_053908
VAR_053908 disease not phenotype-associated
VAR_053909 commonName VAR_053909
VAR_053909 disease not phenotype-associated
VAR_053910 commonName VAR_053910
VAR_053910 disease not phenotype-associated
VAR_053911 commonName VAR_053911
VAR_053911 disease not phenotype-associated
VAR_053913 commonName VAR_053913
VAR_053913 disease not phenotype-associated
VAR_053914 commonName VAR_053914
VAR_053914 disease not phenotype-associated
VAR_053915 commonName VAR_053915
VAR_053915 disease not phenotype-associated
VAR_053916 commonName VAR_053916
VAR_053916 disease not phenotype-associated
VAR_053917 commonName VAR_053917
VAR_053917 disease not phenotype-associated
VAR_053918 commonName VAR_053918
VAR_053918 disease not phenotype-associated
VAR_053919 commonName VAR_053919
VAR_053919 disease not phenotype-associated
VAR_053921 commonName VAR_053921
VAR_053921 disease not phenotype-associated
VAR_053922 commonName VAR_053922
VAR_053922 disease not phenotype-associated
VAR_053923 commonName VAR_053923
VAR_053923 disease not phenotype-associated
VAR_053924 commonName VAR_053924
VAR_053924 disease not phenotype-associated
VAR_053925 commonName VAR_053925
VAR_053925 disease not phenotype-associated
VAR_053926 commonName VAR_053926
VAR_053926 disease not phenotype-associated
VAR_053927 commonName VAR_053927
VAR_053927 disease not phenotype-associated
VAR_053928 commonName VAR_053928
VAR_053928 disease not phenotype-associated
VAR_053929 commonName VAR_053929
VAR_053929 disease not phenotype-associated
VAR_053930 commonName VAR_053930
VAR_053930 disease not phenotype-associated
VAR_053931 commonName VAR_053931
VAR_053931 disease not phenotype-associated
VAR_053932 commonName VAR_053932
VAR_053932 disease not phenotype-associated
VAR_053933 commonName VAR_053933
VAR_053933 disease not phenotype-associated
VAR_053934 commonName VAR_053934
VAR_053934 disease not phenotype-associated
VAR_053935 commonName VAR_053935
VAR_053935 disease not phenotype-associated
VAR_053936 commonName VAR_053936
VAR_053936 disease not phenotype-associated
VAR_053937 commonName VAR_053937
VAR_053937 disease not phenotype-associated
VAR_053938 commonName VAR_053938
VAR_053938 disease not phenotype-associated
VAR_053939 commonName VAR_053939
VAR_053939 disease not phenotype-associated
VAR_053940 commonName VAR_053940
VAR_053940 disease not phenotype-associated
VAR_053941 commonName VAR_053941
VAR_053941 disease not phenotype-associated
VAR_053942 commonName VAR_053942
VAR_053942 disease not phenotype-associated
VAR_053943 commonName VAR_053943
VAR_053943 disease not phenotype-associated
VAR_053944 commonName VAR_053944
VAR_053944 disease not phenotype-associated
VAR_053945 commonName VAR_053945
VAR_053945 disease not phenotype-associated
VAR_053946 commonName VAR_053946
VAR_053946 disease not phenotype-associated
VAR_053947 commonName VAR_053947
VAR_053947 disease not phenotype-associated
VAR_053948 commonName VAR_053948
VAR_053948 disease not phenotype-associated
VAR_053949 commonName VAR_053949
VAR_053949 disease not phenotype-associated
VAR_053950 commonName VAR_053950
VAR_053950 disease not phenotype-associated
VAR_053951 commonName VAR_053951
VAR_053951 disease not phenotype-associated
VAR_053953 commonName VAR_053953
VAR_053953 disease not phenotype-associated
VAR_053954 commonName VAR_053954
VAR_053954 disease not phenotype-associated
VAR_053955 commonName VAR_053955
VAR_053955 disease not phenotype-associated
VAR_053956 commonName VAR_053956
VAR_053956 disease not phenotype-associated
VAR_053957 commonName VAR_053957
VAR_053957 disease not phenotype-associated
VAR_053958 commonName VAR_053958
VAR_053958 disease not phenotype-associated
VAR_053959 commonName VAR_053959
VAR_053959 disease not phenotype-associated
VAR_053961 commonName VAR_053961
VAR_053961 disease not phenotype-associated
VAR_053962 commonName VAR_053962
VAR_053962 disease not phenotype-associated
VAR_053963 commonName VAR_053963
VAR_053963 disease not phenotype-associated
VAR_053964 commonName VAR_053964
VAR_053964 disease not phenotype-associated
VAR_053965 commonName VAR_053965
VAR_053965 disease not phenotype-associated
VAR_053966 commonName VAR_053966
VAR_053966 disease not phenotype-associated
VAR_053967 commonName VAR_053967
VAR_053967 disease not phenotype-associated
VAR_053968 commonName VAR_053968
VAR_053968 disease not phenotype-associated
VAR_053969 commonName VAR_053969
VAR_053969 disease not phenotype-associated
VAR_053970 commonName VAR_053970
VAR_053970 disease not phenotype-associated
VAR_053971 commonName VAR_053971
VAR_053971 disease not phenotype-associated
VAR_053972 commonName VAR_053972
VAR_053972 disease not phenotype-associated
VAR_053973 commonName VAR_053973
VAR_053973 disease not phenotype-associated
VAR_053974 commonName VAR_053974
VAR_053974 disease not phenotype-associated
VAR_053975 commonName VAR_053975
VAR_053975 disease not phenotype-associated
VAR_053976 commonName VAR_053976
VAR_053976 disease not phenotype-associated
VAR_053977 commonName VAR_053977
VAR_053977 disease not phenotype-associated
VAR_053979 commonName VAR_053979
VAR_053979 disease not phenotype-associated
VAR_053980 commonName VAR_053980
VAR_053980 disease not phenotype-associated
VAR_053981 commonName VAR_053981
VAR_053981 disease not phenotype-associated
VAR_053982 commonName VAR_053982
VAR_053982 disease not phenotype-associated
VAR_053983 commonName VAR_053983
VAR_053983 disease not phenotype-associated
VAR_053984 commonName VAR_053984
VAR_053984 disease not phenotype-associated
VAR_053985 commonName VAR_053985
VAR_053985 disease not phenotype-associated
VAR_053986 commonName VAR_053986
VAR_053986 disease not phenotype-associated
VAR_053987 commonName VAR_053987
VAR_053987 disease not phenotype-associated
VAR_053988 commonName VAR_053988
VAR_053988 disease not phenotype-associated
VAR_053989 commonName VAR_053989
VAR_053989 disease not phenotype-associated
VAR_053990 commonName VAR_053990
VAR_053990 disease not phenotype-associated
VAR_053991 commonName VAR_053991
VAR_053991 disease not phenotype-associated
VAR_053992 commonName VAR_053992
VAR_053992 disease not phenotype-associated
VAR_053993 commonName VAR_053993
VAR_053993 disease not phenotype-associated
VAR_053994 commonName VAR_053994
VAR_053994 disease not phenotype-associated
VAR_053995 commonName VAR_053995
VAR_053995 disease not phenotype-associated
VAR_053996 commonName VAR_053996
VAR_053996 disease not phenotype-associated
VAR_053997 commonName VAR_053997
VAR_053997 disease not phenotype-associated
VAR_053998 commonName VAR_053998
VAR_053998 disease not phenotype-associated
VAR_053999 commonName VAR_053999
VAR_053999 disease not phenotype-associated
VAR_054000 commonName VAR_054000
VAR_054000 disease not phenotype-associated
VAR_054001 commonName VAR_054001
VAR_054001 disease not phenotype-associated
VAR_054002 commonName VAR_054002
VAR_054002 disease not phenotype-associated
VAR_054003 commonName VAR_054003
VAR_054003 disease not phenotype-associated
VAR_054004 commonName VAR_054004
VAR_054004 disease not phenotype-associated
VAR_054005 commonName VAR_054005
VAR_054005 disease not phenotype-associated
VAR_054006 commonName VAR_054006
VAR_054006 disease not phenotype-associated
VAR_054008 commonName VAR_054008
VAR_054008 disease not phenotype-associated
VAR_054009 commonName VAR_054009
VAR_054009 disease not phenotype-associated
VAR_054010 commonName VAR_054010
VAR_054010 disease not phenotype-associated
VAR_054011 commonName VAR_054011
VAR_054011 disease not phenotype-associated
VAR_054012 commonName VAR_054012
VAR_054012 disease not phenotype-associated
VAR_054013 commonName VAR_054013
VAR_054013 disease not phenotype-associated
VAR_054014 commonName VAR_054014
VAR_054014 disease not phenotype-associated
VAR_054016 commonName VAR_054016
VAR_054016 disease not phenotype-associated
VAR_054017 commonName VAR_054017
VAR_054017 disease not phenotype-associated
VAR_054018 commonName VAR_054018
VAR_054018 disease not phenotype-associated
VAR_054019 commonName VAR_054019
VAR_054019 disease not phenotype-associated
VAR_054020 commonName VAR_054020
VAR_054020 disease not phenotype-associated
VAR_054021 commonName VAR_054021
VAR_054021 disease not phenotype-associated
VAR_054022 commonName VAR_054022
VAR_054022 disease not phenotype-associated
VAR_054023 commonName VAR_054023
VAR_054023 disease not phenotype-associated
VAR_054024 commonName VAR_054024
VAR_054024 disease not phenotype-associated
VAR_054025 commonName VAR_054025
VAR_054025 disease not phenotype-associated
VAR_054026 commonName VAR_054026
VAR_054026 disease not phenotype-associated
VAR_054027 commonName VAR_054027
VAR_054027 disease not phenotype-associated
VAR_054028 commonName VAR_054028
VAR_054028 disease not phenotype-associated
VAR_054029 commonName VAR_054029
VAR_054029 disease not phenotype-associated
VAR_054030 commonName VAR_054030
VAR_054030 disease not phenotype-associated
VAR_054032 commonName VAR_054032
VAR_054032 disease not phenotype-associated
VAR_054033 commonName VAR_054033
VAR_054033 disease not phenotype-associated
VAR_054034 commonName VAR_054034
VAR_054034 disease not phenotype-associated
VAR_054035 commonName VAR_054035
VAR_054035 disease not phenotype-associated
VAR_054036 commonName VAR_054036
VAR_054036 disease not phenotype-associated
VAR_054037 commonName VAR_054037
VAR_054037 disease not phenotype-associated
VAR_054038 commonName VAR_054038
VAR_054038 disease not phenotype-associated
VAR_054039 commonName VAR_054039
VAR_054039 disease not phenotype-associated
VAR_054040 commonName VAR_054040
VAR_054040 disease not phenotype-associated
VAR_054041 commonName VAR_054041
VAR_054041 disease not phenotype-associated
VAR_054042 commonName VAR_054042
VAR_054042 disease not phenotype-associated
VAR_054043 commonName VAR_054043
VAR_054043 disease not phenotype-associated
VAR_054044 commonName VAR_054044
VAR_054044 disease not phenotype-associated
VAR_054045 commonName VAR_054045
VAR_054045 disease not phenotype-associated
VAR_054047 commonName VAR_054047
VAR_054047 disease not phenotype-associated
VAR_054048 commonName VAR_054048
VAR_054048 disease not phenotype-associated
VAR_054049 commonName VAR_054049
VAR_054049 disease not phenotype-associated
VAR_054050 commonName VAR_054050
VAR_054050 disease not phenotype-associated
VAR_054051 commonName VAR_054051
VAR_054051 disease not phenotype-associated
VAR_054052 commonName VAR_054052
VAR_054052 disease not phenotype-associated
VAR_054053 commonName VAR_054053
VAR_054053 disease not phenotype-associated
VAR_054056 commonName VAR_054056
VAR_054056 disease not phenotype-associated
VAR_054057 commonName VAR_054057
VAR_054057 disease not phenotype-associated
VAR_054058 commonName VAR_054058
VAR_054058 disease not phenotype-associated
VAR_054059 commonName VAR_054059
VAR_054059 disease not phenotype-associated
VAR_054060 commonName VAR_054060
VAR_054060 disease not phenotype-associated
VAR_054061 commonName VAR_054061
VAR_054061 disease not phenotype-associated
VAR_054063 commonName VAR_054063
VAR_054063 disease not phenotype-associated
VAR_054064 commonName VAR_054064
VAR_054064 disease not phenotype-associated
VAR_054065 commonName VAR_054065
VAR_054065 disease not phenotype-associated
VAR_054066 commonName VAR_054066
VAR_054066 disease not phenotype-associated
VAR_054067 commonName VAR_054067
VAR_054067 disease not phenotype-associated
VAR_054068 commonName VAR_054068
VAR_054068 disease not phenotype-associated
VAR_054069 commonName VAR_054069
VAR_054069 disease not phenotype-associated
VAR_054070 commonName VAR_054070
VAR_054070 disease not phenotype-associated
VAR_054071 commonName VAR_054071
VAR_054071 disease not phenotype-associated
VAR_054078 commonName VAR_054078
VAR_054078 disease not phenotype-associated
VAR_054079 commonName VAR_054079
VAR_054079 disease not phenotype-associated
VAR_054080 commonName VAR_054080
VAR_054080 disease not phenotype-associated
VAR_054081 commonName VAR_054081
VAR_054081 disease not phenotype-associated
VAR_054082 commonName VAR_054082
VAR_054082 disease not phenotype-associated
VAR_054083 commonName VAR_054083
VAR_054083 disease not phenotype-associated
VAR_054084 commonName VAR_054084
VAR_054084 disease not phenotype-associated
VAR_054085 commonName VAR_054085
VAR_054085 disease not phenotype-associated
VAR_054086 commonName VAR_054086
VAR_054086 disease not phenotype-associated
VAR_054087 commonName VAR_054087
VAR_054087 disease not phenotype-associated
VAR_054088 commonName VAR_054088
VAR_054088 disease not phenotype-associated
VAR_054089 commonName VAR_054089
VAR_054089 disease not phenotype-associated
VAR_054090 commonName VAR_054090
VAR_054090 disease not phenotype-associated
VAR_054091 commonName VAR_054091
VAR_054091 disease not phenotype-associated
VAR_054092 commonName VAR_054092
VAR_054092 disease not phenotype-associated
VAR_054093 commonName VAR_054093
VAR_054093 disease not phenotype-associated
VAR_054094 commonName VAR_054094
VAR_054094 disease not phenotype-associated
VAR_054095 commonName VAR_054095
VAR_054095 disease not phenotype-associated
VAR_054098 commonName VAR_054098
VAR_054098 disease not phenotype-associated
VAR_054099 commonName VAR_054099
VAR_054099 disease not phenotype-associated
VAR_054101 commonName VAR_054101
VAR_054101 disease not phenotype-associated
VAR_054102 commonName VAR_054102
VAR_054102 disease not phenotype-associated
VAR_054103 commonName VAR_054103
VAR_054103 disease not phenotype-associated
VAR_054104 commonName VAR_054104
VAR_054104 disease not phenotype-associated
VAR_054105 commonName VAR_054105
VAR_054105 disease not phenotype-associated
VAR_054106 commonName VAR_054106
VAR_054106 disease not phenotype-associated
VAR_054107 commonName VAR_054107
VAR_054107 disease not phenotype-associated
VAR_054108 commonName VAR_054108
VAR_054108 disease not phenotype-associated
VAR_054109 commonName VAR_054109
VAR_054109 disease not phenotype-associated
VAR_054110 commonName VAR_054110
VAR_054110 disease not phenotype-associated
VAR_054111 commonName VAR_054111
VAR_054111 disease not phenotype-associated
VAR_054112 commonName VAR_054112
VAR_054112 disease phenotype-associated
VAR_054112 phenoCommon Dystonia type 5 (DYT5) [MIM:128230]
VAR_054113 commonName VAR_054113
VAR_054113 disease phenotype-associated
VAR_054113 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054114 commonName VAR_054114
VAR_054114 disease phenotype-associated
VAR_054114 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054115 commonName VAR_054115
VAR_054115 disease phenotype-associated
VAR_054115 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054116 commonName VAR_054116
VAR_054116 disease phenotype-associated
VAR_054116 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054117 commonName VAR_054117
VAR_054117 disease phenotype-associated
VAR_054117 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054118 commonName VAR_054118
VAR_054118 disease phenotype-associated
VAR_054118 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850]
VAR_054119 commonName VAR_054119
VAR_054119 disease phenotype-associated
VAR_054119 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_054120 commonName VAR_054120
VAR_054120 disease phenotype-associated
VAR_054120 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
VAR_054121 commonName VAR_054121
VAR_054121 disease not phenotype-associated
VAR_054122 commonName VAR_054122
VAR_054122 disease not phenotype-associated
VAR_054123 commonName VAR_054123
VAR_054123 disease not phenotype-associated
VAR_054124 commonName VAR_054124
VAR_054124 disease not phenotype-associated
VAR_054125 commonName VAR_054125
VAR_054125 disease not phenotype-associated
VAR_054126 commonName VAR_054126
VAR_054126 disease not phenotype-associated
VAR_054128 commonName VAR_054128
VAR_054128 disease not phenotype-associated
VAR_054129 commonName VAR_054129
VAR_054129 disease not phenotype-associated
VAR_054130 commonName VAR_054130
VAR_054130 disease phenotype-associated
VAR_054130 phenoCommon Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]
VAR_054131 commonName VAR_054131
VAR_054131 disease not phenotype-associated
VAR_054132 commonName VAR_054132
VAR_054132 disease not phenotype-associated
VAR_054133 commonName VAR_054133
VAR_054133 disease not phenotype-associated
VAR_054134 commonName VAR_054134
VAR_054134 disease not phenotype-associated
VAR_054135 commonName VAR_054135
VAR_054135 disease not phenotype-associated
VAR_054136 commonName VAR_054136
VAR_054136 disease not phenotype-associated
VAR_054137 commonName VAR_054137
VAR_054137 disease not phenotype-associated
VAR_054138 commonName VAR_054138
VAR_054138 disease not phenotype-associated
VAR_054144 comment An acute myeloid leukemia sample
VAR_054144 commonName VAR_054144
VAR_054147 comment An acute myeloid leukemia sample
VAR_054147 commonName VAR_054147
VAR_054148 comment An acute myeloid leukemia sample
VAR_054148 commonName VAR_054148
VAR_054149 commonName VAR_054149
VAR_054149 disease not phenotype-associated
VAR_054150 commonName VAR_054150
VAR_054150 disease not phenotype-associated
VAR_054151 commonName VAR_054151
VAR_054151 disease not phenotype-associated
VAR_054152 commonName VAR_054152
VAR_054152 disease not phenotype-associated
VAR_054153 commonName VAR_054153
VAR_054153 disease not phenotype-associated
VAR_054154 commonName VAR_054154
VAR_054154 disease not phenotype-associated
VAR_054157 commonName VAR_054157
VAR_054157 disease not phenotype-associated
VAR_054158 commonName VAR_054158
VAR_054158 disease not phenotype-associated
VAR_054159 commonName VAR_054159
VAR_054159 disease not phenotype-associated
VAR_054160 commonName VAR_054160
VAR_054160 disease not phenotype-associated
VAR_054161 commonName VAR_054161
VAR_054161 disease not phenotype-associated
VAR_054163 commonName VAR_054163
VAR_054163 disease not phenotype-associated
VAR_054164 commonName VAR_054164
VAR_054164 disease phenotype-associated
VAR_054164 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054165 commonName VAR_054165
VAR_054165 disease phenotype-associated
VAR_054165 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054166 commonName VAR_054166
VAR_054166 disease phenotype-associated
VAR_054166 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054167 commonName VAR_054167
VAR_054167 disease phenotype-associated
VAR_054167 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054168 commonName VAR_054168
VAR_054168 disease phenotype-associated
VAR_054168 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054169 commonName VAR_054169
VAR_054169 disease phenotype-associated
VAR_054169 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054170 commonName VAR_054170
VAR_054170 disease phenotype-associated
VAR_054170 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054171 commonName VAR_054171
VAR_054171 disease phenotype-associated
VAR_054171 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054172 commonName VAR_054172
VAR_054172 disease phenotype-associated
VAR_054172 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054174 commonName VAR_054174
VAR_054174 disease phenotype-associated
VAR_054174 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054175 commonName VAR_054175
VAR_054175 disease phenotype-associated
VAR_054175 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054176 commonName VAR_054176
VAR_054176 disease phenotype-associated
VAR_054176 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054177 commonName VAR_054177
VAR_054177 disease phenotype-associated
VAR_054177 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054178 commonName VAR_054178
VAR_054178 disease phenotype-associated
VAR_054178 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054179 commonName VAR_054179
VAR_054179 disease phenotype-associated
VAR_054179 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054180 commonName VAR_054180
VAR_054180 disease phenotype-associated
VAR_054180 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054181 commonName VAR_054181
VAR_054181 disease phenotype-associated
VAR_054181 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054182 commonName VAR_054182
VAR_054182 disease phenotype-associated
VAR_054182 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054183 commonName VAR_054183
VAR_054183 disease phenotype-associated
VAR_054183 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054184 commonName VAR_054184
VAR_054184 disease phenotype-associated
VAR_054184 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054185 commonName VAR_054185
VAR_054185 disease phenotype-associated
VAR_054185 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054186 commonName VAR_054186
VAR_054186 disease phenotype-associated
VAR_054186 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054187 commonName VAR_054187
VAR_054187 disease phenotype-associated
VAR_054187 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054188 commonName VAR_054188
VAR_054188 disease phenotype-associated
VAR_054188 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054189 commonName VAR_054189
VAR_054189 disease phenotype-associated
VAR_054189 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054190 commonName VAR_054190
VAR_054190 disease phenotype-associated
VAR_054190 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054191 commonName VAR_054191
VAR_054191 disease phenotype-associated
VAR_054191 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054192 commonName VAR_054192
VAR_054192 disease phenotype-associated
VAR_054192 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054193 commonName VAR_054193
VAR_054193 disease phenotype-associated
VAR_054193 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054194 commonName VAR_054194
VAR_054194 disease phenotype-associated
VAR_054194 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054195 commonName VAR_054195
VAR_054195 disease phenotype-associated
VAR_054195 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054196 commonName VAR_054196
VAR_054196 disease phenotype-associated
VAR_054196 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054197 commonName VAR_054197
VAR_054197 disease phenotype-associated
VAR_054197 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054198 commonName VAR_054198
VAR_054198 disease phenotype-associated
VAR_054198 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054199 commonName VAR_054199
VAR_054199 disease phenotype-associated
VAR_054199 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054200 commonName VAR_054200
VAR_054200 disease phenotype-associated
VAR_054200 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054201 commonName VAR_054201
VAR_054201 disease phenotype-associated
VAR_054201 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054202 commonName VAR_054202
VAR_054202 disease phenotype-associated
VAR_054202 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054203 commonName VAR_054203
VAR_054203 disease phenotype-associated
VAR_054203 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054204 commonName VAR_054204
VAR_054204 disease phenotype-associated
VAR_054204 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054205 commonName VAR_054205
VAR_054205 disease phenotype-associated
VAR_054205 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054206 commonName VAR_054206
VAR_054206 disease phenotype-associated
VAR_054206 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054207 commonName VAR_054207
VAR_054207 disease phenotype-associated
VAR_054207 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_054212 commonName VAR_054212
VAR_054212 disease not phenotype-associated
VAR_054213 commonName VAR_054213
VAR_054213 disease not phenotype-associated
VAR_054215 commonName VAR_054215
VAR_054215 disease not phenotype-associated
VAR_054216 commonName VAR_054216
VAR_054216 disease not phenotype-associated
VAR_054219 commonName VAR_054219
VAR_054219 disease not phenotype-associated
VAR_054220 commonName VAR_054220
VAR_054220 disease not phenotype-associated
VAR_054221 commonName VAR_054221
VAR_054221 disease not phenotype-associated
VAR_054222 commonName VAR_054222
VAR_054222 disease not phenotype-associated
VAR_054223 commonName VAR_054223
VAR_054223 disease not phenotype-associated
VAR_054224 commonName VAR_054224
VAR_054224 disease not phenotype-associated
VAR_054225 commonName VAR_054225
VAR_054225 disease not phenotype-associated
VAR_054226 commonName VAR_054226
VAR_054226 disease not phenotype-associated
VAR_054227 commonName VAR_054227
VAR_054227 disease phenotype-associated
VAR_054227 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054228 commonName VAR_054228
VAR_054228 disease not phenotype-associated
VAR_054229 commonName VAR_054229
VAR_054229 disease phenotype-associated
VAR_054229 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054230 commonName VAR_054230
VAR_054230 disease phenotype-associated
VAR_054230 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054231 commonName VAR_054231
VAR_054231 disease phenotype-associated
VAR_054231 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054232 commonName VAR_054232
VAR_054232 disease not phenotype-associated
VAR_054233 commonName VAR_054233
VAR_054233 disease phenotype-associated
VAR_054233 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054234 commonName VAR_054234
VAR_054234 disease phenotype-associated
VAR_054234 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054235 commonName VAR_054235
VAR_054235 disease phenotype-associated
VAR_054235 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054236 commonName VAR_054236
VAR_054236 disease not phenotype-associated
VAR_054237 commonName VAR_054237
VAR_054238 commonName VAR_054238
VAR_054238 disease phenotype-associated
VAR_054238 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054239 commonName VAR_054239
VAR_054239 disease phenotype-associated
VAR_054239 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054240 commonName VAR_054240
VAR_054240 disease phenotype-associated
VAR_054240 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054241 commonName VAR_054241
VAR_054241 disease phenotype-associated
VAR_054241 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054242 commonName VAR_054242
VAR_054242 disease phenotype-associated
VAR_054242 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054243 commonName VAR_054243
VAR_054243 disease phenotype-associated
VAR_054243 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054243 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054244 commonName VAR_054244
VAR_054244 disease phenotype-associated
VAR_054244 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054244 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054245 commonName VAR_054245
VAR_054245 disease phenotype-associated
VAR_054245 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054247 commonName VAR_054247
VAR_054247 disease phenotype-associated
VAR_054247 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054248 commonName VAR_054248
VAR_054248 disease phenotype-associated
VAR_054248 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054249 commonName VAR_054249
VAR_054251 commonName VAR_054251
VAR_054251 disease phenotype-associated
VAR_054251 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054253 commonName VAR_054253
VAR_054253 disease phenotype-associated
VAR_054253 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054254 commonName VAR_054254
VAR_054254 disease phenotype-associated
VAR_054254 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054255 commonName VAR_054255
VAR_054255 disease phenotype-associated
VAR_054255 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054256 commonName VAR_054256
VAR_054256 disease phenotype-associated
VAR_054256 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054257 commonName VAR_054257
VAR_054257 disease phenotype-associated
VAR_054257 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054258 commonName VAR_054258
VAR_054258 disease phenotype-associated
VAR_054258 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054259 commonName VAR_054259
VAR_054259 disease not phenotype-associated
VAR_054260 commonName VAR_054260
VAR_054260 disease phenotype-associated
VAR_054260 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054260 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054261 commonName VAR_054261
VAR_054261 disease phenotype-associated
VAR_054261 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054262 commonName VAR_054262
VAR_054262 disease phenotype-associated
VAR_054262 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054263 commonName VAR_054263
VAR_054263 disease phenotype-associated
VAR_054263 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054264 commonName VAR_054264
VAR_054264 disease phenotype-associated
VAR_054264 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054265 commonName VAR_054265
VAR_054265 disease phenotype-associated
VAR_054265 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054266 commonName VAR_054266
VAR_054266 disease not phenotype-associated
VAR_054267 commonName VAR_054267
VAR_054267 disease phenotype-associated
VAR_054267 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054268 commonName VAR_054268
VAR_054268 disease phenotype-associated
VAR_054268 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760]
VAR_054269 commonName VAR_054269
VAR_054269 disease not phenotype-associated
VAR_054270 commonName VAR_054270
VAR_054270 disease not phenotype-associated
VAR_054271 commonName VAR_054271
VAR_054271 disease phenotype-associated
VAR_054271 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054272 commonName VAR_054272
VAR_054272 disease phenotype-associated
VAR_054272 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
VAR_054272 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054273 commonName VAR_054273
VAR_054273 disease not phenotype-associated
VAR_054274 commonName VAR_054274
VAR_054274 disease not phenotype-associated
VAR_054275 commonName VAR_054275
VAR_054275 disease not phenotype-associated
VAR_054276 commonName VAR_054276
VAR_054276 disease not phenotype-associated
VAR_054277 commonName VAR_054277
VAR_054277 disease phenotype-associated
VAR_054277 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054278 commonName VAR_054278
VAR_054278 disease phenotype-associated
VAR_054278 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054279 commonName VAR_054279
VAR_054279 disease not phenotype-associated
VAR_054280 commonName VAR_054280
VAR_054280 disease phenotype-associated
VAR_054280 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054281 commonName VAR_054281
VAR_054281 disease phenotype-associated
VAR_054281 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054282 commonName VAR_054282
VAR_054282 disease phenotype-associated
VAR_054282 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054283 commonName VAR_054283
VAR_054283 disease phenotype-associated
VAR_054283 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054284 commonName VAR_054284
VAR_054284 disease phenotype-associated
VAR_054284 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054285 commonName VAR_054285
VAR_054286 commonName VAR_054286
VAR_054286 disease phenotype-associated
VAR_054286 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054287 commonName VAR_054287
VAR_054287 disease phenotype-associated
VAR_054287 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054288 commonName VAR_054288
VAR_054288 disease phenotype-associated
VAR_054288 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054289 commonName VAR_054289
VAR_054289 disease phenotype-associated
VAR_054289 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054290 commonName VAR_054290
VAR_054290 disease phenotype-associated
VAR_054290 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054291 commonName VAR_054291
VAR_054291 disease phenotype-associated
VAR_054291 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054292 commonName VAR_054292
VAR_054292 disease phenotype-associated
VAR_054292 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054293 commonName VAR_054293
VAR_054293 disease phenotype-associated
VAR_054293 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054294 commonName VAR_054294
VAR_054294 disease phenotype-associated
VAR_054294 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054295 commonName VAR_054295
VAR_054295 disease phenotype-associated
VAR_054295 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054296 commonName VAR_054296
VAR_054296 disease phenotype-associated
VAR_054296 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054297 commonName VAR_054297
VAR_054297 disease phenotype-associated
VAR_054297 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054298 commonName VAR_054298
VAR_054298 disease phenotype-associated
VAR_054298 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054299 commonName VAR_054299
VAR_054299 disease phenotype-associated
VAR_054299 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054300 commonName VAR_054300
VAR_054300 disease phenotype-associated
VAR_054300 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054301 commonName VAR_054301
VAR_054301 disease not phenotype-associated
VAR_054302 commonName VAR_054302
VAR_054302 disease phenotype-associated
VAR_054302 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054303 commonName VAR_054303
VAR_054303 disease phenotype-associated
VAR_054303 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054304 commonName VAR_054304
VAR_054304 disease phenotype-associated
VAR_054304 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054305 commonName VAR_054305
VAR_054305 disease phenotype-associated
VAR_054305 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054306 commonName VAR_054306
VAR_054306 disease phenotype-associated
VAR_054306 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054307 commonName VAR_054307
VAR_054307 disease not phenotype-associated
VAR_054308 commonName VAR_054308
VAR_054308 disease phenotype-associated
VAR_054308 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054309 commonName VAR_054309
VAR_054309 disease phenotype-associated
VAR_054309 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
VAR_054310 commonName VAR_054310
VAR_054310 disease not phenotype-associated
VAR_054311 commonName VAR_054311
VAR_054311 disease not phenotype-associated
VAR_054314 commonName VAR_054314
VAR_054314 disease not phenotype-associated
VAR_054315 commonName VAR_054315
VAR_054315 disease not phenotype-associated
VAR_054316 commonName VAR_054316
VAR_054316 disease not phenotype-associated
VAR_054317 commonName VAR_054317
VAR_054317 disease not phenotype-associated
VAR_054318 commonName VAR_054318
VAR_054318 disease not phenotype-associated
VAR_054319 commonName VAR_054319
VAR_054319 disease not phenotype-associated
VAR_054320 commonName VAR_054320
VAR_054320 disease not phenotype-associated
VAR_054321 commonName VAR_054321
VAR_054321 disease not phenotype-associated
VAR_054322 commonName VAR_054322
VAR_054322 disease not phenotype-associated
VAR_054323 commonName VAR_054323
VAR_054323 disease not phenotype-associated
VAR_054324 commonName VAR_054324
VAR_054324 disease not phenotype-associated
VAR_054325 commonName VAR_054325
VAR_054325 disease not phenotype-associated
VAR_054326 commonName VAR_054326
VAR_054326 disease not phenotype-associated
VAR_054327 commonName VAR_054327
VAR_054327 disease not phenotype-associated
VAR_054328 commonName VAR_054328
VAR_054328 disease not phenotype-associated
VAR_054329 commonName VAR_054329
VAR_054329 disease not phenotype-associated
VAR_054330 commonName VAR_054330
VAR_054330 disease not phenotype-associated
VAR_054331 commonName VAR_054331
VAR_054331 disease not phenotype-associated
VAR_054332 commonName VAR_054332
VAR_054332 disease not phenotype-associated
VAR_054333 commonName VAR_054333
VAR_054333 disease not phenotype-associated
VAR_054334 commonName VAR_054334
VAR_054334 disease not phenotype-associated
VAR_054335 commonName VAR_054335
VAR_054335 disease not phenotype-associated
VAR_054337 commonName VAR_054337
VAR_054337 disease not phenotype-associated
VAR_054339 commonName VAR_054339
VAR_054339 disease not phenotype-associated
VAR_054340 commonName VAR_054340
VAR_054340 disease not phenotype-associated
VAR_054341 commonName VAR_054341
VAR_054341 disease not phenotype-associated
VAR_054342 commonName VAR_054342
VAR_054342 disease not phenotype-associated
VAR_054343 commonName VAR_054343
VAR_054343 disease not phenotype-associated
VAR_054344 commonName VAR_054344
VAR_054344 disease not phenotype-associated
VAR_054345 commonName VAR_054345
VAR_054345 disease not phenotype-associated
VAR_054346 commonName VAR_054346
VAR_054346 disease not phenotype-associated
VAR_054347 commonName VAR_054347
VAR_054347 disease not phenotype-associated
VAR_054348 commonName VAR_054348
VAR_054348 disease not phenotype-associated
VAR_054349 commonName VAR_054349
VAR_054349 disease not phenotype-associated
VAR_054350 commonName VAR_054350
VAR_054350 disease not phenotype-associated
VAR_054351 commonName VAR_054351
VAR_054351 disease not phenotype-associated
VAR_054352 commonName VAR_054352
VAR_054352 disease not phenotype-associated
VAR_054353 commonName VAR_054353
VAR_054353 disease not phenotype-associated
VAR_054354 commonName VAR_054354
VAR_054354 disease not phenotype-associated
VAR_054355 commonName VAR_054355
VAR_054355 disease not phenotype-associated
VAR_054356 commonName VAR_054356
VAR_054356 disease not phenotype-associated
VAR_054357 commonName VAR_054357
VAR_054357 disease not phenotype-associated
VAR_054358 commonName VAR_054358
VAR_054358 disease not phenotype-associated
VAR_054359 commonName VAR_054359
VAR_054359 disease not phenotype-associated
VAR_054360 commonName VAR_054360
VAR_054360 disease not phenotype-associated
VAR_054361 commonName VAR_054361
VAR_054361 disease not phenotype-associated
VAR_054362 commonName VAR_054362
VAR_054362 disease not phenotype-associated
VAR_054363 commonName VAR_054363
VAR_054363 disease not phenotype-associated
VAR_054364 commonName VAR_054364
VAR_054364 disease not phenotype-associated
VAR_054365 commonName VAR_054365
VAR_054365 disease not phenotype-associated
VAR_054366 commonName VAR_054366
VAR_054366 disease not phenotype-associated
VAR_054369 commonName VAR_054369
VAR_054369 disease not phenotype-associated
VAR_054371 commonName VAR_054371
VAR_054371 disease phenotype-associated
VAR_054371 phenoCommon Joubert syndrome type 8 (JBTS8) [MIM:612291]
VAR_054372 commonName VAR_054372
VAR_054372 disease phenotype-associated
VAR_054372 phenoCommon Joubert syndrome type 8 (JBTS8) [MIM:612291]
VAR_054373 commonName VAR_054373
VAR_054373 disease phenotype-associated
VAR_054373 phenoCommon Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]
VAR_054374 commonName VAR_054374
VAR_054374 disease not phenotype-associated
VAR_054375 commonName VAR_054375
VAR_054375 disease not phenotype-associated
VAR_054376 commonName VAR_054376
VAR_054376 disease phenotype-associated
VAR_054376 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054377 commonName VAR_054377
VAR_054377 disease phenotype-associated
VAR_054377 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310]
VAR_054377 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054378 commonName VAR_054378
VAR_054378 disease phenotype-associated
VAR_054378 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054379 commonName VAR_054379
VAR_054379 disease phenotype-associated
VAR_054379 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054380 commonName VAR_054380
VAR_054380 disease phenotype-associated
VAR_054380 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054381 commonName VAR_054381
VAR_054381 disease phenotype-associated
VAR_054381 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054382 commonName VAR_054382
VAR_054382 disease not phenotype-associated
VAR_054383 commonName VAR_054383
VAR_054383 disease phenotype-associated
VAR_054383 phenoCommon Pheochromocytoma (PCC) [MIM:171300]
VAR_054384 commonName VAR_054384
VAR_054385 commonName VAR_054385
VAR_054385 disease phenotype-associated
VAR_054385 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000]
VAR_054386 comment A bladder tumor
VAR_054386 commonName VAR_054386
VAR_054387 commonName VAR_054387
VAR_054387 disease phenotype-associated
VAR_054387 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100]
VAR_054388 comment A bladder tumor
VAR_054388 commonName VAR_054388
VAR_054389 comment A bladder tumor
VAR_054389 commonName VAR_054389
VAR_054390 comment A bladder tumor
VAR_054390 commonName VAR_054390
VAR_054391 commonName VAR_054391
VAR_054391 disease phenotype-associated
VAR_054391 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100]
VAR_054392 commonName VAR_054392
VAR_054392 disease not phenotype-associated
VAR_054393 commonName VAR_054393
VAR_054393 disease phenotype-associated
VAR_054393 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_054396 commonName VAR_054396
VAR_054397 commonName VAR_054397
VAR_054397 disease phenotype-associated
VAR_054397 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_054398 commonName VAR_054398
VAR_054398 disease phenotype-associated
VAR_054398 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
VAR_054400 commonName VAR_054400
VAR_054400 disease not phenotype-associated
VAR_054401 commonName VAR_054401
VAR_054409 commonName VAR_054409
VAR_054409 disease not phenotype-associated
VAR_054410 commonName VAR_054410
VAR_054410 disease not phenotype-associated
VAR_054412 commonName VAR_054412
VAR_054412 disease not phenotype-associated
VAR_054413 commonName VAR_054413
VAR_054413 disease not phenotype-associated
VAR_054414 commonName VAR_054414
VAR_054414 disease not phenotype-associated
VAR_054416 commonName VAR_054416
VAR_054416 disease not phenotype-associated
VAR_054417 commonName VAR_054417
VAR_054417 disease not phenotype-associated
VAR_054419 commonName VAR_054419
VAR_054419 disease not phenotype-associated
VAR_054420 commonName VAR_054420
VAR_054420 disease not phenotype-associated
VAR_054421 commonName VAR_054421
VAR_054421 disease not phenotype-associated
VAR_054422 commonName VAR_054422
VAR_054422 disease not phenotype-associated
VAR_054423 commonName VAR_054423
VAR_054423 disease not phenotype-associated
VAR_054424 commonName VAR_054424
VAR_054424 disease not phenotype-associated
VAR_054425 commonName VAR_054425
VAR_054425 disease not phenotype-associated
VAR_054426 commonName VAR_054426
VAR_054426 disease not phenotype-associated
VAR_054427 commonName VAR_054427
VAR_054427 disease not phenotype-associated
VAR_054428 commonName VAR_054428
VAR_054428 disease not phenotype-associated
VAR_054429 commonName VAR_054429
VAR_054429 disease not phenotype-associated
VAR_054430 commonName VAR_054430
VAR_054430 disease not phenotype-associated
VAR_054431 commonName VAR_054431
VAR_054431 disease not phenotype-associated
VAR_054432 commonName VAR_054432
VAR_054432 disease not phenotype-associated
VAR_054433 commonName VAR_054433
VAR_054433 disease not phenotype-associated
VAR_054434 commonName VAR_054434
VAR_054434 disease not phenotype-associated
VAR_054435 commonName VAR_054435
VAR_054435 disease not phenotype-associated
VAR_054436 commonName VAR_054436
VAR_054436 disease not phenotype-associated
VAR_054437 commonName VAR_054437
VAR_054437 disease not phenotype-associated
VAR_054438 commonName VAR_054438
VAR_054438 disease not phenotype-associated
VAR_054439 commonName VAR_054439
VAR_054439 disease phenotype-associated
VAR_054439 phenoCommon Weill-Marchesani syndrome autosomal recessive (ARWMS) [MIM:277600]
VAR_054440 commonName VAR_054440
VAR_054440 disease not phenotype-associated
VAR_054441 commonName VAR_054441
VAR_054441 disease not phenotype-associated
VAR_054442 commonName VAR_054442
VAR_054442 disease phenotype-associated
VAR_054442 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
VAR_054443 commonName VAR_054443
VAR_054444 commonName VAR_054444
VAR_054444 disease phenotype-associated
VAR_054444 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054445 commonName VAR_054445
VAR_054445 disease phenotype-associated
VAR_054445 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054446 commonName VAR_054446
VAR_054446 disease phenotype-associated
VAR_054446 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054447 commonName VAR_054447
VAR_054447 disease phenotype-associated
VAR_054447 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054448 commonName VAR_054448
VAR_054448 disease phenotype-associated
VAR_054448 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054449 commonName VAR_054449
VAR_054449 disease phenotype-associated
VAR_054449 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054450 commonName VAR_054450
VAR_054450 disease phenotype-associated
VAR_054450 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054451 commonName VAR_054451
VAR_054451 disease phenotype-associated
VAR_054451 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054452 commonName VAR_054452
VAR_054452 disease phenotype-associated
VAR_054452 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054453 commonName VAR_054453
VAR_054453 disease phenotype-associated
VAR_054453 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054454 commonName VAR_054454
VAR_054454 disease phenotype-associated
VAR_054454 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054455 commonName VAR_054455
VAR_054455 disease phenotype-associated
VAR_054455 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054456 commonName VAR_054456
VAR_054456 disease phenotype-associated
VAR_054456 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054460 commonName VAR_054460
VAR_054460 disease phenotype-associated
VAR_054460 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054462 commonName VAR_054462
VAR_054462 disease phenotype-associated
VAR_054462 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054463 commonName VAR_054463
VAR_054463 disease phenotype-associated
VAR_054463 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054464 commonName VAR_054464
VAR_054464 disease phenotype-associated
VAR_054464 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054466 commonName VAR_054466
VAR_054466 disease phenotype-associated
VAR_054466 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054467 commonName VAR_054467
VAR_054467 disease phenotype-associated
VAR_054467 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054468 commonName VAR_054468
VAR_054468 disease phenotype-associated
VAR_054468 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054469 commonName VAR_054469
VAR_054469 disease phenotype-associated
VAR_054469 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054470 commonName VAR_054470
VAR_054470 disease phenotype-associated
VAR_054470 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054471 commonName VAR_054471
VAR_054471 disease phenotype-associated
VAR_054471 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054472 commonName VAR_054472
VAR_054472 disease phenotype-associated
VAR_054472 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054473 commonName VAR_054473
VAR_054473 disease phenotype-associated
VAR_054473 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054474 commonName VAR_054474
VAR_054474 disease phenotype-associated
VAR_054474 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054475 commonName VAR_054475
VAR_054475 disease phenotype-associated
VAR_054475 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054476 commonName VAR_054476
VAR_054476 disease phenotype-associated
VAR_054476 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_054477 commonName VAR_054477
VAR_054477 disease not phenotype-associated
VAR_054478 commonName VAR_054478
VAR_054478 disease not phenotype-associated
VAR_054479 commonName VAR_054479
VAR_054479 disease not phenotype-associated
VAR_054480 commonName VAR_054480
VAR_054480 disease not phenotype-associated
VAR_054481 commonName VAR_054481
VAR_054481 disease not phenotype-associated
VAR_054482 commonName VAR_054482
VAR_054482 disease not phenotype-associated
VAR_054484 commonName VAR_054484
VAR_054484 disease not phenotype-associated
VAR_054485 commonName VAR_054485
VAR_054485 disease not phenotype-associated
VAR_054486 commonName VAR_054486
VAR_054486 disease not phenotype-associated
VAR_054487 commonName VAR_054487
VAR_054487 disease not phenotype-associated
VAR_054488 commonName VAR_054488
VAR_054488 disease not phenotype-associated
VAR_054489 commonName VAR_054489
VAR_054489 disease not phenotype-associated
VAR_054490 commonName VAR_054490
VAR_054490 disease not phenotype-associated
VAR_054491 commonName VAR_054491
VAR_054491 disease not phenotype-associated
VAR_054492 commonName VAR_054492
VAR_054492 disease not phenotype-associated
VAR_054493 commonName VAR_054493
VAR_054493 disease not phenotype-associated
VAR_054494 commonName VAR_054494
VAR_054494 disease not phenotype-associated
VAR_054495 commonName VAR_054495
VAR_054495 disease not phenotype-associated
VAR_054496 commonName VAR_054496
VAR_054496 disease not phenotype-associated
VAR_054497 commonName VAR_054497
VAR_054497 disease not phenotype-associated
VAR_054498 commonName VAR_054498
VAR_054498 disease not phenotype-associated
VAR_054499 commonName VAR_054499
VAR_054499 disease phenotype-associated
VAR_054499 phenoCommon Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]
VAR_054500 commonName VAR_054500
VAR_054500 disease not phenotype-associated
VAR_054501 commonName VAR_054501
VAR_054501 disease not phenotype-associated
VAR_054502 commonName VAR_054502
VAR_054502 disease not phenotype-associated
VAR_054503 commonName VAR_054503
VAR_054503 disease not phenotype-associated
VAR_054504 commonName VAR_054504
VAR_054504 disease not phenotype-associated
VAR_054505 commonName VAR_054505
VAR_054505 disease not phenotype-associated
VAR_054506 commonName VAR_054506
VAR_054506 disease not phenotype-associated
VAR_054507 commonName VAR_054507
VAR_054507 disease not phenotype-associated
VAR_054508 commonName VAR_054508
VAR_054508 disease not phenotype-associated
VAR_054509 commonName VAR_054509
VAR_054509 disease not phenotype-associated
VAR_054510 commonName VAR_054510
VAR_054510 disease phenotype-associated
VAR_054510 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_054511 commonName VAR_054511
VAR_054511 disease phenotype-associated
VAR_054511 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_054512 commonName VAR_054512
VAR_054512 disease phenotype-associated
VAR_054512 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_054513 commonName VAR_054513
VAR_054513 disease phenotype-associated
VAR_054513 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_054514 commonName VAR_054514
VAR_054515 commonName VAR_054515
VAR_054516 commonName VAR_054516
VAR_054517 commonName VAR_054517
VAR_054518 commonName VAR_054518
VAR_054519 commonName VAR_054519
VAR_054522 commonName VAR_054522
VAR_054523 commonName VAR_054523
VAR_054524 commonName VAR_054524
VAR_054525 commonName VAR_054525
VAR_054526 commonName VAR_054526
VAR_054527 commonName VAR_054527
VAR_054528 commonName VAR_054528
VAR_054529 commonName VAR_054529
VAR_054530 commonName VAR_054530
VAR_054531 commonName VAR_054531
VAR_054532 commonName VAR_054532
VAR_054533 commonName VAR_054533
VAR_054534 commonName VAR_054534
VAR_054535 commonName VAR_054535
VAR_054536 commonName VAR_054536
VAR_054537 commonName VAR_054537
VAR_054538 commonName VAR_054538
VAR_054539 commonName VAR_054539
VAR_054539 disease not phenotype-associated
VAR_054540 commonName VAR_054540
VAR_054540 disease not phenotype-associated
VAR_054541 commonName VAR_054541
VAR_054541 disease not phenotype-associated
VAR_054542 commonName VAR_054542
VAR_054542 disease not phenotype-associated
VAR_054543 commonName VAR_054543
VAR_054543 disease not phenotype-associated
VAR_054544 commonName VAR_054544
VAR_054544 disease not phenotype-associated
VAR_054545 commonName VAR_054545
VAR_054545 disease not phenotype-associated
VAR_054546 commonName VAR_054546
VAR_054546 disease not phenotype-associated
VAR_054547 commonName VAR_054547
VAR_054547 disease not phenotype-associated
VAR_054548 commonName VAR_054548
VAR_054548 disease not phenotype-associated
VAR_054549 commonName VAR_054549
VAR_054549 disease not phenotype-associated
VAR_054550 commonName VAR_054550
VAR_054550 disease not phenotype-associated
VAR_054551 commonName VAR_054551
VAR_054551 disease not phenotype-associated
VAR_054552 commonName VAR_054552
VAR_054552 disease not phenotype-associated
VAR_054553 commonName VAR_054553
VAR_054553 disease not phenotype-associated
VAR_054554 commonName VAR_054554
VAR_054554 disease not phenotype-associated
VAR_054555 commonName VAR_054555
VAR_054555 disease phenotype-associated
VAR_054555 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902]
VAR_054556 commonName VAR_054556
VAR_054556 disease phenotype-associated
VAR_054556 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902]
VAR_054557 commonName VAR_054557
VAR_054557 disease phenotype-associated
VAR_054557 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054558 commonName VAR_054558
VAR_054558 disease phenotype-associated
VAR_054558 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054559 commonName VAR_054559
VAR_054559 disease phenotype-associated
VAR_054559 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054560 commonName VAR_054560
VAR_054560 disease phenotype-associated
VAR_054560 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054561 commonName VAR_054561
VAR_054561 disease phenotype-associated
VAR_054561 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054562 commonName VAR_054562
VAR_054562 disease phenotype-associated
VAR_054562 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054563 commonName VAR_054563
VAR_054563 disease phenotype-associated
VAR_054563 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054564 commonName VAR_054564
VAR_054564 disease phenotype-associated
VAR_054564 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054565 commonName VAR_054565
VAR_054565 disease phenotype-associated
VAR_054565 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054566 commonName VAR_054566
VAR_054566 disease not phenotype-associated
VAR_054567 commonName VAR_054567
VAR_054567 disease phenotype-associated
VAR_054567 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054568 commonName VAR_054568
VAR_054568 disease phenotype-associated
VAR_054568 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054569 commonName VAR_054569
VAR_054569 disease not phenotype-associated
VAR_054570 commonName VAR_054570
VAR_054570 disease phenotype-associated
VAR_054570 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054571 commonName VAR_054571
VAR_054571 disease phenotype-associated
VAR_054571 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054572 commonName VAR_054572
VAR_054572 disease phenotype-associated
VAR_054572 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054574 commonName VAR_054574
VAR_054574 disease not phenotype-associated
VAR_054575 commonName VAR_054575
VAR_054575 disease phenotype-associated
VAR_054575 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_054576 commonName VAR_054576
VAR_054576 disease phenotype-associated
VAR_054576 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_054577 commonName VAR_054577
VAR_054577 disease not phenotype-associated
VAR_054578 commonName VAR_054578
VAR_054578 disease phenotype-associated
VAR_054578 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054579 commonName VAR_054579
VAR_054579 disease phenotype-associated
VAR_054579 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054580 commonName VAR_054580
VAR_054580 disease not phenotype-associated
VAR_054581 commonName VAR_054581
VAR_054581 disease phenotype-associated
VAR_054581 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_054582 commonName VAR_054582
VAR_054582 disease not phenotype-associated
VAR_054583 commonName VAR_054583
VAR_054583 disease not phenotype-associated
VAR_054584 commonName VAR_054584
VAR_054584 disease phenotype-associated
VAR_054584 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054585 commonName VAR_054585
VAR_054585 disease not phenotype-associated
VAR_054586 commonName VAR_054586
VAR_054586 disease not phenotype-associated
VAR_054587 commonName VAR_054587
VAR_054587 disease not phenotype-associated
VAR_054588 commonName VAR_054588
VAR_054588 disease phenotype-associated
VAR_054588 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054590 commonName VAR_054590
VAR_054590 disease not phenotype-associated
VAR_054591 commonName VAR_054591
VAR_054591 disease phenotype-associated
VAR_054591 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054592 commonName VAR_054592
VAR_054592 disease not phenotype-associated
VAR_054593 commonName VAR_054593
VAR_054593 disease phenotype-associated
VAR_054593 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054594 commonName VAR_054594
VAR_054594 disease not phenotype-associated
VAR_054595 commonName VAR_054595
VAR_054595 disease not phenotype-associated
VAR_054596 commonName VAR_054596
VAR_054596 disease not phenotype-associated
VAR_054597 commonName VAR_054597
VAR_054597 disease phenotype-associated
VAR_054597 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054598 commonName VAR_054598
VAR_054598 disease phenotype-associated
VAR_054598 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054599 commonName VAR_054599
VAR_054599 disease phenotype-associated
VAR_054599 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054600 commonName VAR_054600
VAR_054600 disease phenotype-associated
VAR_054600 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054602 commonName VAR_054602
VAR_054602 disease phenotype-associated
VAR_054602 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054603 commonName VAR_054603
VAR_054603 disease phenotype-associated
VAR_054603 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054604 commonName VAR_054604
VAR_054604 disease phenotype-associated
VAR_054604 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054605 commonName VAR_054605
VAR_054605 disease not phenotype-associated
VAR_054606 commonName VAR_054606
VAR_054606 disease not phenotype-associated
VAR_054607 commonName VAR_054607
VAR_054607 disease not phenotype-associated
VAR_054608 commonName VAR_054608
VAR_054608 disease phenotype-associated
VAR_054608 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054609 commonName VAR_054609
VAR_054609 disease phenotype-associated
VAR_054609 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054610 commonName VAR_054610
VAR_054610 disease phenotype-associated
VAR_054610 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054611 commonName VAR_054611
VAR_054611 disease phenotype-associated
VAR_054611 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054612 commonName VAR_054612
VAR_054612 disease phenotype-associated
VAR_054612 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054613 commonName VAR_054613
VAR_054613 disease not phenotype-associated
VAR_054614 commonName VAR_054614
VAR_054614 disease phenotype-associated
VAR_054614 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054615 commonName VAR_054615
VAR_054615 disease phenotype-associated
VAR_054615 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054616 commonName VAR_054616
VAR_054616 disease phenotype-associated
VAR_054616 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054617 commonName VAR_054617
VAR_054617 disease not phenotype-associated
VAR_054618 commonName VAR_054618
VAR_054618 disease phenotype-associated
VAR_054618 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054619 commonName VAR_054619
VAR_054619 disease phenotype-associated
VAR_054619 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901]
VAR_054620 commonName VAR_054620
VAR_054620 disease not phenotype-associated
VAR_054621 commonName VAR_054621
VAR_054621 disease not phenotype-associated
VAR_054622 commonName VAR_054622
VAR_054622 disease not phenotype-associated
VAR_054623 commonName VAR_054623
VAR_054623 disease phenotype-associated
VAR_054623 phenoCommon Kallmann syndrome type 5 (KAL5) [MIM:612370]
VAR_054624 commonName VAR_054624
VAR_054624 disease phenotype-associated
VAR_054624 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_054625 commonName VAR_054625
VAR_054625 disease not phenotype-associated
VAR_054626 commonName VAR_054626
VAR_054626 disease phenotype-associated
VAR_054626 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_054627 commonName VAR_054627
VAR_054627 disease phenotype-associated
VAR_054627 phenoCommon Kallmann syndrome type 5 (KAL5) [MIM:612370]
VAR_054628 commonName VAR_054628
VAR_054628 disease phenotype-associated
VAR_054628 phenoCommon Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]
VAR_054629 commonName VAR_054629
VAR_054629 disease phenotype-associated
VAR_054629 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000]
VAR_054630 commonName VAR_054630
VAR_054630 disease phenotype-associated
VAR_054630 phenoCommon Reticular dysgenesis (RDYS) [MIM:267500]
VAR_054631 commonName VAR_054631
VAR_054631 disease phenotype-associated
VAR_054631 phenoCommon Reticular dysgenesis (RDYS) [MIM:267500]
VAR_054632 commonName VAR_054632
VAR_054632 disease not phenotype-associated
VAR_054633 commonName VAR_054633
VAR_054633 disease not phenotype-associated
VAR_054634 commonName VAR_054634
VAR_054634 disease not phenotype-associated
VAR_054635 commonName VAR_054635
VAR_054635 disease not phenotype-associated
VAR_054636 commonName VAR_054636
VAR_054636 disease not phenotype-associated
VAR_054637 commonName VAR_054637
VAR_054637 disease not phenotype-associated
VAR_054638 commonName VAR_054638
VAR_054638 disease not phenotype-associated
VAR_054639 commonName VAR_054639
VAR_054639 disease not phenotype-associated
VAR_054640 commonName VAR_054640
VAR_054640 disease not phenotype-associated
VAR_054641 commonName VAR_054641
VAR_054641 disease not phenotype-associated
VAR_054646 commonName VAR_054646
VAR_054646 disease not phenotype-associated
VAR_054647 commonName VAR_054647
VAR_054647 disease not phenotype-associated
VAR_054648 commonName VAR_054648
VAR_054648 disease not phenotype-associated
VAR_054649 commonName VAR_054649
VAR_054649 disease not phenotype-associated
VAR_054650 commonName VAR_054650
VAR_054650 disease not phenotype-associated
VAR_054651 commonName VAR_054651
VAR_054651 disease not phenotype-associated
VAR_054652 commonName VAR_054652
VAR_054652 disease not phenotype-associated
VAR_054653 commonName VAR_054653
VAR_054653 disease not phenotype-associated
VAR_054654 commonName VAR_054654
VAR_054654 disease not phenotype-associated
VAR_054655 commonName VAR_054655
VAR_054655 disease not phenotype-associated
VAR_054656 commonName VAR_054656
VAR_054656 disease not phenotype-associated
VAR_054657 commonName VAR_054657
VAR_054657 disease not phenotype-associated
VAR_054660 commonName VAR_054660
VAR_054660 disease not phenotype-associated
VAR_054661 commonName VAR_054661
VAR_054661 disease not phenotype-associated
VAR_054663 commonName VAR_054663
VAR_054663 disease phenotype-associated
VAR_054663 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]
VAR_054664 commonName VAR_054664
VAR_054664 disease not phenotype-associated
VAR_054665 commonName VAR_054665
VAR_054665 disease not phenotype-associated
VAR_054666 commonName VAR_054666
VAR_054666 disease not phenotype-associated
VAR_054667 commonName VAR_054667
VAR_054667 disease not phenotype-associated
VAR_054668 commonName VAR_054668
VAR_054668 disease not phenotype-associated
VAR_054669 commonName VAR_054669
VAR_054669 disease not phenotype-associated
VAR_054670 commonName VAR_054670
VAR_054670 disease phenotype-associated
VAR_054670 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054671 commonName VAR_054671
VAR_054671 disease phenotype-associated
VAR_054671 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054672 commonName VAR_054672
VAR_054672 disease phenotype-associated
VAR_054672 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054673 commonName VAR_054673
VAR_054673 disease phenotype-associated
VAR_054673 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054674 commonName VAR_054674
VAR_054674 disease phenotype-associated
VAR_054674 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054675 commonName VAR_054675
VAR_054675 disease phenotype-associated
VAR_054675 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054676 commonName VAR_054676
VAR_054676 disease phenotype-associated
VAR_054676 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054677 commonName VAR_054677
VAR_054677 disease phenotype-associated
VAR_054677 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054678 commonName VAR_054678
VAR_054678 disease phenotype-associated
VAR_054678 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054679 commonName VAR_054679
VAR_054679 disease phenotype-associated
VAR_054679 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054680 commonName VAR_054680
VAR_054680 disease phenotype-associated
VAR_054680 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054681 commonName VAR_054681
VAR_054681 disease phenotype-associated
VAR_054681 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054682 commonName VAR_054682
VAR_054682 disease phenotype-associated
VAR_054682 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054683 commonName VAR_054683
VAR_054683 disease phenotype-associated
VAR_054683 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054684 commonName VAR_054684
VAR_054684 disease phenotype-associated
VAR_054684 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054685 commonName VAR_054685
VAR_054685 disease phenotype-associated
VAR_054685 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
VAR_054699 commonName VAR_054699
VAR_054699 disease phenotype-associated
VAR_054699 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054700 commonName VAR_054700
VAR_054700 disease phenotype-associated
VAR_054700 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054701 commonName VAR_054701
VAR_054701 disease phenotype-associated
VAR_054701 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054702 commonName VAR_054702
VAR_054702 disease phenotype-associated
VAR_054702 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054703 commonName VAR_054703
VAR_054703 disease phenotype-associated
VAR_054703 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054704 commonName VAR_054704
VAR_054704 disease phenotype-associated
VAR_054704 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054705 commonName VAR_054705
VAR_054705 disease phenotype-associated
VAR_054705 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054706 commonName VAR_054706
VAR_054706 disease phenotype-associated
VAR_054706 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054707 commonName VAR_054707
VAR_054707 disease phenotype-associated
VAR_054707 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054708 commonName VAR_054708
VAR_054708 disease phenotype-associated
VAR_054708 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054709 commonName VAR_054709
VAR_054709 disease phenotype-associated
VAR_054709 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054710 commonName VAR_054710
VAR_054710 disease phenotype-associated
VAR_054710 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054711 commonName VAR_054711
VAR_054711 disease phenotype-associated
VAR_054711 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054712 commonName VAR_054712
VAR_054712 disease phenotype-associated
VAR_054712 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054713 commonName VAR_054713
VAR_054713 disease phenotype-associated
VAR_054713 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054714 commonName VAR_054714
VAR_054714 disease phenotype-associated
VAR_054714 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054715 commonName VAR_054715
VAR_054715 disease phenotype-associated
VAR_054715 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054716 commonName VAR_054716
VAR_054716 disease phenotype-associated
VAR_054716 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054717 commonName VAR_054717
VAR_054717 disease phenotype-associated
VAR_054717 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054718 commonName VAR_054718
VAR_054718 disease phenotype-associated
VAR_054718 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054719 commonName VAR_054719
VAR_054719 disease phenotype-associated
VAR_054719 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054720 commonName VAR_054720
VAR_054720 disease phenotype-associated
VAR_054720 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054721 commonName VAR_054721
VAR_054721 disease phenotype-associated
VAR_054721 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054722 commonName VAR_054722
VAR_054722 disease phenotype-associated
VAR_054722 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054723 commonName VAR_054723
VAR_054723 disease phenotype-associated
VAR_054723 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054724 commonName VAR_054724
VAR_054724 disease phenotype-associated
VAR_054724 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054725 commonName VAR_054725
VAR_054725 disease phenotype-associated
VAR_054725 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054726 commonName VAR_054726
VAR_054726 disease phenotype-associated
VAR_054726 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054727 commonName VAR_054727
VAR_054727 disease phenotype-associated
VAR_054727 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054728 commonName VAR_054728
VAR_054728 disease phenotype-associated
VAR_054728 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054729 commonName VAR_054729
VAR_054729 disease phenotype-associated
VAR_054729 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054730 commonName VAR_054730
VAR_054730 disease phenotype-associated
VAR_054730 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054731 commonName VAR_054731
VAR_054731 disease phenotype-associated
VAR_054731 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054732 commonName VAR_054732
VAR_054732 disease phenotype-associated
VAR_054732 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054733 commonName VAR_054733
VAR_054733 disease phenotype-associated
VAR_054733 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054734 commonName VAR_054734
VAR_054734 disease phenotype-associated
VAR_054734 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054735 commonName VAR_054735
VAR_054735 disease phenotype-associated
VAR_054735 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054736 commonName VAR_054736
VAR_054736 disease phenotype-associated
VAR_054736 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054737 commonName VAR_054737
VAR_054737 disease phenotype-associated
VAR_054737 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054738 commonName VAR_054738
VAR_054738 disease phenotype-associated
VAR_054738 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054739 commonName VAR_054739
VAR_054739 disease phenotype-associated
VAR_054739 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
VAR_054740 commonName VAR_054740
VAR_054740 disease not phenotype-associated
VAR_054741 commonName VAR_054741
VAR_054741 disease phenotype-associated
VAR_054741 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060]
VAR_054742 commonName VAR_054742
VAR_054742 disease not phenotype-associated
VAR_054743 commonName VAR_054743
VAR_054743 disease not phenotype-associated
VAR_054752 commonName VAR_054752
VAR_054752 disease not phenotype-associated
VAR_054753 commonName VAR_054753
VAR_054753 disease not phenotype-associated
VAR_054754 commonName VAR_054754
VAR_054754 disease not phenotype-associated
VAR_054755 commonName VAR_054755
VAR_054755 disease phenotype-associated
VAR_054755 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054756 commonName VAR_054756
VAR_054756 disease phenotype-associated
VAR_054756 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054757 commonName VAR_054757
VAR_054757 disease phenotype-associated
VAR_054757 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054757 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_054758 commonName VAR_054758
VAR_054758 disease phenotype-associated
VAR_054758 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054759 commonName VAR_054759
VAR_054759 disease phenotype-associated
VAR_054759 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054761 commonName VAR_054761
VAR_054761 disease phenotype-associated
VAR_054761 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_054763 commonName VAR_054763
VAR_054763 disease phenotype-associated
VAR_054763 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_054764 commonName VAR_054764
VAR_054764 disease phenotype-associated
VAR_054764 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_054765 commonName VAR_054765
VAR_054765 disease not phenotype-associated
VAR_054766 commonName VAR_054766
VAR_054766 disease not phenotype-associated
VAR_054767 commonName VAR_054767
VAR_054767 disease not phenotype-associated
VAR_054768 commonName VAR_054768
VAR_054768 disease not phenotype-associated
VAR_054769 commonName VAR_054769
VAR_054769 disease not phenotype-associated
VAR_054774 commonName VAR_054774
VAR_054774 disease not phenotype-associated
VAR_054775 commonName VAR_054775
VAR_054775 disease phenotype-associated
VAR_054775 phenoCommon Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]
VAR_054776 commonName VAR_054776
VAR_054776 disease phenotype-associated
VAR_054776 phenoCommon Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]
VAR_054777 commonName VAR_054777
VAR_054777 disease not phenotype-associated
VAR_054778 commonName VAR_054778
VAR_054778 disease not phenotype-associated
VAR_054779 commonName VAR_054779
VAR_054779 disease not phenotype-associated
VAR_054780 commonName VAR_054780
VAR_054780 disease not phenotype-associated
VAR_054781 commonName VAR_054781
VAR_054781 disease not phenotype-associated
VAR_054782 commonName VAR_054782
VAR_054782 disease not phenotype-associated
VAR_054783 commonName VAR_054783
VAR_054783 disease not phenotype-associated
VAR_054784 commonName VAR_054784
VAR_054784 disease not phenotype-associated
VAR_054785 commonName VAR_054785
VAR_054785 disease phenotype-associated
VAR_054785 phenoCommon Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]
VAR_054786 commonName VAR_054786
VAR_054786 disease not phenotype-associated
VAR_054788 commonName VAR_054788
VAR_054788 disease phenotype-associated
VAR_054788 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_054791 commonName VAR_054791
VAR_054791 disease not phenotype-associated
VAR_054792 commonName VAR_054792
VAR_054792 disease not phenotype-associated
VAR_054793 commonName VAR_054793
VAR_054793 disease not phenotype-associated
VAR_054794 commonName VAR_054794
VAR_054794 disease not phenotype-associated
VAR_054795 commonName VAR_054795
VAR_054795 disease not phenotype-associated
VAR_054796 commonName VAR_054796
VAR_054796 disease not phenotype-associated
VAR_054797 commonName VAR_054797
VAR_054797 disease not phenotype-associated
VAR_054798 commonName VAR_054798
VAR_054798 disease not phenotype-associated
VAR_054799 commonName VAR_054799
VAR_054799 disease not phenotype-associated
VAR_054800 commonName VAR_054800
VAR_054800 disease not phenotype-associated
VAR_054802 commonName VAR_054802
VAR_054802 disease not phenotype-associated
VAR_054803 commonName VAR_054803
VAR_054803 disease not phenotype-associated
VAR_054804 commonName VAR_054804
VAR_054804 disease not phenotype-associated
VAR_054805 commonName VAR_054805
VAR_054805 disease phenotype-associated
VAR_054805 phenoCommon Brachyolmia type 3 (BRAC3) [MIM:113500]
VAR_054806 commonName VAR_054806
VAR_054806 disease phenotype-associated
VAR_054806 phenoCommon Brachyolmia type 3 (BRAC3) [MIM:113500]
VAR_054807 commonName VAR_054807
VAR_054807 disease phenotype-associated
VAR_054807 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_054808 commonName VAR_054808
VAR_054808 disease phenotype-associated
VAR_054808 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_054809 commonName VAR_054809
VAR_054809 disease phenotype-associated
VAR_054809 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_054810 commonName VAR_054810
VAR_054810 disease phenotype-associated
VAR_054810 phenoCommon Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]
VAR_054811 commonName VAR_054811
VAR_054811 disease phenotype-associated
VAR_054811 phenoCommon Pontocerebellar hypoplasia type 2C (PCH2C) [MIM:612390]
VAR_054812 commonName VAR_054812
VAR_054812 disease phenotype-associated
VAR_054812 phenoCommon Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]
VAR_054813 commonName VAR_054813
VAR_054813 disease phenotype-associated
VAR_054813 phenoCommon Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470]
VAR_054813 phenoCommon Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]
VAR_054814 commonName VAR_054814
VAR_054814 disease not phenotype-associated
VAR_054815 commonName VAR_054815
VAR_054815 disease not phenotype-associated
VAR_054816 commonName VAR_054816
VAR_054816 disease not phenotype-associated
VAR_054817 commonName VAR_054817
VAR_054817 disease not phenotype-associated
VAR_054818 commonName VAR_054818
VAR_054818 disease not phenotype-associated
VAR_054819 commonName VAR_054819
VAR_054819 disease not phenotype-associated
VAR_054820 commonName VAR_054820
VAR_054820 disease not phenotype-associated
VAR_054821 commonName VAR_054821
VAR_054821 disease not phenotype-associated
VAR_054822 commonName VAR_054822
VAR_054822 disease not phenotype-associated
VAR_054828 commonName VAR_054828
VAR_054828 disease phenotype-associated
VAR_054828 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]
VAR_054829 commonName VAR_054829
VAR_054829 disease phenotype-associated
VAR_054829 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]
VAR_054830 commonName VAR_054830
VAR_054830 disease phenotype-associated
VAR_054830 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]
VAR_054831 commonName VAR_054831
VAR_054831 disease not phenotype-associated
VAR_054832 commonName VAR_054832
VAR_054832 disease phenotype-associated
VAR_054832 phenoCommon Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]
VAR_054833 commonName VAR_054833
VAR_054833 disease not phenotype-associated
VAR_054834 commonName VAR_054834
VAR_054834 disease not phenotype-associated
VAR_054835 commonName VAR_054835
VAR_054835 disease not phenotype-associated
VAR_054836 commonName VAR_054836
VAR_054836 disease not phenotype-associated
VAR_054837 commonName VAR_054837
VAR_054837 disease phenotype-associated
VAR_054837 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054838 commonName VAR_054838
VAR_054838 disease phenotype-associated
VAR_054838 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054839 commonName VAR_054839
VAR_054839 disease phenotype-associated
VAR_054839 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054840 commonName VAR_054840
VAR_054840 disease phenotype-associated
VAR_054840 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054841 commonName VAR_054841
VAR_054842 commonName VAR_054842
VAR_054842 disease phenotype-associated
VAR_054842 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054843 commonName VAR_054843
VAR_054843 disease phenotype-associated
VAR_054843 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054844 commonName VAR_054844
VAR_054844 disease phenotype-associated
VAR_054844 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054845 commonName VAR_054845
VAR_054845 disease phenotype-associated
VAR_054845 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054846 commonName VAR_054846
VAR_054846 disease phenotype-associated
VAR_054846 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054847 commonName VAR_054847
VAR_054847 disease phenotype-associated
VAR_054847 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054848 commonName VAR_054848
VAR_054848 disease phenotype-associated
VAR_054848 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054849 commonName VAR_054849
VAR_054849 disease phenotype-associated
VAR_054849 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
VAR_054850 commonName VAR_054850
VAR_054850 disease phenotype-associated
VAR_054850 phenoCommon Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]
VAR_054851 commonName VAR_054851
VAR_054851 disease phenotype-associated
VAR_054851 phenoCommon Retinitis pigmentosa type 46 (RP46) [MIM:612572]
VAR_054852 commonName VAR_054852
VAR_054852 disease phenotype-associated
VAR_054852 phenoCommon Glutaric aciduria type 3 (GA3) [MIM:231690]
VAR_054853 commonName VAR_054853
VAR_054853 disease not phenotype-associated
VAR_054854 commonName VAR_054854
VAR_054854 disease phenotype-associated
VAR_054854 phenoCommon Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]
VAR_054855 commonName VAR_054855
VAR_054855 disease not phenotype-associated
VAR_054856 commonName VAR_054856
VAR_054856 disease not phenotype-associated
VAR_054857 commonName VAR_054857
VAR_054857 disease not phenotype-associated
VAR_054858 commonName VAR_054858
VAR_054858 disease not phenotype-associated
VAR_054859 commonName VAR_054859
VAR_054859 disease not phenotype-associated
VAR_054860 comment Polymorphism associated with increased risk of lung cancer
VAR_054860 commonName VAR_054860
VAR_054861 commonName VAR_054861
VAR_054861 disease not phenotype-associated
VAR_054862 commonName VAR_054862
VAR_054862 disease not phenotype-associated
VAR_054863 commonName VAR_054863
VAR_054863 disease not phenotype-associated
VAR_054864 commonName VAR_054864
VAR_054864 disease not phenotype-associated
VAR_054865 commonName VAR_054865
VAR_054865 disease not phenotype-associated
VAR_054866 commonName VAR_054866
VAR_054866 disease not phenotype-associated
VAR_054867 commonName VAR_054867
VAR_054867 disease not phenotype-associated
VAR_054868 commonName VAR_054868
VAR_054868 disease not phenotype-associated
VAR_054869 commonName VAR_054869
VAR_054869 disease not phenotype-associated
VAR_054870 commonName VAR_054870
VAR_054870 disease not phenotype-associated
VAR_054871 commonName VAR_054871
VAR_054871 disease not phenotype-associated
VAR_054872 commonName VAR_054872
VAR_054872 disease not phenotype-associated
VAR_054873 commonName VAR_054873
VAR_054873 disease phenotype-associated
VAR_054873 phenoCommon Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]
VAR_054874 commonName VAR_054874
VAR_054874 disease phenotype-associated
VAR_054874 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_054875 commonName VAR_054875
VAR_054875 disease phenotype-associated
VAR_054875 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_054876 commonName VAR_054876
VAR_054876 disease phenotype-associated
VAR_054876 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_054877 commonName VAR_054877
VAR_054877 disease phenotype-associated
VAR_054877 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_054878 commonName VAR_054878
VAR_054878 disease not phenotype-associated
VAR_054879 commonName VAR_054879
VAR_054879 disease not phenotype-associated
VAR_054880 commonName VAR_054880
VAR_054881 commonName VAR_054881
VAR_054882 commonName VAR_054882
VAR_054883 commonName VAR_054883
VAR_054883 disease phenotype-associated
VAR_054883 phenoCommon Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]
VAR_054884 commonName VAR_054884
VAR_054884 disease not phenotype-associated
VAR_054885 commonName VAR_054885
VAR_054885 disease not phenotype-associated
VAR_054886 commonName VAR_054886
VAR_054886 disease not phenotype-associated
VAR_054887 commonName VAR_054887
VAR_054887 disease phenotype-associated
VAR_054887 phenoCommon Herpes simplex encephalitis type 2 (HSE2) [MIM:613002]
VAR_054888 commonName VAR_054888
VAR_054888 disease not phenotype-associated
VAR_054889 commonName VAR_054889
VAR_054889 disease not phenotype-associated
VAR_054890 commonName VAR_054890
VAR_054890 disease not phenotype-associated
VAR_054891 commonName VAR_054891
VAR_054891 disease not phenotype-associated
VAR_054892 commonName VAR_054892
VAR_054892 disease not phenotype-associated
VAR_054893 commonName VAR_054893
VAR_054893 disease phenotype-associated
VAR_054893 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
VAR_054894 commonName VAR_054894
VAR_054894 disease phenotype-associated
VAR_054894 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054895 commonName VAR_054895
VAR_054895 disease phenotype-associated
VAR_054895 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054896 commonName VAR_054896
VAR_054896 disease phenotype-associated
VAR_054896 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054897 commonName VAR_054897
VAR_054897 disease phenotype-associated
VAR_054897 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054898 commonName VAR_054898
VAR_054898 disease phenotype-associated
VAR_054898 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054899 commonName VAR_054899
VAR_054899 disease phenotype-associated
VAR_054899 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054900 commonName VAR_054900
VAR_054900 disease phenotype-associated
VAR_054900 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054901 commonName VAR_054901
VAR_054901 disease phenotype-associated
VAR_054901 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054902 commonName VAR_054902
VAR_054902 disease phenotype-associated
VAR_054902 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054903 commonName VAR_054903
VAR_054903 disease phenotype-associated
VAR_054903 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054904 commonName VAR_054904
VAR_054904 disease phenotype-associated
VAR_054904 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054905 commonName VAR_054905
VAR_054905 disease phenotype-associated
VAR_054905 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054906 commonName VAR_054906
VAR_054906 disease phenotype-associated
VAR_054906 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_054907 commonName VAR_054907
VAR_054907 disease phenotype-associated
VAR_054907 phenoCommon Prekallikrein deficiency (PKK deficiency) [MIM:612423]
VAR_054909 commonName VAR_054909
VAR_054909 disease phenotype-associated
VAR_054909 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800]
VAR_054910 commonName VAR_054910
VAR_054910 disease phenotype-associated
VAR_054910 phenoCommon Du Pan syndrome (DPS) [MIM:228900]
VAR_054911 commonName VAR_054911
VAR_054911 disease phenotype-associated
VAR_054911 phenoCommon Du Pan syndrome (DPS) [MIM:228900]
VAR_054913 commonName VAR_054913
VAR_054913 disease phenotype-associated
VAR_054913 phenoCommon Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]
VAR_054914 commonName VAR_054914
VAR_054914 disease not phenotype-associated
VAR_054915 commonName VAR_054915
VAR_054915 disease not phenotype-associated
VAR_054916 commonName VAR_054916
VAR_054916 disease not phenotype-associated
VAR_054917 commonName VAR_054917
VAR_054917 disease not phenotype-associated
VAR_054918 commonName VAR_054918
VAR_054918 disease not phenotype-associated
VAR_054919 commonName VAR_054919
VAR_054919 disease not phenotype-associated
VAR_054920 commonName VAR_054920
VAR_054920 disease not phenotype-associated
VAR_054921 commonName VAR_054921
VAR_054921 disease not phenotype-associated
VAR_054922 commonName VAR_054922
VAR_054922 disease not phenotype-associated
VAR_054923 commonName VAR_054923
VAR_054923 disease not phenotype-associated
VAR_054924 commonName VAR_054924
VAR_054924 disease not phenotype-associated
VAR_054925 commonName VAR_054925
VAR_054925 disease not phenotype-associated
VAR_054926 commonName VAR_054926
VAR_054926 disease not phenotype-associated
VAR_054934 commonName VAR_054934
VAR_054934 disease phenotype-associated
VAR_054934 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054935 commonName VAR_054935
VAR_054935 disease phenotype-associated
VAR_054935 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_054936 commonName VAR_054936
VAR_054936 disease phenotype-associated
VAR_054936 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_054937 commonName VAR_054937
VAR_054937 disease phenotype-associated
VAR_054937 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054938 commonName VAR_054938
VAR_054938 disease phenotype-associated
VAR_054938 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054939 commonName VAR_054939
VAR_054939 disease phenotype-associated
VAR_054939 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_054940 commonName VAR_054940
VAR_054940 disease phenotype-associated
VAR_054940 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054941 commonName VAR_054941
VAR_054941 disease phenotype-associated
VAR_054941 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
VAR_054941 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_054942 commonName VAR_054942
VAR_054942 disease phenotype-associated
VAR_054942 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054943 commonName VAR_054943
VAR_054943 disease phenotype-associated
VAR_054943 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_054944 commonName VAR_054944
VAR_054944 disease phenotype-associated
VAR_054944 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_054945 commonName VAR_054945
VAR_054945 disease phenotype-associated
VAR_054945 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054946 commonName VAR_054946
VAR_054946 disease phenotype-associated
VAR_054946 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054947 commonName VAR_054947
VAR_054947 disease phenotype-associated
VAR_054947 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_054948 commonName VAR_054948
VAR_054948 disease phenotype-associated
VAR_054948 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_054949 commonName VAR_054949
VAR_054949 disease phenotype-associated
VAR_054949 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_054950 commonName VAR_054950
VAR_054950 disease phenotype-associated
VAR_054950 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054951 commonName VAR_054951
VAR_054951 disease phenotype-associated
VAR_054951 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_054952 commonName VAR_054952
VAR_054952 disease phenotype-associated
VAR_054952 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_054953 commonName VAR_054953
VAR_054953 disease phenotype-associated
VAR_054953 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
VAR_054954 commonName VAR_054954
VAR_054954 disease phenotype-associated
VAR_054954 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
VAR_054955 commonName VAR_054955
VAR_054955 disease phenotype-associated
VAR_054955 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_054956 commonName VAR_054956
VAR_054956 disease phenotype-associated
VAR_054956 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_054957 commonName VAR_054957
VAR_054957 disease phenotype-associated
VAR_054957 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
VAR_054958 commonName VAR_054958
VAR_054958 disease not phenotype-associated
VAR_054959 commonName VAR_054959
VAR_054959 disease not phenotype-associated
VAR_054960 commonName VAR_054960
VAR_054960 disease not phenotype-associated
VAR_054961 commonName VAR_054961
VAR_054961 disease not phenotype-associated
VAR_054962 commonName VAR_054962
VAR_054962 disease not phenotype-associated
VAR_054963 commonName VAR_054963
VAR_054963 disease not phenotype-associated
VAR_054964 commonName VAR_054964
VAR_054964 disease not phenotype-associated
VAR_054965 commonName VAR_054965
VAR_054965 disease not phenotype-associated
VAR_054966 commonName VAR_054966
VAR_054967 commonName VAR_054967
VAR_054967 disease phenotype-associated
VAR_054967 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
VAR_054968 commonName VAR_054968
VAR_054968 disease phenotype-associated
VAR_054968 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
VAR_054969 commonName VAR_054969
VAR_054969 disease phenotype-associated
VAR_054969 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
VAR_054970 commonName VAR_054970
VAR_054970 disease not phenotype-associated
VAR_054972 commonName VAR_054972
VAR_054972 disease not phenotype-associated
VAR_054973 commonName VAR_054973
VAR_054973 disease phenotype-associated
VAR_054973 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_054974 commonName VAR_054974
VAR_054974 disease not phenotype-associated
VAR_054975 commonName VAR_054975
VAR_054975 disease not phenotype-associated
VAR_054976 commonName VAR_054976
VAR_054976 disease not phenotype-associated
VAR_054977 commonName VAR_054977
VAR_054977 disease phenotype-associated
VAR_054977 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
VAR_054978 commonName VAR_054978
VAR_054978 disease phenotype-associated
VAR_054978 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
VAR_054979 commonName VAR_054979
VAR_054979 disease not phenotype-associated
VAR_054980 commonName VAR_054980
VAR_054980 disease not phenotype-associated
VAR_054981 commonName VAR_054981
VAR_054981 disease phenotype-associated
VAR_054981 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054982 commonName VAR_054982
VAR_054982 disease phenotype-associated
VAR_054982 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054983 commonName VAR_054983
VAR_054983 disease phenotype-associated
VAR_054983 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054984 commonName VAR_054984
VAR_054984 disease phenotype-associated
VAR_054984 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054985 commonName VAR_054985
VAR_054985 disease phenotype-associated
VAR_054985 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054986 commonName VAR_054986
VAR_054986 disease phenotype-associated
VAR_054986 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054987 commonName VAR_054987
VAR_054987 disease phenotype-associated
VAR_054987 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_054988 commonName VAR_054988
VAR_054988 disease not phenotype-associated
VAR_054989 commonName VAR_054989
VAR_054989 disease not phenotype-associated
VAR_054990 commonName VAR_054990
VAR_054990 disease not phenotype-associated
VAR_054991 commonName VAR_054991
VAR_054991 disease phenotype-associated
VAR_054991 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900]
VAR_054992 commonName VAR_054992
VAR_054992 disease phenotype-associated
VAR_054992 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900]
VAR_054993 commonName VAR_054993
VAR_054993 disease phenotype-associated
VAR_054993 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850]
VAR_054994 commonName VAR_054994
VAR_054994 disease phenotype-associated
VAR_054994 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850]
VAR_054995 commonName VAR_054995
VAR_054995 disease phenotype-associated
VAR_054995 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850]
VAR_054997 commonName VAR_054997
VAR_054997 disease phenotype-associated
VAR_054997 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033]
VAR_054998 commonName VAR_054998
VAR_054998 disease phenotype-associated
VAR_054998 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033]
VAR_054999 commonName VAR_054999
VAR_054999 disease phenotype-associated
VAR_054999 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033]
VAR_055000 commonName VAR_055000
VAR_055001 commonName VAR_055001
VAR_055002 commonName VAR_055002
VAR_055002 disease phenotype-associated
VAR_055002 phenoCommon Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]
VAR_055003 commonName VAR_055003
VAR_055003 disease not phenotype-associated
VAR_055004 commonName VAR_055004
VAR_055004 disease not phenotype-associated
VAR_055005 commonName VAR_055005
VAR_055005 disease not phenotype-associated
VAR_055006 commonName VAR_055006
VAR_055006 disease not phenotype-associated
VAR_055007 commonName VAR_055007
VAR_055007 disease not phenotype-associated
VAR_055008 commonName VAR_055008
VAR_055008 disease not phenotype-associated
VAR_055009 commonName VAR_055009
VAR_055009 disease not phenotype-associated
VAR_055010 commonName VAR_055010
VAR_055010 disease not phenotype-associated
VAR_055011 commonName VAR_055011
VAR_055011 disease not phenotype-associated
VAR_055012 commonName VAR_055012
VAR_055012 disease not phenotype-associated
VAR_055013 commonName VAR_055013
VAR_055013 disease not phenotype-associated
VAR_055014 commonName VAR_055014
VAR_055014 disease not phenotype-associated
VAR_055015 commonName VAR_055015
VAR_055015 disease not phenotype-associated
VAR_055016 commonName VAR_055016
VAR_055016 disease not phenotype-associated
VAR_055017 commonName VAR_055017
VAR_055017 disease not phenotype-associated
VAR_055018 commonName VAR_055018
VAR_055018 disease not phenotype-associated
VAR_055019 commonName VAR_055019
VAR_055019 disease not phenotype-associated
VAR_055020 commonName VAR_055020
VAR_055020 disease not phenotype-associated
VAR_055021 commonName VAR_055021
VAR_055021 disease not phenotype-associated
VAR_055022 commonName VAR_055022
VAR_055022 disease not phenotype-associated
VAR_055023 commonName VAR_055023
VAR_055023 disease not phenotype-associated
VAR_055024 commonName VAR_055024
VAR_055024 disease not phenotype-associated
VAR_055025 commonName VAR_055025
VAR_055025 disease not phenotype-associated
VAR_055026 commonName VAR_055026
VAR_055026 disease not phenotype-associated
VAR_055027 commonName VAR_055027
VAR_055027 disease not phenotype-associated
VAR_055028 commonName VAR_055028
VAR_055028 disease not phenotype-associated
VAR_055029 commonName VAR_055029
VAR_055029 disease not phenotype-associated
VAR_055030 commonName VAR_055030
VAR_055030 disease not phenotype-associated
VAR_055033 commonName VAR_055033
VAR_055033 disease not phenotype-associated
VAR_055034 commonName VAR_055034
VAR_055034 disease not phenotype-associated
VAR_055035 commonName VAR_055035
VAR_055035 disease not phenotype-associated
VAR_055036 commonName VAR_055036
VAR_055036 disease not phenotype-associated
VAR_055037 commonName VAR_055037
VAR_055037 disease not phenotype-associated
VAR_055038 commonName VAR_055038
VAR_055038 disease not phenotype-associated
VAR_055039 commonName VAR_055039
VAR_055039 disease not phenotype-associated
VAR_055040 commonName VAR_055040
VAR_055040 disease not phenotype-associated
VAR_055041 commonName VAR_055041
VAR_055041 disease not phenotype-associated
VAR_055042 commonName VAR_055042
VAR_055042 disease not phenotype-associated
VAR_055043 commonName VAR_055043
VAR_055043 disease not phenotype-associated
VAR_055044 commonName VAR_055044
VAR_055044 disease not phenotype-associated
VAR_055045 commonName VAR_055045
VAR_055045 disease not phenotype-associated
VAR_055046 commonName VAR_055046
VAR_055046 disease not phenotype-associated
VAR_055047 commonName VAR_055047
VAR_055047 disease not phenotype-associated
VAR_055048 commonName VAR_055048
VAR_055048 disease not phenotype-associated
VAR_055049 commonName VAR_055049
VAR_055049 disease not phenotype-associated
VAR_055050 commonName VAR_055050
VAR_055050 disease not phenotype-associated
VAR_055051 commonName VAR_055051
VAR_055051 disease not phenotype-associated
VAR_055052 commonName VAR_055052
VAR_055052 disease not phenotype-associated
VAR_055053 commonName VAR_055053
VAR_055053 disease not phenotype-associated
VAR_055054 commonName VAR_055054
VAR_055054 disease not phenotype-associated
VAR_055055 commonName VAR_055055
VAR_055055 disease not phenotype-associated
VAR_055056 commonName VAR_055056
VAR_055056 disease not phenotype-associated
VAR_055057 commonName VAR_055057
VAR_055057 disease not phenotype-associated
VAR_055058 commonName VAR_055058
VAR_055058 disease not phenotype-associated
VAR_055059 commonName VAR_055059
VAR_055059 disease not phenotype-associated
VAR_055060 commonName VAR_055060
VAR_055060 disease not phenotype-associated
VAR_055061 commonName VAR_055061
VAR_055061 disease not phenotype-associated
VAR_055062 commonName VAR_055062
VAR_055062 disease not phenotype-associated
VAR_055063 commonName VAR_055063
VAR_055063 disease not phenotype-associated
VAR_055064 commonName VAR_055064
VAR_055064 disease not phenotype-associated
VAR_055065 commonName VAR_055065
VAR_055065 disease not phenotype-associated
VAR_055066 commonName VAR_055066
VAR_055066 disease not phenotype-associated
VAR_055067 commonName VAR_055067
VAR_055067 disease not phenotype-associated
VAR_055068 commonName VAR_055068
VAR_055068 disease not phenotype-associated
VAR_055069 commonName VAR_055069
VAR_055069 disease not phenotype-associated
VAR_055070 commonName VAR_055070
VAR_055070 disease not phenotype-associated
VAR_055071 commonName VAR_055071
VAR_055071 disease not phenotype-associated
VAR_055072 commonName VAR_055072
VAR_055072 disease not phenotype-associated
VAR_055073 commonName VAR_055073
VAR_055073 disease not phenotype-associated
VAR_055074 commonName VAR_055074
VAR_055074 disease phenotype-associated
VAR_055074 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
VAR_055075 commonName VAR_055075
VAR_055075 disease not phenotype-associated
VAR_055076 commonName VAR_055076
VAR_055076 disease not phenotype-associated
VAR_055077 commonName VAR_055077
VAR_055077 disease not phenotype-associated
VAR_055078 commonName VAR_055078
VAR_055078 disease not phenotype-associated
VAR_055079 commonName VAR_055079
VAR_055079 disease not phenotype-associated
VAR_055080 commonName VAR_055080
VAR_055080 disease not phenotype-associated
VAR_055081 commonName VAR_055081
VAR_055081 disease not phenotype-associated
VAR_055082 commonName VAR_055082
VAR_055082 disease not phenotype-associated
VAR_055083 commonName VAR_055083
VAR_055083 disease not phenotype-associated
VAR_055084 commonName VAR_055084
VAR_055084 disease not phenotype-associated
VAR_055085 commonName VAR_055085
VAR_055085 disease not phenotype-associated
VAR_055086 commonName VAR_055086
VAR_055086 disease phenotype-associated
VAR_055086 phenoCommon Delayed sleep phase syndrome (DSPS) [MIM:614163]
VAR_055087 commonName VAR_055087
VAR_055087 disease not phenotype-associated
VAR_055088 commonName VAR_055088
VAR_055088 disease not phenotype-associated
VAR_055089 commonName VAR_055089
VAR_055089 disease not phenotype-associated
VAR_055090 commonName VAR_055090
VAR_055090 disease not phenotype-associated
VAR_055091 commonName VAR_055091
VAR_055091 disease not phenotype-associated
VAR_055093 commonName VAR_055093
VAR_055093 disease not phenotype-associated
VAR_055094 commonName VAR_055094
VAR_055094 disease not phenotype-associated
VAR_055095 commonName VAR_055095
VAR_055095 disease not phenotype-associated
VAR_055096 commonName VAR_055096
VAR_055096 disease not phenotype-associated
VAR_055097 commonName VAR_055097
VAR_055097 disease not phenotype-associated
VAR_055100 commonName VAR_055100
VAR_055100 disease not phenotype-associated
VAR_055101 commonName VAR_055101
VAR_055101 disease not phenotype-associated
VAR_055102 commonName VAR_055102
VAR_055102 disease not phenotype-associated
VAR_055103 commonName VAR_055103
VAR_055103 disease not phenotype-associated
VAR_055104 commonName VAR_055104
VAR_055104 disease not phenotype-associated
VAR_055105 commonName VAR_055105
VAR_055105 disease not phenotype-associated
VAR_055106 commonName VAR_055106
VAR_055106 disease not phenotype-associated
VAR_055107 commonName VAR_055107
VAR_055107 disease not phenotype-associated
VAR_055108 commonName VAR_055108
VAR_055108 disease not phenotype-associated
VAR_055109 commonName VAR_055109
VAR_055109 disease not phenotype-associated
VAR_055110 commonName VAR_055110
VAR_055110 disease not phenotype-associated
VAR_055111 commonName VAR_055111
VAR_055111 disease not phenotype-associated
VAR_055112 commonName VAR_055112
VAR_055112 disease not phenotype-associated
VAR_055113 commonName VAR_055113
VAR_055113 disease not phenotype-associated
VAR_055114 commonName VAR_055114
VAR_055114 disease not phenotype-associated
VAR_055115 commonName VAR_055115
VAR_055115 disease not phenotype-associated
VAR_055116 commonName VAR_055116
VAR_055116 disease not phenotype-associated
VAR_055117 commonName VAR_055117
VAR_055117 disease not phenotype-associated
VAR_055118 commonName VAR_055118
VAR_055118 disease not phenotype-associated
VAR_055119 commonName VAR_055119
VAR_055119 disease not phenotype-associated
VAR_055121 commonName VAR_055121
VAR_055121 disease not phenotype-associated
VAR_055122 commonName VAR_055122
VAR_055122 disease not phenotype-associated
VAR_055123 commonName VAR_055123
VAR_055123 disease not phenotype-associated
VAR_055124 commonName VAR_055124
VAR_055124 disease not phenotype-associated
VAR_055125 commonName VAR_055125
VAR_055125 disease not phenotype-associated
VAR_055126 commonName VAR_055126
VAR_055126 disease not phenotype-associated
VAR_055127 commonName VAR_055127
VAR_055127 disease not phenotype-associated
VAR_055128 commonName VAR_055128
VAR_055128 disease not phenotype-associated
VAR_055129 commonName VAR_055129
VAR_055129 disease not phenotype-associated
VAR_055130 commonName VAR_055130
VAR_055130 disease not phenotype-associated
VAR_055131 commonName VAR_055131
VAR_055131 disease not phenotype-associated
VAR_055132 commonName VAR_055132
VAR_055132 disease not phenotype-associated
VAR_055133 commonName VAR_055133
VAR_055133 disease not phenotype-associated
VAR_055134 commonName VAR_055134
VAR_055134 disease not phenotype-associated
VAR_055135 commonName VAR_055135
VAR_055135 disease not phenotype-associated
VAR_055136 commonName VAR_055136
VAR_055136 disease not phenotype-associated
VAR_055137 commonName VAR_055137
VAR_055137 disease not phenotype-associated
VAR_055138 commonName VAR_055138
VAR_055138 disease not phenotype-associated
VAR_055139 commonName VAR_055139
VAR_055139 disease not phenotype-associated
VAR_055140 commonName VAR_055140
VAR_055140 disease not phenotype-associated
VAR_055141 commonName VAR_055141
VAR_055141 disease not phenotype-associated
VAR_055142 commonName VAR_055142
VAR_055142 disease not phenotype-associated
VAR_055143 commonName VAR_055143
VAR_055143 disease not phenotype-associated
VAR_055144 commonName VAR_055144
VAR_055144 disease not phenotype-associated
VAR_055145 commonName VAR_055145
VAR_055145 disease not phenotype-associated
VAR_055146 commonName VAR_055146
VAR_055146 disease not phenotype-associated
VAR_055147 commonName VAR_055147
VAR_055147 disease not phenotype-associated
VAR_055148 commonName VAR_055148
VAR_055148 disease not phenotype-associated
VAR_055150 commonName VAR_055150
VAR_055150 disease not phenotype-associated
VAR_055151 commonName VAR_055151
VAR_055151 disease not phenotype-associated
VAR_055152 commonName VAR_055152
VAR_055152 disease not phenotype-associated
VAR_055153 commonName VAR_055153
VAR_055153 disease not phenotype-associated
VAR_055154 commonName VAR_055154
VAR_055154 disease not phenotype-associated
VAR_055155 commonName VAR_055155
VAR_055155 disease not phenotype-associated
VAR_055156 commonName VAR_055156
VAR_055156 disease phenotype-associated
VAR_055156 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_055157 commonName VAR_055157
VAR_055157 disease phenotype-associated
VAR_055157 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_055158 commonName VAR_055158
VAR_055158 disease phenotype-associated
VAR_055158 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_055159 commonName VAR_055159
VAR_055159 disease phenotype-associated
VAR_055159 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055160 commonName VAR_055160
VAR_055160 disease phenotype-associated
VAR_055160 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055161 commonName VAR_055161
VAR_055161 disease phenotype-associated
VAR_055161 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055162 commonName VAR_055162
VAR_055162 disease phenotype-associated
VAR_055162 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_055163 commonName VAR_055163
VAR_055163 disease not phenotype-associated
VAR_055164 commonName VAR_055164
VAR_055164 disease phenotype-associated
VAR_055164 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_055165 commonName VAR_055165
VAR_055165 disease not phenotype-associated
VAR_055166 commonName VAR_055166
VAR_055166 disease phenotype-associated
VAR_055166 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055167 commonName VAR_055167
VAR_055167 disease phenotype-associated
VAR_055167 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055168 commonName VAR_055168
VAR_055168 disease phenotype-associated
VAR_055168 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055169 commonName VAR_055169
VAR_055170 commonName VAR_055170
VAR_055170 disease phenotype-associated
VAR_055170 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055171 commonName VAR_055171
VAR_055171 disease phenotype-associated
VAR_055171 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055172 commonName VAR_055172
VAR_055172 disease phenotype-associated
VAR_055172 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055173 commonName VAR_055173
VAR_055173 disease phenotype-associated
VAR_055173 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055174 commonName VAR_055174
VAR_055174 disease not phenotype-associated
VAR_055175 commonName VAR_055175
VAR_055175 disease phenotype-associated
VAR_055175 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055176 commonName VAR_055176
VAR_055177 commonName VAR_055177
VAR_055177 disease phenotype-associated
VAR_055177 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_055178 commonName VAR_055178
VAR_055178 disease phenotype-associated
VAR_055178 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055178 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055180 commonName VAR_055180
VAR_055180 disease phenotype-associated
VAR_055180 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055181 commonName VAR_055181
VAR_055181 disease phenotype-associated
VAR_055181 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055182 commonName VAR_055182
VAR_055182 disease phenotype-associated
VAR_055182 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055183 commonName VAR_055183
VAR_055183 disease phenotype-associated
VAR_055183 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055184 commonName VAR_055184
VAR_055184 disease phenotype-associated
VAR_055184 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055185 commonName VAR_055185
VAR_055185 disease phenotype-associated
VAR_055185 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_055186 commonName VAR_055186
VAR_055186 disease phenotype-associated
VAR_055186 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055187 commonName VAR_055187
VAR_055187 disease phenotype-associated
VAR_055187 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055188 commonName VAR_055188
VAR_055188 disease not phenotype-associated
VAR_055189 commonName VAR_055189
VAR_055189 disease phenotype-associated
VAR_055189 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055190 commonName VAR_055190
VAR_055190 disease phenotype-associated
VAR_055190 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055191 commonName VAR_055191
VAR_055191 disease phenotype-associated
VAR_055191 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055192 commonName VAR_055192
VAR_055192 disease phenotype-associated
VAR_055192 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055193 commonName VAR_055193
VAR_055193 disease phenotype-associated
VAR_055193 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055194 commonName VAR_055194
VAR_055194 disease phenotype-associated
VAR_055194 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055195 commonName VAR_055195
VAR_055195 disease phenotype-associated
VAR_055195 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055196 commonName VAR_055196
VAR_055196 disease phenotype-associated
VAR_055196 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055198 commonName VAR_055198
VAR_055198 disease phenotype-associated
VAR_055198 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055199 commonName VAR_055199
VAR_055199 disease phenotype-associated
VAR_055199 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055201 commonName VAR_055201
VAR_055201 disease phenotype-associated
VAR_055201 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055201 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900]
VAR_055202 commonName VAR_055202
VAR_055202 disease phenotype-associated
VAR_055202 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055203 commonName VAR_055203
VAR_055203 disease phenotype-associated
VAR_055203 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055203 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055204 commonName VAR_055204
VAR_055204 disease phenotype-associated
VAR_055204 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055205 commonName VAR_055205
VAR_055205 disease phenotype-associated
VAR_055205 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055206 commonName VAR_055206
VAR_055206 disease phenotype-associated
VAR_055206 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055207 commonName VAR_055207
VAR_055207 disease phenotype-associated
VAR_055207 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_055208 commonName VAR_055208
VAR_055208 disease phenotype-associated
VAR_055208 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055209 commonName VAR_055209
VAR_055209 disease phenotype-associated
VAR_055209 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055210 commonName VAR_055210
VAR_055210 disease phenotype-associated
VAR_055210 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055211 commonName VAR_055211
VAR_055211 disease phenotype-associated
VAR_055211 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055212 commonName VAR_055212
VAR_055212 disease phenotype-associated
VAR_055212 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055213 commonName VAR_055213
VAR_055213 disease phenotype-associated
VAR_055213 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055214 commonName VAR_055214
VAR_055214 disease phenotype-associated
VAR_055214 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055215 commonName VAR_055215
VAR_055215 disease phenotype-associated
VAR_055215 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055216 commonName VAR_055216
VAR_055217 commonName VAR_055217
VAR_055217 disease phenotype-associated
VAR_055217 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055218 commonName VAR_055218
VAR_055218 disease phenotype-associated
VAR_055218 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055219 commonName VAR_055219
VAR_055219 disease phenotype-associated
VAR_055219 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_055220 commonName VAR_055220
VAR_055220 disease phenotype-associated
VAR_055220 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055221 commonName VAR_055221
VAR_055221 disease phenotype-associated
VAR_055221 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144]
VAR_055221 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055222 commonName VAR_055222
VAR_055222 disease phenotype-associated
VAR_055222 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_055223 commonName VAR_055223
VAR_055223 disease not phenotype-associated
VAR_055224 commonName VAR_055224
VAR_055224 disease not phenotype-associated
VAR_055225 commonName VAR_055225
VAR_055225 disease not phenotype-associated
VAR_055226 commonName VAR_055226
VAR_055226 disease not phenotype-associated
VAR_055228 commonName VAR_055228
VAR_055228 disease not phenotype-associated
VAR_055229 commonName VAR_055229
VAR_055229 disease not phenotype-associated
VAR_055230 commonName VAR_055230
VAR_055230 disease not phenotype-associated
VAR_055231 commonName VAR_055231
VAR_055231 disease not phenotype-associated
VAR_055232 commonName VAR_055232
VAR_055232 disease phenotype-associated
VAR_055232 phenoCommon Factor II deficiency (FA2D) [MIM:613679]
VAR_055234 commonName VAR_055234
VAR_055234 disease phenotype-associated
VAR_055234 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
VAR_055235 commonName VAR_055235
VAR_055235 disease phenotype-associated
VAR_055235 phenoCommon Primary ciliary dyskinesia type 11 (CILD11) [MIM:612649]
VAR_055237 commonName VAR_055237
VAR_055237 disease not phenotype-associated
VAR_055238 commonName VAR_055238
VAR_055238 disease not phenotype-associated
VAR_055239 commonName VAR_055239
VAR_055239 disease not phenotype-associated
VAR_055240 commonName VAR_055240
VAR_055240 disease not phenotype-associated
VAR_055241 commonName VAR_055241
VAR_055241 disease not phenotype-associated
VAR_055242 commonName VAR_055242
VAR_055242 disease not phenotype-associated
VAR_055243 commonName VAR_055243
VAR_055243 disease not phenotype-associated
VAR_055244 commonName VAR_055244
VAR_055244 disease not phenotype-associated
VAR_055245 commonName VAR_055245
VAR_055245 disease not phenotype-associated
VAR_055246 commonName VAR_055246
VAR_055246 disease not phenotype-associated
VAR_055247 commonName VAR_055247
VAR_055247 disease not phenotype-associated
VAR_055248 commonName VAR_055248
VAR_055248 disease not phenotype-associated
VAR_055249 commonName VAR_055249
VAR_055249 disease not phenotype-associated
VAR_055250 commonName VAR_055250
VAR_055250 disease not phenotype-associated
VAR_055251 commonName VAR_055251
VAR_055251 disease not phenotype-associated
VAR_055252 commonName VAR_055252
VAR_055252 disease not phenotype-associated
VAR_055253 commonName VAR_055253
VAR_055253 disease not phenotype-associated
VAR_055254 commonName VAR_055254
VAR_055254 disease not phenotype-associated
VAR_055255 commonName VAR_055255
VAR_055255 disease not phenotype-associated
VAR_055257 commonName VAR_055257
VAR_055257 disease not phenotype-associated
VAR_055258 commonName VAR_055258
VAR_055258 disease not phenotype-associated
VAR_055259 commonName VAR_055259
VAR_055259 disease not phenotype-associated
VAR_055260 commonName VAR_055260
VAR_055260 disease not phenotype-associated
VAR_055261 commonName VAR_055261
VAR_055261 disease not phenotype-associated
VAR_055262 commonName VAR_055262
VAR_055262 disease not phenotype-associated
VAR_055263 commonName VAR_055263
VAR_055263 disease not phenotype-associated
VAR_055264 commonName VAR_055264
VAR_055264 disease not phenotype-associated
VAR_055265 commonName VAR_055265
VAR_055265 disease not phenotype-associated
VAR_055266 commonName VAR_055266
VAR_055266 disease not phenotype-associated
VAR_055267 commonName VAR_055267
VAR_055267 disease not phenotype-associated
VAR_055268 commonName VAR_055268
VAR_055268 disease not phenotype-associated
VAR_055269 commonName VAR_055269
VAR_055269 disease not phenotype-associated
VAR_055270 commonName VAR_055270
VAR_055270 disease not phenotype-associated
VAR_055271 commonName VAR_055271
VAR_055271 disease not phenotype-associated
VAR_055272 commonName VAR_055272
VAR_055272 disease not phenotype-associated
VAR_055273 commonName VAR_055273
VAR_055273 disease not phenotype-associated
VAR_055274 commonName VAR_055274
VAR_055274 disease not phenotype-associated
VAR_055275 commonName VAR_055275
VAR_055275 disease not phenotype-associated
VAR_055276 commonName VAR_055276
VAR_055276 disease not phenotype-associated
VAR_055277 commonName VAR_055277
VAR_055277 disease not phenotype-associated
VAR_055278 commonName VAR_055278
VAR_055278 disease not phenotype-associated
VAR_055279 commonName VAR_055279
VAR_055279 disease not phenotype-associated
VAR_055280 commonName VAR_055280
VAR_055280 disease not phenotype-associated
VAR_055281 commonName VAR_055281
VAR_055281 disease not phenotype-associated
VAR_055282 commonName VAR_055282
VAR_055282 disease not phenotype-associated
VAR_055283 commonName VAR_055283
VAR_055283 disease not phenotype-associated
VAR_055284 commonName VAR_055284
VAR_055284 disease not phenotype-associated
VAR_055285 commonName VAR_055285
VAR_055285 disease not phenotype-associated
VAR_055286 commonName VAR_055286
VAR_055286 disease not phenotype-associated
VAR_055287 commonName VAR_055287
VAR_055287 disease not phenotype-associated
VAR_055288 commonName VAR_055288
VAR_055288 disease not phenotype-associated
VAR_055289 commonName VAR_055289
VAR_055289 disease not phenotype-associated
VAR_055290 commonName VAR_055290
VAR_055290 disease not phenotype-associated
VAR_055291 commonName VAR_055291
VAR_055291 disease not phenotype-associated
VAR_055292 commonName VAR_055292
VAR_055292 disease not phenotype-associated
VAR_055293 commonName VAR_055293
VAR_055293 disease not phenotype-associated
VAR_055294 commonName VAR_055294
VAR_055294 disease not phenotype-associated
VAR_055295 commonName VAR_055295
VAR_055295 disease not phenotype-associated
VAR_055296 commonName VAR_055296
VAR_055296 disease not phenotype-associated
VAR_055297 commonName VAR_055297
VAR_055297 disease not phenotype-associated
VAR_055298 commonName VAR_055298
VAR_055298 disease not phenotype-associated
VAR_055299 commonName VAR_055299
VAR_055299 disease not phenotype-associated
VAR_055300 commonName VAR_055300
VAR_055300 disease not phenotype-associated
VAR_055301 commonName VAR_055301
VAR_055301 disease not phenotype-associated
VAR_055302 commonName VAR_055302
VAR_055302 disease not phenotype-associated
VAR_055303 commonName VAR_055303
VAR_055303 disease not phenotype-associated
VAR_055304 commonName VAR_055304
VAR_055304 disease not phenotype-associated
VAR_055305 commonName VAR_055305
VAR_055305 disease not phenotype-associated
VAR_055306 commonName VAR_055306
VAR_055306 disease not phenotype-associated
VAR_055307 commonName VAR_055307
VAR_055307 disease not phenotype-associated
VAR_055311 commonName VAR_055311
VAR_055311 disease not phenotype-associated
VAR_055312 commonName VAR_055312
VAR_055312 disease not phenotype-associated
VAR_055313 commonName VAR_055313
VAR_055313 disease not phenotype-associated
VAR_055314 commonName VAR_055314
VAR_055314 disease not phenotype-associated
VAR_055315 commonName VAR_055315
VAR_055315 disease not phenotype-associated
VAR_055316 commonName VAR_055316
VAR_055316 disease not phenotype-associated
VAR_055317 commonName VAR_055317
VAR_055317 disease not phenotype-associated
VAR_055318 commonName VAR_055318
VAR_055318 disease not phenotype-associated
VAR_055319 commonName VAR_055319
VAR_055319 disease not phenotype-associated
VAR_055320 commonName VAR_055320
VAR_055320 disease not phenotype-associated
VAR_055321 commonName VAR_055321
VAR_055321 disease phenotype-associated
VAR_055321 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_055322 commonName VAR_055322
VAR_055322 disease phenotype-associated
VAR_055322 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_055323 commonName VAR_055323
VAR_055323 disease phenotype-associated
VAR_055323 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_055323 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_055324 commonName VAR_055324
VAR_055324 disease phenotype-associated
VAR_055324 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_055325 commonName VAR_055325
VAR_055325 disease not phenotype-associated
VAR_055326 commonName VAR_055326
VAR_055326 disease not phenotype-associated
VAR_055327 commonName VAR_055327
VAR_055327 disease not phenotype-associated
VAR_055328 commonName VAR_055328
VAR_055328 disease not phenotype-associated
VAR_055329 commonName VAR_055329
VAR_055329 disease not phenotype-associated
VAR_055330 commonName VAR_055330
VAR_055330 disease not phenotype-associated
VAR_055331 commonName VAR_055331
VAR_055331 disease not phenotype-associated
VAR_055332 commonName VAR_055332
VAR_055332 disease not phenotype-associated
VAR_055333 commonName VAR_055333
VAR_055333 disease not phenotype-associated
VAR_055334 commonName VAR_055334
VAR_055334 disease not phenotype-associated
VAR_055335 commonName VAR_055335
VAR_055335 disease not phenotype-associated
VAR_055336 commonName VAR_055336
VAR_055336 disease not phenotype-associated
VAR_055337 commonName VAR_055337
VAR_055337 disease phenotype-associated
VAR_055337 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
VAR_055338 commonName VAR_055338
VAR_055338 disease phenotype-associated
VAR_055338 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
VAR_055340 commonName VAR_055340
VAR_055340 disease phenotype-associated
VAR_055340 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
VAR_055341 commonName VAR_055341
VAR_055341 disease not phenotype-associated
VAR_055342 commonName VAR_055342
VAR_055342 disease not phenotype-associated
VAR_055343 commonName VAR_055343
VAR_055344 commonName VAR_055344
VAR_055344 disease not phenotype-associated
VAR_055345 commonName VAR_055345
VAR_055345 disease not phenotype-associated
VAR_055346 commonName VAR_055346
VAR_055346 disease not phenotype-associated
VAR_055347 commonName VAR_055347
VAR_055347 disease not phenotype-associated
VAR_055348 commonName VAR_055348
VAR_055348 disease not phenotype-associated
VAR_055349 commonName VAR_055349
VAR_055349 disease not phenotype-associated
VAR_055350 commonName VAR_055350
VAR_055350 disease not phenotype-associated
VAR_055351 commonName VAR_055351
VAR_055351 disease not phenotype-associated
VAR_055352 commonName VAR_055352
VAR_055352 disease not phenotype-associated
VAR_055353 commonName VAR_055353
VAR_055353 disease not phenotype-associated
VAR_055354 commonName VAR_055354
VAR_055354 disease not phenotype-associated
VAR_055355 commonName VAR_055355
VAR_055355 disease not phenotype-associated
VAR_055356 commonName VAR_055356
VAR_055356 disease not phenotype-associated
VAR_055357 commonName VAR_055357
VAR_055357 disease not phenotype-associated
VAR_055358 commonName VAR_055358
VAR_055358 disease not phenotype-associated
VAR_055359 commonName VAR_055359
VAR_055359 disease not phenotype-associated
VAR_055360 commonName VAR_055360
VAR_055360 disease not phenotype-associated
VAR_055361 commonName VAR_055361
VAR_055361 disease not phenotype-associated
VAR_055362 commonName VAR_055362
VAR_055362 disease not phenotype-associated
VAR_055363 commonName VAR_055363
VAR_055363 disease not phenotype-associated
VAR_055364 commonName VAR_055364
VAR_055364 disease not phenotype-associated
VAR_055365 commonName VAR_055365
VAR_055365 disease not phenotype-associated
VAR_055366 commonName VAR_055366
VAR_055366 disease not phenotype-associated
VAR_055367 commonName VAR_055367
VAR_055367 disease not phenotype-associated
VAR_055368 commonName VAR_055368
VAR_055368 disease not phenotype-associated
VAR_055369 commonName VAR_055369
VAR_055369 disease not phenotype-associated
VAR_055370 commonName VAR_055370
VAR_055370 disease not phenotype-associated
VAR_055372 commonName VAR_055372
VAR_055372 disease not phenotype-associated
VAR_055373 commonName VAR_055373
VAR_055373 disease not phenotype-associated
VAR_055374 commonName VAR_055374
VAR_055374 disease not phenotype-associated
VAR_055375 commonName VAR_055375
VAR_055375 disease not phenotype-associated
VAR_055376 commonName VAR_055376
VAR_055376 disease not phenotype-associated
VAR_055377 commonName VAR_055377
VAR_055377 disease not phenotype-associated
VAR_055378 commonName VAR_055378
VAR_055378 disease not phenotype-associated
VAR_055379 commonName VAR_055379
VAR_055379 disease not phenotype-associated
VAR_055380 commonName VAR_055380
VAR_055380 disease not phenotype-associated
VAR_055381 commonName VAR_055381
VAR_055381 disease not phenotype-associated
VAR_055382 commonName VAR_055382
VAR_055382 disease not phenotype-associated
VAR_055384 commonName VAR_055384
VAR_055384 disease not phenotype-associated
VAR_055385 commonName VAR_055385
VAR_055385 disease not phenotype-associated
VAR_055386 commonName VAR_055386
VAR_055386 disease not phenotype-associated
VAR_055387 commonName VAR_055387
VAR_055387 disease not phenotype-associated
VAR_055388 commonName VAR_055388
VAR_055388 disease not phenotype-associated
VAR_055389 commonName VAR_055389
VAR_055389 disease not phenotype-associated
VAR_055390 commonName VAR_055390
VAR_055390 disease not phenotype-associated
VAR_055391 commonName VAR_055391
VAR_055391 disease not phenotype-associated
VAR_055392 commonName VAR_055392
VAR_055392 disease not phenotype-associated
VAR_055393 commonName VAR_055393
VAR_055393 disease not phenotype-associated
VAR_055394 commonName VAR_055394
VAR_055394 disease not phenotype-associated
VAR_055395 commonName VAR_055395
VAR_055395 disease not phenotype-associated
VAR_055396 commonName VAR_055396
VAR_055396 disease not phenotype-associated
VAR_055397 commonName VAR_055397
VAR_055399 commonName VAR_055399
VAR_055399 disease not phenotype-associated
VAR_055400 commonName VAR_055400
VAR_055400 disease not phenotype-associated
VAR_055401 commonName VAR_055401
VAR_055401 disease not phenotype-associated
VAR_055402 commonName VAR_055402
VAR_055402 disease not phenotype-associated
VAR_055403 commonName VAR_055403
VAR_055403 disease not phenotype-associated
VAR_055404 commonName VAR_055404
VAR_055404 disease not phenotype-associated
VAR_055405 commonName VAR_055405
VAR_055405 disease not phenotype-associated
VAR_055406 commonName VAR_055406
VAR_055406 disease not phenotype-associated
VAR_055407 commonName VAR_055407
VAR_055407 disease not phenotype-associated
VAR_055408 commonName VAR_055408
VAR_055408 disease not phenotype-associated
VAR_055409 commonName VAR_055409
VAR_055409 disease not phenotype-associated
VAR_055410 commonName VAR_055410
VAR_055410 disease not phenotype-associated
VAR_055411 commonName VAR_055411
VAR_055411 disease not phenotype-associated
VAR_055412 commonName VAR_055412
VAR_055413 commonName VAR_055413
VAR_055414 commonName VAR_055414
VAR_055414 disease not phenotype-associated
VAR_055415 commonName VAR_055415
VAR_055415 disease not phenotype-associated
VAR_055416 commonName VAR_055416
VAR_055416 disease not phenotype-associated
VAR_055417 commonName VAR_055417
VAR_055417 disease not phenotype-associated
VAR_055418 commonName VAR_055418
VAR_055418 disease not phenotype-associated
VAR_055419 commonName VAR_055419
VAR_055419 disease not phenotype-associated
VAR_055420 commonName VAR_055420
VAR_055420 disease not phenotype-associated
VAR_055421 commonName VAR_055421
VAR_055421 disease phenotype-associated
VAR_055421 phenoCommon Ovarian cancer (OC) [MIM:167000]
VAR_055422 commonName VAR_055422
VAR_055422 disease phenotype-associated
VAR_055422 phenoCommon Breast cancer (BC) [MIM:114480]
VAR_055422 phenoCommon Proteus syndrome (PROTEUSS) [MIM:176920]
VAR_055423 commonName VAR_055423
VAR_055423 disease not phenotype-associated
VAR_055424 commonName VAR_055424
VAR_055424 disease not phenotype-associated
VAR_055425 commonName VAR_055425
VAR_055425 disease not phenotype-associated
VAR_055426 commonName VAR_055426
VAR_055426 disease not phenotype-associated
VAR_055427 commonName VAR_055427
VAR_055427 disease not phenotype-associated
VAR_055428 commonName VAR_055428
VAR_055428 disease not phenotype-associated
VAR_055429 commonName VAR_055429
VAR_055429 disease not phenotype-associated
VAR_055431 commonName VAR_055431
VAR_055432 comment A lung adenocarcinoma sample
VAR_055432 commonName VAR_055432
VAR_055435 comment A glioblastoma sample
VAR_055435 commonName VAR_055435
VAR_055438 commonName VAR_055438
VAR_055438 disease phenotype-associated
VAR_055438 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055439 commonName VAR_055439
VAR_055439 disease phenotype-associated
VAR_055439 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055440 commonName VAR_055440
VAR_055440 disease phenotype-associated
VAR_055440 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055441 commonName VAR_055441
VAR_055441 disease phenotype-associated
VAR_055441 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055442 commonName VAR_055442
VAR_055442 disease phenotype-associated
VAR_055442 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055444 commonName VAR_055444
VAR_055444 disease phenotype-associated
VAR_055444 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055445 commonName VAR_055445
VAR_055445 disease phenotype-associated
VAR_055445 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
VAR_055447 commonName VAR_055447
VAR_055447 disease phenotype-associated
VAR_055447 phenoCommon Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]
VAR_055448 commonName VAR_055448
VAR_055448 disease phenotype-associated
VAR_055448 phenoCommon Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562]
VAR_055450 commonName VAR_055450
VAR_055450 disease phenotype-associated
VAR_055450 phenoCommon Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]
VAR_055452 commonName VAR_055452
VAR_055452 disease not phenotype-associated
VAR_055453 commonName VAR_055453
VAR_055453 disease not phenotype-associated
VAR_055454 comment A glioma sample
VAR_055454 commonName VAR_055454
VAR_055455 comment A glioma sample
VAR_055455 commonName VAR_055455
VAR_055456 comment A glioma sample
VAR_055456 commonName VAR_055456
VAR_055457 comment A glioma sample
VAR_055457 commonName VAR_055457
VAR_055458 commonName VAR_055458
VAR_055458 disease not phenotype-associated
VAR_055459 commonName VAR_055459
VAR_055459 disease not phenotype-associated
VAR_055460 commonName VAR_055460
VAR_055460 disease not phenotype-associated
VAR_055461 commonName VAR_055461
VAR_055461 disease not phenotype-associated
VAR_055462 commonName VAR_055462
VAR_055462 disease not phenotype-associated
VAR_055463 commonName VAR_055463
VAR_055463 disease not phenotype-associated
VAR_055467 commonName VAR_055467
VAR_055467 disease not phenotype-associated
VAR_055468 commonName VAR_055468
VAR_055468 disease not phenotype-associated
VAR_055469 commonName VAR_055469
VAR_055469 disease not phenotype-associated
VAR_055470 commonName VAR_055470
VAR_055470 disease not phenotype-associated
VAR_055471 commonName VAR_055471
VAR_055471 disease not phenotype-associated
VAR_055472 commonName VAR_055472
VAR_055472 disease not phenotype-associated
VAR_055473 commonName VAR_055473
VAR_055473 disease not phenotype-associated
VAR_055474 commonName VAR_055474
VAR_055474 disease not phenotype-associated
VAR_055475 commonName VAR_055475
VAR_055475 disease not phenotype-associated
VAR_055476 commonName VAR_055476
VAR_055476 disease not phenotype-associated
VAR_055477 commonName VAR_055477
VAR_055477 disease not phenotype-associated
VAR_055478 commonName VAR_055478
VAR_055478 disease not phenotype-associated
VAR_055479 commonName VAR_055479
VAR_055479 disease not phenotype-associated
VAR_055480 commonName VAR_055480
VAR_055480 disease not phenotype-associated
VAR_055481 commonName VAR_055481
VAR_055481 disease not phenotype-associated
VAR_055482 commonName VAR_055482
VAR_055482 disease not phenotype-associated
VAR_055483 commonName VAR_055483
VAR_055483 disease not phenotype-associated
VAR_055484 commonName VAR_055484
VAR_055484 disease not phenotype-associated
VAR_055485 commonName VAR_055485
VAR_055485 disease not phenotype-associated
VAR_055486 commonName VAR_055486
VAR_055486 disease not phenotype-associated
VAR_055487 commonName VAR_055487
VAR_055487 disease not phenotype-associated
VAR_055488 commonName VAR_055488
VAR_055488 disease not phenotype-associated
VAR_055489 commonName VAR_055489
VAR_055489 disease not phenotype-associated
VAR_055490 commonName VAR_055490
VAR_055490 disease not phenotype-associated
VAR_055491 commonName VAR_055491
VAR_055491 disease not phenotype-associated
VAR_055492 commonName VAR_055492
VAR_055492 disease not phenotype-associated
VAR_055493 commonName VAR_055493
VAR_055493 disease not phenotype-associated
VAR_055494 commonName VAR_055494
VAR_055494 disease not phenotype-associated
VAR_055495 commonName VAR_055495
VAR_055495 disease not phenotype-associated
VAR_055496 commonName VAR_055496
VAR_055496 disease not phenotype-associated
VAR_055500 commonName VAR_055500
VAR_055500 disease not phenotype-associated
VAR_055501 commonName VAR_055501
VAR_055501 disease not phenotype-associated
VAR_055502 commonName VAR_055502
VAR_055502 disease not phenotype-associated
VAR_055503 commonName VAR_055503
VAR_055503 disease not phenotype-associated
VAR_055506 commonName VAR_055506
VAR_055506 disease not phenotype-associated
VAR_055507 commonName VAR_055507
VAR_055507 disease not phenotype-associated
VAR_055508 commonName VAR_055508
VAR_055508 disease not phenotype-associated
VAR_055509 commonName VAR_055509
VAR_055509 disease not phenotype-associated
VAR_055510 commonName VAR_055510
VAR_055510 disease not phenotype-associated
VAR_055513 commonName VAR_055513
VAR_055513 disease not phenotype-associated
VAR_055514 commonName VAR_055514
VAR_055514 disease not phenotype-associated
VAR_055515 commonName VAR_055515
VAR_055515 disease not phenotype-associated
VAR_055517 commonName VAR_055517
VAR_055517 disease not phenotype-associated
VAR_055518 commonName VAR_055518
VAR_055518 disease not phenotype-associated
VAR_055519 commonName VAR_055519
VAR_055519 disease not phenotype-associated
VAR_055520 commonName VAR_055520
VAR_055520 disease not phenotype-associated
VAR_055521 commonName VAR_055521
VAR_055521 disease not phenotype-associated
VAR_055522 commonName VAR_055522
VAR_055522 disease not phenotype-associated
VAR_055523 commonName VAR_055523
VAR_055523 disease not phenotype-associated
VAR_055524 commonName VAR_055524
VAR_055524 disease not phenotype-associated
VAR_055525 commonName VAR_055525
VAR_055525 disease not phenotype-associated
VAR_055526 commonName VAR_055526
VAR_055526 disease not phenotype-associated
VAR_055527 commonName VAR_055527
VAR_055527 disease not phenotype-associated
VAR_055528 commonName VAR_055528
VAR_055528 disease not phenotype-associated
VAR_055529 commonName VAR_055529
VAR_055529 disease not phenotype-associated
VAR_055530 commonName VAR_055530
VAR_055530 disease not phenotype-associated
VAR_055531 commonName VAR_055531
VAR_055531 disease not phenotype-associated
VAR_055533 commonName VAR_055533
VAR_055533 disease not phenotype-associated
VAR_055534 commonName VAR_055534
VAR_055534 disease not phenotype-associated
VAR_055535 commonName VAR_055535
VAR_055535 disease not phenotype-associated
VAR_055536 commonName VAR_055536
VAR_055536 disease not phenotype-associated
VAR_055537 commonName VAR_055537
VAR_055537 disease not phenotype-associated
VAR_055538 commonName VAR_055538
VAR_055538 disease not phenotype-associated
VAR_055539 commonName VAR_055539
VAR_055539 disease not phenotype-associated
VAR_055540 commonName VAR_055540
VAR_055540 disease not phenotype-associated
VAR_055541 commonName VAR_055541
VAR_055541 disease not phenotype-associated
VAR_055542 commonName VAR_055542
VAR_055542 disease not phenotype-associated
VAR_055544 commonName VAR_055544
VAR_055544 disease not phenotype-associated
VAR_055545 commonName VAR_055545
VAR_055545 disease not phenotype-associated
VAR_055546 commonName VAR_055546
VAR_055546 disease not phenotype-associated
VAR_055547 commonName VAR_055547
VAR_055547 disease not phenotype-associated
VAR_055548 commonName VAR_055548
VAR_055548 disease not phenotype-associated
VAR_055549 commonName VAR_055549
VAR_055549 disease not phenotype-associated
VAR_055550 commonName VAR_055550
VAR_055550 disease not phenotype-associated
VAR_055551 commonName VAR_055551
VAR_055551 disease not phenotype-associated
VAR_055552 commonName VAR_055552
VAR_055552 disease not phenotype-associated
VAR_055553 commonName VAR_055553
VAR_055553 disease not phenotype-associated
VAR_055554 commonName VAR_055554
VAR_055554 disease not phenotype-associated
VAR_055555 commonName VAR_055555
VAR_055555 disease not phenotype-associated
VAR_055556 commonName VAR_055556
VAR_055556 disease not phenotype-associated
VAR_055557 commonName VAR_055557
VAR_055557 disease not phenotype-associated
VAR_055558 commonName VAR_055558
VAR_055558 disease not phenotype-associated
VAR_055559 commonName VAR_055559
VAR_055559 disease not phenotype-associated
VAR_055560 commonName VAR_055560
VAR_055560 disease not phenotype-associated
VAR_055562 commonName VAR_055562
VAR_055562 disease not phenotype-associated
VAR_055564 commonName VAR_055564
VAR_055564 disease not phenotype-associated
VAR_055565 commonName VAR_055565
VAR_055565 disease not phenotype-associated
VAR_055567 commonName VAR_055567
VAR_055567 disease not phenotype-associated
VAR_055568 commonName VAR_055568
VAR_055568 disease not phenotype-associated
VAR_055569 commonName VAR_055569
VAR_055569 disease not phenotype-associated
VAR_055573 commonName VAR_055573
VAR_055573 disease not phenotype-associated
VAR_055574 commonName VAR_055574
VAR_055574 disease not phenotype-associated
VAR_055575 commonName VAR_055575
VAR_055575 disease not phenotype-associated
VAR_055576 commonName VAR_055576
VAR_055576 disease not phenotype-associated
VAR_055577 commonName VAR_055577
VAR_055577 disease not phenotype-associated
VAR_055578 commonName VAR_055578
VAR_055578 disease not phenotype-associated
VAR_055579 commonName VAR_055579
VAR_055579 disease not phenotype-associated
VAR_055580 commonName VAR_055580
VAR_055580 disease not phenotype-associated
VAR_055581 commonName VAR_055581
VAR_055581 disease not phenotype-associated
VAR_055582 commonName VAR_055582
VAR_055582 disease not phenotype-associated
VAR_055583 commonName VAR_055583
VAR_055583 disease not phenotype-associated
VAR_055584 commonName VAR_055584
VAR_055584 disease not phenotype-associated
VAR_055585 commonName VAR_055585
VAR_055585 disease not phenotype-associated
VAR_055586 commonName VAR_055586
VAR_055586 disease not phenotype-associated
VAR_055587 commonName VAR_055587
VAR_055587 disease not phenotype-associated
VAR_055588 commonName VAR_055588
VAR_055588 disease not phenotype-associated
VAR_055589 commonName VAR_055589
VAR_055589 disease not phenotype-associated
VAR_055590 commonName VAR_055590
VAR_055590 disease not phenotype-associated
VAR_055591 commonName VAR_055591
VAR_055591 disease not phenotype-associated
VAR_055592 commonName VAR_055592
VAR_055592 disease not phenotype-associated
VAR_055593 commonName VAR_055593
VAR_055593 disease not phenotype-associated
VAR_055594 commonName VAR_055594
VAR_055594 disease not phenotype-associated
VAR_055595 commonName VAR_055595
VAR_055595 disease not phenotype-associated
VAR_055596 commonName VAR_055596
VAR_055596 disease not phenotype-associated
VAR_055597 commonName VAR_055597
VAR_055597 disease not phenotype-associated
VAR_055598 commonName VAR_055598
VAR_055598 disease not phenotype-associated
VAR_055599 commonName VAR_055599
VAR_055599 disease not phenotype-associated
VAR_055600 commonName VAR_055600
VAR_055600 disease not phenotype-associated
VAR_055601 commonName VAR_055601
VAR_055601 disease not phenotype-associated
VAR_055602 commonName VAR_055602
VAR_055602 disease not phenotype-associated
VAR_055603 commonName VAR_055603
VAR_055603 disease not phenotype-associated
VAR_055604 commonName VAR_055604
VAR_055604 disease not phenotype-associated
VAR_055605 commonName VAR_055605
VAR_055605 disease not phenotype-associated
VAR_055606 commonName VAR_055606
VAR_055606 disease not phenotype-associated
VAR_055607 commonName VAR_055607
VAR_055607 disease not phenotype-associated
VAR_055608 commonName VAR_055608
VAR_055608 disease not phenotype-associated
VAR_055609 commonName VAR_055609
VAR_055609 disease not phenotype-associated
VAR_055610 commonName VAR_055610
VAR_055610 disease not phenotype-associated
VAR_055611 commonName VAR_055611
VAR_055611 disease not phenotype-associated
VAR_055612 commonName VAR_055612
VAR_055612 disease not phenotype-associated
VAR_055613 commonName VAR_055613
VAR_055613 disease not phenotype-associated
VAR_055614 commonName VAR_055614
VAR_055614 disease not phenotype-associated
VAR_055615 commonName VAR_055615
VAR_055615 disease not phenotype-associated
VAR_055616 commonName VAR_055616
VAR_055616 disease not phenotype-associated
VAR_055617 commonName VAR_055617
VAR_055617 disease not phenotype-associated
VAR_055618 commonName VAR_055618
VAR_055618 disease not phenotype-associated
VAR_055619 commonName VAR_055619
VAR_055619 disease not phenotype-associated
VAR_055620 commonName VAR_055620
VAR_055620 disease not phenotype-associated
VAR_055621 commonName VAR_055621
VAR_055621 disease not phenotype-associated
VAR_055622 commonName VAR_055622
VAR_055622 disease not phenotype-associated
VAR_055632 commonName VAR_055632
VAR_055632 disease not phenotype-associated
VAR_055633 commonName VAR_055633
VAR_055633 disease not phenotype-associated
VAR_055634 commonName VAR_055634
VAR_055634 disease not phenotype-associated
VAR_055635 commonName VAR_055635
VAR_055635 disease not phenotype-associated
VAR_055636 commonName VAR_055636
VAR_055636 disease not phenotype-associated
VAR_055638 commonName VAR_055638
VAR_055638 disease not phenotype-associated
VAR_055641 commonName VAR_055641
VAR_055641 disease not phenotype-associated
VAR_055642 commonName VAR_055642
VAR_055642 disease not phenotype-associated
VAR_055643 commonName VAR_055643
VAR_055643 disease not phenotype-associated
VAR_055644 commonName VAR_055644
VAR_055644 disease not phenotype-associated
VAR_055645 commonName VAR_055645
VAR_055645 disease not phenotype-associated
VAR_055647 commonName VAR_055647
VAR_055647 disease not phenotype-associated
VAR_055648 commonName VAR_055648
VAR_055648 disease not phenotype-associated
VAR_055649 commonName VAR_055649
VAR_055649 disease not phenotype-associated
VAR_055650 commonName VAR_055650
VAR_055650 disease not phenotype-associated
VAR_055652 commonName VAR_055652
VAR_055652 disease not phenotype-associated
VAR_055653 commonName VAR_055653
VAR_055653 disease not phenotype-associated
VAR_055654 commonName VAR_055654
VAR_055654 disease not phenotype-associated
VAR_055655 commonName VAR_055655
VAR_055655 disease not phenotype-associated
VAR_055656 commonName VAR_055656
VAR_055656 disease not phenotype-associated
VAR_055657 commonName VAR_055657
VAR_055657 disease not phenotype-associated
VAR_055658 commonName VAR_055658
VAR_055658 disease not phenotype-associated
VAR_055659 commonName VAR_055659
VAR_055659 disease not phenotype-associated
VAR_055661 commonName VAR_055661
VAR_055661 disease not phenotype-associated
VAR_055662 commonName VAR_055662
VAR_055662 disease not phenotype-associated
VAR_055664 commonName VAR_055664
VAR_055664 disease not phenotype-associated
VAR_055665 commonName VAR_055665
VAR_055665 disease not phenotype-associated
VAR_055666 commonName VAR_055666
VAR_055666 disease not phenotype-associated
VAR_055667 commonName VAR_055667
VAR_055667 disease not phenotype-associated
VAR_055668 commonName VAR_055668
VAR_055668 disease not phenotype-associated
VAR_055669 commonName VAR_055669
VAR_055669 disease not phenotype-associated
VAR_055670 commonName VAR_055670
VAR_055670 disease not phenotype-associated
VAR_055671 commonName VAR_055671
VAR_055671 disease not phenotype-associated
VAR_055672 commonName VAR_055672
VAR_055672 disease not phenotype-associated
VAR_055673 commonName VAR_055673
VAR_055673 disease not phenotype-associated
VAR_055674 commonName VAR_055674
VAR_055674 disease not phenotype-associated
VAR_055675 commonName VAR_055675
VAR_055675 disease not phenotype-associated
VAR_055676 commonName VAR_055676
VAR_055676 disease not phenotype-associated
VAR_055677 commonName VAR_055677
VAR_055677 disease not phenotype-associated
VAR_055678 commonName VAR_055678
VAR_055678 disease not phenotype-associated
VAR_055679 commonName VAR_055679
VAR_055679 disease not phenotype-associated
VAR_055680 commonName VAR_055680
VAR_055680 disease not phenotype-associated
VAR_055681 commonName VAR_055681
VAR_055681 disease not phenotype-associated
VAR_055682 commonName VAR_055682
VAR_055682 disease not phenotype-associated
VAR_055683 commonName VAR_055683
VAR_055683 disease not phenotype-associated
VAR_055684 commonName VAR_055684
VAR_055684 disease not phenotype-associated
VAR_055685 commonName VAR_055685
VAR_055685 disease not phenotype-associated
VAR_055686 commonName VAR_055686
VAR_055686 disease not phenotype-associated
VAR_055687 commonName VAR_055687
VAR_055687 disease not phenotype-associated
VAR_055688 commonName VAR_055688
VAR_055688 disease not phenotype-associated
VAR_055689 commonName VAR_055689
VAR_055689 disease not phenotype-associated
VAR_055690 commonName VAR_055690
VAR_055690 disease not phenotype-associated
VAR_055691 commonName VAR_055691
VAR_055691 disease not phenotype-associated
VAR_055692 commonName VAR_055692
VAR_055692 disease not phenotype-associated
VAR_055693 commonName VAR_055693
VAR_055693 disease not phenotype-associated
VAR_055694 commonName VAR_055694
VAR_055694 disease not phenotype-associated
VAR_055695 commonName VAR_055695
VAR_055695 disease not phenotype-associated
VAR_055696 commonName VAR_055696
VAR_055696 disease not phenotype-associated
VAR_055697 commonName VAR_055697
VAR_055697 disease not phenotype-associated
VAR_055698 commonName VAR_055698
VAR_055698 disease not phenotype-associated
VAR_055699 commonName VAR_055699
VAR_055699 disease not phenotype-associated
VAR_055700 commonName VAR_055700
VAR_055700 disease not phenotype-associated
VAR_055701 commonName VAR_055701
VAR_055701 disease not phenotype-associated
VAR_055702 commonName VAR_055702
VAR_055702 disease not phenotype-associated
VAR_055703 commonName VAR_055703
VAR_055703 disease not phenotype-associated
VAR_055704 commonName VAR_055704
VAR_055704 disease not phenotype-associated
VAR_055706 commonName VAR_055706
VAR_055706 disease not phenotype-associated
VAR_055707 commonName VAR_055707
VAR_055707 disease not phenotype-associated
VAR_055708 commonName VAR_055708
VAR_055708 disease not phenotype-associated
VAR_055709 commonName VAR_055709
VAR_055709 disease not phenotype-associated
VAR_055710 commonName VAR_055710
VAR_055710 disease not phenotype-associated
VAR_055711 commonName VAR_055711
VAR_055711 disease not phenotype-associated
VAR_055712 commonName VAR_055712
VAR_055712 disease not phenotype-associated
VAR_055714 commonName VAR_055714
VAR_055714 disease not phenotype-associated
VAR_055715 commonName VAR_055715
VAR_055715 disease not phenotype-associated
VAR_055716 commonName VAR_055716
VAR_055716 disease not phenotype-associated
VAR_055717 commonName VAR_055717
VAR_055717 disease not phenotype-associated
VAR_055718 commonName VAR_055718
VAR_055718 disease not phenotype-associated
VAR_055719 commonName VAR_055719
VAR_055719 disease not phenotype-associated
VAR_055720 commonName VAR_055720
VAR_055720 disease not phenotype-associated
VAR_055722 commonName VAR_055722
VAR_055722 disease not phenotype-associated
VAR_055736 commonName VAR_055736
VAR_055736 disease not phenotype-associated
VAR_055737 commonName VAR_055737
VAR_055737 disease not phenotype-associated
VAR_055738 commonName VAR_055738
VAR_055738 disease not phenotype-associated
VAR_055739 commonName VAR_055739
VAR_055739 disease not phenotype-associated
VAR_055740 commonName VAR_055740
VAR_055740 disease not phenotype-associated
VAR_055741 commonName VAR_055741
VAR_055741 disease not phenotype-associated
VAR_055742 commonName VAR_055742
VAR_055742 disease not phenotype-associated
VAR_055743 commonName VAR_055743
VAR_055743 disease not phenotype-associated
VAR_055744 commonName VAR_055744
VAR_055744 disease not phenotype-associated
VAR_055745 commonName VAR_055745
VAR_055745 disease not phenotype-associated
VAR_055746 commonName VAR_055746
VAR_055746 disease not phenotype-associated
VAR_055747 commonName VAR_055747
VAR_055747 disease not phenotype-associated
VAR_055748 commonName VAR_055748
VAR_055748 disease not phenotype-associated
VAR_055749 commonName VAR_055749
VAR_055749 disease not phenotype-associated
VAR_055750 commonName VAR_055750
VAR_055750 disease not phenotype-associated
VAR_055751 commonName VAR_055751
VAR_055751 disease not phenotype-associated
VAR_055752 commonName VAR_055752
VAR_055752 disease not phenotype-associated
VAR_055753 commonName VAR_055753
VAR_055753 disease not phenotype-associated
VAR_055754 commonName VAR_055754
VAR_055754 disease not phenotype-associated
VAR_055755 commonName VAR_055755
VAR_055755 disease not phenotype-associated
VAR_055756 commonName VAR_055756
VAR_055756 disease not phenotype-associated
VAR_055757 commonName VAR_055757
VAR_055757 disease not phenotype-associated
VAR_055760 commonName VAR_055760
VAR_055760 disease not phenotype-associated
VAR_055761 commonName VAR_055761
VAR_055761 disease not phenotype-associated
VAR_055762 commonName VAR_055762
VAR_055762 disease not phenotype-associated
VAR_055763 commonName VAR_055763
VAR_055763 disease not phenotype-associated
VAR_055764 commonName VAR_055764
VAR_055764 disease not phenotype-associated
VAR_055765 commonName VAR_055765
VAR_055765 disease not phenotype-associated
VAR_055766 commonName VAR_055766
VAR_055766 disease not phenotype-associated
VAR_055767 commonName VAR_055767
VAR_055767 disease not phenotype-associated
VAR_055768 commonName VAR_055768
VAR_055768 disease not phenotype-associated
VAR_055769 commonName VAR_055769
VAR_055769 disease not phenotype-associated
VAR_055770 commonName VAR_055770
VAR_055770 disease not phenotype-associated
VAR_055771 commonName VAR_055771
VAR_055771 disease not phenotype-associated
VAR_055772 commonName VAR_055772
VAR_055772 disease not phenotype-associated
VAR_055773 commonName VAR_055773
VAR_055773 disease not phenotype-associated
VAR_055774 commonName VAR_055774
VAR_055774 disease not phenotype-associated
VAR_055775 commonName VAR_055775
VAR_055775 disease not phenotype-associated
VAR_055778 commonName VAR_055778
VAR_055778 disease not phenotype-associated
VAR_055779 commonName VAR_055779
VAR_055779 disease not phenotype-associated
VAR_055780 commonName VAR_055780
VAR_055780 disease not phenotype-associated
VAR_055785 commonName VAR_055785
VAR_055785 disease not phenotype-associated
VAR_055786 commonName VAR_055786
VAR_055786 disease not phenotype-associated
VAR_055787 commonName VAR_055787
VAR_055787 disease not phenotype-associated
VAR_055788 commonName VAR_055788
VAR_055788 disease not phenotype-associated
VAR_055789 commonName VAR_055789
VAR_055789 disease not phenotype-associated
VAR_055790 commonName VAR_055790
VAR_055790 disease not phenotype-associated
VAR_055791 commonName VAR_055791
VAR_055791 disease not phenotype-associated
VAR_055792 commonName VAR_055792
VAR_055792 disease not phenotype-associated
VAR_055793 commonName VAR_055793
VAR_055793 disease not phenotype-associated
VAR_055794 commonName VAR_055794
VAR_055794 disease not phenotype-associated
VAR_055795 commonName VAR_055795
VAR_055795 disease not phenotype-associated
VAR_055796 commonName VAR_055796
VAR_055796 disease not phenotype-associated
VAR_055797 commonName VAR_055797
VAR_055797 disease not phenotype-associated
VAR_055798 commonName VAR_055798
VAR_055798 disease not phenotype-associated
VAR_055799 commonName VAR_055799
VAR_055799 disease not phenotype-associated
VAR_055801 commonName VAR_055801
VAR_055801 disease not phenotype-associated
VAR_055803 commonName VAR_055803
VAR_055803 disease not phenotype-associated
VAR_055804 commonName VAR_055804
VAR_055804 disease not phenotype-associated
VAR_055805 commonName VAR_055805
VAR_055805 disease not phenotype-associated
VAR_055806 commonName VAR_055806
VAR_055806 disease not phenotype-associated
VAR_055819 commonName VAR_055819
VAR_055819 disease not phenotype-associated
VAR_055822 commonName VAR_055822
VAR_055822 disease not phenotype-associated
VAR_055823 commonName VAR_055823
VAR_055823 disease not phenotype-associated
VAR_055824 commonName VAR_055824
VAR_055824 disease not phenotype-associated
VAR_055825 commonName VAR_055825
VAR_055825 disease not phenotype-associated
VAR_055826 commonName VAR_055826
VAR_055826 disease not phenotype-associated
VAR_055827 commonName VAR_055827
VAR_055827 disease not phenotype-associated
VAR_055828 commonName VAR_055828
VAR_055828 disease not phenotype-associated
VAR_055829 commonName VAR_055829
VAR_055829 disease not phenotype-associated
VAR_055830 commonName VAR_055830
VAR_055830 disease not phenotype-associated
VAR_055831 commonName VAR_055831
VAR_055831 disease not phenotype-associated
VAR_055832 commonName VAR_055832
VAR_055832 disease not phenotype-associated
VAR_055833 commonName VAR_055833
VAR_055833 disease not phenotype-associated
VAR_055835 commonName VAR_055835
VAR_055835 disease not phenotype-associated
VAR_055836 commonName VAR_055836
VAR_055836 disease not phenotype-associated
VAR_055837 commonName VAR_055837
VAR_055837 disease not phenotype-associated
VAR_055839 commonName VAR_055839
VAR_055839 disease not phenotype-associated
VAR_055840 commonName VAR_055840
VAR_055840 disease not phenotype-associated
VAR_055841 commonName VAR_055841
VAR_055841 disease not phenotype-associated
VAR_055844 commonName VAR_055844
VAR_055844 disease not phenotype-associated
VAR_055845 commonName VAR_055845
VAR_055845 disease not phenotype-associated
VAR_055846 commonName VAR_055846
VAR_055846 disease not phenotype-associated
VAR_055847 commonName VAR_055847
VAR_055847 disease not phenotype-associated
VAR_055848 commonName VAR_055848
VAR_055848 disease not phenotype-associated
VAR_055849 commonName VAR_055849
VAR_055849 disease not phenotype-associated
VAR_055850 commonName VAR_055850
VAR_055850 disease not phenotype-associated
VAR_055851 commonName VAR_055851
VAR_055851 disease not phenotype-associated
VAR_055852 commonName VAR_055852
VAR_055852 disease not phenotype-associated
VAR_055853 commonName VAR_055853
VAR_055853 disease not phenotype-associated
VAR_055854 commonName VAR_055854
VAR_055854 disease not phenotype-associated
VAR_055855 commonName VAR_055855
VAR_055855 disease not phenotype-associated
VAR_055856 commonName VAR_055856
VAR_055856 disease not phenotype-associated
VAR_055857 commonName VAR_055857
VAR_055857 disease not phenotype-associated
VAR_055858 commonName VAR_055858
VAR_055858 disease not phenotype-associated
VAR_055859 commonName VAR_055859
VAR_055859 disease not phenotype-associated
VAR_055860 commonName VAR_055860
VAR_055860 disease not phenotype-associated
VAR_055861 commonName VAR_055861
VAR_055861 disease not phenotype-associated
VAR_055862 commonName VAR_055862
VAR_055862 disease not phenotype-associated
VAR_055863 commonName VAR_055863
VAR_055863 disease not phenotype-associated
VAR_055864 commonName VAR_055864
VAR_055864 disease not phenotype-associated
VAR_055865 commonName VAR_055865
VAR_055865 disease not phenotype-associated
VAR_055866 commonName VAR_055866
VAR_055866 disease not phenotype-associated
VAR_055867 commonName VAR_055867
VAR_055867 disease not phenotype-associated
VAR_055868 commonName VAR_055868
VAR_055868 disease not phenotype-associated
VAR_055869 commonName VAR_055869
VAR_055869 disease not phenotype-associated
VAR_055870 commonName VAR_055870
VAR_055870 disease not phenotype-associated
VAR_055871 commonName VAR_055871
VAR_055871 disease not phenotype-associated
VAR_055875 commonName VAR_055875
VAR_055875 disease not phenotype-associated
VAR_055876 commonName VAR_055876
VAR_055876 disease not phenotype-associated
VAR_055877 commonName VAR_055877
VAR_055877 disease not phenotype-associated
VAR_055878 commonName VAR_055878
VAR_055878 disease not phenotype-associated
VAR_055879 commonName VAR_055879
VAR_055879 disease not phenotype-associated
VAR_055880 commonName VAR_055880
VAR_055880 disease not phenotype-associated
VAR_055881 commonName VAR_055881
VAR_055881 disease not phenotype-associated
VAR_055882 commonName VAR_055882
VAR_055882 disease not phenotype-associated
VAR_055883 commonName VAR_055883
VAR_055883 disease not phenotype-associated
VAR_055884 commonName VAR_055884
VAR_055884 disease not phenotype-associated
VAR_055885 commonName VAR_055885
VAR_055885 disease not phenotype-associated
VAR_055886 commonName VAR_055886
VAR_055886 disease not phenotype-associated
VAR_055887 commonName VAR_055887
VAR_055887 disease not phenotype-associated
VAR_055892 commonName VAR_055892
VAR_055892 disease not phenotype-associated
VAR_055893 commonName VAR_055893
VAR_055893 disease not phenotype-associated
VAR_055894 commonName VAR_055894
VAR_055894 disease not phenotype-associated
VAR_055895 commonName VAR_055895
VAR_055895 disease not phenotype-associated
VAR_055896 commonName VAR_055896
VAR_055896 disease not phenotype-associated
VAR_055897 commonName VAR_055897
VAR_055897 disease not phenotype-associated
VAR_055898 commonName VAR_055898
VAR_055898 disease not phenotype-associated
VAR_055899 commonName VAR_055899
VAR_055899 disease not phenotype-associated
VAR_055900 commonName VAR_055900
VAR_055900 disease not phenotype-associated
VAR_055902 commonName VAR_055902
VAR_055902 disease not phenotype-associated
VAR_055903 commonName VAR_055903
VAR_055903 disease not phenotype-associated
VAR_055904 commonName VAR_055904
VAR_055904 disease not phenotype-associated
VAR_055905 commonName VAR_055905
VAR_055905 disease not phenotype-associated
VAR_055908 commonName VAR_055908
VAR_055908 disease not phenotype-associated
VAR_055909 commonName VAR_055909
VAR_055909 disease not phenotype-associated
VAR_055910 commonName VAR_055910
VAR_055910 disease not phenotype-associated
VAR_055911 commonName VAR_055911
VAR_055911 disease not phenotype-associated
VAR_055912 commonName VAR_055912
VAR_055912 disease not phenotype-associated
VAR_055913 commonName VAR_055913
VAR_055913 disease not phenotype-associated
VAR_055914 commonName VAR_055914
VAR_055914 disease not phenotype-associated
VAR_055915 commonName VAR_055915
VAR_055915 disease not phenotype-associated
VAR_055916 commonName VAR_055916
VAR_055916 disease not phenotype-associated
VAR_055917 commonName VAR_055917
VAR_055917 disease not phenotype-associated
VAR_055918 commonName VAR_055918
VAR_055918 disease not phenotype-associated
VAR_055919 commonName VAR_055919
VAR_055919 disease not phenotype-associated
VAR_055920 commonName VAR_055920
VAR_055920 disease not phenotype-associated
VAR_055921 commonName VAR_055921
VAR_055921 disease not phenotype-associated
VAR_055922 commonName VAR_055922
VAR_055922 disease not phenotype-associated
VAR_055923 commonName VAR_055923
VAR_055923 disease not phenotype-associated
VAR_055924 commonName VAR_055924
VAR_055924 disease not phenotype-associated
VAR_055925 commonName VAR_055925
VAR_055925 disease not phenotype-associated
VAR_055926 commonName VAR_055926
VAR_055926 disease not phenotype-associated
VAR_055927 commonName VAR_055927
VAR_055927 disease not phenotype-associated
VAR_055929 commonName VAR_055929
VAR_055929 disease not phenotype-associated
VAR_055930 commonName VAR_055930
VAR_055930 disease not phenotype-associated
VAR_055931 commonName VAR_055931
VAR_055931 disease not phenotype-associated
VAR_055932 commonName VAR_055932
VAR_055932 disease not phenotype-associated
VAR_055933 commonName VAR_055933
VAR_055933 disease not phenotype-associated
VAR_055934 commonName VAR_055934
VAR_055934 disease not phenotype-associated
VAR_055935 commonName VAR_055935
VAR_055935 disease not phenotype-associated
VAR_055936 commonName VAR_055936
VAR_055936 disease not phenotype-associated
VAR_055937 commonName VAR_055937
VAR_055937 disease not phenotype-associated
VAR_055938 commonName VAR_055938
VAR_055938 disease not phenotype-associated
VAR_055939 commonName VAR_055939
VAR_055939 disease not phenotype-associated
VAR_055940 commonName VAR_055940
VAR_055940 disease not phenotype-associated
VAR_055941 commonName VAR_055941
VAR_055941 disease not phenotype-associated
VAR_055942 commonName VAR_055942
VAR_055942 disease not phenotype-associated
VAR_055943 commonName VAR_055943
VAR_055943 disease not phenotype-associated
VAR_055944 commonName VAR_055944
VAR_055944 disease not phenotype-associated
VAR_055945 commonName VAR_055945
VAR_055945 disease not phenotype-associated
VAR_055946 commonName VAR_055946
VAR_055946 disease not phenotype-associated
VAR_055947 commonName VAR_055947
VAR_055947 disease not phenotype-associated
VAR_055948 commonName VAR_055948
VAR_055948 disease not phenotype-associated
VAR_055949 commonName VAR_055949
VAR_055949 disease not phenotype-associated
VAR_055950 commonName VAR_055950
VAR_055950 disease not phenotype-associated
VAR_055952 commonName VAR_055952
VAR_055952 disease not phenotype-associated
VAR_055953 commonName VAR_055953
VAR_055953 disease not phenotype-associated
VAR_055954 commonName VAR_055954
VAR_055954 disease not phenotype-associated
VAR_055955 commonName VAR_055955
VAR_055955 disease not phenotype-associated
VAR_055956 commonName VAR_055956
VAR_055956 disease not phenotype-associated
VAR_055957 commonName VAR_055957
VAR_055957 disease not phenotype-associated
VAR_055959 commonName VAR_055959
VAR_055959 disease not phenotype-associated
VAR_055960 commonName VAR_055960
VAR_055960 disease not phenotype-associated
VAR_055961 commonName VAR_055961
VAR_055961 disease not phenotype-associated
VAR_055962 commonName VAR_055962
VAR_055962 disease not phenotype-associated
VAR_055963 commonName VAR_055963
VAR_055963 disease not phenotype-associated
VAR_055964 commonName VAR_055964
VAR_055964 disease not phenotype-associated
VAR_055965 commonName VAR_055965
VAR_055965 disease not phenotype-associated
VAR_055966 commonName VAR_055966
VAR_055966 disease not phenotype-associated
VAR_055967 commonName VAR_055967
VAR_055967 disease not phenotype-associated
VAR_055968 commonName VAR_055968
VAR_055968 disease not phenotype-associated
VAR_055969 commonName VAR_055969
VAR_055969 disease not phenotype-associated
VAR_055970 commonName VAR_055970
VAR_055970 disease not phenotype-associated
VAR_055971 commonName VAR_055971
VAR_055971 disease not phenotype-associated
VAR_055973 commonName VAR_055973
VAR_055973 disease not phenotype-associated
VAR_055974 commonName VAR_055974
VAR_055974 disease not phenotype-associated
VAR_055975 commonName VAR_055975
VAR_055975 disease not phenotype-associated
VAR_055976 commonName VAR_055976
VAR_055976 disease not phenotype-associated
VAR_055977 commonName VAR_055977
VAR_055977 disease not phenotype-associated
VAR_055979 commonName VAR_055979
VAR_055979 disease not phenotype-associated
VAR_055980 commonName VAR_055980
VAR_055980 disease not phenotype-associated
VAR_055981 commonName VAR_055981
VAR_055981 disease not phenotype-associated
VAR_055983 commonName VAR_055983
VAR_055983 disease not phenotype-associated
VAR_055984 commonName VAR_055984
VAR_055984 disease not phenotype-associated
VAR_055985 commonName VAR_055985
VAR_055985 disease not phenotype-associated
VAR_055987 commonName VAR_055987
VAR_055987 disease not phenotype-associated
VAR_055988 commonName VAR_055988
VAR_055988 disease not phenotype-associated
VAR_055989 commonName VAR_055989
VAR_055989 disease not phenotype-associated
VAR_055990 commonName VAR_055990
VAR_055990 disease not phenotype-associated
VAR_055991 commonName VAR_055991
VAR_055991 disease not phenotype-associated
VAR_055992 commonName VAR_055992
VAR_055992 disease not phenotype-associated
VAR_055993 commonName VAR_055993
VAR_055993 disease not phenotype-associated
VAR_055994 commonName VAR_055994
VAR_055994 disease not phenotype-associated
VAR_055995 commonName VAR_055995
VAR_055995 disease not phenotype-associated
VAR_055996 commonName VAR_055996
VAR_055996 disease not phenotype-associated
VAR_055998 commonName VAR_055998
VAR_055998 disease not phenotype-associated
VAR_055999 commonName VAR_055999
VAR_055999 disease not phenotype-associated
VAR_056000 commonName VAR_056000
VAR_056000 disease not phenotype-associated
VAR_056001 commonName VAR_056001
VAR_056001 disease not phenotype-associated
VAR_056002 commonName VAR_056002
VAR_056002 disease not phenotype-associated
VAR_056003 commonName VAR_056003
VAR_056003 disease not phenotype-associated
VAR_056004 commonName VAR_056004
VAR_056004 disease not phenotype-associated
VAR_056005 commonName VAR_056005
VAR_056005 disease not phenotype-associated
VAR_056006 commonName VAR_056006
VAR_056006 disease not phenotype-associated
VAR_056007 commonName VAR_056007
VAR_056007 disease not phenotype-associated
VAR_056008 commonName VAR_056008
VAR_056008 disease not phenotype-associated
VAR_056009 commonName VAR_056009
VAR_056009 disease not phenotype-associated
VAR_056010 commonName VAR_056010
VAR_056010 disease not phenotype-associated
VAR_056011 commonName VAR_056011
VAR_056011 disease not phenotype-associated
VAR_056012 commonName VAR_056012
VAR_056012 disease not phenotype-associated
VAR_056013 commonName VAR_056013
VAR_056013 disease not phenotype-associated
VAR_056014 commonName VAR_056014
VAR_056014 disease not phenotype-associated
VAR_056015 commonName VAR_056015
VAR_056015 disease not phenotype-associated
VAR_056016 commonName VAR_056016
VAR_056016 disease not phenotype-associated
VAR_056017 commonName VAR_056017
VAR_056017 disease not phenotype-associated
VAR_056018 commonName VAR_056018
VAR_056018 disease not phenotype-associated
VAR_056019 commonName VAR_056019
VAR_056019 disease not phenotype-associated
VAR_056020 commonName VAR_056020
VAR_056020 disease not phenotype-associated
VAR_056021 commonName VAR_056021
VAR_056021 disease not phenotype-associated
VAR_056022 commonName VAR_056022
VAR_056022 disease not phenotype-associated
VAR_056023 commonName VAR_056023
VAR_056023 disease not phenotype-associated
VAR_056027 commonName VAR_056027
VAR_056027 disease not phenotype-associated
VAR_056028 commonName VAR_056028
VAR_056028 disease not phenotype-associated
VAR_056029 commonName VAR_056029
VAR_056029 disease not phenotype-associated
VAR_056030 commonName VAR_056030
VAR_056030 disease not phenotype-associated
VAR_056031 commonName VAR_056031
VAR_056031 disease not phenotype-associated
VAR_056032 commonName VAR_056032
VAR_056032 disease not phenotype-associated
VAR_056033 commonName VAR_056033
VAR_056033 disease not phenotype-associated
VAR_056034 commonName VAR_056034
VAR_056034 disease not phenotype-associated
VAR_056035 commonName VAR_056035
VAR_056035 disease not phenotype-associated
VAR_056036 commonName VAR_056036
VAR_056036 disease not phenotype-associated
VAR_056037 commonName VAR_056037
VAR_056037 disease not phenotype-associated
VAR_056038 commonName VAR_056038
VAR_056038 disease not phenotype-associated
VAR_056039 commonName VAR_056039
VAR_056039 disease not phenotype-associated
VAR_056040 commonName VAR_056040
VAR_056040 disease not phenotype-associated
VAR_056041 commonName VAR_056041
VAR_056041 disease not phenotype-associated
VAR_056042 commonName VAR_056042
VAR_056042 disease not phenotype-associated
VAR_056043 commonName VAR_056043
VAR_056043 disease not phenotype-associated
VAR_056044 commonName VAR_056044
VAR_056044 disease not phenotype-associated
VAR_056045 commonName VAR_056045
VAR_056045 disease not phenotype-associated
VAR_056046 commonName VAR_056046
VAR_056046 disease not phenotype-associated
VAR_056047 commonName VAR_056047
VAR_056047 disease not phenotype-associated
VAR_056048 commonName VAR_056048
VAR_056048 disease not phenotype-associated
VAR_056049 commonName VAR_056049
VAR_056049 disease not phenotype-associated
VAR_056051 commonName VAR_056051
VAR_056051 disease not phenotype-associated
VAR_056052 commonName VAR_056052
VAR_056052 disease not phenotype-associated
VAR_056053 commonName VAR_056053
VAR_056053 disease not phenotype-associated
VAR_056054 commonName VAR_056054
VAR_056054 disease not phenotype-associated
VAR_056055 commonName VAR_056055
VAR_056055 disease not phenotype-associated
VAR_056057 commonName VAR_056057
VAR_056057 disease not phenotype-associated
VAR_056058 commonName VAR_056058
VAR_056058 disease not phenotype-associated
VAR_056059 commonName VAR_056059
VAR_056059 disease not phenotype-associated
VAR_056060 commonName VAR_056060
VAR_056060 disease not phenotype-associated
VAR_056061 commonName VAR_056061
VAR_056061 disease not phenotype-associated
VAR_056062 commonName VAR_056062
VAR_056062 disease not phenotype-associated
VAR_056063 commonName VAR_056063
VAR_056063 disease not phenotype-associated
VAR_056064 commonName VAR_056064
VAR_056064 disease not phenotype-associated
VAR_056065 commonName VAR_056065
VAR_056065 disease not phenotype-associated
VAR_056066 commonName VAR_056066
VAR_056066 disease not phenotype-associated
VAR_056067 commonName VAR_056067
VAR_056067 disease not phenotype-associated
VAR_056068 commonName VAR_056068
VAR_056068 disease not phenotype-associated
VAR_056069 commonName VAR_056069
VAR_056069 disease not phenotype-associated
VAR_056070 commonName VAR_056070
VAR_056070 disease not phenotype-associated
VAR_056071 commonName VAR_056071
VAR_056071 disease not phenotype-associated
VAR_056072 commonName VAR_056072
VAR_056072 disease not phenotype-associated
VAR_056073 commonName VAR_056073
VAR_056073 disease not phenotype-associated
VAR_056074 commonName VAR_056074
VAR_056074 disease not phenotype-associated
VAR_056075 commonName VAR_056075
VAR_056075 disease not phenotype-associated
VAR_056076 commonName VAR_056076
VAR_056076 disease not phenotype-associated
VAR_056077 commonName VAR_056077
VAR_056077 disease not phenotype-associated
VAR_056078 commonName VAR_056078
VAR_056078 disease not phenotype-associated
VAR_056079 commonName VAR_056079
VAR_056079 disease not phenotype-associated
VAR_056080 commonName VAR_056080
VAR_056080 disease not phenotype-associated
VAR_056090 commonName VAR_056090
VAR_056090 disease not phenotype-associated
VAR_056092 commonName VAR_056092
VAR_056092 disease not phenotype-associated
VAR_056098 commonName VAR_056098
VAR_056098 disease not phenotype-associated
VAR_056099 commonName VAR_056099
VAR_056099 disease not phenotype-associated
VAR_056100 commonName VAR_056100
VAR_056100 disease not phenotype-associated
VAR_056101 commonName VAR_056101
VAR_056101 disease not phenotype-associated
VAR_056102 commonName VAR_056102
VAR_056102 disease not phenotype-associated
VAR_056103 commonName VAR_056103
VAR_056103 disease not phenotype-associated
VAR_056104 commonName VAR_056104
VAR_056104 disease not phenotype-associated
VAR_056105 commonName VAR_056105
VAR_056105 disease not phenotype-associated
VAR_056106 commonName VAR_056106
VAR_056106 disease not phenotype-associated
VAR_056107 commonName VAR_056107
VAR_056107 disease not phenotype-associated
VAR_056108 commonName VAR_056108
VAR_056108 disease not phenotype-associated
VAR_056109 commonName VAR_056109
VAR_056109 disease not phenotype-associated
VAR_056111 commonName VAR_056111
VAR_056111 disease not phenotype-associated
VAR_056112 commonName VAR_056112
VAR_056112 disease not phenotype-associated
VAR_056113 commonName VAR_056113
VAR_056113 disease not phenotype-associated
VAR_056115 commonName VAR_056115
VAR_056115 disease not phenotype-associated
VAR_056116 commonName VAR_056116
VAR_056116 disease not phenotype-associated
VAR_056117 commonName VAR_056117
VAR_056117 disease not phenotype-associated
VAR_056118 commonName VAR_056118
VAR_056118 disease not phenotype-associated
VAR_056119 commonName VAR_056119
VAR_056119 disease not phenotype-associated
VAR_056120 commonName VAR_056120
VAR_056120 disease not phenotype-associated
VAR_056122 commonName VAR_056122
VAR_056122 disease not phenotype-associated
VAR_056123 commonName VAR_056123
VAR_056123 disease not phenotype-associated
VAR_056124 commonName VAR_056124
VAR_056124 disease not phenotype-associated
VAR_056125 commonName VAR_056125
VAR_056125 disease not phenotype-associated
VAR_056126 commonName VAR_056126
VAR_056126 disease not phenotype-associated
VAR_056127 commonName VAR_056127
VAR_056127 disease not phenotype-associated
VAR_056128 commonName VAR_056128
VAR_056128 disease not phenotype-associated
VAR_056132 commonName VAR_056132
VAR_056132 disease not phenotype-associated
VAR_056133 commonName VAR_056133
VAR_056133 disease not phenotype-associated
VAR_056134 commonName VAR_056134
VAR_056134 disease not phenotype-associated
VAR_056135 commonName VAR_056135
VAR_056135 disease not phenotype-associated
VAR_056136 commonName VAR_056136
VAR_056136 disease not phenotype-associated
VAR_056137 commonName VAR_056137
VAR_056137 disease not phenotype-associated
VAR_056138 commonName VAR_056138
VAR_056138 disease not phenotype-associated
VAR_056140 commonName VAR_056140
VAR_056140 disease not phenotype-associated
VAR_056141 commonName VAR_056141
VAR_056141 disease not phenotype-associated
VAR_056142 commonName VAR_056142
VAR_056142 disease not phenotype-associated
VAR_056143 commonName VAR_056143
VAR_056143 disease not phenotype-associated
VAR_056144 commonName VAR_056144
VAR_056144 disease not phenotype-associated
VAR_056145 commonName VAR_056145
VAR_056145 disease not phenotype-associated
VAR_056146 commonName VAR_056146
VAR_056146 disease not phenotype-associated
VAR_056147 commonName VAR_056147
VAR_056147 disease not phenotype-associated
VAR_056148 commonName VAR_056148
VAR_056148 disease not phenotype-associated
VAR_056149 commonName VAR_056149
VAR_056149 disease not phenotype-associated
VAR_056150 commonName VAR_056150
VAR_056150 disease not phenotype-associated
VAR_056151 commonName VAR_056151
VAR_056151 disease not phenotype-associated
VAR_056156 commonName VAR_056156
VAR_056156 disease not phenotype-associated
VAR_056157 commonName VAR_056157
VAR_056157 disease not phenotype-associated
VAR_056158 commonName VAR_056158
VAR_056158 disease not phenotype-associated
VAR_056159 commonName VAR_056159
VAR_056159 disease not phenotype-associated
VAR_056160 commonName VAR_056160
VAR_056160 disease not phenotype-associated
VAR_056161 commonName VAR_056161
VAR_056161 disease not phenotype-associated
VAR_056162 commonName VAR_056162
VAR_056162 disease not phenotype-associated
VAR_056164 commonName VAR_056164
VAR_056164 disease not phenotype-associated
VAR_056166 commonName VAR_056166
VAR_056166 disease not phenotype-associated
VAR_056167 commonName VAR_056167
VAR_056167 disease not phenotype-associated
VAR_056168 commonName VAR_056168
VAR_056168 disease not phenotype-associated
VAR_056169 commonName VAR_056169
VAR_056169 disease not phenotype-associated
VAR_056170 commonName VAR_056170
VAR_056170 disease not phenotype-associated
VAR_056171 commonName VAR_056171
VAR_056171 disease not phenotype-associated
VAR_056172 commonName VAR_056172
VAR_056172 disease not phenotype-associated
VAR_056173 commonName VAR_056173
VAR_056173 disease not phenotype-associated
VAR_056174 commonName VAR_056174
VAR_056174 disease not phenotype-associated
VAR_056175 commonName VAR_056175
VAR_056175 disease not phenotype-associated
VAR_056176 commonName VAR_056176
VAR_056176 disease not phenotype-associated
VAR_056177 commonName VAR_056177
VAR_056177 disease not phenotype-associated
VAR_056178 commonName VAR_056178
VAR_056178 disease not phenotype-associated
VAR_056179 commonName VAR_056179
VAR_056179 disease not phenotype-associated
VAR_056180 commonName VAR_056180
VAR_056180 disease not phenotype-associated
VAR_056181 commonName VAR_056181
VAR_056181 disease not phenotype-associated
VAR_056182 commonName VAR_056182
VAR_056182 disease not phenotype-associated
VAR_056183 commonName VAR_056183
VAR_056183 disease not phenotype-associated
VAR_056184 commonName VAR_056184
VAR_056184 disease not phenotype-associated
VAR_056185 commonName VAR_056185
VAR_056185 disease not phenotype-associated
VAR_056186 commonName VAR_056186
VAR_056186 disease not phenotype-associated
VAR_056187 commonName VAR_056187
VAR_056187 disease not phenotype-associated
VAR_056188 commonName VAR_056188
VAR_056188 disease not phenotype-associated
VAR_056189 commonName VAR_056189
VAR_056189 disease not phenotype-associated
VAR_056190 commonName VAR_056190
VAR_056190 disease not phenotype-associated
VAR_056191 commonName VAR_056191
VAR_056191 disease not phenotype-associated
VAR_056192 commonName VAR_056192
VAR_056192 disease not phenotype-associated
VAR_056193 commonName VAR_056193
VAR_056193 disease not phenotype-associated
VAR_056194 commonName VAR_056194
VAR_056194 disease not phenotype-associated
VAR_056195 commonName VAR_056195
VAR_056195 disease not phenotype-associated
VAR_056196 commonName VAR_056196
VAR_056196 disease not phenotype-associated
VAR_056197 commonName VAR_056197
VAR_056197 disease not phenotype-associated
VAR_056198 commonName VAR_056198
VAR_056198 disease not phenotype-associated
VAR_056203 commonName VAR_056203
VAR_056203 disease not phenotype-associated
VAR_056204 commonName VAR_056204
VAR_056204 disease not phenotype-associated
VAR_056205 commonName VAR_056205
VAR_056205 disease not phenotype-associated
VAR_056206 commonName VAR_056206
VAR_056206 disease not phenotype-associated
VAR_056207 commonName VAR_056207
VAR_056207 disease not phenotype-associated
VAR_056208 commonName VAR_056208
VAR_056208 disease not phenotype-associated
VAR_056209 commonName VAR_056209
VAR_056209 disease not phenotype-associated
VAR_056210 commonName VAR_056210
VAR_056210 disease not phenotype-associated
VAR_056211 commonName VAR_056211
VAR_056211 disease not phenotype-associated
VAR_056212 commonName VAR_056212
VAR_056212 disease not phenotype-associated
VAR_056213 commonName VAR_056213
VAR_056213 disease not phenotype-associated
VAR_056214 commonName VAR_056214
VAR_056214 disease not phenotype-associated
VAR_056215 commonName VAR_056215
VAR_056215 disease not phenotype-associated
VAR_056216 commonName VAR_056216
VAR_056216 disease not phenotype-associated
VAR_056217 commonName VAR_056217
VAR_056217 disease not phenotype-associated
VAR_056218 commonName VAR_056218
VAR_056218 disease not phenotype-associated
VAR_056219 commonName VAR_056219
VAR_056219 disease not phenotype-associated
VAR_056220 commonName VAR_056220
VAR_056220 disease not phenotype-associated
VAR_056221 commonName VAR_056221
VAR_056221 disease not phenotype-associated
VAR_056222 commonName VAR_056222
VAR_056222 disease not phenotype-associated
VAR_056223 commonName VAR_056223
VAR_056223 disease not phenotype-associated
VAR_056224 commonName VAR_056224
VAR_056224 disease not phenotype-associated
VAR_056225 commonName VAR_056225
VAR_056225 disease not phenotype-associated
VAR_056226 commonName VAR_056226
VAR_056226 disease not phenotype-associated
VAR_056227 commonName VAR_056227
VAR_056227 disease not phenotype-associated
VAR_056228 commonName VAR_056228
VAR_056228 disease not phenotype-associated
VAR_056229 commonName VAR_056229
VAR_056229 disease not phenotype-associated
VAR_056230 commonName VAR_056230
VAR_056230 disease not phenotype-associated
VAR_056231 commonName VAR_056231
VAR_056231 disease not phenotype-associated
VAR_056232 commonName VAR_056232
VAR_056232 disease not phenotype-associated
VAR_056233 commonName VAR_056233
VAR_056233 disease not phenotype-associated
VAR_056234 commonName VAR_056234
VAR_056234 disease not phenotype-associated
VAR_056235 commonName VAR_056235
VAR_056235 disease not phenotype-associated
VAR_056236 commonName VAR_056236
VAR_056236 disease not phenotype-associated
VAR_056237 commonName VAR_056237
VAR_056237 disease not phenotype-associated
VAR_056238 commonName VAR_056238
VAR_056238 disease not phenotype-associated
VAR_056239 commonName VAR_056239
VAR_056239 disease not phenotype-associated
VAR_056240 commonName VAR_056240
VAR_056240 disease not phenotype-associated
VAR_056241 commonName VAR_056241
VAR_056241 disease not phenotype-associated
VAR_056242 commonName VAR_056242
VAR_056242 disease not phenotype-associated
VAR_056243 commonName VAR_056243
VAR_056243 disease not phenotype-associated
VAR_056244 commonName VAR_056244
VAR_056244 disease not phenotype-associated
VAR_056245 commonName VAR_056245
VAR_056245 disease not phenotype-associated
VAR_056575 commonName VAR_056575
VAR_056575 disease not phenotype-associated
VAR_056578 commonName VAR_056578
VAR_056578 disease not phenotype-associated
VAR_056579 commonName VAR_056579
VAR_056579 disease not phenotype-associated
VAR_056580 commonName VAR_056580
VAR_056580 disease not phenotype-associated
VAR_056581 commonName VAR_056581
VAR_056581 disease not phenotype-associated
VAR_056582 commonName VAR_056582
VAR_056582 disease not phenotype-associated
VAR_056583 commonName VAR_056583
VAR_056583 disease not phenotype-associated
VAR_056584 commonName VAR_056584
VAR_056584 disease not phenotype-associated
VAR_056588 commonName VAR_056588
VAR_056588 disease not phenotype-associated
VAR_056589 commonName VAR_056589
VAR_056589 disease not phenotype-associated
VAR_056590 commonName VAR_056590
VAR_056590 disease not phenotype-associated
VAR_056591 commonName VAR_056591
VAR_056591 disease not phenotype-associated
VAR_056642 commonName VAR_056642
VAR_056642 disease not phenotype-associated
VAR_056643 commonName VAR_056643
VAR_056643 disease not phenotype-associated
VAR_056644 commonName VAR_056644
VAR_056644 disease not phenotype-associated
VAR_056645 commonName VAR_056645
VAR_056645 disease not phenotype-associated
VAR_056646 commonName VAR_056646
VAR_056646 disease not phenotype-associated
VAR_056647 commonName VAR_056647
VAR_056647 disease not phenotype-associated
VAR_056648 commonName VAR_056648
VAR_056648 disease not phenotype-associated
VAR_056649 commonName VAR_056649
VAR_056649 disease not phenotype-associated
VAR_056650 commonName VAR_056650
VAR_056650 disease not phenotype-associated
VAR_056651 commonName VAR_056651
VAR_056651 disease not phenotype-associated
VAR_056654 commonName VAR_056654
VAR_056654 disease not phenotype-associated
VAR_056655 commonName VAR_056655
VAR_056655 disease not phenotype-associated
VAR_056656 commonName VAR_056656
VAR_056656 disease not phenotype-associated
VAR_056657 commonName VAR_056657
VAR_056657 disease not phenotype-associated
VAR_056658 commonName VAR_056658
VAR_056658 disease not phenotype-associated
VAR_056661 commonName VAR_056661
VAR_056661 disease not phenotype-associated
VAR_056663 commonName VAR_056663
VAR_056663 disease not phenotype-associated
VAR_056664 commonName VAR_056664
VAR_056664 disease not phenotype-associated
VAR_056665 commonName VAR_056665
VAR_056665 disease not phenotype-associated
VAR_056666 commonName VAR_056666
VAR_056666 disease not phenotype-associated
VAR_056667 commonName VAR_056667
VAR_056667 disease not phenotype-associated
VAR_056668 commonName VAR_056668
VAR_056668 disease not phenotype-associated
VAR_056669 commonName VAR_056669
VAR_056669 disease not phenotype-associated
VAR_056670 commonName VAR_056670
VAR_056670 disease not phenotype-associated
VAR_056671 commonName VAR_056671
VAR_056671 disease not phenotype-associated
VAR_056672 commonName VAR_056672
VAR_056672 disease not phenotype-associated
VAR_056673 commonName VAR_056673
VAR_056673 disease not phenotype-associated
VAR_056674 commonName VAR_056674
VAR_056674 disease not phenotype-associated
VAR_056675 commonName VAR_056675
VAR_056675 disease not phenotype-associated
VAR_056676 commonName VAR_056676
VAR_056676 disease not phenotype-associated
VAR_056677 commonName VAR_056677
VAR_056677 disease not phenotype-associated
VAR_056678 commonName VAR_056678
VAR_056678 disease not phenotype-associated
VAR_056679 commonName VAR_056679
VAR_056679 disease not phenotype-associated
VAR_056680 commonName VAR_056680
VAR_056680 disease not phenotype-associated
VAR_056681 commonName VAR_056681
VAR_056681 disease not phenotype-associated
VAR_056682 commonName VAR_056682
VAR_056682 disease not phenotype-associated
VAR_056683 commonName VAR_056683
VAR_056683 disease not phenotype-associated
VAR_056684 commonName VAR_056684
VAR_056684 disease not phenotype-associated
VAR_056685 commonName VAR_056685
VAR_056685 disease not phenotype-associated
VAR_056686 commonName VAR_056686
VAR_056686 disease not phenotype-associated
VAR_056693 commonName VAR_056693
VAR_056693 disease not phenotype-associated
VAR_056694 commonName VAR_056694
VAR_056694 disease not phenotype-associated
VAR_056695 commonName VAR_056695
VAR_056695 disease not phenotype-associated
VAR_056696 commonName VAR_056696
VAR_056696 disease not phenotype-associated
VAR_056697 commonName VAR_056697
VAR_056697 disease phenotype-associated
VAR_056697 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_056698 commonName VAR_056698
VAR_056698 disease not phenotype-associated
VAR_056699 commonName VAR_056699
VAR_056699 disease not phenotype-associated
VAR_056700 commonName VAR_056700
VAR_056700 disease not phenotype-associated
VAR_056701 commonName VAR_056701
VAR_056701 disease not phenotype-associated
VAR_056702 commonName VAR_056702
VAR_056702 disease not phenotype-associated
VAR_056703 commonName VAR_056703
VAR_056703 disease not phenotype-associated
VAR_056704 commonName VAR_056704
VAR_056704 disease not phenotype-associated
VAR_056705 commonName VAR_056705
VAR_056705 disease not phenotype-associated
VAR_056706 commonName VAR_056706
VAR_056706 disease not phenotype-associated
VAR_056707 commonName VAR_056707
VAR_056707 disease not phenotype-associated
VAR_056708 commonName VAR_056708
VAR_056708 disease not phenotype-associated
VAR_056709 commonName VAR_056709
VAR_056709 disease not phenotype-associated
VAR_056710 commonName VAR_056710
VAR_056710 disease not phenotype-associated
VAR_056711 commonName VAR_056711
VAR_056711 disease not phenotype-associated
VAR_056712 commonName VAR_056712
VAR_056712 disease not phenotype-associated
VAR_056713 commonName VAR_056713
VAR_056713 disease not phenotype-associated
VAR_056714 commonName VAR_056714
VAR_056714 disease not phenotype-associated
VAR_056715 commonName VAR_056715
VAR_056715 disease not phenotype-associated
VAR_056716 commonName VAR_056716
VAR_056716 disease not phenotype-associated
VAR_056717 commonName VAR_056717
VAR_056717 disease not phenotype-associated
VAR_056718 commonName VAR_056718
VAR_056718 disease not phenotype-associated
VAR_056719 commonName VAR_056719
VAR_056719 disease not phenotype-associated
VAR_056720 commonName VAR_056720
VAR_056720 disease not phenotype-associated
VAR_056722 commonName VAR_056722
VAR_056722 disease not phenotype-associated
VAR_056723 commonName VAR_056723
VAR_056723 disease not phenotype-associated
VAR_056724 commonName VAR_056724
VAR_056724 disease not phenotype-associated
VAR_056725 commonName VAR_056725
VAR_056725 disease not phenotype-associated
VAR_056726 commonName VAR_056726
VAR_056726 disease not phenotype-associated
VAR_056727 commonName VAR_056727
VAR_056727 disease not phenotype-associated
VAR_056728 commonName VAR_056728
VAR_056728 disease not phenotype-associated
VAR_056729 commonName VAR_056729
VAR_056729 disease not phenotype-associated
VAR_056730 commonName VAR_056730
VAR_056730 disease not phenotype-associated
VAR_056731 commonName VAR_056731
VAR_056731 disease not phenotype-associated
VAR_056732 commonName VAR_056732
VAR_056732 disease not phenotype-associated
VAR_056733 commonName VAR_056733
VAR_056733 disease not phenotype-associated
VAR_056734 commonName VAR_056734
VAR_056734 disease not phenotype-associated
VAR_056739 commonName VAR_056739
VAR_056739 disease not phenotype-associated
VAR_056740 commonName VAR_056740
VAR_056740 disease not phenotype-associated
VAR_056743 commonName VAR_056743
VAR_056743 disease not phenotype-associated
VAR_056744 commonName VAR_056744
VAR_056744 disease not phenotype-associated
VAR_056745 commonName VAR_056745
VAR_056745 disease not phenotype-associated
VAR_056746 commonName VAR_056746
VAR_056746 disease not phenotype-associated
VAR_056747 commonName VAR_056747
VAR_056747 disease not phenotype-associated
VAR_056748 commonName VAR_056748
VAR_056748 disease not phenotype-associated
VAR_056749 commonName VAR_056749
VAR_056749 disease not phenotype-associated
VAR_056750 commonName VAR_056750
VAR_056750 disease not phenotype-associated
VAR_056751 commonName VAR_056751
VAR_056751 disease not phenotype-associated
VAR_056752 commonName VAR_056752
VAR_056752 disease not phenotype-associated
VAR_056753 commonName VAR_056753
VAR_056753 disease not phenotype-associated
VAR_056754 commonName VAR_056754
VAR_056754 disease not phenotype-associated
VAR_056755 commonName VAR_056755
VAR_056755 disease not phenotype-associated
VAR_056756 commonName VAR_056756
VAR_056756 disease not phenotype-associated
VAR_056757 commonName VAR_056757
VAR_056757 disease not phenotype-associated
VAR_056758 commonName VAR_056758
VAR_056758 disease not phenotype-associated
VAR_056759 commonName VAR_056759
VAR_056759 disease not phenotype-associated
VAR_056760 commonName VAR_056760
VAR_056760 disease not phenotype-associated
VAR_056761 commonName VAR_056761
VAR_056761 disease not phenotype-associated
VAR_056762 commonName VAR_056762
VAR_056762 disease not phenotype-associated
VAR_056764 commonName VAR_056764
VAR_056764 disease not phenotype-associated
VAR_056765 commonName VAR_056765
VAR_056765 disease not phenotype-associated
VAR_056766 commonName VAR_056766
VAR_056766 disease not phenotype-associated
VAR_056767 commonName VAR_056767
VAR_056767 disease not phenotype-associated
VAR_056769 commonName VAR_056769
VAR_056769 disease not phenotype-associated
VAR_056770 commonName VAR_056770
VAR_056770 disease not phenotype-associated
VAR_056771 commonName VAR_056771
VAR_056771 disease not phenotype-associated
VAR_056772 commonName VAR_056772
VAR_056772 disease not phenotype-associated
VAR_056773 commonName VAR_056773
VAR_056773 disease not phenotype-associated
VAR_056774 commonName VAR_056774
VAR_056774 disease not phenotype-associated
VAR_056775 commonName VAR_056775
VAR_056775 disease not phenotype-associated
VAR_056776 commonName VAR_056776
VAR_056776 disease not phenotype-associated
VAR_056777 commonName VAR_056777
VAR_056777 disease not phenotype-associated
VAR_056778 commonName VAR_056778
VAR_056778 disease not phenotype-associated
VAR_056779 commonName VAR_056779
VAR_056779 disease not phenotype-associated
VAR_056780 commonName VAR_056780
VAR_056780 disease not phenotype-associated
VAR_056781 commonName VAR_056781
VAR_056781 disease not phenotype-associated
VAR_056782 commonName VAR_056782
VAR_056782 disease not phenotype-associated
VAR_056784 commonName VAR_056784
VAR_056784 disease not phenotype-associated
VAR_056785 commonName VAR_056785
VAR_056785 disease not phenotype-associated
VAR_056786 commonName VAR_056786
VAR_056786 disease not phenotype-associated
VAR_056787 commonName VAR_056787
VAR_056787 disease not phenotype-associated
VAR_056788 commonName VAR_056788
VAR_056788 disease not phenotype-associated
VAR_056789 commonName VAR_056789
VAR_056789 disease not phenotype-associated
VAR_056790 commonName VAR_056790
VAR_056790 disease not phenotype-associated
VAR_056791 commonName VAR_056791
VAR_056791 disease not phenotype-associated
VAR_056792 commonName VAR_056792
VAR_056792 disease not phenotype-associated
VAR_056799 commonName VAR_056799
VAR_056799 disease not phenotype-associated
VAR_056800 commonName VAR_056800
VAR_056800 disease not phenotype-associated
VAR_056801 commonName VAR_056801
VAR_056801 disease not phenotype-associated
VAR_056802 commonName VAR_056802
VAR_056802 disease not phenotype-associated
VAR_056803 commonName VAR_056803
VAR_056803 disease not phenotype-associated
VAR_056804 commonName VAR_056804
VAR_056804 disease not phenotype-associated
VAR_056805 commonName VAR_056805
VAR_056805 disease not phenotype-associated
VAR_056806 commonName VAR_056806
VAR_056806 disease not phenotype-associated
VAR_056808 commonName VAR_056808
VAR_056808 disease not phenotype-associated
VAR_056809 commonName VAR_056809
VAR_056809 disease not phenotype-associated
VAR_056810 commonName VAR_056810
VAR_056810 disease not phenotype-associated
VAR_056811 commonName VAR_056811
VAR_056811 disease not phenotype-associated
VAR_056812 commonName VAR_056812
VAR_056812 disease not phenotype-associated
VAR_056813 commonName VAR_056813
VAR_056813 disease not phenotype-associated
VAR_056814 commonName VAR_056814
VAR_056814 disease not phenotype-associated
VAR_056817 commonName VAR_056817
VAR_056817 disease not phenotype-associated
VAR_056818 commonName VAR_056818
VAR_056818 disease not phenotype-associated
VAR_056819 commonName VAR_056819
VAR_056819 disease not phenotype-associated
VAR_056820 commonName VAR_056820
VAR_056820 disease not phenotype-associated
VAR_056827 commonName VAR_056827
VAR_056827 disease not phenotype-associated
VAR_056828 commonName VAR_056828
VAR_056828 disease not phenotype-associated
VAR_056829 commonName VAR_056829
VAR_056829 disease not phenotype-associated
VAR_056830 commonName VAR_056830
VAR_056830 disease not phenotype-associated
VAR_056831 commonName VAR_056831
VAR_056831 disease not phenotype-associated
VAR_056833 commonName VAR_056833
VAR_056833 disease not phenotype-associated
VAR_056834 commonName VAR_056834
VAR_056834 disease not phenotype-associated
VAR_056835 commonName VAR_056835
VAR_056835 disease not phenotype-associated
VAR_056836 commonName VAR_056836
VAR_056836 disease not phenotype-associated
VAR_056837 commonName VAR_056837
VAR_056837 disease not phenotype-associated
VAR_056838 commonName VAR_056838
VAR_056838 disease not phenotype-associated
VAR_056839 commonName VAR_056839
VAR_056839 disease not phenotype-associated
VAR_056840 commonName VAR_056840
VAR_056840 disease not phenotype-associated
VAR_056841 commonName VAR_056841
VAR_056841 disease not phenotype-associated
VAR_056842 commonName VAR_056842
VAR_056842 disease not phenotype-associated
VAR_056843 commonName VAR_056843
VAR_056843 disease not phenotype-associated
VAR_056844 commonName VAR_056844
VAR_056844 disease not phenotype-associated
VAR_056845 commonName VAR_056845
VAR_056845 disease not phenotype-associated
VAR_056847 commonName VAR_056847
VAR_056847 disease not phenotype-associated
VAR_056849 commonName VAR_056849
VAR_056849 disease not phenotype-associated
VAR_056850 commonName VAR_056850
VAR_056850 disease not phenotype-associated
VAR_056851 commonName VAR_056851
VAR_056851 disease not phenotype-associated
VAR_056852 commonName VAR_056852
VAR_056852 disease not phenotype-associated
VAR_056853 commonName VAR_056853
VAR_056853 disease not phenotype-associated
VAR_056854 commonName VAR_056854
VAR_056854 disease not phenotype-associated
VAR_056855 commonName VAR_056855
VAR_056855 disease not phenotype-associated
VAR_056856 commonName VAR_056856
VAR_056856 disease not phenotype-associated
VAR_056857 commonName VAR_056857
VAR_056857 disease not phenotype-associated
VAR_056858 commonName VAR_056858
VAR_056858 disease not phenotype-associated
VAR_056859 commonName VAR_056859
VAR_056859 disease not phenotype-associated
VAR_056860 commonName VAR_056860
VAR_056860 disease not phenotype-associated
VAR_056861 commonName VAR_056861
VAR_056861 disease not phenotype-associated
VAR_056862 commonName VAR_056862
VAR_056862 disease not phenotype-associated
VAR_056863 commonName VAR_056863
VAR_056863 disease not phenotype-associated
VAR_056864 commonName VAR_056864
VAR_056864 disease not phenotype-associated
VAR_056865 commonName VAR_056865
VAR_056865 disease not phenotype-associated
VAR_056866 commonName VAR_056866
VAR_056866 disease not phenotype-associated
VAR_056867 commonName VAR_056867
VAR_056867 disease not phenotype-associated
VAR_056868 commonName VAR_056868
VAR_056868 disease not phenotype-associated
VAR_056870 commonName VAR_056870
VAR_056870 disease not phenotype-associated
VAR_056871 commonName VAR_056871
VAR_056871 disease not phenotype-associated
VAR_056872 commonName VAR_056872
VAR_056872 disease not phenotype-associated
VAR_056873 commonName VAR_056873
VAR_056873 disease not phenotype-associated
VAR_056874 commonName VAR_056874
VAR_056874 disease not phenotype-associated
VAR_056875 commonName VAR_056875
VAR_056875 disease not phenotype-associated
VAR_056876 commonName VAR_056876
VAR_056876 disease not phenotype-associated
VAR_056877 commonName VAR_056877
VAR_056877 disease not phenotype-associated
VAR_056878 commonName VAR_056878
VAR_056878 disease not phenotype-associated
VAR_056879 commonName VAR_056879
VAR_056879 disease not phenotype-associated
VAR_056880 commonName VAR_056880
VAR_056880 disease not phenotype-associated
VAR_056881 commonName VAR_056881
VAR_056881 disease not phenotype-associated
VAR_056882 commonName VAR_056882
VAR_056882 disease not phenotype-associated
VAR_056883 commonName VAR_056883
VAR_056883 disease not phenotype-associated
VAR_056891 commonName VAR_056891
VAR_056891 disease not phenotype-associated
VAR_056892 commonName VAR_056892
VAR_056892 disease not phenotype-associated
VAR_056893 commonName VAR_056893
VAR_056893 disease not phenotype-associated
VAR_056894 commonName VAR_056894
VAR_056894 disease not phenotype-associated
VAR_056895 commonName VAR_056895
VAR_056895 disease not phenotype-associated
VAR_056896 commonName VAR_056896
VAR_056896 disease not phenotype-associated
VAR_056897 commonName VAR_056897
VAR_056897 disease not phenotype-associated
VAR_056898 commonName VAR_056898
VAR_056898 disease not phenotype-associated
VAR_056899 commonName VAR_056899
VAR_056899 disease not phenotype-associated
VAR_056900 commonName VAR_056900
VAR_056900 disease not phenotype-associated
VAR_056901 commonName VAR_056901
VAR_056901 disease not phenotype-associated
VAR_056902 commonName VAR_056902
VAR_056902 disease not phenotype-associated
VAR_056903 commonName VAR_056903
VAR_056903 disease not phenotype-associated
VAR_056905 commonName VAR_056905
VAR_056905 disease not phenotype-associated
VAR_056906 commonName VAR_056906
VAR_056906 disease not phenotype-associated
VAR_056907 commonName VAR_056907
VAR_056907 disease not phenotype-associated
VAR_056908 commonName VAR_056908
VAR_056908 disease not phenotype-associated
VAR_056909 commonName VAR_056909
VAR_056909 disease not phenotype-associated
VAR_056910 commonName VAR_056910
VAR_056910 disease not phenotype-associated
VAR_056911 commonName VAR_056911
VAR_056911 disease not phenotype-associated
VAR_056912 commonName VAR_056912
VAR_056912 disease not phenotype-associated
VAR_056913 commonName VAR_056913
VAR_056913 disease not phenotype-associated
VAR_056914 commonName VAR_056914
VAR_056914 disease not phenotype-associated
VAR_056915 commonName VAR_056915
VAR_056915 disease not phenotype-associated
VAR_056916 commonName VAR_056916
VAR_056916 disease not phenotype-associated
VAR_056917 commonName VAR_056917
VAR_056917 disease not phenotype-associated
VAR_056918 commonName VAR_056918
VAR_056918 disease not phenotype-associated
VAR_056919 commonName VAR_056919
VAR_056919 disease not phenotype-associated
VAR_056920 commonName VAR_056920
VAR_056920 disease not phenotype-associated
VAR_056922 commonName VAR_056922
VAR_056922 disease not phenotype-associated
VAR_056923 commonName VAR_056923
VAR_056923 disease not phenotype-associated
VAR_056924 commonName VAR_056924
VAR_056924 disease not phenotype-associated
VAR_056925 commonName VAR_056925
VAR_056925 disease not phenotype-associated
VAR_056926 commonName VAR_056926
VAR_056926 disease not phenotype-associated
VAR_056927 commonName VAR_056927
VAR_056927 disease not phenotype-associated
VAR_056930 commonName VAR_056930
VAR_056930 disease not phenotype-associated
VAR_056932 commonName VAR_056932
VAR_056932 disease not phenotype-associated
VAR_056933 commonName VAR_056933
VAR_056933 disease not phenotype-associated
VAR_056935 commonName VAR_056935
VAR_056935 disease not phenotype-associated
VAR_056936 commonName VAR_056936
VAR_056936 disease not phenotype-associated
VAR_056937 commonName VAR_056937
VAR_056937 disease not phenotype-associated
VAR_056938 commonName VAR_056938
VAR_056938 disease not phenotype-associated
VAR_056939 commonName VAR_056939
VAR_056939 disease not phenotype-associated
VAR_056940 commonName VAR_056940
VAR_056940 disease not phenotype-associated
VAR_056941 commonName VAR_056941
VAR_056941 disease not phenotype-associated
VAR_056942 commonName VAR_056942
VAR_056942 disease not phenotype-associated
VAR_056943 commonName VAR_056943
VAR_056943 disease not phenotype-associated
VAR_056944 commonName VAR_056944
VAR_056944 disease not phenotype-associated
VAR_056945 commonName VAR_056945
VAR_056945 disease not phenotype-associated
VAR_056946 commonName VAR_056946
VAR_056946 disease not phenotype-associated
VAR_056947 commonName VAR_056947
VAR_056947 disease not phenotype-associated
VAR_056948 commonName VAR_056948
VAR_056948 disease not phenotype-associated
VAR_056951 commonName VAR_056951
VAR_056951 disease not phenotype-associated
VAR_056952 commonName VAR_056952
VAR_056952 disease not phenotype-associated
VAR_056953 commonName VAR_056953
VAR_056953 disease not phenotype-associated
VAR_056954 commonName VAR_056954
VAR_056954 disease not phenotype-associated
VAR_056955 commonName VAR_056955
VAR_056955 disease not phenotype-associated
VAR_056956 commonName VAR_056956
VAR_056956 disease not phenotype-associated
VAR_056958 commonName VAR_056958
VAR_056958 disease not phenotype-associated
VAR_056961 commonName VAR_056961
VAR_056961 disease not phenotype-associated
VAR_056962 commonName VAR_056962
VAR_056962 disease not phenotype-associated
VAR_056963 commonName VAR_056963
VAR_056963 disease not phenotype-associated
VAR_056964 commonName VAR_056964
VAR_056964 disease not phenotype-associated
VAR_056965 commonName VAR_056965
VAR_056965 disease not phenotype-associated
VAR_056966 commonName VAR_056966
VAR_056966 disease not phenotype-associated
VAR_056967 commonName VAR_056967
VAR_056967 disease not phenotype-associated
VAR_056968 commonName VAR_056968
VAR_056968 disease not phenotype-associated
VAR_056969 commonName VAR_056969
VAR_056969 disease not phenotype-associated
VAR_056970 commonName VAR_056970
VAR_056970 disease not phenotype-associated
VAR_056971 commonName VAR_056971
VAR_056971 disease not phenotype-associated
VAR_056972 commonName VAR_056972
VAR_056972 disease not phenotype-associated
VAR_056973 commonName VAR_056973
VAR_056973 disease not phenotype-associated
VAR_056974 commonName VAR_056974
VAR_056974 disease not phenotype-associated
VAR_056975 commonName VAR_056975
VAR_056975 disease not phenotype-associated
VAR_056976 commonName VAR_056976
VAR_056976 disease not phenotype-associated
VAR_056977 commonName VAR_056977
VAR_056977 disease not phenotype-associated
VAR_056978 commonName VAR_056978
VAR_056978 disease not phenotype-associated
VAR_056983 commonName VAR_056983
VAR_056983 disease not phenotype-associated
VAR_056986 commonName VAR_056986
VAR_056986 disease not phenotype-associated
VAR_056989 commonName VAR_056989
VAR_056989 disease not phenotype-associated
VAR_056990 commonName VAR_056990
VAR_056990 disease not phenotype-associated
VAR_056994 commonName VAR_056994
VAR_056994 disease not phenotype-associated
VAR_056995 commonName VAR_056995
VAR_056995 disease not phenotype-associated
VAR_056998 commonName VAR_056998
VAR_056998 disease not phenotype-associated
VAR_056999 commonName VAR_056999
VAR_056999 disease not phenotype-associated
VAR_057001 commonName VAR_057001
VAR_057001 disease not phenotype-associated
VAR_057002 commonName VAR_057002
VAR_057002 disease not phenotype-associated
VAR_057003 commonName VAR_057003
VAR_057003 disease not phenotype-associated
VAR_057004 commonName VAR_057004
VAR_057004 disease not phenotype-associated
VAR_057005 commonName VAR_057005
VAR_057005 disease not phenotype-associated
VAR_057006 commonName VAR_057006
VAR_057006 disease not phenotype-associated
VAR_057007 commonName VAR_057007
VAR_057007 disease not phenotype-associated
VAR_057008 commonName VAR_057008
VAR_057008 disease not phenotype-associated
VAR_057009 commonName VAR_057009
VAR_057009 disease not phenotype-associated
VAR_057010 commonName VAR_057010
VAR_057010 disease not phenotype-associated
VAR_057011 commonName VAR_057011
VAR_057011 disease not phenotype-associated
VAR_057012 commonName VAR_057012
VAR_057012 disease not phenotype-associated
VAR_057013 commonName VAR_057013
VAR_057013 disease not phenotype-associated
VAR_057014 commonName VAR_057014
VAR_057014 disease not phenotype-associated
VAR_057015 commonName VAR_057015
VAR_057015 disease not phenotype-associated
VAR_057016 commonName VAR_057016
VAR_057016 disease not phenotype-associated
VAR_057017 commonName VAR_057017
VAR_057017 disease not phenotype-associated
VAR_057018 commonName VAR_057018
VAR_057018 disease not phenotype-associated
VAR_057019 commonName VAR_057019
VAR_057019 disease not phenotype-associated
VAR_057020 commonName VAR_057020
VAR_057020 disease not phenotype-associated
VAR_057023 commonName VAR_057023
VAR_057023 disease not phenotype-associated
VAR_057024 commonName VAR_057024
VAR_057024 disease not phenotype-associated
VAR_057025 commonName VAR_057025
VAR_057025 disease not phenotype-associated
VAR_057026 commonName VAR_057026
VAR_057026 disease not phenotype-associated
VAR_057027 commonName VAR_057027
VAR_057027 disease not phenotype-associated
VAR_057028 commonName VAR_057028
VAR_057028 disease not phenotype-associated
VAR_057029 commonName VAR_057029
VAR_057029 disease not phenotype-associated
VAR_057030 commonName VAR_057030
VAR_057030 disease not phenotype-associated
VAR_057031 commonName VAR_057031
VAR_057031 disease not phenotype-associated
VAR_057032 commonName VAR_057032
VAR_057032 disease not phenotype-associated
VAR_057033 commonName VAR_057033
VAR_057033 disease not phenotype-associated
VAR_057038 commonName VAR_057038
VAR_057038 disease not phenotype-associated
VAR_057039 commonName VAR_057039
VAR_057039 disease not phenotype-associated
VAR_057040 commonName VAR_057040
VAR_057040 disease not phenotype-associated
VAR_057041 commonName VAR_057041
VAR_057041 disease not phenotype-associated
VAR_057042 commonName VAR_057042
VAR_057042 disease not phenotype-associated
VAR_057043 commonName VAR_057043
VAR_057043 disease not phenotype-associated
VAR_057044 commonName VAR_057044
VAR_057044 disease not phenotype-associated
VAR_057045 commonName VAR_057045
VAR_057045 disease not phenotype-associated
VAR_057047 commonName VAR_057047
VAR_057047 disease not phenotype-associated
VAR_057048 commonName VAR_057048
VAR_057048 disease not phenotype-associated
VAR_057049 commonName VAR_057049
VAR_057049 disease not phenotype-associated
VAR_057050 commonName VAR_057050
VAR_057050 disease not phenotype-associated
VAR_057051 commonName VAR_057051
VAR_057051 disease not phenotype-associated
VAR_057052 commonName VAR_057052
VAR_057052 disease not phenotype-associated
VAR_057053 commonName VAR_057053
VAR_057053 disease not phenotype-associated
VAR_057054 commonName VAR_057054
VAR_057054 disease not phenotype-associated
VAR_057055 commonName VAR_057055
VAR_057055 disease not phenotype-associated
VAR_057056 commonName VAR_057056
VAR_057056 disease not phenotype-associated
VAR_057057 commonName VAR_057057
VAR_057057 disease not phenotype-associated
VAR_057058 commonName VAR_057058
VAR_057058 disease not phenotype-associated
VAR_057063 commonName VAR_057063
VAR_057063 disease not phenotype-associated
VAR_057064 commonName VAR_057064
VAR_057064 disease not phenotype-associated
VAR_057065 commonName VAR_057065
VAR_057065 disease not phenotype-associated
VAR_057066 commonName VAR_057066
VAR_057066 disease not phenotype-associated
VAR_057067 commonName VAR_057067
VAR_057067 disease not phenotype-associated
VAR_057068 commonName VAR_057068
VAR_057068 disease not phenotype-associated
VAR_057073 commonName VAR_057073
VAR_057073 disease not phenotype-associated
VAR_057074 commonName VAR_057074
VAR_057074 disease not phenotype-associated
VAR_057075 commonName VAR_057075
VAR_057075 disease not phenotype-associated
VAR_057076 commonName VAR_057076
VAR_057076 disease not phenotype-associated
VAR_057077 commonName VAR_057077
VAR_057077 disease not phenotype-associated
VAR_057078 commonName VAR_057078
VAR_057078 disease not phenotype-associated
VAR_057079 commonName VAR_057079
VAR_057079 disease not phenotype-associated
VAR_057080 commonName VAR_057080
VAR_057080 disease not phenotype-associated
VAR_057081 commonName VAR_057081
VAR_057081 disease not phenotype-associated
VAR_057082 commonName VAR_057082
VAR_057082 disease not phenotype-associated
VAR_057087 commonName VAR_057087
VAR_057087 disease not phenotype-associated
VAR_057088 commonName VAR_057088
VAR_057088 disease not phenotype-associated
VAR_057089 commonName VAR_057089
VAR_057089 disease not phenotype-associated
VAR_057090 commonName VAR_057090
VAR_057090 disease not phenotype-associated
VAR_057091 commonName VAR_057091
VAR_057091 disease not phenotype-associated
VAR_057092 commonName VAR_057092
VAR_057092 disease not phenotype-associated
VAR_057093 commonName VAR_057093
VAR_057093 disease not phenotype-associated
VAR_057094 commonName VAR_057094
VAR_057094 disease not phenotype-associated
VAR_057095 commonName VAR_057095
VAR_057095 disease not phenotype-associated
VAR_057096 commonName VAR_057096
VAR_057096 disease not phenotype-associated
VAR_057097 commonName VAR_057097
VAR_057097 disease not phenotype-associated
VAR_057098 commonName VAR_057098
VAR_057098 disease not phenotype-associated
VAR_057099 commonName VAR_057099
VAR_057099 disease not phenotype-associated
VAR_057101 commonName VAR_057101
VAR_057101 disease not phenotype-associated
VAR_057102 commonName VAR_057102
VAR_057102 disease not phenotype-associated
VAR_057103 commonName VAR_057103
VAR_057103 disease not phenotype-associated
VAR_057105 commonName VAR_057105
VAR_057105 disease not phenotype-associated
VAR_057106 commonName VAR_057106
VAR_057106 disease not phenotype-associated
VAR_057107 commonName VAR_057107
VAR_057107 disease not phenotype-associated
VAR_057108 commonName VAR_057108
VAR_057108 disease not phenotype-associated
VAR_057109 commonName VAR_057109
VAR_057109 disease not phenotype-associated
VAR_057110 commonName VAR_057110
VAR_057110 disease not phenotype-associated
VAR_057112 commonName VAR_057112
VAR_057112 disease not phenotype-associated
VAR_057113 commonName VAR_057113
VAR_057113 disease not phenotype-associated
VAR_057114 commonName VAR_057114
VAR_057114 disease not phenotype-associated
VAR_057115 commonName VAR_057115
VAR_057115 disease not phenotype-associated
VAR_057116 commonName VAR_057116
VAR_057116 disease not phenotype-associated
VAR_057117 commonName VAR_057117
VAR_057117 disease not phenotype-associated
VAR_057118 commonName VAR_057118
VAR_057118 disease not phenotype-associated
VAR_057119 commonName VAR_057119
VAR_057119 disease not phenotype-associated
VAR_057120 commonName VAR_057120
VAR_057120 disease not phenotype-associated
VAR_057121 commonName VAR_057121
VAR_057121 disease not phenotype-associated
VAR_057122 commonName VAR_057122
VAR_057122 disease not phenotype-associated
VAR_057123 commonName VAR_057123
VAR_057123 disease not phenotype-associated
VAR_057124 commonName VAR_057124
VAR_057124 disease not phenotype-associated
VAR_057125 commonName VAR_057125
VAR_057125 disease not phenotype-associated
VAR_057126 commonName VAR_057126
VAR_057126 disease not phenotype-associated
VAR_057128 commonName VAR_057128
VAR_057128 disease not phenotype-associated
VAR_057130 commonName VAR_057130
VAR_057130 disease not phenotype-associated
VAR_057131 commonName VAR_057131
VAR_057131 disease not phenotype-associated
VAR_057132 commonName VAR_057132
VAR_057132 disease not phenotype-associated
VAR_057133 commonName VAR_057133
VAR_057133 disease not phenotype-associated
VAR_057134 commonName VAR_057134
VAR_057134 disease not phenotype-associated
VAR_057135 commonName VAR_057135
VAR_057135 disease not phenotype-associated
VAR_057136 commonName VAR_057136
VAR_057136 disease not phenotype-associated
VAR_057137 commonName VAR_057137
VAR_057137 disease not phenotype-associated
VAR_057138 commonName VAR_057138
VAR_057138 disease not phenotype-associated
VAR_057139 commonName VAR_057139
VAR_057139 disease not phenotype-associated
VAR_057140 commonName VAR_057140
VAR_057140 disease not phenotype-associated
VAR_057141 commonName VAR_057141
VAR_057141 disease not phenotype-associated
VAR_057143 commonName VAR_057143
VAR_057143 disease not phenotype-associated
VAR_057144 commonName VAR_057144
VAR_057144 disease not phenotype-associated
VAR_057145 commonName VAR_057145
VAR_057145 disease not phenotype-associated
VAR_057148 commonName VAR_057148
VAR_057148 disease not phenotype-associated
VAR_057149 commonName VAR_057149
VAR_057149 disease not phenotype-associated
VAR_057150 commonName VAR_057150
VAR_057150 disease not phenotype-associated
VAR_057151 commonName VAR_057151
VAR_057151 disease not phenotype-associated
VAR_057152 commonName VAR_057152
VAR_057152 disease not phenotype-associated
VAR_057153 commonName VAR_057153
VAR_057153 disease not phenotype-associated
VAR_057154 commonName VAR_057154
VAR_057154 disease not phenotype-associated
VAR_057155 commonName VAR_057155
VAR_057155 disease not phenotype-associated
VAR_057156 commonName VAR_057156
VAR_057156 disease not phenotype-associated
VAR_057157 commonName VAR_057157
VAR_057157 disease not phenotype-associated
VAR_057158 commonName VAR_057158
VAR_057158 disease not phenotype-associated
VAR_057159 commonName VAR_057159
VAR_057159 disease not phenotype-associated
VAR_057161 commonName VAR_057161
VAR_057161 disease not phenotype-associated
VAR_057162 commonName VAR_057162
VAR_057162 disease not phenotype-associated
VAR_057163 commonName VAR_057163
VAR_057163 disease not phenotype-associated
VAR_057164 commonName VAR_057164
VAR_057164 disease not phenotype-associated
VAR_057165 commonName VAR_057165
VAR_057165 disease not phenotype-associated
VAR_057166 commonName VAR_057166
VAR_057166 disease not phenotype-associated
VAR_057168 commonName VAR_057168
VAR_057168 disease not phenotype-associated
VAR_057169 commonName VAR_057169
VAR_057169 disease not phenotype-associated
VAR_057172 commonName VAR_057172
VAR_057172 disease not phenotype-associated
VAR_057173 commonName VAR_057173
VAR_057173 disease not phenotype-associated
VAR_057175 commonName VAR_057175
VAR_057175 disease not phenotype-associated
VAR_057176 commonName VAR_057176
VAR_057176 disease not phenotype-associated
VAR_057178 commonName VAR_057178
VAR_057178 disease not phenotype-associated
VAR_057179 commonName VAR_057179
VAR_057179 disease not phenotype-associated
VAR_057180 commonName VAR_057180
VAR_057180 disease not phenotype-associated
VAR_057181 commonName VAR_057181
VAR_057181 disease not phenotype-associated
VAR_057182 commonName VAR_057182
VAR_057182 disease not phenotype-associated
VAR_057183 commonName VAR_057183
VAR_057183 disease not phenotype-associated
VAR_057184 commonName VAR_057184
VAR_057184 disease not phenotype-associated
VAR_057185 commonName VAR_057185
VAR_057185 disease not phenotype-associated
VAR_057187 commonName VAR_057187
VAR_057187 disease not phenotype-associated
VAR_057189 commonName VAR_057189
VAR_057189 disease not phenotype-associated
VAR_057190 commonName VAR_057190
VAR_057190 disease not phenotype-associated
VAR_057191 commonName VAR_057191
VAR_057191 disease not phenotype-associated
VAR_057192 commonName VAR_057192
VAR_057192 disease not phenotype-associated
VAR_057193 commonName VAR_057193
VAR_057193 disease not phenotype-associated
VAR_057194 commonName VAR_057194
VAR_057194 disease not phenotype-associated
VAR_057195 commonName VAR_057195
VAR_057195 disease not phenotype-associated
VAR_057196 commonName VAR_057196
VAR_057196 disease not phenotype-associated
VAR_057197 commonName VAR_057197
VAR_057197 disease not phenotype-associated
VAR_057198 commonName VAR_057198
VAR_057198 disease not phenotype-associated
VAR_057199 commonName VAR_057199
VAR_057199 disease not phenotype-associated
VAR_057200 commonName VAR_057200
VAR_057200 disease not phenotype-associated
VAR_057201 commonName VAR_057201
VAR_057201 disease not phenotype-associated
VAR_057202 commonName VAR_057202
VAR_057202 disease not phenotype-associated
VAR_057203 commonName VAR_057203
VAR_057203 disease not phenotype-associated
VAR_057204 commonName VAR_057204
VAR_057204 disease not phenotype-associated
VAR_057205 commonName VAR_057205
VAR_057205 disease not phenotype-associated
VAR_057210 commonName VAR_057210
VAR_057210 disease not phenotype-associated
VAR_057211 commonName VAR_057211
VAR_057211 disease not phenotype-associated
VAR_057212 commonName VAR_057212
VAR_057212 disease not phenotype-associated
VAR_057213 commonName VAR_057213
VAR_057213 disease not phenotype-associated
VAR_057215 commonName VAR_057215
VAR_057215 disease not phenotype-associated
VAR_057218 commonName VAR_057218
VAR_057218 disease not phenotype-associated
VAR_057219 commonName VAR_057219
VAR_057219 disease not phenotype-associated
VAR_057220 commonName VAR_057220
VAR_057220 disease not phenotype-associated
VAR_057224 commonName VAR_057224
VAR_057224 disease not phenotype-associated
VAR_057225 commonName VAR_057225
VAR_057225 disease not phenotype-associated
VAR_057226 commonName VAR_057226
VAR_057226 disease not phenotype-associated
VAR_057227 commonName VAR_057227
VAR_057227 disease not phenotype-associated
VAR_057228 commonName VAR_057228
VAR_057228 disease not phenotype-associated
VAR_057229 commonName VAR_057229
VAR_057229 disease not phenotype-associated
VAR_057230 commonName VAR_057230
VAR_057230 disease not phenotype-associated
VAR_057234 commonName VAR_057234
VAR_057234 disease not phenotype-associated
VAR_057235 commonName VAR_057235
HbVar.684 phenoCommon Hemoglobin variant
VAR_057235 disease not phenotype-associated
VAR_057239 commonName VAR_057239
VAR_057239 disease not phenotype-associated
VAR_057241 commonName VAR_057241
VAR_057241 disease not phenotype-associated
VAR_057242 commonName VAR_057242
VAR_057242 disease not phenotype-associated
VAR_057243 commonName VAR_057243
VAR_057243 disease not phenotype-associated
VAR_057244 commonName VAR_057244
VAR_057244 disease not phenotype-associated
VAR_057245 commonName VAR_057245
VAR_057245 disease not phenotype-associated
VAR_057246 commonName VAR_057246
VAR_057246 disease not phenotype-associated
VAR_057247 commonName VAR_057247
VAR_057247 disease not phenotype-associated
VAR_057248 commonName VAR_057248
VAR_057248 disease not phenotype-associated
VAR_057249 commonName VAR_057249
VAR_057249 disease not phenotype-associated
VAR_057251 commonName VAR_057251
VAR_057251 disease not phenotype-associated
VAR_057252 commonName VAR_057252
VAR_057252 disease not phenotype-associated
VAR_057253 commonName VAR_057253
VAR_057253 disease not phenotype-associated
VAR_057254 commonName VAR_057254
VAR_057254 disease not phenotype-associated
VAR_057255 commonName VAR_057255
VAR_057255 disease not phenotype-associated
VAR_057256 commonName VAR_057256
VAR_057256 disease not phenotype-associated
VAR_057257 commonName VAR_057257
VAR_057257 disease not phenotype-associated
VAR_057258 commonName VAR_057258
VAR_057258 disease not phenotype-associated
VAR_057259 commonName VAR_057259
VAR_057259 disease not phenotype-associated
VAR_057260 commonName VAR_057260
VAR_057260 disease not phenotype-associated
VAR_057261 commonName VAR_057261
VAR_057261 disease not phenotype-associated
VAR_057263 commonName VAR_057263
VAR_057263 disease not phenotype-associated
VAR_057264 commonName VAR_057264
VAR_057264 disease not phenotype-associated
VAR_057265 commonName VAR_057265
VAR_057265 disease not phenotype-associated
VAR_057266 commonName VAR_057266
VAR_057266 disease not phenotype-associated
VAR_057267 commonName VAR_057267
VAR_057267 disease not phenotype-associated
VAR_057269 commonName VAR_057269
VAR_057269 disease not phenotype-associated
VAR_057271 commonName VAR_057271
VAR_057271 disease not phenotype-associated
VAR_057272 commonName VAR_057272
VAR_057272 disease not phenotype-associated
VAR_057273 commonName VAR_057273
VAR_057273 disease not phenotype-associated
VAR_057274 commonName VAR_057274
VAR_057274 disease not phenotype-associated
VAR_057275 commonName VAR_057275
VAR_057275 disease not phenotype-associated
VAR_057276 commonName VAR_057276
VAR_057276 disease not phenotype-associated
VAR_057279 commonName VAR_057279
VAR_057279 disease not phenotype-associated
VAR_057280 commonName VAR_057280
VAR_057280 disease not phenotype-associated
VAR_057281 commonName VAR_057281
VAR_057281 disease not phenotype-associated
VAR_057282 commonName VAR_057282
VAR_057282 disease not phenotype-associated
VAR_057283 commonName VAR_057283
VAR_057283 disease not phenotype-associated
VAR_057284 commonName VAR_057284
VAR_057284 disease not phenotype-associated
VAR_057285 commonName VAR_057285
VAR_057285 disease not phenotype-associated
VAR_057287 commonName VAR_057287
VAR_057287 disease not phenotype-associated
VAR_057288 commonName VAR_057288
VAR_057288 disease not phenotype-associated
VAR_057289 commonName VAR_057289
VAR_057289 disease not phenotype-associated
VAR_057290 commonName VAR_057290
VAR_057290 disease not phenotype-associated
VAR_057291 commonName VAR_057291
VAR_057291 disease not phenotype-associated
VAR_057292 commonName VAR_057292
VAR_057292 disease not phenotype-associated
VAR_057293 commonName VAR_057293
VAR_057293 disease not phenotype-associated
VAR_057294 commonName VAR_057294
VAR_057294 disease not phenotype-associated
VAR_057295 commonName VAR_057295
VAR_057295 disease not phenotype-associated
VAR_057296 commonName VAR_057296
VAR_057296 disease not phenotype-associated
VAR_057297 commonName VAR_057297
VAR_057297 disease not phenotype-associated
VAR_057298 commonName VAR_057298
VAR_057298 disease not phenotype-associated
VAR_057299 commonName VAR_057299
VAR_057299 disease not phenotype-associated
VAR_057300 commonName VAR_057300
VAR_057300 disease not phenotype-associated
VAR_057301 commonName VAR_057301
VAR_057301 disease not phenotype-associated
VAR_057302 commonName VAR_057302
VAR_057302 disease not phenotype-associated
VAR_057303 commonName VAR_057303
VAR_057303 disease not phenotype-associated
VAR_057304 commonName VAR_057304
VAR_057304 disease not phenotype-associated
VAR_057307 commonName VAR_057307
VAR_057307 disease not phenotype-associated
VAR_057308 commonName VAR_057308
VAR_057308 disease not phenotype-associated
VAR_057309 commonName VAR_057309
VAR_057309 disease not phenotype-associated
VAR_057311 commonName VAR_057311
VAR_057311 disease not phenotype-associated
VAR_057312 commonName VAR_057312
VAR_057312 disease not phenotype-associated
VAR_057313 commonName VAR_057313
VAR_057313 disease not phenotype-associated
VAR_057314 commonName VAR_057314
VAR_057314 disease not phenotype-associated
VAR_057315 commonName VAR_057315
VAR_057315 disease not phenotype-associated
VAR_057320 commonName VAR_057320
VAR_057320 disease not phenotype-associated
VAR_057321 commonName VAR_057321
VAR_057321 disease not phenotype-associated
VAR_057323 commonName VAR_057323
VAR_057323 disease not phenotype-associated
VAR_057326 commonName VAR_057326
VAR_057326 disease not phenotype-associated
VAR_057327 commonName VAR_057327
VAR_057327 disease not phenotype-associated
VAR_057328 commonName VAR_057328
VAR_057328 disease not phenotype-associated
VAR_057329 commonName VAR_057329
VAR_057329 disease not phenotype-associated
VAR_057330 commonName VAR_057330
VAR_057330 disease not phenotype-associated
VAR_057334 commonName VAR_057334
VAR_057334 disease not phenotype-associated
VAR_057335 commonName VAR_057335
VAR_057335 disease not phenotype-associated
VAR_057336 commonName VAR_057336
VAR_057336 disease not phenotype-associated
VAR_057337 commonName VAR_057337
VAR_057337 disease not phenotype-associated
VAR_057338 commonName VAR_057338
VAR_057338 disease not phenotype-associated
VAR_057339 commonName VAR_057339
VAR_057339 disease not phenotype-associated
VAR_057340 commonName VAR_057340
VAR_057340 disease not phenotype-associated
VAR_057341 commonName VAR_057341
VAR_057341 disease not phenotype-associated
VAR_057342 commonName VAR_057342
VAR_057342 disease not phenotype-associated
VAR_057343 commonName VAR_057343
VAR_057343 disease not phenotype-associated
VAR_057344 commonName VAR_057344
VAR_057344 disease not phenotype-associated
VAR_057345 commonName VAR_057345
VAR_057345 disease not phenotype-associated
VAR_057346 commonName VAR_057346
VAR_057346 disease not phenotype-associated
VAR_057347 commonName VAR_057347
VAR_057347 disease not phenotype-associated
VAR_057349 commonName VAR_057349
VAR_057349 disease not phenotype-associated
VAR_057350 commonName VAR_057350
VAR_057350 disease not phenotype-associated
VAR_057351 commonName VAR_057351
VAR_057351 disease not phenotype-associated
VAR_057352 commonName VAR_057352
VAR_057352 disease not phenotype-associated
VAR_057355 commonName VAR_057355
VAR_057355 disease not phenotype-associated
VAR_057356 commonName VAR_057356
VAR_057356 disease not phenotype-associated
VAR_057357 commonName VAR_057357
VAR_057357 disease not phenotype-associated
VAR_057359 commonName VAR_057359
VAR_057359 disease not phenotype-associated
VAR_057360 commonName VAR_057360
VAR_057360 disease not phenotype-associated
VAR_057361 commonName VAR_057361
VAR_057361 disease not phenotype-associated
VAR_057362 commonName VAR_057362
VAR_057362 disease not phenotype-associated
VAR_057363 commonName VAR_057363
VAR_057363 disease not phenotype-associated
VAR_057364 commonName VAR_057364
VAR_057364 disease not phenotype-associated
VAR_057365 commonName VAR_057365
VAR_057365 disease not phenotype-associated
VAR_057366 commonName VAR_057366
VAR_057366 disease not phenotype-associated
VAR_057367 commonName VAR_057367
VAR_057367 disease not phenotype-associated
VAR_057369 commonName VAR_057369
VAR_057369 disease not phenotype-associated
VAR_057370 commonName VAR_057370
VAR_057370 disease not phenotype-associated
VAR_057371 commonName VAR_057371
VAR_057371 disease not phenotype-associated
VAR_057372 commonName VAR_057372
VAR_057372 disease not phenotype-associated
VAR_057373 commonName VAR_057373
VAR_057373 disease not phenotype-associated
VAR_057374 commonName VAR_057374
VAR_057374 disease not phenotype-associated
VAR_057375 commonName VAR_057375
VAR_057375 disease not phenotype-associated
VAR_057376 commonName VAR_057376
VAR_057376 disease not phenotype-associated
VAR_057377 commonName VAR_057377
VAR_057377 disease not phenotype-associated
VAR_057378 commonName VAR_057378
VAR_057378 disease not phenotype-associated
VAR_057379 commonName VAR_057379
VAR_057379 disease not phenotype-associated
VAR_057380 commonName VAR_057380
VAR_057380 disease not phenotype-associated
VAR_057381 commonName VAR_057381
VAR_057381 disease not phenotype-associated
VAR_057382 commonName VAR_057382
VAR_057382 disease not phenotype-associated
VAR_057383 commonName VAR_057383
VAR_057383 disease not phenotype-associated
VAR_057384 commonName VAR_057384
VAR_057384 disease not phenotype-associated
VAR_057385 commonName VAR_057385
VAR_057385 disease not phenotype-associated
VAR_057386 commonName VAR_057386
VAR_057386 disease not phenotype-associated
VAR_057387 commonName VAR_057387
VAR_057387 disease not phenotype-associated
VAR_057388 commonName VAR_057388
VAR_057388 disease not phenotype-associated
VAR_057389 commonName VAR_057389
VAR_057389 disease not phenotype-associated
VAR_057390 commonName VAR_057390
VAR_057390 disease not phenotype-associated
VAR_057391 commonName VAR_057391
VAR_057391 disease not phenotype-associated
VAR_057392 commonName VAR_057392
VAR_057392 disease not phenotype-associated
VAR_057393 commonName VAR_057393
VAR_057393 disease not phenotype-associated
VAR_057394 commonName VAR_057394
VAR_057394 disease not phenotype-associated
VAR_057395 commonName VAR_057395
VAR_057395 disease not phenotype-associated
VAR_057396 commonName VAR_057396
VAR_057396 disease not phenotype-associated
VAR_057397 commonName VAR_057397
VAR_057397 disease not phenotype-associated
VAR_057398 commonName VAR_057398
VAR_057398 disease not phenotype-associated
VAR_057399 commonName VAR_057399
VAR_057399 disease not phenotype-associated
VAR_057400 commonName VAR_057400
VAR_057400 disease not phenotype-associated
VAR_057401 commonName VAR_057401
VAR_057401 disease not phenotype-associated
VAR_057402 commonName VAR_057402
VAR_057402 disease not phenotype-associated
VAR_057403 commonName VAR_057403
VAR_057403 disease not phenotype-associated
VAR_057404 commonName VAR_057404
VAR_057404 disease not phenotype-associated
VAR_057405 commonName VAR_057405
VAR_057405 disease not phenotype-associated
VAR_057406 commonName VAR_057406
VAR_057406 disease not phenotype-associated
VAR_057407 commonName VAR_057407
VAR_057407 disease not phenotype-associated
VAR_057408 commonName VAR_057408
VAR_057408 disease not phenotype-associated
VAR_057409 commonName VAR_057409
VAR_057409 disease not phenotype-associated
VAR_057410 commonName VAR_057410
VAR_057410 disease not phenotype-associated
VAR_057411 commonName VAR_057411
VAR_057411 disease not phenotype-associated
VAR_057412 commonName VAR_057412
VAR_057412 disease not phenotype-associated
VAR_057413 commonName VAR_057413
VAR_057413 disease not phenotype-associated
VAR_057414 commonName VAR_057414
VAR_057414 disease not phenotype-associated
VAR_057415 commonName VAR_057415
VAR_057415 disease not phenotype-associated
VAR_057419 commonName VAR_057419
VAR_057419 disease not phenotype-associated
VAR_057420 commonName VAR_057420
VAR_057420 disease not phenotype-associated
VAR_057421 commonName VAR_057421
VAR_057421 disease not phenotype-associated
VAR_057422 commonName VAR_057422
VAR_057422 disease not phenotype-associated
VAR_057423 commonName VAR_057423
VAR_057423 disease not phenotype-associated
VAR_057424 commonName VAR_057424
VAR_057424 disease not phenotype-associated
VAR_057425 commonName VAR_057425
VAR_057425 disease not phenotype-associated
VAR_057426 commonName VAR_057426
VAR_057426 disease not phenotype-associated
VAR_057427 commonName VAR_057427
VAR_057427 disease not phenotype-associated
VAR_057428 commonName VAR_057428
VAR_057428 disease not phenotype-associated
VAR_057430 commonName VAR_057430
VAR_057430 disease not phenotype-associated
VAR_057431 commonName VAR_057431
VAR_057431 disease not phenotype-associated
VAR_057432 commonName VAR_057432
VAR_057432 disease not phenotype-associated
VAR_057433 commonName VAR_057433
VAR_057433 disease not phenotype-associated
VAR_057434 commonName VAR_057434
VAR_057434 disease not phenotype-associated
VAR_057435 commonName VAR_057435
VAR_057435 disease not phenotype-associated
VAR_057436 commonName VAR_057436
VAR_057436 disease not phenotype-associated
VAR_057437 commonName VAR_057437
VAR_057437 disease not phenotype-associated
VAR_057438 commonName VAR_057438
VAR_057438 disease not phenotype-associated
VAR_057439 commonName VAR_057439
VAR_057439 disease not phenotype-associated
VAR_057440 commonName VAR_057440
VAR_057440 disease not phenotype-associated
VAR_057441 commonName VAR_057441
VAR_057441 disease not phenotype-associated
VAR_057442 commonName VAR_057442
VAR_057442 disease not phenotype-associated
VAR_057443 commonName VAR_057443
VAR_057443 disease not phenotype-associated
VAR_057444 commonName VAR_057444
VAR_057444 disease not phenotype-associated
VAR_057445 commonName VAR_057445
VAR_057445 disease not phenotype-associated
VAR_057446 commonName VAR_057446
VAR_057446 disease not phenotype-associated
VAR_057447 commonName VAR_057447
VAR_057447 disease not phenotype-associated
VAR_057453 commonName VAR_057453
VAR_057453 disease not phenotype-associated
VAR_057454 commonName VAR_057454
VAR_057454 disease not phenotype-associated
VAR_057455 commonName VAR_057455
VAR_057455 disease not phenotype-associated
VAR_057456 commonName VAR_057456
VAR_057456 disease not phenotype-associated
VAR_057458 commonName VAR_057458
VAR_057458 disease not phenotype-associated
VAR_057459 commonName VAR_057459
VAR_057459 disease not phenotype-associated
VAR_057461 commonName VAR_057461
VAR_057461 disease not phenotype-associated
VAR_057462 commonName VAR_057462
VAR_057462 disease not phenotype-associated
VAR_057463 commonName VAR_057463
VAR_057463 disease not phenotype-associated
VAR_057464 commonName VAR_057464
VAR_057464 disease not phenotype-associated
VAR_057467 commonName VAR_057467
VAR_057467 disease not phenotype-associated
VAR_057468 commonName VAR_057468
VAR_057468 disease not phenotype-associated
VAR_057469 commonName VAR_057469
VAR_057469 disease not phenotype-associated
VAR_057470 commonName VAR_057470
VAR_057470 disease not phenotype-associated
VAR_057472 commonName VAR_057472
VAR_057472 disease not phenotype-associated
VAR_057473 commonName VAR_057473
VAR_057473 disease not phenotype-associated
VAR_057474 commonName VAR_057474
VAR_057474 disease not phenotype-associated
VAR_057475 commonName VAR_057475
VAR_057475 disease not phenotype-associated
VAR_057476 commonName VAR_057476
VAR_057476 disease not phenotype-associated
VAR_057477 commonName VAR_057477
VAR_057477 disease not phenotype-associated
VAR_057480 commonName VAR_057480
VAR_057480 disease not phenotype-associated
VAR_057481 commonName VAR_057481
VAR_057481 disease not phenotype-associated
VAR_057482 commonName VAR_057482
VAR_057482 disease not phenotype-associated
VAR_057483 commonName VAR_057483
VAR_057483 disease not phenotype-associated
VAR_057484 commonName VAR_057484
VAR_057484 disease not phenotype-associated
VAR_057485 commonName VAR_057485
VAR_057485 disease not phenotype-associated
VAR_057486 commonName VAR_057486
VAR_057486 disease not phenotype-associated
VAR_057487 commonName VAR_057487
VAR_057487 disease not phenotype-associated
VAR_057488 commonName VAR_057488
VAR_057488 disease not phenotype-associated
VAR_057489 commonName VAR_057489
VAR_057489 disease not phenotype-associated
VAR_057490 commonName VAR_057490
VAR_057490 disease not phenotype-associated
VAR_057491 commonName VAR_057491
VAR_057491 disease not phenotype-associated
VAR_057492 commonName VAR_057492
VAR_057492 disease not phenotype-associated
VAR_057494 commonName VAR_057494
VAR_057494 disease not phenotype-associated
VAR_057495 commonName VAR_057495
VAR_057495 disease not phenotype-associated
VAR_057496 commonName VAR_057496
VAR_057496 disease not phenotype-associated
VAR_057497 commonName VAR_057497
VAR_057497 disease not phenotype-associated
VAR_057498 commonName VAR_057498
VAR_057498 disease not phenotype-associated
VAR_057499 commonName VAR_057499
VAR_057499 disease not phenotype-associated
VAR_057500 commonName VAR_057500
VAR_057500 disease not phenotype-associated
VAR_057501 commonName VAR_057501
VAR_057501 disease not phenotype-associated
VAR_057503 commonName VAR_057503
VAR_057503 disease not phenotype-associated
VAR_057504 commonName VAR_057504
VAR_057504 disease not phenotype-associated
VAR_057505 commonName VAR_057505
VAR_057505 disease not phenotype-associated
VAR_057506 commonName VAR_057506
VAR_057506 disease not phenotype-associated
VAR_057507 commonName VAR_057507
VAR_057507 disease not phenotype-associated
VAR_057508 commonName VAR_057508
VAR_057508 disease not phenotype-associated
VAR_057509 commonName VAR_057509
VAR_057509 disease not phenotype-associated
VAR_057510 commonName VAR_057510
VAR_057510 disease not phenotype-associated
VAR_057511 commonName VAR_057511
VAR_057511 disease not phenotype-associated
VAR_057512 commonName VAR_057512
VAR_057512 disease not phenotype-associated
VAR_057513 commonName VAR_057513
VAR_057513 disease not phenotype-associated
VAR_057514 commonName VAR_057514
VAR_057514 disease not phenotype-associated
VAR_057515 commonName VAR_057515
VAR_057515 disease not phenotype-associated
VAR_057516 commonName VAR_057516
VAR_057516 disease not phenotype-associated
VAR_057517 commonName VAR_057517
VAR_057517 disease not phenotype-associated
VAR_057518 commonName VAR_057518
VAR_057518 disease not phenotype-associated
VAR_057519 commonName VAR_057519
VAR_057519 disease not phenotype-associated
VAR_057520 commonName VAR_057520
VAR_057520 disease not phenotype-associated
VAR_057521 commonName VAR_057521
VAR_057521 disease not phenotype-associated
VAR_057522 commonName VAR_057522
VAR_057522 disease not phenotype-associated
VAR_057523 commonName VAR_057523
VAR_057523 disease not phenotype-associated
VAR_057525 commonName VAR_057525
VAR_057525 disease not phenotype-associated
VAR_057526 commonName VAR_057526
VAR_057526 disease not phenotype-associated
VAR_057527 commonName VAR_057527
VAR_057527 disease not phenotype-associated
VAR_057528 commonName VAR_057528
VAR_057528 disease not phenotype-associated
VAR_057529 commonName VAR_057529
VAR_057529 disease not phenotype-associated
VAR_057531 commonName VAR_057531
VAR_057531 disease not phenotype-associated
VAR_057532 commonName VAR_057532
VAR_057532 disease not phenotype-associated
VAR_057533 commonName VAR_057533
VAR_057533 disease not phenotype-associated
VAR_057534 commonName VAR_057534
VAR_057534 disease not phenotype-associated
VAR_057535 commonName VAR_057535
VAR_057535 disease not phenotype-associated
VAR_057536 commonName VAR_057536
VAR_057536 disease not phenotype-associated
VAR_057537 commonName VAR_057537
VAR_057537 disease not phenotype-associated
VAR_057538 commonName VAR_057538
VAR_057538 disease not phenotype-associated
VAR_057539 commonName VAR_057539
VAR_057539 disease not phenotype-associated
VAR_057541 commonName VAR_057541
VAR_057541 disease not phenotype-associated
VAR_057542 commonName VAR_057542
VAR_057542 disease not phenotype-associated
VAR_057543 commonName VAR_057543
VAR_057543 disease not phenotype-associated
VAR_057544 commonName VAR_057544
VAR_057544 disease not phenotype-associated
VAR_057545 commonName VAR_057545
VAR_057545 disease not phenotype-associated
VAR_057546 commonName VAR_057546
VAR_057546 disease not phenotype-associated
VAR_057547 commonName VAR_057547
VAR_057547 disease not phenotype-associated
VAR_057548 commonName VAR_057548
VAR_057548 disease not phenotype-associated
VAR_057549 commonName VAR_057549
VAR_057549 disease not phenotype-associated
VAR_057550 commonName VAR_057550
VAR_057550 disease not phenotype-associated
VAR_057551 commonName VAR_057551
VAR_057551 disease not phenotype-associated
VAR_057552 commonName VAR_057552
VAR_057552 disease not phenotype-associated
VAR_057553 commonName VAR_057553
VAR_057553 disease not phenotype-associated
VAR_057554 commonName VAR_057554
VAR_057554 disease not phenotype-associated
VAR_057555 commonName VAR_057555
VAR_057555 disease not phenotype-associated
VAR_057556 commonName VAR_057556
VAR_057556 disease not phenotype-associated
VAR_057557 commonName VAR_057557
VAR_057557 disease not phenotype-associated
VAR_057558 commonName VAR_057558
VAR_057558 disease not phenotype-associated
VAR_057559 commonName VAR_057559
VAR_057559 disease not phenotype-associated
VAR_057560 commonName VAR_057560
VAR_057560 disease not phenotype-associated
VAR_057561 commonName VAR_057561
VAR_057561 disease not phenotype-associated
VAR_057562 commonName VAR_057562
VAR_057562 disease not phenotype-associated
VAR_057563 commonName VAR_057563
VAR_057563 disease not phenotype-associated
VAR_057564 commonName VAR_057564
VAR_057564 disease not phenotype-associated
VAR_057565 commonName VAR_057565
VAR_057565 disease not phenotype-associated
VAR_057566 commonName VAR_057566
VAR_057566 disease not phenotype-associated
VAR_057567 commonName VAR_057567
VAR_057567 disease not phenotype-associated
VAR_057568 commonName VAR_057568
VAR_057568 disease not phenotype-associated
VAR_057576 commonName VAR_057576
VAR_057576 disease not phenotype-associated
VAR_057577 commonName VAR_057577
VAR_057577 disease not phenotype-associated
VAR_057578 commonName VAR_057578
VAR_057578 disease not phenotype-associated
VAR_057579 commonName VAR_057579
VAR_057579 disease not phenotype-associated
VAR_057580 commonName VAR_057580
VAR_057580 disease not phenotype-associated
VAR_057581 commonName VAR_057581
VAR_057581 disease not phenotype-associated
VAR_057583 commonName VAR_057583
VAR_057583 disease not phenotype-associated
VAR_057584 commonName VAR_057584
VAR_057584 disease not phenotype-associated
VAR_057585 commonName VAR_057585
VAR_057585 disease not phenotype-associated
VAR_057586 commonName VAR_057586
VAR_057586 disease not phenotype-associated
VAR_057587 commonName VAR_057587
VAR_057587 disease not phenotype-associated
VAR_057588 commonName VAR_057588
VAR_057588 disease not phenotype-associated
VAR_057589 commonName VAR_057589
VAR_057589 disease not phenotype-associated
VAR_057590 commonName VAR_057590
VAR_057590 disease not phenotype-associated
VAR_057591 commonName VAR_057591
VAR_057591 disease not phenotype-associated
VAR_057592 commonName VAR_057592
VAR_057592 disease not phenotype-associated
VAR_057593 commonName VAR_057593
VAR_057593 disease not phenotype-associated
VAR_057594 commonName VAR_057594
VAR_057594 disease not phenotype-associated
VAR_057595 commonName VAR_057595
VAR_057595 disease not phenotype-associated
VAR_057596 commonName VAR_057596
VAR_057596 disease not phenotype-associated
VAR_057597 commonName VAR_057597
VAR_057597 disease not phenotype-associated
VAR_057598 commonName VAR_057598
VAR_057598 disease not phenotype-associated
VAR_057600 commonName VAR_057600
VAR_057600 disease not phenotype-associated
VAR_057601 commonName VAR_057601
VAR_057601 disease not phenotype-associated
VAR_057602 commonName VAR_057602
VAR_057602 disease not phenotype-associated
VAR_057603 commonName VAR_057603
VAR_057603 disease not phenotype-associated
VAR_057604 commonName VAR_057604
VAR_057604 disease not phenotype-associated
VAR_057605 commonName VAR_057605
VAR_057605 disease not phenotype-associated
VAR_057606 commonName VAR_057606
VAR_057606 disease not phenotype-associated
VAR_057607 commonName VAR_057607
VAR_057607 disease not phenotype-associated
VAR_057608 commonName VAR_057608
VAR_057608 disease not phenotype-associated
VAR_057609 commonName VAR_057609
VAR_057609 disease not phenotype-associated
VAR_057610 commonName VAR_057610
VAR_057610 disease not phenotype-associated
VAR_057611 commonName VAR_057611
VAR_057611 disease not phenotype-associated
VAR_057612 commonName VAR_057612
VAR_057612 disease not phenotype-associated
VAR_057613 commonName VAR_057613
VAR_057613 disease not phenotype-associated
VAR_057614 commonName VAR_057614
VAR_057614 disease not phenotype-associated
VAR_057615 commonName VAR_057615
VAR_057615 disease not phenotype-associated
VAR_057616 commonName VAR_057616
VAR_057616 disease not phenotype-associated
VAR_057617 commonName VAR_057617
VAR_057617 disease not phenotype-associated
VAR_057618 commonName VAR_057618
VAR_057618 disease not phenotype-associated
VAR_057619 commonName VAR_057619
VAR_057619 disease not phenotype-associated
VAR_057620 commonName VAR_057620
VAR_057620 disease not phenotype-associated
VAR_057621 commonName VAR_057621
VAR_057621 disease not phenotype-associated
VAR_057622 commonName VAR_057622
VAR_057622 disease not phenotype-associated
VAR_057623 commonName VAR_057623
VAR_057623 disease not phenotype-associated
VAR_057624 commonName VAR_057624
VAR_057624 disease not phenotype-associated
VAR_057625 commonName VAR_057625
VAR_057625 disease not phenotype-associated
VAR_057627 commonName VAR_057627
VAR_057627 disease not phenotype-associated
VAR_057628 commonName VAR_057628
VAR_057628 disease not phenotype-associated
VAR_057629 commonName VAR_057629
VAR_057629 disease not phenotype-associated
VAR_057630 commonName VAR_057630
VAR_057630 disease not phenotype-associated
VAR_057631 commonName VAR_057631
VAR_057631 disease not phenotype-associated
VAR_057633 commonName VAR_057633
VAR_057633 disease not phenotype-associated
VAR_057634 commonName VAR_057634
VAR_057634 disease not phenotype-associated
VAR_057635 commonName VAR_057635
VAR_057635 disease not phenotype-associated
VAR_057636 commonName VAR_057636
VAR_057636 disease not phenotype-associated
VAR_057638 commonName VAR_057638
VAR_057638 disease not phenotype-associated
VAR_057639 commonName VAR_057639
VAR_057639 disease not phenotype-associated
VAR_057640 commonName VAR_057640
VAR_057640 disease not phenotype-associated
VAR_057641 commonName VAR_057641
VAR_057641 disease not phenotype-associated
VAR_057642 commonName VAR_057642
VAR_057642 disease not phenotype-associated
VAR_057643 commonName VAR_057643
VAR_057643 disease not phenotype-associated
VAR_057644 commonName VAR_057644
VAR_057644 disease not phenotype-associated
VAR_057645 commonName VAR_057645
VAR_057645 disease not phenotype-associated
VAR_057646 commonName VAR_057646
VAR_057646 disease not phenotype-associated
VAR_057647 commonName VAR_057647
VAR_057647 disease not phenotype-associated
VAR_057649 commonName VAR_057649
VAR_057649 disease not phenotype-associated
VAR_057650 commonName VAR_057650
VAR_057650 disease not phenotype-associated
VAR_057651 commonName VAR_057651
VAR_057651 disease not phenotype-associated
VAR_057652 commonName VAR_057652
VAR_057652 disease not phenotype-associated
VAR_057653 commonName VAR_057653
VAR_057653 disease not phenotype-associated
VAR_057654 commonName VAR_057654
VAR_057654 disease not phenotype-associated
VAR_057656 commonName VAR_057656
VAR_057656 disease not phenotype-associated
VAR_057657 commonName VAR_057657
VAR_057657 disease not phenotype-associated
VAR_057660 commonName VAR_057660
VAR_057660 disease not phenotype-associated
VAR_057661 commonName VAR_057661
VAR_057661 disease not phenotype-associated
VAR_057662 commonName VAR_057662
VAR_057662 disease not phenotype-associated
VAR_057663 commonName VAR_057663
VAR_057663 disease not phenotype-associated
VAR_057664 commonName VAR_057664
VAR_057664 disease not phenotype-associated
VAR_057665 commonName VAR_057665
VAR_057665 disease not phenotype-associated
VAR_057666 commonName VAR_057666
VAR_057666 disease not phenotype-associated
VAR_057667 commonName VAR_057667
VAR_057667 disease not phenotype-associated
VAR_057668 commonName VAR_057668
VAR_057668 disease not phenotype-associated
VAR_057669 commonName VAR_057669
VAR_057669 disease not phenotype-associated
VAR_057670 commonName VAR_057670
VAR_057670 disease not phenotype-associated
VAR_057671 commonName VAR_057671
VAR_057671 disease not phenotype-associated
VAR_057672 commonName VAR_057672
VAR_057672 disease not phenotype-associated
VAR_057673 commonName VAR_057673
VAR_057673 disease not phenotype-associated
VAR_057674 commonName VAR_057674
VAR_057674 disease not phenotype-associated
VAR_057675 commonName VAR_057675
VAR_057675 disease not phenotype-associated
VAR_057676 commonName VAR_057676
VAR_057676 disease not phenotype-associated
VAR_057677 commonName VAR_057677
VAR_057677 disease not phenotype-associated
VAR_057678 commonName VAR_057678
VAR_057678 disease not phenotype-associated
VAR_057679 commonName VAR_057679
VAR_057679 disease not phenotype-associated
VAR_057680 commonName VAR_057680
VAR_057680 disease not phenotype-associated
VAR_057698 commonName VAR_057698
VAR_057698 disease not phenotype-associated
VAR_057700 commonName VAR_057700
VAR_057700 disease not phenotype-associated
VAR_057701 commonName VAR_057701
VAR_057701 disease not phenotype-associated
VAR_057702 commonName VAR_057702
VAR_057702 disease not phenotype-associated
VAR_057703 commonName VAR_057703
VAR_057703 disease not phenotype-associated
VAR_057704 commonName VAR_057704
VAR_057704 disease not phenotype-associated
VAR_057705 commonName VAR_057705
VAR_057705 disease not phenotype-associated
VAR_057706 commonName VAR_057706
VAR_057706 disease not phenotype-associated
VAR_057707 commonName VAR_057707
VAR_057707 disease not phenotype-associated
VAR_057708 commonName VAR_057708
VAR_057708 disease not phenotype-associated
VAR_057709 commonName VAR_057709
VAR_057709 disease not phenotype-associated
VAR_057710 commonName VAR_057710
VAR_057710 disease not phenotype-associated
VAR_057711 commonName VAR_057711
VAR_057711 disease not phenotype-associated
VAR_057712 commonName VAR_057712
VAR_057712 disease not phenotype-associated
VAR_057713 commonName VAR_057713
VAR_057713 disease not phenotype-associated
VAR_057714 commonName VAR_057714
VAR_057714 disease not phenotype-associated
VAR_057715 commonName VAR_057715
VAR_057715 disease not phenotype-associated
VAR_057718 commonName VAR_057718
VAR_057718 disease not phenotype-associated
VAR_057719 commonName VAR_057719
VAR_057719 disease not phenotype-associated
VAR_057720 commonName VAR_057720
VAR_057720 disease not phenotype-associated
VAR_057721 commonName VAR_057721
VAR_057721 disease not phenotype-associated
VAR_057722 commonName VAR_057722
VAR_057722 disease not phenotype-associated
VAR_057724 commonName VAR_057724
VAR_057724 disease not phenotype-associated
VAR_057725 commonName VAR_057725
VAR_057725 disease not phenotype-associated
VAR_057727 commonName VAR_057727
VAR_057727 disease not phenotype-associated
VAR_057729 commonName VAR_057729
VAR_057729 disease not phenotype-associated
VAR_057730 commonName VAR_057730
VAR_057730 disease not phenotype-associated
VAR_057731 commonName VAR_057731
VAR_057731 disease not phenotype-associated
VAR_057732 commonName VAR_057732
VAR_057732 disease not phenotype-associated
VAR_057733 commonName VAR_057733
VAR_057733 disease not phenotype-associated
VAR_057734 commonName VAR_057734
VAR_057734 disease not phenotype-associated
VAR_057735 commonName VAR_057735
VAR_057735 disease not phenotype-associated
VAR_057738 commonName VAR_057738
VAR_057738 disease not phenotype-associated
VAR_057739 commonName VAR_057739
VAR_057739 disease not phenotype-associated
VAR_057740 commonName VAR_057740
VAR_057740 disease not phenotype-associated
VAR_057741 commonName VAR_057741
VAR_057741 disease not phenotype-associated
VAR_057743 commonName VAR_057743
VAR_057743 disease not phenotype-associated
VAR_057744 commonName VAR_057744
VAR_057744 disease not phenotype-associated
VAR_057745 commonName VAR_057745
VAR_057745 disease not phenotype-associated
VAR_057746 commonName VAR_057746
VAR_057746 disease not phenotype-associated
VAR_057747 commonName VAR_057747
VAR_057747 disease not phenotype-associated
VAR_057748 commonName VAR_057748
VAR_057748 disease not phenotype-associated
VAR_057749 commonName VAR_057749
VAR_057749 disease not phenotype-associated
VAR_057750 commonName VAR_057750
VAR_057750 disease not phenotype-associated
VAR_057751 commonName VAR_057751
VAR_057751 disease not phenotype-associated
VAR_057752 commonName VAR_057752
VAR_057752 disease not phenotype-associated
VAR_057753 commonName VAR_057753
VAR_057753 disease not phenotype-associated
VAR_057756 commonName VAR_057756
VAR_057756 disease not phenotype-associated
VAR_057757 commonName VAR_057757
VAR_057757 disease not phenotype-associated
VAR_057758 commonName VAR_057758
VAR_057758 disease not phenotype-associated
VAR_057759 commonName VAR_057759
VAR_057759 disease not phenotype-associated
VAR_057765 commonName VAR_057765
VAR_057765 disease not phenotype-associated
VAR_057766 commonName VAR_057766
VAR_057766 disease not phenotype-associated
VAR_057767 commonName VAR_057767
VAR_057767 disease not phenotype-associated
VAR_057769 commonName VAR_057769
VAR_057769 disease not phenotype-associated
VAR_057770 commonName VAR_057770
VAR_057770 disease not phenotype-associated
VAR_057771 commonName VAR_057771
VAR_057771 disease not phenotype-associated
VAR_057772 commonName VAR_057772
VAR_057772 disease not phenotype-associated
VAR_057775 commonName VAR_057775
VAR_057775 disease not phenotype-associated
VAR_057776 commonName VAR_057776
VAR_057776 disease not phenotype-associated
VAR_057777 commonName VAR_057777
VAR_057777 disease not phenotype-associated
VAR_057778 commonName VAR_057778
VAR_057778 disease not phenotype-associated
VAR_057779 commonName VAR_057779
VAR_057779 disease not phenotype-associated
VAR_057780 commonName VAR_057780
VAR_057780 disease not phenotype-associated
VAR_057781 commonName VAR_057781
VAR_057781 disease not phenotype-associated
VAR_057782 commonName VAR_057782
VAR_057782 disease not phenotype-associated
VAR_057783 commonName VAR_057783
VAR_057783 disease not phenotype-associated
VAR_057784 commonName VAR_057784
VAR_057784 disease not phenotype-associated
VAR_057785 commonName VAR_057785
VAR_057785 disease not phenotype-associated
VAR_057786 commonName VAR_057786
VAR_057786 disease not phenotype-associated
VAR_057787 commonName VAR_057787
VAR_057787 disease not phenotype-associated
VAR_057788 commonName VAR_057788
VAR_057788 disease not phenotype-associated
VAR_057789 commonName VAR_057789
VAR_057789 disease not phenotype-associated
VAR_057791 commonName VAR_057791
VAR_057791 disease not phenotype-associated
VAR_057792 commonName VAR_057792
VAR_057792 disease not phenotype-associated
VAR_057793 commonName VAR_057793
VAR_057793 disease not phenotype-associated
VAR_057794 commonName VAR_057794
VAR_057794 disease not phenotype-associated
VAR_057795 commonName VAR_057795
VAR_057795 disease not phenotype-associated
VAR_057796 commonName VAR_057796
VAR_057796 disease not phenotype-associated
VAR_057797 commonName VAR_057797
VAR_057797 disease not phenotype-associated
VAR_057798 commonName VAR_057798
VAR_057798 disease not phenotype-associated
VAR_057799 commonName VAR_057799
VAR_057799 disease not phenotype-associated
VAR_057800 commonName VAR_057800
VAR_057800 disease not phenotype-associated
VAR_057802 commonName VAR_057802
VAR_057802 disease not phenotype-associated
VAR_057803 commonName VAR_057803
VAR_057803 disease not phenotype-associated
VAR_057804 commonName VAR_057804
VAR_057804 disease not phenotype-associated
VAR_057805 commonName VAR_057805
VAR_057805 disease not phenotype-associated
VAR_057806 commonName VAR_057806
VAR_057806 disease not phenotype-associated
VAR_057808 commonName VAR_057808
VAR_057808 disease not phenotype-associated
VAR_057809 commonName VAR_057809
VAR_057809 disease not phenotype-associated
VAR_057810 commonName VAR_057810
VAR_057810 disease not phenotype-associated
VAR_057812 commonName VAR_057812
VAR_057812 disease not phenotype-associated
VAR_057813 commonName VAR_057813
VAR_057813 disease not phenotype-associated
VAR_057814 commonName VAR_057814
VAR_057814 disease not phenotype-associated
VAR_057815 commonName VAR_057815
VAR_057815 disease not phenotype-associated
VAR_057816 commonName VAR_057816
VAR_057816 disease not phenotype-associated
VAR_057817 commonName VAR_057817
VAR_057817 disease not phenotype-associated
VAR_057818 commonName VAR_057818
VAR_057818 disease not phenotype-associated
VAR_057819 commonName VAR_057819
VAR_057819 disease not phenotype-associated
VAR_057820 commonName VAR_057820
VAR_057820 disease not phenotype-associated
VAR_057821 commonName VAR_057821
VAR_057821 disease not phenotype-associated
VAR_057822 commonName VAR_057822
VAR_057822 disease not phenotype-associated
VAR_057823 commonName VAR_057823
VAR_057823 disease not phenotype-associated
VAR_057824 commonName VAR_057824
VAR_057824 disease not phenotype-associated
VAR_057825 commonName VAR_057825
VAR_057825 disease not phenotype-associated
VAR_057826 commonName VAR_057826
VAR_057826 disease not phenotype-associated
VAR_057827 commonName VAR_057827
VAR_057827 disease not phenotype-associated
VAR_057828 commonName VAR_057828
VAR_057828 disease not phenotype-associated
VAR_057829 commonName VAR_057829
VAR_057829 disease not phenotype-associated
VAR_057831 commonName VAR_057831
VAR_057831 disease not phenotype-associated
VAR_057833 commonName VAR_057833
VAR_057833 disease phenotype-associated
VAR_057833 phenoCommon Agammaglobulinemia type 6 (AGM6) [MIM:612692]
VAR_057834 commonName VAR_057834
VAR_057834 disease phenotype-associated
VAR_057834 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057835 commonName VAR_057835
VAR_057835 disease phenotype-associated
VAR_057835 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057835 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057836 commonName VAR_057836
VAR_057836 disease not phenotype-associated
VAR_057837 commonName VAR_057837
VAR_057837 disease phenotype-associated
VAR_057837 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057838 commonName VAR_057838
VAR_057838 disease phenotype-associated
VAR_057838 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057839 commonName VAR_057839
VAR_057839 disease phenotype-associated
VAR_057839 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057840 commonName VAR_057840
VAR_057840 disease phenotype-associated
VAR_057840 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057841 commonName VAR_057841
VAR_057841 disease phenotype-associated
VAR_057841 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057842 commonName VAR_057842
VAR_057842 disease not phenotype-associated
VAR_057843 commonName VAR_057843
VAR_057844 commonName VAR_057844
VAR_057844 disease phenotype-associated
VAR_057844 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057846 commonName VAR_057846
VAR_057846 disease phenotype-associated
VAR_057846 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057847 commonName VAR_057847
VAR_057847 disease not phenotype-associated
VAR_057848 commonName VAR_057848
VAR_057848 disease phenotype-associated
VAR_057848 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057849 commonName VAR_057849
VAR_057849 disease phenotype-associated
VAR_057849 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057850 commonName VAR_057850
VAR_057850 disease phenotype-associated
VAR_057850 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057851 commonName VAR_057851
VAR_057851 disease phenotype-associated
VAR_057851 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057851 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057852 commonName VAR_057852
VAR_057852 disease phenotype-associated
VAR_057852 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057853 commonName VAR_057853
VAR_057853 disease phenotype-associated
VAR_057853 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057854 commonName VAR_057854
VAR_057854 disease phenotype-associated
VAR_057854 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057855 commonName VAR_057855
VAR_057855 disease not phenotype-associated
VAR_057856 commonName VAR_057856
VAR_057856 disease phenotype-associated
VAR_057856 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057857 commonName VAR_057857
VAR_057857 disease phenotype-associated
VAR_057857 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057858 commonName VAR_057858
VAR_057858 disease phenotype-associated
VAR_057858 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057859 commonName VAR_057859
VAR_057859 disease phenotype-associated
VAR_057859 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057860 commonName VAR_057860
VAR_057860 disease phenotype-associated
VAR_057860 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057861 commonName VAR_057861
VAR_057861 disease not phenotype-associated
VAR_057862 commonName VAR_057862
VAR_057862 disease phenotype-associated
VAR_057862 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057863 commonName VAR_057863
VAR_057863 disease phenotype-associated
VAR_057863 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057864 commonName VAR_057864
VAR_057864 disease phenotype-associated
VAR_057864 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057865 commonName VAR_057865
VAR_057865 disease phenotype-associated
VAR_057865 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057866 commonName VAR_057866
VAR_057866 disease phenotype-associated
VAR_057866 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057867 commonName VAR_057867
VAR_057867 disease not phenotype-associated
VAR_057868 commonName VAR_057868
VAR_057868 disease phenotype-associated
VAR_057868 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057869 commonName VAR_057869
VAR_057870 commonName VAR_057870
VAR_057870 disease phenotype-associated
VAR_057870 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057871 commonName VAR_057871
VAR_057871 disease phenotype-associated
VAR_057871 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057872 commonName VAR_057872
VAR_057872 disease phenotype-associated
VAR_057872 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057873 commonName VAR_057873
VAR_057873 disease phenotype-associated
VAR_057873 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057874 commonName VAR_057874
VAR_057874 disease phenotype-associated
VAR_057874 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057875 commonName VAR_057875
VAR_057875 disease phenotype-associated
VAR_057875 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057876 commonName VAR_057876
VAR_057876 disease phenotype-associated
VAR_057876 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057878 commonName VAR_057878
VAR_057878 disease phenotype-associated
VAR_057878 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057879 commonName VAR_057879
VAR_057879 disease not phenotype-associated
VAR_057880 commonName VAR_057880
VAR_057880 disease phenotype-associated
VAR_057880 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
VAR_057881 commonName VAR_057881
VAR_057881 disease phenotype-associated
VAR_057881 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
VAR_057882 commonName VAR_057882
VAR_057882 disease not phenotype-associated
VAR_057883 commonName VAR_057883
VAR_057883 disease not phenotype-associated
VAR_057886 commonName VAR_057886
VAR_057887 commonName VAR_057887
VAR_057888 commonName VAR_057888
VAR_057889 commonName VAR_057889
VAR_057890 commonName VAR_057890
VAR_057891 commonName VAR_057891
VAR_057892 commonName VAR_057892
VAR_057893 commonName VAR_057893
VAR_057894 commonName VAR_057894
VAR_057895 commonName VAR_057895
VAR_057895 disease not phenotype-associated
VAR_057896 commonName VAR_057896
VAR_057896 disease not phenotype-associated
VAR_057897 commonName VAR_057897
VAR_057897 disease not phenotype-associated
VAR_057898 commonName VAR_057898
VAR_057898 disease not phenotype-associated
VAR_057899 commonName VAR_057899
VAR_057899 disease not phenotype-associated
VAR_057900 commonName VAR_057900
VAR_057900 disease not phenotype-associated
VAR_057901 commonName VAR_057901
VAR_057901 disease phenotype-associated
VAR_057901 phenoCommon Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085]
VAR_057902 commonName VAR_057902
VAR_057902 disease phenotype-associated
VAR_057902 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_057902 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
VAR_057903 commonName VAR_057903
VAR_057903 disease phenotype-associated
VAR_057903 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_057903 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
VAR_057904 commonName VAR_057904
VAR_057905 commonName VAR_057905
VAR_057906 commonName VAR_057906
VAR_057907 commonName VAR_057907
VAR_057908 commonName VAR_057908
VAR_057908 disease not phenotype-associated
VAR_057909 commonName VAR_057909
VAR_057909 disease phenotype-associated
VAR_057909 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
VAR_057909 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
VAR_057910 commonName VAR_057910
VAR_057910 disease not phenotype-associated
VAR_057911 commonName VAR_057911
VAR_057911 disease not phenotype-associated
VAR_057912 commonName VAR_057912
VAR_057912 disease not phenotype-associated
VAR_057913 commonName VAR_057913
VAR_057913 disease not phenotype-associated
VAR_057914 commonName VAR_057914
VAR_057914 disease phenotype-associated
VAR_057914 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057915 commonName VAR_057915
VAR_057915 disease phenotype-associated
VAR_057915 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057916 commonName VAR_057916
VAR_057916 disease phenotype-associated
VAR_057916 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057917 commonName VAR_057917
VAR_057917 disease phenotype-associated
VAR_057917 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057918 commonName VAR_057918
VAR_057918 disease phenotype-associated
VAR_057918 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057919 commonName VAR_057919
VAR_057919 disease phenotype-associated
VAR_057919 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057920 commonName VAR_057920
VAR_057920 disease phenotype-associated
VAR_057920 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057921 commonName VAR_057921
VAR_057921 disease phenotype-associated
VAR_057921 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057922 commonName VAR_057922
VAR_057922 disease phenotype-associated
VAR_057922 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057923 commonName VAR_057923
VAR_057923 disease phenotype-associated
VAR_057923 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057924 commonName VAR_057924
VAR_057924 disease phenotype-associated
VAR_057924 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057925 commonName VAR_057925
VAR_057925 disease phenotype-associated
VAR_057925 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057926 commonName VAR_057926
VAR_057926 disease phenotype-associated
VAR_057926 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057927 commonName VAR_057927
VAR_057927 disease phenotype-associated
VAR_057927 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057928 commonName VAR_057928
VAR_057928 disease phenotype-associated
VAR_057928 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057929 commonName VAR_057929
VAR_057929 disease phenotype-associated
VAR_057929 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057930 commonName VAR_057930
VAR_057930 disease phenotype-associated
VAR_057930 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057931 commonName VAR_057931
VAR_057931 disease phenotype-associated
VAR_057931 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057932 commonName VAR_057932
VAR_057932 disease phenotype-associated
VAR_057932 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057933 commonName VAR_057933
VAR_057933 disease phenotype-associated
VAR_057933 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057934 commonName VAR_057934
VAR_057934 disease phenotype-associated
VAR_057934 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057935 commonName VAR_057935
VAR_057935 disease phenotype-associated
VAR_057935 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057936 commonName VAR_057936
VAR_057936 disease phenotype-associated
VAR_057936 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057937 commonName VAR_057937
VAR_057937 disease phenotype-associated
VAR_057937 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057938 commonName VAR_057938
VAR_057938 disease phenotype-associated
VAR_057938 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057939 commonName VAR_057939
VAR_057939 disease phenotype-associated
VAR_057939 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057940 commonName VAR_057940
VAR_057940 disease phenotype-associated
VAR_057940 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057941 commonName VAR_057941
VAR_057941 disease phenotype-associated
VAR_057941 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057942 commonName VAR_057942
VAR_057942 disease phenotype-associated
VAR_057942 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057943 commonName VAR_057943
VAR_057943 disease phenotype-associated
VAR_057943 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057944 commonName VAR_057944
VAR_057944 disease phenotype-associated
VAR_057944 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057945 commonName VAR_057945
VAR_057945 disease phenotype-associated
VAR_057945 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]
VAR_057946 commonName VAR_057946
VAR_057946 disease not phenotype-associated
VAR_057947 commonName VAR_057947
VAR_057947 disease not phenotype-associated
VAR_057948 commonName VAR_057948
VAR_057948 disease not phenotype-associated
VAR_057949 commonName VAR_057949
VAR_057949 disease not phenotype-associated
VAR_057950 commonName VAR_057950
VAR_057950 disease not phenotype-associated
VAR_057951 commonName VAR_057951
VAR_057951 disease not phenotype-associated
VAR_057953 commonName VAR_057953
VAR_057954 commonName VAR_057954
VAR_057954 disease phenotype-associated
VAR_057954 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630]
VAR_057955 commonName VAR_057955
VAR_057955 disease not phenotype-associated
VAR_057956 commonName VAR_057956
VAR_057956 disease not phenotype-associated
VAR_057957 commonName VAR_057957
VAR_057957 disease not phenotype-associated
VAR_057958 commonName VAR_057958
VAR_057958 disease not phenotype-associated
VAR_057959 commonName VAR_057959
VAR_057960 commonName VAR_057960
VAR_057961 commonName VAR_057961
VAR_057961 disease phenotype-associated
VAR_057961 phenoCommon Cone-rod dystrophy type 12 (CORD12) [MIM:612657]
VAR_057961 phenoCommon Retinal macular dystrophy type 2 (MCDR2) [MIM:608051]
VAR_057961 phenoCommon Stargardt disease type 4 (STGD4) [MIM:603786]
VAR_057962 commonName VAR_057962
VAR_057962 disease phenotype-associated
VAR_057962 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_057963 commonName VAR_057963
VAR_057963 disease phenotype-associated
VAR_057963 phenoCommon Kallmann syndrome type 6 (KAL6) [MIM:612702]
VAR_057964 commonName VAR_057964
VAR_057964 disease phenotype-associated
VAR_057964 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_057965 commonName VAR_057965
VAR_057965 disease phenotype-associated
VAR_057965 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
VAR_057966 commonName VAR_057966
VAR_057966 disease phenotype-associated
VAR_057966 phenoCommon Kallmann syndrome type 6 (KAL6) [MIM:612702]
VAR_057968 commonName VAR_057968
VAR_057968 disease not phenotype-associated
VAR_057969 commonName VAR_057969
VAR_057969 disease not phenotype-associated
VAR_057970 commonName VAR_057970
VAR_057970 disease not phenotype-associated
VAR_057971 commonName VAR_057971
VAR_057971 disease not phenotype-associated
VAR_057972 commonName VAR_057972
VAR_057972 disease not phenotype-associated
VAR_057973 commonName VAR_057973
VAR_057973 disease not phenotype-associated
VAR_057974 commonName VAR_057974
VAR_057974 disease not phenotype-associated
VAR_057975 commonName VAR_057975
VAR_057975 disease not phenotype-associated
VAR_057976 commonName VAR_057976
VAR_057976 disease not phenotype-associated
VAR_057977 commonName VAR_057977
VAR_057977 disease not phenotype-associated
VAR_057978 commonName VAR_057978
VAR_057978 disease not phenotype-associated
VAR_057979 commonName VAR_057979
VAR_057979 disease not phenotype-associated
VAR_057980 commonName VAR_057980
VAR_057980 disease not phenotype-associated
VAR_057981 comment A glioma cell line
VAR_057981 commonName VAR_057981
VAR_057982 comment A glioma cell line
VAR_057982 commonName VAR_057982
VAR_057983 commonName VAR_057983
VAR_057983 disease not phenotype-associated
VAR_057984 commonName VAR_057984
VAR_057984 disease not phenotype-associated
VAR_057985 commonName VAR_057985
VAR_057985 disease not phenotype-associated
VAR_057986 commonName VAR_057986
VAR_057986 disease not phenotype-associated
VAR_057987 commonName VAR_057987
VAR_057987 disease not phenotype-associated
VAR_057988 commonName VAR_057988
VAR_057988 disease not phenotype-associated
VAR_057989 commonName VAR_057989
VAR_057989 disease not phenotype-associated
VAR_057990 commonName VAR_057990
VAR_057990 disease not phenotype-associated
VAR_057992 commonName VAR_057992
VAR_057992 disease not phenotype-associated
VAR_057993 commonName VAR_057993
VAR_057993 disease not phenotype-associated
VAR_057994 commonName VAR_057994
VAR_057994 disease phenotype-associated
VAR_057994 phenoCommon Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]
VAR_057995 commonName VAR_057995
VAR_057995 disease phenotype-associated
VAR_057995 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_057996 commonName VAR_057996
VAR_057996 disease phenotype-associated
VAR_057996 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]
VAR_057997 commonName VAR_057997
VAR_057997 disease phenotype-associated
VAR_057997 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]
VAR_057998 commonName VAR_057998
VAR_057998 disease phenotype-associated
VAR_057998 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_057999 commonName VAR_057999
VAR_057999 disease phenotype-associated
VAR_057999 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_058000 commonName VAR_058000
VAR_058000 disease phenotype-associated
VAR_058000 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_058001 commonName VAR_058001
VAR_058001 disease not phenotype-associated
VAR_058002 commonName VAR_058002
VAR_058002 disease not phenotype-associated
VAR_058005 commonName VAR_058005
VAR_058005 disease phenotype-associated
VAR_058005 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300]
VAR_058007 commonName VAR_058007
VAR_058007 disease phenotype-associated
VAR_058007 phenoCommon Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
VAR_058008 commonName VAR_058008
VAR_058008 disease phenotype-associated
VAR_058008 phenoCommon Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
VAR_058009 commonName VAR_058009
VAR_058009 disease not phenotype-associated
VAR_058010 commonName VAR_058010
VAR_058010 disease not phenotype-associated
VAR_058011 commonName VAR_058011
VAR_058011 disease not phenotype-associated
VAR_058012 commonName VAR_058012
VAR_058012 disease not phenotype-associated
VAR_058014 commonName VAR_058014
VAR_058014 disease not phenotype-associated
VAR_058015 commonName VAR_058015
VAR_058015 disease not phenotype-associated
VAR_058016 commonName VAR_058016
VAR_058016 disease not phenotype-associated
VAR_058017 commonName VAR_058017
VAR_058017 disease not phenotype-associated
VAR_058018 commonName VAR_058018
VAR_058018 disease not phenotype-associated
VAR_058019 commonName VAR_058019
VAR_058019 disease not phenotype-associated
VAR_058020 commonName VAR_058020
VAR_058020 disease not phenotype-associated
VAR_058022 commonName VAR_058022
VAR_058022 disease phenotype-associated
VAR_058022 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058023 commonName VAR_058023
VAR_058023 disease phenotype-associated
VAR_058023 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058024 commonName VAR_058024
VAR_058024 disease phenotype-associated
VAR_058024 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058025 commonName VAR_058025
VAR_058025 disease phenotype-associated
VAR_058025 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058026 commonName VAR_058026
VAR_058026 disease phenotype-associated
VAR_058026 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058027 commonName VAR_058027
VAR_058027 disease phenotype-associated
VAR_058027 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058028 commonName VAR_058028
VAR_058028 disease phenotype-associated
VAR_058028 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058029 commonName VAR_058029
VAR_058029 disease phenotype-associated
VAR_058029 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058030 commonName VAR_058030
VAR_058030 disease phenotype-associated
VAR_058030 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058031 commonName VAR_058031
VAR_058031 disease not phenotype-associated
VAR_058032 commonName VAR_058032
VAR_058032 disease phenotype-associated
VAR_058032 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
VAR_058033 commonName VAR_058033
VAR_058033 disease not phenotype-associated
VAR_058035 commonName VAR_058035
VAR_058035 disease not phenotype-associated
VAR_058036 commonName VAR_058036
VAR_058036 disease not phenotype-associated
VAR_058037 commonName VAR_058037
VAR_058038 commonName VAR_058038
VAR_058038 disease phenotype-associated
VAR_058038 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_058039 commonName VAR_058039
VAR_058039 disease phenotype-associated
VAR_058039 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653]
VAR_058044 commonName VAR_058044
VAR_058044 disease phenotype-associated
VAR_058044 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058045 commonName VAR_058045
VAR_058045 disease phenotype-associated
VAR_058045 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058046 commonName VAR_058046
VAR_058046 disease phenotype-associated
VAR_058046 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058047 commonName VAR_058047
VAR_058047 disease phenotype-associated
VAR_058047 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058048 commonName VAR_058048
VAR_058049 commonName VAR_058049
VAR_058050 commonName VAR_058050
VAR_058050 disease phenotype-associated
VAR_058050 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058051 commonName VAR_058051
VAR_058051 disease phenotype-associated
VAR_058051 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058052 commonName VAR_058052
VAR_058052 disease phenotype-associated
VAR_058052 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058053 commonName VAR_058053
VAR_058053 disease phenotype-associated
VAR_058053 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058054 commonName VAR_058054
VAR_058054 disease phenotype-associated
VAR_058054 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058055 commonName VAR_058055
VAR_058055 disease phenotype-associated
VAR_058055 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058056 commonName VAR_058056
VAR_058057 commonName VAR_058057
VAR_058057 disease phenotype-associated
VAR_058057 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058058 commonName VAR_058058
VAR_058058 disease phenotype-associated
VAR_058058 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058059 commonName VAR_058059
VAR_058060 commonName VAR_058060
VAR_058061 commonName VAR_058061
VAR_058062 commonName VAR_058062
VAR_058063 commonName VAR_058063
VAR_058064 commonName VAR_058064
VAR_058064 disease phenotype-associated
VAR_058064 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058065 commonName VAR_058065
VAR_058066 commonName VAR_058066
VAR_058066 disease phenotype-associated
VAR_058066 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058067 commonName VAR_058067
VAR_058068 commonName VAR_058068
VAR_058069 commonName VAR_058069
VAR_058069 disease phenotype-associated
VAR_058069 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058070 commonName VAR_058070
VAR_058070 disease phenotype-associated
VAR_058070 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058071 commonName VAR_058071
VAR_058071 disease phenotype-associated
VAR_058071 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058072 commonName VAR_058072
VAR_058073 commonName VAR_058073
VAR_058073 disease phenotype-associated
VAR_058073 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
VAR_058074 commonName VAR_058074
VAR_058075 commonName VAR_058075
VAR_058075 disease phenotype-associated
VAR_058075 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058076 commonName VAR_058076
VAR_058077 commonName VAR_058077
VAR_058078 commonName VAR_058078
VAR_058079 commonName VAR_058079
VAR_058079 disease phenotype-associated
VAR_058079 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058080 commonName VAR_058080
VAR_058080 disease phenotype-associated
VAR_058080 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058081 commonName VAR_058081
VAR_058081 disease phenotype-associated
VAR_058081 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058082 commonName VAR_058082
VAR_058082 disease phenotype-associated
VAR_058082 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_058083 commonName VAR_058083
VAR_058083 disease phenotype-associated
VAR_058083 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_058084 commonName VAR_058084
VAR_058085 commonName VAR_058085
VAR_058085 disease not phenotype-associated
VAR_058086 commonName VAR_058086
VAR_058088 commonName VAR_058088
VAR_058088 disease not phenotype-associated
VAR_058089 commonName VAR_058089
VAR_058089 disease not phenotype-associated
VAR_058091 commonName VAR_058091
VAR_058091 disease not phenotype-associated
VAR_058092 commonName VAR_058092
VAR_058092 disease not phenotype-associated
VAR_058093 commonName VAR_058093
VAR_058093 disease phenotype-associated
VAR_058093 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]
VAR_058094 commonName VAR_058094
VAR_058094 disease phenotype-associated
VAR_058094 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]
VAR_058095 commonName VAR_058095
VAR_058095 disease phenotype-associated
VAR_058095 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]
VAR_058096 commonName VAR_058096
VAR_058096 disease phenotype-associated
VAR_058096 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]
VAR_058097 commonName VAR_058097
VAR_058097 disease phenotype-associated
VAR_058097 phenoCommon Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
VAR_058098 commonName VAR_058098
VAR_058098 disease phenotype-associated
VAR_058098 phenoCommon Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]
VAR_058099 commonName VAR_058099
VAR_058099 disease phenotype-associated
VAR_058099 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690]
VAR_058100 commonName VAR_058100
VAR_058100 disease phenotype-associated
VAR_058100 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690]
VAR_058101 commonName VAR_058101
VAR_058101 disease phenotype-associated
VAR_058101 phenoCommon Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]
VAR_058102 commonName VAR_058102
VAR_058102 disease phenotype-associated
VAR_058102 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058103 commonName VAR_058103
VAR_058103 disease phenotype-associated
VAR_058103 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058104 commonName VAR_058104
VAR_058104 disease phenotype-associated
VAR_058104 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058105 commonName VAR_058105
VAR_058105 disease phenotype-associated
VAR_058105 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058106 commonName VAR_058106
VAR_058106 disease phenotype-associated
VAR_058106 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058107 commonName VAR_058107
VAR_058107 disease phenotype-associated
VAR_058107 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
VAR_058108 commonName VAR_058108
VAR_058109 commonName VAR_058109
VAR_058110 commonName VAR_058110
VAR_058111 commonName VAR_058111
VAR_058112 commonName VAR_058112
VAR_058112 disease phenotype-associated
VAR_058112 phenoCommon Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]
VAR_058113 commonName VAR_058113
VAR_058113 disease phenotype-associated
VAR_058113 phenoCommon Congenital clubfoot (CCF) [MIM:119800]
VAR_058114 commonName VAR_058114
VAR_058114 disease not phenotype-associated
VAR_058115 commonName VAR_058115
VAR_058115 disease not phenotype-associated
VAR_058116 commonName VAR_058116
VAR_058116 disease phenotype-associated
VAR_058116 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150]
VAR_058117 commonName VAR_058117
VAR_058117 disease not phenotype-associated
VAR_058118 commonName VAR_058118
VAR_058118 disease not phenotype-associated
VAR_058119 commonName VAR_058119
VAR_058119 disease not phenotype-associated
VAR_058120 commonName VAR_058120
VAR_058120 disease phenotype-associated
VAR_058120 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150]
VAR_058121 commonName VAR_058121
VAR_058121 disease not phenotype-associated
VAR_058122 commonName VAR_058122
VAR_058122 disease not phenotype-associated
VAR_058123 commonName VAR_058123
VAR_058123 disease not phenotype-associated
VAR_058124 commonName VAR_058124
VAR_058124 disease not phenotype-associated
VAR_058125 commonName VAR_058125
VAR_058125 disease not phenotype-associated
VAR_058128 commonName VAR_058128
VAR_058128 disease not phenotype-associated
VAR_058129 commonName VAR_058129
VAR_058129 disease not phenotype-associated
VAR_058130 commonName VAR_058130
VAR_058130 disease not phenotype-associated
VAR_058131 comment Chronic myelomonocytic leukemia
VAR_058131 commonName VAR_058131
VAR_058132 commonName VAR_058132
VAR_058132 disease not phenotype-associated
VAR_058133 commonName VAR_058133
VAR_058134 commonName VAR_058134
VAR_058134 disease not phenotype-associated
VAR_058135 commonName VAR_058135
VAR_058136 commonName VAR_058136
VAR_058136 disease not phenotype-associated
VAR_058137 commonName VAR_058137
VAR_058137 disease not phenotype-associated
VAR_058138 comment A chronic myelomonocytic leukemia sample
VAR_058138 commonName VAR_058138
VAR_058171 commonName VAR_058171
VAR_058171 disease not phenotype-associated
VAR_058172 comment A chronic myelomonocytic leukemia sample
VAR_058172 commonName VAR_058172
VAR_058173 commonName VAR_058173
VAR_058173 disease not phenotype-associated
VAR_058174 comment An acute myeloid leukemia sample
VAR_058174 commonName VAR_058174
VAR_058175 comment A chronic myelomonocytic leukemia sample
VAR_058175 commonName VAR_058175
VAR_058176 comment A chronic myelomonocytic leukemia sample
VAR_058176 commonName VAR_058176
VAR_058177 commonName VAR_058177
VAR_058177 disease not phenotype-associated
VAR_058178 comment A chronic myelomonocytic leukemia sample
VAR_058178 commonName VAR_058178
VAR_058179 commonName VAR_058179
VAR_058179 disease not phenotype-associated
VAR_058180 commonName VAR_058180
VAR_058180 disease not phenotype-associated
VAR_058181 commonName VAR_058181
VAR_058199 commonName VAR_058199
VAR_058199 disease not phenotype-associated
VAR_058200 commonName VAR_058200
VAR_058200 disease not phenotype-associated
VAR_058201 commonName VAR_058201
VAR_058201 disease not phenotype-associated
VAR_058202 commonName VAR_058202
VAR_058202 disease not phenotype-associated
VAR_058203 commonName VAR_058203
VAR_058203 disease not phenotype-associated
VAR_058204 commonName VAR_058204
VAR_058204 disease not phenotype-associated
VAR_058205 commonName VAR_058205
VAR_058205 disease not phenotype-associated
VAR_058206 commonName VAR_058206
VAR_058206 disease not phenotype-associated
VAR_058207 commonName VAR_058207
VAR_058207 disease not phenotype-associated
VAR_058208 commonName VAR_058208
VAR_058208 disease not phenotype-associated
VAR_058209 commonName VAR_058209
VAR_058209 disease not phenotype-associated
VAR_058210 commonName VAR_058210
VAR_058210 disease phenotype-associated
VAR_058210 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_058211 commonName VAR_058211
VAR_058211 disease phenotype-associated
VAR_058211 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_058212 commonName VAR_058212
VAR_058212 disease phenotype-associated
VAR_058212 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600]
VAR_058213 commonName VAR_058213
VAR_058213 disease phenotype-associated
VAR_058213 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058214 commonName VAR_058214
VAR_058214 disease phenotype-associated
VAR_058214 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058215 commonName VAR_058215
VAR_058215 disease phenotype-associated
VAR_058215 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058216 commonName VAR_058216
VAR_058216 disease phenotype-associated
VAR_058216 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058217 commonName VAR_058217
VAR_058217 disease phenotype-associated
VAR_058217 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058218 commonName VAR_058218
VAR_058218 disease phenotype-associated
VAR_058218 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058219 commonName VAR_058219
VAR_058219 disease phenotype-associated
VAR_058219 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058219 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058220 commonName VAR_058220
VAR_058220 disease not phenotype-associated
VAR_058221 commonName VAR_058221
VAR_058221 disease phenotype-associated
VAR_058221 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058222 commonName VAR_058222
VAR_058222 disease phenotype-associated
VAR_058222 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058223 commonName VAR_058223
VAR_058223 disease not phenotype-associated
VAR_058224 commonName VAR_058224
VAR_058224 disease not phenotype-associated
VAR_058225 commonName VAR_058225
VAR_058225 disease phenotype-associated
VAR_058225 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058226 commonName VAR_058226
VAR_058226 disease phenotype-associated
VAR_058226 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058227 commonName VAR_058227
VAR_058227 disease not phenotype-associated
VAR_058228 commonName VAR_058228
VAR_058228 disease phenotype-associated
VAR_058228 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058229 commonName VAR_058229
VAR_058229 disease not phenotype-associated
VAR_058230 commonName VAR_058230
VAR_058230 disease phenotype-associated
VAR_058230 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058231 commonName VAR_058231
VAR_058231 disease phenotype-associated
VAR_058231 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058232 commonName VAR_058232
VAR_058232 disease not phenotype-associated
VAR_058233 commonName VAR_058233
VAR_058233 disease phenotype-associated
VAR_058233 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058234 commonName VAR_058234
VAR_058234 disease phenotype-associated
VAR_058234 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058235 commonName VAR_058235
VAR_058235 disease not phenotype-associated
VAR_058236 commonName VAR_058236
VAR_058236 disease phenotype-associated
VAR_058236 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058237 commonName VAR_058237
VAR_058237 disease phenotype-associated
VAR_058237 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058238 commonName VAR_058238
VAR_058238 disease phenotype-associated
VAR_058238 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058239 commonName VAR_058239
VAR_058239 disease not phenotype-associated
VAR_058241 commonName VAR_058241
VAR_058241 disease phenotype-associated
VAR_058241 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058242 commonName VAR_058242
VAR_058242 disease not phenotype-associated
VAR_058243 commonName VAR_058243
VAR_058243 disease not phenotype-associated
VAR_058244 commonName VAR_058244
VAR_058244 disease not phenotype-associated
VAR_058245 commonName VAR_058245
VAR_058245 disease phenotype-associated
VAR_058245 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058246 commonName VAR_058246
VAR_058246 disease not phenotype-associated
VAR_058247 commonName VAR_058247
VAR_058247 disease not phenotype-associated
VAR_058248 commonName VAR_058248
VAR_058248 disease phenotype-associated
VAR_058248 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058249 commonName VAR_058249
VAR_058249 disease phenotype-associated
VAR_058249 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058250 commonName VAR_058250
VAR_058250 disease phenotype-associated
VAR_058250 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058251 commonName VAR_058251
VAR_058251 disease phenotype-associated
VAR_058251 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058252 commonName VAR_058252
VAR_058252 disease phenotype-associated
VAR_058252 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058253 commonName VAR_058253
VAR_058253 disease not phenotype-associated
VAR_058254 commonName VAR_058254
VAR_058254 disease not phenotype-associated
VAR_058255 commonName VAR_058255
VAR_058255 disease phenotype-associated
VAR_058255 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
VAR_058256 commonName VAR_058256
VAR_058256 disease not phenotype-associated
VAR_058257 commonName VAR_058257
VAR_058257 disease phenotype-associated
VAR_058257 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058258 commonName VAR_058258
VAR_058258 disease phenotype-associated
VAR_058258 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058259 commonName VAR_058259
VAR_058259 disease phenotype-associated
VAR_058259 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058260 commonName VAR_058260
VAR_058260 disease phenotype-associated
VAR_058260 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058261 commonName VAR_058261
VAR_058261 disease phenotype-associated
VAR_058261 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058262 commonName VAR_058262
VAR_058262 disease not phenotype-associated
VAR_058263 commonName VAR_058263
VAR_058263 disease not phenotype-associated
VAR_058264 commonName VAR_058264
VAR_058264 disease phenotype-associated
VAR_058264 phenoCommon Bethlem myopathy (BM) [MIM:158810]
VAR_058265 commonName VAR_058265
VAR_058265 disease phenotype-associated
VAR_058265 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_058266 commonName VAR_058266
VAR_058266 disease phenotype-associated
VAR_058266 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_058267 commonName VAR_058267
VAR_058267 disease phenotype-associated
VAR_058267 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_058268 commonName VAR_058268
VAR_058268 disease phenotype-associated
VAR_058268 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_058269 commonName VAR_058269
VAR_058269 disease phenotype-associated
VAR_058269 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]
VAR_058272 commonName VAR_058272
VAR_058272 disease not phenotype-associated
VAR_058273 commonName VAR_058273
VAR_058273 disease phenotype-associated
VAR_058273 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_058274 commonName VAR_058274
VAR_058274 disease phenotype-associated
VAR_058274 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
VAR_058275 commonName VAR_058275
VAR_058275 disease phenotype-associated
VAR_058275 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
VAR_058276 commonName VAR_058276
VAR_058276 disease phenotype-associated
VAR_058276 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
VAR_058277 commonName VAR_058277
VAR_058277 disease phenotype-associated
VAR_058277 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_058285 commonName VAR_058285
VAR_058285 disease not phenotype-associated
VAR_058286 commonName VAR_058286
VAR_058286 disease not phenotype-associated
VAR_058290 commonName VAR_058290
VAR_058290 disease not phenotype-associated
VAR_058291 commonName VAR_058291
VAR_058291 disease not phenotype-associated
VAR_058292 commonName VAR_058292
VAR_058292 disease not phenotype-associated
VAR_058293 commonName VAR_058293
VAR_058293 disease not phenotype-associated
VAR_058294 commonName VAR_058294
VAR_058294 disease not phenotype-associated
VAR_058296 commonName VAR_058296
VAR_058296 disease not phenotype-associated
VAR_058298 commonName VAR_058298
VAR_058298 disease not phenotype-associated
VAR_058299 commonName VAR_058299
VAR_058299 disease not phenotype-associated
VAR_058300 commonName VAR_058300
VAR_058300 disease not phenotype-associated
VAR_058301 commonName VAR_058301
VAR_058301 disease not phenotype-associated
VAR_058302 commonName VAR_058302
VAR_058302 disease not phenotype-associated
VAR_058303 commonName VAR_058303
VAR_058303 disease not phenotype-associated
VAR_058304 commonName VAR_058304
VAR_058304 disease not phenotype-associated
VAR_058305 commonName VAR_058305
VAR_058305 disease not phenotype-associated
VAR_058306 commonName VAR_058306
VAR_058306 disease not phenotype-associated
VAR_058307 commonName VAR_058307
VAR_058307 disease not phenotype-associated
VAR_058308 commonName VAR_058308
VAR_058308 disease not phenotype-associated
VAR_058310 commonName VAR_058310
VAR_058310 disease not phenotype-associated
VAR_058313 commonName VAR_058313
VAR_058313 disease phenotype-associated
VAR_058313 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
VAR_058314 commonName VAR_058314
VAR_058314 disease not phenotype-associated
VAR_058315 commonName VAR_058315
VAR_058315 disease phenotype-associated
VAR_058315 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
VAR_058316 commonName VAR_058316
VAR_058316 disease not phenotype-associated
VAR_058317 commonName VAR_058317
VAR_058317 disease phenotype-associated
VAR_058317 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
VAR_058318 commonName VAR_058318
VAR_058318 disease phenotype-associated
VAR_058318 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
VAR_058319 commonName VAR_058319
VAR_058319 disease phenotype-associated
VAR_058319 phenoCommon Jalili syndrome (JALIS) [MIM:217080]
VAR_058320 commonName VAR_058320
VAR_058320 disease phenotype-associated
VAR_058320 phenoCommon Jalili syndrome (JALIS) [MIM:217080]
VAR_058321 commonName VAR_058321
VAR_058321 disease phenotype-associated
VAR_058321 phenoCommon Jalili syndrome (JALIS) [MIM:217080]
VAR_058322 commonName VAR_058322
VAR_058322 disease phenotype-associated
VAR_058322 phenoCommon Jalili syndrome (JALIS) [MIM:217080]
VAR_058323 commonName VAR_058323
VAR_058323 disease not phenotype-associated
VAR_058324 commonName VAR_058324
VAR_058324 disease not phenotype-associated
VAR_058325 commonName VAR_058325
VAR_058325 disease not phenotype-associated
VAR_058326 commonName VAR_058326
VAR_058326 disease not phenotype-associated
VAR_058327 commonName VAR_058327
VAR_058327 disease not phenotype-associated
VAR_058328 commonName VAR_058328
VAR_058328 disease not phenotype-associated
VAR_058329 commonName VAR_058329
VAR_058329 disease not phenotype-associated
VAR_058330 commonName VAR_058330
VAR_058330 disease not phenotype-associated
VAR_058331 commonName VAR_058331
VAR_058331 disease not phenotype-associated
VAR_058332 commonName VAR_058332
VAR_058332 disease not phenotype-associated
VAR_058333 commonName VAR_058333
VAR_058333 disease not phenotype-associated
VAR_058334 commonName VAR_058334
VAR_058334 disease not phenotype-associated
VAR_058335 commonName VAR_058335
VAR_058335 disease not phenotype-associated
VAR_058336 commonName VAR_058336
VAR_058336 disease not phenotype-associated
VAR_058337 commonName VAR_058337
VAR_058337 disease phenotype-associated
VAR_058337 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058338 commonName VAR_058338
VAR_058338 disease phenotype-associated
VAR_058338 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058339 commonName VAR_058339
VAR_058339 disease phenotype-associated
VAR_058339 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058340 commonName VAR_058340
VAR_058340 disease phenotype-associated
VAR_058340 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058341 commonName VAR_058341
VAR_058341 disease phenotype-associated
VAR_058341 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058342 commonName VAR_058342
VAR_058342 disease phenotype-associated
VAR_058342 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058343 commonName VAR_058343
VAR_058343 disease phenotype-associated
VAR_058343 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058344 commonName VAR_058344
VAR_058344 disease phenotype-associated
VAR_058344 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058345 commonName VAR_058345
VAR_058345 disease phenotype-associated
VAR_058345 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058346 commonName VAR_058346
VAR_058346 disease phenotype-associated
VAR_058346 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058347 commonName VAR_058347
VAR_058347 disease phenotype-associated
VAR_058347 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058348 commonName VAR_058348
VAR_058348 disease phenotype-associated
VAR_058348 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058349 commonName VAR_058349
VAR_058349 disease phenotype-associated
VAR_058349 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058350 commonName VAR_058350
VAR_058350 disease phenotype-associated
VAR_058350 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058351 commonName VAR_058351
VAR_058351 disease phenotype-associated
VAR_058351 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058352 commonName VAR_058352
VAR_058352 disease phenotype-associated
VAR_058352 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058353 commonName VAR_058353
VAR_058353 disease phenotype-associated
VAR_058353 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058354 commonName VAR_058354
VAR_058354 disease phenotype-associated
VAR_058354 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058355 commonName VAR_058355
VAR_058355 disease phenotype-associated
VAR_058355 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058356 commonName VAR_058356
VAR_058356 disease phenotype-associated
VAR_058356 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058357 commonName VAR_058357
VAR_058357 disease phenotype-associated
VAR_058357 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058358 commonName VAR_058358
VAR_058358 disease phenotype-associated
VAR_058358 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058359 commonName VAR_058359
VAR_058359 disease phenotype-associated
VAR_058359 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058360 commonName VAR_058360
VAR_058360 disease phenotype-associated
VAR_058360 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700]
VAR_058361 commonName VAR_058361
VAR_058361 disease not phenotype-associated
VAR_058362 commonName VAR_058362
VAR_058362 disease not phenotype-associated
VAR_058363 commonName VAR_058363
VAR_058363 disease not phenotype-associated
VAR_058364 commonName VAR_058364
VAR_058364 disease phenotype-associated
VAR_058364 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058365 commonName VAR_058365
VAR_058365 disease phenotype-associated
VAR_058365 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058366 commonName VAR_058366
VAR_058366 disease phenotype-associated
VAR_058366 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058367 commonName VAR_058367
VAR_058367 disease phenotype-associated
VAR_058367 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058368 commonName VAR_058368
VAR_058368 disease phenotype-associated
VAR_058368 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058369 commonName VAR_058369
VAR_058369 disease phenotype-associated
VAR_058369 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058370 commonName VAR_058370
VAR_058370 disease phenotype-associated
VAR_058370 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058371 commonName VAR_058371
VAR_058371 disease phenotype-associated
VAR_058371 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058372 commonName VAR_058372
VAR_058372 disease phenotype-associated
VAR_058372 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058373 commonName VAR_058373
VAR_058373 disease phenotype-associated
VAR_058373 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058374 commonName VAR_058374
VAR_058374 disease phenotype-associated
VAR_058374 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058375 commonName VAR_058375
VAR_058375 disease phenotype-associated
VAR_058375 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050]
VAR_058376 commonName VAR_058376
VAR_058376 disease phenotype-associated
VAR_058376 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]
VAR_058377 commonName VAR_058377
VAR_058377 disease phenotype-associated
VAR_058377 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]
VAR_058378 commonName VAR_058378
VAR_058378 disease phenotype-associated
VAR_058378 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]
VAR_058379 commonName VAR_058379
VAR_058379 disease not phenotype-associated
VAR_058381 commonName VAR_058381
VAR_058381 disease not phenotype-associated
VAR_058382 commonName VAR_058382
VAR_058382 disease phenotype-associated
VAR_058382 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]
VAR_058383 commonName VAR_058383
VAR_058383 disease not phenotype-associated
VAR_058384 commonName VAR_058384
VAR_058384 disease phenotype-associated
VAR_058384 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]
VAR_058385 commonName VAR_058385
VAR_058385 disease phenotype-associated
VAR_058385 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]
VAR_058386 commonName VAR_058386
VAR_058386 disease phenotype-associated
VAR_058386 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]
VAR_058387 commonName VAR_058387
VAR_058387 disease not phenotype-associated
VAR_058388 commonName VAR_058388
VAR_058388 disease not phenotype-associated
VAR_058389 commonName VAR_058389
VAR_058389 disease phenotype-associated
VAR_058389 phenoCommon Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]
VAR_058392 comment A lung cancer cell line
VAR_058392 commonName VAR_058392
VAR_058394 comment A lung cancer cell line
VAR_058394 commonName VAR_058394
VAR_058395 commonName VAR_058395
VAR_058395 disease not phenotype-associated
VAR_058396 commonName VAR_058396
VAR_058396 disease not phenotype-associated
VAR_058397 commonName VAR_058397
VAR_058397 disease not phenotype-associated
VAR_058398 commonName VAR_058398
VAR_058398 disease not phenotype-associated
VAR_058399 commonName VAR_058399
VAR_058399 disease not phenotype-associated
VAR_058400 commonName VAR_058400
VAR_058400 disease not phenotype-associated
VAR_058401 commonName VAR_058401
VAR_058401 disease not phenotype-associated
VAR_058402 commonName VAR_058402
VAR_058402 disease not phenotype-associated
VAR_058403 commonName VAR_058403
VAR_058403 disease not phenotype-associated
VAR_058404 commonName VAR_058404
VAR_058404 disease not phenotype-associated
VAR_058405 commonName VAR_058405
VAR_058405 disease not phenotype-associated
VAR_058406 commonName VAR_058406
VAR_058406 disease not phenotype-associated
VAR_058408 commonName VAR_058408
VAR_058408 disease not phenotype-associated
VAR_058409 commonName VAR_058409
VAR_058409 disease not phenotype-associated
VAR_058410 commonName VAR_058410
VAR_058410 disease not phenotype-associated
VAR_058411 commonName VAR_058411
VAR_058411 disease not phenotype-associated
VAR_058412 commonName VAR_058412
VAR_058412 disease not phenotype-associated
VAR_058413 commonName VAR_058413
VAR_058413 disease not phenotype-associated
VAR_058414 commonName VAR_058414
VAR_058414 disease not phenotype-associated
VAR_058415 commonName VAR_058415
VAR_058415 disease not phenotype-associated
VAR_058416 commonName VAR_058416
VAR_058416 disease not phenotype-associated
VAR_058417 commonName VAR_058417
VAR_058417 disease phenotype-associated
VAR_058417 phenoCommon Spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]
VAR_058419 commonName VAR_058419
VAR_058419 disease phenotype-associated
VAR_058419 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058420 commonName VAR_058420
VAR_058420 disease phenotype-associated
VAR_058420 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058421 commonName VAR_058421
VAR_058421 disease phenotype-associated
VAR_058421 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058422 commonName VAR_058422
VAR_058422 disease phenotype-associated
VAR_058422 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058423 commonName VAR_058423
VAR_058423 disease phenotype-associated
VAR_058423 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058424 commonName VAR_058424
VAR_058424 disease phenotype-associated
VAR_058424 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058425 commonName VAR_058425
VAR_058425 disease phenotype-associated
VAR_058425 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
VAR_058426 commonName VAR_058426
VAR_058427 commonName VAR_058427
VAR_058427 disease phenotype-associated
VAR_058427 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058428 commonName VAR_058428
VAR_058428 disease phenotype-associated
VAR_058428 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058429 commonName VAR_058429
VAR_058429 disease phenotype-associated
VAR_058429 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058430 commonName VAR_058430
VAR_058430 disease phenotype-associated
VAR_058430 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058431 commonName VAR_058431
VAR_058431 disease phenotype-associated
VAR_058431 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058432 commonName VAR_058432
VAR_058432 disease phenotype-associated
VAR_058432 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058433 commonName VAR_058433
VAR_058433 disease phenotype-associated
VAR_058433 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_058434 commonName VAR_058434
VAR_058434 disease phenotype-associated
VAR_058434 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_058436 commonName VAR_058436
VAR_058436 disease phenotype-associated
VAR_058436 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_058437 commonName VAR_058437
VAR_058437 disease phenotype-associated
VAR_058437 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_058438 commonName VAR_058438
VAR_058438 disease phenotype-associated
VAR_058438 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_058439 commonName VAR_058439
VAR_058439 disease phenotype-associated
VAR_058439 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_058440 commonName VAR_058440
VAR_058440 disease phenotype-associated
VAR_058440 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058441 commonName VAR_058441
VAR_058441 disease phenotype-associated
VAR_058441 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058442 commonName VAR_058442
VAR_058442 disease phenotype-associated
VAR_058442 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058443 commonName VAR_058443
VAR_058443 disease phenotype-associated
VAR_058443 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058444 commonName VAR_058444
VAR_058444 disease phenotype-associated
VAR_058444 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058445 commonName VAR_058445
VAR_058445 disease phenotype-associated
VAR_058445 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058446 commonName VAR_058446
VAR_058446 disease phenotype-associated
VAR_058446 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058447 commonName VAR_058447
VAR_058447 disease phenotype-associated
VAR_058447 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058448 commonName VAR_058448
VAR_058448 disease phenotype-associated
VAR_058448 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_058451 commonName VAR_058451
VAR_058451 disease not phenotype-associated
VAR_058452 commonName VAR_058452
VAR_058452 disease not phenotype-associated
VAR_058453 commonName VAR_058453
VAR_058453 disease not phenotype-associated
VAR_058454 commonName VAR_058454
VAR_058454 disease not phenotype-associated
VAR_058455 commonName VAR_058455
VAR_058455 disease phenotype-associated
VAR_058455 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693]
VAR_058456 commonName VAR_058456
VAR_058457 commonName VAR_058457
VAR_058457 disease not phenotype-associated
VAR_058458 commonName VAR_058458
VAR_058458 disease not phenotype-associated
VAR_058459 commonName VAR_058459
VAR_058459 disease not phenotype-associated
VAR_058460 commonName VAR_058460
VAR_058460 disease not phenotype-associated
VAR_058461 commonName VAR_058461
VAR_058461 disease not phenotype-associated
VAR_058462 commonName VAR_058462
VAR_058462 disease phenotype-associated
VAR_058462 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_058463 commonName VAR_058463
VAR_058463 disease phenotype-associated
VAR_058463 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_058464 commonName VAR_058464
VAR_058464 disease phenotype-associated
VAR_058464 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]
VAR_058465 commonName VAR_058465
VAR_058465 disease not phenotype-associated
VAR_058466 commonName VAR_058466
VAR_058466 disease not phenotype-associated
VAR_058467 commonName VAR_058467
VAR_058467 disease phenotype-associated
VAR_058467 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058469 commonName VAR_058469
VAR_058469 disease phenotype-associated
VAR_058469 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058470 commonName VAR_058470
VAR_058470 disease phenotype-associated
VAR_058470 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058471 commonName VAR_058471
VAR_058471 disease phenotype-associated
VAR_058471 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058472 commonName VAR_058472
VAR_058472 disease phenotype-associated
VAR_058472 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058473 commonName VAR_058473
VAR_058473 disease phenotype-associated
VAR_058473 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058474 commonName VAR_058474
VAR_058474 disease phenotype-associated
VAR_058474 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058475 commonName VAR_058475
VAR_058475 disease phenotype-associated
VAR_058475 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058476 commonName VAR_058476
VAR_058476 disease phenotype-associated
VAR_058476 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
VAR_058477 commonName VAR_058477
VAR_058477 disease not phenotype-associated
VAR_058478 commonName VAR_058478
VAR_058478 disease not phenotype-associated
VAR_058480 commonName VAR_058480
VAR_058480 disease not phenotype-associated
VAR_058481 commonName VAR_058481
VAR_058481 disease phenotype-associated
VAR_058481 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058482 commonName VAR_058482
VAR_058482 disease phenotype-associated
VAR_058482 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058483 commonName VAR_058483
VAR_058483 disease phenotype-associated
VAR_058483 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058484 commonName VAR_058484
VAR_058484 disease phenotype-associated
VAR_058484 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058485 commonName VAR_058485
VAR_058485 disease phenotype-associated
VAR_058485 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058485 phenoCommon Chilblain lupus type 2 (CHBL2) [MIM:614415]
VAR_058486 commonName VAR_058486
VAR_058486 disease phenotype-associated
VAR_058486 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058487 commonName VAR_058487
VAR_058487 disease phenotype-associated
VAR_058487 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058488 commonName VAR_058488
VAR_058488 disease phenotype-associated
VAR_058488 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058489 commonName VAR_058489
VAR_058489 disease phenotype-associated
VAR_058489 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]
VAR_058490 commonName VAR_058490
VAR_058490 disease not phenotype-associated
VAR_058491 commonName VAR_058491
VAR_058491 disease phenotype-associated
VAR_058491 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_058492 commonName VAR_058492
VAR_058492 disease phenotype-associated
VAR_058492 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
VAR_058493 commonName VAR_058493
VAR_058493 disease not phenotype-associated
VAR_058495 commonName VAR_058495
VAR_058495 disease not phenotype-associated
VAR_058497 commonName VAR_058497
VAR_058497 disease phenotype-associated
VAR_058497 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058498 commonName VAR_058498
VAR_058498 disease phenotype-associated
VAR_058498 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058499 commonName VAR_058499
VAR_058499 disease phenotype-associated
VAR_058499 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058500 commonName VAR_058500
VAR_058500 disease phenotype-associated
VAR_058500 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058501 commonName VAR_058501
VAR_058501 disease phenotype-associated
VAR_058501 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058502 commonName VAR_058502
VAR_058502 disease phenotype-associated
VAR_058502 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058503 commonName VAR_058503
VAR_058503 disease phenotype-associated
VAR_058503 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058504 commonName VAR_058504
VAR_058504 disease phenotype-associated
VAR_058504 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058505 commonName VAR_058505
VAR_058505 disease phenotype-associated
VAR_058505 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058506 commonName VAR_058506
VAR_058506 disease phenotype-associated
VAR_058506 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]
VAR_058507 commonName VAR_058507
VAR_058507 disease phenotype-associated
VAR_058507 phenoCommon Pulmonary surfactant metabolism dysfunction type 4 (SMDP4) [MIM:300770]
VAR_058508 commonName VAR_058508
VAR_058508 disease phenotype-associated
VAR_058508 phenoCommon Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
VAR_058509 commonName VAR_058509
VAR_058509 disease not phenotype-associated
VAR_058510 commonName VAR_058510
VAR_058510 disease not phenotype-associated
VAR_058511 commonName VAR_058511
VAR_058511 disease phenotype-associated
VAR_058511 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058512 commonName VAR_058512
VAR_058512 disease phenotype-associated
VAR_058512 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058513 commonName VAR_058513
VAR_058513 disease phenotype-associated
VAR_058513 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058514 commonName VAR_058514
VAR_058514 disease phenotype-associated
VAR_058514 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058516 commonName VAR_058516
VAR_058516 disease phenotype-associated
VAR_058516 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058517 commonName VAR_058517
VAR_058517 disease phenotype-associated
VAR_058517 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058518 commonName VAR_058518
VAR_058518 disease phenotype-associated
VAR_058518 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058519 commonName VAR_058519
VAR_058519 disease phenotype-associated
VAR_058519 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
VAR_058520 commonName VAR_058520
VAR_058520 disease not phenotype-associated
VAR_058521 commonName VAR_058521
VAR_058521 disease not phenotype-associated
VAR_058522 commonName VAR_058522
VAR_058522 disease not phenotype-associated
VAR_058523 commonName VAR_058523
VAR_058523 disease not phenotype-associated
VAR_058524 commonName VAR_058524
VAR_058524 disease phenotype-associated
VAR_058524 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058525 commonName VAR_058525
VAR_058525 disease not phenotype-associated
VAR_058526 commonName VAR_058526
VAR_058526 disease phenotype-associated
VAR_058526 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058527 commonName VAR_058527
VAR_058527 disease phenotype-associated
VAR_058527 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058528 commonName VAR_058528
VAR_058528 disease not phenotype-associated
VAR_058529 commonName VAR_058529
VAR_058529 disease not phenotype-associated
VAR_058530 commonName VAR_058530
VAR_058530 disease phenotype-associated
VAR_058530 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058531 commonName VAR_058531
VAR_058531 disease phenotype-associated
VAR_058531 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058532 commonName VAR_058532
VAR_058532 disease phenotype-associated
VAR_058532 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058533 commonName VAR_058533
VAR_058533 disease not phenotype-associated
VAR_058534 commonName VAR_058534
VAR_058534 disease phenotype-associated
VAR_058534 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776]
VAR_058535 commonName VAR_058535
VAR_058535 disease not phenotype-associated
VAR_058536 commonName VAR_058536
VAR_058536 disease not phenotype-associated
VAR_058537 commonName VAR_058537
VAR_058537 disease not phenotype-associated
VAR_058538 commonName VAR_058538
VAR_058538 disease phenotype-associated
VAR_058538 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058539 commonName VAR_058539
VAR_058539 disease phenotype-associated
VAR_058539 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058540 commonName VAR_058540
VAR_058540 disease phenotype-associated
VAR_058540 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058541 commonName VAR_058541
VAR_058541 disease phenotype-associated
VAR_058541 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058542 commonName VAR_058542
VAR_058542 disease phenotype-associated
VAR_058542 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058543 commonName VAR_058543
VAR_058543 disease phenotype-associated
VAR_058543 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058544 commonName VAR_058544
VAR_058544 disease phenotype-associated
VAR_058544 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058545 commonName VAR_058545
VAR_058545 disease phenotype-associated
VAR_058545 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058546 commonName VAR_058546
VAR_058546 disease phenotype-associated
VAR_058546 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058547 commonName VAR_058547
VAR_058547 disease phenotype-associated
VAR_058547 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058548 commonName VAR_058548
VAR_058548 disease phenotype-associated
VAR_058548 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512]
VAR_058550 commonName VAR_058550
VAR_058551 commonName VAR_058551
VAR_058551 disease phenotype-associated
VAR_058551 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058553 commonName VAR_058553
VAR_058553 disease phenotype-associated
VAR_058553 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058554 commonName VAR_058554
VAR_058555 commonName VAR_058555
VAR_058555 disease phenotype-associated
VAR_058555 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058556 commonName VAR_058556
VAR_058556 disease phenotype-associated
VAR_058556 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058557 commonName VAR_058557
VAR_058557 disease phenotype-associated
VAR_058557 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058558 commonName VAR_058558
VAR_058558 disease phenotype-associated
VAR_058558 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
VAR_058559 commonName VAR_058559
VAR_058560 commonName VAR_058560
VAR_058560 disease phenotype-associated
VAR_058560 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058561 commonName VAR_058561
VAR_058561 disease phenotype-associated
VAR_058561 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058562 commonName VAR_058562
VAR_058562 disease phenotype-associated
VAR_058562 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058563 commonName VAR_058563
VAR_058563 disease phenotype-associated
VAR_058563 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058564 commonName VAR_058564
VAR_058564 disease phenotype-associated
VAR_058564 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058565 commonName VAR_058565
VAR_058565 disease phenotype-associated
VAR_058565 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058566 commonName VAR_058566
VAR_058566 disease phenotype-associated
VAR_058566 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058567 commonName VAR_058567
VAR_058567 disease not phenotype-associated
VAR_058568 commonName VAR_058568
VAR_058568 disease phenotype-associated
VAR_058568 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058569 commonName VAR_058569
VAR_058569 disease phenotype-associated
VAR_058569 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058570 commonName VAR_058570
VAR_058570 disease not phenotype-associated
VAR_058571 commonName VAR_058571
VAR_058571 disease phenotype-associated
VAR_058571 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058572 commonName VAR_058572
VAR_058572 disease phenotype-associated
VAR_058572 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058573 commonName VAR_058573
VAR_058573 disease phenotype-associated
VAR_058573 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058574 commonName VAR_058574
VAR_058574 disease phenotype-associated
VAR_058574 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058575 commonName VAR_058575
VAR_058575 disease not phenotype-associated
VAR_058576 commonName VAR_058576
VAR_058576 disease phenotype-associated
VAR_058576 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058577 commonName VAR_058577
VAR_058577 disease phenotype-associated
VAR_058577 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058578 commonName VAR_058578
VAR_058578 disease phenotype-associated
VAR_058578 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058579 commonName VAR_058579
VAR_058579 disease phenotype-associated
VAR_058579 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_058580 commonName VAR_058580
VAR_058580 disease phenotype-associated
VAR_058580 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_058580 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_058581 commonName VAR_058581
VAR_058581 disease phenotype-associated
VAR_058581 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_058581 phenoCommon Pendred syndrome (PDS) [MIM:274600]
VAR_058583 commonName VAR_058583
VAR_058583 disease not phenotype-associated
VAR_058584 commonName VAR_058584
VAR_058584 disease not phenotype-associated
VAR_058585 commonName VAR_058585
VAR_058585 disease not phenotype-associated
VAR_058586 commonName VAR_058586
VAR_058586 disease not phenotype-associated
VAR_058587 commonName VAR_058587
VAR_058587 disease not phenotype-associated
VAR_058588 commonName VAR_058588
VAR_058588 disease phenotype-associated
VAR_058588 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
VAR_058589 commonName VAR_058589
VAR_058589 disease phenotype-associated
VAR_058589 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
VAR_058590 commonName VAR_058590
VAR_058590 disease phenotype-associated
VAR_058590 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
VAR_058591 commonName VAR_058591
VAR_058591 disease phenotype-associated
VAR_058591 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
VAR_058592 commonName VAR_058592
VAR_058592 disease phenotype-associated
VAR_058592 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058593 commonName VAR_058593
VAR_058593 disease phenotype-associated
VAR_058593 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058594 commonName VAR_058594
VAR_058594 disease phenotype-associated
VAR_058594 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058595 commonName VAR_058595
VAR_058595 disease phenotype-associated
VAR_058595 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058596 commonName VAR_058596
VAR_058596 disease phenotype-associated
VAR_058596 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058597 commonName VAR_058597
VAR_058597 disease phenotype-associated
VAR_058597 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058598 commonName VAR_058598
VAR_058598 disease phenotype-associated
VAR_058598 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058599 commonName VAR_058599
VAR_058599 disease phenotype-associated
VAR_058599 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058600 commonName VAR_058600
VAR_058600 disease phenotype-associated
VAR_058600 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058601 commonName VAR_058601
VAR_058601 disease phenotype-associated
VAR_058601 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058602 commonName VAR_058602
VAR_058602 disease phenotype-associated
VAR_058602 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058603 commonName VAR_058603
VAR_058603 disease phenotype-associated
VAR_058603 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058604 commonName VAR_058604
VAR_058604 disease phenotype-associated
VAR_058604 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058605 commonName VAR_058605
VAR_058605 disease phenotype-associated
VAR_058605 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058606 commonName VAR_058606
VAR_058606 disease phenotype-associated
VAR_058606 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058607 commonName VAR_058607
VAR_058607 disease phenotype-associated
VAR_058607 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058608 commonName VAR_058608
VAR_058608 disease phenotype-associated
VAR_058608 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058609 commonName VAR_058609
VAR_058609 disease phenotype-associated
VAR_058609 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058610 commonName VAR_058610
VAR_058610 disease phenotype-associated
VAR_058610 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637]
VAR_058611 commonName VAR_058611
VAR_058611 disease phenotype-associated
VAR_058611 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058612 commonName VAR_058612
VAR_058612 disease phenotype-associated
VAR_058612 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058613 commonName VAR_058613
VAR_058613 disease phenotype-associated
VAR_058613 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058614 commonName VAR_058614
VAR_058614 disease phenotype-associated
VAR_058614 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058615 commonName VAR_058615
VAR_058615 disease phenotype-associated
VAR_058615 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058616 commonName VAR_058616
VAR_058616 disease phenotype-associated
VAR_058616 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058617 commonName VAR_058617
VAR_058617 disease phenotype-associated
VAR_058617 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058618 commonName VAR_058618
VAR_058618 disease phenotype-associated
VAR_058618 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058619 commonName VAR_058619
VAR_058619 disease phenotype-associated
VAR_058619 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_058620 commonName VAR_058620
VAR_058621 commonName VAR_058621
VAR_058621 disease phenotype-associated
VAR_058621 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058621 phenoCommon LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707]
VAR_058622 commonName VAR_058622
VAR_058623 commonName VAR_058623
VAR_058623 disease phenotype-associated
VAR_058623 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058624 commonName VAR_058624
VAR_058624 disease phenotype-associated
VAR_058624 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058625 commonName VAR_058625
VAR_058625 disease phenotype-associated
VAR_058625 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058626 commonName VAR_058626
VAR_058626 disease phenotype-associated
VAR_058626 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058627 commonName VAR_058627
VAR_058627 disease phenotype-associated
VAR_058627 phenoCommon Noonan syndrome type 7 (NS7) [MIM:613706]
VAR_058628 commonName VAR_058628
VAR_058628 disease phenotype-associated
VAR_058628 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058629 commonName VAR_058629
VAR_058629 disease phenotype-associated
VAR_058629 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058630 commonName VAR_058630
VAR_058630 disease phenotype-associated
VAR_058630 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058631 commonName VAR_058631
VAR_058631 disease phenotype-associated
VAR_058631 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_058632 commonName VAR_058632
VAR_058632 disease phenotype-associated
VAR_058632 phenoCommon Pitt-Hopkins syndrome (PTHS) [MIM:610954]
VAR_058635 commonName VAR_058635
VAR_058635 disease not phenotype-associated
VAR_058636 commonName VAR_058636
VAR_058636 disease not phenotype-associated
VAR_058637 commonName VAR_058637
VAR_058637 disease phenotype-associated
VAR_058637 phenoCommon Brugada syndrome type 6 (BRGDA6) [MIM:613119]
VAR_058638 commonName VAR_058638
VAR_058638 disease phenotype-associated
VAR_058638 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058639 commonName VAR_058639
VAR_058639 disease phenotype-associated
VAR_058639 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058640 commonName VAR_058640
VAR_058640 disease phenotype-associated
VAR_058640 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058641 commonName VAR_058641
VAR_058641 disease phenotype-associated
VAR_058641 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058642 commonName VAR_058642
VAR_058642 disease phenotype-associated
VAR_058642 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058643 commonName VAR_058643
VAR_058643 disease phenotype-associated
VAR_058643 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058644 commonName VAR_058644
VAR_058644 disease phenotype-associated
VAR_058644 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058645 commonName VAR_058645
VAR_058645 disease phenotype-associated
VAR_058645 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058646 commonName VAR_058646
VAR_058646 disease phenotype-associated
VAR_058646 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058647 commonName VAR_058647
VAR_058647 disease phenotype-associated
VAR_058647 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058648 commonName VAR_058648
VAR_058648 disease phenotype-associated
VAR_058648 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058649 commonName VAR_058649
VAR_058649 disease phenotype-associated
VAR_058649 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058650 commonName VAR_058650
VAR_058650 disease phenotype-associated
VAR_058650 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058651 commonName VAR_058651
VAR_058651 disease phenotype-associated
VAR_058651 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058652 commonName VAR_058652
VAR_058652 disease phenotype-associated
VAR_058652 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058653 commonName VAR_058653
VAR_058653 disease phenotype-associated
VAR_058653 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058654 commonName VAR_058654
VAR_058654 disease phenotype-associated
VAR_058654 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058655 commonName VAR_058655
VAR_058655 disease phenotype-associated
VAR_058655 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058656 commonName VAR_058656
VAR_058656 disease phenotype-associated
VAR_058656 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058657 commonName VAR_058657
VAR_058657 disease phenotype-associated
VAR_058657 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058658 commonName VAR_058658
VAR_058658 disease phenotype-associated
VAR_058658 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058659 commonName VAR_058659
VAR_058659 disease phenotype-associated
VAR_058659 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058660 commonName VAR_058660
VAR_058660 disease phenotype-associated
VAR_058660 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058661 commonName VAR_058661
VAR_058661 disease phenotype-associated
VAR_058661 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058662 commonName VAR_058662
VAR_058662 disease phenotype-associated
VAR_058662 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058663 commonName VAR_058663
VAR_058663 disease phenotype-associated
VAR_058663 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058664 commonName VAR_058664
VAR_058664 disease phenotype-associated
VAR_058664 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058665 commonName VAR_058665
VAR_058665 disease phenotype-associated
VAR_058665 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058666 commonName VAR_058666
VAR_058666 disease phenotype-associated
VAR_058666 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058667 commonName VAR_058667
VAR_058667 disease phenotype-associated
VAR_058667 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058668 commonName VAR_058668
VAR_058668 disease phenotype-associated
VAR_058668 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058669 commonName VAR_058669
VAR_058669 disease phenotype-associated
VAR_058669 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058670 commonName VAR_058670
VAR_058670 disease phenotype-associated
VAR_058670 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058671 commonName VAR_058671
VAR_058671 disease phenotype-associated
VAR_058671 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058672 commonName VAR_058672
VAR_058672 disease phenotype-associated
VAR_058672 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058673 commonName VAR_058673
VAR_058673 disease phenotype-associated
VAR_058673 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058674 commonName VAR_058674
VAR_058674 disease phenotype-associated
VAR_058674 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058675 commonName VAR_058675
VAR_058675 disease phenotype-associated
VAR_058675 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058676 commonName VAR_058676
VAR_058676 disease phenotype-associated
VAR_058676 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058677 commonName VAR_058677
VAR_058677 disease phenotype-associated
VAR_058677 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058678 commonName VAR_058678
VAR_058678 disease phenotype-associated
VAR_058678 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058679 commonName VAR_058679
VAR_058679 disease phenotype-associated
VAR_058679 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058680 commonName VAR_058680
VAR_058680 disease phenotype-associated
VAR_058680 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058681 commonName VAR_058681
VAR_058681 disease phenotype-associated
VAR_058681 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058682 commonName VAR_058682
VAR_058682 disease phenotype-associated
VAR_058682 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058683 commonName VAR_058683
VAR_058683 disease phenotype-associated
VAR_058683 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058684 commonName VAR_058684
VAR_058684 disease phenotype-associated
VAR_058684 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058685 commonName VAR_058685
VAR_058685 disease phenotype-associated
VAR_058685 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058686 commonName VAR_058686
VAR_058686 disease phenotype-associated
VAR_058686 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058687 commonName VAR_058687
VAR_058687 disease phenotype-associated
VAR_058687 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058688 commonName VAR_058688
VAR_058688 disease phenotype-associated
VAR_058688 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058689 commonName VAR_058689
VAR_058689 disease phenotype-associated
VAR_058689 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]
VAR_058690 commonName VAR_058690
VAR_058690 disease not phenotype-associated
VAR_058691 commonName VAR_058691
VAR_058691 disease not phenotype-associated
VAR_058692 commonName VAR_058692
VAR_058692 disease not phenotype-associated
VAR_058693 commonName VAR_058693
VAR_058693 disease not phenotype-associated
VAR_058694 commonName VAR_058694
VAR_058694 disease not phenotype-associated
VAR_058695 commonName VAR_058695
VAR_058695 disease not phenotype-associated
VAR_058696 commonName VAR_058696
VAR_058696 disease not phenotype-associated
VAR_058697 commonName VAR_058697
VAR_058697 disease not phenotype-associated
VAR_058698 commonName VAR_058698
VAR_058698 disease not phenotype-associated
VAR_058699 commonName VAR_058699
VAR_058699 disease not phenotype-associated
VAR_058701 commonName VAR_058701
VAR_058701 disease not phenotype-associated
VAR_058702 commonName VAR_058702
VAR_058702 disease not phenotype-associated
VAR_058703 commonName VAR_058703
VAR_058703 disease not phenotype-associated
VAR_058704 commonName VAR_058704
VAR_058704 disease not phenotype-associated
VAR_058705 commonName VAR_058705
VAR_058705 disease phenotype-associated
VAR_058705 phenoCommon Paragangliomas type 2 (PGL2) [MIM:601650]
VAR_058706 commonName VAR_058706
VAR_058706 disease not phenotype-associated
VAR_058708 commonName VAR_058708
VAR_058708 disease not phenotype-associated
VAR_058709 commonName VAR_058709
VAR_058709 disease not phenotype-associated
VAR_058710 commonName VAR_058710
VAR_058710 disease not phenotype-associated
VAR_058711 commonName VAR_058711
VAR_058711 disease not phenotype-associated
VAR_058712 commonName VAR_058712
VAR_058712 disease not phenotype-associated
VAR_058713 commonName VAR_058713
VAR_058713 disease not phenotype-associated
VAR_058714 commonName VAR_058714
VAR_058714 disease not phenotype-associated
VAR_058715 commonName VAR_058715
VAR_058715 disease phenotype-associated
VAR_058715 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]
VAR_058716 commonName VAR_058716
VAR_058716 disease phenotype-associated
VAR_058716 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]
VAR_058717 commonName VAR_058717
VAR_058717 disease phenotype-associated
VAR_058717 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]
VAR_058718 commonName VAR_058718
VAR_058718 disease phenotype-associated
VAR_058718 phenoCommon Diarrhea type 3 (DIAR3) [MIM:270420]
VAR_058719 commonName VAR_058719
VAR_058719 disease phenotype-associated
VAR_058719 phenoCommon FG syndrome type 4 (FGS4) [MIM:300422]
VAR_058720 commonName VAR_058720
VAR_058720 disease phenotype-associated
VAR_058720 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
VAR_058721 commonName VAR_058721
VAR_058721 disease phenotype-associated
VAR_058721 phenoCommon FG syndrome type 2 (FGS2) [MIM:300321]
VAR_058722 commonName VAR_058722
VAR_058723 commonName VAR_058723
VAR_058724 commonName VAR_058724
VAR_058725 commonName VAR_058725
VAR_058726 commonName VAR_058726
VAR_058727 commonName VAR_058727
VAR_058728 commonName VAR_058728
VAR_058729 commonName VAR_058729
VAR_058730 commonName VAR_058730
VAR_058730 disease phenotype-associated
VAR_058730 phenoCommon Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]
VAR_058731 commonName VAR_058731
VAR_058732 commonName VAR_058732
VAR_058733 commonName VAR_058733
VAR_058734 commonName VAR_058734
VAR_058735 commonName VAR_058735
VAR_058735 disease phenotype-associated
VAR_058735 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058736 commonName VAR_058736
VAR_058736 disease phenotype-associated
VAR_058736 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058737 commonName VAR_058737
VAR_058737 disease phenotype-associated
VAR_058737 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058738 commonName VAR_058738
VAR_058738 disease phenotype-associated
VAR_058738 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058739 commonName VAR_058739
VAR_058739 disease phenotype-associated
VAR_058739 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058740 commonName VAR_058740
VAR_058740 disease phenotype-associated
VAR_058740 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]
VAR_058741 commonName VAR_058741
VAR_058741 disease phenotype-associated
VAR_058741 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058742 commonName VAR_058742
VAR_058742 disease phenotype-associated
VAR_058742 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058743 commonName VAR_058743
VAR_058743 disease phenotype-associated
VAR_058743 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058744 commonName VAR_058744
VAR_058744 disease phenotype-associated
VAR_058744 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058746 commonName VAR_058746
VAR_058746 disease phenotype-associated
VAR_058746 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058747 commonName VAR_058747
VAR_058747 disease phenotype-associated
VAR_058747 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058748 commonName VAR_058748
VAR_058748 disease phenotype-associated
VAR_058748 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_058749 commonName VAR_058749
VAR_058749 disease not phenotype-associated
VAR_058750 commonName VAR_058750
VAR_058750 disease not phenotype-associated
VAR_058753 commonName VAR_058753
VAR_058753 disease not phenotype-associated
VAR_058754 commonName VAR_058754
VAR_058754 disease phenotype-associated
VAR_058754 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_058755 commonName VAR_058755
VAR_058755 disease phenotype-associated
VAR_058755 phenoCommon Cohen syndrome (COH1) [MIM:216550]
VAR_058756 commonName VAR_058756
VAR_058756 disease not phenotype-associated
VAR_058757 commonName VAR_058757
VAR_058757 disease not phenotype-associated
VAR_058758 commonName VAR_058758
VAR_058758 disease phenotype-associated
VAR_058758 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]
VAR_058759 commonName VAR_058759
VAR_058759 disease not phenotype-associated
VAR_058760 commonName VAR_058760
VAR_058760 disease phenotype-associated
VAR_058760 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058761 commonName VAR_058761
VAR_058761 disease not phenotype-associated
VAR_058762 commonName VAR_058762
VAR_058762 disease phenotype-associated
VAR_058762 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058763 commonName VAR_058763
VAR_058763 disease phenotype-associated
VAR_058763 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058764 commonName VAR_058764
VAR_058764 disease phenotype-associated
VAR_058764 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058765 commonName VAR_058765
VAR_058765 disease phenotype-associated
VAR_058765 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058766 commonName VAR_058766
VAR_058766 disease phenotype-associated
VAR_058766 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058767 commonName VAR_058767
VAR_058767 disease not phenotype-associated
VAR_058768 commonName VAR_058768
VAR_058768 disease phenotype-associated
VAR_058768 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058769 commonName VAR_058769
VAR_058769 disease phenotype-associated
VAR_058769 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058770 commonName VAR_058770
VAR_058770 disease not phenotype-associated
VAR_058771 commonName VAR_058771
VAR_058771 disease not phenotype-associated
VAR_058772 commonName VAR_058772
VAR_058772 disease phenotype-associated
VAR_058772 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058773 commonName VAR_058773
VAR_058773 disease not phenotype-associated
VAR_058775 commonName VAR_058775
VAR_058775 disease phenotype-associated
VAR_058775 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058776 commonName VAR_058776
VAR_058776 disease phenotype-associated
VAR_058776 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058777 commonName VAR_058777
VAR_058777 disease not phenotype-associated
VAR_058778 commonName VAR_058778
VAR_058778 disease not phenotype-associated
VAR_058779 commonName VAR_058779
VAR_058779 disease phenotype-associated
VAR_058779 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058780 commonName VAR_058780
VAR_058780 disease not phenotype-associated
VAR_058781 commonName VAR_058781
VAR_058781 disease phenotype-associated
VAR_058781 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058782 commonName VAR_058782
VAR_058782 disease not phenotype-associated
VAR_058783 commonName VAR_058783
VAR_058783 disease not phenotype-associated
VAR_058784 commonName VAR_058784
VAR_058784 disease not phenotype-associated
VAR_058785 commonName VAR_058785
VAR_058785 disease not phenotype-associated
VAR_058786 commonName VAR_058786
VAR_058786 disease phenotype-associated
VAR_058786 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058787 commonName VAR_058787
VAR_058787 disease phenotype-associated
VAR_058787 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058788 commonName VAR_058788
VAR_058788 disease phenotype-associated
VAR_058788 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058789 commonName VAR_058789
VAR_058789 disease phenotype-associated
VAR_058789 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058791 commonName VAR_058791
VAR_058791 disease phenotype-associated
VAR_058791 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058792 commonName VAR_058792
VAR_058792 disease phenotype-associated
VAR_058792 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058794 commonName VAR_058794
VAR_058794 disease phenotype-associated
VAR_058794 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058795 commonName VAR_058795
VAR_058796 commonName VAR_058796
VAR_058796 disease phenotype-associated
VAR_058796 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058797 commonName VAR_058797
VAR_058797 disease phenotype-associated
VAR_058797 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058798 commonName VAR_058798
VAR_058798 disease not phenotype-associated
VAR_058799 commonName VAR_058799
VAR_058799 disease not phenotype-associated
VAR_058800 commonName VAR_058800
VAR_058800 disease not phenotype-associated
VAR_058802 commonName VAR_058802
VAR_058802 disease not phenotype-associated
VAR_058803 commonName VAR_058803
VAR_058803 disease phenotype-associated
VAR_058803 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058804 commonName VAR_058804
VAR_058804 disease phenotype-associated
VAR_058804 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058806 commonName VAR_058806
VAR_058806 disease phenotype-associated
VAR_058806 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058807 commonName VAR_058807
VAR_058807 disease not phenotype-associated
VAR_058808 commonName VAR_058808
VAR_058808 disease phenotype-associated
VAR_058808 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058809 commonName VAR_058809
VAR_058809 disease phenotype-associated
VAR_058809 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058810 commonName VAR_058810
VAR_058810 disease phenotype-associated
VAR_058810 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058811 commonName VAR_058811
VAR_058811 disease phenotype-associated
VAR_058811 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058812 commonName VAR_058812
VAR_058812 disease phenotype-associated
VAR_058812 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058813 commonName VAR_058813
VAR_058813 disease phenotype-associated
VAR_058813 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058814 commonName VAR_058814
VAR_058814 disease not phenotype-associated
VAR_058815 commonName VAR_058815
VAR_058815 disease not phenotype-associated
VAR_058816 commonName VAR_058816
VAR_058816 disease not phenotype-associated
VAR_058817 commonName VAR_058817
VAR_058817 disease not phenotype-associated
VAR_058818 commonName VAR_058818
VAR_058818 disease phenotype-associated
VAR_058818 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058819 commonName VAR_058819
VAR_058819 disease phenotype-associated
VAR_058819 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_058820 commonName VAR_058820
VAR_058820 disease not phenotype-associated
VAR_058821 commonName VAR_058821
VAR_058821 disease not phenotype-associated
VAR_058822 commonName VAR_058822
VAR_058822 disease phenotype-associated
VAR_058822 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058823 commonName VAR_058823
VAR_058823 disease phenotype-associated
VAR_058823 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058824 commonName VAR_058824
VAR_058824 disease phenotype-associated
VAR_058824 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058825 commonName VAR_058825
VAR_058825 disease phenotype-associated
VAR_058825 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058826 commonName VAR_058826
VAR_058826 disease not phenotype-associated
VAR_058827 commonName VAR_058827
VAR_058827 disease phenotype-associated
VAR_058827 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058828 commonName VAR_058828
VAR_058828 disease phenotype-associated
VAR_058828 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058829 commonName VAR_058829
VAR_058829 disease not phenotype-associated
VAR_058830 commonName VAR_058830
VAR_058830 disease phenotype-associated
VAR_058830 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_058831 commonName VAR_058831
VAR_058831 disease not phenotype-associated
VAR_058846 commonName VAR_058846
VAR_058846 disease not phenotype-associated
VAR_058847 commonName VAR_058847
VAR_058847 disease not phenotype-associated
VAR_058848 commonName VAR_058848
VAR_058848 disease not phenotype-associated
VAR_058849 commonName VAR_058849
VAR_058849 disease not phenotype-associated
VAR_058863 commonName VAR_058863
VAR_058863 disease not phenotype-associated
VAR_058864 commonName VAR_058864
VAR_058864 disease not phenotype-associated
VAR_058865 commonName VAR_058865
VAR_058865 disease not phenotype-associated
VAR_058866 commonName VAR_058866
VAR_058866 disease not phenotype-associated
VAR_058867 commonName VAR_058867
VAR_058867 disease not phenotype-associated
VAR_058868 commonName VAR_058868
VAR_058868 disease not phenotype-associated
VAR_058869 commonName VAR_058869
VAR_058869 disease not phenotype-associated
VAR_058870 commonName VAR_058870
VAR_058870 disease phenotype-associated
VAR_058870 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058871 commonName VAR_058871
VAR_058871 disease phenotype-associated
VAR_058871 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_058872 commonName VAR_058872
VAR_058872 disease phenotype-associated
VAR_058872 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058873 commonName VAR_058873
VAR_058873 disease phenotype-associated
VAR_058873 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058875 commonName VAR_058875
VAR_058875 disease phenotype-associated
VAR_058875 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058876 commonName VAR_058876
VAR_058876 disease phenotype-associated
VAR_058876 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058877 commonName VAR_058877
VAR_058877 disease not phenotype-associated
VAR_058878 commonName VAR_058878
VAR_058878 disease phenotype-associated
VAR_058878 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_058879 commonName VAR_058879
VAR_058879 disease phenotype-associated
VAR_058879 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_058880 commonName VAR_058880
VAR_058880 disease phenotype-associated
VAR_058880 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058881 commonName VAR_058881
VAR_058881 disease phenotype-associated
VAR_058881 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058882 commonName VAR_058882
VAR_058882 disease phenotype-associated
VAR_058882 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058883 commonName VAR_058883
VAR_058883 disease phenotype-associated
VAR_058883 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_058884 commonName VAR_058884
VAR_058884 disease phenotype-associated
VAR_058884 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058885 commonName VAR_058885
VAR_058885 disease phenotype-associated
VAR_058885 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058886 commonName VAR_058886
VAR_058886 disease phenotype-associated
VAR_058886 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058887 commonName VAR_058887
VAR_058887 disease phenotype-associated
VAR_058887 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
VAR_058888 commonName VAR_058888
VAR_058888 disease phenotype-associated
VAR_058888 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058889 commonName VAR_058889
VAR_058889 disease phenotype-associated
VAR_058889 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058890 commonName VAR_058890
VAR_058890 disease phenotype-associated
VAR_058890 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058891 commonName VAR_058891
VAR_058891 disease phenotype-associated
VAR_058891 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058892 commonName VAR_058892
VAR_058892 disease phenotype-associated
VAR_058892 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058893 commonName VAR_058893
VAR_058893 disease phenotype-associated
VAR_058893 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058894 commonName VAR_058894
VAR_058894 disease phenotype-associated
VAR_058894 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058895 commonName VAR_058895
VAR_058895 disease phenotype-associated
VAR_058895 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058896 commonName VAR_058896
VAR_058896 disease phenotype-associated
VAR_058896 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058897 commonName VAR_058897
VAR_058897 disease phenotype-associated
VAR_058897 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
VAR_058898 commonName VAR_058898
VAR_058898 disease phenotype-associated
VAR_058898 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_058899 commonName VAR_058899
VAR_058899 disease phenotype-associated
VAR_058899 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058900 commonName VAR_058900
VAR_058900 disease phenotype-associated
VAR_058900 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058901 commonName VAR_058901
VAR_058902 commonName VAR_058902
VAR_058902 disease phenotype-associated
VAR_058902 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058903 commonName VAR_058903
VAR_058903 disease phenotype-associated
VAR_058903 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058904 commonName VAR_058904
VAR_058904 disease phenotype-associated
VAR_058904 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058905 commonName VAR_058905
VAR_058905 disease phenotype-associated
VAR_058905 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058906 commonName VAR_058906
VAR_058906 disease phenotype-associated
VAR_058906 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058907 commonName VAR_058907
VAR_058907 disease phenotype-associated
VAR_058907 phenoCommon Cataract posterior polar type 1 (CTPP1) [MIM:116600]
VAR_058908 commonName VAR_058908
VAR_058908 disease phenotype-associated
VAR_058908 phenoCommon Cataract posterior polar type 1 (CTPP1) [MIM:116600]
VAR_058909 commonName VAR_058909
VAR_058909 disease not phenotype-associated
VAR_058910 commonName VAR_058910
VAR_058910 disease phenotype-associated
VAR_058910 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_058925 commonName VAR_058925
VAR_058925 disease phenotype-associated
VAR_058925 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_058926 commonName VAR_058926
VAR_058926 disease phenotype-associated
VAR_058926 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_058938 commonName VAR_058938
VAR_058939 commonName VAR_058939
VAR_058939 disease not phenotype-associated
VAR_058940 commonName VAR_058940
VAR_058941 commonName VAR_058941
VAR_058942 commonName VAR_058942
VAR_058942 disease phenotype-associated
VAR_058942 phenoCommon Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]
VAR_058943 commonName VAR_058943
VAR_058943 disease not phenotype-associated
VAR_058945 commonName VAR_058945
VAR_058946 commonName VAR_058946
VAR_058947 commonName VAR_058947
VAR_058948 commonName VAR_058948
VAR_058948 disease phenotype-associated
VAR_058948 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_058949 commonName VAR_058949
VAR_058949 disease phenotype-associated
VAR_058949 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_058950 commonName VAR_058950
VAR_058950 disease phenotype-associated
VAR_058950 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_058951 commonName VAR_058951
VAR_058951 disease phenotype-associated
VAR_058951 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_058952 commonName VAR_058952
VAR_058952 disease phenotype-associated
VAR_058952 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]
VAR_058957 commonName VAR_058957
VAR_058957 disease phenotype-associated
VAR_058957 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_058958 commonName VAR_058958
VAR_058958 disease phenotype-associated
VAR_058958 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_058959 commonName VAR_058959
VAR_058959 disease phenotype-associated
VAR_058959 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_058960 commonName VAR_058960
VAR_058960 disease phenotype-associated
VAR_058960 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_058961 commonName VAR_058961
VAR_058961 disease phenotype-associated
VAR_058961 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
VAR_058963 commonName VAR_058963
VAR_058963 disease not phenotype-associated
VAR_058964 commonName VAR_058964
VAR_058964 disease not phenotype-associated
VAR_058965 commonName VAR_058965
VAR_058965 disease not phenotype-associated
VAR_058966 commonName VAR_058966
VAR_058966 disease not phenotype-associated
VAR_058968 commonName VAR_058968
VAR_058968 disease not phenotype-associated
VAR_058969 commonName VAR_058969
VAR_058969 disease not phenotype-associated
VAR_058970 commonName VAR_058970
VAR_058970 disease not phenotype-associated
VAR_058971 commonName VAR_058971
VAR_058971 disease not phenotype-associated
VAR_058972 commonName VAR_058972
VAR_058972 disease not phenotype-associated
VAR_058974 commonName VAR_058974
VAR_058974 disease not phenotype-associated
VAR_058975 commonName VAR_058975
VAR_058975 disease phenotype-associated
VAR_058975 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058976 commonName VAR_058976
VAR_058976 disease phenotype-associated
VAR_058976 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058977 commonName VAR_058977
VAR_058977 disease phenotype-associated
VAR_058977 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058978 commonName VAR_058978
VAR_058978 disease phenotype-associated
VAR_058978 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058979 commonName VAR_058979
VAR_058979 disease phenotype-associated
VAR_058979 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058980 commonName VAR_058980
VAR_058980 disease not phenotype-associated
VAR_058981 commonName VAR_058981
VAR_058981 disease phenotype-associated
VAR_058981 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058982 commonName VAR_058982
VAR_058982 disease phenotype-associated
VAR_058982 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058983 commonName VAR_058983
VAR_058984 commonName VAR_058984
VAR_058985 commonName VAR_058985
VAR_058985 disease phenotype-associated
VAR_058985 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058986 commonName VAR_058986
VAR_058986 disease phenotype-associated
VAR_058986 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058987 commonName VAR_058987
VAR_058987 disease phenotype-associated
VAR_058987 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058988 commonName VAR_058988
VAR_058988 disease phenotype-associated
VAR_058988 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_058990 commonName VAR_058990
VAR_058990 disease phenotype-associated
VAR_058990 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058991 commonName VAR_058991
VAR_058991 disease phenotype-associated
VAR_058991 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058992 commonName VAR_058992
VAR_058992 disease phenotype-associated
VAR_058992 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058993 commonName VAR_058993
VAR_058994 commonName VAR_058994
VAR_058994 disease phenotype-associated
VAR_058994 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058996 commonName VAR_058996
VAR_058996 disease phenotype-associated
VAR_058996 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058997 commonName VAR_058997
VAR_058997 disease phenotype-associated
VAR_058997 phenoCommon Hallermann-Streiff syndrome (HSS) [MIM:234100]
VAR_058998 commonName VAR_058998
VAR_058998 disease phenotype-associated
VAR_058998 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_058999 commonName VAR_058999
VAR_058999 disease phenotype-associated
VAR_058999 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059000 commonName VAR_059000
VAR_059000 disease phenotype-associated
VAR_059000 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059001 commonName VAR_059001
VAR_059001 disease phenotype-associated
VAR_059001 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059002 commonName VAR_059002
VAR_059002 disease phenotype-associated
VAR_059002 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059003 commonName VAR_059003
VAR_059003 disease phenotype-associated
VAR_059003 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059004 commonName VAR_059004
VAR_059004 disease phenotype-associated
VAR_059004 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059005 commonName VAR_059005
VAR_059005 disease phenotype-associated
VAR_059005 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059006 commonName VAR_059006
VAR_059006 disease phenotype-associated
VAR_059006 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059008 commonName VAR_059008
VAR_059008 disease phenotype-associated
VAR_059008 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059009 commonName VAR_059009
VAR_059009 disease phenotype-associated
VAR_059009 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059010 commonName VAR_059010
VAR_059010 disease phenotype-associated
VAR_059010 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]
VAR_059011 commonName VAR_059011
VAR_059012 commonName VAR_059012
VAR_059018 commonName VAR_059018
VAR_059018 disease phenotype-associated
VAR_059018 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]
VAR_059019 commonName VAR_059019
VAR_059019 disease phenotype-associated
VAR_059019 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]
VAR_059020 commonName VAR_059020
VAR_059020 disease phenotype-associated
VAR_059020 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]
VAR_059021 commonName VAR_059021
VAR_059022 commonName VAR_059022
VAR_059022 disease phenotype-associated
VAR_059022 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]
VAR_059023 commonName VAR_059023
VAR_059023 disease not phenotype-associated
VAR_059024 commonName VAR_059024
VAR_059024 disease not phenotype-associated
VAR_059025 commonName VAR_059025
VAR_059025 disease phenotype-associated
VAR_059025 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]
VAR_059026 commonName VAR_059026
VAR_059026 disease phenotype-associated
VAR_059026 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
VAR_059027 commonName VAR_059027
VAR_059027 disease phenotype-associated
VAR_059027 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
VAR_059028 commonName VAR_059028
VAR_059028 disease phenotype-associated
VAR_059028 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
VAR_059029 commonName VAR_059029
VAR_059029 disease phenotype-associated
VAR_059029 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
VAR_059031 commonName VAR_059031
VAR_059031 disease not phenotype-associated
VAR_059032 commonName VAR_059032
VAR_059032 disease phenotype-associated
VAR_059032 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_059033 commonName VAR_059033
VAR_059033 disease not phenotype-associated
VAR_059034 commonName VAR_059034
VAR_059034 disease not phenotype-associated
VAR_059035 commonName VAR_059035
VAR_059035 disease phenotype-associated
VAR_059035 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059036 commonName VAR_059036
VAR_059036 disease phenotype-associated
VAR_059036 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059037 commonName VAR_059037
VAR_059037 disease phenotype-associated
VAR_059037 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059038 commonName VAR_059038
VAR_059038 disease phenotype-associated
VAR_059038 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059039 commonName VAR_059039
VAR_059039 disease phenotype-associated
VAR_059039 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059040 commonName VAR_059040
VAR_059040 disease phenotype-associated
VAR_059040 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]
VAR_059041 commonName VAR_059041
VAR_059041 disease phenotype-associated
VAR_059041 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059042 commonName VAR_059042
VAR_059042 disease phenotype-associated
VAR_059042 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059043 commonName VAR_059043
VAR_059043 disease phenotype-associated
VAR_059043 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059044 commonName VAR_059044
VAR_059044 disease phenotype-associated
VAR_059044 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059045 commonName VAR_059045
VAR_059045 disease phenotype-associated
VAR_059045 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059046 commonName VAR_059046
VAR_059046 disease phenotype-associated
VAR_059046 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059047 commonName VAR_059047
VAR_059047 disease phenotype-associated
VAR_059047 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059048 commonName VAR_059048
VAR_059048 disease phenotype-associated
VAR_059048 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059049 commonName VAR_059049
VAR_059049 disease phenotype-associated
VAR_059049 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570]
VAR_059050 commonName VAR_059050
VAR_059050 disease phenotype-associated
VAR_059050 phenoCommon Hypotrichosis type 7 (HYPT7) [MIM:604379]
VAR_059050 phenoCommon Woolly hair autosomal recessive type 2 (ARWH2) [MIM:604379]
VAR_059051 commonName VAR_059051
VAR_059051 disease phenotype-associated
VAR_059051 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700]
VAR_059052 commonName VAR_059052
VAR_059052 disease phenotype-associated
VAR_059052 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700]
VAR_059053 commonName VAR_059053
VAR_059053 disease not phenotype-associated
VAR_059061 commonName VAR_059061
VAR_059061 disease not phenotype-associated
VAR_059062 commonName VAR_059062
VAR_059062 disease not phenotype-associated
VAR_059063 commonName VAR_059063
VAR_059063 disease not phenotype-associated
VAR_059064 commonName VAR_059064
VAR_059064 disease not phenotype-associated
VAR_059065 commonName VAR_059065
VAR_059065 disease not phenotype-associated
VAR_059066 commonName VAR_059066
VAR_059066 disease not phenotype-associated
VAR_059067 commonName VAR_059067
VAR_059067 disease not phenotype-associated
VAR_059068 commonName VAR_059068
VAR_059068 disease phenotype-associated
VAR_059068 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059069 commonName VAR_059069
VAR_059069 disease phenotype-associated
VAR_059069 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059070 commonName VAR_059070
VAR_059070 disease phenotype-associated
VAR_059070 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059071 commonName VAR_059071
VAR_059071 disease not phenotype-associated
VAR_059072 commonName VAR_059072
VAR_059072 disease phenotype-associated
VAR_059072 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059073 commonName VAR_059073
VAR_059073 disease phenotype-associated
VAR_059073 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059074 commonName VAR_059074
VAR_059074 disease phenotype-associated
VAR_059074 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438]
VAR_059075 commonName VAR_059075
VAR_059075 disease phenotype-associated
VAR_059075 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438]
VAR_059076 commonName VAR_059076
VAR_059076 disease phenotype-associated
VAR_059076 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]
VAR_059077 commonName VAR_059077
VAR_059077 disease not phenotype-associated
VAR_059078 commonName VAR_059078
VAR_059078 disease not phenotype-associated
VAR_059079 commonName VAR_059079
VAR_059079 disease not phenotype-associated
VAR_059080 commonName VAR_059080
VAR_059080 disease phenotype-associated
VAR_059080 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300]
VAR_059081 commonName VAR_059081
VAR_059081 disease not phenotype-associated
VAR_059083 commonName VAR_059083
VAR_059083 disease not phenotype-associated
VAR_059085 commonName VAR_059085
VAR_059085 disease not phenotype-associated
VAR_059086 commonName VAR_059086
VAR_059086 disease not phenotype-associated
VAR_059087 commonName VAR_059087
VAR_059087 disease not phenotype-associated
VAR_059088 commonName VAR_059088
VAR_059088 disease not phenotype-associated
VAR_059089 commonName VAR_059089
VAR_059089 disease not phenotype-associated
VAR_059090 commonName VAR_059090
VAR_059090 disease not phenotype-associated
VAR_059091 commonName VAR_059091
VAR_059091 disease not phenotype-associated
VAR_059092 commonName VAR_059092
VAR_059092 disease not phenotype-associated
VAR_059093 commonName VAR_059093
VAR_059093 disease not phenotype-associated
VAR_059094 commonName VAR_059094
VAR_059094 disease not phenotype-associated
VAR_059095 commonName VAR_059095
VAR_059095 disease not phenotype-associated
VAR_059096 commonName VAR_059096
VAR_059096 disease not phenotype-associated
VAR_059097 commonName VAR_059097
VAR_059097 disease not phenotype-associated
VAR_059098 commonName VAR_059098
VAR_059098 disease not phenotype-associated
VAR_059099 commonName VAR_059099
VAR_059099 disease not phenotype-associated
VAR_059100 commonName VAR_059100
VAR_059100 disease not phenotype-associated
VAR_059101 commonName VAR_059101
VAR_059101 disease not phenotype-associated
VAR_059102 commonName VAR_059102
VAR_059102 disease not phenotype-associated
VAR_059103 commonName VAR_059103
VAR_059103 disease not phenotype-associated
VAR_059104 commonName VAR_059104
VAR_059104 disease not phenotype-associated
VAR_059105 commonName VAR_059105
VAR_059105 disease not phenotype-associated
VAR_059106 commonName VAR_059106
VAR_059106 disease not phenotype-associated
VAR_059107 commonName VAR_059107
VAR_059107 disease not phenotype-associated
VAR_059108 commonName VAR_059108
VAR_059108 disease not phenotype-associated
VAR_059109 commonName VAR_059109
VAR_059109 disease not phenotype-associated
VAR_059110 commonName VAR_059110
VAR_059110 disease not phenotype-associated
VAR_059111 commonName VAR_059111
VAR_059111 disease not phenotype-associated
VAR_059112 commonName VAR_059112
VAR_059112 disease not phenotype-associated
VAR_059114 commonName VAR_059114
VAR_059114 disease not phenotype-associated
VAR_059115 commonName VAR_059115
VAR_059115 disease not phenotype-associated
VAR_059116 commonName VAR_059116
VAR_059116 disease not phenotype-associated
VAR_059117 commonName VAR_059117
VAR_059117 disease not phenotype-associated
VAR_059119 commonName VAR_059119
VAR_059119 disease not phenotype-associated
VAR_059120 commonName VAR_059120
VAR_059120 disease not phenotype-associated
VAR_059121 commonName VAR_059121
VAR_059121 disease not phenotype-associated
VAR_059122 commonName VAR_059122
VAR_059122 disease not phenotype-associated
VAR_059123 commonName VAR_059123
VAR_059123 disease not phenotype-associated
VAR_059124 commonName VAR_059124
VAR_059124 disease not phenotype-associated
VAR_059125 commonName VAR_059125
VAR_059125 disease not phenotype-associated
VAR_059126 commonName VAR_059126
VAR_059126 disease not phenotype-associated
VAR_059127 commonName VAR_059127
VAR_059127 disease not phenotype-associated
VAR_059128 commonName VAR_059128
VAR_059128 disease not phenotype-associated
VAR_059129 commonName VAR_059129
VAR_059129 disease not phenotype-associated
VAR_059130 commonName VAR_059130
VAR_059130 disease not phenotype-associated
VAR_059131 commonName VAR_059131
VAR_059131 disease not phenotype-associated
VAR_059132 commonName VAR_059132
VAR_059132 disease not phenotype-associated
VAR_059133 commonName VAR_059133
VAR_059133 disease not phenotype-associated
VAR_059134 commonName VAR_059134
VAR_059134 disease not phenotype-associated
VAR_059135 commonName VAR_059135
VAR_059135 disease not phenotype-associated
VAR_059136 commonName VAR_059136
VAR_059136 disease not phenotype-associated
VAR_059137 commonName VAR_059137
VAR_059137 disease not phenotype-associated
VAR_059139 commonName VAR_059139
VAR_059139 disease not phenotype-associated
VAR_059140 commonName VAR_059140
VAR_059140 disease not phenotype-associated
VAR_059141 commonName VAR_059141
VAR_059141 disease not phenotype-associated
VAR_059142 commonName VAR_059142
VAR_059142 disease not phenotype-associated
VAR_059143 commonName VAR_059143
VAR_059143 disease not phenotype-associated
VAR_059147 commonName VAR_059147
VAR_059147 disease not phenotype-associated
VAR_059148 commonName VAR_059148
VAR_059148 disease not phenotype-associated
VAR_059149 commonName VAR_059149
VAR_059149 disease not phenotype-associated
VAR_059152 commonName VAR_059152
VAR_059152 disease not phenotype-associated
VAR_059153 commonName VAR_059153
VAR_059153 disease not phenotype-associated
VAR_059154 commonName VAR_059154
VAR_059154 disease not phenotype-associated
VAR_059155 commonName VAR_059155
VAR_059155 disease not phenotype-associated
VAR_059156 commonName VAR_059156
VAR_059156 disease not phenotype-associated
VAR_059157 commonName VAR_059157
VAR_059157 disease not phenotype-associated
VAR_059158 commonName VAR_059158
VAR_059158 disease not phenotype-associated
VAR_059159 commonName VAR_059159
VAR_059159 disease not phenotype-associated
VAR_059160 commonName VAR_059160
VAR_059160 disease not phenotype-associated
VAR_059161 commonName VAR_059161
VAR_059161 disease not phenotype-associated
VAR_059162 commonName VAR_059162
VAR_059162 disease not phenotype-associated
VAR_059163 commonName VAR_059163
VAR_059163 disease not phenotype-associated
VAR_059164 commonName VAR_059164
VAR_059164 disease not phenotype-associated
VAR_059165 commonName VAR_059165
VAR_059165 disease not phenotype-associated
VAR_059166 commonName VAR_059166
VAR_059166 disease not phenotype-associated
VAR_059167 commonName VAR_059167
VAR_059167 disease not phenotype-associated
VAR_059168 commonName VAR_059168
VAR_059168 disease not phenotype-associated
VAR_059169 commonName VAR_059169
VAR_059169 disease not phenotype-associated
VAR_059170 commonName VAR_059170
VAR_059170 disease not phenotype-associated
VAR_059171 commonName VAR_059171
VAR_059171 disease not phenotype-associated
VAR_059172 commonName VAR_059172
VAR_059172 disease not phenotype-associated
VAR_059173 commonName VAR_059173
VAR_059173 disease not phenotype-associated
VAR_059174 commonName VAR_059174
VAR_059174 disease not phenotype-associated
VAR_059175 commonName VAR_059175
VAR_059175 disease not phenotype-associated
VAR_059176 commonName VAR_059176
VAR_059176 disease not phenotype-associated
VAR_059177 commonName VAR_059177
VAR_059177 disease not phenotype-associated
VAR_059178 commonName VAR_059178
VAR_059178 disease not phenotype-associated
VAR_059179 commonName VAR_059179
VAR_059179 disease not phenotype-associated
VAR_059180 commonName VAR_059180
VAR_059180 disease not phenotype-associated
VAR_059181 commonName VAR_059181
VAR_059181 disease not phenotype-associated
VAR_059182 commonName VAR_059182
VAR_059182 disease not phenotype-associated
VAR_059183 commonName VAR_059183
VAR_059183 disease not phenotype-associated
VAR_059184 commonName VAR_059184
VAR_059184 disease not phenotype-associated
VAR_059185 commonName VAR_059185
VAR_059185 disease not phenotype-associated
VAR_059186 commonName VAR_059186
VAR_059186 disease not phenotype-associated
VAR_059187 commonName VAR_059187
VAR_059187 disease not phenotype-associated
VAR_059188 commonName VAR_059188
VAR_059188 disease not phenotype-associated
VAR_059189 commonName VAR_059189
VAR_059189 disease not phenotype-associated
VAR_059190 commonName VAR_059190
VAR_059190 disease not phenotype-associated
VAR_059191 commonName VAR_059191
VAR_059191 disease not phenotype-associated
VAR_059193 commonName VAR_059193
VAR_059193 disease not phenotype-associated
VAR_059194 commonName VAR_059194
VAR_059194 disease not phenotype-associated
VAR_059195 commonName VAR_059195
VAR_059195 disease not phenotype-associated
VAR_059197 commonName VAR_059197
VAR_059197 disease not phenotype-associated
VAR_059198 commonName VAR_059198
VAR_059198 disease not phenotype-associated
VAR_059199 commonName VAR_059199
VAR_059199 disease not phenotype-associated
VAR_059200 commonName VAR_059200
VAR_059200 disease not phenotype-associated
VAR_059201 commonName VAR_059201
VAR_059201 disease not phenotype-associated
VAR_059202 commonName VAR_059202
VAR_059202 disease not phenotype-associated
VAR_059203 commonName VAR_059203
VAR_059203 disease not phenotype-associated
VAR_059204 commonName VAR_059204
VAR_059204 disease not phenotype-associated
VAR_059205 commonName VAR_059205
VAR_059205 disease not phenotype-associated
VAR_059206 commonName VAR_059206
VAR_059206 disease not phenotype-associated
VAR_059207 commonName VAR_059207
VAR_059207 disease not phenotype-associated
VAR_059208 commonName VAR_059208
VAR_059208 disease not phenotype-associated
VAR_059209 commonName VAR_059209
VAR_059209 disease not phenotype-associated
VAR_059210 commonName VAR_059210
VAR_059210 disease not phenotype-associated
VAR_059211 commonName VAR_059211
VAR_059211 disease not phenotype-associated
VAR_059212 commonName VAR_059212
VAR_059212 disease not phenotype-associated
VAR_059213 commonName VAR_059213
VAR_059213 disease not phenotype-associated
VAR_059214 commonName VAR_059214
VAR_059214 disease not phenotype-associated
VAR_059215 commonName VAR_059215
VAR_059215 disease not phenotype-associated
VAR_059216 commonName VAR_059216
VAR_059216 disease not phenotype-associated
VAR_059217 commonName VAR_059217
VAR_059217 disease not phenotype-associated
VAR_059219 commonName VAR_059219
VAR_059219 disease not phenotype-associated
VAR_059220 commonName VAR_059220
VAR_059220 disease not phenotype-associated
VAR_059221 commonName VAR_059221
VAR_059221 disease not phenotype-associated
VAR_059222 commonName VAR_059222
VAR_059222 disease not phenotype-associated
VAR_059223 commonName VAR_059223
VAR_059223 disease not phenotype-associated
VAR_059224 commonName VAR_059224
VAR_059224 disease not phenotype-associated
VAR_059225 commonName VAR_059225
VAR_059225 disease not phenotype-associated
VAR_059226 commonName VAR_059226
VAR_059226 disease not phenotype-associated
VAR_059227 commonName VAR_059227
VAR_059227 disease not phenotype-associated
VAR_059228 commonName VAR_059228
VAR_059228 disease not phenotype-associated
VAR_059229 commonName VAR_059229
VAR_059229 disease not phenotype-associated
VAR_059230 commonName VAR_059230
VAR_059230 disease not phenotype-associated
VAR_059231 commonName VAR_059231
VAR_059231 disease not phenotype-associated
VAR_059242 commonName VAR_059242
VAR_059242 disease not phenotype-associated
VAR_059243 commonName VAR_059243
VAR_059243 disease not phenotype-associated
VAR_059244 commonName VAR_059244
VAR_059244 disease not phenotype-associated
VAR_059245 commonName VAR_059245
VAR_059245 disease not phenotype-associated
VAR_059246 commonName VAR_059246
VAR_059246 disease not phenotype-associated
VAR_059247 commonName VAR_059247
VAR_059247 disease not phenotype-associated
VAR_059248 commonName VAR_059248
VAR_059248 disease not phenotype-associated
VAR_059249 commonName VAR_059249
VAR_059249 disease not phenotype-associated
VAR_059250 commonName VAR_059250
VAR_059250 disease not phenotype-associated
VAR_059251 commonName VAR_059251
VAR_059251 disease not phenotype-associated
VAR_059252 commonName VAR_059252
VAR_059252 disease not phenotype-associated
VAR_059253 commonName VAR_059253
VAR_059253 disease not phenotype-associated
VAR_059254 commonName VAR_059254
VAR_059254 disease not phenotype-associated
VAR_059255 commonName VAR_059255
VAR_059255 disease not phenotype-associated
VAR_059256 commonName VAR_059256
VAR_059256 disease not phenotype-associated
VAR_059257 commonName VAR_059257
VAR_059257 disease not phenotype-associated
VAR_059258 commonName VAR_059258
VAR_059258 disease not phenotype-associated
VAR_059259 commonName VAR_059259
VAR_059259 disease not phenotype-associated
VAR_059260 commonName VAR_059260
VAR_059260 disease not phenotype-associated
VAR_059261 commonName VAR_059261
VAR_059261 disease not phenotype-associated
VAR_059262 commonName VAR_059262
VAR_059262 disease not phenotype-associated
VAR_059263 commonName VAR_059263
VAR_059263 disease not phenotype-associated
VAR_059264 commonName VAR_059264
VAR_059264 disease not phenotype-associated
VAR_059265 commonName VAR_059265
VAR_059265 disease not phenotype-associated
VAR_059266 commonName VAR_059266
VAR_059266 disease not phenotype-associated
VAR_059267 commonName VAR_059267
VAR_059267 disease not phenotype-associated
VAR_059268 commonName VAR_059268
VAR_059268 disease not phenotype-associated
VAR_059269 commonName VAR_059269
VAR_059269 disease not phenotype-associated
VAR_059270 commonName VAR_059270
VAR_059270 disease not phenotype-associated
VAR_059275 commonName VAR_059275
VAR_059275 disease not phenotype-associated
VAR_059278 commonName VAR_059278
VAR_059278 disease not phenotype-associated
VAR_059279 commonName VAR_059279
VAR_059279 disease not phenotype-associated
VAR_059280 commonName VAR_059280
VAR_059280 disease not phenotype-associated
VAR_059281 commonName VAR_059281
VAR_059281 disease not phenotype-associated
VAR_059282 commonName VAR_059282
VAR_059282 disease not phenotype-associated
VAR_059283 commonName VAR_059283
VAR_059283 disease not phenotype-associated
VAR_059284 commonName VAR_059284
VAR_059284 disease not phenotype-associated
VAR_059285 commonName VAR_059285
VAR_059285 disease not phenotype-associated
VAR_059286 commonName VAR_059286
VAR_059286 disease not phenotype-associated
VAR_059287 commonName VAR_059287
VAR_059287 disease not phenotype-associated
VAR_059288 commonName VAR_059288
VAR_059288 disease not phenotype-associated
VAR_059289 commonName VAR_059289
VAR_059289 disease not phenotype-associated
VAR_059290 commonName VAR_059290
VAR_059290 disease not phenotype-associated
VAR_059291 commonName VAR_059291
VAR_059291 disease not phenotype-associated
VAR_059292 commonName VAR_059292
VAR_059292 disease not phenotype-associated
VAR_059293 commonName VAR_059293
VAR_059293 disease not phenotype-associated
VAR_059294 commonName VAR_059294
VAR_059294 disease not phenotype-associated
VAR_059295 commonName VAR_059295
VAR_059295 disease not phenotype-associated
VAR_059296 commonName VAR_059296
VAR_059296 disease not phenotype-associated
VAR_059297 commonName VAR_059297
VAR_059297 disease not phenotype-associated
VAR_059298 commonName VAR_059298
VAR_059298 disease not phenotype-associated
VAR_059299 commonName VAR_059299
VAR_059299 disease not phenotype-associated
VAR_059300 commonName VAR_059300
VAR_059300 disease not phenotype-associated
VAR_059301 commonName VAR_059301
VAR_059301 disease not phenotype-associated
VAR_059302 commonName VAR_059302
VAR_059302 disease not phenotype-associated
VAR_059303 commonName VAR_059303
VAR_059303 disease not phenotype-associated
VAR_059304 commonName VAR_059304
VAR_059304 disease not phenotype-associated
VAR_059305 commonName VAR_059305
VAR_059305 disease not phenotype-associated
VAR_059306 commonName VAR_059306
VAR_059306 disease not phenotype-associated
VAR_059307 commonName VAR_059307
VAR_059307 disease not phenotype-associated
VAR_059308 commonName VAR_059308
VAR_059308 disease not phenotype-associated
VAR_059309 commonName VAR_059309
VAR_059309 disease not phenotype-associated
VAR_059310 commonName VAR_059310
VAR_059310 disease not phenotype-associated
VAR_059311 commonName VAR_059311
VAR_059311 disease not phenotype-associated
VAR_059313 commonName VAR_059313
VAR_059313 disease not phenotype-associated
VAR_059314 commonName VAR_059314
VAR_059314 disease not phenotype-associated
VAR_059315 commonName VAR_059315
VAR_059315 disease not phenotype-associated
VAR_059316 commonName VAR_059316
VAR_059316 disease not phenotype-associated
VAR_059317 commonName VAR_059317
VAR_059317 disease not phenotype-associated
VAR_059318 commonName VAR_059318
VAR_059318 disease not phenotype-associated
VAR_059319 commonName VAR_059319
VAR_059319 disease not phenotype-associated
VAR_059320 commonName VAR_059320
VAR_059320 disease not phenotype-associated
VAR_059321 commonName VAR_059321
VAR_059321 disease not phenotype-associated
VAR_059322 commonName VAR_059322
VAR_059322 disease not phenotype-associated
VAR_059323 commonName VAR_059323
VAR_059323 disease not phenotype-associated
VAR_059324 commonName VAR_059324
VAR_059324 disease not phenotype-associated
VAR_059325 commonName VAR_059325
VAR_059325 disease not phenotype-associated
VAR_059326 commonName VAR_059326
VAR_059326 disease not phenotype-associated
VAR_059327 commonName VAR_059327
VAR_059327 disease not phenotype-associated
VAR_059328 commonName VAR_059328
VAR_059328 disease not phenotype-associated
VAR_059329 commonName VAR_059329
VAR_059329 disease not phenotype-associated
VAR_059330 commonName VAR_059330
VAR_059330 disease not phenotype-associated
VAR_059331 commonName VAR_059331
VAR_059331 disease not phenotype-associated
VAR_059332 commonName VAR_059332
VAR_059332 disease not phenotype-associated
VAR_059333 commonName VAR_059333
VAR_059333 disease not phenotype-associated
VAR_059334 commonName VAR_059334
VAR_059334 disease not phenotype-associated
VAR_059336 commonName VAR_059336
VAR_059336 disease not phenotype-associated
VAR_059337 commonName VAR_059337
VAR_059337 disease not phenotype-associated
VAR_059338 commonName VAR_059338
VAR_059338 disease not phenotype-associated
VAR_059339 commonName VAR_059339
VAR_059339 disease not phenotype-associated
VAR_059340 commonName VAR_059340
VAR_059340 disease not phenotype-associated
VAR_059341 commonName VAR_059341
VAR_059341 disease not phenotype-associated
VAR_059342 commonName VAR_059342
VAR_059342 disease not phenotype-associated
VAR_059343 commonName VAR_059343
VAR_059343 disease not phenotype-associated
VAR_059344 commonName VAR_059344
VAR_059344 disease not phenotype-associated
VAR_059346 commonName VAR_059346
VAR_059346 disease not phenotype-associated
VAR_059352 commonName VAR_059352
VAR_059352 disease not phenotype-associated
VAR_059353 commonName VAR_059353
VAR_059353 disease not phenotype-associated
VAR_059354 commonName VAR_059354
VAR_059354 disease not phenotype-associated
VAR_059355 commonName VAR_059355
VAR_059355 disease not phenotype-associated
VAR_059356 commonName VAR_059356
VAR_059356 disease not phenotype-associated
VAR_059357 commonName VAR_059357
VAR_059357 disease not phenotype-associated
VAR_059358 commonName VAR_059358
VAR_059358 disease not phenotype-associated
VAR_059359 commonName VAR_059359
VAR_059359 disease not phenotype-associated
VAR_059360 commonName VAR_059360
VAR_059360 disease not phenotype-associated
VAR_059361 commonName VAR_059361
VAR_059361 disease not phenotype-associated
VAR_059362 commonName VAR_059362
VAR_059362 disease not phenotype-associated
VAR_059363 commonName VAR_059363
VAR_059363 disease not phenotype-associated
VAR_059364 commonName VAR_059364
VAR_059364 disease not phenotype-associated
VAR_059365 commonName VAR_059365
VAR_059365 disease not phenotype-associated
VAR_059366 commonName VAR_059366
VAR_059366 disease not phenotype-associated
VAR_059367 commonName VAR_059367
VAR_059367 disease not phenotype-associated
VAR_059368 commonName VAR_059368
VAR_059368 disease not phenotype-associated
VAR_059369 commonName VAR_059369
VAR_059369 disease not phenotype-associated
VAR_059370 commonName VAR_059370
VAR_059370 disease not phenotype-associated
VAR_059371 commonName VAR_059371
VAR_059371 disease not phenotype-associated
VAR_059372 commonName VAR_059372
VAR_059372 disease not phenotype-associated
VAR_059373 commonName VAR_059373
VAR_059373 disease not phenotype-associated
VAR_059374 commonName VAR_059374
VAR_059374 disease not phenotype-associated
VAR_059375 commonName VAR_059375
VAR_059375 disease not phenotype-associated
VAR_059376 commonName VAR_059376
VAR_059376 disease not phenotype-associated
VAR_059377 commonName VAR_059377
VAR_059377 disease not phenotype-associated
VAR_059378 commonName VAR_059378
VAR_059378 disease not phenotype-associated
VAR_059379 commonName VAR_059379
VAR_059379 disease not phenotype-associated
VAR_059380 commonName VAR_059380
VAR_059380 disease not phenotype-associated
VAR_059381 commonName VAR_059381
VAR_059381 disease not phenotype-associated
VAR_059382 commonName VAR_059382
VAR_059382 disease not phenotype-associated
VAR_059383 commonName VAR_059383
VAR_059383 disease not phenotype-associated
VAR_059384 commonName VAR_059384
VAR_059384 disease not phenotype-associated
VAR_059385 commonName VAR_059385
VAR_059385 disease not phenotype-associated
VAR_059386 commonName VAR_059386
VAR_059386 disease not phenotype-associated
VAR_059387 commonName VAR_059387
VAR_059387 disease not phenotype-associated
VAR_059388 commonName VAR_059388
VAR_059388 disease not phenotype-associated
VAR_059389 commonName VAR_059389
VAR_059389 disease not phenotype-associated
VAR_059390 commonName VAR_059390
VAR_059390 disease not phenotype-associated
VAR_059391 commonName VAR_059391
VAR_059391 disease not phenotype-associated
VAR_059392 commonName VAR_059392
VAR_059392 disease not phenotype-associated
VAR_059393 commonName VAR_059393
VAR_059393 disease not phenotype-associated
VAR_059394 commonName VAR_059394
VAR_059394 disease not phenotype-associated
VAR_059395 commonName VAR_059395
VAR_059395 disease not phenotype-associated
VAR_059396 commonName VAR_059396
VAR_059396 disease not phenotype-associated
VAR_059397 commonName VAR_059397
VAR_059397 disease not phenotype-associated
VAR_059398 commonName VAR_059398
VAR_059398 disease not phenotype-associated
VAR_059399 commonName VAR_059399
VAR_059399 disease not phenotype-associated
VAR_059400 commonName VAR_059400
VAR_059400 disease not phenotype-associated
VAR_059406 commonName VAR_059406
VAR_059406 disease not phenotype-associated
VAR_059407 commonName VAR_059407
VAR_059407 disease not phenotype-associated
VAR_059408 commonName VAR_059408
VAR_059408 disease not phenotype-associated
VAR_059409 commonName VAR_059409
VAR_059409 disease not phenotype-associated
VAR_059410 commonName VAR_059410
VAR_059410 disease not phenotype-associated
VAR_059411 commonName VAR_059411
VAR_059411 disease not phenotype-associated
VAR_059412 commonName VAR_059412
VAR_059412 disease not phenotype-associated
VAR_059413 commonName VAR_059413
VAR_059413 disease not phenotype-associated
VAR_059414 commonName VAR_059414
VAR_059414 disease not phenotype-associated
VAR_059423 commonName VAR_059423
VAR_059423 disease not phenotype-associated
VAR_059424 commonName VAR_059424
VAR_059424 disease not phenotype-associated
VAR_059425 commonName VAR_059425
VAR_059425 disease not phenotype-associated
VAR_059428 commonName VAR_059428
VAR_059428 disease not phenotype-associated
VAR_059429 commonName VAR_059429
VAR_059429 disease not phenotype-associated
VAR_059430 commonName VAR_059430
VAR_059430 disease not phenotype-associated
VAR_059431 commonName VAR_059431
VAR_059431 disease not phenotype-associated
VAR_059432 commonName VAR_059432
VAR_059432 disease not phenotype-associated
VAR_059433 commonName VAR_059433
VAR_059433 disease not phenotype-associated
VAR_059434 commonName VAR_059434
VAR_059434 disease not phenotype-associated
VAR_059435 commonName VAR_059435
VAR_059435 disease not phenotype-associated
VAR_059436 commonName VAR_059436
VAR_059436 disease not phenotype-associated
VAR_059437 commonName VAR_059437
VAR_059437 disease not phenotype-associated
VAR_059438 commonName VAR_059438
VAR_059438 disease not phenotype-associated
VAR_059439 commonName VAR_059439
VAR_059439 disease not phenotype-associated
VAR_059440 commonName VAR_059440
VAR_059440 disease not phenotype-associated
VAR_059441 commonName VAR_059441
VAR_059441 disease not phenotype-associated
VAR_059442 commonName VAR_059442
VAR_059442 disease not phenotype-associated
VAR_059443 commonName VAR_059443
VAR_059443 disease not phenotype-associated
VAR_059444 commonName VAR_059444
VAR_059444 disease not phenotype-associated
VAR_059445 commonName VAR_059445
VAR_059445 disease not phenotype-associated
VAR_059446 commonName VAR_059446
VAR_059446 disease not phenotype-associated
VAR_059448 commonName VAR_059448
VAR_059448 disease not phenotype-associated
VAR_059449 commonName VAR_059449
VAR_059449 disease not phenotype-associated
VAR_059451 commonName VAR_059451
VAR_059451 disease not phenotype-associated
VAR_059452 commonName VAR_059452
VAR_059452 disease not phenotype-associated
VAR_059453 commonName VAR_059453
VAR_059453 disease not phenotype-associated
VAR_059454 commonName VAR_059454
VAR_059454 disease not phenotype-associated
VAR_059455 commonName VAR_059455
VAR_059455 disease not phenotype-associated
VAR_059456 commonName VAR_059456
VAR_059456 disease not phenotype-associated
VAR_059457 commonName VAR_059457
VAR_059457 disease not phenotype-associated
VAR_059458 commonName VAR_059458
VAR_059458 disease not phenotype-associated
VAR_059460 commonName VAR_059460
VAR_059460 disease not phenotype-associated
VAR_059461 commonName VAR_059461
VAR_059461 disease not phenotype-associated
VAR_059462 commonName VAR_059462
VAR_059462 disease not phenotype-associated
VAR_059463 commonName VAR_059463
VAR_059463 disease not phenotype-associated
VAR_059464 commonName VAR_059464
VAR_059464 disease not phenotype-associated
VAR_059465 commonName VAR_059465
VAR_059465 disease not phenotype-associated
VAR_059466 commonName VAR_059466
VAR_059466 disease not phenotype-associated
VAR_059528 commonName VAR_059528
VAR_059528 disease not phenotype-associated
VAR_059530 commonName VAR_059530
VAR_059530 disease not phenotype-associated
VAR_059538 commonName VAR_059538
VAR_059538 disease not phenotype-associated
VAR_059539 commonName VAR_059539
VAR_059539 disease not phenotype-associated
VAR_059540 commonName VAR_059540
VAR_059540 disease not phenotype-associated
VAR_059541 commonName VAR_059541
VAR_059541 disease not phenotype-associated
VAR_059542 commonName VAR_059542
VAR_059542 disease not phenotype-associated
VAR_059543 commonName VAR_059543
VAR_059543 disease not phenotype-associated
VAR_059544 commonName VAR_059544
VAR_059544 disease not phenotype-associated
VAR_059545 commonName VAR_059545
VAR_059545 disease not phenotype-associated
VAR_059546 commonName VAR_059546
VAR_059546 disease not phenotype-associated
VAR_059547 commonName VAR_059547
VAR_059547 disease not phenotype-associated
VAR_059548 commonName VAR_059548
VAR_059548 disease not phenotype-associated
VAR_059550 commonName VAR_059550
VAR_059550 disease not phenotype-associated
VAR_059551 commonName VAR_059551
VAR_059551 disease not phenotype-associated
VAR_059552 commonName VAR_059552
VAR_059552 disease not phenotype-associated
VAR_059553 commonName VAR_059553
VAR_059553 disease not phenotype-associated
VAR_059554 commonName VAR_059554
VAR_059554 disease not phenotype-associated
VAR_059555 commonName VAR_059555
VAR_059555 disease not phenotype-associated
VAR_059556 commonName VAR_059556
VAR_059556 disease not phenotype-associated
VAR_059557 commonName VAR_059557
VAR_059557 disease not phenotype-associated
VAR_059558 commonName VAR_059558
VAR_059558 disease not phenotype-associated
VAR_059560 commonName VAR_059560
VAR_059560 disease not phenotype-associated
VAR_059561 commonName VAR_059561
VAR_059561 disease not phenotype-associated
VAR_059562 commonName VAR_059562
VAR_059562 disease not phenotype-associated
VAR_059563 commonName VAR_059563
VAR_059563 disease not phenotype-associated
VAR_059564 commonName VAR_059564
VAR_059564 disease not phenotype-associated
VAR_059565 commonName VAR_059565
VAR_059565 disease not phenotype-associated
VAR_059566 commonName VAR_059566
VAR_059566 disease not phenotype-associated
VAR_059567 commonName VAR_059567
VAR_059567 disease not phenotype-associated
VAR_059568 commonName VAR_059568
VAR_059568 disease not phenotype-associated
VAR_059569 commonName VAR_059569
VAR_059569 disease not phenotype-associated
VAR_059570 commonName VAR_059570
VAR_059570 disease not phenotype-associated
VAR_059571 commonName VAR_059571
VAR_059571 disease not phenotype-associated
VAR_059572 commonName VAR_059572
VAR_059572 disease not phenotype-associated
VAR_059573 commonName VAR_059573
VAR_059573 disease not phenotype-associated
VAR_059574 commonName VAR_059574
VAR_059574 disease not phenotype-associated
VAR_059575 commonName VAR_059575
VAR_059575 disease not phenotype-associated
VAR_059576 commonName VAR_059576
VAR_059576 disease not phenotype-associated
VAR_059577 commonName VAR_059577
VAR_059577 disease not phenotype-associated
VAR_059578 commonName VAR_059578
VAR_059578 disease not phenotype-associated
VAR_059579 commonName VAR_059579
VAR_059579 disease not phenotype-associated
VAR_059580 commonName VAR_059580
VAR_059580 disease not phenotype-associated
VAR_059581 commonName VAR_059581
VAR_059581 disease not phenotype-associated
VAR_059583 commonName VAR_059583
VAR_059583 disease not phenotype-associated
VAR_059585 commonName VAR_059585
VAR_059585 disease not phenotype-associated
VAR_059586 commonName VAR_059586
VAR_059586 disease not phenotype-associated
VAR_059589 commonName VAR_059589
VAR_059589 disease not phenotype-associated
VAR_059591 commonName VAR_059591
VAR_059591 disease not phenotype-associated
VAR_059592 commonName VAR_059592
VAR_059592 disease not phenotype-associated
VAR_059593 commonName VAR_059593
VAR_059593 disease not phenotype-associated
VAR_059594 commonName VAR_059594
VAR_059594 disease not phenotype-associated
VAR_059596 commonName VAR_059596
VAR_059596 disease not phenotype-associated
VAR_059597 commonName VAR_059597
VAR_059597 disease not phenotype-associated
VAR_059598 commonName VAR_059598
VAR_059598 disease not phenotype-associated
VAR_059600 commonName VAR_059600
VAR_059600 disease not phenotype-associated
VAR_059601 commonName VAR_059601
VAR_059601 disease not phenotype-associated
VAR_059602 commonName VAR_059602
VAR_059602 disease not phenotype-associated
VAR_059603 commonName VAR_059603
VAR_059603 disease not phenotype-associated
VAR_059605 commonName VAR_059605
VAR_059605 disease not phenotype-associated
VAR_059606 commonName VAR_059606
VAR_059606 disease not phenotype-associated
VAR_059607 commonName VAR_059607
VAR_059607 disease not phenotype-associated
VAR_059608 commonName VAR_059608
VAR_059608 disease not phenotype-associated
VAR_059609 commonName VAR_059609
VAR_059609 disease not phenotype-associated
VAR_059610 commonName VAR_059610
VAR_059610 disease not phenotype-associated
VAR_059611 commonName VAR_059611
VAR_059611 disease not phenotype-associated
VAR_059612 commonName VAR_059612
VAR_059612 disease not phenotype-associated
VAR_059613 commonName VAR_059613
VAR_059613 disease not phenotype-associated
VAR_059614 commonName VAR_059614
VAR_059614 disease not phenotype-associated
VAR_059615 commonName VAR_059615
VAR_059615 disease not phenotype-associated
VAR_059617 commonName VAR_059617
VAR_059617 disease not phenotype-associated
VAR_059618 commonName VAR_059618
VAR_059618 disease not phenotype-associated
VAR_059619 commonName VAR_059619
VAR_059619 disease not phenotype-associated
VAR_059620 commonName VAR_059620
VAR_059620 disease not phenotype-associated
VAR_059621 commonName VAR_059621
VAR_059621 disease not phenotype-associated
VAR_059622 commonName VAR_059622
VAR_059622 disease not phenotype-associated
VAR_059623 commonName VAR_059623
VAR_059623 disease not phenotype-associated
VAR_059624 commonName VAR_059624
VAR_059624 disease not phenotype-associated
VAR_059625 commonName VAR_059625
VAR_059625 disease not phenotype-associated
VAR_059626 commonName VAR_059626
VAR_059626 disease not phenotype-associated
VAR_059627 commonName VAR_059627
VAR_059627 disease not phenotype-associated
VAR_059628 commonName VAR_059628
VAR_059628 disease not phenotype-associated
VAR_059629 commonName VAR_059629
VAR_059629 disease not phenotype-associated
VAR_059630 commonName VAR_059630
VAR_059630 disease not phenotype-associated
VAR_059631 commonName VAR_059631
VAR_059631 disease not phenotype-associated
VAR_059632 commonName VAR_059632
VAR_059632 disease not phenotype-associated
VAR_059637 commonName VAR_059637
VAR_059637 disease not phenotype-associated
VAR_059639 commonName VAR_059639
VAR_059639 disease not phenotype-associated
VAR_059641 commonName VAR_059641
VAR_059641 disease not phenotype-associated
VAR_059642 commonName VAR_059642
VAR_059642 disease not phenotype-associated
VAR_059643 commonName VAR_059643
VAR_059643 disease not phenotype-associated
VAR_059644 commonName VAR_059644
VAR_059644 disease not phenotype-associated
VAR_059645 commonName VAR_059645
VAR_059645 disease not phenotype-associated
VAR_059646 commonName VAR_059646
VAR_059646 disease not phenotype-associated
VAR_059647 commonName VAR_059647
VAR_059647 disease not phenotype-associated
VAR_059648 commonName VAR_059648
VAR_059648 disease not phenotype-associated
VAR_059649 commonName VAR_059649
VAR_059649 disease not phenotype-associated
VAR_059650 commonName VAR_059650
VAR_059650 disease not phenotype-associated
VAR_059651 commonName VAR_059651
VAR_059651 disease not phenotype-associated
VAR_059652 commonName VAR_059652
VAR_059652 disease not phenotype-associated
VAR_059653 commonName VAR_059653
VAR_059653 disease not phenotype-associated
VAR_059654 commonName VAR_059654
VAR_059654 disease not phenotype-associated
VAR_059655 commonName VAR_059655
VAR_059655 disease not phenotype-associated
VAR_059656 commonName VAR_059656
VAR_059656 disease not phenotype-associated
VAR_059657 commonName VAR_059657
VAR_059657 disease not phenotype-associated
VAR_059658 commonName VAR_059658
VAR_059658 disease not phenotype-associated
VAR_059659 commonName VAR_059659
VAR_059659 disease not phenotype-associated
VAR_059660 commonName VAR_059660
VAR_059660 disease not phenotype-associated
VAR_059661 commonName VAR_059661
VAR_059661 disease not phenotype-associated
VAR_059662 commonName VAR_059662
VAR_059662 disease not phenotype-associated
VAR_059663 commonName VAR_059663
VAR_059663 disease not phenotype-associated
VAR_059664 commonName VAR_059664
VAR_059664 disease not phenotype-associated
VAR_059665 commonName VAR_059665
VAR_059665 disease not phenotype-associated
VAR_059666 commonName VAR_059666
VAR_059666 disease not phenotype-associated
VAR_059688 commonName VAR_059688
VAR_059688 disease not phenotype-associated
VAR_059689 commonName VAR_059689
VAR_059689 disease not phenotype-associated
VAR_059690 commonName VAR_059690
VAR_059690 disease not phenotype-associated
VAR_059691 commonName VAR_059691
VAR_059691 disease not phenotype-associated
VAR_059692 commonName VAR_059692
VAR_059692 disease not phenotype-associated
VAR_059693 commonName VAR_059693
VAR_059693 disease not phenotype-associated
VAR_059694 commonName VAR_059694
VAR_059694 disease not phenotype-associated
VAR_059695 commonName VAR_059695
VAR_059695 disease not phenotype-associated
VAR_059696 commonName VAR_059696
VAR_059696 disease not phenotype-associated
VAR_059697 commonName VAR_059697
VAR_059697 disease not phenotype-associated
VAR_059698 commonName VAR_059698
VAR_059698 disease not phenotype-associated
VAR_059699 commonName VAR_059699
VAR_059699 disease not phenotype-associated
VAR_059700 commonName VAR_059700
VAR_059700 disease not phenotype-associated
VAR_059701 commonName VAR_059701
VAR_059701 disease not phenotype-associated
VAR_059702 commonName VAR_059702
VAR_059702 disease not phenotype-associated
VAR_059703 commonName VAR_059703
VAR_059703 disease not phenotype-associated
VAR_059704 commonName VAR_059704
VAR_059704 disease not phenotype-associated
VAR_059705 commonName VAR_059705
VAR_059705 disease not phenotype-associated
VAR_059706 commonName VAR_059706
VAR_059706 disease not phenotype-associated
VAR_059707 commonName VAR_059707
VAR_059707 disease not phenotype-associated
VAR_059708 commonName VAR_059708
VAR_059708 disease not phenotype-associated
VAR_059709 commonName VAR_059709
VAR_059709 disease not phenotype-associated
VAR_059710 commonName VAR_059710
VAR_059710 disease not phenotype-associated
VAR_059711 commonName VAR_059711
VAR_059711 disease not phenotype-associated
VAR_059712 commonName VAR_059712
VAR_059712 disease not phenotype-associated
VAR_059713 commonName VAR_059713
VAR_059713 disease not phenotype-associated
VAR_059714 commonName VAR_059714
VAR_059714 disease not phenotype-associated
VAR_059716 commonName VAR_059716
VAR_059716 disease not phenotype-associated
VAR_059717 commonName VAR_059717
VAR_059717 disease not phenotype-associated
VAR_059718 commonName VAR_059718
VAR_059718 disease not phenotype-associated
VAR_059719 commonName VAR_059719
VAR_059719 disease not phenotype-associated
VAR_059720 commonName VAR_059720
VAR_059720 disease not phenotype-associated
VAR_059721 commonName VAR_059721
VAR_059721 disease not phenotype-associated
VAR_059722 commonName VAR_059722
VAR_059722 disease not phenotype-associated
VAR_059725 commonName VAR_059725
VAR_059725 disease not phenotype-associated
VAR_059726 commonName VAR_059726
VAR_059726 disease not phenotype-associated
VAR_059727 commonName VAR_059727
VAR_059727 disease not phenotype-associated
VAR_059728 commonName VAR_059728
VAR_059728 disease not phenotype-associated
VAR_059729 commonName VAR_059729
VAR_059729 disease not phenotype-associated
VAR_059730 commonName VAR_059730
VAR_059730 disease not phenotype-associated
VAR_059731 commonName VAR_059731
VAR_059731 disease not phenotype-associated
VAR_059732 commonName VAR_059732
VAR_059732 disease not phenotype-associated
VAR_059733 commonName VAR_059733
VAR_059733 disease not phenotype-associated
VAR_059734 commonName VAR_059734
VAR_059734 disease not phenotype-associated
VAR_059735 commonName VAR_059735
VAR_059735 disease not phenotype-associated
VAR_059736 commonName VAR_059736
VAR_059736 disease not phenotype-associated
VAR_059737 commonName VAR_059737
VAR_059737 disease not phenotype-associated
VAR_059738 commonName VAR_059738
VAR_059738 disease not phenotype-associated
VAR_059739 commonName VAR_059739
VAR_059739 disease not phenotype-associated
VAR_059740 commonName VAR_059740
VAR_059740 disease not phenotype-associated
VAR_059741 commonName VAR_059741
VAR_059741 disease not phenotype-associated
VAR_059742 commonName VAR_059742
VAR_059742 disease not phenotype-associated
VAR_059743 commonName VAR_059743
VAR_059743 disease not phenotype-associated
VAR_059744 commonName VAR_059744
VAR_059744 disease not phenotype-associated
VAR_059745 commonName VAR_059745
VAR_059745 disease not phenotype-associated
VAR_059746 commonName VAR_059746
VAR_059746 disease not phenotype-associated
VAR_059747 commonName VAR_059747
VAR_059747 disease not phenotype-associated
VAR_059748 commonName VAR_059748
VAR_059748 disease not phenotype-associated
VAR_059749 commonName VAR_059749
VAR_059749 disease not phenotype-associated
VAR_059750 commonName VAR_059750
VAR_059750 disease not phenotype-associated
VAR_059751 commonName VAR_059751
VAR_059751 disease not phenotype-associated
VAR_059752 commonName VAR_059752
VAR_059752 disease not phenotype-associated
VAR_059754 commonName VAR_059754
VAR_059754 disease not phenotype-associated
VAR_059756 commonName VAR_059756
VAR_059756 disease not phenotype-associated
VAR_059757 commonName VAR_059757
VAR_059757 disease not phenotype-associated
VAR_059758 commonName VAR_059758
VAR_059758 disease not phenotype-associated
VAR_059761 commonName VAR_059761
VAR_059761 disease not phenotype-associated
VAR_059762 commonName VAR_059762
VAR_059762 disease not phenotype-associated
VAR_059763 commonName VAR_059763
VAR_059763 disease not phenotype-associated
VAR_059764 commonName VAR_059764
VAR_059764 disease not phenotype-associated
VAR_059765 commonName VAR_059765
VAR_059765 disease not phenotype-associated
VAR_059766 commonName VAR_059766
VAR_059766 disease not phenotype-associated
VAR_059767 commonName VAR_059767
VAR_059767 disease not phenotype-associated
VAR_059769 commonName VAR_059769
VAR_059769 disease not phenotype-associated
VAR_059770 commonName VAR_059770
VAR_059770 disease not phenotype-associated
VAR_059773 commonName VAR_059773
VAR_059773 disease not phenotype-associated
VAR_059774 commonName VAR_059774
VAR_059774 disease not phenotype-associated
VAR_059775 commonName VAR_059775
VAR_059775 disease not phenotype-associated
VAR_059777 commonName VAR_059777
VAR_059777 disease not phenotype-associated
VAR_059778 commonName VAR_059778
VAR_059778 disease not phenotype-associated
VAR_059779 commonName VAR_059779
VAR_059779 disease not phenotype-associated
VAR_059780 commonName VAR_059780
VAR_059780 disease not phenotype-associated
VAR_059781 commonName VAR_059781
VAR_059781 disease not phenotype-associated
VAR_059782 commonName VAR_059782
VAR_059782 disease not phenotype-associated
VAR_059783 commonName VAR_059783
VAR_059783 disease not phenotype-associated
VAR_059784 commonName VAR_059784
VAR_059784 disease not phenotype-associated
VAR_059785 commonName VAR_059785
VAR_059785 disease not phenotype-associated
VAR_059787 commonName VAR_059787
VAR_059787 disease not phenotype-associated
VAR_059789 commonName VAR_059789
VAR_059789 disease not phenotype-associated
VAR_059790 commonName VAR_059790
VAR_059790 disease not phenotype-associated
VAR_059791 commonName VAR_059791
VAR_059791 disease not phenotype-associated
VAR_059792 commonName VAR_059792
VAR_059792 disease not phenotype-associated
VAR_059796 commonName VAR_059796
VAR_059796 disease not phenotype-associated
VAR_059797 commonName VAR_059797
VAR_059797 disease not phenotype-associated
VAR_059798 commonName VAR_059798
VAR_059798 disease not phenotype-associated
VAR_059799 commonName VAR_059799
VAR_059799 disease not phenotype-associated
VAR_059800 commonName VAR_059800
VAR_059800 disease not phenotype-associated
VAR_059801 commonName VAR_059801
VAR_059801 disease not phenotype-associated
VAR_059802 commonName VAR_059802
VAR_059802 disease not phenotype-associated
VAR_059803 commonName VAR_059803
VAR_059803 disease not phenotype-associated
VAR_059804 commonName VAR_059804
VAR_059804 disease not phenotype-associated
VAR_059805 commonName VAR_059805
VAR_059805 disease not phenotype-associated
VAR_059806 commonName VAR_059806
VAR_059806 disease not phenotype-associated
VAR_059808 commonName VAR_059808
VAR_059808 disease not phenotype-associated
VAR_059809 commonName VAR_059809
VAR_059809 disease not phenotype-associated
VAR_059811 commonName VAR_059811
VAR_059811 disease not phenotype-associated
VAR_059812 commonName VAR_059812
VAR_059812 disease not phenotype-associated
VAR_059813 commonName VAR_059813
VAR_059813 disease not phenotype-associated
VAR_059814 commonName VAR_059814
VAR_059814 disease not phenotype-associated
VAR_059815 commonName VAR_059815
VAR_059815 disease not phenotype-associated
VAR_059816 commonName VAR_059816
VAR_059816 disease not phenotype-associated
VAR_059817 commonName VAR_059817
VAR_059817 disease not phenotype-associated
VAR_059818 commonName VAR_059818
VAR_059818 disease not phenotype-associated
VAR_059819 commonName VAR_059819
VAR_059819 disease not phenotype-associated
VAR_059820 commonName VAR_059820
VAR_059820 disease not phenotype-associated
VAR_059821 commonName VAR_059821
VAR_059821 disease not phenotype-associated
VAR_059822 commonName VAR_059822
VAR_059822 disease not phenotype-associated
VAR_059824 commonName VAR_059824
VAR_059824 disease not phenotype-associated
VAR_059826 commonName VAR_059826
VAR_059826 disease not phenotype-associated
VAR_059827 commonName VAR_059827
VAR_059827 disease not phenotype-associated
VAR_059828 commonName VAR_059828
VAR_059828 disease not phenotype-associated
VAR_059829 commonName VAR_059829
VAR_059829 disease not phenotype-associated
VAR_059830 commonName VAR_059830
VAR_059830 disease not phenotype-associated
VAR_059831 commonName VAR_059831
VAR_059831 disease not phenotype-associated
VAR_059832 commonName VAR_059832
VAR_059832 disease not phenotype-associated
VAR_059833 commonName VAR_059833
VAR_059833 disease not phenotype-associated
VAR_059834 commonName VAR_059834
VAR_059834 disease not phenotype-associated
VAR_059835 commonName VAR_059835
VAR_059835 disease not phenotype-associated
VAR_059836 commonName VAR_059836
VAR_059836 disease not phenotype-associated
VAR_059837 commonName VAR_059837
VAR_059837 disease not phenotype-associated
VAR_059838 commonName VAR_059838
VAR_059838 disease not phenotype-associated
VAR_059840 commonName VAR_059840
VAR_059840 disease not phenotype-associated
VAR_059841 commonName VAR_059841
VAR_059841 disease not phenotype-associated
VAR_059843 commonName VAR_059843
VAR_059843 disease not phenotype-associated
VAR_059844 commonName VAR_059844
VAR_059844 disease not phenotype-associated
VAR_059845 commonName VAR_059845
VAR_059845 disease not phenotype-associated
VAR_059846 commonName VAR_059846
VAR_059846 disease not phenotype-associated
VAR_059847 commonName VAR_059847
VAR_059847 disease not phenotype-associated
VAR_059848 commonName VAR_059848
VAR_059848 disease not phenotype-associated
VAR_059849 commonName VAR_059849
VAR_059849 disease not phenotype-associated
VAR_059850 commonName VAR_059850
VAR_059850 disease not phenotype-associated
VAR_059852 commonName VAR_059852
VAR_059852 disease not phenotype-associated
VAR_059853 commonName VAR_059853
VAR_059853 disease not phenotype-associated
VAR_059855 commonName VAR_059855
VAR_059855 disease not phenotype-associated
VAR_059856 commonName VAR_059856
VAR_059856 disease not phenotype-associated
VAR_059858 commonName VAR_059858
VAR_059858 disease not phenotype-associated
VAR_059859 commonName VAR_059859
VAR_059859 disease not phenotype-associated
VAR_059860 commonName VAR_059860
VAR_059860 disease not phenotype-associated
VAR_059861 commonName VAR_059861
VAR_059861 disease not phenotype-associated
VAR_059862 commonName VAR_059862
VAR_059862 disease not phenotype-associated
VAR_059863 commonName VAR_059863
VAR_059863 disease not phenotype-associated
VAR_059864 commonName VAR_059864
VAR_059864 disease not phenotype-associated
VAR_059865 commonName VAR_059865
VAR_059865 disease not phenotype-associated
VAR_059866 commonName VAR_059866
VAR_059866 disease not phenotype-associated
VAR_059867 commonName VAR_059867
VAR_059867 disease not phenotype-associated
VAR_059868 commonName VAR_059868
VAR_059868 disease not phenotype-associated
VAR_059869 commonName VAR_059869
VAR_059869 disease not phenotype-associated
VAR_059870 commonName VAR_059870
VAR_059870 disease not phenotype-associated
VAR_059871 commonName VAR_059871
VAR_059871 disease not phenotype-associated
VAR_059872 commonName VAR_059872
VAR_059872 disease not phenotype-associated
VAR_059873 commonName VAR_059873
VAR_059873 disease not phenotype-associated
VAR_059874 commonName VAR_059874
VAR_059874 disease not phenotype-associated
VAR_059875 commonName VAR_059875
VAR_059875 disease not phenotype-associated
VAR_059876 commonName VAR_059876
VAR_059876 disease not phenotype-associated
VAR_059877 commonName VAR_059877
VAR_059877 disease not phenotype-associated
VAR_059878 commonName VAR_059878
VAR_059878 disease not phenotype-associated
VAR_059879 commonName VAR_059879
VAR_059879 disease not phenotype-associated
VAR_059880 commonName VAR_059880
VAR_059880 disease not phenotype-associated
VAR_059881 commonName VAR_059881
VAR_059881 disease not phenotype-associated
VAR_059883 commonName VAR_059883
VAR_059883 disease not phenotype-associated
VAR_059884 commonName VAR_059884
VAR_059884 disease not phenotype-associated
VAR_059885 commonName VAR_059885
VAR_059885 disease not phenotype-associated
VAR_059886 commonName VAR_059886
VAR_059886 disease not phenotype-associated
VAR_059887 commonName VAR_059887
VAR_059887 disease not phenotype-associated
VAR_059888 commonName VAR_059888
VAR_059888 disease not phenotype-associated
VAR_059889 commonName VAR_059889
VAR_059889 disease not phenotype-associated
VAR_059890 commonName VAR_059890
VAR_059890 disease not phenotype-associated
VAR_059891 commonName VAR_059891
VAR_059891 disease not phenotype-associated
VAR_059892 commonName VAR_059892
VAR_059892 disease not phenotype-associated
VAR_059893 commonName VAR_059893
VAR_059893 disease not phenotype-associated
VAR_059894 commonName VAR_059894
VAR_059894 disease not phenotype-associated
VAR_059895 commonName VAR_059895
VAR_059895 disease not phenotype-associated
VAR_059896 commonName VAR_059896
VAR_059896 disease not phenotype-associated
VAR_059897 commonName VAR_059897
VAR_059897 disease not phenotype-associated
VAR_059898 commonName VAR_059898
VAR_059898 disease not phenotype-associated
VAR_059899 commonName VAR_059899
VAR_059899 disease not phenotype-associated
VAR_059900 commonName VAR_059900
VAR_059900 disease not phenotype-associated
VAR_059901 commonName VAR_059901
VAR_059901 disease not phenotype-associated
VAR_059902 commonName VAR_059902
VAR_059902 disease not phenotype-associated
VAR_059906 commonName VAR_059906
VAR_059906 disease not phenotype-associated
VAR_059907 commonName VAR_059907
VAR_059907 disease not phenotype-associated
VAR_059908 commonName VAR_059908
VAR_059908 disease not phenotype-associated
VAR_059909 commonName VAR_059909
VAR_059909 disease not phenotype-associated
VAR_059911 commonName VAR_059911
VAR_059911 disease not phenotype-associated
VAR_059913 commonName VAR_059913
VAR_059913 disease not phenotype-associated
VAR_059914 commonName VAR_059914
VAR_059914 disease not phenotype-associated
VAR_059915 commonName VAR_059915
VAR_059915 disease not phenotype-associated
VAR_059916 commonName VAR_059916
VAR_059916 disease not phenotype-associated
VAR_059917 commonName VAR_059917
VAR_059917 disease not phenotype-associated
VAR_059918 commonName VAR_059918
VAR_059918 disease not phenotype-associated
VAR_059919 commonName VAR_059919
VAR_059919 disease not phenotype-associated
VAR_059920 commonName VAR_059920
VAR_059920 disease not phenotype-associated
VAR_059921 commonName VAR_059921
VAR_059921 disease not phenotype-associated
VAR_059922 commonName VAR_059922
VAR_059922 disease not phenotype-associated
VAR_059923 commonName VAR_059923
VAR_059923 disease not phenotype-associated
VAR_059924 commonName VAR_059924
VAR_059924 disease not phenotype-associated
VAR_059925 commonName VAR_059925
VAR_059925 disease not phenotype-associated
VAR_059926 commonName VAR_059926
VAR_059926 disease not phenotype-associated
VAR_059927 commonName VAR_059927
VAR_059927 disease not phenotype-associated
VAR_059928 commonName VAR_059928
VAR_059928 disease not phenotype-associated
VAR_059929 commonName VAR_059929
VAR_059929 disease not phenotype-associated
VAR_059930 commonName VAR_059930
VAR_059930 disease not phenotype-associated
VAR_059931 commonName VAR_059931
VAR_059931 disease not phenotype-associated
VAR_059933 commonName VAR_059933
VAR_059933 disease not phenotype-associated
VAR_059934 commonName VAR_059934
VAR_059934 disease not phenotype-associated
VAR_059935 commonName VAR_059935
VAR_059935 disease not phenotype-associated
VAR_059936 commonName VAR_059936
VAR_059936 disease not phenotype-associated
VAR_059937 commonName VAR_059937
VAR_059937 disease not phenotype-associated
VAR_059938 commonName VAR_059938
VAR_059938 disease not phenotype-associated
VAR_059941 commonName VAR_059941
VAR_059941 disease not phenotype-associated
VAR_059942 commonName VAR_059942
VAR_059942 disease not phenotype-associated
VAR_059943 commonName VAR_059943
VAR_059943 disease not phenotype-associated
VAR_059944 commonName VAR_059944
VAR_059944 disease not phenotype-associated
VAR_059945 commonName VAR_059945
VAR_059945 disease not phenotype-associated
VAR_059946 commonName VAR_059946
VAR_059946 disease not phenotype-associated
VAR_059949 commonName VAR_059949
VAR_059949 disease not phenotype-associated
VAR_059950 commonName VAR_059950
VAR_059950 disease not phenotype-associated
VAR_059951 commonName VAR_059951
VAR_059951 disease not phenotype-associated
VAR_059952 commonName VAR_059952
VAR_059952 disease not phenotype-associated
VAR_059953 commonName VAR_059953
VAR_059953 disease not phenotype-associated
VAR_059956 commonName VAR_059956
VAR_059956 disease not phenotype-associated
VAR_059957 commonName VAR_059957
VAR_059957 disease not phenotype-associated
VAR_059959 commonName VAR_059959
VAR_059959 disease not phenotype-associated
VAR_059960 commonName VAR_059960
VAR_059960 disease not phenotype-associated
VAR_059961 commonName VAR_059961
VAR_059961 disease not phenotype-associated
VAR_059962 commonName VAR_059962
VAR_059962 disease not phenotype-associated
VAR_059963 commonName VAR_059963
VAR_059963 disease not phenotype-associated
VAR_059964 commonName VAR_059964
VAR_059964 disease not phenotype-associated
VAR_059965 commonName VAR_059965
VAR_059965 disease not phenotype-associated
VAR_059969 commonName VAR_059969
VAR_059969 disease not phenotype-associated
VAR_059970 commonName VAR_059970
VAR_059970 disease not phenotype-associated
VAR_059971 commonName VAR_059971
VAR_059971 disease not phenotype-associated
VAR_059972 commonName VAR_059972
VAR_059972 disease not phenotype-associated
VAR_059973 commonName VAR_059973
VAR_059973 disease not phenotype-associated
VAR_059975 commonName VAR_059975
VAR_059975 disease not phenotype-associated
VAR_059976 commonName VAR_059976
VAR_059976 disease not phenotype-associated
VAR_059978 commonName VAR_059978
VAR_059978 disease not phenotype-associated
VAR_059979 commonName VAR_059979
VAR_059979 disease not phenotype-associated
VAR_059980 commonName VAR_059980
VAR_059980 disease not phenotype-associated
VAR_059981 commonName VAR_059981
VAR_059981 disease not phenotype-associated
VAR_059982 commonName VAR_059982
VAR_059982 disease not phenotype-associated
VAR_059983 commonName VAR_059983
VAR_059983 disease not phenotype-associated
VAR_059984 commonName VAR_059984
VAR_059984 disease not phenotype-associated
VAR_059985 commonName VAR_059985
VAR_059985 disease not phenotype-associated
VAR_059986 commonName VAR_059986
VAR_059986 disease not phenotype-associated
VAR_059987 commonName VAR_059987
VAR_059987 disease not phenotype-associated
VAR_059988 commonName VAR_059988
VAR_059988 disease not phenotype-associated
VAR_059989 commonName VAR_059989
VAR_059989 disease not phenotype-associated
VAR_059990 commonName VAR_059990
VAR_059990 disease not phenotype-associated
VAR_059991 commonName VAR_059991
VAR_059991 disease not phenotype-associated
VAR_059992 commonName VAR_059992
VAR_059992 disease not phenotype-associated
VAR_059993 commonName VAR_059993
VAR_059993 disease not phenotype-associated
VAR_059994 commonName VAR_059994
VAR_059994 disease not phenotype-associated
VAR_059995 commonName VAR_059995
VAR_059995 disease not phenotype-associated
VAR_059996 commonName VAR_059996
VAR_059996 disease not phenotype-associated
VAR_059997 commonName VAR_059997
VAR_059997 disease not phenotype-associated
VAR_059998 commonName VAR_059998
VAR_059998 disease not phenotype-associated
VAR_059999 commonName VAR_059999
VAR_059999 disease not phenotype-associated
VAR_060000 commonName VAR_060000
VAR_060000 disease not phenotype-associated
VAR_060001 commonName VAR_060001
VAR_060001 disease not phenotype-associated
VAR_060002 commonName VAR_060002
VAR_060002 disease not phenotype-associated
VAR_060003 commonName VAR_060003
VAR_060003 disease not phenotype-associated
VAR_060004 commonName VAR_060004
VAR_060004 disease not phenotype-associated
VAR_060005 commonName VAR_060005
VAR_060005 disease not phenotype-associated
VAR_060006 commonName VAR_060006
VAR_060006 disease not phenotype-associated
VAR_060007 commonName VAR_060007
VAR_060007 disease not phenotype-associated
VAR_060008 commonName VAR_060008
VAR_060008 disease not phenotype-associated
VAR_060009 commonName VAR_060009
VAR_060009 disease not phenotype-associated
VAR_060010 commonName VAR_060010
VAR_060010 disease not phenotype-associated
VAR_060011 commonName VAR_060011
VAR_060011 disease not phenotype-associated
VAR_060012 commonName VAR_060012
VAR_060012 disease not phenotype-associated
VAR_060013 commonName VAR_060013
VAR_060013 disease not phenotype-associated
VAR_060022 commonName VAR_060022
VAR_060022 disease not phenotype-associated
VAR_060023 commonName VAR_060023
VAR_060023 disease not phenotype-associated
VAR_060025 commonName VAR_060025
VAR_060025 disease not phenotype-associated
VAR_060026 commonName VAR_060026
VAR_060026 disease not phenotype-associated
VAR_060027 commonName VAR_060027
VAR_060027 disease not phenotype-associated
VAR_060028 commonName VAR_060028
VAR_060028 disease not phenotype-associated
VAR_060029 commonName VAR_060029
VAR_060029 disease not phenotype-associated
VAR_060030 commonName VAR_060030
VAR_060030 disease not phenotype-associated
VAR_060031 commonName VAR_060031
VAR_060031 disease not phenotype-associated
VAR_060032 commonName VAR_060032
VAR_060032 disease not phenotype-associated
VAR_060033 commonName VAR_060033
VAR_060033 disease not phenotype-associated
VAR_060034 commonName VAR_060034
VAR_060034 disease not phenotype-associated
VAR_060035 commonName VAR_060035
VAR_060035 disease not phenotype-associated
VAR_060036 commonName VAR_060036
VAR_060036 disease not phenotype-associated
VAR_060037 commonName VAR_060037
VAR_060037 disease not phenotype-associated
VAR_060038 commonName VAR_060038
VAR_060038 disease not phenotype-associated
VAR_060039 commonName VAR_060039
VAR_060039 disease not phenotype-associated
VAR_060040 commonName VAR_060040
VAR_060040 disease not phenotype-associated
VAR_060041 commonName VAR_060041
VAR_060041 disease not phenotype-associated
VAR_060042 commonName VAR_060042
VAR_060042 disease not phenotype-associated
VAR_060043 commonName VAR_060043
VAR_060043 disease not phenotype-associated
VAR_060044 commonName VAR_060044
VAR_060044 disease not phenotype-associated
VAR_060045 commonName VAR_060045
VAR_060045 disease not phenotype-associated
VAR_060046 commonName VAR_060046
VAR_060046 disease not phenotype-associated
VAR_060049 commonName VAR_060049
VAR_060049 disease not phenotype-associated
VAR_060050 commonName VAR_060050
VAR_060050 disease not phenotype-associated
VAR_060052 commonName VAR_060052
VAR_060052 disease not phenotype-associated
VAR_060053 commonName VAR_060053
VAR_060053 disease not phenotype-associated
VAR_060054 commonName VAR_060054
VAR_060054 disease not phenotype-associated
VAR_060055 commonName VAR_060055
VAR_060055 disease not phenotype-associated
VAR_060056 commonName VAR_060056
VAR_060056 disease not phenotype-associated
VAR_060057 commonName VAR_060057
VAR_060057 disease not phenotype-associated
VAR_060058 commonName VAR_060058
VAR_060058 disease not phenotype-associated
VAR_060059 commonName VAR_060059
VAR_060059 disease not phenotype-associated
VAR_060060 commonName VAR_060060
VAR_060060 disease not phenotype-associated
VAR_060061 commonName VAR_060061
VAR_060061 disease not phenotype-associated
VAR_060062 commonName VAR_060062
VAR_060062 disease not phenotype-associated
VAR_060063 commonName VAR_060063
VAR_060063 disease not phenotype-associated
VAR_060064 commonName VAR_060064
VAR_060064 disease not phenotype-associated
VAR_060065 commonName VAR_060065
VAR_060065 disease not phenotype-associated
VAR_060066 commonName VAR_060066
VAR_060066 disease not phenotype-associated
VAR_060067 commonName VAR_060067
VAR_060067 disease not phenotype-associated
VAR_060068 commonName VAR_060068
VAR_060068 disease not phenotype-associated
VAR_060069 commonName VAR_060069
VAR_060069 disease not phenotype-associated
VAR_060070 commonName VAR_060070
VAR_060070 disease not phenotype-associated
VAR_060071 commonName VAR_060071
VAR_060071 disease not phenotype-associated
VAR_060073 commonName VAR_060073
VAR_060073 disease not phenotype-associated
VAR_060075 commonName VAR_060075
VAR_060075 disease not phenotype-associated
VAR_060076 commonName VAR_060076
VAR_060076 disease not phenotype-associated
VAR_060077 commonName VAR_060077
VAR_060077 disease not phenotype-associated
VAR_060078 commonName VAR_060078
VAR_060078 disease not phenotype-associated
VAR_060079 commonName VAR_060079
VAR_060079 disease not phenotype-associated
VAR_060080 commonName VAR_060080
VAR_060080 disease not phenotype-associated
VAR_060081 commonName VAR_060081
VAR_060081 disease not phenotype-associated
VAR_060083 commonName VAR_060083
VAR_060083 disease not phenotype-associated
VAR_060085 commonName VAR_060085
VAR_060085 disease not phenotype-associated
VAR_060086 commonName VAR_060086
VAR_060086 disease not phenotype-associated
VAR_060087 commonName VAR_060087
VAR_060087 disease not phenotype-associated
VAR_060088 commonName VAR_060088
VAR_060088 disease not phenotype-associated
VAR_060089 commonName VAR_060089
VAR_060089 disease not phenotype-associated
VAR_060090 commonName VAR_060090
VAR_060090 disease not phenotype-associated
VAR_060091 commonName VAR_060091
VAR_060091 disease not phenotype-associated
VAR_060092 commonName VAR_060092
VAR_060092 disease not phenotype-associated
VAR_060093 commonName VAR_060093
VAR_060093 disease not phenotype-associated
VAR_060094 commonName VAR_060094
VAR_060094 disease not phenotype-associated
VAR_060095 commonName VAR_060095
VAR_060095 disease not phenotype-associated
VAR_060096 commonName VAR_060096
VAR_060096 disease not phenotype-associated
VAR_060097 commonName VAR_060097
VAR_060097 disease not phenotype-associated
VAR_060098 commonName VAR_060098
VAR_060098 disease not phenotype-associated
VAR_060099 commonName VAR_060099
VAR_060099 disease not phenotype-associated
VAR_060100 commonName VAR_060100
VAR_060100 disease not phenotype-associated
VAR_060101 commonName VAR_060101
VAR_060101 disease not phenotype-associated
VAR_060103 commonName VAR_060103
VAR_060103 disease not phenotype-associated
VAR_060104 commonName VAR_060104
VAR_060104 disease not phenotype-associated
VAR_060106 commonName VAR_060106
VAR_060106 disease not phenotype-associated
VAR_060107 commonName VAR_060107
VAR_060107 disease not phenotype-associated
VAR_060108 commonName VAR_060108
VAR_060108 disease not phenotype-associated
VAR_060109 commonName VAR_060109
VAR_060109 disease not phenotype-associated
VAR_060110 commonName VAR_060110
VAR_060110 disease not phenotype-associated
VAR_060111 commonName VAR_060111
VAR_060111 disease not phenotype-associated
VAR_060113 commonName VAR_060113
VAR_060113 disease not phenotype-associated
VAR_060114 commonName VAR_060114
VAR_060114 disease not phenotype-associated
VAR_060115 commonName VAR_060115
VAR_060115 disease not phenotype-associated
VAR_060116 commonName VAR_060116
VAR_060116 disease not phenotype-associated
VAR_060117 commonName VAR_060117
VAR_060117 disease not phenotype-associated
VAR_060118 commonName VAR_060118
VAR_060118 disease not phenotype-associated
VAR_060119 commonName VAR_060119
VAR_060119 disease not phenotype-associated
VAR_060122 commonName VAR_060122
VAR_060122 disease not phenotype-associated
VAR_060123 commonName VAR_060123
VAR_060123 disease not phenotype-associated
VAR_060124 commonName VAR_060124
VAR_060124 disease not phenotype-associated
VAR_060126 commonName VAR_060126
VAR_060126 disease not phenotype-associated
VAR_060127 commonName VAR_060127
VAR_060127 disease not phenotype-associated
VAR_060128 commonName VAR_060128
VAR_060128 disease not phenotype-associated
VAR_060129 commonName VAR_060129
VAR_060129 disease not phenotype-associated
VAR_060130 commonName VAR_060130
VAR_060130 disease not phenotype-associated
VAR_060131 commonName VAR_060131
VAR_060131 disease not phenotype-associated
VAR_060132 commonName VAR_060132
VAR_060132 disease not phenotype-associated
VAR_060133 commonName VAR_060133
VAR_060133 disease not phenotype-associated
VAR_060134 commonName VAR_060134
VAR_060134 disease not phenotype-associated
VAR_060135 commonName VAR_060135
VAR_060135 disease not phenotype-associated
VAR_060136 commonName VAR_060136
VAR_060136 disease not phenotype-associated
VAR_060137 commonName VAR_060137
VAR_060137 disease not phenotype-associated
VAR_060138 commonName VAR_060138
VAR_060138 disease not phenotype-associated
VAR_060139 commonName VAR_060139
VAR_060139 disease not phenotype-associated
VAR_060140 commonName VAR_060140
VAR_060140 disease not phenotype-associated
VAR_060142 commonName VAR_060142
VAR_060142 disease not phenotype-associated
VAR_060143 commonName VAR_060143
VAR_060143 disease not phenotype-associated
VAR_060144 commonName VAR_060144
VAR_060144 disease not phenotype-associated
VAR_060145 commonName VAR_060145
VAR_060145 disease not phenotype-associated
VAR_060146 commonName VAR_060146
VAR_060146 disease not phenotype-associated
VAR_060147 commonName VAR_060147
VAR_060147 disease not phenotype-associated
VAR_060148 commonName VAR_060148
VAR_060148 disease not phenotype-associated
VAR_060149 commonName VAR_060149
VAR_060149 disease not phenotype-associated
VAR_060150 commonName VAR_060150
VAR_060150 disease not phenotype-associated
VAR_060151 commonName VAR_060151
VAR_060151 disease not phenotype-associated
VAR_060154 commonName VAR_060154
VAR_060154 disease not phenotype-associated
VAR_060155 commonName VAR_060155
VAR_060155 disease not phenotype-associated
VAR_060158 commonName VAR_060158
VAR_060158 disease not phenotype-associated
VAR_060159 commonName VAR_060159
VAR_060159 disease not phenotype-associated
VAR_060160 commonName VAR_060160
VAR_060160 disease not phenotype-associated
VAR_060161 commonName VAR_060161
VAR_060161 disease not phenotype-associated
VAR_060162 commonName VAR_060162
VAR_060162 disease not phenotype-associated
VAR_060163 commonName VAR_060163
VAR_060163 disease not phenotype-associated
VAR_060164 commonName VAR_060164
VAR_060164 disease not phenotype-associated
VAR_060165 commonName VAR_060165
VAR_060165 disease not phenotype-associated
VAR_060166 commonName VAR_060166
VAR_060166 disease not phenotype-associated
VAR_060167 commonName VAR_060167
VAR_060167 disease not phenotype-associated
VAR_060168 commonName VAR_060168
VAR_060168 disease not phenotype-associated
VAR_060169 commonName VAR_060169
VAR_060169 disease not phenotype-associated
VAR_060170 commonName VAR_060170
VAR_060170 disease not phenotype-associated
VAR_060171 commonName VAR_060171
VAR_060171 disease not phenotype-associated
VAR_060172 commonName VAR_060172
VAR_060172 disease not phenotype-associated
VAR_060173 commonName VAR_060173
VAR_060173 disease not phenotype-associated
VAR_060174 commonName VAR_060174
VAR_060174 disease not phenotype-associated
VAR_060175 commonName VAR_060175
VAR_060175 disease not phenotype-associated
VAR_060176 commonName VAR_060176
VAR_060176 disease not phenotype-associated
VAR_060177 commonName VAR_060177
VAR_060177 disease not phenotype-associated
VAR_060178 commonName VAR_060178
VAR_060178 disease not phenotype-associated
VAR_060179 commonName VAR_060179
VAR_060179 disease not phenotype-associated
VAR_060180 commonName VAR_060180
VAR_060180 disease not phenotype-associated
VAR_060183 commonName VAR_060183
VAR_060183 disease not phenotype-associated
VAR_060184 commonName VAR_060184
VAR_060184 disease not phenotype-associated
VAR_060185 commonName VAR_060185
VAR_060185 disease not phenotype-associated
VAR_060186 commonName VAR_060186
VAR_060186 disease not phenotype-associated
VAR_060187 commonName VAR_060187
VAR_060187 disease not phenotype-associated
VAR_060190 commonName VAR_060190
VAR_060190 disease not phenotype-associated
VAR_060191 commonName VAR_060191
VAR_060191 disease not phenotype-associated
VAR_060192 commonName VAR_060192
VAR_060192 disease not phenotype-associated
VAR_060194 commonName VAR_060194
VAR_060194 disease not phenotype-associated
VAR_060195 commonName VAR_060195
VAR_060195 disease not phenotype-associated
VAR_060196 commonName VAR_060196
VAR_060196 disease not phenotype-associated
VAR_060197 commonName VAR_060197
VAR_060197 disease not phenotype-associated
VAR_060198 commonName VAR_060198
VAR_060198 disease not phenotype-associated
VAR_060199 commonName VAR_060199
VAR_060199 disease phenotype-associated
VAR_060199 phenoCommon Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721]
VAR_060200 commonName VAR_060200
VAR_060200 disease not phenotype-associated
VAR_060201 commonName VAR_060201
VAR_060201 disease not phenotype-associated
VAR_060202 commonName VAR_060202
VAR_060202 disease not phenotype-associated
VAR_060203 commonName VAR_060203
VAR_060204 commonName VAR_060204
VAR_060206 commonName VAR_060206
VAR_060206 disease phenotype-associated
VAR_060206 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]
VAR_060207 commonName VAR_060207
VAR_060207 disease phenotype-associated
VAR_060207 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]
VAR_060208 commonName VAR_060208
VAR_060208 disease phenotype-associated
VAR_060208 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]
VAR_060209 commonName VAR_060209
VAR_060209 disease phenotype-associated
VAR_060209 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]
VAR_060210 commonName VAR_060210
VAR_060210 disease phenotype-associated
VAR_060210 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]
VAR_060211 commonName VAR_060211
VAR_060211 disease not phenotype-associated
VAR_060212 commonName VAR_060212
VAR_060212 disease not phenotype-associated
VAR_060216 commonName VAR_060216
VAR_060216 disease not phenotype-associated
VAR_060217 commonName VAR_060217
VAR_060217 disease phenotype-associated
VAR_060217 phenoCommon Mulibrey nanism (MUL) [MIM:253250]
VAR_060218 commonName VAR_060218
VAR_060218 disease not phenotype-associated
VAR_060219 commonName VAR_060219
VAR_060219 disease phenotype-associated
VAR_060219 phenoCommon Mulibrey nanism (MUL) [MIM:253250]
VAR_060220 commonName VAR_060220
VAR_060220 disease phenotype-associated
VAR_060220 phenoCommon Mulibrey nanism (MUL) [MIM:253250]
VAR_060221 commonName VAR_060221
VAR_060221 disease phenotype-associated
VAR_060221 phenoCommon Urocanase deficiency (UROD) [MIM:276880]
VAR_060222 commonName VAR_060222
VAR_060222 disease not phenotype-associated
VAR_060223 commonName VAR_060223
VAR_060223 disease not phenotype-associated
VAR_060224 commonName VAR_060224
VAR_060224 disease not phenotype-associated
VAR_060225 commonName VAR_060225
VAR_060225 disease not phenotype-associated
VAR_060226 commonName VAR_060226
VAR_060226 disease not phenotype-associated
VAR_060227 commonName VAR_060227
VAR_060227 disease not phenotype-associated
VAR_060228 commonName VAR_060228
VAR_060228 disease not phenotype-associated
VAR_060229 commonName VAR_060229
VAR_060229 disease not phenotype-associated
VAR_060230 commonName VAR_060230
VAR_060230 disease not phenotype-associated
VAR_060231 commonName VAR_060231
VAR_060231 disease not phenotype-associated
VAR_060232 commonName VAR_060232
VAR_060232 disease not phenotype-associated
VAR_060233 commonName VAR_060233
VAR_060233 disease not phenotype-associated
VAR_060235 commonName VAR_060235
VAR_060235 disease not phenotype-associated
VAR_060236 commonName VAR_060236
VAR_060236 disease not phenotype-associated
VAR_060237 commonName VAR_060237
VAR_060237 disease not phenotype-associated
VAR_060238 commonName VAR_060238
VAR_060238 disease not phenotype-associated
VAR_060239 commonName VAR_060239
VAR_060239 disease not phenotype-associated
VAR_060240 commonName VAR_060240
VAR_060240 disease not phenotype-associated
VAR_060241 commonName VAR_060241
VAR_060241 disease not phenotype-associated
VAR_060242 commonName VAR_060242
VAR_060242 disease not phenotype-associated
VAR_060243 commonName VAR_060243
VAR_060243 disease not phenotype-associated
VAR_060244 commonName VAR_060244
VAR_060244 disease not phenotype-associated
VAR_060245 commonName VAR_060245
VAR_060245 disease not phenotype-associated
VAR_060246 commonName VAR_060246
VAR_060246 disease not phenotype-associated
VAR_060247 commonName VAR_060247
VAR_060247 disease not phenotype-associated
VAR_060248 commonName VAR_060248
VAR_060248 disease not phenotype-associated
VAR_060249 commonName VAR_060249
VAR_060249 disease not phenotype-associated
VAR_060250 commonName VAR_060250
VAR_060250 disease not phenotype-associated
VAR_060251 commonName VAR_060251
VAR_060251 disease not phenotype-associated
VAR_060252 commonName VAR_060252
VAR_060252 disease not phenotype-associated
VAR_060253 commonName VAR_060253
VAR_060253 disease not phenotype-associated
VAR_060254 commonName VAR_060254
VAR_060254 disease not phenotype-associated
VAR_060255 commonName VAR_060255
VAR_060255 disease not phenotype-associated
VAR_060256 commonName VAR_060256
VAR_060256 disease not phenotype-associated
VAR_060257 commonName VAR_060257
VAR_060257 disease not phenotype-associated
VAR_060258 commonName VAR_060258
VAR_060258 disease not phenotype-associated
VAR_060260 commonName VAR_060260
VAR_060260 disease not phenotype-associated
VAR_060261 commonName VAR_060261
VAR_060261 disease not phenotype-associated
VAR_060262 commonName VAR_060262
VAR_060262 disease not phenotype-associated
VAR_060265 commonName VAR_060265
VAR_060265 disease not phenotype-associated
VAR_060266 commonName VAR_060266
VAR_060266 disease not phenotype-associated
VAR_060267 commonName VAR_060267
VAR_060267 disease not phenotype-associated
VAR_060269 commonName VAR_060269
VAR_060269 disease not phenotype-associated
VAR_060270 commonName VAR_060270
VAR_060270 disease not phenotype-associated
VAR_060271 commonName VAR_060271
VAR_060271 disease not phenotype-associated
VAR_060272 commonName VAR_060272
VAR_060272 disease not phenotype-associated
VAR_060273 commonName VAR_060273
VAR_060273 disease not phenotype-associated
VAR_060274 commonName VAR_060274
VAR_060274 disease not phenotype-associated
VAR_060275 commonName VAR_060275
VAR_060275 disease not phenotype-associated
VAR_060276 commonName VAR_060276
VAR_060276 disease not phenotype-associated
VAR_060277 commonName VAR_060277
VAR_060277 disease not phenotype-associated
VAR_060278 commonName VAR_060278
VAR_060278 disease not phenotype-associated
VAR_060279 commonName VAR_060279
VAR_060279 disease not phenotype-associated
VAR_060280 commonName VAR_060280
VAR_060280 disease not phenotype-associated
VAR_060281 commonName VAR_060281
VAR_060281 disease not phenotype-associated
VAR_060282 commonName VAR_060282
VAR_060282 disease not phenotype-associated
VAR_060283 commonName VAR_060283
VAR_060283 disease not phenotype-associated
VAR_060284 commonName VAR_060284
VAR_060284 disease not phenotype-associated
VAR_060285 commonName VAR_060285
VAR_060285 disease not phenotype-associated
VAR_060286 commonName VAR_060286
VAR_060286 disease not phenotype-associated
VAR_060287 commonName VAR_060287
VAR_060287 disease not phenotype-associated
VAR_060288 commonName VAR_060288
VAR_060288 disease not phenotype-associated
VAR_060289 commonName VAR_060289
VAR_060289 disease not phenotype-associated
VAR_060290 commonName VAR_060290
VAR_060290 disease not phenotype-associated
VAR_060291 commonName VAR_060291
VAR_060291 disease not phenotype-associated
VAR_060292 commonName VAR_060292
VAR_060292 disease not phenotype-associated
VAR_060293 commonName VAR_060293
VAR_060293 disease not phenotype-associated
VAR_060294 commonName VAR_060294
VAR_060294 disease not phenotype-associated
VAR_060295 commonName VAR_060295
VAR_060295 disease not phenotype-associated
VAR_060296 commonName VAR_060296
VAR_060296 disease not phenotype-associated
VAR_060297 commonName VAR_060297
VAR_060297 disease not phenotype-associated
VAR_060298 commonName VAR_060298
VAR_060298 disease not phenotype-associated
VAR_060299 commonName VAR_060299
VAR_060299 disease not phenotype-associated
VAR_060311 commonName VAR_060311
VAR_060311 disease not phenotype-associated
VAR_060312 commonName VAR_060312
VAR_060312 disease not phenotype-associated
VAR_060313 commonName VAR_060313
VAR_060313 disease not phenotype-associated
VAR_060314 commonName VAR_060314
VAR_060314 disease not phenotype-associated
VAR_060315 commonName VAR_060315
VAR_060315 disease not phenotype-associated
VAR_060316 commonName VAR_060316
VAR_060316 disease not phenotype-associated
VAR_060317 commonName VAR_060317
VAR_060317 disease not phenotype-associated
VAR_060320 commonName VAR_060320
VAR_060320 disease not phenotype-associated
VAR_060321 commonName VAR_060321
VAR_060321 disease not phenotype-associated
VAR_060322 commonName VAR_060322
VAR_060322 disease not phenotype-associated
VAR_060323 commonName VAR_060323
VAR_060323 disease not phenotype-associated
VAR_060324 commonName VAR_060324
VAR_060324 disease not phenotype-associated
VAR_060325 commonName VAR_060325
VAR_060325 disease not phenotype-associated
VAR_060326 commonName VAR_060326
VAR_060326 disease not phenotype-associated
VAR_060327 commonName VAR_060327
VAR_060327 disease not phenotype-associated
VAR_060328 commonName VAR_060328
VAR_060328 disease not phenotype-associated
VAR_060330 commonName VAR_060330
VAR_060330 disease not phenotype-associated
VAR_060335 commonName VAR_060335
VAR_060335 disease not phenotype-associated
VAR_060336 commonName VAR_060336
VAR_060336 disease not phenotype-associated
VAR_060337 commonName VAR_060337
VAR_060337 disease not phenotype-associated
VAR_060338 commonName VAR_060338
VAR_060338 disease not phenotype-associated
VAR_060339 commonName VAR_060339
VAR_060339 disease not phenotype-associated
VAR_060340 commonName VAR_060340
VAR_060340 disease not phenotype-associated
VAR_060341 commonName VAR_060341
VAR_060341 disease not phenotype-associated
VAR_060342 commonName VAR_060342
VAR_060342 disease not phenotype-associated
VAR_060344 commonName VAR_060344
VAR_060344 disease not phenotype-associated
VAR_060345 commonName VAR_060345
VAR_060345 disease not phenotype-associated
VAR_060346 commonName VAR_060346
VAR_060346 disease not phenotype-associated
VAR_060347 commonName VAR_060347
VAR_060347 disease not phenotype-associated
VAR_060348 commonName VAR_060348
VAR_060348 disease not phenotype-associated
VAR_060349 commonName VAR_060349
VAR_060349 disease not phenotype-associated
VAR_060350 commonName VAR_060350
VAR_060350 disease not phenotype-associated
VAR_060351 commonName VAR_060351
VAR_060351 disease not phenotype-associated
VAR_060352 commonName VAR_060352
VAR_060352 disease not phenotype-associated
VAR_060353 commonName VAR_060353
VAR_060353 disease not phenotype-associated
VAR_060354 commonName VAR_060354
VAR_060354 disease not phenotype-associated
VAR_060355 commonName VAR_060355
VAR_060355 disease not phenotype-associated
VAR_060356 commonName VAR_060356
VAR_060356 disease not phenotype-associated
VAR_060357 commonName VAR_060357
VAR_060357 disease not phenotype-associated
VAR_060358 commonName VAR_060358
VAR_060358 disease not phenotype-associated
VAR_060359 commonName VAR_060359
VAR_060359 disease not phenotype-associated
VAR_060360 commonName VAR_060360
VAR_060360 disease not phenotype-associated
VAR_060361 commonName VAR_060361
VAR_060361 disease not phenotype-associated
VAR_060362 commonName VAR_060362
VAR_060362 disease not phenotype-associated
VAR_060363 commonName VAR_060363
VAR_060363 disease not phenotype-associated
VAR_060364 commonName VAR_060364
VAR_060364 disease not phenotype-associated
VAR_060365 commonName VAR_060365
VAR_060365 disease not phenotype-associated
VAR_060366 commonName VAR_060366
VAR_060366 disease not phenotype-associated
VAR_060368 commonName VAR_060368
VAR_060368 disease not phenotype-associated
VAR_060369 commonName VAR_060369
VAR_060369 disease not phenotype-associated
VAR_060370 commonName VAR_060370
VAR_060370 disease not phenotype-associated
VAR_060372 commonName VAR_060372
VAR_060372 disease not phenotype-associated
VAR_060373 commonName VAR_060373
VAR_060373 disease not phenotype-associated
VAR_060374 commonName VAR_060374
VAR_060374 disease not phenotype-associated
VAR_060375 commonName VAR_060375
VAR_060375 disease not phenotype-associated
VAR_060376 commonName VAR_060376
VAR_060376 disease not phenotype-associated
VAR_060383 commonName VAR_060383
VAR_060383 disease not phenotype-associated
VAR_060384 commonName VAR_060384
VAR_060384 disease not phenotype-associated
VAR_060385 commonName VAR_060385
VAR_060385 disease not phenotype-associated
VAR_060386 commonName VAR_060386
VAR_060386 disease not phenotype-associated
VAR_060387 commonName VAR_060387
VAR_060387 disease not phenotype-associated
VAR_060388 commonName VAR_060388
VAR_060388 disease not phenotype-associated
VAR_060391 commonName VAR_060391
VAR_060391 disease not phenotype-associated
VAR_060392 commonName VAR_060392
VAR_060392 disease not phenotype-associated
VAR_060393 commonName VAR_060393
VAR_060393 disease not phenotype-associated
VAR_060394 commonName VAR_060394
VAR_060394 disease not phenotype-associated
VAR_060395 commonName VAR_060395
VAR_060395 disease not phenotype-associated
VAR_060396 commonName VAR_060396
VAR_060396 disease not phenotype-associated
VAR_060397 commonName VAR_060397
VAR_060397 disease not phenotype-associated
VAR_060398 commonName VAR_060398
VAR_060398 disease not phenotype-associated
VAR_060399 commonName VAR_060399
VAR_060399 disease not phenotype-associated
VAR_060400 commonName VAR_060400
VAR_060400 disease not phenotype-associated
VAR_060402 commonName VAR_060402
VAR_060402 disease not phenotype-associated
VAR_060403 commonName VAR_060403
VAR_060403 disease not phenotype-associated
VAR_060404 commonName VAR_060404
VAR_060404 disease not phenotype-associated
VAR_060405 commonName VAR_060405
VAR_060405 disease not phenotype-associated
VAR_060406 commonName VAR_060406
VAR_060406 disease not phenotype-associated
VAR_060407 commonName VAR_060407
VAR_060407 disease not phenotype-associated
VAR_060408 commonName VAR_060408
VAR_060408 disease not phenotype-associated
VAR_060409 commonName VAR_060409
VAR_060409 disease not phenotype-associated
VAR_060410 commonName VAR_060410
VAR_060410 disease not phenotype-associated
VAR_060411 commonName VAR_060411
VAR_060411 disease not phenotype-associated
VAR_060412 commonName VAR_060412
VAR_060412 disease not phenotype-associated
VAR_060413 commonName VAR_060413
VAR_060413 disease not phenotype-associated
VAR_060414 commonName VAR_060414
VAR_060414 disease not phenotype-associated
VAR_060415 commonName VAR_060415
VAR_060415 disease not phenotype-associated
VAR_060416 commonName VAR_060416
VAR_060416 disease not phenotype-associated
VAR_060417 commonName VAR_060417
VAR_060417 disease not phenotype-associated
VAR_060418 commonName VAR_060418
VAR_060418 disease not phenotype-associated
VAR_060419 commonName VAR_060419
VAR_060419 disease not phenotype-associated
VAR_060420 commonName VAR_060420
VAR_060420 disease not phenotype-associated
VAR_060421 commonName VAR_060421
VAR_060421 disease not phenotype-associated
VAR_060422 commonName VAR_060422
VAR_060422 disease not phenotype-associated
VAR_060424 commonName VAR_060424
VAR_060424 disease not phenotype-associated
VAR_060425 commonName VAR_060425
VAR_060425 disease not phenotype-associated
VAR_060428 commonName VAR_060428
VAR_060428 disease not phenotype-associated
VAR_060429 commonName VAR_060429
VAR_060429 disease not phenotype-associated
VAR_060430 commonName VAR_060430
VAR_060430 disease not phenotype-associated
VAR_060431 commonName VAR_060431
VAR_060431 disease not phenotype-associated
VAR_060432 commonName VAR_060432
VAR_060432 disease not phenotype-associated
VAR_060433 commonName VAR_060433
VAR_060433 disease not phenotype-associated
VAR_060434 commonName VAR_060434
VAR_060434 disease not phenotype-associated
VAR_060435 commonName VAR_060435
VAR_060435 disease not phenotype-associated
VAR_060436 commonName VAR_060436
VAR_060436 disease not phenotype-associated
VAR_060437 commonName VAR_060437
VAR_060437 disease not phenotype-associated
VAR_060438 commonName VAR_060438
VAR_060438 disease not phenotype-associated
VAR_060439 commonName VAR_060439
VAR_060439 disease not phenotype-associated
VAR_060440 commonName VAR_060440
VAR_060440 disease not phenotype-associated
VAR_060441 commonName VAR_060441
VAR_060441 disease not phenotype-associated
VAR_060442 commonName VAR_060442
VAR_060442 disease not phenotype-associated
VAR_060443 commonName VAR_060443
VAR_060443 disease not phenotype-associated
VAR_060444 commonName VAR_060444
VAR_060444 disease not phenotype-associated
VAR_060445 commonName VAR_060445
VAR_060445 disease not phenotype-associated
VAR_060446 commonName VAR_060446
VAR_060446 disease not phenotype-associated
VAR_060447 commonName VAR_060447
VAR_060447 disease not phenotype-associated
VAR_060448 commonName VAR_060448
VAR_060448 disease not phenotype-associated
VAR_060449 commonName VAR_060449
VAR_060449 disease not phenotype-associated
VAR_060450 commonName VAR_060450
VAR_060450 disease not phenotype-associated
VAR_060451 commonName VAR_060451
VAR_060451 disease not phenotype-associated
VAR_060452 commonName VAR_060452
VAR_060452 disease not phenotype-associated
VAR_060453 commonName VAR_060453
VAR_060453 disease not phenotype-associated
VAR_060454 commonName VAR_060454
VAR_060454 disease not phenotype-associated
VAR_060455 commonName VAR_060455
VAR_060455 disease not phenotype-associated
VAR_060456 commonName VAR_060456
VAR_060456 disease not phenotype-associated
VAR_060460 commonName VAR_060460
VAR_060460 disease not phenotype-associated
VAR_060461 commonName VAR_060461
VAR_060461 disease not phenotype-associated
VAR_060462 commonName VAR_060462
VAR_060462 disease not phenotype-associated
VAR_060463 commonName VAR_060463
VAR_060463 disease not phenotype-associated
VAR_060465 commonName VAR_060465
VAR_060465 disease not phenotype-associated
VAR_060466 commonName VAR_060466
VAR_060466 disease not phenotype-associated
VAR_060467 commonName VAR_060467
VAR_060467 disease not phenotype-associated
VAR_060469 commonName VAR_060469
VAR_060469 disease not phenotype-associated
VAR_060470 commonName VAR_060470
VAR_060470 disease not phenotype-associated
VAR_060471 commonName VAR_060471
VAR_060471 disease not phenotype-associated
VAR_060472 commonName VAR_060472
VAR_060472 disease not phenotype-associated
VAR_060476 commonName VAR_060476
VAR_060476 disease not phenotype-associated
VAR_060477 commonName VAR_060477
VAR_060477 disease not phenotype-associated
VAR_060478 commonName VAR_060478
VAR_060478 disease not phenotype-associated
VAR_060479 commonName VAR_060479
VAR_060479 disease not phenotype-associated
VAR_060480 commonName VAR_060480
VAR_060480 disease not phenotype-associated
VAR_060481 commonName VAR_060481
VAR_060481 disease not phenotype-associated
VAR_060482 commonName VAR_060482
VAR_060482 disease not phenotype-associated
VAR_060483 commonName VAR_060483
VAR_060483 disease not phenotype-associated
VAR_060484 commonName VAR_060484
VAR_060484 disease not phenotype-associated
VAR_060485 commonName VAR_060485
VAR_060485 disease not phenotype-associated
VAR_060486 commonName VAR_060486
VAR_060486 disease not phenotype-associated
VAR_060487 commonName VAR_060487
VAR_060487 disease not phenotype-associated
VAR_060490 commonName VAR_060490
VAR_060491 commonName VAR_060491
VAR_060491 disease phenotype-associated
VAR_060491 phenoCommon Retinitis pigmentosa type 45 (RP45) [MIM:613767]
VAR_060492 commonName VAR_060492
VAR_060492 disease phenotype-associated
VAR_060492 phenoCommon Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
VAR_060534 commonName VAR_060534
VAR_060534 disease not phenotype-associated
VAR_060535 commonName VAR_060535
VAR_060535 disease not phenotype-associated
VAR_060536 commonName VAR_060536
VAR_060536 disease not phenotype-associated
VAR_060541 commonName VAR_060541
VAR_060541 disease not phenotype-associated
VAR_060543 commonName VAR_060543
VAR_060543 disease not phenotype-associated
VAR_060544 commonName VAR_060544
VAR_060544 disease not phenotype-associated
VAR_060545 commonName VAR_060545
VAR_060545 disease not phenotype-associated
VAR_060546 commonName VAR_060546
VAR_060546 disease not phenotype-associated
VAR_060547 commonName VAR_060547
VAR_060547 disease phenotype-associated
VAR_060547 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060548 commonName VAR_060548
VAR_060548 disease phenotype-associated
VAR_060548 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060549 commonName VAR_060549
VAR_060549 disease phenotype-associated
VAR_060549 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060550 commonName VAR_060550
VAR_060550 disease phenotype-associated
VAR_060550 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060552 commonName VAR_060552
VAR_060552 disease phenotype-associated
VAR_060552 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060553 commonName VAR_060553
VAR_060553 disease phenotype-associated
VAR_060553 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060554 commonName VAR_060554
VAR_060554 disease phenotype-associated
VAR_060554 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060555 commonName VAR_060555
VAR_060555 disease phenotype-associated
VAR_060555 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060556 commonName VAR_060556
VAR_060556 disease phenotype-associated
VAR_060556 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060557 commonName VAR_060557
VAR_060557 disease phenotype-associated
VAR_060557 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060558 commonName VAR_060558
VAR_060558 disease phenotype-associated
VAR_060558 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900]
VAR_060573 commonName VAR_060573
VAR_060573 disease phenotype-associated
VAR_060573 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_060575 commonName VAR_060575
VAR_060575 disease phenotype-associated
VAR_060575 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_060576 commonName VAR_060576
VAR_060576 disease phenotype-associated
VAR_060576 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060577 commonName VAR_060577
VAR_060577 disease phenotype-associated
VAR_060577 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060578 commonName VAR_060578
VAR_060578 disease phenotype-associated
VAR_060578 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060579 commonName VAR_060579
VAR_060579 disease phenotype-associated
VAR_060579 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060580 commonName VAR_060580
VAR_060580 disease phenotype-associated
VAR_060580 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060581 commonName VAR_060581
VAR_060581 disease phenotype-associated
VAR_060581 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
VAR_060584 commonName VAR_060584
VAR_060584 disease not phenotype-associated
VAR_060585 commonName VAR_060585
VAR_060585 disease not phenotype-associated
VAR_060586 commonName VAR_060586
VAR_060586 disease not phenotype-associated
VAR_060587 commonName VAR_060587
VAR_060587 disease not phenotype-associated
VAR_060588 commonName VAR_060588
VAR_060588 disease phenotype-associated
VAR_060588 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670]
VAR_060589 commonName VAR_060589
VAR_060589 disease not phenotype-associated
VAR_060591 commonName VAR_060591
VAR_060591 disease not phenotype-associated
VAR_060592 commonName VAR_060592
VAR_060592 disease not phenotype-associated
VAR_060593 commonName VAR_060593
VAR_060593 disease not phenotype-associated
VAR_060594 commonName VAR_060594
VAR_060594 disease not phenotype-associated
VAR_060595 commonName VAR_060595
VAR_060595 disease not phenotype-associated
VAR_060596 commonName VAR_060596
VAR_060596 disease not phenotype-associated
VAR_060597 commonName VAR_060597
VAR_060597 disease not phenotype-associated
VAR_060598 commonName VAR_060598
VAR_060598 disease not phenotype-associated
VAR_060599 commonName VAR_060599
VAR_060599 disease not phenotype-associated
VAR_060600 commonName VAR_060600
VAR_060600 disease not phenotype-associated
VAR_060601 commonName VAR_060601
VAR_060601 disease not phenotype-associated
VAR_060602 commonName VAR_060602
VAR_060602 disease not phenotype-associated
VAR_060603 commonName VAR_060603
VAR_060603 disease not phenotype-associated
VAR_060605 commonName VAR_060605
VAR_060605 disease not phenotype-associated
VAR_060608 commonName VAR_060608
VAR_060608 disease not phenotype-associated
VAR_060609 commonName VAR_060609
VAR_060609 disease not phenotype-associated
VAR_060610 commonName VAR_060610
VAR_060610 disease not phenotype-associated
VAR_060611 commonName VAR_060611
VAR_060611 disease not phenotype-associated
VAR_060612 commonName VAR_060612
VAR_060612 disease not phenotype-associated
VAR_060613 commonName VAR_060613
VAR_060613 disease not phenotype-associated
VAR_060614 commonName VAR_060614
VAR_060614 disease not phenotype-associated
VAR_060615 commonName VAR_060615
VAR_060615 disease not phenotype-associated
VAR_060616 commonName VAR_060616
VAR_060616 disease not phenotype-associated
VAR_060617 commonName VAR_060617
VAR_060617 disease not phenotype-associated
VAR_060618 commonName VAR_060618
VAR_060618 disease not phenotype-associated
VAR_060619 commonName VAR_060619
VAR_060619 disease not phenotype-associated
VAR_060620 commonName VAR_060620
VAR_060620 disease not phenotype-associated
VAR_060621 commonName VAR_060621
VAR_060621 disease not phenotype-associated
VAR_060622 commonName VAR_060622
VAR_060622 disease not phenotype-associated
VAR_060625 commonName VAR_060625
VAR_060625 disease not phenotype-associated
VAR_060661 commonName VAR_060661
VAR_060661 disease not phenotype-associated
VAR_060662 commonName VAR_060662
VAR_060662 disease not phenotype-associated
VAR_060665 commonName VAR_060665
VAR_060665 disease not phenotype-associated
VAR_060666 commonName VAR_060666
VAR_060666 disease not phenotype-associated
VAR_060667 commonName VAR_060667
VAR_060667 disease not phenotype-associated
VAR_060668 commonName VAR_060668
VAR_060668 disease not phenotype-associated
VAR_060670 commonName VAR_060670
VAR_060670 disease not phenotype-associated
VAR_060671 commonName VAR_060671
VAR_060671 disease not phenotype-associated
VAR_060672 commonName VAR_060672
VAR_060672 disease phenotype-associated
VAR_060672 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943]
VAR_060673 commonName VAR_060673
VAR_060673 disease phenotype-associated
VAR_060673 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943]
VAR_060674 commonName VAR_060674
VAR_060674 disease phenotype-associated
VAR_060674 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943]
VAR_060675 commonName VAR_060675
VAR_060678 commonName VAR_060678
VAR_060678 disease not phenotype-associated
VAR_060679 commonName VAR_060679
VAR_060679 disease not phenotype-associated
VAR_060680 commonName VAR_060680
VAR_060680 disease not phenotype-associated
VAR_060681 commonName VAR_060681
VAR_060681 disease not phenotype-associated
VAR_060682 commonName VAR_060682
VAR_060682 disease not phenotype-associated
VAR_060683 commonName VAR_060683
VAR_060683 disease not phenotype-associated
VAR_060684 commonName VAR_060684
VAR_060684 disease not phenotype-associated
VAR_060685 commonName VAR_060685
VAR_060685 disease not phenotype-associated
VAR_060686 commonName VAR_060686
VAR_060686 disease not phenotype-associated
VAR_060687 commonName VAR_060687
VAR_060687 disease not phenotype-associated
VAR_060688 commonName VAR_060688
VAR_060688 disease not phenotype-associated
VAR_060689 commonName VAR_060689
VAR_060689 disease not phenotype-associated
VAR_060690 commonName VAR_060690
VAR_060690 disease not phenotype-associated
VAR_060691 commonName VAR_060691
VAR_060691 disease not phenotype-associated
VAR_060692 commonName VAR_060692
VAR_060692 disease not phenotype-associated
VAR_060693 commonName VAR_060693
VAR_060693 disease not phenotype-associated
VAR_060694 commonName VAR_060694
VAR_060694 disease not phenotype-associated
VAR_060695 commonName VAR_060695
VAR_060695 disease not phenotype-associated
VAR_060696 commonName VAR_060696
VAR_060696 disease not phenotype-associated
VAR_060699 commonName VAR_060699
VAR_060699 disease not phenotype-associated
VAR_060700 commonName VAR_060700
VAR_060700 disease not phenotype-associated
VAR_060701 commonName VAR_060701
VAR_060701 disease not phenotype-associated
VAR_060702 commonName VAR_060702
VAR_060702 disease not phenotype-associated
VAR_060703 commonName VAR_060703
VAR_060703 disease not phenotype-associated
VAR_060704 commonName VAR_060704
VAR_060704 disease not phenotype-associated
VAR_060705 commonName VAR_060705
VAR_060705 disease not phenotype-associated
VAR_060706 commonName VAR_060706
VAR_060706 disease not phenotype-associated
VAR_060707 commonName VAR_060707
VAR_060707 disease not phenotype-associated
VAR_060708 commonName VAR_060708
VAR_060708 disease not phenotype-associated
VAR_060709 commonName VAR_060709
VAR_060709 disease not phenotype-associated
VAR_060711 commonName VAR_060711
VAR_060711 disease not phenotype-associated
VAR_060712 commonName VAR_060712
VAR_060712 disease not phenotype-associated
VAR_060713 commonName VAR_060713
VAR_060713 disease not phenotype-associated
VAR_060714 commonName VAR_060714
VAR_060714 disease not phenotype-associated
VAR_060715 commonName VAR_060715
VAR_060715 disease not phenotype-associated
VAR_060716 commonName VAR_060716
VAR_060716 disease not phenotype-associated
VAR_060718 commonName VAR_060718
VAR_060718 disease not phenotype-associated
VAR_060719 commonName VAR_060719
VAR_060719 disease not phenotype-associated
VAR_060720 commonName VAR_060720
VAR_060720 disease not phenotype-associated
VAR_060721 commonName VAR_060721
VAR_060721 disease not phenotype-associated
VAR_060722 commonName VAR_060722
VAR_060722 disease not phenotype-associated
VAR_060723 commonName VAR_060723
VAR_060723 disease not phenotype-associated
VAR_060724 commonName VAR_060724
VAR_060724 disease not phenotype-associated
VAR_060725 commonName VAR_060725
VAR_060725 disease not phenotype-associated
VAR_060726 commonName VAR_060726
VAR_060726 disease not phenotype-associated
VAR_060727 commonName VAR_060727
VAR_060727 disease not phenotype-associated
VAR_060728 commonName VAR_060728
VAR_060728 disease not phenotype-associated
VAR_060729 commonName VAR_060729
VAR_060729 disease not phenotype-associated
VAR_060730 commonName VAR_060730
VAR_060730 disease not phenotype-associated
VAR_060731 commonName VAR_060731
VAR_060731 disease not phenotype-associated
VAR_060732 commonName VAR_060732
VAR_060732 disease not phenotype-associated
VAR_060733 commonName VAR_060733
VAR_060733 disease not phenotype-associated
VAR_060734 commonName VAR_060734
VAR_060734 disease not phenotype-associated
VAR_060735 commonName VAR_060735
VAR_060735 disease not phenotype-associated
VAR_060736 commonName VAR_060736
VAR_060736 disease not phenotype-associated
VAR_060737 commonName VAR_060737
VAR_060737 disease not phenotype-associated
VAR_060738 commonName VAR_060738
VAR_060738 disease not phenotype-associated
VAR_060784 commonName VAR_060784
VAR_060784 disease not phenotype-associated
VAR_060785 commonName VAR_060785
VAR_060785 disease not phenotype-associated
VAR_060786 commonName VAR_060786
VAR_060786 disease not phenotype-associated
VAR_060787 commonName VAR_060787
VAR_060787 disease not phenotype-associated
VAR_060788 commonName VAR_060788
VAR_060788 disease not phenotype-associated
VAR_060789 commonName VAR_060789
VAR_060789 disease not phenotype-associated
VAR_060790 commonName VAR_060790
VAR_060790 disease not phenotype-associated
VAR_060791 commonName VAR_060791
VAR_060791 disease not phenotype-associated
VAR_060793 commonName VAR_060793
VAR_060793 disease phenotype-associated
VAR_060793 phenoCommon Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]
VAR_060794 commonName VAR_060794
VAR_060794 disease phenotype-associated
VAR_060794 phenoCommon Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]
VAR_060795 commonName VAR_060795
VAR_060795 disease not phenotype-associated
VAR_060796 commonName VAR_060796
VAR_060796 disease not phenotype-associated
VAR_060798 commonName VAR_060798
VAR_060798 disease phenotype-associated
VAR_060798 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]
VAR_060799 commonName VAR_060799
VAR_060799 disease phenotype-associated
VAR_060799 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]
VAR_060800 commonName VAR_060800
VAR_060800 disease phenotype-associated
VAR_060800 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]
VAR_060802 commonName VAR_060802
VAR_060802 disease phenotype-associated
VAR_060802 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_060803 commonName VAR_060803
VAR_060803 disease phenotype-associated
VAR_060803 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_060804 commonName VAR_060804
VAR_060806 commonName VAR_060806
VAR_060806 disease phenotype-associated
VAR_060806 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_060807 commonName VAR_060807
VAR_060807 disease phenotype-associated
VAR_060807 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093]
VAR_060809 commonName VAR_060809
VAR_060809 disease phenotype-associated
VAR_060809 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060810 commonName VAR_060810
VAR_060811 commonName VAR_060811
VAR_060811 disease phenotype-associated
VAR_060811 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060812 commonName VAR_060812
VAR_060812 disease phenotype-associated
VAR_060812 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060812 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060813 commonName VAR_060813
VAR_060813 disease phenotype-associated
VAR_060813 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060814 commonName VAR_060814
VAR_060814 disease phenotype-associated
VAR_060814 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060814 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060815 commonName VAR_060815
VAR_060815 disease phenotype-associated
VAR_060815 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060816 commonName VAR_060816
VAR_060816 disease phenotype-associated
VAR_060816 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060816 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060817 commonName VAR_060817
VAR_060817 disease phenotype-associated
VAR_060817 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060818 commonName VAR_060818
VAR_060818 disease phenotype-associated
VAR_060818 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060819 commonName VAR_060819
VAR_060819 disease phenotype-associated
VAR_060819 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060820 commonName VAR_060820
VAR_060820 disease phenotype-associated
VAR_060820 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060821 commonName VAR_060821
VAR_060821 disease phenotype-associated
VAR_060821 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060822 commonName VAR_060822
VAR_060822 disease phenotype-associated
VAR_060822 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_060823 commonName VAR_060823
VAR_060823 disease phenotype-associated
VAR_060823 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060824 commonName VAR_060824
VAR_060824 disease phenotype-associated
VAR_060824 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_060825 commonName VAR_060825
VAR_060825 disease phenotype-associated
VAR_060825 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060826 commonName VAR_060826
VAR_060826 disease phenotype-associated
VAR_060826 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060827 commonName VAR_060827
VAR_060827 disease phenotype-associated
VAR_060827 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060828 commonName VAR_060828
VAR_060828 disease phenotype-associated
VAR_060828 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060829 commonName VAR_060829
VAR_060829 disease phenotype-associated
VAR_060829 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060830 commonName VAR_060830
VAR_060830 disease phenotype-associated
VAR_060830 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060831 commonName VAR_060831
VAR_060831 disease phenotype-associated
VAR_060831 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060832 commonName VAR_060832
VAR_060832 disease phenotype-associated
VAR_060832 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060834 commonName VAR_060834
VAR_060834 disease phenotype-associated
VAR_060834 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060836 commonName VAR_060836
VAR_060836 disease phenotype-associated
VAR_060836 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060837 commonName VAR_060837
VAR_060837 disease phenotype-associated
VAR_060837 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060838 commonName VAR_060838
VAR_060838 disease phenotype-associated
VAR_060838 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060839 commonName VAR_060839
VAR_060839 disease phenotype-associated
VAR_060839 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060841 commonName VAR_060841
VAR_060841 disease phenotype-associated
VAR_060841 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060842 commonName VAR_060842
VAR_060842 disease phenotype-associated
VAR_060842 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060843 commonName VAR_060843
VAR_060843 disease phenotype-associated
VAR_060843 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060845 commonName VAR_060845
VAR_060845 disease phenotype-associated
VAR_060845 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060846 commonName VAR_060846
VAR_060846 disease phenotype-associated
VAR_060846 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060847 commonName VAR_060847
VAR_060847 disease phenotype-associated
VAR_060847 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060848 commonName VAR_060848
VAR_060848 disease phenotype-associated
VAR_060848 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060849 commonName VAR_060849
VAR_060849 disease not phenotype-associated
VAR_060851 commonName VAR_060851
VAR_060851 disease phenotype-associated
VAR_060851 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060852 commonName VAR_060852
VAR_060852 disease phenotype-associated
VAR_060852 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060853 commonName VAR_060853
VAR_060853 disease phenotype-associated
VAR_060853 phenoCommon Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]
VAR_060854 commonName VAR_060854
VAR_060854 disease phenotype-associated
VAR_060854 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060855 commonName VAR_060855
VAR_060855 disease phenotype-associated
VAR_060855 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060856 commonName VAR_060856
VAR_060856 disease phenotype-associated
VAR_060856 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060857 commonName VAR_060857
VAR_060857 disease phenotype-associated
VAR_060857 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060859 commonName VAR_060859
VAR_060859 disease phenotype-associated
VAR_060859 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060860 commonName VAR_060860
VAR_060860 disease phenotype-associated
VAR_060860 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060861 commonName VAR_060861
VAR_060861 disease phenotype-associated
VAR_060861 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060862 commonName VAR_060862
VAR_060862 disease phenotype-associated
VAR_060862 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060863 commonName VAR_060863
VAR_060863 disease phenotype-associated
VAR_060863 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060864 commonName VAR_060864
VAR_060864 disease phenotype-associated
VAR_060864 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060865 commonName VAR_060865
VAR_060865 disease phenotype-associated
VAR_060865 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060866 commonName VAR_060866
VAR_060866 disease phenotype-associated
VAR_060866 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060867 commonName VAR_060867
VAR_060867 disease not phenotype-associated
VAR_060868 commonName VAR_060868
VAR_060868 disease phenotype-associated
VAR_060868 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060869 commonName VAR_060869
VAR_060869 disease phenotype-associated
VAR_060869 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_060934 commonName VAR_060934
VAR_060934 disease phenotype-associated
VAR_060934 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060935 commonName VAR_060935
VAR_060935 disease phenotype-associated
VAR_060935 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060936 commonName VAR_060936
VAR_060936 disease phenotype-associated
VAR_060936 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060937 commonName VAR_060937
VAR_060937 disease phenotype-associated
VAR_060937 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060938 commonName VAR_060938
VAR_060938 disease phenotype-associated
VAR_060938 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060939 commonName VAR_060939
VAR_060939 disease phenotype-associated
VAR_060939 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060940 commonName VAR_060940
VAR_060940 disease phenotype-associated
VAR_060940 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060942 commonName VAR_060942
VAR_060942 disease phenotype-associated
VAR_060942 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060943 commonName VAR_060943
VAR_060943 disease phenotype-associated
VAR_060943 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060944 commonName VAR_060944
VAR_060944 disease phenotype-associated
VAR_060944 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060945 commonName VAR_060945
VAR_060945 disease phenotype-associated
VAR_060945 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060946 commonName VAR_060946
VAR_060946 disease phenotype-associated
VAR_060946 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060947 commonName VAR_060947
VAR_060947 disease phenotype-associated
VAR_060947 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060948 commonName VAR_060948
VAR_060948 disease phenotype-associated
VAR_060948 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060949 commonName VAR_060949
VAR_060949 disease phenotype-associated
VAR_060949 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]
VAR_060950 commonName VAR_060950
VAR_060950 disease not phenotype-associated
VAR_060951 commonName VAR_060951
VAR_060951 disease not phenotype-associated
VAR_060952 commonName VAR_060952
VAR_060952 disease not phenotype-associated
VAR_060953 commonName VAR_060953
VAR_060953 disease not phenotype-associated
VAR_060954 commonName VAR_060954
VAR_060954 disease not phenotype-associated
VAR_060955 commonName VAR_060955
VAR_060955 disease not phenotype-associated
VAR_060956 commonName VAR_060956
VAR_060956 disease not phenotype-associated
VAR_060957 commonName VAR_060957
VAR_060957 disease not phenotype-associated
VAR_060958 commonName VAR_060958
VAR_060958 disease not phenotype-associated
VAR_060959 commonName VAR_060959
VAR_060959 disease not phenotype-associated
VAR_060960 commonName VAR_060960
VAR_060960 disease not phenotype-associated
VAR_060961 commonName VAR_060961
VAR_060961 disease not phenotype-associated
VAR_060962 commonName VAR_060962
VAR_060962 disease not phenotype-associated
VAR_060963 commonName VAR_060963
VAR_060963 disease not phenotype-associated
VAR_060964 commonName VAR_060964
VAR_060964 disease not phenotype-associated
VAR_060965 commonName VAR_060965
VAR_060965 disease not phenotype-associated
VAR_060966 commonName VAR_060966
VAR_060966 disease not phenotype-associated
VAR_060967 commonName VAR_060967
VAR_060967 disease not phenotype-associated
VAR_060968 commonName VAR_060968
VAR_060968 disease not phenotype-associated
VAR_060969 commonName VAR_060969
VAR_060969 disease not phenotype-associated
VAR_060970 commonName VAR_060970
VAR_060970 disease not phenotype-associated
VAR_060971 commonName VAR_060971
VAR_060971 disease not phenotype-associated
VAR_060972 commonName VAR_060972
VAR_060972 disease not phenotype-associated
VAR_060973 commonName VAR_060973
VAR_060973 disease not phenotype-associated
VAR_060974 commonName VAR_060974
VAR_060974 disease not phenotype-associated
VAR_060975 commonName VAR_060975
VAR_060975 disease not phenotype-associated
VAR_060976 commonName VAR_060976
VAR_060976 disease not phenotype-associated
VAR_060977 commonName VAR_060977
VAR_060977 disease not phenotype-associated
VAR_060978 commonName VAR_060978
VAR_060978 disease not phenotype-associated
VAR_060979 commonName VAR_060979
VAR_060979 disease not phenotype-associated
VAR_060980 commonName VAR_060980
VAR_060980 disease not phenotype-associated
VAR_060981 commonName VAR_060981
VAR_060981 disease not phenotype-associated
VAR_060982 commonName VAR_060982
VAR_060982 disease not phenotype-associated
VAR_060983 commonName VAR_060983
VAR_060983 disease not phenotype-associated
VAR_060984 commonName VAR_060984
VAR_060984 disease not phenotype-associated
VAR_060985 commonName VAR_060985
VAR_060985 disease not phenotype-associated
VAR_060986 commonName VAR_060986
VAR_060986 disease not phenotype-associated
VAR_060988 commonName VAR_060988
VAR_060988 disease not phenotype-associated
VAR_060989 commonName VAR_060989
VAR_060989 disease not phenotype-associated
VAR_060990 commonName VAR_060990
VAR_060990 disease not phenotype-associated
VAR_060991 commonName VAR_060991
VAR_060991 disease not phenotype-associated
VAR_060993 commonName VAR_060993
VAR_060993 disease not phenotype-associated
VAR_060994 commonName VAR_060994
VAR_060994 disease not phenotype-associated
VAR_060996 commonName VAR_060996
VAR_060996 disease not phenotype-associated
VAR_060997 commonName VAR_060997
VAR_060997 disease not phenotype-associated
VAR_060998 commonName VAR_060998
VAR_060998 disease not phenotype-associated
VAR_060999 commonName VAR_060999
VAR_060999 disease not phenotype-associated
VAR_061000 commonName VAR_061000
VAR_061000 disease not phenotype-associated
VAR_061001 commonName VAR_061001
VAR_061001 disease not phenotype-associated
VAR_061002 commonName VAR_061002
VAR_061002 disease not phenotype-associated
VAR_061003 commonName VAR_061003
VAR_061003 disease not phenotype-associated
VAR_061005 commonName VAR_061005
VAR_061005 disease not phenotype-associated
VAR_061006 commonName VAR_061006
VAR_061006 disease not phenotype-associated
VAR_061007 commonName VAR_061007
VAR_061007 disease not phenotype-associated
VAR_061008 commonName VAR_061008
VAR_061008 disease not phenotype-associated
VAR_061009 commonName VAR_061009
VAR_061009 disease not phenotype-associated
VAR_061010 commonName VAR_061010
VAR_061010 disease not phenotype-associated
VAR_061011 commonName VAR_061011
VAR_061011 disease not phenotype-associated
VAR_061012 commonName VAR_061012
VAR_061012 disease not phenotype-associated
VAR_061013 commonName VAR_061013
VAR_061013 disease not phenotype-associated
VAR_061014 commonName VAR_061014
VAR_061014 disease not phenotype-associated
VAR_061015 commonName VAR_061015
VAR_061015 disease not phenotype-associated
VAR_061016 commonName VAR_061016
VAR_061016 disease not phenotype-associated
VAR_061017 commonName VAR_061017
VAR_061017 disease not phenotype-associated
VAR_061018 commonName VAR_061018
VAR_061018 disease not phenotype-associated
VAR_061019 commonName VAR_061019
VAR_061019 disease not phenotype-associated
VAR_061020 commonName VAR_061020
VAR_061020 disease not phenotype-associated
VAR_061021 commonName VAR_061021
VAR_061021 disease not phenotype-associated
VAR_061022 commonName VAR_061022
VAR_061022 disease not phenotype-associated
VAR_061023 commonName VAR_061023
VAR_061023 disease not phenotype-associated
VAR_061024 commonName VAR_061024
VAR_061024 disease not phenotype-associated
VAR_061025 commonName VAR_061025
VAR_061025 disease not phenotype-associated
VAR_061026 commonName VAR_061026
VAR_061026 disease not phenotype-associated
VAR_061027 commonName VAR_061027
VAR_061027 disease not phenotype-associated
VAR_061028 commonName VAR_061028
VAR_061028 disease not phenotype-associated
VAR_061029 commonName VAR_061029
VAR_061029 disease not phenotype-associated
VAR_061030 commonName VAR_061030
VAR_061030 disease not phenotype-associated
VAR_061031 commonName VAR_061031
VAR_061031 disease not phenotype-associated
VAR_061032 commonName VAR_061032
VAR_061032 disease not phenotype-associated
VAR_061034 commonName VAR_061034
VAR_061034 disease not phenotype-associated
VAR_061035 commonName VAR_061035
VAR_061035 disease not phenotype-associated
VAR_061036 commonName VAR_061036
VAR_061036 disease not phenotype-associated
VAR_061037 commonName VAR_061037
VAR_061037 disease not phenotype-associated
VAR_061038 commonName VAR_061038
VAR_061038 disease not phenotype-associated
VAR_061039 commonName VAR_061039
VAR_061039 disease not phenotype-associated
VAR_061040 commonName VAR_061040
VAR_061040 disease not phenotype-associated
VAR_061042 commonName VAR_061042
VAR_061042 disease not phenotype-associated
VAR_061043 commonName VAR_061043
VAR_061043 disease not phenotype-associated
VAR_061044 commonName VAR_061044
VAR_061044 disease not phenotype-associated
VAR_061045 commonName VAR_061045
VAR_061045 disease not phenotype-associated
VAR_061046 commonName VAR_061046
VAR_061046 disease not phenotype-associated
VAR_061047 commonName VAR_061047
VAR_061047 disease not phenotype-associated
VAR_061048 commonName VAR_061048
VAR_061048 disease not phenotype-associated
VAR_061049 commonName VAR_061049
VAR_061049 disease not phenotype-associated
VAR_061050 commonName VAR_061050
VAR_061050 disease not phenotype-associated
VAR_061051 commonName VAR_061051
VAR_061051 disease not phenotype-associated
VAR_061052 commonName VAR_061052
VAR_061052 disease not phenotype-associated
VAR_061053 commonName VAR_061053
VAR_061053 disease not phenotype-associated
VAR_061054 commonName VAR_061054
VAR_061054 disease not phenotype-associated
VAR_061055 commonName VAR_061055
VAR_061055 disease not phenotype-associated
VAR_061056 commonName VAR_061056
VAR_061056 disease not phenotype-associated
VAR_061057 commonName VAR_061057
VAR_061057 disease not phenotype-associated
VAR_061058 commonName VAR_061058
VAR_061058 disease not phenotype-associated
VAR_061059 commonName VAR_061059
VAR_061059 disease not phenotype-associated
VAR_061060 commonName VAR_061060
VAR_061060 disease not phenotype-associated
VAR_061061 commonName VAR_061061
VAR_061061 disease not phenotype-associated
VAR_061062 commonName VAR_061062
VAR_061062 disease not phenotype-associated
VAR_061063 commonName VAR_061063
VAR_061063 disease not phenotype-associated
VAR_061064 commonName VAR_061064
VAR_061064 disease not phenotype-associated
VAR_061065 commonName VAR_061065
VAR_061065 disease not phenotype-associated
VAR_061066 commonName VAR_061066
VAR_061066 disease not phenotype-associated
VAR_061067 commonName VAR_061067
VAR_061067 disease not phenotype-associated
VAR_061068 commonName VAR_061068
VAR_061068 disease not phenotype-associated
VAR_061069 commonName VAR_061069
VAR_061069 disease not phenotype-associated
VAR_061070 commonName VAR_061070
VAR_061070 disease not phenotype-associated
VAR_061071 commonName VAR_061071
VAR_061071 disease not phenotype-associated
VAR_061072 commonName VAR_061072
VAR_061072 disease not phenotype-associated
VAR_061073 commonName VAR_061073
VAR_061073 disease not phenotype-associated
VAR_061074 commonName VAR_061074
VAR_061074 disease not phenotype-associated
VAR_061075 commonName VAR_061075
VAR_061075 disease not phenotype-associated
VAR_061076 commonName VAR_061076
VAR_061076 disease not phenotype-associated
VAR_061077 commonName VAR_061077
VAR_061077 disease not phenotype-associated
VAR_061078 commonName VAR_061078
VAR_061078 disease not phenotype-associated
VAR_061079 commonName VAR_061079
VAR_061079 disease not phenotype-associated
VAR_061081 commonName VAR_061081
VAR_061081 disease not phenotype-associated
VAR_061082 commonName VAR_061082
VAR_061082 disease not phenotype-associated
VAR_061084 commonName VAR_061084
VAR_061084 disease not phenotype-associated
VAR_061085 commonName VAR_061085
VAR_061085 disease not phenotype-associated
VAR_061086 commonName VAR_061086
VAR_061086 disease not phenotype-associated
VAR_061087 commonName VAR_061087
VAR_061087 disease not phenotype-associated
VAR_061088 commonName VAR_061088
VAR_061088 disease not phenotype-associated
VAR_061089 commonName VAR_061089
VAR_061089 disease not phenotype-associated
VAR_061090 commonName VAR_061090
VAR_061090 disease not phenotype-associated
VAR_061091 commonName VAR_061091
VAR_061091 disease not phenotype-associated
VAR_061092 commonName VAR_061092
VAR_061092 disease not phenotype-associated
VAR_061093 commonName VAR_061093
VAR_061093 disease not phenotype-associated
VAR_061094 commonName VAR_061094
VAR_061094 disease not phenotype-associated
VAR_061095 commonName VAR_061095
VAR_061095 disease not phenotype-associated
VAR_061096 commonName VAR_061096
VAR_061096 disease not phenotype-associated
VAR_061097 commonName VAR_061097
VAR_061097 disease not phenotype-associated
VAR_061098 commonName VAR_061098
VAR_061098 disease not phenotype-associated
VAR_061099 commonName VAR_061099
VAR_061099 disease not phenotype-associated
VAR_061100 commonName VAR_061100
VAR_061100 disease not phenotype-associated
VAR_061101 commonName VAR_061101
VAR_061101 disease not phenotype-associated
VAR_061102 commonName VAR_061102
VAR_061102 disease not phenotype-associated
VAR_061103 commonName VAR_061103
VAR_061103 disease not phenotype-associated
VAR_061104 commonName VAR_061104
VAR_061104 disease not phenotype-associated
VAR_061105 commonName VAR_061105
VAR_061105 disease not phenotype-associated
VAR_061106 commonName VAR_061106
VAR_061106 disease not phenotype-associated
VAR_061107 commonName VAR_061107
VAR_061107 disease not phenotype-associated
VAR_061108 commonName VAR_061108
VAR_061108 disease not phenotype-associated
VAR_061109 commonName VAR_061109
VAR_061109 disease not phenotype-associated
VAR_061110 commonName VAR_061110
VAR_061110 disease not phenotype-associated
VAR_061111 commonName VAR_061111
VAR_061111 disease not phenotype-associated
VAR_061112 commonName VAR_061112
VAR_061112 disease not phenotype-associated
VAR_061113 commonName VAR_061113
VAR_061113 disease not phenotype-associated
VAR_061114 commonName VAR_061114
VAR_061114 disease not phenotype-associated
VAR_061116 commonName VAR_061116
VAR_061116 disease not phenotype-associated
VAR_061117 commonName VAR_061117
VAR_061117 disease not phenotype-associated
VAR_061118 commonName VAR_061118
VAR_061118 disease not phenotype-associated
VAR_061120 commonName VAR_061120
VAR_061120 disease not phenotype-associated
VAR_061121 commonName VAR_061121
VAR_061121 disease not phenotype-associated
VAR_061122 commonName VAR_061122
VAR_061122 disease not phenotype-associated
VAR_061123 commonName VAR_061123
VAR_061123 disease not phenotype-associated
VAR_061124 commonName VAR_061124
VAR_061124 disease not phenotype-associated
VAR_061125 commonName VAR_061125
VAR_061125 disease not phenotype-associated
VAR_061126 commonName VAR_061126
VAR_061126 disease not phenotype-associated
VAR_061127 commonName VAR_061127
VAR_061127 disease not phenotype-associated
VAR_061128 commonName VAR_061128
VAR_061128 disease not phenotype-associated
VAR_061129 commonName VAR_061129
VAR_061129 disease not phenotype-associated
VAR_061130 commonName VAR_061130
VAR_061130 disease not phenotype-associated
VAR_061131 commonName VAR_061131
VAR_061131 disease not phenotype-associated
VAR_061132 commonName VAR_061132
VAR_061132 disease not phenotype-associated
VAR_061133 commonName VAR_061133
VAR_061133 disease not phenotype-associated
VAR_061134 commonName VAR_061134
VAR_061134 disease not phenotype-associated
VAR_061135 commonName VAR_061135
VAR_061135 disease not phenotype-associated
VAR_061136 commonName VAR_061136
VAR_061136 disease not phenotype-associated
VAR_061137 commonName VAR_061137
VAR_061137 disease not phenotype-associated
VAR_061138 commonName VAR_061138
VAR_061138 disease not phenotype-associated
VAR_061139 commonName VAR_061139
VAR_061139 disease not phenotype-associated
VAR_061140 commonName VAR_061140
VAR_061140 disease not phenotype-associated
VAR_061141 commonName VAR_061141
VAR_061141 disease not phenotype-associated
VAR_061142 commonName VAR_061142
VAR_061142 disease not phenotype-associated
VAR_061143 commonName VAR_061143
VAR_061143 disease not phenotype-associated
VAR_061144 commonName VAR_061144
VAR_061144 disease not phenotype-associated
VAR_061145 commonName VAR_061145
VAR_061145 disease not phenotype-associated
VAR_061146 commonName VAR_061146
VAR_061146 disease not phenotype-associated
VAR_061147 commonName VAR_061147
VAR_061147 disease not phenotype-associated
VAR_061149 commonName VAR_061149
VAR_061149 disease not phenotype-associated
VAR_061150 commonName VAR_061150
VAR_061150 disease not phenotype-associated
VAR_061151 commonName VAR_061151
VAR_061151 disease not phenotype-associated
VAR_061152 commonName VAR_061152
VAR_061152 disease not phenotype-associated
VAR_061153 commonName VAR_061153
VAR_061153 disease not phenotype-associated
VAR_061154 commonName VAR_061154
VAR_061154 disease not phenotype-associated
VAR_061155 commonName VAR_061155
VAR_061155 disease not phenotype-associated
VAR_061156 commonName VAR_061156
VAR_061156 disease not phenotype-associated
VAR_061157 commonName VAR_061157
VAR_061157 disease not phenotype-associated
VAR_061159 commonName VAR_061159
VAR_061159 disease not phenotype-associated
VAR_061160 commonName VAR_061160
VAR_061160 disease not phenotype-associated
VAR_061162 commonName VAR_061162
VAR_061162 disease not phenotype-associated
VAR_061163 commonName VAR_061163
VAR_061163 disease not phenotype-associated
VAR_061164 commonName VAR_061164
VAR_061164 disease not phenotype-associated
VAR_061165 commonName VAR_061165
VAR_061165 disease not phenotype-associated
VAR_061167 commonName VAR_061167
VAR_061167 disease not phenotype-associated
VAR_061168 commonName VAR_061168
VAR_061168 disease not phenotype-associated
VAR_061169 commonName VAR_061169
VAR_061169 disease not phenotype-associated
VAR_061170 commonName VAR_061170
VAR_061170 disease not phenotype-associated
VAR_061171 commonName VAR_061171
VAR_061171 disease not phenotype-associated
VAR_061172 commonName VAR_061172
VAR_061172 disease not phenotype-associated
VAR_061174 commonName VAR_061174
VAR_061174 disease not phenotype-associated
VAR_061175 commonName VAR_061175
VAR_061175 disease not phenotype-associated
VAR_061176 commonName VAR_061176
VAR_061176 disease not phenotype-associated
VAR_061177 commonName VAR_061177
VAR_061177 disease not phenotype-associated
VAR_061178 commonName VAR_061178
VAR_061178 disease not phenotype-associated
VAR_061179 commonName VAR_061179
VAR_061179 disease not phenotype-associated
VAR_061180 commonName VAR_061180
VAR_061180 disease not phenotype-associated
VAR_061181 commonName VAR_061181
VAR_061181 disease not phenotype-associated
VAR_061182 commonName VAR_061182
VAR_061182 disease not phenotype-associated
VAR_061183 commonName VAR_061183
VAR_061183 disease not phenotype-associated
VAR_061184 commonName VAR_061184
VAR_061184 disease not phenotype-associated
VAR_061185 commonName VAR_061185
VAR_061185 disease not phenotype-associated
VAR_061186 commonName VAR_061186
VAR_061186 disease not phenotype-associated
VAR_061187 commonName VAR_061187
VAR_061187 disease not phenotype-associated
VAR_061188 commonName VAR_061188
VAR_061188 disease not phenotype-associated
VAR_061190 commonName VAR_061190
VAR_061190 disease not phenotype-associated
VAR_061191 commonName VAR_061191
VAR_061191 disease not phenotype-associated
VAR_061192 commonName VAR_061192
VAR_061192 disease not phenotype-associated
VAR_061194 commonName VAR_061194
VAR_061194 disease not phenotype-associated
VAR_061195 commonName VAR_061195
VAR_061195 disease not phenotype-associated
VAR_061196 commonName VAR_061196
VAR_061196 disease not phenotype-associated
VAR_061197 commonName VAR_061197
VAR_061197 disease not phenotype-associated
VAR_061198 commonName VAR_061198
VAR_061198 disease not phenotype-associated
VAR_061199 commonName VAR_061199
VAR_061199 disease not phenotype-associated
VAR_061200 commonName VAR_061200
VAR_061200 disease not phenotype-associated
VAR_061201 commonName VAR_061201
VAR_061201 disease not phenotype-associated
VAR_061202 commonName VAR_061202
VAR_061202 disease not phenotype-associated
VAR_061203 commonName VAR_061203
VAR_061203 disease not phenotype-associated
VAR_061204 commonName VAR_061204
VAR_061204 disease not phenotype-associated
VAR_061205 commonName VAR_061205
VAR_061205 disease not phenotype-associated
VAR_061207 commonName VAR_061207
VAR_061207 disease not phenotype-associated
VAR_061209 commonName VAR_061209
VAR_061209 disease not phenotype-associated
VAR_061210 commonName VAR_061210
VAR_061210 disease not phenotype-associated
VAR_061211 commonName VAR_061211
VAR_061211 disease not phenotype-associated
VAR_061212 commonName VAR_061212
VAR_061212 disease not phenotype-associated
VAR_061213 commonName VAR_061213
VAR_061213 disease not phenotype-associated
VAR_061214 commonName VAR_061214
VAR_061214 disease not phenotype-associated
VAR_061215 commonName VAR_061215
VAR_061215 disease not phenotype-associated
VAR_061216 commonName VAR_061216
VAR_061216 disease not phenotype-associated
VAR_061217 commonName VAR_061217
VAR_061217 disease not phenotype-associated
VAR_061218 commonName VAR_061218
VAR_061218 disease not phenotype-associated
VAR_061219 commonName VAR_061219
VAR_061219 disease not phenotype-associated
VAR_061220 commonName VAR_061220
VAR_061220 disease not phenotype-associated
VAR_061221 commonName VAR_061221
VAR_061221 disease not phenotype-associated
VAR_061222 commonName VAR_061222
VAR_061222 disease not phenotype-associated
VAR_061223 commonName VAR_061223
VAR_061223 disease not phenotype-associated
VAR_061224 commonName VAR_061224
VAR_061224 disease not phenotype-associated
VAR_061225 commonName VAR_061225
VAR_061225 disease not phenotype-associated
VAR_061226 commonName VAR_061226
VAR_061226 disease not phenotype-associated
VAR_061227 commonName VAR_061227
VAR_061227 disease not phenotype-associated
VAR_061228 commonName VAR_061228
VAR_061228 disease not phenotype-associated
VAR_061229 commonName VAR_061229
VAR_061229 disease not phenotype-associated
VAR_061230 commonName VAR_061230
VAR_061230 disease not phenotype-associated
VAR_061231 commonName VAR_061231
VAR_061231 disease not phenotype-associated
VAR_061232 commonName VAR_061232
VAR_061232 disease not phenotype-associated
VAR_061233 commonName VAR_061233
VAR_061233 disease not phenotype-associated
VAR_061234 commonName VAR_061234
VAR_061234 disease not phenotype-associated
VAR_061235 commonName VAR_061235
VAR_061235 disease not phenotype-associated
VAR_061236 commonName VAR_061236
VAR_061236 disease not phenotype-associated
VAR_061238 commonName VAR_061238
VAR_061238 disease not phenotype-associated
VAR_061239 commonName VAR_061239
VAR_061239 disease not phenotype-associated
VAR_061240 commonName VAR_061240
VAR_061240 disease not phenotype-associated
VAR_061241 commonName VAR_061241
VAR_061241 disease not phenotype-associated
VAR_061242 commonName VAR_061242
VAR_061242 disease not phenotype-associated
VAR_061243 commonName VAR_061243
VAR_061243 disease not phenotype-associated
VAR_061244 commonName VAR_061244
VAR_061244 disease not phenotype-associated
VAR_061245 commonName VAR_061245
VAR_061245 disease not phenotype-associated
VAR_061246 commonName VAR_061246
VAR_061246 disease not phenotype-associated
VAR_061247 commonName VAR_061247
VAR_061247 disease not phenotype-associated
VAR_061248 commonName VAR_061248
VAR_061248 disease not phenotype-associated
VAR_061249 commonName VAR_061249
VAR_061249 disease not phenotype-associated
VAR_061250 commonName VAR_061250
VAR_061250 disease not phenotype-associated
VAR_061253 commonName VAR_061253
VAR_061253 disease not phenotype-associated
VAR_061254 commonName VAR_061254
VAR_061254 disease not phenotype-associated
VAR_061255 commonName VAR_061255
VAR_061255 disease not phenotype-associated
VAR_061256 commonName VAR_061256
VAR_061256 disease not phenotype-associated
VAR_061257 commonName VAR_061257
VAR_061257 disease not phenotype-associated
VAR_061258 commonName VAR_061258
VAR_061258 disease not phenotype-associated
VAR_061259 commonName VAR_061259
VAR_061259 disease not phenotype-associated
VAR_061260 commonName VAR_061260
VAR_061260 disease not phenotype-associated
VAR_061261 commonName VAR_061261
VAR_061261 disease not phenotype-associated
VAR_061262 commonName VAR_061262
VAR_061262 disease not phenotype-associated
VAR_061263 commonName VAR_061263
VAR_061263 disease not phenotype-associated
VAR_061264 commonName VAR_061264
VAR_061264 disease not phenotype-associated
VAR_061265 commonName VAR_061265
VAR_061265 disease not phenotype-associated
VAR_061266 commonName VAR_061266
VAR_061266 disease not phenotype-associated
VAR_061267 commonName VAR_061267
VAR_061267 disease not phenotype-associated
VAR_061269 commonName VAR_061269
VAR_061269 disease not phenotype-associated
VAR_061270 commonName VAR_061270
VAR_061270 disease not phenotype-associated
VAR_061271 commonName VAR_061271
VAR_061271 disease not phenotype-associated
VAR_061273 commonName VAR_061273
VAR_061273 disease not phenotype-associated
VAR_061275 commonName VAR_061275
VAR_061275 disease not phenotype-associated
VAR_061276 commonName VAR_061276
VAR_061276 disease not phenotype-associated
VAR_061277 commonName VAR_061277
VAR_061277 disease not phenotype-associated
VAR_061278 commonName VAR_061278
VAR_061278 disease not phenotype-associated
VAR_061279 commonName VAR_061279
VAR_061279 disease not phenotype-associated
VAR_061280 commonName VAR_061280
VAR_061280 disease not phenotype-associated
VAR_061281 commonName VAR_061281
VAR_061281 disease not phenotype-associated
VAR_061282 commonName VAR_061282
VAR_061282 disease not phenotype-associated
VAR_061283 commonName VAR_061283
VAR_061283 disease not phenotype-associated
VAR_061284 commonName VAR_061284
VAR_061284 disease not phenotype-associated
VAR_061285 commonName VAR_061285
VAR_061285 disease not phenotype-associated
VAR_061286 commonName VAR_061286
VAR_061286 disease not phenotype-associated
VAR_061287 commonName VAR_061287
VAR_061287 disease not phenotype-associated
VAR_061288 commonName VAR_061288
VAR_061288 disease not phenotype-associated
VAR_061289 commonName VAR_061289
VAR_061289 disease not phenotype-associated
VAR_061290 commonName VAR_061290
VAR_061290 disease not phenotype-associated
VAR_061291 commonName VAR_061291
VAR_061291 disease not phenotype-associated
VAR_061292 commonName VAR_061292
VAR_061292 disease not phenotype-associated
VAR_061293 commonName VAR_061293
VAR_061293 disease not phenotype-associated
VAR_061294 commonName VAR_061294
VAR_061294 disease not phenotype-associated
VAR_061296 commonName VAR_061296
VAR_061296 disease not phenotype-associated
VAR_061297 commonName VAR_061297
VAR_061297 disease not phenotype-associated
VAR_061299 commonName VAR_061299
VAR_061299 disease not phenotype-associated
VAR_061300 commonName VAR_061300
VAR_061300 disease not phenotype-associated
VAR_061301 commonName VAR_061301
VAR_061301 disease not phenotype-associated
VAR_061302 commonName VAR_061302
VAR_061302 disease not phenotype-associated
VAR_061303 commonName VAR_061303
VAR_061303 disease not phenotype-associated
VAR_061304 commonName VAR_061304
VAR_061304 disease not phenotype-associated
VAR_061305 commonName VAR_061305
VAR_061305 disease not phenotype-associated
VAR_061306 commonName VAR_061306
VAR_061306 disease not phenotype-associated
VAR_061309 commonName VAR_061309
VAR_061309 disease not phenotype-associated
VAR_061310 commonName VAR_061310
VAR_061310 disease not phenotype-associated
VAR_061311 commonName VAR_061311
VAR_061311 disease not phenotype-associated
VAR_061312 commonName VAR_061312
VAR_061312 disease not phenotype-associated
VAR_061313 commonName VAR_061313
VAR_061313 disease not phenotype-associated
VAR_061314 commonName VAR_061314
VAR_061314 disease not phenotype-associated
VAR_061315 commonName VAR_061315
VAR_061315 disease not phenotype-associated
VAR_061316 commonName VAR_061316
VAR_061316 disease not phenotype-associated
VAR_061317 commonName VAR_061317
VAR_061317 disease not phenotype-associated
VAR_061318 commonName VAR_061318
VAR_061318 disease not phenotype-associated
VAR_061319 commonName VAR_061319
VAR_061319 disease not phenotype-associated
VAR_061321 commonName VAR_061321
VAR_061321 disease not phenotype-associated
VAR_061322 commonName VAR_061322
VAR_061322 disease not phenotype-associated
VAR_061323 commonName VAR_061323
VAR_061323 disease not phenotype-associated
VAR_061324 commonName VAR_061324
VAR_061324 disease not phenotype-associated
VAR_061325 commonName VAR_061325
VAR_061325 disease not phenotype-associated
VAR_061326 commonName VAR_061326
VAR_061326 disease not phenotype-associated
VAR_061328 commonName VAR_061328
VAR_061328 disease not phenotype-associated
VAR_061329 commonName VAR_061329
VAR_061329 disease not phenotype-associated
VAR_061330 commonName VAR_061330
VAR_061330 disease not phenotype-associated
VAR_061331 commonName VAR_061331
VAR_061331 disease not phenotype-associated
VAR_061335 commonName VAR_061335
VAR_061335 disease not phenotype-associated
VAR_061336 commonName VAR_061336
VAR_061336 disease not phenotype-associated
VAR_061337 commonName VAR_061337
VAR_061337 disease not phenotype-associated
VAR_061338 commonName VAR_061338
VAR_061338 disease not phenotype-associated
VAR_061340 commonName VAR_061340
VAR_061340 disease not phenotype-associated
VAR_061341 commonName VAR_061341
VAR_061341 disease not phenotype-associated
VAR_061342 commonName VAR_061342
VAR_061342 disease not phenotype-associated
VAR_061343 commonName VAR_061343
VAR_061343 disease not phenotype-associated
VAR_061344 commonName VAR_061344
VAR_061344 disease not phenotype-associated
VAR_061345 commonName VAR_061345
VAR_061345 disease not phenotype-associated
VAR_061347 commonName VAR_061347
VAR_061347 disease not phenotype-associated
VAR_061348 commonName VAR_061348
VAR_061348 disease not phenotype-associated
VAR_061349 commonName VAR_061349
VAR_061349 disease not phenotype-associated
VAR_061350 commonName VAR_061350
VAR_061350 disease not phenotype-associated
VAR_061351 commonName VAR_061351
VAR_061351 disease not phenotype-associated
VAR_061352 commonName VAR_061352
VAR_061352 disease not phenotype-associated
VAR_061353 commonName VAR_061353
VAR_061353 disease not phenotype-associated
VAR_061354 commonName VAR_061354
VAR_061354 disease not phenotype-associated
VAR_061355 commonName VAR_061355
VAR_061355 disease not phenotype-associated
VAR_061356 commonName VAR_061356
VAR_061356 disease not phenotype-associated
VAR_061357 commonName VAR_061357
VAR_061357 disease not phenotype-associated
VAR_061358 commonName VAR_061358
VAR_061358 disease not phenotype-associated
VAR_061359 commonName VAR_061359
VAR_061359 disease not phenotype-associated
VAR_061360 commonName VAR_061360
VAR_061360 disease not phenotype-associated
VAR_061361 commonName VAR_061361
VAR_061361 disease not phenotype-associated
VAR_061362 commonName VAR_061362
VAR_061362 disease not phenotype-associated
VAR_061363 commonName VAR_061363
VAR_061363 disease not phenotype-associated
VAR_061364 commonName VAR_061364
VAR_061364 disease not phenotype-associated
VAR_061365 commonName VAR_061365
VAR_061365 disease not phenotype-associated
VAR_061366 commonName VAR_061366
VAR_061366 disease not phenotype-associated
VAR_061367 commonName VAR_061367
VAR_061367 disease not phenotype-associated
VAR_061369 commonName VAR_061369
VAR_061369 disease not phenotype-associated
VAR_061370 commonName VAR_061370
VAR_061370 disease not phenotype-associated
VAR_061371 commonName VAR_061371
VAR_061371 disease not phenotype-associated
VAR_061372 commonName VAR_061372
VAR_061372 disease not phenotype-associated
VAR_061373 commonName VAR_061373
VAR_061373 disease not phenotype-associated
VAR_061374 commonName VAR_061374
VAR_061374 disease not phenotype-associated
VAR_061375 commonName VAR_061375
VAR_061375 disease not phenotype-associated
VAR_061376 commonName VAR_061376
VAR_061376 disease not phenotype-associated
VAR_061377 commonName VAR_061377
VAR_061377 disease not phenotype-associated
VAR_061378 commonName VAR_061378
VAR_061378 disease not phenotype-associated
VAR_061379 commonName VAR_061379
VAR_061379 disease not phenotype-associated
VAR_061380 commonName VAR_061380
VAR_061380 disease not phenotype-associated
VAR_061382 commonName VAR_061382
VAR_061382 disease not phenotype-associated
VAR_061383 commonName VAR_061383
VAR_061383 disease not phenotype-associated
VAR_061384 commonName VAR_061384
VAR_061384 disease not phenotype-associated
VAR_061385 commonName VAR_061385
VAR_061385 disease not phenotype-associated
VAR_061483 commonName VAR_061483
VAR_061483 disease not phenotype-associated
VAR_061484 commonName VAR_061484
VAR_061484 disease not phenotype-associated
VAR_061485 commonName VAR_061485
VAR_061485 disease not phenotype-associated
VAR_061488 commonName VAR_061488
VAR_061488 disease not phenotype-associated
VAR_061489 commonName VAR_061489
VAR_061489 disease not phenotype-associated
VAR_061490 commonName VAR_061490
VAR_061490 disease not phenotype-associated
VAR_061491 commonName VAR_061491
VAR_061491 disease not phenotype-associated
VAR_061492 commonName VAR_061492
VAR_061492 disease not phenotype-associated
VAR_061493 commonName VAR_061493
VAR_061493 disease not phenotype-associated
VAR_061494 commonName VAR_061494
VAR_061494 disease not phenotype-associated
VAR_061495 commonName VAR_061495
VAR_061495 disease not phenotype-associated
VAR_061496 commonName VAR_061496
VAR_061496 disease not phenotype-associated
VAR_061497 commonName VAR_061497
VAR_061497 disease not phenotype-associated
VAR_061498 commonName VAR_061498
VAR_061498 disease not phenotype-associated
VAR_061499 commonName VAR_061499
VAR_061499 disease not phenotype-associated
VAR_061500 commonName VAR_061500
VAR_061500 disease not phenotype-associated
VAR_061501 commonName VAR_061501
VAR_061501 disease not phenotype-associated
VAR_061502 commonName VAR_061502
VAR_061502 disease not phenotype-associated
VAR_061503 commonName VAR_061503
VAR_061503 disease not phenotype-associated
VAR_061504 commonName VAR_061504
VAR_061504 disease not phenotype-associated
VAR_061505 commonName VAR_061505
VAR_061505 disease not phenotype-associated
VAR_061506 commonName VAR_061506
VAR_061506 disease not phenotype-associated
VAR_061507 commonName VAR_061507
VAR_061507 disease not phenotype-associated
VAR_061508 commonName VAR_061508
VAR_061508 disease not phenotype-associated
VAR_061509 commonName VAR_061509
VAR_061509 disease not phenotype-associated
VAR_061510 commonName VAR_061510
VAR_061510 disease not phenotype-associated
VAR_061511 commonName VAR_061511
VAR_061511 disease not phenotype-associated
VAR_061512 commonName VAR_061512
VAR_061512 disease not phenotype-associated
VAR_061513 commonName VAR_061513
VAR_061513 disease not phenotype-associated
VAR_061514 commonName VAR_061514
VAR_061514 disease not phenotype-associated
VAR_061515 commonName VAR_061515
VAR_061515 disease not phenotype-associated
VAR_061517 commonName VAR_061517
VAR_061517 disease not phenotype-associated
VAR_061520 commonName VAR_061520
VAR_061520 disease not phenotype-associated
VAR_061521 commonName VAR_061521
VAR_061521 disease not phenotype-associated
VAR_061522 commonName VAR_061522
VAR_061522 disease not phenotype-associated
VAR_061523 commonName VAR_061523
VAR_061523 disease not phenotype-associated
VAR_061524 commonName VAR_061524
VAR_061524 disease not phenotype-associated
VAR_061525 commonName VAR_061525
VAR_061525 disease not phenotype-associated
VAR_061526 commonName VAR_061526
VAR_061526 disease not phenotype-associated
VAR_061527 commonName VAR_061527
VAR_061527 disease not phenotype-associated
VAR_061528 commonName VAR_061528
VAR_061528 disease not phenotype-associated
VAR_061529 commonName VAR_061529
VAR_061529 disease not phenotype-associated
VAR_061530 commonName VAR_061530
VAR_061530 disease not phenotype-associated
VAR_061532 commonName VAR_061532
VAR_061532 disease not phenotype-associated
VAR_061533 commonName VAR_061533
VAR_061533 disease not phenotype-associated
VAR_061534 commonName VAR_061534
VAR_061534 disease not phenotype-associated
VAR_061535 commonName VAR_061535
VAR_061535 disease not phenotype-associated
VAR_061536 commonName VAR_061536
VAR_061536 disease not phenotype-associated
VAR_061537 commonName VAR_061537
VAR_061537 disease not phenotype-associated
VAR_061538 commonName VAR_061538
VAR_061538 disease not phenotype-associated
VAR_061539 commonName VAR_061539
VAR_061539 disease not phenotype-associated
VAR_061540 commonName VAR_061540
VAR_061540 disease not phenotype-associated
VAR_061541 commonName VAR_061541
VAR_061541 disease not phenotype-associated
VAR_061542 commonName VAR_061542
VAR_061542 disease not phenotype-associated
VAR_061545 commonName VAR_061545
VAR_061545 disease not phenotype-associated
VAR_061547 commonName VAR_061547
VAR_061547 disease not phenotype-associated
VAR_061548 commonName VAR_061548
VAR_061548 disease not phenotype-associated
VAR_061549 commonName VAR_061549
VAR_061549 disease not phenotype-associated
VAR_061550 commonName VAR_061550
VAR_061550 disease not phenotype-associated
VAR_061551 commonName VAR_061551
VAR_061551 disease not phenotype-associated
VAR_061552 commonName VAR_061552
VAR_061552 disease not phenotype-associated
VAR_061553 commonName VAR_061553
VAR_061553 disease not phenotype-associated
VAR_061554 commonName VAR_061554
VAR_061554 disease not phenotype-associated
VAR_061557 commonName VAR_061557
VAR_061557 disease not phenotype-associated
VAR_061559 commonName VAR_061559
VAR_061559 disease not phenotype-associated
VAR_061560 commonName VAR_061560
VAR_061560 disease not phenotype-associated
VAR_061561 commonName VAR_061561
VAR_061561 disease not phenotype-associated
VAR_061562 commonName VAR_061562
VAR_061562 disease not phenotype-associated
VAR_061563 commonName VAR_061563
VAR_061563 disease not phenotype-associated
VAR_061564 commonName VAR_061564
VAR_061564 disease not phenotype-associated
VAR_061565 commonName VAR_061565
VAR_061565 disease not phenotype-associated
VAR_061566 commonName VAR_061566
VAR_061566 disease not phenotype-associated
VAR_061567 commonName VAR_061567
VAR_061567 disease not phenotype-associated
VAR_061568 commonName VAR_061568
VAR_061568 disease not phenotype-associated
VAR_061569 commonName VAR_061569
VAR_061569 disease not phenotype-associated
VAR_061571 commonName VAR_061571
VAR_061571 disease not phenotype-associated
VAR_061572 commonName VAR_061572
VAR_061572 disease not phenotype-associated
VAR_061574 commonName VAR_061574
VAR_061574 disease not phenotype-associated
VAR_061575 commonName VAR_061575
VAR_061575 disease not phenotype-associated
VAR_061576 commonName VAR_061576
VAR_061576 disease not phenotype-associated
VAR_061577 commonName VAR_061577
VAR_061577 disease not phenotype-associated
VAR_061579 commonName VAR_061579
VAR_061579 disease not phenotype-associated
VAR_061580 commonName VAR_061580
VAR_061580 disease not phenotype-associated
VAR_061581 commonName VAR_061581
VAR_061581 disease not phenotype-associated
VAR_061582 commonName VAR_061582
VAR_061582 disease not phenotype-associated
VAR_061583 commonName VAR_061583
VAR_061583 disease not phenotype-associated
VAR_061584 commonName VAR_061584
VAR_061584 disease not phenotype-associated
VAR_061585 commonName VAR_061585
VAR_061585 disease not phenotype-associated
VAR_061586 commonName VAR_061586
VAR_061586 disease not phenotype-associated
VAR_061587 commonName VAR_061587
VAR_061587 disease not phenotype-associated
VAR_061588 commonName VAR_061588
VAR_061588 disease not phenotype-associated
VAR_061589 commonName VAR_061589
VAR_061589 disease not phenotype-associated
VAR_061590 commonName VAR_061590
VAR_061590 disease not phenotype-associated
VAR_061591 commonName VAR_061591
VAR_061591 disease not phenotype-associated
VAR_061592 commonName VAR_061592
VAR_061592 disease not phenotype-associated
VAR_061593 commonName VAR_061593
VAR_061593 disease not phenotype-associated
VAR_061594 commonName VAR_061594
VAR_061594 disease not phenotype-associated
VAR_061595 commonName VAR_061595
VAR_061595 disease not phenotype-associated
VAR_061596 commonName VAR_061596
VAR_061596 disease not phenotype-associated
VAR_061597 commonName VAR_061597
VAR_061597 disease not phenotype-associated
VAR_061598 commonName VAR_061598
VAR_061598 disease not phenotype-associated
VAR_061599 commonName VAR_061599
VAR_061599 disease not phenotype-associated
VAR_061600 commonName VAR_061600
VAR_061600 disease not phenotype-associated
VAR_061601 commonName VAR_061601
VAR_061601 disease not phenotype-associated
VAR_061602 commonName VAR_061602
VAR_061602 disease not phenotype-associated
VAR_061603 commonName VAR_061603
VAR_061603 disease not phenotype-associated
VAR_061604 commonName VAR_061604
VAR_061604 disease not phenotype-associated
VAR_061605 commonName VAR_061605
VAR_061605 disease not phenotype-associated
VAR_061606 commonName VAR_061606
VAR_061606 disease not phenotype-associated
VAR_061607 commonName VAR_061607
VAR_061607 disease not phenotype-associated
VAR_061608 commonName VAR_061608
VAR_061608 disease not phenotype-associated
VAR_061609 commonName VAR_061609
VAR_061609 disease not phenotype-associated
VAR_061610 commonName VAR_061610
VAR_061610 disease not phenotype-associated
VAR_061611 commonName VAR_061611
VAR_061611 disease not phenotype-associated
VAR_061612 commonName VAR_061612
VAR_061612 disease not phenotype-associated
VAR_061613 commonName VAR_061613
VAR_061613 disease not phenotype-associated
VAR_061614 commonName VAR_061614
VAR_061614 disease not phenotype-associated
VAR_061615 commonName VAR_061615
VAR_061615 disease not phenotype-associated
VAR_061616 commonName VAR_061616
VAR_061616 disease not phenotype-associated
VAR_061617 commonName VAR_061617
VAR_061617 disease not phenotype-associated
VAR_061618 commonName VAR_061618
VAR_061618 disease not phenotype-associated
VAR_061619 commonName VAR_061619
VAR_061619 disease not phenotype-associated
VAR_061620 commonName VAR_061620
VAR_061620 disease not phenotype-associated
VAR_061621 commonName VAR_061621
VAR_061621 disease not phenotype-associated
VAR_061622 commonName VAR_061622
VAR_061622 disease not phenotype-associated
VAR_061623 commonName VAR_061623
VAR_061623 disease not phenotype-associated
VAR_061624 commonName VAR_061624
VAR_061624 disease not phenotype-associated
VAR_061625 commonName VAR_061625
VAR_061625 disease not phenotype-associated
VAR_061626 commonName VAR_061626
VAR_061626 disease not phenotype-associated
VAR_061627 commonName VAR_061627
VAR_061627 disease not phenotype-associated
VAR_061628 commonName VAR_061628
VAR_061628 disease not phenotype-associated
VAR_061629 commonName VAR_061629
VAR_061629 disease not phenotype-associated
VAR_061630 commonName VAR_061630
VAR_061630 disease not phenotype-associated
VAR_061631 commonName VAR_061631
VAR_061631 disease not phenotype-associated
VAR_061632 commonName VAR_061632
VAR_061632 disease not phenotype-associated
VAR_061633 commonName VAR_061633
VAR_061633 disease not phenotype-associated
VAR_061634 commonName VAR_061634
VAR_061634 disease not phenotype-associated
VAR_061635 commonName VAR_061635
VAR_061635 disease not phenotype-associated
VAR_061636 commonName VAR_061636
VAR_061636 disease not phenotype-associated
VAR_061637 commonName VAR_061637
VAR_061637 disease not phenotype-associated
VAR_061638 commonName VAR_061638
VAR_061638 disease not phenotype-associated
VAR_061639 commonName VAR_061639
VAR_061639 disease not phenotype-associated
VAR_061641 commonName VAR_061641
VAR_061641 disease not phenotype-associated
VAR_061642 commonName VAR_061642
VAR_061642 disease not phenotype-associated
VAR_061643 commonName VAR_061643
VAR_061643 disease not phenotype-associated
VAR_061645 commonName VAR_061645
VAR_061645 disease not phenotype-associated
VAR_061646 commonName VAR_061646
VAR_061646 disease not phenotype-associated
VAR_061648 commonName VAR_061648
VAR_061648 disease not phenotype-associated
VAR_061649 commonName VAR_061649
VAR_061649 disease not phenotype-associated
VAR_061650 commonName VAR_061650
VAR_061650 disease not phenotype-associated
VAR_061651 commonName VAR_061651
VAR_061651 disease not phenotype-associated
VAR_061652 commonName VAR_061652
VAR_061652 disease not phenotype-associated
VAR_061653 commonName VAR_061653
VAR_061653 disease not phenotype-associated
VAR_061654 commonName VAR_061654
VAR_061654 disease not phenotype-associated
VAR_061655 commonName VAR_061655
VAR_061655 disease not phenotype-associated
VAR_061656 commonName VAR_061656
VAR_061656 disease not phenotype-associated
VAR_061657 commonName VAR_061657
VAR_061657 disease not phenotype-associated
VAR_061658 commonName VAR_061658
VAR_061658 disease not phenotype-associated
VAR_061659 commonName VAR_061659
VAR_061659 disease not phenotype-associated
VAR_061660 commonName VAR_061660
VAR_061660 disease not phenotype-associated
VAR_061661 commonName VAR_061661
VAR_061661 disease not phenotype-associated
VAR_061662 commonName VAR_061662
VAR_061662 disease not phenotype-associated
VAR_061663 commonName VAR_061663
VAR_061663 disease not phenotype-associated
VAR_061664 commonName VAR_061664
VAR_061664 disease not phenotype-associated
VAR_061665 commonName VAR_061665
VAR_061665 disease not phenotype-associated
VAR_061667 commonName VAR_061667
VAR_061667 disease not phenotype-associated
VAR_061668 commonName VAR_061668
VAR_061668 disease not phenotype-associated
VAR_061669 commonName VAR_061669
VAR_061669 disease not phenotype-associated
VAR_061670 commonName VAR_061670
VAR_061670 disease not phenotype-associated
VAR_061672 commonName VAR_061672
VAR_061672 disease not phenotype-associated
VAR_061673 commonName VAR_061673
VAR_061673 disease not phenotype-associated
VAR_061674 commonName VAR_061674
VAR_061674 disease not phenotype-associated
VAR_061675 commonName VAR_061675
VAR_061675 disease not phenotype-associated
VAR_061676 commonName VAR_061676
VAR_061676 disease not phenotype-associated
VAR_061677 commonName VAR_061677
VAR_061677 disease not phenotype-associated
VAR_061678 commonName VAR_061678
VAR_061678 disease not phenotype-associated
VAR_061679 commonName VAR_061679
VAR_061679 disease not phenotype-associated
VAR_061680 commonName VAR_061680
VAR_061680 disease not phenotype-associated
VAR_061681 commonName VAR_061681
VAR_061681 disease not phenotype-associated
VAR_061682 commonName VAR_061682
VAR_061682 disease not phenotype-associated
VAR_061683 commonName VAR_061683
VAR_061683 disease not phenotype-associated
VAR_061684 commonName VAR_061684
VAR_061684 disease not phenotype-associated
VAR_061685 commonName VAR_061685
VAR_061685 disease not phenotype-associated
VAR_061686 commonName VAR_061686
VAR_061686 disease not phenotype-associated
VAR_061687 commonName VAR_061687
VAR_061687 disease not phenotype-associated
VAR_061688 commonName VAR_061688
VAR_061688 disease not phenotype-associated
VAR_061689 commonName VAR_061689
VAR_061689 disease not phenotype-associated
VAR_061690 commonName VAR_061690
VAR_061690 disease not phenotype-associated
VAR_061691 commonName VAR_061691
VAR_061691 disease not phenotype-associated
VAR_061693 commonName VAR_061693
VAR_061693 disease not phenotype-associated
VAR_061694 commonName VAR_061694
VAR_061694 disease not phenotype-associated
VAR_061695 commonName VAR_061695
VAR_061695 disease not phenotype-associated
VAR_061696 commonName VAR_061696
VAR_061696 disease not phenotype-associated
VAR_061697 commonName VAR_061697
VAR_061697 disease not phenotype-associated
VAR_061698 commonName VAR_061698
VAR_061698 disease not phenotype-associated
VAR_061699 commonName VAR_061699
VAR_061699 disease not phenotype-associated
VAR_061700 commonName VAR_061700
VAR_061700 disease not phenotype-associated
VAR_061701 commonName VAR_061701
VAR_061701 disease not phenotype-associated
VAR_061702 commonName VAR_061702
VAR_061702 disease not phenotype-associated
VAR_061704 commonName VAR_061704
VAR_061704 disease not phenotype-associated
VAR_061706 commonName VAR_061706
VAR_061706 disease not phenotype-associated
VAR_061707 commonName VAR_061707
VAR_061707 disease not phenotype-associated
VAR_061708 commonName VAR_061708
VAR_061708 disease not phenotype-associated
VAR_061709 commonName VAR_061709
VAR_061709 disease not phenotype-associated
VAR_061710 commonName VAR_061710
VAR_061710 disease not phenotype-associated
VAR_061711 commonName VAR_061711
VAR_061711 disease not phenotype-associated
VAR_061712 commonName VAR_061712
VAR_061712 disease not phenotype-associated
VAR_061713 commonName VAR_061713
VAR_061713 disease not phenotype-associated
VAR_061714 commonName VAR_061714
VAR_061714 disease not phenotype-associated
VAR_061715 commonName VAR_061715
VAR_061715 disease not phenotype-associated
VAR_061716 commonName VAR_061716
VAR_061716 disease not phenotype-associated
VAR_061717 commonName VAR_061717
VAR_061717 disease not phenotype-associated
VAR_061719 commonName VAR_061719
VAR_061719 disease not phenotype-associated
VAR_061720 commonName VAR_061720
VAR_061720 disease not phenotype-associated
VAR_061721 commonName VAR_061721
VAR_061721 disease not phenotype-associated
VAR_061722 commonName VAR_061722
VAR_061722 disease not phenotype-associated
VAR_061723 commonName VAR_061723
VAR_061723 disease not phenotype-associated
VAR_061724 commonName VAR_061724
VAR_061724 disease not phenotype-associated
VAR_061725 commonName VAR_061725
VAR_061725 disease not phenotype-associated
VAR_061726 commonName VAR_061726
VAR_061726 disease not phenotype-associated
VAR_061728 commonName VAR_061728
VAR_061728 disease not phenotype-associated
VAR_061729 commonName VAR_061729
VAR_061729 disease not phenotype-associated
VAR_061730 commonName VAR_061730
VAR_061730 disease not phenotype-associated
VAR_061732 commonName VAR_061732
VAR_061732 disease not phenotype-associated
VAR_061733 commonName VAR_061733
VAR_061733 disease not phenotype-associated
VAR_061734 commonName VAR_061734
VAR_061734 disease not phenotype-associated
VAR_061738 commonName VAR_061738
VAR_061738 disease not phenotype-associated
VAR_061739 commonName VAR_061739
VAR_061739 disease not phenotype-associated
VAR_061740 commonName VAR_061740
VAR_061740 disease not phenotype-associated
VAR_061741 commonName VAR_061741
VAR_061741 disease not phenotype-associated
VAR_061742 commonName VAR_061742
VAR_061742 disease not phenotype-associated
VAR_061743 commonName VAR_061743
VAR_061743 disease not phenotype-associated
VAR_061744 commonName VAR_061744
VAR_061744 disease not phenotype-associated
VAR_061745 commonName VAR_061745
VAR_061745 disease not phenotype-associated
VAR_061746 commonName VAR_061746
VAR_061746 disease not phenotype-associated
VAR_061747 commonName VAR_061747
VAR_061747 disease not phenotype-associated
VAR_061748 commonName VAR_061748
VAR_061748 disease not phenotype-associated
VAR_061749 commonName VAR_061749
VAR_061749 disease not phenotype-associated
VAR_061750 commonName VAR_061750
VAR_061750 disease not phenotype-associated
VAR_061751 commonName VAR_061751
VAR_061751 disease not phenotype-associated
VAR_061752 commonName VAR_061752
VAR_061752 disease not phenotype-associated
VAR_061753 commonName VAR_061753
VAR_061753 disease not phenotype-associated
VAR_061754 commonName VAR_061754
VAR_061754 disease not phenotype-associated
VAR_061755 commonName VAR_061755
VAR_061755 disease not phenotype-associated
VAR_061756 commonName VAR_061756
VAR_061756 disease not phenotype-associated
VAR_061757 commonName VAR_061757
VAR_061757 disease not phenotype-associated
VAR_061759 commonName VAR_061759
VAR_061759 disease not phenotype-associated
VAR_061760 commonName VAR_061760
VAR_061760 disease not phenotype-associated
VAR_061761 commonName VAR_061761
VAR_061761 disease not phenotype-associated
VAR_061762 commonName VAR_061762
VAR_061762 disease not phenotype-associated
VAR_061763 commonName VAR_061763
VAR_061763 disease not phenotype-associated
VAR_061765 commonName VAR_061765
VAR_061765 disease not phenotype-associated
VAR_061767 commonName VAR_061767
VAR_061767 disease not phenotype-associated
VAR_061768 commonName VAR_061768
VAR_061768 disease not phenotype-associated
VAR_061769 commonName VAR_061769
VAR_061769 disease not phenotype-associated
VAR_061771 commonName VAR_061771
VAR_061771 disease not phenotype-associated
VAR_061772 commonName VAR_061772
VAR_061772 disease not phenotype-associated
VAR_061773 commonName VAR_061773
VAR_061773 disease not phenotype-associated
VAR_061774 commonName VAR_061774
VAR_061774 disease not phenotype-associated
VAR_061776 commonName VAR_061776
VAR_061776 disease not phenotype-associated
VAR_061778 commonName VAR_061778
VAR_061778 disease not phenotype-associated
VAR_061779 commonName VAR_061779
VAR_061779 disease not phenotype-associated
VAR_061780 commonName VAR_061780
VAR_061780 disease not phenotype-associated
VAR_061781 commonName VAR_061781
VAR_061781 disease not phenotype-associated
VAR_061782 commonName VAR_061782
VAR_061782 disease not phenotype-associated
VAR_061783 commonName VAR_061783
VAR_061783 disease not phenotype-associated
VAR_061784 commonName VAR_061784
VAR_061784 disease not phenotype-associated
VAR_061785 commonName VAR_061785
VAR_061785 disease not phenotype-associated
VAR_061786 commonName VAR_061786
VAR_061786 disease not phenotype-associated
VAR_061788 commonName VAR_061788
VAR_061788 disease not phenotype-associated
VAR_061789 commonName VAR_061789
VAR_061789 disease not phenotype-associated
VAR_061790 commonName VAR_061790
VAR_061790 disease not phenotype-associated
VAR_061791 commonName VAR_061791
VAR_061791 disease not phenotype-associated
VAR_061792 commonName VAR_061792
VAR_061792 disease not phenotype-associated
VAR_061793 commonName VAR_061793
VAR_061793 disease not phenotype-associated
VAR_061794 commonName VAR_061794
VAR_061794 disease not phenotype-associated
VAR_061795 commonName VAR_061795
VAR_061795 disease not phenotype-associated
VAR_061798 commonName VAR_061798
VAR_061798 disease not phenotype-associated
VAR_061799 commonName VAR_061799
VAR_061799 disease not phenotype-associated
VAR_061800 commonName VAR_061800
VAR_061800 disease not phenotype-associated
VAR_061801 commonName VAR_061801
VAR_061801 disease not phenotype-associated
VAR_061802 commonName VAR_061802
VAR_061802 disease not phenotype-associated
VAR_061803 commonName VAR_061803
VAR_061803 disease not phenotype-associated
VAR_061804 commonName VAR_061804
VAR_061804 disease not phenotype-associated
VAR_061805 commonName VAR_061805
VAR_061805 disease not phenotype-associated
VAR_061806 commonName VAR_061806
VAR_061806 disease not phenotype-associated
VAR_061807 commonName VAR_061807
VAR_061807 disease not phenotype-associated
VAR_061808 commonName VAR_061808
VAR_061808 disease not phenotype-associated
VAR_061809 commonName VAR_061809
VAR_061809 disease not phenotype-associated
VAR_061810 commonName VAR_061810
VAR_061810 disease not phenotype-associated
VAR_061811 commonName VAR_061811
VAR_061811 disease not phenotype-associated
VAR_061812 commonName VAR_061812
VAR_061812 disease not phenotype-associated
VAR_061813 commonName VAR_061813
VAR_061813 disease not phenotype-associated
VAR_061814 commonName VAR_061814
VAR_061814 disease not phenotype-associated
VAR_061815 commonName VAR_061815
VAR_061815 disease not phenotype-associated
VAR_061816 commonName VAR_061816
VAR_061816 disease not phenotype-associated
VAR_061817 commonName VAR_061817
VAR_061817 disease not phenotype-associated
VAR_061818 commonName VAR_061818
VAR_061818 disease not phenotype-associated
VAR_061821 commonName VAR_061821
VAR_061821 disease not phenotype-associated
VAR_061823 commonName VAR_061823
VAR_061823 disease not phenotype-associated
VAR_061824 commonName VAR_061824
VAR_061824 disease not phenotype-associated
VAR_061825 commonName VAR_061825
VAR_061825 disease not phenotype-associated
VAR_061826 commonName VAR_061826
VAR_061826 disease not phenotype-associated
VAR_061827 commonName VAR_061827
VAR_061827 disease not phenotype-associated
VAR_061828 commonName VAR_061828
VAR_061828 disease not phenotype-associated
VAR_061829 commonName VAR_061829
VAR_061829 disease not phenotype-associated
VAR_061830 commonName VAR_061830
VAR_061830 disease not phenotype-associated
VAR_061831 commonName VAR_061831
VAR_061831 disease not phenotype-associated
VAR_061833 commonName VAR_061833
VAR_061833 disease not phenotype-associated
VAR_061834 commonName VAR_061834
VAR_061834 disease not phenotype-associated
VAR_061835 commonName VAR_061835
VAR_061835 disease not phenotype-associated
VAR_061836 commonName VAR_061836
VAR_061836 disease not phenotype-associated
VAR_061837 commonName VAR_061837
VAR_061837 disease not phenotype-associated
VAR_061839 commonName VAR_061839
VAR_061839 disease not phenotype-associated
VAR_061841 commonName VAR_061841
VAR_061841 disease not phenotype-associated
VAR_061843 commonName VAR_061843
VAR_061843 disease not phenotype-associated
VAR_061844 commonName VAR_061844
VAR_061844 disease not phenotype-associated
VAR_061845 commonName VAR_061845
VAR_061845 disease not phenotype-associated
VAR_061846 commonName VAR_061846
VAR_061846 disease not phenotype-associated
VAR_061847 commonName VAR_061847
VAR_061847 disease not phenotype-associated
VAR_061848 commonName VAR_061848
VAR_061848 disease not phenotype-associated
VAR_061850 commonName VAR_061850
VAR_061850 disease not phenotype-associated
VAR_061851 commonName VAR_061851
VAR_061851 disease not phenotype-associated
VAR_061852 commonName VAR_061852
VAR_061852 disease not phenotype-associated
VAR_061854 commonName VAR_061854
VAR_061854 disease not phenotype-associated
VAR_061855 commonName VAR_061855
VAR_061855 disease not phenotype-associated
VAR_061856 commonName VAR_061856
VAR_061856 disease not phenotype-associated
VAR_061857 commonName VAR_061857
VAR_061857 disease not phenotype-associated
VAR_061858 commonName VAR_061858
VAR_061858 disease not phenotype-associated
VAR_061859 commonName VAR_061859
VAR_061859 disease not phenotype-associated
VAR_061860 commonName VAR_061860
VAR_061860 disease not phenotype-associated
VAR_061861 commonName VAR_061861
VAR_061861 disease not phenotype-associated
VAR_061863 commonName VAR_061863
VAR_061863 disease not phenotype-associated
VAR_061864 commonName VAR_061864
VAR_061864 disease not phenotype-associated
VAR_061865 commonName VAR_061865
VAR_061865 disease not phenotype-associated
VAR_061866 commonName VAR_061866
VAR_061866 disease not phenotype-associated
VAR_061868 commonName VAR_061868
VAR_061868 disease not phenotype-associated
VAR_061869 commonName VAR_061869
VAR_061869 disease not phenotype-associated
VAR_061870 commonName VAR_061870
VAR_061870 disease not phenotype-associated
VAR_061871 commonName VAR_061871
VAR_061871 disease not phenotype-associated
VAR_061873 commonName VAR_061873
VAR_061873 disease not phenotype-associated
VAR_061874 commonName VAR_061874
VAR_061874 disease not phenotype-associated
VAR_061875 commonName VAR_061875
VAR_061875 disease not phenotype-associated
VAR_061876 commonName VAR_061876
VAR_061876 disease not phenotype-associated
VAR_061877 commonName VAR_061877
VAR_061877 disease not phenotype-associated
VAR_061879 commonName VAR_061879
VAR_061879 disease not phenotype-associated
VAR_061880 commonName VAR_061880
VAR_061880 disease not phenotype-associated
VAR_061881 commonName VAR_061881
VAR_061881 disease not phenotype-associated
VAR_061882 commonName VAR_061882
VAR_061882 disease not phenotype-associated
VAR_061883 commonName VAR_061883
VAR_061883 disease not phenotype-associated
VAR_061885 commonName VAR_061885
VAR_061885 disease not phenotype-associated
VAR_061886 commonName VAR_061886
VAR_061886 disease not phenotype-associated
VAR_061887 commonName VAR_061887
VAR_061887 disease not phenotype-associated
VAR_061888 commonName VAR_061888
VAR_061888 disease not phenotype-associated
VAR_061889 commonName VAR_061889
VAR_061889 disease not phenotype-associated
VAR_061890 commonName VAR_061890
VAR_061890 disease not phenotype-associated
VAR_061891 commonName VAR_061891
VAR_061891 disease not phenotype-associated
VAR_061892 commonName VAR_061892
VAR_061892 disease not phenotype-associated
VAR_061893 commonName VAR_061893
VAR_061893 disease not phenotype-associated
VAR_061896 commonName VAR_061896
VAR_061896 disease not phenotype-associated
VAR_061897 commonName VAR_061897
VAR_061897 disease not phenotype-associated
VAR_061898 commonName VAR_061898
VAR_061898 disease not phenotype-associated
VAR_061899 commonName VAR_061899
VAR_061899 disease not phenotype-associated
VAR_061900 commonName VAR_061900
VAR_061900 disease not phenotype-associated
VAR_061901 commonName VAR_061901
VAR_061901 disease not phenotype-associated
VAR_061902 commonName VAR_061902
VAR_061902 disease not phenotype-associated
VAR_061905 commonName VAR_061905
VAR_061905 disease not phenotype-associated
VAR_061906 commonName VAR_061906
VAR_061906 disease not phenotype-associated
VAR_061907 commonName VAR_061907
VAR_061907 disease not phenotype-associated
VAR_061908 commonName VAR_061908
VAR_061908 disease not phenotype-associated
VAR_061911 commonName VAR_061911
VAR_061911 disease not phenotype-associated
VAR_061912 commonName VAR_061912
VAR_061912 disease not phenotype-associated
VAR_061913 commonName VAR_061913
VAR_061913 disease not phenotype-associated
VAR_061914 commonName VAR_061914
VAR_061914 disease not phenotype-associated
VAR_061915 commonName VAR_061915
VAR_061915 disease not phenotype-associated
VAR_061916 commonName VAR_061916
VAR_061916 disease not phenotype-associated
VAR_061917 commonName VAR_061917
VAR_061917 disease not phenotype-associated
VAR_061918 commonName VAR_061918
VAR_061918 disease not phenotype-associated
VAR_061919 commonName VAR_061919
VAR_061919 disease not phenotype-associated
VAR_061921 commonName VAR_061921
VAR_061921 disease not phenotype-associated
VAR_061922 commonName VAR_061922
VAR_061922 disease not phenotype-associated
VAR_061923 commonName VAR_061923
VAR_061923 disease not phenotype-associated
VAR_061924 commonName VAR_061924
VAR_061924 disease not phenotype-associated
VAR_061925 commonName VAR_061925
VAR_061925 disease not phenotype-associated
VAR_061926 commonName VAR_061926
VAR_061926 disease not phenotype-associated
VAR_061927 commonName VAR_061927
VAR_061927 disease not phenotype-associated
VAR_061928 commonName VAR_061928
VAR_061928 disease not phenotype-associated
VAR_061929 commonName VAR_061929
VAR_061929 disease not phenotype-associated
VAR_061930 commonName VAR_061930
VAR_061930 disease not phenotype-associated
VAR_061931 commonName VAR_061931
VAR_061931 disease not phenotype-associated
VAR_061932 commonName VAR_061932
VAR_061932 disease not phenotype-associated
VAR_061933 commonName VAR_061933
VAR_061933 disease not phenotype-associated
VAR_061934 commonName VAR_061934
VAR_061934 disease not phenotype-associated
VAR_061935 commonName VAR_061935
VAR_061935 disease not phenotype-associated
VAR_061936 commonName VAR_061936
VAR_061936 disease not phenotype-associated
VAR_061937 commonName VAR_061937
VAR_061937 disease not phenotype-associated
VAR_061938 commonName VAR_061938
VAR_061938 disease not phenotype-associated
VAR_061939 commonName VAR_061939
VAR_061939 disease not phenotype-associated
VAR_061940 commonName VAR_061940
VAR_061940 disease not phenotype-associated
VAR_061941 commonName VAR_061941
VAR_061941 disease not phenotype-associated
VAR_061942 commonName VAR_061942
VAR_061942 disease not phenotype-associated
VAR_061943 commonName VAR_061943
VAR_061943 disease not phenotype-associated
VAR_061944 commonName VAR_061944
VAR_061944 disease not phenotype-associated
VAR_061945 commonName VAR_061945
VAR_061945 disease not phenotype-associated
VAR_061946 commonName VAR_061946
VAR_061946 disease not phenotype-associated
VAR_061947 commonName VAR_061947
VAR_061947 disease not phenotype-associated
VAR_061948 commonName VAR_061948
VAR_061948 disease not phenotype-associated
VAR_061949 commonName VAR_061949
VAR_061949 disease not phenotype-associated
VAR_061950 commonName VAR_061950
VAR_061950 disease not phenotype-associated
VAR_061951 commonName VAR_061951
VAR_061951 disease not phenotype-associated
VAR_061952 commonName VAR_061952
VAR_061952 disease not phenotype-associated
VAR_061953 commonName VAR_061953
VAR_061953 disease not phenotype-associated
VAR_061954 commonName VAR_061954
VAR_061954 disease not phenotype-associated
VAR_061955 commonName VAR_061955
VAR_061955 disease not phenotype-associated
VAR_061956 commonName VAR_061956
VAR_061956 disease not phenotype-associated
VAR_061957 commonName VAR_061957
VAR_061957 disease not phenotype-associated
VAR_061959 commonName VAR_061959
VAR_061959 disease not phenotype-associated
VAR_061960 commonName VAR_061960
VAR_061960 disease not phenotype-associated
VAR_061961 commonName VAR_061961
VAR_061961 disease not phenotype-associated
VAR_061962 commonName VAR_061962
VAR_061962 disease not phenotype-associated
VAR_061963 commonName VAR_061963
VAR_061963 disease not phenotype-associated
VAR_061964 commonName VAR_061964
VAR_061964 disease not phenotype-associated
VAR_061966 commonName VAR_061966
VAR_061966 disease not phenotype-associated
VAR_061968 commonName VAR_061968
VAR_061968 disease not phenotype-associated
VAR_061969 commonName VAR_061969
VAR_061969 disease not phenotype-associated
VAR_061977 commonName VAR_061977
VAR_061977 disease not phenotype-associated
VAR_061978 commonName VAR_061978
VAR_061978 disease not phenotype-associated
VAR_061979 commonName VAR_061979
VAR_061979 disease not phenotype-associated
VAR_061982 commonName VAR_061982
VAR_061982 disease not phenotype-associated
VAR_061983 commonName VAR_061983
VAR_061983 disease not phenotype-associated
VAR_061984 commonName VAR_061984
VAR_061984 disease not phenotype-associated
VAR_061985 commonName VAR_061985
VAR_061985 disease not phenotype-associated
VAR_061986 commonName VAR_061986
VAR_061986 disease not phenotype-associated
VAR_061987 commonName VAR_061987
VAR_061987 disease not phenotype-associated
VAR_061988 commonName VAR_061988
VAR_061988 disease not phenotype-associated
VAR_061989 commonName VAR_061989
VAR_061989 disease not phenotype-associated
VAR_061991 commonName VAR_061991
VAR_061991 disease not phenotype-associated
VAR_061992 commonName VAR_061992
VAR_061992 disease not phenotype-associated
VAR_061993 commonName VAR_061993
VAR_061993 disease not phenotype-associated
VAR_061994 commonName VAR_061994
VAR_061994 disease not phenotype-associated
VAR_061996 commonName VAR_061996
VAR_061996 disease not phenotype-associated
VAR_061997 commonName VAR_061997
VAR_061997 disease not phenotype-associated
VAR_061998 commonName VAR_061998
VAR_061998 disease not phenotype-associated
VAR_061999 commonName VAR_061999
VAR_061999 disease not phenotype-associated
VAR_062000 commonName VAR_062000
VAR_062000 disease not phenotype-associated
VAR_062001 commonName VAR_062001
VAR_062001 disease not phenotype-associated
VAR_062002 commonName VAR_062002
VAR_062002 disease not phenotype-associated
VAR_062003 commonName VAR_062003
VAR_062003 disease not phenotype-associated
VAR_062004 commonName VAR_062004
VAR_062004 disease not phenotype-associated
VAR_062005 commonName VAR_062005
VAR_062005 disease not phenotype-associated
VAR_062006 commonName VAR_062006
VAR_062006 disease not phenotype-associated
VAR_062007 commonName VAR_062007
VAR_062007 disease not phenotype-associated
VAR_062008 commonName VAR_062008
VAR_062008 disease not phenotype-associated
VAR_062009 commonName VAR_062009
VAR_062009 disease not phenotype-associated
VAR_062010 commonName VAR_062010
VAR_062010 disease not phenotype-associated
VAR_062011 commonName VAR_062011
VAR_062011 disease not phenotype-associated
VAR_062012 commonName VAR_062012
VAR_062012 disease not phenotype-associated
VAR_062013 commonName VAR_062013
VAR_062013 disease not phenotype-associated
VAR_062014 commonName VAR_062014
VAR_062014 disease not phenotype-associated
VAR_062015 commonName VAR_062015
VAR_062015 disease not phenotype-associated
VAR_062016 commonName VAR_062016
VAR_062016 disease not phenotype-associated
VAR_062017 commonName VAR_062017
VAR_062017 disease not phenotype-associated
VAR_062018 commonName VAR_062018
VAR_062018 disease not phenotype-associated
VAR_062019 commonName VAR_062019
VAR_062019 disease not phenotype-associated
VAR_062020 commonName VAR_062020
VAR_062020 disease not phenotype-associated
VAR_062021 commonName VAR_062021
VAR_062021 disease not phenotype-associated
VAR_062022 commonName VAR_062022
VAR_062022 disease not phenotype-associated
VAR_062023 commonName VAR_062023
VAR_062023 disease not phenotype-associated
VAR_062024 commonName VAR_062024
VAR_062024 disease not phenotype-associated
VAR_062025 commonName VAR_062025
VAR_062025 disease not phenotype-associated
VAR_062026 commonName VAR_062026
VAR_062026 disease not phenotype-associated
VAR_062027 commonName VAR_062027
VAR_062027 disease not phenotype-associated
VAR_062028 commonName VAR_062028
VAR_062028 disease not phenotype-associated
VAR_062029 commonName VAR_062029
VAR_062029 disease not phenotype-associated
VAR_062030 commonName VAR_062030
VAR_062030 disease not phenotype-associated
VAR_062031 commonName VAR_062031
VAR_062031 disease not phenotype-associated
VAR_062032 commonName VAR_062032
VAR_062032 disease not phenotype-associated
VAR_062033 commonName VAR_062033
VAR_062033 disease not phenotype-associated
VAR_062034 commonName VAR_062034
VAR_062034 disease not phenotype-associated
VAR_062035 commonName VAR_062035
VAR_062035 disease not phenotype-associated
VAR_062036 commonName VAR_062036
VAR_062036 disease not phenotype-associated
VAR_062037 commonName VAR_062037
VAR_062037 disease not phenotype-associated
VAR_062038 commonName VAR_062038
VAR_062038 disease not phenotype-associated
VAR_062039 commonName VAR_062039
VAR_062039 disease not phenotype-associated
VAR_062040 commonName VAR_062040
VAR_062040 disease not phenotype-associated
VAR_062041 commonName VAR_062041
VAR_062041 disease not phenotype-associated
VAR_062042 commonName VAR_062042
VAR_062042 disease not phenotype-associated
VAR_062043 commonName VAR_062043
VAR_062043 disease not phenotype-associated
VAR_062044 commonName VAR_062044
VAR_062044 disease not phenotype-associated
VAR_062045 commonName VAR_062045
VAR_062045 disease not phenotype-associated
VAR_062046 commonName VAR_062046
VAR_062046 disease not phenotype-associated
VAR_062047 commonName VAR_062047
VAR_062047 disease not phenotype-associated
VAR_062048 commonName VAR_062048
VAR_062048 disease not phenotype-associated
VAR_062049 commonName VAR_062049
VAR_062049 disease not phenotype-associated
VAR_062050 commonName VAR_062050
VAR_062050 disease not phenotype-associated
VAR_062051 commonName VAR_062051
VAR_062051 disease not phenotype-associated
VAR_062052 commonName VAR_062052
VAR_062052 disease not phenotype-associated
VAR_062053 commonName VAR_062053
VAR_062053 disease not phenotype-associated
VAR_062054 commonName VAR_062054
VAR_062054 disease not phenotype-associated
VAR_062055 commonName VAR_062055
VAR_062055 disease not phenotype-associated
VAR_062056 commonName VAR_062056
VAR_062056 disease not phenotype-associated
VAR_062057 commonName VAR_062057
VAR_062057 disease not phenotype-associated
VAR_062058 commonName VAR_062058
VAR_062058 disease not phenotype-associated
VAR_062059 commonName VAR_062059
VAR_062059 disease not phenotype-associated
VAR_062060 commonName VAR_062060
VAR_062060 disease not phenotype-associated
VAR_062061 commonName VAR_062061
VAR_062061 disease not phenotype-associated
VAR_062062 commonName VAR_062062
VAR_062062 disease not phenotype-associated
VAR_062063 commonName VAR_062063
VAR_062063 disease not phenotype-associated
VAR_062064 commonName VAR_062064
VAR_062064 disease not phenotype-associated
VAR_062065 commonName VAR_062065
VAR_062065 disease not phenotype-associated
VAR_062066 commonName VAR_062066
VAR_062066 disease not phenotype-associated
VAR_062067 commonName VAR_062067
VAR_062067 disease not phenotype-associated
VAR_062068 commonName VAR_062068
VAR_062068 disease not phenotype-associated
VAR_062069 commonName VAR_062069
VAR_062069 disease not phenotype-associated
VAR_062070 commonName VAR_062070
VAR_062070 disease not phenotype-associated
VAR_062071 commonName VAR_062071
VAR_062071 disease not phenotype-associated
VAR_062072 commonName VAR_062072
VAR_062072 disease not phenotype-associated
VAR_062073 commonName VAR_062073
VAR_062073 disease not phenotype-associated
VAR_062074 commonName VAR_062074
VAR_062074 disease not phenotype-associated
VAR_062075 commonName VAR_062075
VAR_062075 disease not phenotype-associated
VAR_062076 commonName VAR_062076
VAR_062076 disease not phenotype-associated
VAR_062077 commonName VAR_062077
VAR_062077 disease not phenotype-associated
VAR_062078 commonName VAR_062078
VAR_062078 disease not phenotype-associated
VAR_062079 commonName VAR_062079
VAR_062079 disease not phenotype-associated
VAR_062080 commonName VAR_062080
VAR_062080 disease not phenotype-associated
VAR_062082 commonName VAR_062082
VAR_062082 disease not phenotype-associated
VAR_062083 commonName VAR_062083
VAR_062083 disease not phenotype-associated
VAR_062084 commonName VAR_062084
VAR_062084 disease not phenotype-associated
VAR_062085 commonName VAR_062085
VAR_062085 disease not phenotype-associated
VAR_062086 commonName VAR_062086
VAR_062086 disease not phenotype-associated
VAR_062087 commonName VAR_062087
VAR_062087 disease not phenotype-associated
VAR_062088 commonName VAR_062088
VAR_062088 disease not phenotype-associated
VAR_062089 commonName VAR_062089
VAR_062089 disease not phenotype-associated
VAR_062090 commonName VAR_062090
VAR_062090 disease not phenotype-associated
VAR_062091 commonName VAR_062091
VAR_062091 disease not phenotype-associated
VAR_062092 commonName VAR_062092
VAR_062092 disease not phenotype-associated
VAR_062093 commonName VAR_062093
VAR_062093 disease not phenotype-associated
VAR_062094 commonName VAR_062094
VAR_062094 disease not phenotype-associated
VAR_062095 commonName VAR_062095
VAR_062095 disease not phenotype-associated
VAR_062096 commonName VAR_062096
VAR_062096 disease not phenotype-associated
VAR_062098 commonName VAR_062098
VAR_062098 disease not phenotype-associated
VAR_062099 commonName VAR_062099
VAR_062099 disease not phenotype-associated
VAR_062101 commonName VAR_062101
VAR_062101 disease not phenotype-associated
VAR_062102 commonName VAR_062102
VAR_062102 disease not phenotype-associated
VAR_062103 commonName VAR_062103
VAR_062103 disease not phenotype-associated
VAR_062104 commonName VAR_062104
VAR_062104 disease not phenotype-associated
VAR_062105 commonName VAR_062105
VAR_062105 disease not phenotype-associated
VAR_062106 commonName VAR_062106
VAR_062106 disease not phenotype-associated
VAR_062110 commonName VAR_062110
VAR_062110 disease not phenotype-associated
VAR_062111 commonName VAR_062111
VAR_062111 disease not phenotype-associated
VAR_062112 commonName VAR_062112
VAR_062112 disease not phenotype-associated
VAR_062113 commonName VAR_062113
VAR_062113 disease not phenotype-associated
VAR_062114 commonName VAR_062114
VAR_062114 disease not phenotype-associated
VAR_062115 commonName VAR_062115
VAR_062115 disease not phenotype-associated
VAR_062116 commonName VAR_062116
VAR_062116 disease not phenotype-associated
VAR_062117 commonName VAR_062117
VAR_062117 disease not phenotype-associated
VAR_062118 commonName VAR_062118
VAR_062118 disease not phenotype-associated
VAR_062119 commonName VAR_062119
VAR_062119 disease not phenotype-associated
VAR_062120 commonName VAR_062120
VAR_062120 disease not phenotype-associated
VAR_062121 commonName VAR_062121
VAR_062121 disease not phenotype-associated
VAR_062122 commonName VAR_062122
VAR_062122 disease not phenotype-associated
VAR_062123 commonName VAR_062123
VAR_062123 disease not phenotype-associated
VAR_062124 commonName VAR_062124
VAR_062124 disease not phenotype-associated
VAR_062125 commonName VAR_062125
VAR_062125 disease not phenotype-associated
VAR_062126 commonName VAR_062126
VAR_062126 disease not phenotype-associated
VAR_062127 commonName VAR_062127
VAR_062127 disease not phenotype-associated
VAR_062128 commonName VAR_062128
VAR_062128 disease not phenotype-associated
VAR_062129 commonName VAR_062129
VAR_062129 disease not phenotype-associated
VAR_062131 commonName VAR_062131
VAR_062131 disease not phenotype-associated
VAR_062132 commonName VAR_062132
VAR_062132 disease not phenotype-associated
VAR_062133 commonName VAR_062133
VAR_062133 disease not phenotype-associated
VAR_062136 commonName VAR_062136
VAR_062136 disease not phenotype-associated
VAR_062137 commonName VAR_062137
VAR_062137 disease not phenotype-associated
VAR_062138 commonName VAR_062138
VAR_062138 disease not phenotype-associated
VAR_062139 commonName VAR_062139
VAR_062139 disease not phenotype-associated
VAR_062140 commonName VAR_062140
VAR_062140 disease not phenotype-associated
VAR_062141 commonName VAR_062141
VAR_062141 disease not phenotype-associated
VAR_062142 commonName VAR_062142
VAR_062142 disease not phenotype-associated
VAR_062143 commonName VAR_062143
VAR_062143 disease not phenotype-associated
VAR_062145 commonName VAR_062145
VAR_062145 disease not phenotype-associated
VAR_062146 commonName VAR_062146
VAR_062146 disease not phenotype-associated
VAR_062147 commonName VAR_062147
VAR_062147 disease not phenotype-associated
VAR_062148 commonName VAR_062148
VAR_062148 disease not phenotype-associated
VAR_062149 commonName VAR_062149
VAR_062149 disease not phenotype-associated
VAR_062150 commonName VAR_062150
VAR_062150 disease not phenotype-associated
VAR_062151 commonName VAR_062151
VAR_062151 disease not phenotype-associated
VAR_062152 commonName VAR_062152
VAR_062152 disease not phenotype-associated
VAR_062153 commonName VAR_062153
VAR_062153 disease not phenotype-associated
VAR_062154 commonName VAR_062154
VAR_062154 disease not phenotype-associated
VAR_062155 commonName VAR_062155
VAR_062155 disease not phenotype-associated
VAR_062156 commonName VAR_062156
VAR_062156 disease not phenotype-associated
VAR_062157 commonName VAR_062157
VAR_062157 disease not phenotype-associated
VAR_062158 commonName VAR_062158
VAR_062158 disease not phenotype-associated
VAR_062160 commonName VAR_062160
VAR_062160 disease not phenotype-associated
VAR_062161 commonName VAR_062161
VAR_062161 disease not phenotype-associated
VAR_062162 commonName VAR_062162
VAR_062162 disease not phenotype-associated
VAR_062163 commonName VAR_062163
VAR_062163 disease not phenotype-associated
VAR_062164 commonName VAR_062164
VAR_062164 disease not phenotype-associated
VAR_062165 commonName VAR_062165
VAR_062165 disease not phenotype-associated
VAR_062166 commonName VAR_062166
VAR_062166 disease not phenotype-associated
VAR_062167 commonName VAR_062167
VAR_062167 disease not phenotype-associated
VAR_062168 commonName VAR_062168
VAR_062168 disease not phenotype-associated
VAR_062169 commonName VAR_062169
VAR_062169 disease not phenotype-associated
VAR_062170 commonName VAR_062170
VAR_062170 disease not phenotype-associated
VAR_062171 commonName VAR_062171
VAR_062171 disease not phenotype-associated
VAR_062172 commonName VAR_062172
VAR_062172 disease not phenotype-associated
VAR_062173 commonName VAR_062173
VAR_062173 disease not phenotype-associated
VAR_062174 commonName VAR_062174
VAR_062174 disease not phenotype-associated
VAR_062175 commonName VAR_062175
VAR_062175 disease not phenotype-associated
VAR_062177 commonName VAR_062177
VAR_062177 disease not phenotype-associated
VAR_062181 commonName VAR_062181
VAR_062181 disease not phenotype-associated
VAR_062182 commonName VAR_062182
VAR_062182 disease not phenotype-associated
VAR_062183 commonName VAR_062183
VAR_062183 disease not phenotype-associated
VAR_062184 commonName VAR_062184
VAR_062184 disease not phenotype-associated
VAR_062185 commonName VAR_062185
VAR_062185 disease not phenotype-associated
VAR_062186 commonName VAR_062186
VAR_062186 disease not phenotype-associated
VAR_062187 commonName VAR_062187
VAR_062187 disease not phenotype-associated
VAR_062188 commonName VAR_062188
VAR_062188 disease not phenotype-associated
VAR_062189 commonName VAR_062189
VAR_062189 disease not phenotype-associated
VAR_062190 commonName VAR_062190
VAR_062190 disease not phenotype-associated
VAR_062191 commonName VAR_062191
VAR_062191 disease not phenotype-associated
VAR_062192 commonName VAR_062192
VAR_062192 disease not phenotype-associated
VAR_062193 commonName VAR_062193
VAR_062193 disease not phenotype-associated
VAR_062194 commonName VAR_062194
VAR_062194 disease not phenotype-associated
VAR_062195 commonName VAR_062195
VAR_062195 disease not phenotype-associated
VAR_062196 commonName VAR_062196
VAR_062196 disease not phenotype-associated
VAR_062197 commonName VAR_062197
VAR_062197 disease not phenotype-associated
VAR_062198 commonName VAR_062198
VAR_062198 disease not phenotype-associated
VAR_062199 commonName VAR_062199
VAR_062199 disease not phenotype-associated
VAR_062201 commonName VAR_062201
VAR_062201 disease not phenotype-associated
VAR_062202 commonName VAR_062202
VAR_062202 disease not phenotype-associated
VAR_062203 commonName VAR_062203
VAR_062203 disease not phenotype-associated
VAR_062204 commonName VAR_062204
VAR_062204 disease not phenotype-associated
VAR_062205 commonName VAR_062205
VAR_062205 disease not phenotype-associated
VAR_062206 commonName VAR_062206
VAR_062206 disease not phenotype-associated
VAR_062208 commonName VAR_062208
VAR_062208 disease not phenotype-associated
VAR_062209 commonName VAR_062209
VAR_062209 disease not phenotype-associated
VAR_062210 commonName VAR_062210
VAR_062210 disease not phenotype-associated
VAR_062211 commonName VAR_062211
VAR_062211 disease not phenotype-associated
VAR_062212 commonName VAR_062212
VAR_062212 disease not phenotype-associated
VAR_062213 commonName VAR_062213
VAR_062213 disease not phenotype-associated
VAR_062215 commonName VAR_062215
VAR_062215 disease not phenotype-associated
VAR_062216 commonName VAR_062216
VAR_062216 disease not phenotype-associated
VAR_062217 commonName VAR_062217
VAR_062217 disease not phenotype-associated
VAR_062218 commonName VAR_062218
VAR_062218 disease not phenotype-associated
VAR_062219 commonName VAR_062219
VAR_062219 disease not phenotype-associated
VAR_062220 commonName VAR_062220
VAR_062220 disease not phenotype-associated
VAR_062221 commonName VAR_062221
VAR_062221 disease not phenotype-associated
VAR_062222 commonName VAR_062222
VAR_062222 disease not phenotype-associated
VAR_062223 commonName VAR_062223
VAR_062223 disease not phenotype-associated
VAR_062224 commonName VAR_062224
VAR_062224 disease not phenotype-associated
VAR_062225 commonName VAR_062225
VAR_062225 disease not phenotype-associated
VAR_062226 commonName VAR_062226
VAR_062226 disease not phenotype-associated
VAR_062227 commonName VAR_062227
VAR_062227 disease not phenotype-associated
VAR_062228 commonName VAR_062228
VAR_062228 disease not phenotype-associated
VAR_062229 commonName VAR_062229
VAR_062229 disease not phenotype-associated
VAR_062230 commonName VAR_062230
VAR_062230 disease not phenotype-associated
VAR_062231 commonName VAR_062231
VAR_062231 disease not phenotype-associated
VAR_062233 commonName VAR_062233
VAR_062233 disease not phenotype-associated
VAR_062234 commonName VAR_062234
VAR_062234 disease not phenotype-associated
VAR_062235 commonName VAR_062235
VAR_062235 disease not phenotype-associated
VAR_062236 commonName VAR_062236
VAR_062236 disease not phenotype-associated
VAR_062237 commonName VAR_062237
VAR_062237 disease not phenotype-associated
VAR_062238 commonName VAR_062238
VAR_062238 disease not phenotype-associated
VAR_062241 commonName VAR_062241
VAR_062241 disease not phenotype-associated
VAR_062243 commonName VAR_062243
VAR_062243 disease not phenotype-associated
VAR_062244 commonName VAR_062244
VAR_062244 disease not phenotype-associated
VAR_062245 commonName VAR_062245
VAR_062245 disease not phenotype-associated
VAR_062246 commonName VAR_062246
VAR_062246 disease not phenotype-associated
VAR_062247 commonName VAR_062247
VAR_062247 disease not phenotype-associated
VAR_062248 commonName VAR_062248
VAR_062248 disease not phenotype-associated
VAR_062249 commonName VAR_062249
VAR_062249 disease not phenotype-associated
VAR_062250 commonName VAR_062250
VAR_062250 disease phenotype-associated
VAR_062250 phenoCommon Mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:300263]
VAR_062251 commonName VAR_062251
VAR_062251 disease not phenotype-associated
VAR_062252 commonName VAR_062252
VAR_062252 disease not phenotype-associated
VAR_062253 commonName VAR_062253
VAR_062253 disease not phenotype-associated
VAR_062255 commonName VAR_062255
VAR_062255 disease not phenotype-associated
VAR_062256 commonName VAR_062256
VAR_062256 disease not phenotype-associated
VAR_062257 commonName VAR_062257
VAR_062257 disease not phenotype-associated
VAR_062258 commonName VAR_062258
VAR_062258 disease not phenotype-associated
VAR_062259 commonName VAR_062259
VAR_062259 disease phenotype-associated
VAR_062259 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738]
VAR_062260 commonName VAR_062260
VAR_062260 disease not phenotype-associated
VAR_062261 commonName VAR_062261
VAR_062261 disease not phenotype-associated
VAR_062262 commonName VAR_062262
VAR_062262 disease not phenotype-associated
VAR_062263 commonName VAR_062263
VAR_062263 disease not phenotype-associated
VAR_062264 commonName VAR_062264
VAR_062264 disease not phenotype-associated
VAR_062265 commonName VAR_062265
VAR_062265 disease not phenotype-associated
VAR_062266 commonName VAR_062266
VAR_062266 disease not phenotype-associated
VAR_062267 commonName VAR_062267
VAR_062267 disease not phenotype-associated
VAR_062268 commonName VAR_062268
VAR_062268 disease not phenotype-associated
VAR_062269 commonName VAR_062269
VAR_062269 disease not phenotype-associated
VAR_062270 commonName VAR_062270
VAR_062270 disease not phenotype-associated
VAR_062271 commonName VAR_062271
VAR_062271 disease not phenotype-associated
VAR_062272 commonName VAR_062272
VAR_062272 disease not phenotype-associated
VAR_062273 commonName VAR_062273
VAR_062273 disease not phenotype-associated
VAR_062274 commonName VAR_062274
VAR_062274 disease not phenotype-associated
VAR_062275 commonName VAR_062275
VAR_062275 disease not phenotype-associated
VAR_062276 commonName VAR_062276
VAR_062276 disease not phenotype-associated
VAR_062277 commonName VAR_062277
VAR_062277 disease not phenotype-associated
VAR_062279 commonName VAR_062279
VAR_062279 disease not phenotype-associated
VAR_062280 commonName VAR_062280
VAR_062280 disease phenotype-associated
VAR_062280 phenoCommon Glycogen storage disease type 14 (GSD14) [MIM:612934]
VAR_062281 commonName VAR_062281
VAR_062281 disease phenotype-associated
VAR_062281 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]
VAR_062282 commonName VAR_062282
VAR_062282 disease phenotype-associated
VAR_062282 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]
VAR_062283 commonName VAR_062283
VAR_062283 disease phenotype-associated
VAR_062283 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]
VAR_062284 commonName VAR_062284
VAR_062284 disease not phenotype-associated
VAR_062285 commonName VAR_062285
VAR_062285 disease phenotype-associated
VAR_062285 phenoCommon Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:614074]
VAR_062287 commonName VAR_062287
VAR_062287 disease not phenotype-associated
VAR_062288 commonName VAR_062288
VAR_062288 disease phenotype-associated
VAR_062288 phenoCommon Meckel syndrome type 1 (MKS1) [MIM:249000]
VAR_062289 commonName VAR_062289
VAR_062289 disease not phenotype-associated
VAR_062293 commonName VAR_062293
VAR_062293 disease phenotype-associated
VAR_062293 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_062293 phenoCommon Meckel syndrome type 6 (MKS6) [MIM:612284]
VAR_062294 commonName VAR_062294
VAR_062294 disease phenotype-associated
VAR_062294 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062295 commonName VAR_062295
VAR_062295 disease not phenotype-associated
VAR_062296 commonName VAR_062296
VAR_062296 disease phenotype-associated
VAR_062296 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062297 commonName VAR_062297
VAR_062298 commonName VAR_062298
VAR_062298 disease not phenotype-associated
VAR_062299 commonName VAR_062299
VAR_062299 disease not phenotype-associated
VAR_062300 commonName VAR_062300
VAR_062300 disease phenotype-associated
VAR_062300 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062301 commonName VAR_062301
VAR_062301 disease not phenotype-associated
VAR_062302 commonName VAR_062302
VAR_062302 disease not phenotype-associated
VAR_062303 commonName VAR_062303
VAR_062303 disease not phenotype-associated
VAR_062304 commonName VAR_062304
VAR_062304 disease not phenotype-associated
VAR_062305 commonName VAR_062305
VAR_062305 disease phenotype-associated
VAR_062305 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062306 commonName VAR_062306
VAR_062306 disease not phenotype-associated
VAR_062307 commonName VAR_062307
VAR_062307 disease phenotype-associated
VAR_062307 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062308 commonName VAR_062308
VAR_062308 disease phenotype-associated
VAR_062308 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062309 commonName VAR_062309
VAR_062309 disease phenotype-associated
VAR_062309 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]
VAR_062310 commonName VAR_062310
VAR_062310 disease phenotype-associated
VAR_062310 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062311 commonName VAR_062311
VAR_062311 disease not phenotype-associated
VAR_062312 commonName VAR_062312
VAR_062312 disease phenotype-associated
VAR_062312 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062313 commonName VAR_062313
VAR_062313 disease phenotype-associated
VAR_062313 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_062313 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062314 commonName VAR_062314
VAR_062314 disease not phenotype-associated
VAR_062315 commonName VAR_062315
VAR_062315 disease phenotype-associated
VAR_062315 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062316 commonName VAR_062316
VAR_062316 disease not phenotype-associated
VAR_062317 commonName VAR_062317
VAR_062317 disease not phenotype-associated
VAR_062318 commonName VAR_062318
VAR_062318 disease phenotype-associated
VAR_062318 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_062318 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062319 commonName VAR_062319
VAR_062319 disease phenotype-associated
VAR_062319 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_062319 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062319 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550]
VAR_062320 commonName VAR_062320
VAR_062320 disease phenotype-associated
VAR_062320 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361]
VAR_062321 commonName VAR_062321
VAR_062321 disease not phenotype-associated
VAR_062322 commonName VAR_062322
VAR_062322 disease phenotype-associated
VAR_062322 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_062323 commonName VAR_062323
VAR_062323 disease phenotype-associated
VAR_062323 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_062324 commonName VAR_062324
VAR_062324 disease not phenotype-associated
VAR_062325 commonName VAR_062325
VAR_062325 disease phenotype-associated
VAR_062325 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_062326 commonName VAR_062326
VAR_062326 disease phenotype-associated
VAR_062326 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_062327 commonName VAR_062327
VAR_062327 disease not phenotype-associated
VAR_062328 commonName VAR_062328
VAR_062328 disease not phenotype-associated
VAR_062329 commonName VAR_062329
VAR_062329 disease phenotype-associated
VAR_062329 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_062330 commonName VAR_062330
VAR_062330 disease not phenotype-associated
VAR_062331 commonName VAR_062331
VAR_062331 disease phenotype-associated
VAR_062331 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_062332 commonName VAR_062332
VAR_062332 disease phenotype-associated
VAR_062332 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_062333 commonName VAR_062333
VAR_062333 disease phenotype-associated
VAR_062333 phenoCommon Parastremmatic dwarfism (PSTD) [MIM:168400]
VAR_062333 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_062334 commonName VAR_062334
VAR_062334 disease phenotype-associated
VAR_062334 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_062335 commonName VAR_062335
VAR_062335 disease phenotype-associated
VAR_062335 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_062336 commonName VAR_062336
VAR_062336 disease phenotype-associated
VAR_062336 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_062337 commonName VAR_062337
VAR_062337 disease phenotype-associated
VAR_062337 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_062338 commonName VAR_062338
VAR_062338 disease phenotype-associated
VAR_062338 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410]
VAR_062339 commonName VAR_062339
VAR_062339 disease phenotype-associated
VAR_062339 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320]
VAR_062340 commonName VAR_062340
VAR_062340 disease phenotype-associated
VAR_062340 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_062341 commonName VAR_062341
VAR_062341 disease phenotype-associated
VAR_062341 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_062342 commonName VAR_062342
VAR_062342 disease phenotype-associated
VAR_062342 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_062343 commonName VAR_062343
VAR_062343 disease phenotype-associated
VAR_062343 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062344 commonName VAR_062344
VAR_062344 disease phenotype-associated
VAR_062344 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062345 commonName VAR_062345
VAR_062345 disease phenotype-associated
VAR_062345 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062346 commonName VAR_062346
VAR_062346 disease phenotype-associated
VAR_062346 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_062347 commonName VAR_062347
VAR_062347 disease phenotype-associated
VAR_062347 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062348 commonName VAR_062348
VAR_062348 disease phenotype-associated
VAR_062348 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062349 commonName VAR_062349
VAR_062349 disease phenotype-associated
VAR_062349 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062350 commonName VAR_062350
VAR_062350 disease phenotype-associated
VAR_062350 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062351 commonName VAR_062351
VAR_062351 disease phenotype-associated
VAR_062351 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062352 commonName VAR_062352
VAR_062352 disease phenotype-associated
VAR_062352 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062353 commonName VAR_062353
VAR_062353 disease phenotype-associated
VAR_062353 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062354 commonName VAR_062354
VAR_062354 disease phenotype-associated
VAR_062354 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062355 commonName VAR_062355
VAR_062355 disease phenotype-associated
VAR_062355 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_062356 commonName VAR_062356
VAR_062356 disease phenotype-associated
VAR_062356 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062357 commonName VAR_062357
VAR_062357 disease phenotype-associated
VAR_062357 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062358 commonName VAR_062358
VAR_062358 disease phenotype-associated
VAR_062358 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062359 commonName VAR_062359
VAR_062359 disease phenotype-associated
VAR_062359 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]
VAR_062360 commonName VAR_062360
VAR_062360 disease phenotype-associated
VAR_062360 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062361 commonName VAR_062361
VAR_062361 disease phenotype-associated
VAR_062361 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062362 commonName VAR_062362
VAR_062362 disease phenotype-associated
VAR_062362 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062363 commonName VAR_062363
VAR_062363 disease phenotype-associated
VAR_062363 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]
VAR_062364 commonName VAR_062364
VAR_062364 disease phenotype-associated
VAR_062364 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062365 commonName VAR_062365
VAR_062365 disease phenotype-associated
VAR_062365 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062366 commonName VAR_062366
VAR_062366 disease phenotype-associated
VAR_062366 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062367 commonName VAR_062367
VAR_062367 disease phenotype-associated
VAR_062367 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062368 commonName VAR_062368
VAR_062368 disease phenotype-associated
VAR_062368 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062369 commonName VAR_062369
VAR_062369 disease phenotype-associated
VAR_062369 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]
VAR_062370 commonName VAR_062370
VAR_062370 disease phenotype-associated
VAR_062370 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]
VAR_062371 commonName VAR_062371
VAR_062371 disease phenotype-associated
VAR_062371 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062372 commonName VAR_062372
VAR_062372 disease phenotype-associated
VAR_062372 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062373 commonName VAR_062373
VAR_062373 disease phenotype-associated
VAR_062373 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062374 commonName VAR_062374
VAR_062374 disease phenotype-associated
VAR_062374 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062375 commonName VAR_062375
VAR_062375 disease phenotype-associated
VAR_062375 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062376 commonName VAR_062376
VAR_062376 disease phenotype-associated
VAR_062376 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062377 commonName VAR_062377
VAR_062377 disease phenotype-associated
VAR_062377 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062378 commonName VAR_062378
VAR_062378 disease phenotype-associated
VAR_062378 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062379 commonName VAR_062379
VAR_062379 disease phenotype-associated
VAR_062379 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062380 commonName VAR_062380
VAR_062380 disease phenotype-associated
VAR_062380 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062381 commonName VAR_062381
VAR_062381 disease phenotype-associated
VAR_062381 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062382 commonName VAR_062382
VAR_062382 disease phenotype-associated
VAR_062382 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_062384 commonName VAR_062384
VAR_062384 disease not phenotype-associated
VAR_062386 commonName VAR_062386
VAR_062386 disease not phenotype-associated
VAR_062387 commonName VAR_062387
VAR_062388 commonName VAR_062388
VAR_062388 disease not phenotype-associated
VAR_062389 commonName VAR_062389
VAR_062389 disease not phenotype-associated
VAR_062390 commonName VAR_062390
VAR_062390 disease not phenotype-associated
VAR_062391 commonName VAR_062391
VAR_062391 disease not phenotype-associated
VAR_062392 commonName VAR_062392
VAR_062392 disease not phenotype-associated
VAR_062394 commonName VAR_062394
VAR_062394 disease phenotype-associated
VAR_062394 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_062395 commonName VAR_062395
VAR_062395 disease phenotype-associated
VAR_062395 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_062396 commonName VAR_062396
VAR_062396 disease phenotype-associated
VAR_062396 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_062398 commonName VAR_062398
VAR_062398 disease phenotype-associated
VAR_062398 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000]
VAR_062399 commonName VAR_062399
VAR_062399 disease phenotype-associated
VAR_062399 phenoCommon Long QT syndrome type 12 (LQT12) [MIM:612955]
VAR_062400 commonName VAR_062400
VAR_062400 disease phenotype-associated
VAR_062400 phenoCommon Long QT syndrome type 12 (LQT12) [MIM:612955]
VAR_062401 commonName VAR_062401
VAR_062401 disease phenotype-associated
VAR_062401 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062402 commonName VAR_062402
VAR_062402 disease phenotype-associated
VAR_062402 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062403 commonName VAR_062403
VAR_062403 disease phenotype-associated
VAR_062403 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062404 commonName VAR_062404
VAR_062404 disease phenotype-associated
VAR_062404 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062405 commonName VAR_062405
VAR_062405 disease phenotype-associated
VAR_062405 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062406 commonName VAR_062406
VAR_062406 disease phenotype-associated
VAR_062406 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062407 commonName VAR_062407
VAR_062407 disease phenotype-associated
VAR_062407 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]
VAR_062408 commonName VAR_062408
VAR_062408 disease phenotype-associated
VAR_062408 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093]
VAR_062409 commonName VAR_062409
VAR_062409 disease phenotype-associated
VAR_062409 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093]
VAR_062410 commonName VAR_062410
VAR_062410 disease phenotype-associated
VAR_062410 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093]
VAR_062411 commonName VAR_062411
VAR_062411 disease not phenotype-associated
VAR_062412 commonName VAR_062412
VAR_062412 disease phenotype-associated
VAR_062412 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062413 commonName VAR_062413
VAR_062413 disease phenotype-associated
VAR_062413 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062414 commonName VAR_062414
VAR_062414 disease phenotype-associated
VAR_062414 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062415 commonName VAR_062415
VAR_062415 disease phenotype-associated
VAR_062415 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062416 commonName VAR_062416
VAR_062416 disease phenotype-associated
VAR_062416 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062417 commonName VAR_062417
VAR_062417 disease phenotype-associated
VAR_062417 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062418 commonName VAR_062418
VAR_062418 disease phenotype-associated
VAR_062418 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062419 commonName VAR_062419
VAR_062419 disease phenotype-associated
VAR_062419 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062420 commonName VAR_062420
VAR_062420 disease phenotype-associated
VAR_062420 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062421 commonName VAR_062421
VAR_062421 disease phenotype-associated
VAR_062421 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750]
VAR_062422 commonName VAR_062422
VAR_062422 disease not phenotype-associated
VAR_062423 commonName VAR_062423
VAR_062423 disease not phenotype-associated
VAR_062424 commonName VAR_062424
VAR_062424 disease phenotype-associated
VAR_062424 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062425 commonName VAR_062425
VAR_062425 disease phenotype-associated
VAR_062425 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062426 commonName VAR_062426
VAR_062426 disease phenotype-associated
VAR_062426 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062427 commonName VAR_062427
VAR_062427 disease phenotype-associated
VAR_062427 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062428 commonName VAR_062428
VAR_062428 disease phenotype-associated
VAR_062428 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062429 commonName VAR_062429
VAR_062429 disease phenotype-associated
VAR_062429 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062430 commonName VAR_062430
VAR_062430 disease phenotype-associated
VAR_062430 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062431 commonName VAR_062431
VAR_062431 disease phenotype-associated
VAR_062431 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062432 commonName VAR_062432
VAR_062432 disease phenotype-associated
VAR_062432 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062433 commonName VAR_062433
VAR_062433 disease phenotype-associated
VAR_062433 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062434 commonName VAR_062434
VAR_062434 disease phenotype-associated
VAR_062434 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062435 commonName VAR_062435
VAR_062435 disease phenotype-associated
VAR_062435 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062436 commonName VAR_062436
VAR_062436 disease phenotype-associated
VAR_062436 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062437 commonName VAR_062437
VAR_062437 disease phenotype-associated
VAR_062437 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062438 commonName VAR_062438
VAR_062438 disease phenotype-associated
VAR_062438 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062439 commonName VAR_062439
VAR_062439 disease phenotype-associated
VAR_062439 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062440 commonName VAR_062440
VAR_062440 disease phenotype-associated
VAR_062440 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062441 commonName VAR_062441
VAR_062441 disease phenotype-associated
VAR_062441 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062442 commonName VAR_062442
VAR_062442 disease phenotype-associated
VAR_062442 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062443 commonName VAR_062443
VAR_062443 disease phenotype-associated
VAR_062443 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062444 commonName VAR_062444
VAR_062444 disease phenotype-associated
VAR_062444 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062445 commonName VAR_062445
VAR_062445 disease phenotype-associated
VAR_062445 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062446 commonName VAR_062446
VAR_062446 disease phenotype-associated
VAR_062446 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062447 commonName VAR_062447
VAR_062447 disease phenotype-associated
VAR_062447 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062448 commonName VAR_062448
VAR_062448 disease phenotype-associated
VAR_062448 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062449 commonName VAR_062449
VAR_062449 disease phenotype-associated
VAR_062449 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062450 commonName VAR_062450
VAR_062450 disease phenotype-associated
VAR_062450 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062451 commonName VAR_062451
VAR_062451 disease phenotype-associated
VAR_062451 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062452 commonName VAR_062452
VAR_062452 disease phenotype-associated
VAR_062452 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062453 commonName VAR_062453
VAR_062453 disease phenotype-associated
VAR_062453 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062454 commonName VAR_062454
VAR_062454 disease phenotype-associated
VAR_062454 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062455 commonName VAR_062455
VAR_062455 disease phenotype-associated
VAR_062455 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062456 commonName VAR_062456
VAR_062456 disease phenotype-associated
VAR_062456 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062457 commonName VAR_062457
VAR_062457 disease phenotype-associated
VAR_062457 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062458 commonName VAR_062458
VAR_062458 disease phenotype-associated
VAR_062458 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062459 commonName VAR_062459
VAR_062459 disease phenotype-associated
VAR_062459 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062460 commonName VAR_062460
VAR_062460 disease phenotype-associated
VAR_062460 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062461 commonName VAR_062461
VAR_062461 disease phenotype-associated
VAR_062461 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062462 commonName VAR_062462
VAR_062462 disease phenotype-associated
VAR_062462 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062463 commonName VAR_062463
VAR_062463 disease phenotype-associated
VAR_062463 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062464 commonName VAR_062464
VAR_062464 disease phenotype-associated
VAR_062464 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062465 commonName VAR_062465
VAR_062465 disease phenotype-associated
VAR_062465 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062466 commonName VAR_062466
VAR_062466 disease phenotype-associated
VAR_062466 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062467 commonName VAR_062467
VAR_062467 disease phenotype-associated
VAR_062467 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062468 commonName VAR_062468
VAR_062468 disease phenotype-associated
VAR_062468 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062469 commonName VAR_062469
VAR_062469 disease phenotype-associated
VAR_062469 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062470 commonName VAR_062470
VAR_062470 disease phenotype-associated
VAR_062470 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062471 commonName VAR_062471
VAR_062471 disease phenotype-associated
VAR_062471 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062472 commonName VAR_062472
VAR_062472 disease phenotype-associated
VAR_062472 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062473 commonName VAR_062473
VAR_062473 disease phenotype-associated
VAR_062473 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062474 commonName VAR_062474
VAR_062474 disease phenotype-associated
VAR_062474 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062475 commonName VAR_062475
VAR_062475 disease phenotype-associated
VAR_062475 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062476 commonName VAR_062476
VAR_062476 disease phenotype-associated
VAR_062476 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062477 commonName VAR_062477
VAR_062477 disease phenotype-associated
VAR_062477 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062478 commonName VAR_062478
VAR_062478 disease phenotype-associated
VAR_062478 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062479 commonName VAR_062479
VAR_062479 disease phenotype-associated
VAR_062479 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800]
VAR_062480 commonName VAR_062480
VAR_062480 disease phenotype-associated
VAR_062480 phenoCommon Bowen-Conradi syndrome (BWCNS) [MIM:211180]
VAR_062481 commonName VAR_062481
VAR_062481 disease not phenotype-associated
VAR_062482 commonName VAR_062482
VAR_062482 disease phenotype-associated
VAR_062482 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062483 commonName VAR_062483
VAR_062483 disease not phenotype-associated
VAR_062484 commonName VAR_062484
VAR_062484 disease not phenotype-associated
VAR_062485 commonName VAR_062485
VAR_062485 disease phenotype-associated
VAR_062485 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062486 commonName VAR_062486
VAR_062487 commonName VAR_062487
VAR_062487 disease phenotype-associated
VAR_062487 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062488 commonName VAR_062488
VAR_062489 commonName VAR_062489
VAR_062489 disease not phenotype-associated
VAR_062490 commonName VAR_062490
VAR_062491 commonName VAR_062491
VAR_062491 disease phenotype-associated
VAR_062491 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062492 commonName VAR_062492
VAR_062492 disease not phenotype-associated
VAR_062493 commonName VAR_062493
VAR_062493 disease phenotype-associated
VAR_062493 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062494 commonName VAR_062494
VAR_062494 disease not phenotype-associated
VAR_062495 commonName VAR_062495
VAR_062496 commonName VAR_062496
VAR_062496 disease not phenotype-associated
VAR_062497 commonName VAR_062497
VAR_062497 disease phenotype-associated
VAR_062497 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062498 commonName VAR_062498
VAR_062499 commonName VAR_062499
VAR_062500 commonName VAR_062500
VAR_062501 commonName VAR_062501
VAR_062501 disease phenotype-associated
VAR_062501 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062502 commonName VAR_062502
VAR_062502 disease phenotype-associated
VAR_062502 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062503 commonName VAR_062503
VAR_062503 disease phenotype-associated
VAR_062503 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
VAR_062504 commonName VAR_062504
VAR_062504 disease phenotype-associated
VAR_062504 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062505 commonName VAR_062505
VAR_062506 commonName VAR_062506
VAR_062507 commonName VAR_062507
VAR_062507 disease phenotype-associated
VAR_062507 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
VAR_062508 commonName VAR_062508
VAR_062508 disease not phenotype-associated
VAR_062509 commonName VAR_062509
VAR_062510 commonName VAR_062510
VAR_062510 disease phenotype-associated
VAR_062510 phenoCommon Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
VAR_062511 commonName VAR_062511
VAR_062511 disease phenotype-associated
VAR_062511 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_062511 phenoCommon Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]
VAR_062512 commonName VAR_062512
VAR_062512 disease not phenotype-associated
VAR_062513 commonName VAR_062513
VAR_062514 commonName VAR_062514
VAR_062514 disease not phenotype-associated
VAR_062515 commonName VAR_062515
VAR_062515 disease not phenotype-associated
VAR_062516 commonName VAR_062516
VAR_062516 disease phenotype-associated
VAR_062516 phenoCommon Split-hand/foot malformation type 6 (SHFM6) [MIM:225300]
VAR_062517 commonName VAR_062517
VAR_062518 commonName VAR_062518
VAR_062518 disease phenotype-associated
VAR_062518 phenoCommon Congenital disorder of glycosylation type 1O (CDG1O) [MIM:612937]
VAR_062519 commonName VAR_062519
VAR_062519 disease phenotype-associated
VAR_062519 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087]
VAR_062520 commonName VAR_062520
VAR_062520 disease phenotype-associated
VAR_062520 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087]
VAR_062521 commonName VAR_062521
VAR_062521 disease phenotype-associated
VAR_062521 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087]
VAR_062522 commonName VAR_062522
VAR_062522 disease not phenotype-associated
VAR_062523 commonName VAR_062523
VAR_062524 commonName VAR_062524
VAR_062525 commonName VAR_062525
VAR_062525 disease not phenotype-associated
VAR_062526 commonName VAR_062526
VAR_062526 disease not phenotype-associated
VAR_062527 commonName VAR_062527
VAR_062527 disease not phenotype-associated
VAR_062528 commonName VAR_062528
VAR_062528 disease not phenotype-associated
VAR_062529 commonName VAR_062529
VAR_062529 disease phenotype-associated
VAR_062529 phenoCommon Brugada syndrome type 7 (BRGDA7) [MIM:613120]
VAR_062530 commonName VAR_062530
VAR_062530 disease phenotype-associated
VAR_062530 phenoCommon Parkinson disease type 14 (PARK14) [MIM:612953]
VAR_062531 commonName VAR_062531
VAR_062531 disease phenotype-associated
VAR_062531 phenoCommon Parkinson disease type 14 (PARK14) [MIM:612953]
VAR_062532 commonName VAR_062532
VAR_062532 disease phenotype-associated
VAR_062532 phenoCommon Cataract cortical age-related type 2 (ARCC2) [MIM:613020]
VAR_062533 commonName VAR_062533
VAR_062533 disease not phenotype-associated
VAR_062534 commonName VAR_062534
VAR_062534 disease not phenotype-associated
VAR_062535 commonName VAR_062535
VAR_062536 commonName VAR_062536
VAR_062537 commonName VAR_062537
VAR_062538 commonName VAR_062538
VAR_062538 disease phenotype-associated
VAR_062538 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989]
VAR_062539 commonName VAR_062539
VAR_062540 commonName VAR_062540
VAR_062540 disease phenotype-associated
VAR_062540 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989]
VAR_062541 commonName VAR_062541
VAR_062541 disease phenotype-associated
VAR_062541 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989]
VAR_062542 commonName VAR_062542
VAR_062542 disease phenotype-associated
VAR_062542 phenoCommon Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989]
VAR_062543 commonName VAR_062543
VAR_062545 commonName VAR_062545
VAR_062545 disease phenotype-associated
VAR_062545 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_062546 commonName VAR_062546
VAR_062546 disease phenotype-associated
VAR_062546 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_062547 commonName VAR_062547
VAR_062547 disease phenotype-associated
VAR_062547 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_062548 comment Granulosa-cell tumors of the ovary
VAR_062548 commonName VAR_062548
VAR_062549 commonName VAR_062549
VAR_062549 disease phenotype-associated
VAR_062549 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
VAR_062551 commonName VAR_062551
VAR_062551 disease phenotype-associated
VAR_062551 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062552 commonName VAR_062552
VAR_062552 disease phenotype-associated
VAR_062552 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062553 commonName VAR_062553
VAR_062553 disease phenotype-associated
VAR_062553 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062554 commonName VAR_062554
VAR_062554 disease phenotype-associated
VAR_062554 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062555 commonName VAR_062555
VAR_062555 disease phenotype-associated
VAR_062555 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062556 commonName VAR_062556
VAR_062556 disease phenotype-associated
VAR_062556 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062557 commonName VAR_062557
VAR_062557 disease phenotype-associated
VAR_062557 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062558 commonName VAR_062558
VAR_062558 disease phenotype-associated
VAR_062558 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062559 commonName VAR_062559
VAR_062559 disease phenotype-associated
VAR_062559 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062560 commonName VAR_062560
VAR_062560 disease phenotype-associated
VAR_062560 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062561 commonName VAR_062561
VAR_062561 disease phenotype-associated
VAR_062561 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062562 commonName VAR_062562
VAR_062562 disease phenotype-associated
VAR_062562 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062563 commonName VAR_062563
VAR_062563 disease phenotype-associated
VAR_062563 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062564 commonName VAR_062564
VAR_062564 disease phenotype-associated
VAR_062564 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062565 commonName VAR_062565
VAR_062565 disease phenotype-associated
VAR_062565 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062566 commonName VAR_062566
VAR_062566 disease phenotype-associated
VAR_062566 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062567 commonName VAR_062567
VAR_062567 disease phenotype-associated
VAR_062567 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062568 commonName VAR_062568
VAR_062568 disease phenotype-associated
VAR_062568 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062569 commonName VAR_062569
VAR_062569 disease phenotype-associated
VAR_062569 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062570 commonName VAR_062570
VAR_062570 disease phenotype-associated
VAR_062570 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062571 commonName VAR_062571
VAR_062571 disease phenotype-associated
VAR_062571 phenoCommon Fabry disease (FD) [MIM:301500]
VAR_062572 commonName VAR_062572
VAR_062572 disease phenotype-associated
VAR_062572 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]
VAR_062573 commonName VAR_062573
VAR_062573 disease phenotype-associated
VAR_062573 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]
VAR_062574 commonName VAR_062574
VAR_062574 disease phenotype-associated
VAR_062574 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482]
VAR_062575 commonName VAR_062575
VAR_062575 disease phenotype-associated
VAR_062575 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482]
VAR_062576 commonName VAR_062576
VAR_062576 disease phenotype-associated
VAR_062576 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_062577 commonName VAR_062577
VAR_062577 disease phenotype-associated
VAR_062577 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_062578 commonName VAR_062578
VAR_062578 disease phenotype-associated
VAR_062578 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_062579 commonName VAR_062579
VAR_062579 disease phenotype-associated
VAR_062579 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_062580 commonName VAR_062580
VAR_062580 disease phenotype-associated
VAR_062580 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_062581 commonName VAR_062581
VAR_062581 disease phenotype-associated
VAR_062581 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
VAR_062582 commonName VAR_062582
VAR_062583 commonName VAR_062583
VAR_062584 commonName VAR_062584
VAR_062584 disease phenotype-associated
VAR_062584 phenoCommon Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]
VAR_062585 commonName VAR_062585
VAR_062585 disease phenotype-associated
VAR_062585 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062586 commonName VAR_062586
VAR_062586 disease phenotype-associated
VAR_062586 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062587 commonName VAR_062587
VAR_062587 disease phenotype-associated
VAR_062587 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062588 commonName VAR_062588
VAR_062588 disease phenotype-associated
VAR_062588 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062589 commonName VAR_062589
VAR_062589 disease phenotype-associated
VAR_062589 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062590 commonName VAR_062590
VAR_062590 disease phenotype-associated
VAR_062590 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
VAR_062591 commonName VAR_062591
VAR_062591 disease phenotype-associated
VAR_062591 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
VAR_062592 commonName VAR_062592
VAR_062592 disease phenotype-associated
VAR_062592 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062593 commonName VAR_062593
VAR_062593 disease phenotype-associated
VAR_062593 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062594 commonName VAR_062594
VAR_062594 disease phenotype-associated
VAR_062594 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062595 commonName VAR_062595
VAR_062595 disease phenotype-associated
VAR_062595 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062596 commonName VAR_062596
VAR_062596 disease phenotype-associated
VAR_062596 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062597 commonName VAR_062597
VAR_062597 disease phenotype-associated
VAR_062597 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062598 commonName VAR_062598
VAR_062598 disease phenotype-associated
VAR_062598 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062599 commonName VAR_062599
VAR_062599 disease phenotype-associated
VAR_062599 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062600 commonName VAR_062600
VAR_062600 disease phenotype-associated
VAR_062600 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062601 commonName VAR_062601
VAR_062601 disease phenotype-associated
VAR_062601 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062602 commonName VAR_062602
VAR_062602 disease phenotype-associated
VAR_062602 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062603 commonName VAR_062603
VAR_062603 disease phenotype-associated
VAR_062603 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062604 commonName VAR_062604
VAR_062604 disease phenotype-associated
VAR_062604 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062605 commonName VAR_062605
VAR_062605 disease phenotype-associated
VAR_062605 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062606 commonName VAR_062606
VAR_062606 disease phenotype-associated
VAR_062606 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062607 commonName VAR_062607
VAR_062607 disease phenotype-associated
VAR_062607 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062608 commonName VAR_062608
VAR_062608 disease phenotype-associated
VAR_062608 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062609 commonName VAR_062609
VAR_062609 disease phenotype-associated
VAR_062609 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062610 commonName VAR_062610
VAR_062610 disease phenotype-associated
VAR_062610 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062611 commonName VAR_062611
VAR_062611 disease phenotype-associated
VAR_062611 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062612 commonName VAR_062612
VAR_062612 disease phenotype-associated
VAR_062612 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062613 commonName VAR_062613
VAR_062613 disease phenotype-associated
VAR_062613 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062615 commonName VAR_062615
VAR_062615 disease phenotype-associated
VAR_062615 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062616 commonName VAR_062616
VAR_062616 disease phenotype-associated
VAR_062616 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062617 commonName VAR_062617
VAR_062617 disease phenotype-associated
VAR_062617 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062618 commonName VAR_062618
VAR_062618 disease phenotype-associated
VAR_062618 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062619 commonName VAR_062619
VAR_062619 disease phenotype-associated
VAR_062619 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062620 commonName VAR_062620
VAR_062620 disease phenotype-associated
VAR_062620 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062621 commonName VAR_062621
VAR_062621 disease phenotype-associated
VAR_062621 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062622 commonName VAR_062622
VAR_062622 disease phenotype-associated
VAR_062622 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062623 commonName VAR_062623
VAR_062623 disease phenotype-associated
VAR_062623 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062624 commonName VAR_062624
VAR_062624 disease phenotype-associated
VAR_062624 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062625 commonName VAR_062625
VAR_062625 disease phenotype-associated
VAR_062625 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062626 commonName VAR_062626
VAR_062626 disease phenotype-associated
VAR_062626 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062627 commonName VAR_062627
VAR_062627 disease phenotype-associated
VAR_062627 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062628 commonName VAR_062628
VAR_062628 disease phenotype-associated
VAR_062628 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062629 commonName VAR_062629
VAR_062629 disease phenotype-associated
VAR_062629 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062630 commonName VAR_062630
VAR_062630 disease phenotype-associated
VAR_062630 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062631 commonName VAR_062631
VAR_062631 disease phenotype-associated
VAR_062631 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062632 commonName VAR_062632
VAR_062632 disease phenotype-associated
VAR_062632 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062633 commonName VAR_062633
VAR_062633 disease phenotype-associated
VAR_062633 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062634 commonName VAR_062634
VAR_062634 disease phenotype-associated
VAR_062634 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062635 commonName VAR_062635
VAR_062635 disease phenotype-associated
VAR_062635 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062636 commonName VAR_062636
VAR_062636 disease phenotype-associated
VAR_062636 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062637 commonName VAR_062637
VAR_062637 disease phenotype-associated
VAR_062637 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062638 commonName VAR_062638
VAR_062638 disease phenotype-associated
VAR_062638 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062639 commonName VAR_062639
VAR_062639 disease phenotype-associated
VAR_062639 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945]
VAR_062649 commonName VAR_062649
VAR_062649 disease phenotype-associated
VAR_062649 phenoCommon Urocanase deficiency (UROD) [MIM:276880]
VAR_062651 commonName VAR_062651
VAR_062651 disease phenotype-associated
VAR_062651 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062652 commonName VAR_062652
VAR_062652 disease phenotype-associated
VAR_062652 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062653 commonName VAR_062653
VAR_062653 disease phenotype-associated
VAR_062653 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062654 commonName VAR_062654
VAR_062654 disease phenotype-associated
VAR_062654 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062655 commonName VAR_062655
VAR_062655 disease phenotype-associated
VAR_062655 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062656 commonName VAR_062656
VAR_062656 disease phenotype-associated
VAR_062656 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062657 commonName VAR_062657
VAR_062657 disease phenotype-associated
VAR_062657 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062658 commonName VAR_062658
VAR_062658 disease phenotype-associated
VAR_062658 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062659 commonName VAR_062659
VAR_062659 disease phenotype-associated
VAR_062659 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062660 commonName VAR_062660
VAR_062660 disease phenotype-associated
VAR_062660 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
VAR_062662 comment A pancreatic ductal adenocarcinoma sample
VAR_062662 commonName VAR_062662
VAR_062663 comment A pancreatic ductal adenocarcinoma sample
VAR_062663 commonName VAR_062663
VAR_062664 comment A pancreatic ductal adenocarcinoma sample
VAR_062664 commonName VAR_062664
VAR_062665 comment A pancreatic ductal adenocarcinoma sample
VAR_062665 commonName VAR_062665
VAR_062666 comment A pancreatic ductal adenocarcinoma sample
VAR_062666 commonName VAR_062666
VAR_062667 comment A pancreatic ductal adenocarcinoma sample
VAR_062667 commonName VAR_062667
VAR_062668 comment A pancreatic ductal adenocarcinoma sample
VAR_062668 commonName VAR_062668
VAR_062669 comment A pancreatic ductal adenocarcinoma sample
VAR_062669 commonName VAR_062669
VAR_062671 commonName VAR_062671
VAR_062671 disease not phenotype-associated
VAR_062674 commonName VAR_062674
VAR_062674 disease phenotype-associated
VAR_062674 phenoCommon Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]
VAR_062675 commonName VAR_062675
VAR_062675 disease phenotype-associated
VAR_062675 phenoCommon Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]
VAR_062676 commonName VAR_062676
VAR_062676 disease not phenotype-associated
VAR_062677 commonName VAR_062677
VAR_062677 disease not phenotype-associated
VAR_062678 commonName VAR_062678
VAR_062678 disease not phenotype-associated
VAR_062758 commonName VAR_062758
VAR_062758 disease phenotype-associated
VAR_062758 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]
VAR_062759 commonName VAR_062759
VAR_062759 disease phenotype-associated
VAR_062759 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]
VAR_062760 commonName VAR_062760
VAR_062760 disease phenotype-associated
VAR_062760 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]
VAR_062761 commonName VAR_062761
VAR_062761 disease phenotype-associated
VAR_062761 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]
VAR_062766 commonName VAR_062766
VAR_062766 disease not phenotype-associated
VAR_062767 commonName VAR_062767
VAR_062767 disease phenotype-associated
VAR_062767 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_062768 commonName VAR_062768
VAR_062769 commonName VAR_062769
VAR_062770 commonName VAR_062770
VAR_062771 commonName VAR_062771
VAR_062772 commonName VAR_062772
VAR_062773 commonName VAR_062773
VAR_062773 disease phenotype-associated
VAR_062773 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062774 commonName VAR_062774
VAR_062774 disease phenotype-associated
VAR_062774 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062775 commonName VAR_062775
VAR_062775 disease phenotype-associated
VAR_062775 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062776 commonName VAR_062776
VAR_062776 disease phenotype-associated
VAR_062776 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062777 commonName VAR_062777
VAR_062777 disease phenotype-associated
VAR_062777 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062778 commonName VAR_062778
VAR_062778 disease phenotype-associated
VAR_062778 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062779 commonName VAR_062779
VAR_062779 disease phenotype-associated
VAR_062779 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_062780 commonName VAR_062780
VAR_062781 commonName VAR_062781
VAR_062782 commonName VAR_062782
VAR_062783 commonName VAR_062783
VAR_062784 commonName VAR_062784
VAR_062786 commonName VAR_062786
VAR_062786 disease phenotype-associated
VAR_062786 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062787 commonName VAR_062787
VAR_062787 disease phenotype-associated
VAR_062787 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062788 commonName VAR_062788
VAR_062788 disease phenotype-associated
VAR_062788 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062791 commonName VAR_062791
VAR_062791 disease phenotype-associated
VAR_062791 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062792 commonName VAR_062792
VAR_062792 disease phenotype-associated
VAR_062792 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062793 commonName VAR_062793
VAR_062793 disease phenotype-associated
VAR_062793 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062795 commonName VAR_062795
VAR_062795 disease phenotype-associated
VAR_062795 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062796 commonName VAR_062796
VAR_062796 disease phenotype-associated
VAR_062796 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062797 commonName VAR_062797
VAR_062797 disease phenotype-associated
VAR_062797 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062798 commonName VAR_062798
VAR_062798 disease phenotype-associated
VAR_062798 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062799 commonName VAR_062799
VAR_062799 disease phenotype-associated
VAR_062799 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062800 commonName VAR_062800
VAR_062800 disease phenotype-associated
VAR_062800 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062801 commonName VAR_062801
VAR_062801 disease phenotype-associated
VAR_062801 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062802 commonName VAR_062802
VAR_062802 disease phenotype-associated
VAR_062802 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062803 commonName VAR_062803
VAR_062803 disease phenotype-associated
VAR_062803 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_062804 commonName VAR_062804
VAR_062804 disease phenotype-associated
VAR_062804 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_062805 commonName VAR_062805
VAR_062805 disease not phenotype-associated
VAR_062806 commonName VAR_062806
VAR_062806 disease phenotype-associated
VAR_062806 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_062807 commonName VAR_062807
VAR_062807 disease phenotype-associated
VAR_062807 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062808 commonName VAR_062808
VAR_062808 disease phenotype-associated
VAR_062808 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062809 commonName VAR_062809
VAR_062809 disease phenotype-associated
VAR_062809 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062810 commonName VAR_062810
VAR_062810 disease phenotype-associated
VAR_062810 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062811 commonName VAR_062811
VAR_062811 disease phenotype-associated
VAR_062811 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062812 commonName VAR_062812
VAR_062812 disease phenotype-associated
VAR_062812 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062813 commonName VAR_062813
VAR_062813 disease phenotype-associated
VAR_062813 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062814 commonName VAR_062814
VAR_062814 disease phenotype-associated
VAR_062814 phenoCommon Mucolipidosis type II (MLII) [MIM:252500]
VAR_062815 commonName VAR_062815
VAR_062815 disease phenotype-associated
VAR_062815 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]
VAR_062816 commonName VAR_062816
VAR_062816 disease not phenotype-associated
VAR_062817 commonName VAR_062817
VAR_062817 disease not phenotype-associated
VAR_062850 commonName VAR_062850
VAR_062850 disease not phenotype-associated
VAR_062851 commonName VAR_062851
VAR_062851 disease not phenotype-associated
VAR_062852 commonName VAR_062852
VAR_062852 disease not phenotype-associated
VAR_062853 commonName VAR_062853
VAR_062853 disease not phenotype-associated
VAR_062854 commonName VAR_062854
VAR_062854 disease not phenotype-associated
VAR_062855 commonName VAR_062855
VAR_062855 disease not phenotype-associated
VAR_062856 commonName VAR_062856
VAR_062857 commonName VAR_062857
VAR_062857 disease not phenotype-associated
VAR_062858 commonName VAR_062858
VAR_062858 disease not phenotype-associated
VAR_062860 commonName VAR_062860
VAR_062860 disease not phenotype-associated
VAR_062861 commonName VAR_062861
VAR_062862 commonName VAR_062862
VAR_062862 disease not phenotype-associated
VAR_062863 commonName VAR_062863
VAR_062863 disease not phenotype-associated
VAR_062864 commonName VAR_062864
VAR_062864 disease not phenotype-associated
VAR_062865 commonName VAR_062865
VAR_062865 disease not phenotype-associated
VAR_062954 commonName VAR_062954
VAR_062954 disease not phenotype-associated
VAR_062955 commonName VAR_062955
VAR_062955 disease not phenotype-associated
VAR_062956 commonName VAR_062956
VAR_062956 disease not phenotype-associated
VAR_062957 commonName VAR_062957
VAR_062957 disease not phenotype-associated
VAR_062958 commonName VAR_062958
VAR_062958 disease not phenotype-associated
VAR_062959 commonName VAR_062959
VAR_062959 disease not phenotype-associated
VAR_062960 commonName VAR_062960
VAR_062960 disease not phenotype-associated
VAR_062962 commonName VAR_062962
VAR_062962 disease not phenotype-associated
VAR_062963 commonName VAR_062963
VAR_062963 disease not phenotype-associated
VAR_062964 commonName VAR_062964
VAR_062964 disease phenotype-associated
VAR_062964 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_062965 commonName VAR_062965
VAR_062965 disease phenotype-associated
VAR_062965 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_062966 commonName VAR_062966
VAR_062966 disease not phenotype-associated
VAR_062967 commonName VAR_062967
VAR_062967 disease phenotype-associated
VAR_062967 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964]
VAR_062967 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_062968 commonName VAR_062968
VAR_062968 disease phenotype-associated
VAR_062968 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964]
VAR_062968 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_062970 commonName VAR_062970
VAR_062970 disease phenotype-associated
VAR_062970 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964]
VAR_062971 commonName VAR_062971
VAR_062971 disease not phenotype-associated
VAR_062972 commonName VAR_062972
VAR_062972 disease not phenotype-associated
VAR_062973 commonName VAR_062973
VAR_062973 disease not phenotype-associated
VAR_062974 commonName VAR_062974
VAR_062974 disease phenotype-associated
VAR_062974 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]
VAR_062975 commonName VAR_062975
VAR_062975 disease phenotype-associated
VAR_062975 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]
VAR_062976 commonName VAR_062976
VAR_062976 disease phenotype-associated
VAR_062976 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]
VAR_062977 commonName VAR_062977
VAR_062977 disease phenotype-associated
VAR_062977 phenoCommon Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999]
VAR_062978 commonName VAR_062978
VAR_062978 disease phenotype-associated
VAR_062978 phenoCommon The Mitchell-Riley syndrome (MIRIS) [MIM:601346]
VAR_062979 commonName VAR_062979
VAR_062979 disease phenotype-associated
VAR_062979 phenoCommon The Mitchell-Riley syndrome (MIRIS) [MIM:601346]
VAR_062980 commonName VAR_062980
VAR_062980 disease phenotype-associated
VAR_062980 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_062981 commonName VAR_062981
VAR_062981 disease phenotype-associated
VAR_062981 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_062982 commonName VAR_062982
VAR_062982 disease phenotype-associated
VAR_062982 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_062983 commonName VAR_062983
VAR_062983 disease not phenotype-associated
VAR_062984 commonName VAR_062984
VAR_062984 disease not phenotype-associated
VAR_062985 commonName VAR_062985
VAR_062985 disease not phenotype-associated
VAR_062990 commonName VAR_062990
VAR_062991 commonName VAR_062991
VAR_062991 disease not phenotype-associated
VAR_062992 commonName VAR_062992
VAR_062993 commonName VAR_062993
VAR_062993 disease not phenotype-associated
VAR_062994 commonName VAR_062994
VAR_062995 commonName VAR_062995
VAR_062996 commonName VAR_062996
VAR_062996 disease phenotype-associated
VAR_062996 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
VAR_062997 commonName VAR_062997
VAR_062997 disease phenotype-associated
VAR_062997 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
VAR_062998 commonName VAR_062998
VAR_062998 disease phenotype-associated
VAR_062998 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
VAR_062999 commonName VAR_062999
VAR_062999 disease phenotype-associated
VAR_062999 phenoCommon Thrombophilia due to factor IX defect (THPH8) [MIM:300807]
VAR_063000 commonName VAR_063000
VAR_063000 disease phenotype-associated
VAR_063000 phenoCommon Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]
VAR_063001 commonName VAR_063001
VAR_063001 disease phenotype-associated
VAR_063001 phenoCommon Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]
VAR_063009 commonName VAR_063009
VAR_063009 disease phenotype-associated
VAR_063009 phenoCommon Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]
VAR_063011 commonName VAR_063011
VAR_063011 disease phenotype-associated
VAR_063011 phenoCommon Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]
VAR_063012 commonName VAR_063012
VAR_063012 disease phenotype-associated
VAR_063012 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063013 commonName VAR_063013
VAR_063013 disease phenotype-associated
VAR_063013 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063014 commonName VAR_063014
VAR_063014 disease phenotype-associated
VAR_063014 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063015 commonName VAR_063015
VAR_063015 disease phenotype-associated
VAR_063015 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063016 commonName VAR_063016
VAR_063016 disease phenotype-associated
VAR_063016 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063017 commonName VAR_063017
VAR_063017 disease phenotype-associated
VAR_063017 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300]
VAR_063018 commonName VAR_063018
VAR_063018 disease phenotype-associated
VAR_063018 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063019 commonName VAR_063019
VAR_063019 disease phenotype-associated
VAR_063019 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063020 commonName VAR_063020
VAR_063020 disease phenotype-associated
VAR_063020 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063021 commonName VAR_063021
VAR_063021 disease phenotype-associated
VAR_063021 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063022 commonName VAR_063022
VAR_063022 disease phenotype-associated
VAR_063022 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063023 commonName VAR_063023
VAR_063023 disease phenotype-associated
VAR_063023 phenoCommon Galactosialidosis (GSL) [MIM:256540]
VAR_063024 commonName VAR_063024
VAR_063024 disease phenotype-associated
VAR_063024 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]
VAR_063025 commonName VAR_063025
VAR_063025 disease phenotype-associated
VAR_063025 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094]
VAR_063026 commonName VAR_063026
VAR_063026 disease phenotype-associated
VAR_063026 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094]
VAR_063027 commonName VAR_063027
VAR_063027 disease phenotype-associated
VAR_063027 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094]
VAR_063028 commonName VAR_063028
VAR_063028 disease phenotype-associated
VAR_063028 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094]
VAR_063029 commonName VAR_063029
VAR_063029 disease phenotype-associated
VAR_063029 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]
VAR_063030 commonName VAR_063030
VAR_063030 disease not phenotype-associated
VAR_063031 commonName VAR_063031
VAR_063031 disease not phenotype-associated
VAR_063032 commonName VAR_063032
VAR_063032 disease not phenotype-associated
VAR_063033 commonName VAR_063033
VAR_063033 disease not phenotype-associated
VAR_063034 commonName VAR_063034
VAR_063034 disease phenotype-associated
VAR_063034 phenoCommon Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]
VAR_063039 commonName VAR_063039
VAR_063039 disease not phenotype-associated
VAR_063040 commonName VAR_063040
VAR_063040 disease not phenotype-associated
VAR_063049 commonName VAR_063049
VAR_063049 disease phenotype-associated
VAR_063049 phenoCommon Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]
VAR_063050 commonName VAR_063050
VAR_063050 disease phenotype-associated
VAR_063050 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
VAR_063051 commonName VAR_063051
VAR_063051 disease phenotype-associated
VAR_063051 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
VAR_063052 commonName VAR_063052
VAR_063052 disease phenotype-associated
VAR_063052 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
VAR_063054 commonName VAR_063054
VAR_063054 disease phenotype-associated
VAR_063054 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]
VAR_063055 commonName VAR_063055
VAR_063055 disease phenotype-associated
VAR_063055 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]
VAR_063056 commonName VAR_063056
VAR_063056 disease phenotype-associated
VAR_063056 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]
VAR_063057 commonName VAR_063057
VAR_063057 disease phenotype-associated
VAR_063057 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]
VAR_063058 commonName VAR_063058
VAR_063058 disease phenotype-associated
VAR_063058 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]
VAR_063059 commonName VAR_063059
VAR_063059 disease phenotype-associated
VAR_063059 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063060 commonName VAR_063060
VAR_063060 disease phenotype-associated
VAR_063060 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063061 commonName VAR_063061
VAR_063061 disease phenotype-associated
VAR_063061 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063062 commonName VAR_063062
VAR_063062 disease phenotype-associated
VAR_063062 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063063 commonName VAR_063063
VAR_063063 disease phenotype-associated
VAR_063063 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063064 commonName VAR_063064
VAR_063064 disease phenotype-associated
VAR_063064 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
VAR_063065 commonName VAR_063065
VAR_063065 disease phenotype-associated
VAR_063065 phenoCommon Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]
VAR_063066 commonName VAR_063066
VAR_063069 commonName VAR_063069
VAR_063069 disease phenotype-associated
VAR_063069 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]
VAR_063070 commonName VAR_063070
VAR_063070 disease phenotype-associated
VAR_063070 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]
VAR_063071 commonName VAR_063071
VAR_063071 disease phenotype-associated
VAR_063071 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]
VAR_063072 commonName VAR_063072
VAR_063072 disease phenotype-associated
VAR_063072 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]
VAR_063073 commonName VAR_063073
VAR_063073 disease phenotype-associated
VAR_063073 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]
VAR_063074 commonName VAR_063074
VAR_063074 disease phenotype-associated
VAR_063074 phenoCommon Bartter syndrome type 4B (BS4B) [MIM:613090]
VAR_063075 commonName VAR_063075
VAR_063075 disease phenotype-associated
VAR_063075 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063076 commonName VAR_063076
VAR_063076 disease phenotype-associated
VAR_063076 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063077 commonName VAR_063077
VAR_063077 disease phenotype-associated
VAR_063077 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063078 commonName VAR_063078
VAR_063078 disease phenotype-associated
VAR_063078 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063079 commonName VAR_063079
VAR_063079 disease phenotype-associated
VAR_063079 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063080 commonName VAR_063080
VAR_063080 disease phenotype-associated
VAR_063080 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063081 commonName VAR_063081
VAR_063081 disease phenotype-associated
VAR_063081 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063082 commonName VAR_063082
VAR_063082 disease phenotype-associated
VAR_063082 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063083 commonName VAR_063083
VAR_063083 disease phenotype-associated
VAR_063083 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]
VAR_063084 commonName VAR_063084
VAR_063084 disease phenotype-associated
VAR_063084 phenoCommon Autoimmune lymphoproliferative syndrome type 4 (ALPS4) [MIM:614470]
VAR_063085 commonName VAR_063085
VAR_063085 disease phenotype-associated
VAR_063085 phenoCommon Noonan syndrome type 6 (NS6) [MIM:613224]
VAR_063086 commonName VAR_063086
VAR_063086 disease phenotype-associated
VAR_063086 phenoCommon Noonan syndrome type 6 (NS6) [MIM:613224]
VAR_063087 commonName VAR_063087
VAR_063087 disease not phenotype-associated
VAR_063088 commonName VAR_063088
VAR_063088 disease not phenotype-associated
VAR_063089 commonName VAR_063089
VAR_063089 disease phenotype-associated
VAR_063089 phenoCommon Myopathy myofibrillar type 6 (MFM6) [MIM:612954]
VAR_063090 commonName VAR_063090
VAR_063090 disease not phenotype-associated
VAR_063091 commonName VAR_063091
VAR_063091 disease not phenotype-associated
VAR_063092 commonName VAR_063092
VAR_063092 disease phenotype-associated
VAR_063092 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]
VAR_063093 commonName VAR_063093
VAR_063093 disease phenotype-associated
VAR_063093 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]
VAR_063094 commonName VAR_063094
VAR_063094 disease phenotype-associated
VAR_063094 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]
VAR_063095 commonName VAR_063095
VAR_063095 disease phenotype-associated
VAR_063095 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]
VAR_063096 commonName VAR_063096
VAR_063096 disease phenotype-associated
VAR_063096 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]
VAR_063098 commonName VAR_063098
VAR_063098 disease phenotype-associated
VAR_063098 phenoCommon Primary ciliary dyskinesia type 13 (CILD13) [MIM:613193]
VAR_063100 commonName VAR_063100
VAR_063100 disease phenotype-associated
VAR_063100 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300]
VAR_063101 commonName VAR_063101
VAR_063101 disease not phenotype-associated
VAR_063102 commonName VAR_063102
VAR_063102 disease not phenotype-associated
VAR_063103 commonName VAR_063103
VAR_063103 disease not phenotype-associated
VAR_063105 commonName VAR_063105
VAR_063105 disease not phenotype-associated
VAR_063107 commonName VAR_063107
VAR_063107 disease not phenotype-associated
VAR_063108 commonName VAR_063108
VAR_063108 disease not phenotype-associated
VAR_063110 commonName VAR_063110
VAR_063110 disease not phenotype-associated
VAR_063111 commonName VAR_063111
VAR_063111 disease not phenotype-associated
VAR_063112 commonName VAR_063112
VAR_063112 disease not phenotype-associated
VAR_063113 commonName VAR_063113
VAR_063113 disease not phenotype-associated
VAR_063114 commonName VAR_063114
VAR_063114 disease not phenotype-associated
VAR_063115 commonName VAR_063115
VAR_063115 disease not phenotype-associated
VAR_063116 commonName VAR_063116
VAR_063116 disease not phenotype-associated
VAR_063117 commonName VAR_063117
VAR_063117 disease not phenotype-associated
VAR_063118 commonName VAR_063118
VAR_063118 disease not phenotype-associated
VAR_063120 commonName VAR_063120
VAR_063120 disease not phenotype-associated
VAR_063121 commonName VAR_063121
VAR_063121 disease not phenotype-associated
VAR_063122 commonName VAR_063122
VAR_063122 disease not phenotype-associated
VAR_063123 commonName VAR_063123
VAR_063123 disease not phenotype-associated
VAR_063124 commonName VAR_063124
VAR_063124 disease not phenotype-associated
VAR_063126 commonName VAR_063126
VAR_063126 disease not phenotype-associated
VAR_063127 commonName VAR_063127
VAR_063127 disease not phenotype-associated
VAR_063128 commonName VAR_063128
VAR_063128 disease not phenotype-associated
VAR_063129 commonName VAR_063129
VAR_063129 disease not phenotype-associated
VAR_063130 commonName VAR_063130
VAR_063130 disease not phenotype-associated
VAR_063131 commonName VAR_063131
VAR_063131 disease not phenotype-associated
VAR_063132 commonName VAR_063132
VAR_063132 disease not phenotype-associated
VAR_063133 commonName VAR_063133
VAR_063133 disease not phenotype-associated
VAR_063134 commonName VAR_063134
VAR_063134 disease not phenotype-associated
VAR_063135 commonName VAR_063135
VAR_063135 disease not phenotype-associated
VAR_063136 commonName VAR_063136
VAR_063136 disease not phenotype-associated
VAR_063137 commonName VAR_063137
VAR_063137 disease not phenotype-associated
VAR_063138 commonName VAR_063138
VAR_063138 disease not phenotype-associated
VAR_063139 commonName VAR_063139
VAR_063139 disease not phenotype-associated
VAR_063140 commonName VAR_063140
VAR_063140 disease not phenotype-associated
VAR_063141 commonName VAR_063141
VAR_063141 disease not phenotype-associated
VAR_063144 commonName VAR_063144
VAR_063144 disease not phenotype-associated
VAR_063145 commonName VAR_063145
VAR_063145 disease not phenotype-associated
VAR_063146 commonName VAR_063146
VAR_063147 commonName VAR_063147
VAR_063147 disease phenotype-associated
VAR_063147 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089]
VAR_063148 commonName VAR_063148
VAR_063148 disease phenotype-associated
VAR_063148 phenoCommon Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]
VAR_063149 commonName VAR_063149
VAR_063149 disease phenotype-associated
VAR_063149 phenoCommon Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]
VAR_063150 commonName VAR_063150
VAR_063150 disease phenotype-associated
VAR_063150 phenoCommon Pleuropulmonary blastoma (PPB) [MIM:601200]
VAR_063151 commonName VAR_063151
VAR_063151 disease not phenotype-associated
VAR_063152 commonName VAR_063152
VAR_063152 disease not phenotype-associated
VAR_063153 commonName VAR_063153
VAR_063153 disease not phenotype-associated
VAR_063154 commonName VAR_063154
VAR_063154 disease not phenotype-associated
VAR_063155 commonName VAR_063155
VAR_063155 disease not phenotype-associated
VAR_063156 commonName VAR_063156
VAR_063156 disease not phenotype-associated
VAR_063157 commonName VAR_063157
VAR_063157 disease not phenotype-associated
VAR_063159 commonName VAR_063159
VAR_063159 disease not phenotype-associated
VAR_063160 commonName VAR_063160
VAR_063160 disease phenotype-associated
VAR_063160 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]
VAR_063161 commonName VAR_063161
VAR_063161 disease not phenotype-associated
VAR_063162 commonName VAR_063162
VAR_063162 disease phenotype-associated
VAR_063162 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]
VAR_063163 commonName VAR_063163
VAR_063163 disease not phenotype-associated
VAR_063164 commonName VAR_063164
VAR_063164 disease phenotype-associated
VAR_063164 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]
VAR_063165 commonName VAR_063165
VAR_063165 disease phenotype-associated
VAR_063165 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]
VAR_063169 commonName VAR_063169
VAR_063169 disease phenotype-associated
VAR_063169 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194]
VAR_063170 commonName VAR_063170
VAR_063170 disease phenotype-associated
VAR_063170 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194]
VAR_063171 commonName VAR_063171
VAR_063171 disease phenotype-associated
VAR_063171 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194]
VAR_063172 commonName VAR_063172
VAR_063172 disease phenotype-associated
VAR_063172 phenoCommon Spastic paraplegia autosomal recessive type 44 (SPG44) [MIM:613206]
VAR_063173 commonName VAR_063173
VAR_063173 disease not phenotype-associated
VAR_063174 commonName VAR_063174
VAR_063174 disease phenotype-associated
VAR_063174 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063175 commonName VAR_063175
VAR_063175 disease phenotype-associated
VAR_063175 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063176 commonName VAR_063176
VAR_063176 disease phenotype-associated
VAR_063176 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063177 commonName VAR_063177
VAR_063177 disease phenotype-associated
VAR_063177 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063178 commonName VAR_063178
VAR_063178 disease phenotype-associated
VAR_063178 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063179 commonName VAR_063179
VAR_063179 disease not phenotype-associated
VAR_063180 commonName VAR_063180
VAR_063180 disease phenotype-associated
VAR_063180 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063181 commonName VAR_063181
VAR_063181 disease phenotype-associated
VAR_063181 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063182 commonName VAR_063182
VAR_063182 disease phenotype-associated
VAR_063182 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063183 commonName VAR_063183
VAR_063183 disease phenotype-associated
VAR_063183 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063184 commonName VAR_063184
VAR_063184 disease phenotype-associated
VAR_063184 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063185 commonName VAR_063185
VAR_063185 disease phenotype-associated
VAR_063185 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063186 commonName VAR_063186
VAR_063187 commonName VAR_063187
VAR_063187 disease phenotype-associated
VAR_063187 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]
VAR_063188 commonName VAR_063188
VAR_063188 disease not phenotype-associated
VAR_063189 commonName VAR_063189
VAR_063189 disease not phenotype-associated
VAR_063190 commonName VAR_063190
VAR_063190 disease not phenotype-associated
VAR_063191 commonName VAR_063191
VAR_063192 commonName VAR_063192
VAR_063192 disease phenotype-associated
VAR_063192 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649]
VAR_063193 commonName VAR_063193
VAR_063193 disease phenotype-associated
VAR_063193 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649]
VAR_063194 commonName VAR_063194
VAR_063194 disease phenotype-associated
VAR_063194 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649]
VAR_063195 commonName VAR_063195
VAR_063195 disease phenotype-associated
VAR_063195 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649]
VAR_063196 commonName VAR_063196
VAR_063197 commonName VAR_063197
VAR_063198 commonName VAR_063198
VAR_063198 disease not phenotype-associated
VAR_063199 commonName VAR_063199
VAR_063199 disease not phenotype-associated
VAR_063200 commonName VAR_063200
VAR_063200 disease not phenotype-associated
VAR_063201 commonName VAR_063201
VAR_063202 commonName VAR_063202
VAR_063202 disease not phenotype-associated
VAR_063203 commonName VAR_063203
VAR_063203 disease not phenotype-associated
VAR_063204 commonName VAR_063204
VAR_063204 disease not phenotype-associated
VAR_063205 commonName VAR_063205
VAR_063206 commonName VAR_063206
VAR_063207 commonName VAR_063207
VAR_063207 disease not phenotype-associated
VAR_063208 commonName VAR_063208
VAR_063208 disease not phenotype-associated
VAR_063209 commonName VAR_063209
VAR_063210 commonName VAR_063210
VAR_063210 disease not phenotype-associated
VAR_063211 commonName VAR_063211
VAR_063211 disease not phenotype-associated
VAR_063213 commonName VAR_063213
VAR_063213 disease phenotype-associated
VAR_063213 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063214 commonName VAR_063214
VAR_063214 disease phenotype-associated
VAR_063214 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063215 commonName VAR_063215
VAR_063215 disease phenotype-associated
VAR_063215 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063216 commonName VAR_063216
VAR_063216 disease phenotype-associated
VAR_063216 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063217 commonName VAR_063217
VAR_063217 disease phenotype-associated
VAR_063217 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063218 commonName VAR_063218
VAR_063218 disease phenotype-associated
VAR_063218 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063219 commonName VAR_063219
VAR_063219 disease phenotype-associated
VAR_063219 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063220 commonName VAR_063220
VAR_063220 disease phenotype-associated
VAR_063220 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063223 commonName VAR_063223
VAR_063223 disease phenotype-associated
VAR_063223 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]
VAR_063224 commonName VAR_063224
VAR_063224 disease phenotype-associated
VAR_063224 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]
VAR_063226 commonName VAR_063226
VAR_063226 disease phenotype-associated
VAR_063226 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760]
VAR_063227 commonName VAR_063227
VAR_063227 disease phenotype-associated
VAR_063227 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760]
VAR_063228 commonName VAR_063228
VAR_063228 disease phenotype-associated
VAR_063228 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760]
VAR_063229 commonName VAR_063229
VAR_063229 disease phenotype-associated
VAR_063229 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760]
VAR_063230 commonName VAR_063230
VAR_063230 disease phenotype-associated
VAR_063230 phenoCommon Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230]
VAR_063231 commonName VAR_063231
VAR_063231 disease phenotype-associated
VAR_063231 phenoCommon Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230]
VAR_063232 commonName VAR_063232
VAR_063232 disease phenotype-associated
VAR_063232 phenoCommon Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
VAR_063233 commonName VAR_063233
VAR_063233 disease phenotype-associated
VAR_063233 phenoCommon Septooptic dysplasia (SOD) [MIM:182230]
VAR_063234 commonName VAR_063234
VAR_063234 disease phenotype-associated
VAR_063234 phenoCommon Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]
VAR_063235 commonName VAR_063235
VAR_063235 disease phenotype-associated
VAR_063235 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_063236 commonName VAR_063236
VAR_063236 disease phenotype-associated
VAR_063236 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]
VAR_063237 commonName VAR_063237
VAR_063237 disease phenotype-associated
VAR_063237 phenoCommon Familial progressive hyperpigmentation (FPH) [MIM:145250]
VAR_063238 commonName VAR_063238
VAR_063238 disease not phenotype-associated
VAR_063239 commonName VAR_063239
VAR_063239 disease not phenotype-associated
VAR_063240 commonName VAR_063240
VAR_063240 disease phenotype-associated
VAR_063240 phenoCommon Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]
VAR_063241 commonName VAR_063241
VAR_063241 disease phenotype-associated
VAR_063241 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]
VAR_063242 commonName VAR_063242
VAR_063242 disease phenotype-associated
VAR_063242 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
VAR_063243 commonName VAR_063243
VAR_063243 disease phenotype-associated
VAR_063243 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
VAR_063244 commonName VAR_063244
VAR_063244 disease phenotype-associated
VAR_063244 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
VAR_063245 commonName VAR_063245
VAR_063245 disease phenotype-associated
VAR_063245 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
VAR_063246 commonName VAR_063246
VAR_063246 disease phenotype-associated
VAR_063246 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
VAR_063247 commonName VAR_063247
VAR_063247 disease phenotype-associated
VAR_063247 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
VAR_063248 commonName VAR_063248
VAR_063248 disease phenotype-associated
VAR_063248 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
VAR_063249 commonName VAR_063249
VAR_063249 disease phenotype-associated
VAR_063249 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
VAR_063250 commonName VAR_063250
VAR_063250 disease phenotype-associated
VAR_063250 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
VAR_063251 commonName VAR_063251
VAR_063251 disease phenotype-associated
VAR_063251 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
VAR_063252 commonName VAR_063252
VAR_063252 disease phenotype-associated
VAR_063252 phenoCommon Growth retardation developmental delay coarse facies and early death (GDFD) [MIM:612938]
VAR_063253 commonName VAR_063253
VAR_063253 disease phenotype-associated
VAR_063253 phenoCommon Global cerebral hypomyelination (GCHM) [MIM:612949]
VAR_063254 commonName VAR_063254
VAR_063254 disease phenotype-associated
VAR_063254 phenoCommon Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]
VAR_063255 commonName VAR_063255
VAR_063255 disease phenotype-associated
VAR_063255 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_063256 commonName VAR_063256
VAR_063256 disease phenotype-associated
VAR_063256 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_063257 commonName VAR_063257
VAR_063257 disease phenotype-associated
VAR_063257 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_063258 commonName VAR_063258
VAR_063258 disease phenotype-associated
VAR_063258 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965]
VAR_063259 commonName VAR_063259
VAR_063260 commonName VAR_063260
VAR_063260 disease not phenotype-associated
VAR_063261 commonName VAR_063261
VAR_063261 disease not phenotype-associated
VAR_063262 commonName VAR_063262
VAR_063262 disease not phenotype-associated
VAR_063265 commonName VAR_063265
VAR_063265 disease phenotype-associated
VAR_063265 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063266 commonName VAR_063266
VAR_063266 disease phenotype-associated
VAR_063266 phenoCommon Nystagmus congenital X-linked type 6 (NYS6) [MIM:300814]
VAR_063267 commonName VAR_063267
VAR_063267 disease phenotype-associated
VAR_063267 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063268 commonName VAR_063268
VAR_063268 disease phenotype-associated
VAR_063268 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063269 commonName VAR_063269
VAR_063269 disease phenotype-associated
VAR_063269 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063270 commonName VAR_063270
VAR_063270 disease phenotype-associated
VAR_063270 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063271 commonName VAR_063271
VAR_063271 disease phenotype-associated
VAR_063271 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063272 commonName VAR_063272
VAR_063272 disease phenotype-associated
VAR_063272 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063273 commonName VAR_063273
VAR_063273 disease phenotype-associated
VAR_063273 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063274 commonName VAR_063274
VAR_063274 disease phenotype-associated
VAR_063274 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500]
VAR_063278 commonName VAR_063278
VAR_063278 disease phenotype-associated
VAR_063278 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095]
VAR_063279 commonName VAR_063279
VAR_063279 disease not phenotype-associated
VAR_063280 commonName VAR_063280
VAR_063280 disease not phenotype-associated
VAR_063281 commonName VAR_063281
VAR_063281 disease not phenotype-associated
VAR_063282 commonName VAR_063282
VAR_063282 disease not phenotype-associated
VAR_063283 commonName VAR_063283
VAR_063283 disease not phenotype-associated
VAR_063284 commonName VAR_063284
VAR_063284 disease not phenotype-associated
VAR_063285 commonName VAR_063285
VAR_063285 disease not phenotype-associated
VAR_063286 commonName VAR_063286
VAR_063286 disease phenotype-associated
VAR_063286 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]
VAR_063287 commonName VAR_063287
VAR_063287 disease phenotype-associated
VAR_063287 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]
VAR_063288 commonName VAR_063288
VAR_063288 disease phenotype-associated
VAR_063288 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]
VAR_063289 commonName VAR_063289
VAR_063289 disease phenotype-associated
VAR_063289 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]
VAR_063290 commonName VAR_063290
VAR_063290 disease phenotype-associated
VAR_063290 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063291 commonName VAR_063291
VAR_063292 commonName VAR_063292
VAR_063292 disease phenotype-associated
VAR_063292 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063293 commonName VAR_063293
VAR_063293 disease phenotype-associated
VAR_063293 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063294 commonName VAR_063294
VAR_063294 disease phenotype-associated
VAR_063294 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063295 commonName VAR_063295
VAR_063295 disease phenotype-associated
VAR_063295 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063296 commonName VAR_063296
VAR_063297 commonName VAR_063297
VAR_063297 disease phenotype-associated
VAR_063297 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063298 commonName VAR_063298
VAR_063298 disease phenotype-associated
VAR_063298 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063299 commonName VAR_063299
VAR_063299 disease phenotype-associated
VAR_063299 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063300 commonName VAR_063300
VAR_063301 commonName VAR_063301
VAR_063302 commonName VAR_063302
VAR_063302 disease phenotype-associated
VAR_063302 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063303 commonName VAR_063303
VAR_063303 disease phenotype-associated
VAR_063303 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063304 commonName VAR_063304
VAR_063304 disease phenotype-associated
VAR_063304 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063305 commonName VAR_063305
VAR_063305 disease phenotype-associated
VAR_063305 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063306 commonName VAR_063306
VAR_063306 disease phenotype-associated
VAR_063306 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063307 commonName VAR_063307
VAR_063307 disease phenotype-associated
VAR_063307 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063308 commonName VAR_063308
VAR_063309 commonName VAR_063309
VAR_063309 disease phenotype-associated
VAR_063309 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063310 commonName VAR_063310
VAR_063310 disease phenotype-associated
VAR_063310 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063311 commonName VAR_063311
VAR_063311 disease phenotype-associated
VAR_063311 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063312 commonName VAR_063312
VAR_063312 disease phenotype-associated
VAR_063312 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063313 commonName VAR_063313
VAR_063313 disease phenotype-associated
VAR_063313 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063314 commonName VAR_063314
VAR_063315 commonName VAR_063315
VAR_063315 disease phenotype-associated
VAR_063315 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063316 commonName VAR_063316
VAR_063316 disease phenotype-associated
VAR_063316 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063317 commonName VAR_063317
VAR_063317 disease phenotype-associated
VAR_063317 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063318 commonName VAR_063318
VAR_063318 disease phenotype-associated
VAR_063318 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063319 commonName VAR_063319
VAR_063319 disease phenotype-associated
VAR_063319 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063320 commonName VAR_063320
VAR_063320 disease phenotype-associated
VAR_063320 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063321 commonName VAR_063321
VAR_063321 disease phenotype-associated
VAR_063321 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063322 commonName VAR_063322
VAR_063322 disease phenotype-associated
VAR_063322 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063323 commonName VAR_063323
VAR_063323 disease phenotype-associated
VAR_063323 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063324 commonName VAR_063324
VAR_063324 disease phenotype-associated
VAR_063324 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063325 commonName VAR_063325
VAR_063325 disease phenotype-associated
VAR_063325 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063326 commonName VAR_063326
VAR_063327 commonName VAR_063327
VAR_063327 disease phenotype-associated
VAR_063327 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063328 commonName VAR_063328
VAR_063328 disease phenotype-associated
VAR_063328 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063329 commonName VAR_063329
VAR_063330 commonName VAR_063330
VAR_063330 disease phenotype-associated
VAR_063330 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063331 commonName VAR_063331
VAR_063331 disease phenotype-associated
VAR_063331 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063332 commonName VAR_063332
VAR_063332 disease phenotype-associated
VAR_063332 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063334 commonName VAR_063334
VAR_063334 disease phenotype-associated
VAR_063334 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063335 commonName VAR_063335
VAR_063336 commonName VAR_063336
VAR_063337 commonName VAR_063337
VAR_063337 disease phenotype-associated
VAR_063337 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063338 commonName VAR_063338
VAR_063338 disease phenotype-associated
VAR_063338 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063339 commonName VAR_063339
VAR_063339 disease phenotype-associated
VAR_063339 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063340 commonName VAR_063340
VAR_063340 disease not phenotype-associated
VAR_063341 commonName VAR_063341
VAR_063341 disease phenotype-associated
VAR_063341 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063342 commonName VAR_063342
VAR_063342 disease phenotype-associated
VAR_063342 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063343 commonName VAR_063343
VAR_063343 disease phenotype-associated
VAR_063343 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063344 commonName VAR_063344
VAR_063344 disease phenotype-associated
VAR_063344 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063345 commonName VAR_063345
VAR_063345 disease phenotype-associated
VAR_063345 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063346 commonName VAR_063346
VAR_063346 disease phenotype-associated
VAR_063346 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063347 commonName VAR_063347
VAR_063347 disease phenotype-associated
VAR_063347 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063348 commonName VAR_063348
VAR_063348 disease phenotype-associated
VAR_063348 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063349 commonName VAR_063349
VAR_063349 disease phenotype-associated
VAR_063349 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063350 commonName VAR_063350
VAR_063350 disease phenotype-associated
VAR_063350 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063351 commonName VAR_063351
VAR_063351 disease phenotype-associated
VAR_063351 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063352 commonName VAR_063352
VAR_063352 disease phenotype-associated
VAR_063352 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063353 commonName VAR_063353
VAR_063353 disease phenotype-associated
VAR_063353 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063354 commonName VAR_063354
VAR_063354 disease phenotype-associated
VAR_063354 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063355 commonName VAR_063355
VAR_063355 disease phenotype-associated
VAR_063355 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063357 commonName VAR_063357
VAR_063357 disease phenotype-associated
VAR_063357 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063358 commonName VAR_063358
VAR_063358 disease phenotype-associated
VAR_063358 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063359 commonName VAR_063359
VAR_063360 commonName VAR_063360
VAR_063360 disease phenotype-associated
VAR_063360 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063361 commonName VAR_063361
VAR_063361 disease phenotype-associated
VAR_063361 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063363 commonName VAR_063363
VAR_063363 disease phenotype-associated
VAR_063363 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063364 commonName VAR_063364
VAR_063364 disease phenotype-associated
VAR_063364 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063365 commonName VAR_063365
VAR_063365 disease phenotype-associated
VAR_063365 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063366 commonName VAR_063366
VAR_063366 disease phenotype-associated
VAR_063366 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
VAR_063370 commonName VAR_063370
VAR_063370 disease phenotype-associated
VAR_063370 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063371 commonName VAR_063371
VAR_063371 disease phenotype-associated
VAR_063371 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063372 commonName VAR_063372
VAR_063372 disease phenotype-associated
VAR_063372 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063373 commonName VAR_063373
VAR_063373 disease phenotype-associated
VAR_063373 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
HbVar.685 protEffect HBB 7(A3) Glu>Val AND HBB 74(E17) Asp>Asn
VAR_063374 commonName VAR_063374
VAR_063374 disease phenotype-associated
VAR_063374 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063375 commonName VAR_063375
VAR_063375 disease phenotype-associated
VAR_063375 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063377 commonName VAR_063377
VAR_063377 disease phenotype-associated
VAR_063377 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063378 commonName VAR_063378
VAR_063378 disease phenotype-associated
VAR_063378 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063379 commonName VAR_063379
VAR_063379 disease phenotype-associated
VAR_063379 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
VAR_063381 commonName VAR_063381
VAR_063381 disease phenotype-associated
VAR_063381 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
VAR_063383 commonName VAR_063383
VAR_063383 disease phenotype-associated
VAR_063383 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
VAR_063384 comment A Burkitt lymphoma symple
VAR_063384 commonName VAR_063384
VAR_063385 comment A Burkitt lymphoma sample
VAR_063385 commonName VAR_063385
VAR_063386 comment A Burkitt lymphoma sample
VAR_063386 commonName VAR_063386
VAR_063387 comment A Burkitt lymphoma sample
VAR_063387 commonName VAR_063387
VAR_063388 commonName VAR_063388
VAR_063388 disease phenotype-associated
VAR_063388 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091]
VAR_063389 commonName VAR_063389
VAR_063389 disease phenotype-associated
VAR_063389 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031]
VAR_063390 commonName VAR_063390
VAR_063390 disease not phenotype-associated
VAR_063391 commonName VAR_063391
VAR_063391 disease phenotype-associated
VAR_063391 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031]
VAR_063392 commonName VAR_063392
VAR_063392 disease phenotype-associated
VAR_063392 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031]
VAR_063393 commonName VAR_063393
VAR_063393 disease phenotype-associated
VAR_063393 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031]
VAR_063394 commonName VAR_063394
VAR_063394 disease phenotype-associated
VAR_063394 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031]
VAR_063395 commonName VAR_063395
VAR_063395 disease phenotype-associated
VAR_063395 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428]
VAR_063396 commonName VAR_063396
VAR_063396 disease not phenotype-associated
VAR_063397 commonName VAR_063397
VAR_063397 disease not phenotype-associated
VAR_063399 commonName VAR_063399
VAR_063399 disease not phenotype-associated
VAR_063400 commonName VAR_063400
VAR_063400 disease not phenotype-associated
VAR_063401 commonName VAR_063401
VAR_063401 disease not phenotype-associated
VAR_063402 commonName VAR_063402
VAR_063402 disease not phenotype-associated
VAR_063403 commonName VAR_063403
VAR_063403 disease not phenotype-associated
VAR_063404 commonName VAR_063404
VAR_063404 disease not phenotype-associated
VAR_063405 commonName VAR_063405
VAR_063405 disease not phenotype-associated
VAR_063406 commonName VAR_063406
VAR_063406 disease not phenotype-associated
VAR_063407 commonName VAR_063407
VAR_063407 disease not phenotype-associated
VAR_063408 commonName VAR_063408
VAR_063408 disease not phenotype-associated
VAR_063409 commonName VAR_063409
VAR_063409 disease not phenotype-associated
VAR_063410 commonName VAR_063410
VAR_063410 disease not phenotype-associated
VAR_063411 commonName VAR_063411
VAR_063411 disease phenotype-associated
VAR_063411 phenoCommon Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]
VAR_063412 commonName VAR_063412
VAR_063412 disease phenotype-associated
VAR_063412 phenoCommon High bone mass trait (HBM) [MIM:601884]
VAR_063414 commonName VAR_063414
VAR_063414 disease not phenotype-associated
VAR_063415 commonName VAR_063415
VAR_063415 disease not phenotype-associated
VAR_063416 commonName VAR_063416
VAR_063416 disease not phenotype-associated
VAR_063417 commonName VAR_063417
VAR_063417 disease not phenotype-associated
VAR_063418 commonName VAR_063418
VAR_063418 disease not phenotype-associated
VAR_063419 commonName VAR_063419
VAR_063419 disease not phenotype-associated
VAR_063420 commonName VAR_063420
VAR_063420 disease not phenotype-associated
VAR_063421 commonName VAR_063421
VAR_063421 disease phenotype-associated
VAR_063421 phenoCommon Myopathy distal type 2 (MPD2) [MIM:606070]
VAR_063422 commonName VAR_063422
VAR_063422 disease phenotype-associated
VAR_063422 phenoCommon Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]
VAR_063423 commonName VAR_063423
VAR_063423 disease phenotype-associated
VAR_063423 phenoCommon Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]
VAR_063424 commonName VAR_063424
VAR_063424 disease phenotype-associated
VAR_063424 phenoCommon Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]
VAR_063425 commonName VAR_063425
VAR_063425 disease phenotype-associated
VAR_063425 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_063426 commonName VAR_063426
VAR_063426 disease phenotype-associated
VAR_063426 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_063427 commonName VAR_063427
VAR_063427 disease phenotype-associated
VAR_063427 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]
VAR_063428 commonName VAR_063428
VAR_063428 disease not phenotype-associated
VAR_063429 commonName VAR_063429
VAR_063429 disease phenotype-associated
VAR_063429 phenoCommon Transient infantile liver failure (LFIT) [MIM:613070]
VAR_063430 commonName VAR_063430
VAR_063430 disease phenotype-associated
VAR_063430 phenoCommon Transient infantile liver failure (LFIT) [MIM:613070]
VAR_063431 commonName VAR_063431
VAR_063431 disease not phenotype-associated
VAR_063432 commonName VAR_063432
VAR_063432 disease phenotype-associated
VAR_063432 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]
VAR_063433 commonName VAR_063433
VAR_063433 disease phenotype-associated
VAR_063433 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]
VAR_063434 commonName VAR_063434
VAR_063434 disease phenotype-associated
VAR_063434 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]
VAR_063435 commonName VAR_063435
VAR_063435 disease phenotype-associated
VAR_063435 phenoCommon Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]
VAR_063436 commonName VAR_063436
VAR_063436 disease phenotype-associated
VAR_063436 phenoCommon Osteogenesis imperfecta type 9 (OI9) [MIM:259440]
VAR_063437 commonName VAR_063437
VAR_063437 disease not phenotype-associated
VAR_063438 commonName VAR_063438
VAR_063438 disease not phenotype-associated
VAR_063439 commonName VAR_063439
VAR_063440 commonName VAR_063440
VAR_063440 disease not phenotype-associated
VAR_063441 commonName VAR_063441
VAR_063441 disease not phenotype-associated
VAR_063442 commonName VAR_063442
VAR_063442 disease not phenotype-associated
VAR_063443 commonName VAR_063443
VAR_063443 disease not phenotype-associated
VAR_063444 commonName VAR_063444
VAR_063444 disease not phenotype-associated
VAR_063445 commonName VAR_063445
VAR_063445 disease phenotype-associated
VAR_063445 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063446 commonName VAR_063446
VAR_063446 disease not phenotype-associated
VAR_063447 commonName VAR_063447
VAR_063447 disease not phenotype-associated
VAR_063448 commonName VAR_063448
VAR_063448 disease phenotype-associated
VAR_063448 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063449 commonName VAR_063449
VAR_063449 disease not phenotype-associated
VAR_063450 commonName VAR_063450
VAR_063450 disease not phenotype-associated
VAR_063451 commonName VAR_063451
VAR_063451 disease phenotype-associated
VAR_063451 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063452 commonName VAR_063452
VAR_063452 disease not phenotype-associated
VAR_063453 commonName VAR_063453
VAR_063453 disease phenotype-associated
VAR_063453 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063454 commonName VAR_063454
VAR_063454 disease phenotype-associated
VAR_063454 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063455 commonName VAR_063455
VAR_063455 disease not phenotype-associated
VAR_063456 commonName VAR_063456
VAR_063456 disease not phenotype-associated
VAR_063457 commonName VAR_063457
VAR_063457 disease not phenotype-associated
VAR_063458 commonName VAR_063458
VAR_063458 disease not phenotype-associated
VAR_063459 commonName VAR_063459
VAR_063459 disease not phenotype-associated
VAR_063460 commonName VAR_063460
VAR_063460 disease not phenotype-associated
VAR_063461 commonName VAR_063461
VAR_063461 disease not phenotype-associated
VAR_063462 commonName VAR_063462
VAR_063462 disease not phenotype-associated
VAR_063463 commonName VAR_063463
VAR_063463 disease not phenotype-associated
VAR_063464 commonName VAR_063464
VAR_063464 disease not phenotype-associated
VAR_063465 commonName VAR_063465
VAR_063465 disease phenotype-associated
VAR_063465 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063466 commonName VAR_063466
VAR_063466 disease not phenotype-associated
VAR_063467 commonName VAR_063467
VAR_063467 disease phenotype-associated
VAR_063467 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063468 commonName VAR_063468
VAR_063468 disease not phenotype-associated
VAR_063469 commonName VAR_063469
VAR_063469 disease not phenotype-associated
VAR_063470 commonName VAR_063470
VAR_063470 disease phenotype-associated
VAR_063470 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_063471 commonName VAR_063471
VAR_063471 disease not phenotype-associated
VAR_063472 commonName VAR_063472
VAR_063472 disease not phenotype-associated
VAR_063473 commonName VAR_063473
VAR_063473 disease not phenotype-associated
VAR_063474 commonName VAR_063474
VAR_063474 disease not phenotype-associated
VAR_063475 commonName VAR_063475
VAR_063475 disease not phenotype-associated
VAR_063476 commonName VAR_063476
VAR_063476 disease not phenotype-associated
VAR_063477 commonName VAR_063477
VAR_063477 disease not phenotype-associated
VAR_063490 commonName VAR_063490
VAR_063491 commonName VAR_063491
VAR_063491 disease not phenotype-associated
VAR_063492 commonName VAR_063492
VAR_063493 commonName VAR_063493
VAR_063494 commonName VAR_063494
VAR_063494 disease not phenotype-associated
VAR_063495 commonName VAR_063495
VAR_063495 disease not phenotype-associated
VAR_063496 commonName VAR_063496
VAR_063496 disease not phenotype-associated
VAR_063497 commonName VAR_063497
VAR_063497 disease phenotype-associated
VAR_063497 phenoCommon Hypotrichosis type 1 (HYPT1) [MIM:605389]
VAR_063498 comment A lung cancer sample
VAR_063498 commonName VAR_063498
VAR_063499 comment A lung cancer sample
VAR_063499 commonName VAR_063499
VAR_063500 comment Esophagus cancer samples
VAR_063500 commonName VAR_063500
VAR_063501 comment Esophagus cancer sample
VAR_063501 commonName VAR_063501
VAR_063502 comment Esophagus cancer sample
VAR_063502 commonName VAR_063502
VAR_063503 comment Esophagus cancer samples
VAR_063503 commonName VAR_063503
VAR_063504 comment Esophagus cancer samples
VAR_063504 commonName VAR_063504
VAR_063505 commonName VAR_063505
VAR_063505 disease not phenotype-associated
VAR_063506 commonName VAR_063506
VAR_063506 disease not phenotype-associated
VAR_063507 commonName VAR_063507
VAR_063507 disease phenotype-associated
VAR_063507 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_063508 commonName VAR_063508
VAR_063508 disease phenotype-associated
VAR_063508 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_063509 commonName VAR_063509
VAR_063509 disease phenotype-associated
VAR_063509 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_063510 commonName VAR_063510
VAR_063510 disease phenotype-associated
VAR_063510 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400]
VAR_063511 commonName VAR_063511
VAR_063511 disease phenotype-associated
VAR_063511 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540]
VAR_063512 commonName VAR_063512
VAR_063512 disease phenotype-associated
VAR_063512 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540]
VAR_063513 commonName VAR_063513
VAR_063513 disease phenotype-associated
VAR_063513 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540]
VAR_063517 commonName VAR_063517
VAR_063517 disease not phenotype-associated
VAR_063518 commonName VAR_063518
VAR_063518 disease not phenotype-associated
VAR_063521 commonName VAR_063521
VAR_063521 disease phenotype-associated
VAR_063521 phenoCommon Charcot-Marie-Tooth disease type 2B2 (CMT2B2) [MIM:605589]
VAR_063522 commonName VAR_063522
VAR_063522 disease phenotype-associated
VAR_063522 phenoCommon Deafness X-linked type 1 (DFNX1) [MIM:304500]
VAR_063523 commonName VAR_063523
VAR_063523 disease phenotype-associated
VAR_063523 phenoCommon Deafness X-linked type 1 (DFNX1) [MIM:304500]
VAR_063527 commonName VAR_063527
VAR_063527 disease phenotype-associated
VAR_063527 phenoCommon Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]
VAR_063528 commonName VAR_063528
VAR_063528 disease phenotype-associated
VAR_063528 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_063529 commonName VAR_063529
VAR_063529 disease phenotype-associated
VAR_063529 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_063529 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175]
VAR_063530 commonName VAR_063530
VAR_063530 disease phenotype-associated
VAR_063530 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_063530 phenoCommon Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]
VAR_063531 commonName VAR_063531
VAR_063532 commonName VAR_063532
VAR_063533 commonName VAR_063533
VAR_063534 commonName VAR_063534
VAR_063534 disease not phenotype-associated
VAR_063535 commonName VAR_063535
VAR_063536 commonName VAR_063536
VAR_063537 commonName VAR_063537
VAR_063537 disease not phenotype-associated
VAR_063538 commonName VAR_063538
VAR_063539 commonName VAR_063539
VAR_063539 disease phenotype-associated
VAR_063539 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_063540 commonName VAR_063540
VAR_063540 disease phenotype-associated
VAR_063540 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_063541 commonName VAR_063541
VAR_063541 disease phenotype-associated
VAR_063541 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_063542 commonName VAR_063542
VAR_063542 disease phenotype-associated
VAR_063542 phenoCommon Inflammatory bowel disease type 28 (IBD28) [MIM:613148]
VAR_063543 commonName VAR_063543
VAR_063543 disease phenotype-associated
VAR_063543 phenoCommon Inflammatory bowel disease type 28 (IBD28) [MIM:613148]
VAR_063544 commonName VAR_063544
VAR_063544 disease phenotype-associated
VAR_063544 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_063545 commonName VAR_063545
VAR_063545 disease phenotype-associated
VAR_063545 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_063546 commonName VAR_063546
VAR_063546 disease phenotype-associated
VAR_063546 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_063547 commonName VAR_063547
VAR_063547 disease phenotype-associated
VAR_063547 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_063548 commonName VAR_063548
VAR_063548 disease phenotype-associated
VAR_063548 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286]
VAR_063549 commonName VAR_063549
VAR_063549 disease phenotype-associated
VAR_063549 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286]
VAR_063550 commonName VAR_063550
VAR_063550 disease not phenotype-associated
VAR_063551 commonName VAR_063551
VAR_063551 disease not phenotype-associated
VAR_063552 commonName VAR_063552
VAR_063552 disease phenotype-associated
VAR_063552 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]
VAR_063553 commonName VAR_063553
VAR_063553 disease phenotype-associated
VAR_063553 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]
VAR_063554 commonName VAR_063554
VAR_063554 disease phenotype-associated
VAR_063554 phenoCommon Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251]
VAR_063555 commonName VAR_063555
VAR_063555 disease not phenotype-associated
VAR_063556 commonName VAR_063556
VAR_063556 disease not phenotype-associated
VAR_063557 commonName VAR_063557
VAR_063557 disease phenotype-associated
VAR_063557 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]
VAR_063558 commonName VAR_063558
VAR_063558 disease not phenotype-associated
VAR_063559 commonName VAR_063559
VAR_063559 disease not phenotype-associated
VAR_063560 commonName VAR_063560
VAR_063560 disease phenotype-associated
VAR_063560 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063561 commonName VAR_063561
VAR_063561 disease phenotype-associated
VAR_063561 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063562 commonName VAR_063562
VAR_063562 disease phenotype-associated
VAR_063562 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063563 commonName VAR_063563
VAR_063563 disease phenotype-associated
VAR_063563 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063564 commonName VAR_063564
VAR_063564 disease phenotype-associated
VAR_063564 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063565 commonName VAR_063565
VAR_063565 disease phenotype-associated
VAR_063565 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063566 commonName VAR_063566
VAR_063566 disease phenotype-associated
VAR_063566 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063567 commonName VAR_063567
VAR_063567 disease phenotype-associated
VAR_063567 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063568 commonName VAR_063568
VAR_063568 disease phenotype-associated
VAR_063568 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063569 commonName VAR_063569
VAR_063569 disease phenotype-associated
VAR_063569 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063570 commonName VAR_063570
VAR_063570 disease phenotype-associated
VAR_063570 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_063576 commonName VAR_063576
VAR_063576 disease phenotype-associated
VAR_063576 phenoCommon Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]
VAR_063580 commonName VAR_063580
VAR_063580 disease phenotype-associated
VAR_063580 phenoCommon Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]
VAR_063581 commonName VAR_063581
VAR_063581 disease phenotype-associated
VAR_063581 phenoCommon Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]
VAR_063582 commonName VAR_063582
VAR_063582 disease phenotype-associated
VAR_063582 phenoCommon Limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307]
VAR_063583 commonName VAR_063583
VAR_063583 disease phenotype-associated
VAR_063583 phenoCommon Miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319]
VAR_063584 commonName VAR_063584
VAR_063584 disease phenotype-associated
VAR_063584 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330]
VAR_063585 commonName VAR_063585
VAR_063585 disease phenotype-associated
VAR_063585 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330]
VAR_063586 commonName VAR_063586
VAR_063586 disease phenotype-associated
VAR_063586 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330]
VAR_063587 commonName VAR_063587
VAR_063587 disease phenotype-associated
VAR_063587 phenoCommon Woolly hair autosomal dominant (ADWH) [MIM:194300]
VAR_063588 commonName VAR_063588
VAR_063588 disease phenotype-associated
VAR_063588 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_063588 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063589 commonName VAR_063589
VAR_063589 disease phenotype-associated
VAR_063589 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_063589 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063590 commonName VAR_063590
VAR_063590 disease phenotype-associated
VAR_063590 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063591 commonName VAR_063591
VAR_063591 disease phenotype-associated
VAR_063591 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063592 commonName VAR_063592
VAR_063592 disease phenotype-associated
VAR_063592 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063593 commonName VAR_063593
VAR_063593 disease phenotype-associated
VAR_063593 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063594 commonName VAR_063594
VAR_063594 disease phenotype-associated
VAR_063594 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
VAR_063595 commonName VAR_063595
VAR_063597 commonName VAR_063597
VAR_063597 disease phenotype-associated
VAR_063597 phenoCommon Amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435]
VAR_063599 commonName VAR_063599
VAR_063599 disease phenotype-associated
VAR_063599 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
VAR_063600 commonName VAR_063600
VAR_063600 disease phenotype-associated
VAR_063600 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
VAR_063602 commonName VAR_063602
VAR_063602 disease phenotype-associated
VAR_063602 phenoCommon Osteogenesis imperfecta type 10 (OI10) [MIM:613848]
VAR_063603 commonName VAR_063603
VAR_063603 disease not phenotype-associated
VAR_063605 commonName VAR_063605
VAR_063606 commonName VAR_063606
VAR_063606 disease not phenotype-associated
VAR_063607 commonName VAR_063607
VAR_063607 disease phenotype-associated
VAR_063607 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]
VAR_063608 commonName VAR_063608
VAR_063608 disease not phenotype-associated
VAR_063609 commonName VAR_063609
VAR_063609 disease phenotype-associated
VAR_063609 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]
VAR_063610 commonName VAR_063610
VAR_063610 disease not phenotype-associated
VAR_063612 commonName VAR_063612
VAR_063612 disease phenotype-associated
VAR_063612 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]
VAR_063613 commonName VAR_063613
VAR_063613 disease not phenotype-associated
VAR_063614 commonName VAR_063614
VAR_063615 commonName VAR_063615
VAR_063616 commonName VAR_063616
VAR_063616 disease not phenotype-associated
VAR_063617 commonName VAR_063617
VAR_063617 disease not phenotype-associated
VAR_063618 commonName VAR_063618
VAR_063618 disease not phenotype-associated
VAR_063619 commonName VAR_063619
VAR_063619 disease not phenotype-associated
VAR_063620 commonName VAR_063620
VAR_063620 disease not phenotype-associated
VAR_063621 commonName VAR_063621
VAR_063621 disease not phenotype-associated
VAR_063622 commonName VAR_063622
VAR_063622 disease not phenotype-associated
VAR_063623 commonName VAR_063623
VAR_063623 disease not phenotype-associated
VAR_063624 commonName VAR_063624
VAR_063624 disease not phenotype-associated
VAR_063625 commonName VAR_063625
VAR_063625 disease not phenotype-associated
VAR_063626 commonName VAR_063626
VAR_063626 disease not phenotype-associated
VAR_063627 commonName VAR_063627
VAR_063627 disease not phenotype-associated
VAR_063628 commonName VAR_063628
VAR_063628 disease not phenotype-associated
VAR_063629 commonName VAR_063629
VAR_063629 disease not phenotype-associated
VAR_063630 commonName VAR_063630
VAR_063630 disease not phenotype-associated
VAR_063631 commonName VAR_063631
VAR_063631 disease not phenotype-associated
VAR_063632 commonName VAR_063632
VAR_063632 disease not phenotype-associated
VAR_063633 commonName VAR_063633
VAR_063633 disease not phenotype-associated
VAR_063634 commonName VAR_063634
VAR_063634 disease phenotype-associated
VAR_063634 phenoCommon Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]
VAR_063635 commonName VAR_063635
VAR_063635 disease not phenotype-associated
VAR_063636 commonName VAR_063636
VAR_063636 disease not phenotype-associated
VAR_063637 commonName VAR_063637
VAR_063637 disease not phenotype-associated
VAR_063638 commonName VAR_063638
VAR_063639 commonName VAR_063639
VAR_063640 commonName VAR_063640
VAR_063640 disease phenotype-associated
VAR_063640 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_063642 commonName VAR_063642
VAR_063642 disease phenotype-associated
VAR_063642 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063643 commonName VAR_063643
VAR_063643 disease phenotype-associated
VAR_063643 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063644 commonName VAR_063644
VAR_063644 disease phenotype-associated
VAR_063644 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063645 commonName VAR_063645
VAR_063645 disease phenotype-associated
VAR_063645 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063646 commonName VAR_063646
VAR_063646 disease phenotype-associated
VAR_063646 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063647 commonName VAR_063647
VAR_063647 disease phenotype-associated
VAR_063647 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290]
VAR_063648 commonName VAR_063648
VAR_063648 disease phenotype-associated
VAR_063648 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_063649 commonName VAR_063649
VAR_063649 disease phenotype-associated
VAR_063649 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_063650 commonName VAR_063650
VAR_063650 disease phenotype-associated
VAR_063650 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_063651 commonName VAR_063651
VAR_063651 disease phenotype-associated
VAR_063651 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
VAR_063652 commonName VAR_063652
VAR_063653 commonName VAR_063653
VAR_063654 commonName VAR_063654
VAR_063654 disease phenotype-associated
VAR_063654 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063655 commonName VAR_063655
VAR_063655 disease phenotype-associated
VAR_063655 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
VAR_063656 commonName VAR_063656
VAR_063656 disease phenotype-associated
VAR_063656 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
VAR_063657 commonName VAR_063657
VAR_063657 disease phenotype-associated
VAR_063657 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
VAR_063658 commonName VAR_063658
VAR_063658 disease phenotype-associated
VAR_063658 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
VAR_063665 commonName VAR_063665
VAR_063665 disease phenotype-associated
VAR_063665 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_063666 commonName VAR_063666
VAR_063666 disease phenotype-associated
VAR_063666 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_063667 commonName VAR_063667
VAR_063667 disease phenotype-associated
VAR_063667 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_063668 commonName VAR_063668
VAR_063668 disease phenotype-associated
VAR_063668 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_063669 commonName VAR_063669
VAR_063669 disease phenotype-associated
VAR_063669 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
VAR_063673 commonName VAR_063673
VAR_063673 disease phenotype-associated
VAR_063673 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]
VAR_063674 commonName VAR_063674
VAR_063674 disease phenotype-associated
VAR_063674 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]
VAR_063675 commonName VAR_063675
VAR_063675 disease phenotype-associated
VAR_063675 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_063676 commonName VAR_063676
VAR_063676 disease phenotype-associated
VAR_063676 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_063678 commonName VAR_063678
VAR_063678 disease phenotype-associated
VAR_063678 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841]
VAR_063679 commonName VAR_063679
VAR_063679 disease not phenotype-associated
VAR_063680 commonName VAR_063680
VAR_063680 disease not phenotype-associated
VAR_063681 commonName VAR_063681
VAR_063681 disease not phenotype-associated
VAR_063682 commonName VAR_063682
VAR_063682 disease not phenotype-associated
VAR_063683 commonName VAR_063683
VAR_063683 disease phenotype-associated
VAR_063683 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063684 commonName VAR_063684
VAR_063684 disease phenotype-associated
VAR_063684 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063685 commonName VAR_063685
VAR_063685 disease phenotype-associated
VAR_063685 phenoCommon ataxia type 6 (SCA6) [MIM:183086]
VAR_063686 commonName VAR_063686
VAR_063686 disease not phenotype-associated
VAR_063687 commonName VAR_063687
VAR_063687 disease phenotype-associated
VAR_063687 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063688 commonName VAR_063688
VAR_063688 disease phenotype-associated
VAR_063688 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063689 commonName VAR_063689
VAR_063689 disease phenotype-associated
VAR_063689 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063690 commonName VAR_063690
VAR_063690 disease phenotype-associated
VAR_063690 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063691 commonName VAR_063691
VAR_063691 disease phenotype-associated
VAR_063691 phenoCommon Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]
VAR_063692 commonName VAR_063692
VAR_063692 disease phenotype-associated
VAR_063692 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063693 commonName VAR_063693
VAR_063693 disease phenotype-associated
VAR_063693 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_063694 commonName VAR_063694
VAR_063694 disease phenotype-associated
VAR_063694 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]
VAR_063695 commonName VAR_063695
VAR_063695 disease phenotype-associated
VAR_063695 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]
VAR_063696 commonName VAR_063696
VAR_063696 disease phenotype-associated
VAR_063696 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]
VAR_063698 commonName VAR_063698
VAR_063698 disease not phenotype-associated
VAR_063699 commonName VAR_063699
VAR_063699 disease not phenotype-associated
VAR_063700 commonName VAR_063700
VAR_063700 disease phenotype-associated
VAR_063700 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]
VAR_063701 commonName VAR_063701
VAR_063701 disease phenotype-associated
VAR_063701 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]
VAR_063702 commonName VAR_063702
VAR_063702 disease phenotype-associated
VAR_063702 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317]
VAR_063703 commonName VAR_063703
VAR_063703 disease phenotype-associated
VAR_063703 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317]
VAR_063704 commonName VAR_063704
VAR_063704 disease phenotype-associated
VAR_063704 phenoCommon Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388]
VAR_063706 commonName VAR_063706
VAR_063706 disease phenotype-associated
VAR_063706 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
VAR_063707 commonName VAR_063707
VAR_063707 disease phenotype-associated
VAR_063707 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_063708 commonName VAR_063708
VAR_063708 disease phenotype-associated
VAR_063708 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_063709 commonName VAR_063709
VAR_063709 disease phenotype-associated
VAR_063709 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]
VAR_063711 commonName VAR_063711
VAR_063711 disease phenotype-associated
VAR_063711 phenoCommon Brachydactyly type E2 (BDE2) [MIM:613382]
VAR_063712 commonName VAR_063712
VAR_063712 disease phenotype-associated
VAR_063712 phenoCommon Brachydactyly type E2 (BDE2) [MIM:613382]
VAR_063713 commonName VAR_063713
VAR_063713 disease phenotype-associated
VAR_063713 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063714 commonName VAR_063714
VAR_063714 disease phenotype-associated
VAR_063714 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063715 commonName VAR_063715
VAR_063715 disease phenotype-associated
VAR_063715 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063716 commonName VAR_063716
VAR_063716 disease phenotype-associated
VAR_063716 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063717 commonName VAR_063717
VAR_063717 disease phenotype-associated
VAR_063717 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063718 commonName VAR_063718
VAR_063718 disease phenotype-associated
VAR_063718 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_063719 commonName VAR_063719
VAR_063719 disease phenotype-associated
VAR_063719 phenoCommon Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]
VAR_063720 commonName VAR_063720
VAR_063720 disease phenotype-associated
VAR_063720 phenoCommon Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]
VAR_063721 commonName VAR_063721
VAR_063721 disease phenotype-associated
VAR_063721 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]
VAR_063722 commonName VAR_063722
VAR_063722 disease phenotype-associated
VAR_063722 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]
VAR_063723 commonName VAR_063723
VAR_063723 disease phenotype-associated
VAR_063723 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063724 commonName VAR_063724
VAR_063724 disease phenotype-associated
VAR_063724 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063725 commonName VAR_063725
VAR_063725 disease phenotype-associated
VAR_063725 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063726 commonName VAR_063726
VAR_063726 disease phenotype-associated
VAR_063726 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063727 commonName VAR_063727
VAR_063727 disease phenotype-associated
VAR_063727 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063728 commonName VAR_063728
VAR_063728 disease phenotype-associated
VAR_063728 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063729 commonName VAR_063729
VAR_063729 disease phenotype-associated
VAR_063729 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]
VAR_063730 commonName VAR_063730
VAR_063730 disease phenotype-associated
VAR_063730 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063731 commonName VAR_063731
VAR_063731 disease phenotype-associated
VAR_063731 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063732 commonName VAR_063732
VAR_063732 disease phenotype-associated
VAR_063732 phenoCommon Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]
VAR_063733 commonName VAR_063733
VAR_063733 disease not phenotype-associated
VAR_063734 commonName VAR_063734
VAR_063735 commonName VAR_063735
VAR_063735 disease phenotype-associated
VAR_063735 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063736 commonName VAR_063736
VAR_063736 disease phenotype-associated
VAR_063736 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063737 commonName VAR_063737
VAR_063737 disease phenotype-associated
VAR_063737 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063738 commonName VAR_063738
VAR_063738 disease phenotype-associated
VAR_063738 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063739 commonName VAR_063739
VAR_063739 disease phenotype-associated
VAR_063739 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063740 commonName VAR_063740
VAR_063740 disease phenotype-associated
VAR_063740 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063741 commonName VAR_063741
VAR_063741 disease phenotype-associated
VAR_063741 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
VAR_063746 commonName VAR_063746
VAR_063746 disease phenotype-associated
VAR_063746 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
VAR_063747 commonName VAR_063747
VAR_063747 disease phenotype-associated
VAR_063747 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
VAR_063748 commonName VAR_063748
VAR_063748 disease phenotype-associated
VAR_063748 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
VAR_063749 commonName VAR_063749
VAR_063749 disease phenotype-associated
VAR_063749 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
VAR_063751 commonName VAR_063751
VAR_063751 disease phenotype-associated
VAR_063751 phenoCommon 46,XY sex reversal type 5 (SRXY5) [MIM:613080]
VAR_063752 commonName VAR_063752
VAR_063752 disease phenotype-associated
VAR_063752 phenoCommon 46,XY sex reversal type 5 (SRXY5) [MIM:613080]
VAR_063753 commonName VAR_063753
VAR_063753 disease phenotype-associated
VAR_063753 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]
VAR_063754 commonName VAR_063754
VAR_063754 disease phenotype-associated
VAR_063754 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_063755 commonName VAR_063755
VAR_063755 disease phenotype-associated
VAR_063755 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_063756 commonName VAR_063756
VAR_063756 disease phenotype-associated
VAR_063756 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_063757 commonName VAR_063757
VAR_063757 disease phenotype-associated
VAR_063757 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_063759 commonName VAR_063759
VAR_063759 disease phenotype-associated
VAR_063759 phenoCommon Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]
VAR_063760 commonName VAR_063760
VAR_063760 disease phenotype-associated
VAR_063760 phenoCommon Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]
VAR_063764 commonName VAR_063764
VAR_063764 disease phenotype-associated
VAR_063764 phenoCommon Frank-Ter Haar syndrome (FTHS) [MIM:249420]
VAR_063766 commonName VAR_063766
VAR_063766 disease phenotype-associated
VAR_063766 phenoCommon Long QT syndrome type 13 (LQT13) [MIM:613485]
VAR_063768 commonName VAR_063768
VAR_063768 disease phenotype-associated
VAR_063768 phenoCommon Glycogen storage disease type 15 (GSD15) [MIM:613507]
VAR_063770 commonName VAR_063770
VAR_063770 disease phenotype-associated
VAR_063770 phenoCommon Familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092]
VAR_063771 commonName VAR_063771
VAR_063771 disease phenotype-associated
VAR_063771 phenoCommon Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]
VAR_063772 commonName VAR_063772
VAR_063772 disease phenotype-associated
VAR_063772 phenoCommon Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]
VAR_063773 commonName VAR_063773
VAR_063773 disease phenotype-associated
VAR_063773 phenoCommon Distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376]
VAR_063774 commonName VAR_063774
VAR_063774 disease phenotype-associated
VAR_063774 phenoCommon Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]
VAR_063775 commonName VAR_063775
VAR_063775 disease phenotype-associated
VAR_063775 phenoCommon Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]
VAR_063776 commonName VAR_063776
VAR_063776 disease phenotype-associated
VAR_063776 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063777 commonName VAR_063777
VAR_063777 disease phenotype-associated
VAR_063777 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063778 commonName VAR_063778
VAR_063778 disease phenotype-associated
VAR_063778 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063779 commonName VAR_063779
VAR_063779 disease phenotype-associated
VAR_063779 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063780 commonName VAR_063780
VAR_063780 disease phenotype-associated
VAR_063780 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063781 commonName VAR_063781
VAR_063781 disease phenotype-associated
VAR_063781 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063782 commonName VAR_063782
VAR_063782 disease phenotype-associated
VAR_063782 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
VAR_063783 commonName VAR_063783
VAR_063784 commonName VAR_063784
VAR_063785 commonName VAR_063785
VAR_063785 disease phenotype-associated
VAR_063785 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063786 commonName VAR_063786
VAR_063786 disease phenotype-associated
VAR_063786 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063787 commonName VAR_063787
VAR_063787 disease phenotype-associated
VAR_063787 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063788 commonName VAR_063788
VAR_063788 disease phenotype-associated
VAR_063788 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063789 commonName VAR_063789
VAR_063789 disease phenotype-associated
VAR_063789 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063790 commonName VAR_063790
VAR_063790 disease phenotype-associated
VAR_063790 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063791 commonName VAR_063791
VAR_063791 disease phenotype-associated
VAR_063791 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063791 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688]
VAR_063792 commonName VAR_063792
VAR_063792 disease phenotype-associated
VAR_063792 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063793 commonName VAR_063793
VAR_063793 disease phenotype-associated
VAR_063793 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063794 commonName VAR_063794
VAR_063794 disease phenotype-associated
VAR_063794 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063795 commonName VAR_063795
VAR_063795 disease phenotype-associated
VAR_063795 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063796 commonName VAR_063796
VAR_063796 disease phenotype-associated
VAR_063796 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063797 commonName VAR_063797
VAR_063797 disease phenotype-associated
VAR_063797 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063798 commonName VAR_063798
VAR_063798 disease phenotype-associated
VAR_063798 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063799 commonName VAR_063799
VAR_063799 disease phenotype-associated
VAR_063799 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063800 commonName VAR_063800
VAR_063800 disease phenotype-associated
VAR_063800 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063801 commonName VAR_063801
VAR_063801 disease phenotype-associated
VAR_063801 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063801 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688]
VAR_063802 commonName VAR_063802
VAR_063802 disease phenotype-associated
VAR_063802 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063803 commonName VAR_063803
VAR_063803 disease phenotype-associated
VAR_063803 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063804 commonName VAR_063804
VAR_063804 disease phenotype-associated
VAR_063804 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063805 commonName VAR_063805
VAR_063805 disease phenotype-associated
VAR_063805 phenoCommon COACH syndrome (COACHS) [MIM:216360]
VAR_063806 commonName VAR_063806
VAR_063806 disease phenotype-associated
VAR_063806 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
VAR_063807 commonName VAR_063807
VAR_063807 disease phenotype-associated
VAR_063807 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
VAR_063808 commonName VAR_063808
VAR_063808 disease phenotype-associated
VAR_063808 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
VAR_063809 commonName VAR_063809
VAR_063809 disease phenotype-associated
VAR_063809 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
VAR_063810 commonName VAR_063810
VAR_063810 disease phenotype-associated
VAR_063810 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]
VAR_063811 commonName VAR_063811
VAR_063811 disease phenotype-associated
VAR_063811 phenoCommon Reynolds syndrome (REYNS) [MIM:613471]
VAR_063813 commonName VAR_063813
VAR_063813 disease phenotype-associated
VAR_063813 phenoCommon Microcephaly primary type 4 (MCPH4) [MIM:604321]
VAR_063814 commonName VAR_063814
VAR_063814 disease phenotype-associated
VAR_063814 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]
VAR_063816 commonName VAR_063816
VAR_063816 disease phenotype-associated
VAR_063816 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]
VAR_063817 commonName VAR_063817
VAR_063817 disease phenotype-associated
VAR_063817 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]
VAR_063818 commonName VAR_063818
VAR_063818 disease phenotype-associated
VAR_063818 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]
VAR_063819 commonName VAR_063819
VAR_063819 disease phenotype-associated
VAR_063819 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]
VAR_063821 commonName VAR_063821
VAR_063821 disease phenotype-associated
VAR_063821 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_063822 commonName VAR_063822
VAR_063822 disease phenotype-associated
VAR_063822 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_063823 commonName VAR_063823
VAR_063823 disease phenotype-associated
VAR_063823 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_063824 commonName VAR_063824
VAR_063824 disease phenotype-associated
VAR_063824 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_063825 commonName VAR_063825
VAR_063825 disease phenotype-associated
VAR_063825 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
VAR_063828 commonName VAR_063828
VAR_063828 disease phenotype-associated
VAR_063828 phenoCommon Birbeck granule deficiency (BIRGD) [MIM:613393]
VAR_063829 commonName VAR_063829
VAR_063829 disease phenotype-associated
VAR_063829 phenoCommon Diarrhea type 5 (DIAR5) [MIM:613217]
VAR_063830 commonName VAR_063830
VAR_063830 disease phenotype-associated
VAR_063830 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_063831 commonName VAR_063831
VAR_063831 disease phenotype-associated
VAR_063831 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_063832 commonName VAR_063832
VAR_063832 disease phenotype-associated
VAR_063832 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_063833 commonName VAR_063833
VAR_063833 disease phenotype-associated
VAR_063833 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_063834 commonName VAR_063834
VAR_063834 disease phenotype-associated
VAR_063834 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_063835 commonName VAR_063835
VAR_063835 disease phenotype-associated
VAR_063835 phenoCommon Epileptic encephalopathy, early infantile, type 10 (EIEE10) [MIM:613402]
VAR_063837 commonName VAR_063837
VAR_063837 disease not phenotype-associated
VAR_063838 commonName VAR_063838
VAR_063838 disease phenotype-associated
VAR_063838 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399]
VAR_063839 commonName VAR_063839
VAR_063839 disease not phenotype-associated
VAR_063840 commonName VAR_063840
VAR_063840 disease phenotype-associated
VAR_063840 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399]
VAR_063841 commonName VAR_063841
VAR_063841 disease not phenotype-associated
VAR_063842 commonName VAR_063842
VAR_063842 disease not phenotype-associated
VAR_063843 commonName VAR_063843
VAR_063843 disease not phenotype-associated
VAR_063844 commonName VAR_063844
VAR_063844 disease not phenotype-associated
VAR_063846 commonName VAR_063846
VAR_063846 disease phenotype-associated
VAR_063846 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_063847 commonName VAR_063847
VAR_063847 disease phenotype-associated
VAR_063847 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_063848 commonName VAR_063848
VAR_063848 disease phenotype-associated
VAR_063848 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_063849 commonName VAR_063849
VAR_063849 disease phenotype-associated
VAR_063849 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
VAR_063850 commonName VAR_063850
VAR_063850 disease phenotype-associated
VAR_063850 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063851 commonName VAR_063851
VAR_063851 disease phenotype-associated
VAR_063851 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063852 commonName VAR_063852
VAR_063852 disease phenotype-associated
VAR_063852 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063853 commonName VAR_063853
VAR_063853 disease phenotype-associated
VAR_063853 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063854 commonName VAR_063854
VAR_063854 disease phenotype-associated
VAR_063854 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063855 commonName VAR_063855
VAR_063855 disease phenotype-associated
VAR_063855 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063856 commonName VAR_063856
VAR_063856 disease phenotype-associated
VAR_063856 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063857 commonName VAR_063857
VAR_063857 disease phenotype-associated
VAR_063857 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063858 commonName VAR_063858
VAR_063858 disease phenotype-associated
VAR_063858 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063859 commonName VAR_063859
VAR_063859 disease phenotype-associated
VAR_063859 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063860 commonName VAR_063860
VAR_063860 disease phenotype-associated
VAR_063860 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063861 commonName VAR_063861
VAR_063861 disease phenotype-associated
VAR_063861 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063862 commonName VAR_063862
VAR_063862 disease phenotype-associated
VAR_063862 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063863 commonName VAR_063863
VAR_063863 disease phenotype-associated
VAR_063863 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063864 commonName VAR_063864
VAR_063865 commonName VAR_063865
VAR_063865 disease phenotype-associated
VAR_063865 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063866 commonName VAR_063866
VAR_063866 disease phenotype-associated
VAR_063866 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014]
VAR_063867 commonName VAR_063867
VAR_063867 disease phenotype-associated
VAR_063867 phenoCommon Perry syndrome (PERRYS) [MIM:168605]
VAR_063868 commonName VAR_063868
VAR_063868 disease phenotype-associated
VAR_063868 phenoCommon Perry syndrome (PERRYS) [MIM:168605]
VAR_063869 commonName VAR_063869
VAR_063869 disease phenotype-associated
VAR_063869 phenoCommon Perry syndrome (PERRYS) [MIM:168605]
VAR_063870 commonName VAR_063870
VAR_063870 disease phenotype-associated
VAR_063870 phenoCommon Perry syndrome (PERRYS) [MIM:168605]
VAR_063871 commonName VAR_063871
VAR_063871 disease phenotype-associated
VAR_063871 phenoCommon Perry syndrome (PERRYS) [MIM:168605]
VAR_063872 commonName VAR_063872
VAR_063873 commonName VAR_063873
VAR_063874 commonName VAR_063874
VAR_063875 commonName VAR_063875
VAR_063876 commonName VAR_063876
VAR_063877 commonName VAR_063877
VAR_063877 disease phenotype-associated
VAR_063877 phenoCommon Lymphedema hereditary type 1C (LMPH1C) [MIM:613480]
VAR_063878 commonName VAR_063878
VAR_063879 commonName VAR_063879
VAR_063880 commonName VAR_063880
VAR_063880 disease phenotype-associated
VAR_063880 phenoCommon Lymphedema hereditary type 1C (LMPH1C) [MIM:613480]
VAR_063881 commonName VAR_063881
VAR_063882 commonName VAR_063882
VAR_063882 disease phenotype-associated
VAR_063882 phenoCommon Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]
VAR_063883 commonName VAR_063883
VAR_063883 disease phenotype-associated
VAR_063883 phenoCommon Occipital horn syndrome (OHS) [MIM:304150]
VAR_063884 commonName VAR_063884
VAR_063884 disease phenotype-associated
VAR_063884 phenoCommon Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]
VAR_063885 commonName VAR_063885
VAR_063885 disease phenotype-associated
VAR_063885 phenoCommon Congenital variant of Rett syndrome (RTTCV) [MIM:613454]
VAR_063888 commonName VAR_063888
VAR_063888 disease not phenotype-associated
VAR_063890 commonName VAR_063890
VAR_063890 disease not phenotype-associated
VAR_063891 commonName VAR_063891
VAR_063891 disease phenotype-associated
VAR_063891 phenoCommon Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]
VAR_063892 commonName VAR_063892
VAR_063892 disease phenotype-associated
VAR_063892 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063893 commonName VAR_063893
VAR_063893 disease phenotype-associated
VAR_063893 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063894 commonName VAR_063894
VAR_063894 disease phenotype-associated
VAR_063894 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063895 commonName VAR_063895
VAR_063895 disease phenotype-associated
VAR_063895 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063896 commonName VAR_063896
VAR_063896 disease phenotype-associated
VAR_063896 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063897 commonName VAR_063897
VAR_063897 disease phenotype-associated
VAR_063897 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610]
VAR_063898 commonName VAR_063898
VAR_063898 disease phenotype-associated
VAR_063898 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300]
VAR_063899 commonName VAR_063899
VAR_063911 commonName VAR_063911
VAR_063912 commonName VAR_063912
VAR_063913 commonName VAR_063913
VAR_063914 commonName VAR_063914
VAR_063915 commonName VAR_063915
VAR_063916 commonName VAR_063916
VAR_063917 commonName VAR_063917
VAR_063918 commonName VAR_063918
VAR_063919 commonName VAR_063919
VAR_063919 disease phenotype-associated
VAR_063919 phenoCommon Leber congenital amaurosis type 7 (LCA7) [MIM:613829]
VAR_063920 commonName VAR_063920
VAR_063920 disease phenotype-associated
VAR_063920 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063921 commonName VAR_063921
VAR_063921 disease phenotype-associated
VAR_063921 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063922 commonName VAR_063922
VAR_063922 disease phenotype-associated
VAR_063922 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063923 commonName VAR_063923
VAR_063923 disease phenotype-associated
VAR_063923 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063924 commonName VAR_063924
VAR_063924 disease phenotype-associated
VAR_063924 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063925 commonName VAR_063925
VAR_063925 disease phenotype-associated
VAR_063925 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063926 commonName VAR_063926
VAR_063926 disease not phenotype-associated
VAR_063927 commonName VAR_063927
VAR_063927 disease phenotype-associated
VAR_063927 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063928 commonName VAR_063928
VAR_063929 commonName VAR_063929
VAR_063929 disease phenotype-associated
VAR_063929 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063930 commonName VAR_063930
VAR_063930 disease phenotype-associated
VAR_063930 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063931 commonName VAR_063931
VAR_063931 disease phenotype-associated
VAR_063931 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063932 commonName VAR_063932
VAR_063932 disease phenotype-associated
VAR_063932 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063933 commonName VAR_063933
VAR_063933 disease phenotype-associated
VAR_063933 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063934 commonName VAR_063934
VAR_063934 disease phenotype-associated
VAR_063934 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063935 commonName VAR_063935
VAR_063936 commonName VAR_063936
VAR_063936 disease phenotype-associated
VAR_063936 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063937 commonName VAR_063937
VAR_063937 disease phenotype-associated
VAR_063937 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063938 commonName VAR_063938
VAR_063938 disease phenotype-associated
VAR_063938 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063939 commonName VAR_063939
VAR_063939 disease phenotype-associated
VAR_063939 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063940 commonName VAR_063940
VAR_063940 disease phenotype-associated
VAR_063940 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
VAR_063941 commonName VAR_063941
VAR_063942 commonName VAR_063942
VAR_063942 disease not phenotype-associated
VAR_063943 commonName VAR_063943
VAR_063943 disease phenotype-associated
VAR_063943 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063944 commonName VAR_063944
VAR_063944 disease phenotype-associated
VAR_063944 phenoCommon High bone mass trait (HBM) [MIM:601884]
VAR_063945 commonName VAR_063945
VAR_063945 disease phenotype-associated
VAR_063945 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063946 commonName VAR_063946
VAR_063946 disease phenotype-associated
VAR_063946 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063947 commonName VAR_063947
VAR_063947 disease phenotype-associated
VAR_063947 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063948 commonName VAR_063948
VAR_063948 disease phenotype-associated
VAR_063948 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063949 commonName VAR_063949
VAR_063949 disease phenotype-associated
VAR_063949 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063950 commonName VAR_063950
VAR_063950 disease phenotype-associated
VAR_063950 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063951 commonName VAR_063951
VAR_063951 disease phenotype-associated
VAR_063951 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063952 commonName VAR_063952
VAR_063952 disease phenotype-associated
VAR_063952 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063953 commonName VAR_063953
VAR_063953 disease phenotype-associated
VAR_063953 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063954 commonName VAR_063954
VAR_063954 disease phenotype-associated
VAR_063954 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063955 commonName VAR_063955
VAR_063955 disease phenotype-associated
VAR_063955 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063956 commonName VAR_063956
VAR_063956 disease phenotype-associated
VAR_063956 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063957 commonName VAR_063957
VAR_063957 disease phenotype-associated
VAR_063957 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063958 commonName VAR_063958
VAR_063959 commonName VAR_063959
VAR_063959 disease phenotype-associated
VAR_063959 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063960 commonName VAR_063960
VAR_063960 disease phenotype-associated
VAR_063960 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063961 commonName VAR_063961
VAR_063961 disease phenotype-associated
VAR_063961 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063962 commonName VAR_063962
VAR_063962 disease phenotype-associated
VAR_063962 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063963 commonName VAR_063963
VAR_063963 disease phenotype-associated
VAR_063963 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063964 commonName VAR_063964
VAR_063964 disease phenotype-associated
VAR_063964 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063965 commonName VAR_063965
VAR_063965 disease phenotype-associated
VAR_063965 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063966 commonName VAR_063966
VAR_063966 disease phenotype-associated
VAR_063966 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063967 commonName VAR_063967
VAR_063967 disease phenotype-associated
VAR_063967 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063968 commonName VAR_063968
VAR_063968 disease phenotype-associated
VAR_063968 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063968 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063969 commonName VAR_063969
VAR_063969 disease phenotype-associated
VAR_063969 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063970 commonName VAR_063970
VAR_063970 disease phenotype-associated
VAR_063970 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063971 commonName VAR_063971
VAR_063971 disease phenotype-associated
VAR_063971 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
VAR_063972 commonName VAR_063972
VAR_063972 disease phenotype-associated
VAR_063972 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063973 commonName VAR_063973
VAR_063973 disease phenotype-associated
VAR_063973 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]
VAR_063982 commonName VAR_063982
VAR_063982 disease phenotype-associated
VAR_063982 phenoCommon Sclerosteosis type 1 (SOST1) [MIM:269500]
VAR_063983 commonName VAR_063983
VAR_063983 disease phenotype-associated
VAR_063983 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063984 commonName VAR_063984
VAR_063984 disease phenotype-associated
VAR_063984 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063985 commonName VAR_063985
VAR_063985 disease not phenotype-associated
VAR_063986 commonName VAR_063986
VAR_063986 disease phenotype-associated
VAR_063986 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063987 commonName VAR_063987
VAR_063987 disease phenotype-associated
VAR_063987 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063988 commonName VAR_063988
VAR_063988 disease phenotype-associated
VAR_063988 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063989 commonName VAR_063989
VAR_063989 disease phenotype-associated
VAR_063989 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063990 commonName VAR_063990
VAR_063990 disease phenotype-associated
VAR_063990 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063991 commonName VAR_063991
VAR_063991 disease not phenotype-associated
VAR_063992 commonName VAR_063992
VAR_063992 disease phenotype-associated
VAR_063992 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063993 commonName VAR_063993
VAR_063993 disease phenotype-associated
VAR_063993 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063994 commonName VAR_063994
VAR_063994 disease phenotype-associated
VAR_063994 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063995 commonName VAR_063995
VAR_063995 disease not phenotype-associated
VAR_063996 commonName VAR_063996
VAR_063996 disease phenotype-associated
VAR_063996 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]
VAR_063998 commonName VAR_063998
VAR_063998 disease phenotype-associated
VAR_063998 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_063999 commonName VAR_063999
VAR_063999 disease phenotype-associated
VAR_063999 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_063999 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064000 commonName VAR_064000
VAR_064001 commonName VAR_064001
VAR_064001 disease phenotype-associated
VAR_064001 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064002 commonName VAR_064002
VAR_064002 disease phenotype-associated
VAR_064002 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064003 commonName VAR_064003
VAR_064003 disease phenotype-associated
VAR_064003 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064004 commonName VAR_064004
VAR_064004 disease phenotype-associated
VAR_064004 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064005 commonName VAR_064005
VAR_064005 disease phenotype-associated
VAR_064005 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064006 commonName VAR_064006
VAR_064006 disease phenotype-associated
VAR_064006 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064007 commonName VAR_064007
VAR_064007 disease phenotype-associated
VAR_064007 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064008 commonName VAR_064008
VAR_064008 disease phenotype-associated
VAR_064008 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064009 commonName VAR_064009
VAR_064009 disease phenotype-associated
VAR_064009 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064010 commonName VAR_064010
VAR_064010 disease phenotype-associated
VAR_064010 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064011 commonName VAR_064011
VAR_064011 disease phenotype-associated
VAR_064011 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064012 commonName VAR_064012
VAR_064012 disease phenotype-associated
VAR_064012 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064013 commonName VAR_064013
VAR_064013 disease phenotype-associated
VAR_064013 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064014 commonName VAR_064014
VAR_064014 disease phenotype-associated
VAR_064014 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064015 commonName VAR_064015
VAR_064015 disease phenotype-associated
VAR_064015 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064016 commonName VAR_064016
VAR_064016 disease phenotype-associated
VAR_064016 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064017 commonName VAR_064017
VAR_064017 disease phenotype-associated
VAR_064017 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064018 commonName VAR_064018
VAR_064018 disease phenotype-associated
VAR_064018 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064019 commonName VAR_064019
VAR_064020 commonName VAR_064020
VAR_064020 disease phenotype-associated
VAR_064020 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064021 commonName VAR_064021
VAR_064021 disease phenotype-associated
VAR_064021 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064022 commonName VAR_064022
VAR_064022 disease phenotype-associated
VAR_064022 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064023 commonName VAR_064023
VAR_064023 disease phenotype-associated
VAR_064023 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064024 commonName VAR_064024
VAR_064024 disease phenotype-associated
VAR_064024 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]
VAR_064025 commonName VAR_064025
VAR_064025 disease phenotype-associated
VAR_064025 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064026 commonName VAR_064026
VAR_064026 disease phenotype-associated
VAR_064026 phenoCommon Norrie disease (ND) [MIM:310600]
VAR_064027 commonName VAR_064027
VAR_064027 disease not phenotype-associated
VAR_064028 commonName VAR_064028
VAR_064028 disease phenotype-associated
VAR_064028 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091]
VAR_064029 commonName VAR_064029
VAR_064029 disease phenotype-associated
VAR_064029 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091]
VAR_064029 phenoCommon Meckel syndrome type 2 (MKS2) [MIM:603194]
VAR_064030 commonName VAR_064030
VAR_064030 disease phenotype-associated
VAR_064030 phenoCommon Meckel syndrome type 2 (MKS2) [MIM:603194]
VAR_064032 commonName VAR_064032
VAR_064032 disease phenotype-associated
VAR_064032 phenoCommon Fanconi anemia complementation group O (FANCO) [MIM:613390]
VAR_064033 commonName VAR_064033
VAR_064035 commonName VAR_064035
VAR_064035 disease phenotype-associated
VAR_064035 phenoCommon Hyperoxaluria primary type 3 (HP3) [MIM:613616]
VAR_064036 commonName VAR_064036
VAR_064036 disease phenotype-associated
VAR_064036 phenoCommon Hyperoxaluria primary type 3 (HP3) [MIM:613616]
VAR_064039 commonName VAR_064039
VAR_064039 disease phenotype-associated
VAR_064039 phenoCommon Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]
VAR_064040 commonName VAR_064040
VAR_064040 disease phenotype-associated
VAR_064040 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100]
VAR_064041 commonName VAR_064041
VAR_064041 disease not phenotype-associated
VAR_064042 commonName VAR_064042
VAR_064042 disease phenotype-associated
VAR_064042 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_064043 commonName VAR_064043
VAR_064043 disease phenotype-associated
VAR_064043 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064044 commonName VAR_064044
VAR_064044 disease phenotype-associated
VAR_064044 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064045 commonName VAR_064045
VAR_064045 disease phenotype-associated
VAR_064045 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064050 commonName VAR_064050
VAR_064050 disease not phenotype-associated
VAR_064051 commonName VAR_064051
VAR_064051 disease phenotype-associated
VAR_064051 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800]
VAR_064052 commonName VAR_064052
VAR_064052 disease phenotype-associated
VAR_064052 phenoCommon Cone dystrophy type 5 (COD5) [MIM:303700]
VAR_064053 commonName VAR_064053
VAR_064053 disease phenotype-associated
VAR_064053 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800]
VAR_064054 commonName VAR_064054
VAR_064054 disease phenotype-associated
VAR_064054 phenoCommon Partial colorblindness protan series (CBP) [MIM:303900]
VAR_064055 commonName VAR_064055
VAR_064055 disease phenotype-associated
VAR_064055 phenoCommon Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
VAR_064056 comment A gastric carcinoma sample
VAR_064056 commonName VAR_064056
VAR_064057 comment A pancreatic carcinoma sample
VAR_064057 commonName VAR_064057
VAR_064058 commonName VAR_064058
VAR_064059 commonName VAR_064059
VAR_064059 disease not phenotype-associated
VAR_064060 commonName VAR_064060
VAR_064061 commonName VAR_064061
VAR_064062 commonName VAR_064062
VAR_064062 disease phenotype-associated
VAR_064062 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_064063 commonName VAR_064063
VAR_064063 disease phenotype-associated
VAR_064063 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_064064 commonName VAR_064064
VAR_064064 disease phenotype-associated
VAR_064064 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_064065 commonName VAR_064065
VAR_064065 disease phenotype-associated
VAR_064065 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_064070 commonName VAR_064070
VAR_064070 disease phenotype-associated
VAR_064070 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]
VAR_064072 commonName VAR_064072
VAR_064072 disease phenotype-associated
VAR_064072 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]
VAR_064073 commonName VAR_064073
VAR_064073 disease phenotype-associated
VAR_064073 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]
VAR_064075 commonName VAR_064075
VAR_064075 disease phenotype-associated
VAR_064075 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_064076 commonName VAR_064076
VAR_064076 disease phenotype-associated
VAR_064076 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_064077 commonName VAR_064077
VAR_064077 disease phenotype-associated
VAR_064077 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_064078 commonName VAR_064078
VAR_064078 disease phenotype-associated
VAR_064078 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_064079 commonName VAR_064079
VAR_064079 disease phenotype-associated
VAR_064079 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_064081 commonName VAR_064081
VAR_064081 disease phenotype-associated
VAR_064081 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064082 commonName VAR_064082
VAR_064082 disease phenotype-associated
VAR_064082 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064083 commonName VAR_064083
VAR_064083 disease phenotype-associated
VAR_064083 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064084 commonName VAR_064084
VAR_064084 disease phenotype-associated
VAR_064084 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064085 commonName VAR_064085
VAR_064085 disease phenotype-associated
VAR_064085 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064086 commonName VAR_064086
VAR_064086 disease phenotype-associated
VAR_064086 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064087 commonName VAR_064087
VAR_064087 disease phenotype-associated
VAR_064087 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064088 commonName VAR_064088
VAR_064088 disease phenotype-associated
VAR_064088 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064089 commonName VAR_064089
VAR_064089 disease phenotype-associated
VAR_064089 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064090 commonName VAR_064090
VAR_064090 disease phenotype-associated
VAR_064090 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064091 commonName VAR_064091
VAR_064091 disease phenotype-associated
VAR_064091 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064092 commonName VAR_064092
VAR_064092 disease phenotype-associated
VAR_064092 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064093 commonName VAR_064093
VAR_064093 disease phenotype-associated
VAR_064093 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064094 commonName VAR_064094
VAR_064094 disease phenotype-associated
VAR_064094 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064095 commonName VAR_064095
VAR_064095 disease phenotype-associated
VAR_064095 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064096 commonName VAR_064096
VAR_064096 disease phenotype-associated
VAR_064096 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064097 commonName VAR_064097
VAR_064097 disease phenotype-associated
VAR_064097 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064098 commonName VAR_064098
VAR_064098 disease phenotype-associated
VAR_064098 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064099 commonName VAR_064099
VAR_064099 disease phenotype-associated
VAR_064099 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064100 commonName VAR_064100
VAR_064100 disease phenotype-associated
VAR_064100 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064101 commonName VAR_064101
VAR_064101 disease phenotype-associated
VAR_064101 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064102 commonName VAR_064102
VAR_064102 disease phenotype-associated
VAR_064102 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064103 commonName VAR_064103
VAR_064103 disease phenotype-associated
VAR_064103 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064104 commonName VAR_064104
VAR_064104 disease phenotype-associated
VAR_064104 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064105 commonName VAR_064105
VAR_064105 disease phenotype-associated
VAR_064105 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064106 commonName VAR_064106
VAR_064106 disease phenotype-associated
VAR_064106 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064107 commonName VAR_064107
VAR_064107 disease phenotype-associated
VAR_064107 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064108 commonName VAR_064108
VAR_064108 disease phenotype-associated
VAR_064108 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600]
VAR_064109 commonName VAR_064109
VAR_064109 disease phenotype-associated
VAR_064109 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064110 commonName VAR_064110
VAR_064110 disease phenotype-associated
VAR_064110 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064111 commonName VAR_064111
VAR_064111 disease phenotype-associated
VAR_064111 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064112 commonName VAR_064112
VAR_064112 disease phenotype-associated
VAR_064112 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064113 commonName VAR_064113
VAR_064113 disease phenotype-associated
VAR_064113 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064114 commonName VAR_064114
VAR_064115 commonName VAR_064115
VAR_064116 commonName VAR_064116
VAR_064116 disease phenotype-associated
VAR_064116 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064117 commonName VAR_064117
VAR_064118 commonName VAR_064118
VAR_064118 disease phenotype-associated
VAR_064118 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064119 commonName VAR_064119
VAR_064120 commonName VAR_064120
VAR_064120 disease phenotype-associated
VAR_064120 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064121 commonName VAR_064121
VAR_064122 commonName VAR_064122
VAR_064122 disease phenotype-associated
VAR_064122 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064123 commonName VAR_064123
VAR_064124 commonName VAR_064124
VAR_064124 disease phenotype-associated
VAR_064124 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064125 commonName VAR_064125
VAR_064125 disease phenotype-associated
VAR_064125 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064126 commonName VAR_064126
VAR_064126 disease phenotype-associated
VAR_064126 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064127 commonName VAR_064127
VAR_064128 commonName VAR_064128
VAR_064128 disease phenotype-associated
VAR_064128 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064129 commonName VAR_064129
VAR_064129 disease phenotype-associated
VAR_064129 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064130 commonName VAR_064130
VAR_064131 commonName VAR_064131
VAR_064131 disease phenotype-associated
VAR_064131 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064132 commonName VAR_064132
VAR_064132 disease phenotype-associated
VAR_064132 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064133 commonName VAR_064133
VAR_064133 disease phenotype-associated
VAR_064133 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064134 commonName VAR_064134
VAR_064134 disease phenotype-associated
VAR_064134 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064135 commonName VAR_064135
VAR_064135 disease phenotype-associated
VAR_064135 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064136 commonName VAR_064136
VAR_064137 commonName VAR_064137
VAR_064137 disease phenotype-associated
VAR_064137 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064138 commonName VAR_064138
VAR_064138 disease phenotype-associated
VAR_064138 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064139 commonName VAR_064139
VAR_064140 commonName VAR_064140
VAR_064140 disease phenotype-associated
VAR_064140 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064141 commonName VAR_064141
VAR_064141 disease phenotype-associated
VAR_064141 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064142 commonName VAR_064142
VAR_064142 disease phenotype-associated
VAR_064142 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064143 commonName VAR_064143
VAR_064143 disease phenotype-associated
VAR_064143 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064144 commonName VAR_064144
VAR_064144 disease phenotype-associated
VAR_064144 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064145 commonName VAR_064145
VAR_064145 disease phenotype-associated
VAR_064145 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064146 commonName VAR_064146
VAR_064146 disease phenotype-associated
VAR_064146 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064147 commonName VAR_064147
VAR_064147 disease phenotype-associated
VAR_064147 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064148 commonName VAR_064148
VAR_064148 disease phenotype-associated
VAR_064148 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064149 commonName VAR_064149
VAR_064149 disease phenotype-associated
VAR_064149 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064150 commonName VAR_064150
VAR_064150 disease phenotype-associated
VAR_064150 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064151 commonName VAR_064151
VAR_064151 disease phenotype-associated
VAR_064151 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064152 commonName VAR_064152
VAR_064152 disease phenotype-associated
VAR_064152 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_064153 commonName VAR_064153
VAR_064153 disease phenotype-associated
VAR_064153 phenoCommon Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]
VAR_064156 commonName VAR_064156
VAR_064156 disease phenotype-associated
VAR_064156 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
VAR_064157 commonName VAR_064157
VAR_064157 disease phenotype-associated
VAR_064157 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
VAR_064158 commonName VAR_064158
VAR_064158 disease phenotype-associated
VAR_064158 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
VAR_064160 commonName VAR_064160
VAR_064160 disease not phenotype-associated
VAR_064161 commonName VAR_064161
VAR_064161 disease not phenotype-associated
VAR_064162 commonName VAR_064162
VAR_064162 disease not phenotype-associated
VAR_064163 commonName VAR_064163
VAR_064164 commonName VAR_064164
VAR_064165 commonName VAR_064165
VAR_064165 disease not phenotype-associated
VAR_064166 commonName VAR_064166
VAR_064166 disease phenotype-associated
VAR_064166 phenoCommon Retinitis pigmentosa type 53 (RP53) [MIM:612712]
VAR_064167 commonName VAR_064167
VAR_064167 disease not phenotype-associated
VAR_064168 commonName VAR_064168
VAR_064169 commonName VAR_064169
VAR_064169 disease phenotype-associated
VAR_064169 phenoCommon Retinitis pigmentosa type 53 (RP53) [MIM:612712]
VAR_064170 commonName VAR_064170
VAR_064171 commonName VAR_064171
VAR_064172 commonName VAR_064172
VAR_064173 commonName VAR_064173
VAR_064174 commonName VAR_064174
VAR_064175 commonName VAR_064175
VAR_064176 commonName VAR_064176
VAR_064177 commonName VAR_064177
VAR_064178 commonName VAR_064178
VAR_064179 commonName VAR_064179
VAR_064180 commonName VAR_064180
VAR_064180 disease phenotype-associated
VAR_064180 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_064182 commonName VAR_064182
VAR_064182 disease phenotype-associated
VAR_064182 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064183 commonName VAR_064183
VAR_064183 disease phenotype-associated
VAR_064183 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064184 commonName VAR_064184
VAR_064184 disease phenotype-associated
VAR_064184 phenoCommon Retinitis pigmentosa type 55 (RP55) [MIM:613575]
VAR_064185 commonName VAR_064185
VAR_064185 disease phenotype-associated
VAR_064185 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550]
VAR_064186 commonName VAR_064186
VAR_064186 disease phenotype-associated
VAR_064186 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550]
VAR_064187 commonName VAR_064187
VAR_064187 disease phenotype-associated
VAR_064187 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550]
VAR_064188 commonName VAR_064188
VAR_064188 disease phenotype-associated
VAR_064188 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561]
VAR_064189 commonName VAR_064189
VAR_064189 disease phenotype-associated
VAR_064189 phenoCommon Ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:613573]
VAR_064190 commonName VAR_064190
VAR_064190 disease phenotype-associated
VAR_064190 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300]
VAR_064191 commonName VAR_064191
VAR_064191 disease phenotype-associated
VAR_064191 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300]
VAR_064192 commonName VAR_064192
VAR_064192 disease phenotype-associated
VAR_064192 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300]
VAR_064193 commonName VAR_064193
VAR_064193 disease phenotype-associated
VAR_064193 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300]
VAR_064194 commonName VAR_064194
VAR_064194 disease phenotype-associated
VAR_064194 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064195 commonName VAR_064195
VAR_064195 disease phenotype-associated
VAR_064195 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064196 commonName VAR_064196
VAR_064196 disease phenotype-associated
VAR_064196 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064197 commonName VAR_064197
VAR_064197 disease phenotype-associated
VAR_064197 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064198 commonName VAR_064198
VAR_064198 disease phenotype-associated
VAR_064198 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064199 commonName VAR_064199
VAR_064200 commonName VAR_064200
VAR_064200 disease phenotype-associated
VAR_064200 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064201 commonName VAR_064201
VAR_064201 disease phenotype-associated
VAR_064201 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064202 commonName VAR_064202
VAR_064202 disease phenotype-associated
VAR_064202 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064203 commonName VAR_064203
VAR_064203 disease phenotype-associated
VAR_064203 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064204 commonName VAR_064204
VAR_064204 disease phenotype-associated
VAR_064204 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064205 commonName VAR_064205
VAR_064205 disease phenotype-associated
VAR_064205 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064206 commonName VAR_064206
VAR_064206 disease phenotype-associated
VAR_064206 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064207 commonName VAR_064207
VAR_064207 disease phenotype-associated
VAR_064207 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064208 commonName VAR_064208
VAR_064208 disease phenotype-associated
VAR_064208 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064209 commonName VAR_064209
VAR_064209 disease phenotype-associated
VAR_064209 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064210 commonName VAR_064210
VAR_064210 disease phenotype-associated
VAR_064210 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064211 commonName VAR_064211
VAR_064211 disease phenotype-associated
VAR_064211 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064212 commonName VAR_064212
VAR_064212 disease phenotype-associated
VAR_064212 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064213 commonName VAR_064213
VAR_064213 disease phenotype-associated
VAR_064213 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064214 commonName VAR_064214
VAR_064214 disease phenotype-associated
VAR_064214 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064215 commonName VAR_064215
VAR_064215 disease phenotype-associated
VAR_064215 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064216 commonName VAR_064216
VAR_064216 disease phenotype-associated
VAR_064216 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064217 commonName VAR_064217
VAR_064218 commonName VAR_064218
VAR_064218 disease phenotype-associated
VAR_064218 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064219 commonName VAR_064219
VAR_064219 disease phenotype-associated
VAR_064219 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064220 commonName VAR_064220
VAR_064220 disease phenotype-associated
VAR_064220 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064221 commonName VAR_064221
VAR_064222 commonName VAR_064222
VAR_064222 disease phenotype-associated
VAR_064222 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064223 commonName VAR_064223
VAR_064223 disease phenotype-associated
VAR_064223 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064224 commonName VAR_064224
VAR_064224 disease phenotype-associated
VAR_064224 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064225 commonName VAR_064225
VAR_064225 disease phenotype-associated
VAR_064225 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064226 commonName VAR_064226
VAR_064227 commonName VAR_064227
VAR_064227 disease phenotype-associated
VAR_064227 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064228 commonName VAR_064228
VAR_064228 disease phenotype-associated
VAR_064228 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_064229 commonName VAR_064229
VAR_064229 disease phenotype-associated
VAR_064229 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064230 commonName VAR_064230
VAR_064230 disease phenotype-associated
VAR_064230 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064231 commonName VAR_064231
VAR_064231 disease phenotype-associated
VAR_064231 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064232 commonName VAR_064232
VAR_064232 disease phenotype-associated
VAR_064232 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064233 commonName VAR_064233
VAR_064233 disease phenotype-associated
VAR_064233 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064234 commonName VAR_064234
VAR_064234 disease phenotype-associated
VAR_064234 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064235 commonName VAR_064235
VAR_064235 disease phenotype-associated
VAR_064235 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064236 commonName VAR_064236
VAR_064236 disease phenotype-associated
VAR_064236 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064237 commonName VAR_064237
VAR_064237 disease phenotype-associated
VAR_064237 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064238 commonName VAR_064238
VAR_064238 disease phenotype-associated
VAR_064238 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064239 commonName VAR_064239
VAR_064239 disease phenotype-associated
VAR_064239 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064240 commonName VAR_064240
VAR_064240 disease phenotype-associated
VAR_064240 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064241 commonName VAR_064241
VAR_064241 disease phenotype-associated
VAR_064241 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064242 commonName VAR_064242
VAR_064242 disease phenotype-associated
VAR_064242 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064243 commonName VAR_064243
VAR_064243 disease phenotype-associated
VAR_064243 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064244 commonName VAR_064244
VAR_064244 disease phenotype-associated
VAR_064244 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064245 commonName VAR_064245
VAR_064245 disease phenotype-associated
VAR_064245 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064246 commonName VAR_064246
VAR_064246 disease phenotype-associated
VAR_064246 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064247 commonName VAR_064247
VAR_064247 disease phenotype-associated
VAR_064247 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064248 commonName VAR_064248
VAR_064248 disease phenotype-associated
VAR_064248 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064249 commonName VAR_064249
VAR_064249 disease phenotype-associated
VAR_064249 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064250 commonName VAR_064250
VAR_064250 disease phenotype-associated
VAR_064250 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064251 commonName VAR_064251
VAR_064251 disease phenotype-associated
VAR_064251 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064252 commonName VAR_064252
VAR_064252 disease phenotype-associated
VAR_064252 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064253 commonName VAR_064253
VAR_064253 disease phenotype-associated
VAR_064253 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064254 commonName VAR_064254
VAR_064254 disease phenotype-associated
VAR_064254 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064255 commonName VAR_064255
VAR_064255 disease phenotype-associated
VAR_064255 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064256 commonName VAR_064256
VAR_064256 disease phenotype-associated
VAR_064256 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064257 commonName VAR_064257
VAR_064257 disease phenotype-associated
VAR_064257 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064258 commonName VAR_064258
VAR_064258 disease phenotype-associated
VAR_064258 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064259 commonName VAR_064259
VAR_064259 disease phenotype-associated
VAR_064259 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064260 commonName VAR_064260
VAR_064260 disease phenotype-associated
VAR_064260 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064261 commonName VAR_064261
VAR_064261 disease phenotype-associated
VAR_064261 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064262 commonName VAR_064262
VAR_064262 disease phenotype-associated
VAR_064262 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064263 commonName VAR_064263
VAR_064263 disease phenotype-associated
VAR_064263 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064264 commonName VAR_064264
VAR_064264 disease phenotype-associated
VAR_064264 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064265 commonName VAR_064265
VAR_064265 disease phenotype-associated
VAR_064265 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064266 commonName VAR_064266
VAR_064266 disease phenotype-associated
VAR_064266 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064267 commonName VAR_064267
VAR_064267 disease phenotype-associated
VAR_064267 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064268 commonName VAR_064268
VAR_064268 disease not phenotype-associated
VAR_064269 commonName VAR_064269
VAR_064269 disease phenotype-associated
VAR_064269 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064270 commonName VAR_064270
VAR_064270 disease phenotype-associated
VAR_064270 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064271 commonName VAR_064271
VAR_064271 disease phenotype-associated
VAR_064271 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064272 commonName VAR_064272
VAR_064272 disease phenotype-associated
VAR_064272 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064273 commonName VAR_064273
VAR_064273 disease phenotype-associated
VAR_064273 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064274 commonName VAR_064274
VAR_064274 disease phenotype-associated
VAR_064274 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064275 commonName VAR_064275
VAR_064275 disease phenotype-associated
VAR_064275 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064276 commonName VAR_064276
VAR_064276 disease phenotype-associated
VAR_064276 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064277 commonName VAR_064277
VAR_064277 disease not phenotype-associated
VAR_064278 commonName VAR_064278
VAR_064278 disease not phenotype-associated
VAR_064279 commonName VAR_064279
VAR_064279 disease not phenotype-associated
VAR_064280 commonName VAR_064280
VAR_064280 disease not phenotype-associated
VAR_064281 commonName VAR_064281
VAR_064281 disease not phenotype-associated
VAR_064282 commonName VAR_064282
VAR_064282 disease not phenotype-associated
VAR_064283 commonName VAR_064283
VAR_064283 disease not phenotype-associated
VAR_064284 commonName VAR_064284
VAR_064284 disease not phenotype-associated
VAR_064285 commonName VAR_064285
VAR_064285 disease not phenotype-associated
VAR_064286 commonName VAR_064286
VAR_064286 disease not phenotype-associated
VAR_064287 commonName VAR_064287
VAR_064287 disease not phenotype-associated
VAR_064288 commonName VAR_064288
VAR_064288 disease not phenotype-associated
VAR_064289 commonName VAR_064289
VAR_064289 disease not phenotype-associated
VAR_064290 commonName VAR_064290
VAR_064290 disease not phenotype-associated
VAR_064291 commonName VAR_064291
VAR_064291 disease not phenotype-associated
VAR_064292 commonName VAR_064292
VAR_064292 disease not phenotype-associated
VAR_064293 commonName VAR_064293
VAR_064293 disease not phenotype-associated
VAR_064294 commonName VAR_064294
VAR_064294 disease not phenotype-associated
VAR_064295 commonName VAR_064295
VAR_064295 disease phenotype-associated
VAR_064295 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064296 commonName VAR_064296
VAR_064296 disease phenotype-associated
VAR_064296 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064297 commonName VAR_064297
VAR_064297 disease phenotype-associated
VAR_064297 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064298 commonName VAR_064298
VAR_064298 disease phenotype-associated
VAR_064298 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064299 commonName VAR_064299
VAR_064299 disease phenotype-associated
VAR_064299 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064300 commonName VAR_064300
VAR_064300 disease phenotype-associated
VAR_064300 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064301 commonName VAR_064301
VAR_064301 disease phenotype-associated
VAR_064301 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064302 commonName VAR_064302
VAR_064302 disease phenotype-associated
VAR_064302 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064303 commonName VAR_064303
VAR_064303 disease phenotype-associated
VAR_064303 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064304 commonName VAR_064304
VAR_064304 disease phenotype-associated
VAR_064304 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064305 commonName VAR_064305
VAR_064305 disease phenotype-associated
VAR_064305 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064306 commonName VAR_064306
VAR_064306 disease phenotype-associated
VAR_064306 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064307 commonName VAR_064307
VAR_064307 disease phenotype-associated
VAR_064307 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064308 commonName VAR_064308
VAR_064308 disease phenotype-associated
VAR_064308 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064309 commonName VAR_064309
VAR_064309 disease phenotype-associated
VAR_064309 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]
VAR_064310 commonName VAR_064310
VAR_064310 disease phenotype-associated
VAR_064310 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064311 commonName VAR_064311
VAR_064311 disease phenotype-associated
VAR_064311 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064312 commonName VAR_064312
VAR_064312 disease phenotype-associated
VAR_064312 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064313 commonName VAR_064313
VAR_064313 disease phenotype-associated
VAR_064313 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064314 commonName VAR_064314
VAR_064314 disease phenotype-associated
VAR_064314 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064315 commonName VAR_064315
VAR_064315 disease phenotype-associated
VAR_064315 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064316 commonName VAR_064316
VAR_064316 disease phenotype-associated
VAR_064316 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064317 commonName VAR_064317
VAR_064317 disease phenotype-associated
VAR_064317 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064318 commonName VAR_064318
VAR_064318 disease not phenotype-associated
VAR_064319 commonName VAR_064319
VAR_064319 disease phenotype-associated
VAR_064319 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064320 commonName VAR_064320
VAR_064320 disease phenotype-associated
VAR_064320 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064321 commonName VAR_064321
VAR_064321 disease phenotype-associated
VAR_064321 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064322 commonName VAR_064322
VAR_064322 disease phenotype-associated
VAR_064322 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]
VAR_064323 commonName VAR_064323
VAR_064323 disease phenotype-associated
VAR_064323 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064324 commonName VAR_064324
VAR_064324 disease phenotype-associated
VAR_064324 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
VAR_064325 commonName VAR_064325
VAR_064325 disease phenotype-associated
VAR_064325 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064326 commonName VAR_064326
VAR_064326 disease phenotype-associated
VAR_064326 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064327 commonName VAR_064327
VAR_064327 disease phenotype-associated
VAR_064327 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064328 commonName VAR_064328
VAR_064328 disease phenotype-associated
VAR_064328 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064329 commonName VAR_064329
VAR_064329 disease phenotype-associated
VAR_064329 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064330 commonName VAR_064330
VAR_064330 disease phenotype-associated
VAR_064330 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064331 commonName VAR_064331
VAR_064331 disease not phenotype-associated
VAR_064332 commonName VAR_064332
VAR_064332 disease phenotype-associated
VAR_064332 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
VAR_064333 commonName VAR_064333
VAR_064333 disease phenotype-associated
VAR_064333 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
VAR_064334 commonName VAR_064334
VAR_064334 disease phenotype-associated
VAR_064334 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
VAR_064335 commonName VAR_064335
VAR_064335 disease phenotype-associated
VAR_064335 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
VAR_064336 commonName VAR_064336
VAR_064336 disease phenotype-associated
VAR_064336 phenoCommon Maculopathy IMPG2-related (MACLP-IMPG2) [MIM:613581]
VAR_064337 commonName VAR_064337
VAR_064337 disease phenotype-associated
VAR_064337 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064338 commonName VAR_064338
VAR_064338 disease phenotype-associated
VAR_064338 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064339 commonName VAR_064339
VAR_064339 disease phenotype-associated
VAR_064339 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064340 commonName VAR_064340
VAR_064340 disease phenotype-associated
VAR_064340 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064341 commonName VAR_064341
VAR_064341 disease phenotype-associated
VAR_064341 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064342 commonName VAR_064342
VAR_064342 disease phenotype-associated
VAR_064342 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064343 commonName VAR_064343
VAR_064343 disease phenotype-associated
VAR_064343 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]
VAR_064344 commonName VAR_064344
VAR_064344 disease phenotype-associated
VAR_064344 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909]
VAR_064345 commonName VAR_064345
VAR_064345 disease phenotype-associated
VAR_064345 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064346 commonName VAR_064346
VAR_064346 disease phenotype-associated
VAR_064346 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064347 commonName VAR_064347
VAR_064347 disease phenotype-associated
VAR_064347 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064348 commonName VAR_064348
VAR_064348 disease phenotype-associated
VAR_064348 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064349 commonName VAR_064349
VAR_064349 disease phenotype-associated
VAR_064349 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064350 commonName VAR_064350
VAR_064350 disease phenotype-associated
VAR_064350 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064351 commonName VAR_064351
VAR_064351 disease phenotype-associated
VAR_064351 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
VAR_064352 commonName VAR_064352
VAR_064352 disease not phenotype-associated
VAR_064353 commonName VAR_064353
VAR_064353 disease not phenotype-associated
VAR_064354 commonName VAR_064354
VAR_064354 disease not phenotype-associated
VAR_064355 commonName VAR_064355
VAR_064355 disease not phenotype-associated
VAR_064356 commonName VAR_064356
VAR_064356 disease not phenotype-associated
VAR_064357 commonName VAR_064357
VAR_064357 disease phenotype-associated
VAR_064357 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064358 commonName VAR_064358
VAR_064358 disease phenotype-associated
VAR_064358 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064359 commonName VAR_064359
VAR_064359 disease phenotype-associated
VAR_064359 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064360 commonName VAR_064360
VAR_064360 disease phenotype-associated
VAR_064360 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064361 commonName VAR_064361
VAR_064361 disease phenotype-associated
VAR_064361 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064362 commonName VAR_064362
VAR_064362 disease phenotype-associated
VAR_064362 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064363 commonName VAR_064363
VAR_064363 disease phenotype-associated
VAR_064363 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_064364 commonName VAR_064364
VAR_064364 disease not phenotype-associated
VAR_064365 commonName VAR_064365
VAR_064365 disease phenotype-associated
VAR_064365 phenoCommon Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
VAR_064366 commonName VAR_064366
VAR_064366 disease phenotype-associated
VAR_064366 phenoCommon Familial infantile myoclonic epilepsy (FIME) [MIM:605021]
VAR_064368 commonName VAR_064368
VAR_064368 disease not phenotype-associated
VAR_064369 commonName VAR_064369
VAR_064369 disease not phenotype-associated
VAR_064370 commonName VAR_064370
VAR_064370 disease not phenotype-associated
VAR_064371 commonName VAR_064371
VAR_064371 disease not phenotype-associated
VAR_064372 commonName VAR_064372
VAR_064372 disease not phenotype-associated
VAR_064373 commonName VAR_064373
VAR_064373 disease not phenotype-associated
VAR_064374 commonName VAR_064374
VAR_064374 disease not phenotype-associated
VAR_064375 commonName VAR_064375
VAR_064375 disease not phenotype-associated
VAR_064376 commonName VAR_064376
VAR_064376 disease not phenotype-associated
VAR_064377 commonName VAR_064377
VAR_064377 disease not phenotype-associated
VAR_064378 commonName VAR_064378
VAR_064378 disease phenotype-associated
VAR_064378 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_064379 commonName VAR_064379
VAR_064379 disease phenotype-associated
VAR_064379 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920]
VAR_064380 commonName VAR_064380
VAR_064380 disease phenotype-associated
VAR_064380 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064381 commonName VAR_064381
VAR_064381 disease phenotype-associated
VAR_064381 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064382 commonName VAR_064382
VAR_064382 disease phenotype-associated
VAR_064382 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064383 commonName VAR_064383
VAR_064383 disease phenotype-associated
VAR_064383 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064384 commonName VAR_064384
VAR_064384 disease phenotype-associated
VAR_064384 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064385 commonName VAR_064385
VAR_064385 disease phenotype-associated
VAR_064385 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064386 commonName VAR_064386
VAR_064386 disease phenotype-associated
VAR_064386 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064387 commonName VAR_064387
VAR_064387 disease phenotype-associated
VAR_064387 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064388 commonName VAR_064388
VAR_064388 disease phenotype-associated
VAR_064388 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064389 commonName VAR_064389
VAR_064389 disease phenotype-associated
VAR_064389 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064390 commonName VAR_064390
VAR_064390 disease phenotype-associated
VAR_064390 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064391 commonName VAR_064391
VAR_064391 disease phenotype-associated
VAR_064391 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064392 commonName VAR_064392
VAR_064392 disease phenotype-associated
VAR_064392 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064393 commonName VAR_064393
VAR_064393 disease phenotype-associated
VAR_064393 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_064394 commonName VAR_064394
VAR_064394 disease phenotype-associated
VAR_064394 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]
VAR_064395 commonName VAR_064395
VAR_064395 disease not phenotype-associated
VAR_064396 commonName VAR_064396
VAR_064396 disease phenotype-associated
VAR_064396 phenoCommon Congenital variant of Rett syndrome (RTTCV) [MIM:613454]
VAR_064397 commonName VAR_064397
VAR_064397 disease not phenotype-associated
VAR_064398 commonName VAR_064398
VAR_064402 commonName VAR_064402
VAR_064402 disease phenotype-associated
VAR_064402 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064403 commonName VAR_064403
VAR_064403 disease phenotype-associated
VAR_064403 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064404 commonName VAR_064404
VAR_064404 disease phenotype-associated
VAR_064404 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064405 commonName VAR_064405
VAR_064405 disease phenotype-associated
VAR_064405 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064406 commonName VAR_064406
VAR_064406 disease phenotype-associated
VAR_064406 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064407 commonName VAR_064407
VAR_064407 disease phenotype-associated
VAR_064407 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064408 commonName VAR_064408
VAR_064408 disease phenotype-associated
VAR_064408 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
VAR_064409 commonName VAR_064409
VAR_064409 disease phenotype-associated
VAR_064409 phenoCommon Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]
VAR_064410 commonName VAR_064410
VAR_064410 disease phenotype-associated
VAR_064410 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064412 commonName VAR_064412
VAR_064412 disease phenotype-associated
VAR_064412 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064413 commonName VAR_064413
VAR_064413 disease phenotype-associated
VAR_064413 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064414 commonName VAR_064414
VAR_064414 disease phenotype-associated
VAR_064414 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064415 commonName VAR_064415
VAR_064415 disease phenotype-associated
VAR_064415 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
VAR_064416 commonName VAR_064416
VAR_064416 disease phenotype-associated
VAR_064416 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500]
VAR_064417 commonName VAR_064417
VAR_064417 disease phenotype-associated
VAR_064417 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_064418 commonName VAR_064418
VAR_064418 disease phenotype-associated
VAR_064418 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772]
VAR_064421 commonName VAR_064421
VAR_064421 disease phenotype-associated
VAR_064421 phenoCommon Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]
VAR_064422 commonName VAR_064422
VAR_064422 disease phenotype-associated
VAR_064422 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064423 commonName VAR_064423
VAR_064423 disease phenotype-associated
VAR_064423 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064424 commonName VAR_064424
VAR_064424 disease phenotype-associated
VAR_064424 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064425 commonName VAR_064425
VAR_064425 disease phenotype-associated
VAR_064425 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064426 commonName VAR_064426
VAR_064426 disease phenotype-associated
VAR_064426 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064427 commonName VAR_064427
VAR_064427 disease phenotype-associated
VAR_064427 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064428 commonName VAR_064428
VAR_064428 disease phenotype-associated
VAR_064428 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]
VAR_064429 commonName VAR_064429
VAR_064430 commonName VAR_064430
VAR_064430 disease not phenotype-associated
VAR_064431 commonName VAR_064431
VAR_064431 disease phenotype-associated
VAR_064431 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064432 commonName VAR_064432
VAR_064432 disease phenotype-associated
VAR_064432 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064433 commonName VAR_064433
VAR_064433 disease phenotype-associated
VAR_064433 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064434 commonName VAR_064434
VAR_064434 disease phenotype-associated
VAR_064434 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064435 commonName VAR_064435
VAR_064435 disease phenotype-associated
VAR_064435 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064436 commonName VAR_064436
VAR_064436 disease phenotype-associated
VAR_064436 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200]
VAR_064438 commonName VAR_064438
VAR_064439 commonName VAR_064439
VAR_064440 commonName VAR_064440
VAR_064441 commonName VAR_064441
VAR_064442 commonName VAR_064442
VAR_064442 disease not phenotype-associated
VAR_064443 commonName VAR_064443
VAR_064444 commonName VAR_064444
VAR_064444 disease phenotype-associated
VAR_064444 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064445 commonName VAR_064445
VAR_064445 disease phenotype-associated
VAR_064445 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064446 commonName VAR_064446
VAR_064446 disease phenotype-associated
VAR_064446 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064447 commonName VAR_064447
VAR_064447 disease phenotype-associated
VAR_064447 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064448 commonName VAR_064448
VAR_064448 disease phenotype-associated
VAR_064448 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064449 commonName VAR_064449
VAR_064450 commonName VAR_064450
VAR_064451 commonName VAR_064451
VAR_064451 disease phenotype-associated
VAR_064451 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064452 commonName VAR_064452
VAR_064452 disease phenotype-associated
VAR_064452 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064453 commonName VAR_064453
VAR_064454 commonName VAR_064454
VAR_064454 disease phenotype-associated
VAR_064454 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064455 commonName VAR_064455
VAR_064456 commonName VAR_064456
VAR_064457 commonName VAR_064457
VAR_064458 commonName VAR_064458
VAR_064458 disease phenotype-associated
VAR_064458 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551]
VAR_064466 commonName VAR_064466
VAR_064466 disease not phenotype-associated
VAR_064467 commonName VAR_064467
VAR_064467 disease phenotype-associated
VAR_064467 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064468 commonName VAR_064468
VAR_064468 disease phenotype-associated
VAR_064468 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064469 commonName VAR_064469
VAR_064469 disease not phenotype-associated
VAR_064470 commonName VAR_064470
VAR_064470 disease not phenotype-associated
VAR_064471 commonName VAR_064471
VAR_064471 disease phenotype-associated
VAR_064471 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064472 commonName VAR_064472
VAR_064472 disease phenotype-associated
VAR_064472 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064473 commonName VAR_064473
VAR_064473 disease phenotype-associated
VAR_064473 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064474 commonName VAR_064474
VAR_064474 disease phenotype-associated
VAR_064474 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_064475 commonName VAR_064475
VAR_064475 disease phenotype-associated
VAR_064475 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500]
VAR_064477 commonName VAR_064477
VAR_064477 disease not phenotype-associated
VAR_064478 commonName VAR_064478
VAR_064478 disease not phenotype-associated
VAR_064480 commonName VAR_064480
VAR_064480 disease phenotype-associated
VAR_064480 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
VAR_064481 commonName VAR_064481
VAR_064481 disease phenotype-associated
VAR_064481 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064482 commonName VAR_064482
VAR_064482 disease phenotype-associated
VAR_064482 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064483 commonName VAR_064483
VAR_064483 disease phenotype-associated
VAR_064483 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064484 commonName VAR_064484
VAR_064484 disease phenotype-associated
VAR_064484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064485 commonName VAR_064485
VAR_064485 disease phenotype-associated
VAR_064485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064486 commonName VAR_064486
VAR_064486 disease phenotype-associated
VAR_064486 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064487 commonName VAR_064487
VAR_064487 disease phenotype-associated
VAR_064487 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064488 commonName VAR_064488
VAR_064488 disease phenotype-associated
VAR_064488 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064489 commonName VAR_064489
VAR_064489 disease phenotype-associated
VAR_064489 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064490 commonName VAR_064490
VAR_064490 disease phenotype-associated
VAR_064490 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064491 commonName VAR_064491
VAR_064491 disease not phenotype-associated
VAR_064492 commonName VAR_064492
VAR_064492 disease not phenotype-associated
VAR_064493 commonName VAR_064493
VAR_064493 disease phenotype-associated
VAR_064493 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_064494 commonName VAR_064494
VAR_064494 disease phenotype-associated
VAR_064494 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_064495 commonName VAR_064495
VAR_064495 disease phenotype-associated
VAR_064495 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
VAR_064496 commonName VAR_064496
VAR_064496 disease phenotype-associated
VAR_064496 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
VAR_064497 commonName VAR_064497
VAR_064497 disease phenotype-associated
VAR_064497 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
VAR_064498 commonName VAR_064498
VAR_064498 disease phenotype-associated
VAR_064498 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
VAR_064499 commonName VAR_064499
VAR_064499 disease phenotype-associated
VAR_064499 phenoCommon Familial porencephaly (POREN1) [MIM:175780]
VAR_064500 commonName VAR_064500
VAR_064500 disease phenotype-associated
VAR_064500 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649]
VAR_064501 commonName VAR_064501
VAR_064501 disease phenotype-associated
VAR_064501 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
VAR_064502 commonName VAR_064502
VAR_064502 disease phenotype-associated
VAR_064502 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]
VAR_064504 commonName VAR_064504
VAR_064504 disease phenotype-associated
VAR_064504 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_064505 commonName VAR_064505
VAR_064505 disease phenotype-associated
VAR_064505 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_064506 commonName VAR_064506
VAR_064506 disease phenotype-associated
VAR_064506 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_064507 commonName VAR_064507
VAR_064508 commonName VAR_064508
VAR_064508 disease phenotype-associated
VAR_064508 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_064509 commonName VAR_064509
VAR_064509 disease phenotype-associated
VAR_064509 phenoCommon Dursun syndrome (DURSS) [MIM:612541]
VAR_064510 commonName VAR_064510
VAR_064510 disease phenotype-associated
VAR_064510 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_064511 commonName VAR_064511
VAR_064511 disease phenotype-associated
VAR_064511 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
VAR_064512 commonName VAR_064512
VAR_064512 disease phenotype-associated
VAR_064512 phenoCommon Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]
VAR_064513 commonName VAR_064513
VAR_064513 disease phenotype-associated
VAR_064513 phenoCommon Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]
VAR_064514 commonName VAR_064514
VAR_064514 disease phenotype-associated
VAR_064514 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738]
VAR_064515 commonName VAR_064515
VAR_064515 disease phenotype-associated
VAR_064515 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738]
VAR_064516 commonName VAR_064516
VAR_064516 disease phenotype-associated
VAR_064516 phenoCommon Moyamoya disease type 5 (MYMY5) [MIM:614042]
VAR_064516 phenoCommon Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
VAR_064517 commonName VAR_064517
VAR_064517 disease phenotype-associated
VAR_064517 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064518 commonName VAR_064518
VAR_064519 commonName VAR_064519
VAR_064519 disease phenotype-associated
VAR_064519 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064520 commonName VAR_064520
VAR_064520 disease phenotype-associated
VAR_064520 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064521 commonName VAR_064521
VAR_064521 disease phenotype-associated
VAR_064521 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064522 commonName VAR_064522
VAR_064522 disease phenotype-associated
VAR_064522 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064523 commonName VAR_064523
VAR_064523 disease phenotype-associated
VAR_064523 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064524 commonName VAR_064524
VAR_064524 disease phenotype-associated
VAR_064524 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064526 commonName VAR_064526
VAR_064526 disease phenotype-associated
VAR_064526 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064527 commonName VAR_064527
VAR_064527 disease phenotype-associated
VAR_064527 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064528 commonName VAR_064528
VAR_064528 disease phenotype-associated
VAR_064528 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064529 commonName VAR_064529
VAR_064530 commonName VAR_064530
VAR_064530 disease phenotype-associated
VAR_064530 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064531 commonName VAR_064531
VAR_064531 disease phenotype-associated
VAR_064531 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064532 commonName VAR_064532
VAR_064532 disease phenotype-associated
VAR_064532 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064533 commonName VAR_064533
VAR_064533 disease phenotype-associated
VAR_064533 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064534 commonName VAR_064534
VAR_064534 disease phenotype-associated
VAR_064534 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064535 commonName VAR_064535
VAR_064535 disease phenotype-associated
VAR_064535 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064536 commonName VAR_064536
VAR_064536 disease phenotype-associated
VAR_064536 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064537 commonName VAR_064537
VAR_064537 disease phenotype-associated
VAR_064537 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064537 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]
VAR_064538 commonName VAR_064538
VAR_064538 disease phenotype-associated
VAR_064538 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064539 commonName VAR_064539
VAR_064539 disease phenotype-associated
VAR_064539 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064540 commonName VAR_064540
VAR_064540 disease phenotype-associated
VAR_064540 phenoCommon Metatropic dysplasia (MTD) [MIM:156530]
VAR_064541 commonName VAR_064541
VAR_064541 disease phenotype-associated
VAR_064541 phenoCommon Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500]
VAR_064542 commonName VAR_064542
VAR_064542 disease phenotype-associated
VAR_064542 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_064543 commonName VAR_064543
VAR_064543 disease phenotype-associated
VAR_064543 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]
VAR_064545 commonName VAR_064545
VAR_064545 disease phenotype-associated
VAR_064545 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_064546 commonName VAR_064546
VAR_064546 disease phenotype-associated
VAR_064546 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_064547 commonName VAR_064547
VAR_064547 disease phenotype-associated
VAR_064547 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
VAR_064549 commonName VAR_064549
VAR_064549 disease not phenotype-associated
VAR_064554 commonName VAR_064554
VAR_064554 disease phenotype-associated
VAR_064554 phenoCommon Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]
VAR_064555 commonName VAR_064555
VAR_064555 disease phenotype-associated
VAR_064555 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_064556 commonName VAR_064556
VAR_064556 disease phenotype-associated
VAR_064556 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
VAR_064569 commonName VAR_064569
VAR_064570 commonName VAR_064570
VAR_064573 commonName VAR_064573
VAR_064573 disease not phenotype-associated
VAR_064574 commonName VAR_064574
VAR_064574 disease not phenotype-associated
VAR_064575 commonName VAR_064575
VAR_064575 disease not phenotype-associated
VAR_064576 commonName VAR_064576
VAR_064576 disease not phenotype-associated
VAR_064577 commonName VAR_064577
VAR_064577 disease not phenotype-associated
VAR_064578 commonName VAR_064578
VAR_064578 disease not phenotype-associated
VAR_064580 commonName VAR_064580
VAR_064580 disease not phenotype-associated
VAR_064581 commonName VAR_064581
VAR_064581 disease phenotype-associated
VAR_064581 phenoCommon Cranioectodermal dysplasia type 2 (CED2) [MIM:613610]
VAR_064582 commonName VAR_064582
VAR_064582 disease phenotype-associated
VAR_064582 phenoCommon Cranioectodermal dysplasia type 2 (CED2) [MIM:613610]
VAR_064583 commonName VAR_064583
VAR_064583 disease phenotype-associated
VAR_064583 phenoCommon Spinocerebellar ataxia autosomal recessive type 5 (SCAR5) [MIM:606937]
VAR_064584 commonName VAR_064584
VAR_064584 disease not phenotype-associated
VAR_064585 commonName VAR_064585
VAR_064585 disease not phenotype-associated
VAR_064586 commonName VAR_064586
VAR_064586 disease not phenotype-associated
VAR_064587 commonName VAR_064587
VAR_064587 disease not phenotype-associated
VAR_064588 commonName VAR_064588
VAR_064588 disease not phenotype-associated
VAR_064589 commonName VAR_064589
VAR_064589 disease not phenotype-associated
VAR_064590 commonName VAR_064590
VAR_064590 disease not phenotype-associated
VAR_064591 commonName VAR_064591
VAR_064591 disease not phenotype-associated
VAR_064615 commonName VAR_064615
VAR_064615 disease phenotype-associated
VAR_064615 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_064616 commonName VAR_064616
VAR_064616 disease phenotype-associated
VAR_064616 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_064617 commonName VAR_064617
VAR_064617 disease phenotype-associated
VAR_064617 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_064618 commonName VAR_064618
VAR_064618 disease phenotype-associated
VAR_064618 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
VAR_064619 commonName VAR_064619
VAR_064619 disease phenotype-associated
VAR_064619 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
VAR_064621 commonName VAR_064621
VAR_064621 disease phenotype-associated
VAR_064621 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
VAR_064625 commonName VAR_064625
VAR_064625 disease not phenotype-associated
VAR_064626 commonName VAR_064626
VAR_064626 disease not phenotype-associated
VAR_064627 commonName VAR_064627
VAR_064627 disease not phenotype-associated
VAR_064629 commonName VAR_064629
VAR_064629 disease not phenotype-associated
VAR_064630 commonName VAR_064630
VAR_064630 disease not phenotype-associated
VAR_064631 commonName VAR_064631
VAR_064631 disease not phenotype-associated
VAR_064632 commonName VAR_064632
VAR_064632 disease not phenotype-associated
VAR_064633 commonName VAR_064633
VAR_064633 disease not phenotype-associated
VAR_064634 commonName VAR_064634
VAR_064634 disease not phenotype-associated
VAR_064635 commonName VAR_064635
VAR_064635 disease not phenotype-associated
VAR_064636 commonName VAR_064636
VAR_064636 disease not phenotype-associated
VAR_064637 commonName VAR_064637
VAR_064637 disease phenotype-associated
VAR_064637 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064638 commonName VAR_064638
VAR_064638 disease phenotype-associated
VAR_064638 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064640 commonName VAR_064640
VAR_064640 disease phenotype-associated
VAR_064640 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_064641 commonName VAR_064641
VAR_064641 disease phenotype-associated
VAR_064641 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064642 commonName VAR_064642
VAR_064642 disease phenotype-associated
VAR_064642 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064643 commonName VAR_064643
VAR_064643 disease phenotype-associated
VAR_064643 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064644 commonName VAR_064644
VAR_064644 disease phenotype-associated
VAR_064644 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064645 commonName VAR_064645
VAR_064645 disease phenotype-associated
VAR_064645 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064646 commonName VAR_064646
VAR_064646 disease phenotype-associated
VAR_064646 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
VAR_064647 commonName VAR_064647
VAR_064647 disease phenotype-associated
VAR_064647 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064648 commonName VAR_064648
VAR_064648 disease phenotype-associated
VAR_064648 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
VAR_064653 commonName VAR_064653
VAR_064654 commonName VAR_064654
VAR_064656 commonName VAR_064656
VAR_064657 commonName VAR_064657
VAR_064658 commonName VAR_064658
VAR_064659 commonName VAR_064659
VAR_064660 commonName VAR_064660
VAR_064661 commonName VAR_064661
VAR_064662 commonName VAR_064662
VAR_064663 commonName VAR_064663
VAR_064664 commonName VAR_064664
VAR_064665 commonName VAR_064665
VAR_064666 commonName VAR_064666
VAR_064667 commonName VAR_064667
VAR_064668 commonName VAR_064668
VAR_064669 commonName VAR_064669
VAR_064670 commonName VAR_064670
VAR_064671 commonName VAR_064671
VAR_064672 commonName VAR_064672
VAR_064673 commonName VAR_064673
VAR_064674 commonName VAR_064674
VAR_064674 disease not phenotype-associated
VAR_064675 commonName VAR_064675
VAR_064676 commonName VAR_064676
VAR_064677 commonName VAR_064677
VAR_064678 commonName VAR_064678
VAR_064679 commonName VAR_064679
VAR_064680 commonName VAR_064680
VAR_064681 commonName VAR_064681
VAR_064682 commonName VAR_064682
VAR_064683 commonName VAR_064683
VAR_064685 commonName VAR_064685
VAR_064686 commonName VAR_064686
VAR_064687 commonName VAR_064687
VAR_064688 commonName VAR_064688
VAR_064689 commonName VAR_064689
VAR_064690 commonName VAR_064690
VAR_064691 commonName VAR_064691
VAR_064692 commonName VAR_064692
VAR_064693 commonName VAR_064693
VAR_064694 commonName VAR_064694
VAR_064695 commonName VAR_064695
VAR_064697 commonName VAR_064697
VAR_064699 commonName VAR_064699
VAR_064700 commonName VAR_064700
VAR_064701 commonName VAR_064701
VAR_064701 disease not phenotype-associated
VAR_064702 commonName VAR_064702
VAR_064703 commonName VAR_064703
VAR_064704 commonName VAR_064704
VAR_064705 commonName VAR_064705
VAR_064707 commonName VAR_064707
VAR_064708 commonName VAR_064708
VAR_064709 commonName VAR_064709
VAR_064710 commonName VAR_064710
VAR_064711 commonName VAR_064711
VAR_064712 commonName VAR_064712
VAR_064713 commonName VAR_064713
VAR_064714 commonName VAR_064714
VAR_064715 commonName VAR_064715
VAR_064716 commonName VAR_064716
VAR_064717 commonName VAR_064717
VAR_064718 commonName VAR_064718
VAR_064719 commonName VAR_064719
VAR_064720 commonName VAR_064720
VAR_064721 commonName VAR_064721
VAR_064723 commonName VAR_064723
VAR_064725 commonName VAR_064725
VAR_064726 commonName VAR_064726
VAR_064727 commonName VAR_064727
VAR_064729 commonName VAR_064729
VAR_064730 commonName VAR_064730
VAR_064731 commonName VAR_064731
VAR_064733 commonName VAR_064733
VAR_064734 commonName VAR_064734
VAR_064735 commonName VAR_064735
VAR_064736 commonName VAR_064736
VAR_064737 commonName VAR_064737
VAR_064738 commonName VAR_064738
VAR_064739 commonName VAR_064739
VAR_064741 commonName VAR_064741
VAR_064742 commonName VAR_064742
VAR_064743 commonName VAR_064743
VAR_064744 commonName VAR_064744
VAR_064745 commonName VAR_064745
VAR_064746 commonName VAR_064746
VAR_064747 commonName VAR_064747
VAR_064748 commonName VAR_064748
VAR_064749 commonName VAR_064749
VAR_064751 commonName VAR_064751
VAR_064752 commonName VAR_064752
VAR_064753 commonName VAR_064753
VAR_064754 commonName VAR_064754
VAR_064755 commonName VAR_064755
VAR_064756 commonName VAR_064756
VAR_064757 commonName VAR_064757
VAR_064758 commonName VAR_064758
VAR_064759 commonName VAR_064759
VAR_064760 commonName VAR_064760
VAR_064761 commonName VAR_064761
VAR_064762 commonName VAR_064762
VAR_064766 commonName VAR_064766
VAR_064766 disease not phenotype-associated
VAR_064767 commonName VAR_064767
VAR_064767 disease not phenotype-associated
VAR_064769 commonName VAR_064769
VAR_064769 disease not phenotype-associated
VAR_064770 commonName VAR_064770
VAR_064771 commonName VAR_064771
VAR_064773 commonName VAR_064773
VAR_064773 disease phenotype-associated
VAR_064773 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064774 commonName VAR_064774
VAR_064774 disease phenotype-associated
VAR_064774 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064775 commonName VAR_064775
VAR_064775 disease phenotype-associated
VAR_064775 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064776 commonName VAR_064776
VAR_064776 disease phenotype-associated
VAR_064776 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064777 commonName VAR_064777
VAR_064777 disease phenotype-associated
VAR_064777 phenoCommon Dent disease type 2 (DD2) [MIM:300555]
VAR_064778 commonName VAR_064778
VAR_064778 disease phenotype-associated
VAR_064778 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064779 commonName VAR_064779
VAR_064779 disease phenotype-associated
VAR_064779 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064780 commonName VAR_064780
VAR_064780 disease phenotype-associated
VAR_064780 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064781 commonName VAR_064781
VAR_064781 disease phenotype-associated
VAR_064781 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064782 commonName VAR_064782
VAR_064782 disease phenotype-associated
VAR_064782 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064783 commonName VAR_064783
VAR_064783 disease phenotype-associated
VAR_064783 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064784 commonName VAR_064784
VAR_064784 disease phenotype-associated
VAR_064784 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064785 commonName VAR_064785
VAR_064785 disease phenotype-associated
VAR_064785 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064786 commonName VAR_064786
VAR_064786 disease phenotype-associated
VAR_064786 phenoCommon Dent disease type 2 (DD2) [MIM:300555]
VAR_064787 commonName VAR_064787
VAR_064787 disease phenotype-associated
VAR_064787 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064788 commonName VAR_064788
VAR_064788 disease phenotype-associated
VAR_064788 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064789 commonName VAR_064789
VAR_064789 disease phenotype-associated
VAR_064789 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064790 commonName VAR_064790
VAR_064790 disease phenotype-associated
VAR_064790 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064792 commonName VAR_064792
VAR_064792 disease phenotype-associated
VAR_064792 phenoCommon Dent disease type 2 (DD2) [MIM:300555]
VAR_064793 commonName VAR_064793
VAR_064793 disease phenotype-associated
VAR_064793 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064794 commonName VAR_064794
VAR_064794 disease phenotype-associated
VAR_064794 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
VAR_064795 commonName VAR_064795
VAR_064795 disease phenotype-associated
VAR_064795 phenoCommon Hyperglycinuria (HG) [MIM:138500]
VAR_064795 phenoCommon Iminoglycinuria (IG) [MIM:242600]
VAR_064796 commonName VAR_064796
VAR_064796 disease not phenotype-associated
VAR_064797 commonName VAR_064797
VAR_064797 disease not phenotype-associated
VAR_064798 commonName VAR_064798
VAR_064798 disease phenotype-associated
VAR_064798 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640]
VAR_064799 commonName VAR_064799
VAR_064799 disease phenotype-associated
VAR_064799 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640]
VAR_064800 commonName VAR_064800
VAR_064800 disease phenotype-associated
VAR_064800 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640]
VAR_064801 commonName VAR_064801
VAR_064801 disease phenotype-associated
VAR_064801 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064802 commonName VAR_064802
VAR_064802 disease phenotype-associated
VAR_064802 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064803 commonName VAR_064803
VAR_064803 disease phenotype-associated
VAR_064803 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064804 commonName VAR_064804
VAR_064804 disease phenotype-associated
VAR_064804 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064805 commonName VAR_064805
VAR_064805 disease phenotype-associated
VAR_064805 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064806 commonName VAR_064806
VAR_064806 disease phenotype-associated
VAR_064806 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064807 commonName VAR_064807
VAR_064807 disease phenotype-associated
VAR_064807 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064808 commonName VAR_064808
VAR_064808 disease phenotype-associated
VAR_064808 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064809 commonName VAR_064809
VAR_064809 disease phenotype-associated
VAR_064809 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064810 commonName VAR_064810
VAR_064810 disease phenotype-associated
VAR_064810 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064811 commonName VAR_064811
VAR_064811 disease phenotype-associated
VAR_064811 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064813 commonName VAR_064813
VAR_064813 disease phenotype-associated
VAR_064813 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064814 commonName VAR_064814
VAR_064814 disease phenotype-associated
VAR_064814 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064816 commonName VAR_064816
VAR_064816 disease phenotype-associated
VAR_064816 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064817 commonName VAR_064817
VAR_064817 disease phenotype-associated
VAR_064817 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064818 commonName VAR_064818
VAR_064818 disease phenotype-associated
VAR_064818 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064819 commonName VAR_064819
VAR_064819 disease phenotype-associated
VAR_064819 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064820 commonName VAR_064820
VAR_064820 disease phenotype-associated
VAR_064820 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064821 commonName VAR_064821
VAR_064821 disease phenotype-associated
VAR_064821 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064822 commonName VAR_064822
VAR_064822 disease phenotype-associated
VAR_064822 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064823 commonName VAR_064823
VAR_064823 disease phenotype-associated
VAR_064823 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064824 commonName VAR_064824
VAR_064824 disease phenotype-associated
VAR_064824 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]
VAR_064827 commonName VAR_064827
VAR_064827 disease phenotype-associated
VAR_064827 phenoCommon Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]
VAR_064828 commonName VAR_064828
VAR_064828 disease phenotype-associated
VAR_064828 phenoCommon Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]
VAR_064829 commonName VAR_064829
VAR_064829 disease phenotype-associated
VAR_064829 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_064830 commonName VAR_064830
VAR_064830 disease phenotype-associated
VAR_064830 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064831 commonName VAR_064831
VAR_064831 disease phenotype-associated
VAR_064831 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064833 commonName VAR_064833
VAR_064833 disease phenotype-associated
VAR_064833 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064834 commonName VAR_064834
VAR_064834 disease phenotype-associated
VAR_064834 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064835 commonName VAR_064835
VAR_064835 disease phenotype-associated
VAR_064835 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064837 commonName VAR_064837
VAR_064837 disease phenotype-associated
VAR_064837 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064838 commonName VAR_064838
VAR_064838 disease phenotype-associated
VAR_064838 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
VAR_064839 commonName VAR_064839
VAR_064840 commonName VAR_064840
VAR_064840 disease phenotype-associated
VAR_064840 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064842 commonName VAR_064842
VAR_064842 disease phenotype-associated
VAR_064842 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064843 commonName VAR_064843
VAR_064843 disease phenotype-associated
VAR_064843 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064844 commonName VAR_064844
VAR_064844 disease phenotype-associated
VAR_064844 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064845 commonName VAR_064845
VAR_064845 disease phenotype-associated
VAR_064845 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064846 commonName VAR_064846
VAR_064846 disease phenotype-associated
VAR_064846 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064847 commonName VAR_064847
VAR_064847 disease phenotype-associated
VAR_064847 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064848 commonName VAR_064848
VAR_064848 disease phenotype-associated
VAR_064848 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_064849 commonName VAR_064849
VAR_064849 disease phenotype-associated
VAR_064849 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_064850 commonName VAR_064850
VAR_064850 disease phenotype-associated
VAR_064850 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_064851 commonName VAR_064851
VAR_064851 disease phenotype-associated
VAR_064851 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_064852 commonName VAR_064852
VAR_064852 disease phenotype-associated
VAR_064852 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_064853 commonName VAR_064853
VAR_064853 disease phenotype-associated
VAR_064853 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_064854 commonName VAR_064854
VAR_064854 disease phenotype-associated
VAR_064854 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_064855 commonName VAR_064855
VAR_064856 commonName VAR_064856
VAR_064858 commonName VAR_064858
VAR_064858 disease phenotype-associated
VAR_064858 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064860 commonName VAR_064860
VAR_064860 disease phenotype-associated
VAR_064860 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064861 commonName VAR_064861
VAR_064861 disease phenotype-associated
VAR_064861 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064862 commonName VAR_064862
VAR_064862 disease phenotype-associated
VAR_064862 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064863 commonName VAR_064863
VAR_064863 disease phenotype-associated
VAR_064863 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064864 commonName VAR_064864
VAR_064864 disease phenotype-associated
VAR_064864 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064865 commonName VAR_064865
VAR_064865 disease phenotype-associated
VAR_064865 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064866 commonName VAR_064866
VAR_064866 disease phenotype-associated
VAR_064866 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064867 commonName VAR_064867
VAR_064867 disease phenotype-associated
VAR_064867 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064868 commonName VAR_064868
VAR_064868 disease phenotype-associated
VAR_064868 phenoCommon Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500]
VAR_064869 commonName VAR_064869
VAR_064869 disease phenotype-associated
VAR_064869 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064870 commonName VAR_064870
VAR_064870 disease phenotype-associated
VAR_064870 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064871 commonName VAR_064871
VAR_064871 disease phenotype-associated
VAR_064871 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_064872 commonName VAR_064872
VAR_064872 disease not phenotype-associated
VAR_064873 commonName VAR_064873
VAR_064873 disease not phenotype-associated
VAR_064874 commonName VAR_064874
VAR_064874 disease not phenotype-associated
VAR_064875 commonName VAR_064875
VAR_064875 disease not phenotype-associated
VAR_064877 commonName VAR_064877
VAR_064877 disease not phenotype-associated
VAR_064878 commonName VAR_064878
VAR_064878 disease not phenotype-associated
VAR_064879 commonName VAR_064879
VAR_064879 disease not phenotype-associated
VAR_064880 commonName VAR_064880
VAR_064880 disease not phenotype-associated
VAR_064881 commonName VAR_064881
VAR_064881 disease not phenotype-associated
VAR_064882 commonName VAR_064882
VAR_064882 disease not phenotype-associated
VAR_064883 commonName VAR_064883
VAR_064883 disease not phenotype-associated
VAR_064884 commonName VAR_064884
VAR_064884 disease not phenotype-associated
VAR_064885 commonName VAR_064885
VAR_064885 disease not phenotype-associated
VAR_064886 commonName VAR_064886
VAR_064886 disease not phenotype-associated
VAR_064888 commonName VAR_064888
VAR_064888 disease phenotype-associated
VAR_064888 phenoCommon Spinocerebellar ataxia autosomal recessive type 10 (SCAR10) [MIM:613728]
VAR_064889 commonName VAR_064889
VAR_064889 disease phenotype-associated
VAR_064889 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273]
VAR_064890 commonName VAR_064890
VAR_064890 disease phenotype-associated
VAR_064890 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273]
VAR_064891 commonName VAR_064891
VAR_064891 disease phenotype-associated
VAR_064891 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273]
VAR_064892 commonName VAR_064892
VAR_064892 disease phenotype-associated
VAR_064892 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064893 commonName VAR_064893
VAR_064893 disease phenotype-associated
VAR_064893 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064894 commonName VAR_064894
VAR_064894 disease phenotype-associated
VAR_064894 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064895 commonName VAR_064895
VAR_064895 disease phenotype-associated
VAR_064895 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064896 commonName VAR_064896
VAR_064896 disease phenotype-associated
VAR_064896 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064897 commonName VAR_064897
VAR_064897 disease phenotype-associated
VAR_064897 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064898 commonName VAR_064898
VAR_064898 disease phenotype-associated
VAR_064898 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717]
VAR_064899 commonName VAR_064899
VAR_064899 disease phenotype-associated
VAR_064899 phenoCommon Treacher Collins syndrome type 3 (TCS3) [MIM:248390]
VAR_064900 commonName VAR_064900
VAR_064900 disease phenotype-associated
VAR_064900 phenoCommon Treacher Collins syndrome type 3 (TCS3) [MIM:248390]
VAR_064901 commonName VAR_064901
VAR_064901 disease phenotype-associated
VAR_064901 phenoCommon Congenital dyserythropoietic anemia type 4 (CDA4) [MIM:613673]
VAR_064902 commonName VAR_064902
VAR_064902 disease phenotype-associated
VAR_064902 phenoCommon Cardiomyopathy dilated type 1U (CMD1U) [MIM:613694]
VAR_064903 commonName VAR_064903
VAR_064903 disease phenotype-associated
VAR_064903 phenoCommon Cardiomyopathy dilated type 1V (CMD1V) [MIM:613697]
VAR_064904 commonName VAR_064904
VAR_064904 disease phenotype-associated
VAR_064904 phenoCommon Deafness autosomal recessive type 74 (DFNB74) [MIM:613718]
VAR_064907 commonName VAR_064907
VAR_064907 disease phenotype-associated
VAR_064907 phenoCommon Spastic ataxia autosomal recessive type 4 (SPAX4) [MIM:613672]
VAR_064908 commonName VAR_064908
VAR_064908 disease phenotype-associated
VAR_064908 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
VAR_064909 commonName VAR_064909
VAR_064910 commonName VAR_064910
VAR_064910 disease phenotype-associated
VAR_064910 phenoCommon Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]
VAR_064911 commonName VAR_064911
VAR_064911 disease phenotype-associated
VAR_064911 phenoCommon Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641]
VAR_064912 commonName VAR_064912
VAR_064912 disease phenotype-associated
VAR_064912 phenoCommon Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641]
VAR_064913 commonName VAR_064913
VAR_064913 disease phenotype-associated
VAR_064913 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245]
VAR_064914 commonName VAR_064914
VAR_064914 disease phenotype-associated
VAR_064914 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245]
VAR_064915 commonName VAR_064915
VAR_064915 disease phenotype-associated
VAR_064915 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245]
VAR_064916 commonName VAR_064916
VAR_064916 disease phenotype-associated
VAR_064916 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245]
VAR_064917 commonName VAR_064917
VAR_064917 disease not phenotype-associated
VAR_064918 commonName VAR_064918
VAR_064918 disease not phenotype-associated
VAR_064919 commonName VAR_064919
VAR_064919 disease not phenotype-associated
VAR_064920 commonName VAR_064920
VAR_064920 disease not phenotype-associated
VAR_064921 commonName VAR_064921
VAR_064921 disease phenotype-associated
VAR_064921 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686]
VAR_064922 commonName VAR_064922
VAR_064922 disease phenotype-associated
VAR_064922 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686]
VAR_064923 commonName VAR_064923
VAR_064923 disease phenotype-associated
VAR_064923 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686]
VAR_064925 commonName VAR_064925
VAR_064925 disease phenotype-associated
VAR_064925 phenoCommon Von Willebrand disease type 1 (VWD1) [MIM:193400]
VAR_064926 commonName VAR_064926
VAR_064926 disease phenotype-associated
VAR_064926 phenoCommon Retinitis pigmentosa type 58 (RP58) [MIM:613617]
VAR_064927 commonName VAR_064927
VAR_064929 commonName VAR_064929
VAR_064930 commonName VAR_064930
VAR_064931 commonName VAR_064931
VAR_064932 commonName VAR_064932
VAR_064933 commonName VAR_064933
VAR_064934 commonName VAR_064934
VAR_064935 commonName VAR_064935
VAR_064936 commonName VAR_064936
VAR_064936 disease phenotype-associated
VAR_064936 phenoCommon Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]
VAR_064937 commonName VAR_064937
VAR_064939 commonName VAR_064939
VAR_064939 disease phenotype-associated
VAR_064939 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_064940 commonName VAR_064940
VAR_064940 disease phenotype-associated
VAR_064940 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456]
VAR_064942 commonName VAR_064942
VAR_064942 disease phenotype-associated
VAR_064942 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064943 commonName VAR_064943
VAR_064943 disease phenotype-associated
VAR_064943 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064944 commonName VAR_064944
VAR_064944 disease phenotype-associated
VAR_064944 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064945 commonName VAR_064945
VAR_064945 disease phenotype-associated
VAR_064945 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064946 commonName VAR_064946
VAR_064946 disease phenotype-associated
VAR_064946 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064947 commonName VAR_064947
VAR_064947 disease phenotype-associated
VAR_064947 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
VAR_064948 commonName VAR_064948
VAR_064948 disease phenotype-associated
VAR_064948 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064949 commonName VAR_064949
VAR_064949 disease phenotype-associated
VAR_064949 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064950 commonName VAR_064950
VAR_064950 disease phenotype-associated
VAR_064950 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064951 commonName VAR_064951
VAR_064951 disease phenotype-associated
VAR_064951 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064952 commonName VAR_064952
VAR_064952 disease phenotype-associated
VAR_064952 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064953 commonName VAR_064953
VAR_064953 disease phenotype-associated
VAR_064953 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389]
VAR_064954 commonName VAR_064954
VAR_064956 commonName VAR_064956
VAR_064956 disease phenotype-associated
VAR_064956 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_064957 commonName VAR_064957
VAR_064957 disease phenotype-associated
VAR_064957 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_064958 commonName VAR_064958
VAR_064958 disease phenotype-associated
VAR_064958 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_064959 commonName VAR_064959
VAR_064959 disease phenotype-associated
VAR_064959 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_064960 commonName VAR_064960
VAR_064960 disease phenotype-associated
VAR_064960 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]
VAR_064961 commonName VAR_064961
VAR_064961 disease phenotype-associated
VAR_064961 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]
VAR_064962 commonName VAR_064962
VAR_064962 disease phenotype-associated
VAR_064962 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064964 commonName VAR_064964
VAR_064964 disease phenotype-associated
VAR_064964 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064965 commonName VAR_064965
VAR_064965 disease phenotype-associated
VAR_064965 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064966 commonName VAR_064966
VAR_064966 disease phenotype-associated
VAR_064966 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064967 commonName VAR_064967
VAR_064967 disease phenotype-associated
VAR_064967 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064968 commonName VAR_064968
VAR_064968 disease phenotype-associated
VAR_064968 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064970 commonName VAR_064970
VAR_064970 disease phenotype-associated
VAR_064970 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064971 commonName VAR_064971
VAR_064971 disease phenotype-associated
VAR_064971 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064972 commonName VAR_064972
VAR_064972 disease phenotype-associated
VAR_064972 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064973 commonName VAR_064973
VAR_064973 disease phenotype-associated
VAR_064973 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064974 commonName VAR_064974
VAR_064974 disease phenotype-associated
VAR_064974 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064975 commonName VAR_064975
VAR_064975 disease phenotype-associated
VAR_064975 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064976 commonName VAR_064976
VAR_064976 disease phenotype-associated
VAR_064976 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]
VAR_064977 commonName VAR_064977
VAR_064977 disease phenotype-associated
VAR_064977 phenoCommon Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080]
VAR_064978 commonName VAR_064978
VAR_064978 disease phenotype-associated
VAR_064978 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064979 commonName VAR_064979
VAR_064979 disease phenotype-associated
VAR_064979 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064980 commonName VAR_064980
VAR_064980 disease phenotype-associated
VAR_064980 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064981 commonName VAR_064981
VAR_064981 disease phenotype-associated
VAR_064981 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064982 commonName VAR_064982
VAR_064982 disease phenotype-associated
VAR_064982 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064983 commonName VAR_064983
VAR_064983 disease phenotype-associated
VAR_064983 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064984 commonName VAR_064984
VAR_064984 disease phenotype-associated
VAR_064984 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064985 commonName VAR_064985
VAR_064985 disease phenotype-associated
VAR_064985 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_064986 commonName VAR_064986
VAR_064987 commonName VAR_064987
VAR_064987 disease phenotype-associated
VAR_064987 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]
VAR_064987 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500]
VAR_064988 commonName VAR_064988
VAR_064988 disease not phenotype-associated
VAR_064989 commonName VAR_064989
VAR_064989 disease not phenotype-associated
VAR_064990 commonName VAR_064990
VAR_064991 commonName VAR_064991
VAR_064992 commonName VAR_064992
VAR_064992 disease phenotype-associated
VAR_064992 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_064993 commonName VAR_064993
VAR_064993 disease phenotype-associated
VAR_064993 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]
VAR_064994 commonName VAR_064994
VAR_064994 disease phenotype-associated
VAR_064994 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_064995 commonName VAR_064995
VAR_064995 disease phenotype-associated
VAR_064995 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_064996 commonName VAR_064996
VAR_064996 disease phenotype-associated
VAR_064996 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_064997 commonName VAR_064997
VAR_064997 disease phenotype-associated
VAR_064997 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
VAR_064998 commonName VAR_064998
VAR_064999 commonName VAR_064999
VAR_064999 disease phenotype-associated
VAR_064999 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_065000 commonName VAR_065000
VAR_065000 disease phenotype-associated
VAR_065000 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_065001 commonName VAR_065001
VAR_065001 disease phenotype-associated
VAR_065001 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
VAR_065002 commonName VAR_065002
VAR_065002 disease phenotype-associated
VAR_065002 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065003 commonName VAR_065003
VAR_065003 disease phenotype-associated
VAR_065003 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065004 commonName VAR_065004
VAR_065004 disease phenotype-associated
VAR_065004 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065006 commonName VAR_065006
VAR_065006 disease not phenotype-associated
VAR_065007 commonName VAR_065007
VAR_065007 disease phenotype-associated
VAR_065007 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065009 commonName VAR_065009
VAR_065009 disease phenotype-associated
VAR_065009 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065010 commonName VAR_065010
VAR_065010 disease phenotype-associated
VAR_065010 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065011 commonName VAR_065011
VAR_065011 disease phenotype-associated
VAR_065011 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065012 commonName VAR_065012
VAR_065012 disease phenotype-associated
VAR_065012 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065013 commonName VAR_065013
VAR_065013 disease phenotype-associated
VAR_065013 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065014 commonName VAR_065014
VAR_065014 disease phenotype-associated
VAR_065014 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065016 commonName VAR_065016
VAR_065016 disease phenotype-associated
VAR_065016 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]
VAR_065017 commonName VAR_065017
VAR_065017 disease not phenotype-associated
VAR_065018 commonName VAR_065018
VAR_065021 commonName VAR_065021
VAR_065021 disease phenotype-associated
VAR_065021 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_065022 commonName VAR_065022
VAR_065022 disease phenotype-associated
VAR_065022 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_065023 commonName VAR_065023
VAR_065023 disease phenotype-associated
VAR_065023 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_065024 commonName VAR_065024
VAR_065024 disease phenotype-associated
VAR_065024 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]
VAR_065027 commonName VAR_065027
VAR_065027 disease phenotype-associated
VAR_065027 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]
VAR_065028 commonName VAR_065028
VAR_065028 disease phenotype-associated
VAR_065028 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_065029 commonName VAR_065029
VAR_065029 disease phenotype-associated
VAR_065029 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_065031 commonName VAR_065031
VAR_065031 disease phenotype-associated
VAR_065031 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]
VAR_065032 commonName VAR_065032
VAR_065032 disease not phenotype-associated
VAR_065033 commonName VAR_065033
VAR_065033 disease not phenotype-associated
VAR_065034 commonName VAR_065034
VAR_065034 disease phenotype-associated
VAR_065034 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]
VAR_065035 commonName VAR_065035
VAR_065035 disease phenotype-associated
VAR_065035 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]
VAR_065036 commonName VAR_065036
VAR_065036 disease phenotype-associated
VAR_065036 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]
VAR_065037 commonName VAR_065037
VAR_065037 disease phenotype-associated
VAR_065037 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2) [MIM:613158]
VAR_065038 commonName VAR_065038
VAR_065038 disease phenotype-associated
VAR_065038 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150]
VAR_065039 commonName VAR_065039
VAR_065039 disease phenotype-associated
VAR_065039 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156]
VAR_065040 commonName VAR_065040
VAR_065040 disease phenotype-associated
VAR_065040 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150]
VAR_065041 commonName VAR_065041
VAR_065041 disease phenotype-associated
VAR_065041 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150]
VAR_065042 commonName VAR_065042
VAR_065042 disease phenotype-associated
VAR_065042 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150]
VAR_065050 commonName VAR_065050
VAR_065050 disease phenotype-associated
VAR_065050 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
VAR_065051 commonName VAR_065051
VAR_065051 disease phenotype-associated
VAR_065051 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]
VAR_065052 commonName VAR_065052
VAR_065052 disease phenotype-associated
VAR_065052 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
VAR_065053 commonName VAR_065053
VAR_065053 disease phenotype-associated
VAR_065053 phenoCommon Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]
VAR_065055 commonName VAR_065055
VAR_065055 disease phenotype-associated
VAR_065055 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065056 commonName VAR_065056
VAR_065056 disease phenotype-associated
VAR_065056 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065057 commonName VAR_065057
VAR_065057 disease phenotype-associated
VAR_065057 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065058 commonName VAR_065058
VAR_065058 disease phenotype-associated
VAR_065058 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065059 commonName VAR_065059
VAR_065059 disease phenotype-associated
VAR_065059 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065060 commonName VAR_065060
VAR_065060 disease phenotype-associated
VAR_065060 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065061 commonName VAR_065061
VAR_065061 disease phenotype-associated
VAR_065061 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065062 commonName VAR_065062
VAR_065062 disease phenotype-associated
VAR_065062 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
VAR_065063 commonName VAR_065063
VAR_065063 disease phenotype-associated
VAR_065063 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
VAR_065064 commonName VAR_065064
VAR_065064 disease phenotype-associated
VAR_065064 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154]
VAR_065065 commonName VAR_065065
VAR_065065 disease phenotype-associated
VAR_065065 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154]
VAR_065066 commonName VAR_065066
VAR_065066 disease phenotype-associated
VAR_065066 phenoCommon Microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) [MIM:613668]
VAR_065067 commonName VAR_065067
VAR_065067 disease not phenotype-associated
VAR_065068 commonName VAR_065068
VAR_065068 disease not phenotype-associated
VAR_065069 commonName VAR_065069
VAR_065069 disease not phenotype-associated
VAR_065070 commonName VAR_065070
VAR_065070 disease not phenotype-associated
VAR_065071 commonName VAR_065071
VAR_065071 disease not phenotype-associated
VAR_065072 commonName VAR_065072
VAR_065072 disease not phenotype-associated
VAR_065073 commonName VAR_065073
VAR_065073 disease not phenotype-associated
VAR_065076 commonName VAR_065076
VAR_065076 disease phenotype-associated
VAR_065076 phenoCommon Microphthalmia isolated type 6 (MCOP6) [MIM:613517]
VAR_065077 commonName VAR_065077
VAR_065077 disease phenotype-associated
VAR_065077 phenoCommon Microphthalmia isolated type 6 (MCOP6) [MIM:613517]
VAR_065085 commonName VAR_065085
VAR_065085 disease phenotype-associated
VAR_065085 phenoCommon Mental retardation autosomal dominant type 13 (MRD13) [MIM:614563]
VAR_065086 commonName VAR_065086
VAR_065087 commonName VAR_065087
VAR_065088 commonName VAR_065088
VAR_065089 commonName VAR_065089
VAR_065090 commonName VAR_065090
VAR_065091 commonName VAR_065091
VAR_065092 commonName VAR_065092
VAR_065092 disease phenotype-associated
VAR_065092 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700]
VAR_065093 commonName VAR_065093
VAR_065093 disease not phenotype-associated
VAR_065094 commonName VAR_065094
VAR_065094 disease not phenotype-associated
VAR_065095 commonName VAR_065095
VAR_065095 disease not phenotype-associated
VAR_065096 commonName VAR_065096
VAR_065096 disease not phenotype-associated
VAR_065097 commonName VAR_065097
VAR_065097 disease not phenotype-associated
VAR_065098 commonName VAR_065098
VAR_065098 disease not phenotype-associated
VAR_065099 commonName VAR_065099
VAR_065099 disease not phenotype-associated
VAR_065100 commonName VAR_065100
VAR_065100 disease not phenotype-associated
VAR_065102 commonName VAR_065102
VAR_065102 disease phenotype-associated
VAR_065102 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065103 commonName VAR_065103
VAR_065103 disease phenotype-associated
VAR_065103 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065104 commonName VAR_065104
VAR_065104 disease phenotype-associated
VAR_065104 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]
VAR_065105 commonName VAR_065105
VAR_065105 disease phenotype-associated
VAR_065105 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065106 commonName VAR_065106
VAR_065106 disease phenotype-associated
VAR_065106 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065107 commonName VAR_065107
VAR_065107 disease phenotype-associated
VAR_065107 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]
VAR_065108 commonName VAR_065108
VAR_065108 disease phenotype-associated
VAR_065108 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065109 commonName VAR_065109
VAR_065109 disease phenotype-associated
VAR_065109 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065110 commonName VAR_065110
VAR_065110 disease phenotype-associated
VAR_065110 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065111 commonName VAR_065111
VAR_065111 disease phenotype-associated
VAR_065111 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065112 commonName VAR_065112
VAR_065112 disease phenotype-associated
VAR_065112 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065113 commonName VAR_065113
VAR_065113 disease phenotype-associated
VAR_065113 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065114 commonName VAR_065114
VAR_065114 disease phenotype-associated
VAR_065114 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065115 commonName VAR_065115
VAR_065115 disease phenotype-associated
VAR_065115 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065116 commonName VAR_065116
VAR_065116 disease phenotype-associated
VAR_065116 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065117 commonName VAR_065117
VAR_065117 disease phenotype-associated
VAR_065117 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065118 commonName VAR_065118
VAR_065118 disease phenotype-associated
VAR_065118 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
VAR_065119 commonName VAR_065119
VAR_065119 disease phenotype-associated
VAR_065119 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]
VAR_065120 commonName VAR_065120
VAR_065120 disease phenotype-associated
VAR_065120 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]
VAR_065121 commonName VAR_065121
VAR_065121 disease phenotype-associated
VAR_065121 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]
VAR_065122 commonName VAR_065122
VAR_065122 disease phenotype-associated
VAR_065122 phenoCommon Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075]
VAR_065123 commonName VAR_065123
VAR_065123 disease phenotype-associated
VAR_065123 phenoCommon Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075]
VAR_065124 commonName VAR_065124
VAR_065124 disease phenotype-associated
VAR_065124 phenoCommon Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]
VAR_065125 commonName VAR_065125
VAR_065125 disease phenotype-associated
VAR_065125 phenoCommon Striatal necrosis bilateral and progressive polyneuropathy (SNBPP) [MIM:613710]
VAR_065128 commonName VAR_065128
VAR_065128 disease phenotype-associated
VAR_065128 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_065129 commonName VAR_065129
VAR_065129 disease phenotype-associated
VAR_065129 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_065130 commonName VAR_065130
VAR_065130 disease phenotype-associated
VAR_065130 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_065131 commonName VAR_065131
VAR_065131 disease phenotype-associated
VAR_065131 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_065132 commonName VAR_065132
VAR_065132 disease phenotype-associated
VAR_065132 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
VAR_065133 commonName VAR_065133
VAR_065134 commonName VAR_065134
VAR_065134 disease phenotype-associated
VAR_065134 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_065135 commonName VAR_065135
VAR_065135 disease phenotype-associated
VAR_065135 phenoCommon Gastric cancer (GASC) [MIM:613659]
VAR_065136 commonName VAR_065136
VAR_065137 commonName VAR_065137
VAR_065138 commonName VAR_065138
VAR_065139 commonName VAR_065139
VAR_065140 commonName VAR_065140
VAR_065141 commonName VAR_065141
VAR_065142 commonName VAR_065142
VAR_065143 commonName VAR_065143
VAR_065144 commonName VAR_065144
VAR_065144 disease phenotype-associated
VAR_065144 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_065145 commonName VAR_065145
VAR_065145 disease phenotype-associated
VAR_065145 phenoCommon Pylocytic astrocytoma (PA)
VAR_065146 commonName VAR_065146
VAR_065146 disease phenotype-associated
VAR_065146 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942]
VAR_065147 commonName VAR_065147
VAR_065147 disease phenotype-associated
VAR_065147 phenoCommon Microphthalmia isolated type 7 (MCOP7) [MIM:613704]
VAR_065148 commonName VAR_065148
VAR_065148 disease phenotype-associated
VAR_065148 phenoCommon Klippel-Feil syndrome type 3 (KFS3) [MIM:613702]
VAR_065148 phenoCommon Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703]
VAR_065149 commonName VAR_065149
VAR_065149 disease phenotype-associated
VAR_065149 phenoCommon Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703]
VAR_065150 commonName VAR_065150
VAR_065150 disease phenotype-associated
VAR_065150 phenoCommon Microphthalmia isolated type 7 (MCOP7) [MIM:613704]
VAR_065151 commonName VAR_065151
VAR_065153 commonName VAR_065153
VAR_065153 disease phenotype-associated
VAR_065153 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_065154 comment Parathyroid tumors
VAR_065154 commonName VAR_065154
VAR_065155 commonName VAR_065155
VAR_065155 disease phenotype-associated
VAR_065155 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_065156 commonName VAR_065156
VAR_065156 disease phenotype-associated
VAR_065156 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
VAR_065157 commonName VAR_065157
VAR_065157 disease phenotype-associated
VAR_065157 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]
VAR_065158 commonName VAR_065158
VAR_065158 disease phenotype-associated
VAR_065158 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
VAR_065159 commonName VAR_065159
VAR_065159 disease phenotype-associated
VAR_065159 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
VAR_065160 commonName VAR_065160
VAR_065160 disease phenotype-associated
VAR_065160 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
VAR_065161 commonName VAR_065161
VAR_065161 disease phenotype-associated
VAR_065161 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
VAR_065162 commonName VAR_065162
VAR_065162 disease not phenotype-associated
VAR_065163 commonName VAR_065163
VAR_065163 disease not phenotype-associated
VAR_065164 commonName VAR_065164
VAR_065164 disease phenotype-associated
VAR_065164 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_065165 commonName VAR_065165
VAR_065165 disease phenotype-associated
VAR_065165 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200]
VAR_065166 commonName VAR_065166
VAR_065166 disease not phenotype-associated
VAR_065169 commonName VAR_065169
VAR_065169 disease phenotype-associated
VAR_065169 phenoCommon Vesicoureteral reflux type 3 (VUR3) [MIM:613674]
VAR_065170 commonName VAR_065170
VAR_065170 disease phenotype-associated
VAR_065170 phenoCommon Vesicoureteral reflux type 3 (VUR3) [MIM:613674]
VAR_065171 commonName VAR_065171
VAR_065171 disease phenotype-associated
VAR_065171 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_065172 commonName VAR_065172
VAR_065172 disease phenotype-associated
VAR_065172 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_065173 commonName VAR_065173
VAR_065173 disease phenotype-associated
VAR_065173 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
VAR_065174 commonName VAR_065174
VAR_065174 disease phenotype-associated
VAR_065174 phenoCommon D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657]
VAR_065175 commonName VAR_065175
VAR_065175 disease phenotype-associated
VAR_065175 phenoCommon D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657]
VAR_065176 commonName VAR_065176
VAR_065176 disease phenotype-associated
VAR_065176 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_065177 commonName VAR_065177
VAR_065177 disease phenotype-associated
VAR_065177 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]
VAR_065178 commonName VAR_065178
VAR_065178 disease phenotype-associated
VAR_065178 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]
VAR_065179 commonName VAR_065179
VAR_065180 commonName VAR_065180
VAR_065180 disease phenotype-associated
VAR_065180 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]
VAR_065181 commonName VAR_065181
VAR_065181 disease phenotype-associated
VAR_065181 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]
VAR_065182 commonName VAR_065182
VAR_065182 disease phenotype-associated
VAR_065182 phenoCommon Retinitis pigmentosa type 26 (RP26) [MIM:608380]
VAR_065185 commonName VAR_065185
VAR_065185 disease phenotype-associated
VAR_065185 phenoCommon Calcification of joints and arteries (CALJA) [MIM:211800]
VAR_065186 commonName VAR_065186
VAR_065186 disease not phenotype-associated
VAR_065187 commonName VAR_065187
VAR_065187 disease not phenotype-associated
VAR_065188 commonName VAR_065188
VAR_065188 disease not phenotype-associated
VAR_065189 commonName VAR_065189
VAR_065189 disease phenotype-associated
VAR_065189 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_065190 commonName VAR_065190
VAR_065190 disease phenotype-associated
VAR_065190 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_065191 commonName VAR_065191
VAR_065191 disease phenotype-associated
VAR_065191 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_065192 commonName VAR_065192
VAR_065192 disease phenotype-associated
VAR_065192 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_065193 commonName VAR_065193
VAR_065193 disease phenotype-associated
VAR_065193 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_065194 commonName VAR_065194
VAR_065194 disease phenotype-associated
VAR_065194 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_065196 commonName VAR_065196
VAR_065196 disease phenotype-associated
VAR_065196 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_065197 commonName VAR_065197
VAR_065197 disease phenotype-associated
VAR_065197 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_065198 commonName VAR_065198
VAR_065199 commonName VAR_065199
VAR_065201 commonName VAR_065201
VAR_065202 commonName VAR_065202
VAR_065203 commonName VAR_065203
VAR_065205 commonName VAR_065205
VAR_065205 disease not phenotype-associated
VAR_065206 commonName VAR_065206
VAR_065206 disease phenotype-associated
VAR_065206 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065207 commonName VAR_065207
VAR_065207 disease phenotype-associated
VAR_065207 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065208 commonName VAR_065208
VAR_065208 disease phenotype-associated
VAR_065208 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065209 commonName VAR_065209
VAR_065209 disease phenotype-associated
VAR_065209 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065210 commonName VAR_065210
VAR_065210 disease phenotype-associated
VAR_065210 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065211 commonName VAR_065211
VAR_065211 disease phenotype-associated
VAR_065211 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065212 commonName VAR_065212
VAR_065212 disease phenotype-associated
VAR_065212 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065213 commonName VAR_065213
VAR_065213 disease phenotype-associated
VAR_065213 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065214 commonName VAR_065214
VAR_065214 disease phenotype-associated
VAR_065214 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065215 commonName VAR_065215
VAR_065215 disease phenotype-associated
VAR_065215 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065215 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065216 commonName VAR_065216
VAR_065216 disease phenotype-associated
VAR_065216 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065217 commonName VAR_065217
VAR_065218 commonName VAR_065218
VAR_065218 disease phenotype-associated
VAR_065218 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065219 commonName VAR_065219
VAR_065219 disease phenotype-associated
VAR_065219 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065219 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065220 commonName VAR_065220
VAR_065220 disease phenotype-associated
VAR_065220 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065221 commonName VAR_065221
VAR_065221 disease phenotype-associated
VAR_065221 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065222 commonName VAR_065222
VAR_065222 disease phenotype-associated
VAR_065222 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065223 commonName VAR_065223
VAR_065223 disease phenotype-associated
VAR_065223 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065224 commonName VAR_065224
VAR_065224 disease phenotype-associated
VAR_065224 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]
VAR_065225 commonName VAR_065225
VAR_065225 disease not phenotype-associated
VAR_065226 commonName VAR_065226
VAR_065227 commonName VAR_065227
VAR_065227 disease phenotype-associated
VAR_065227 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000]
VAR_065228 commonName VAR_065228
VAR_065228 disease phenotype-associated
VAR_065228 phenoCommon Blau syndrome (BS) [MIM:186580]
VAR_065229 commonName VAR_065229
VAR_065230 commonName VAR_065230
VAR_065230 disease phenotype-associated
VAR_065230 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]
VAR_065231 commonName VAR_065231
VAR_065231 disease phenotype-associated
VAR_065231 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
VAR_065232 commonName VAR_065232
VAR_065233 commonName VAR_065233
VAR_065234 commonName VAR_065234
VAR_065235 commonName VAR_065235
VAR_065236 commonName VAR_065236
VAR_065236 disease phenotype-associated
VAR_065236 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]
VAR_065237 commonName VAR_065237
VAR_065237 disease not phenotype-associated
VAR_065238 commonName VAR_065238
VAR_065238 disease not phenotype-associated
VAR_065239 commonName VAR_065239
VAR_065239 disease not phenotype-associated
VAR_065240 commonName VAR_065240
VAR_065240 disease not phenotype-associated
VAR_065241 commonName VAR_065241
VAR_065241 disease phenotype-associated
VAR_065241 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
VAR_065242 commonName VAR_065242
VAR_065242 disease phenotype-associated
VAR_065242 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
VAR_065243 commonName VAR_065243
VAR_065243 disease phenotype-associated
VAR_065243 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
VAR_065245 commonName VAR_065245
VAR_065245 disease phenotype-associated
VAR_065245 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
VAR_065246 commonName VAR_065246
VAR_065246 disease not phenotype-associated
VAR_065248 commonName VAR_065248
VAR_065248 disease not phenotype-associated
VAR_065249 commonName VAR_065249
VAR_065249 disease not phenotype-associated
VAR_065250 commonName VAR_065250
VAR_065250 disease not phenotype-associated
VAR_065251 commonName VAR_065251
VAR_065251 disease not phenotype-associated
VAR_065252 commonName VAR_065252
VAR_065252 disease not phenotype-associated
VAR_065253 commonName VAR_065253
VAR_065253 disease not phenotype-associated
VAR_065254 commonName VAR_065254
VAR_065254 disease not phenotype-associated
VAR_065257 commonName VAR_065257
VAR_065257 disease not phenotype-associated
VAR_065258 commonName VAR_065258
VAR_065258 disease phenotype-associated
VAR_065258 phenoCommon Seckel syndrome type 5 (SCKL5) [MIM:613823]
VAR_065259 commonName VAR_065259
VAR_065259 disease not phenotype-associated
VAR_065260 commonName VAR_065260
VAR_065260 disease phenotype-associated
VAR_065260 phenoCommon Hypomagnesemia type 6 (HOMG6) [MIM:613882]
VAR_065263 commonName VAR_065263
VAR_065263 disease not phenotype-associated
VAR_065264 commonName VAR_065264
VAR_065264 disease not phenotype-associated
VAR_065265 commonName VAR_065265
VAR_065265 disease not phenotype-associated
VAR_065266 commonName VAR_065266
VAR_065266 disease phenotype-associated
VAR_065266 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7) [MIM:613818]
VAR_065267 commonName VAR_065267
VAR_065267 disease not phenotype-associated
VAR_065268 commonName VAR_065268
VAR_065268 disease not phenotype-associated
VAR_065269 commonName VAR_065269
VAR_065269 disease not phenotype-associated
VAR_065270 commonName VAR_065270
VAR_065270 disease not phenotype-associated
VAR_065271 commonName VAR_065271
VAR_065271 disease not phenotype-associated
VAR_065272 commonName VAR_065272
VAR_065272 disease not phenotype-associated
VAR_065273 commonName VAR_065273
VAR_065273 disease phenotype-associated
VAR_065273 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428]
VAR_065274 commonName VAR_065274
VAR_065274 disease not phenotype-associated
VAR_065275 commonName VAR_065275
VAR_065275 disease phenotype-associated
VAR_065275 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428]
VAR_065276 commonName VAR_065276
VAR_065276 disease phenotype-associated
VAR_065276 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428]
VAR_065277 commonName VAR_065277
VAR_065277 disease not phenotype-associated
VAR_065278 commonName VAR_065278
VAR_065278 disease not phenotype-associated
VAR_065279 commonName VAR_065279
VAR_065279 disease not phenotype-associated
VAR_065280 commonName VAR_065280
VAR_065280 disease not phenotype-associated
VAR_065281 commonName VAR_065281
VAR_065281 disease not phenotype-associated
VAR_065282 commonName VAR_065282
VAR_065282 disease not phenotype-associated
VAR_065283 commonName VAR_065283
VAR_065283 disease not phenotype-associated
VAR_065285 commonName VAR_065285
VAR_065285 disease not phenotype-associated
VAR_065286 commonName VAR_065286
VAR_065286 disease not phenotype-associated
VAR_065288 commonName VAR_065288
VAR_065288 disease not phenotype-associated
VAR_065289 commonName VAR_065289
VAR_065289 disease phenotype-associated
VAR_065289 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
VAR_065292 commonName VAR_065292
VAR_065292 disease phenotype-associated
VAR_065292 phenoCommon Hyperchlorhidrosis isolated (HCHLH) [MIM:143860]
VAR_065293 commonName VAR_065293
VAR_065293 disease phenotype-associated
VAR_065293 phenoCommon Smith-McCort dysplasia (SMC) [MIM:607326]
VAR_065294 commonName VAR_065294
VAR_065294 disease phenotype-associated
VAR_065294 phenoCommon Acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000]
VAR_065296 commonName VAR_065296
VAR_065296 disease phenotype-associated
VAR_065296 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150]
VAR_065298 commonName VAR_065298
VAR_065299 commonName VAR_065299
VAR_065300 commonName VAR_065300
VAR_065301 commonName VAR_065301
VAR_065301 disease phenotype-associated
VAR_065301 phenoCommon Goiter multinodular type 1 with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]
VAR_065303 commonName VAR_065303
VAR_065303 disease phenotype-associated
VAR_065303 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065304 commonName VAR_065304
VAR_065304 disease phenotype-associated
VAR_065304 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065305 commonName VAR_065305
VAR_065305 disease phenotype-associated
VAR_065305 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065306 commonName VAR_065306
VAR_065306 disease phenotype-associated
VAR_065306 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065307 commonName VAR_065307
VAR_065307 disease phenotype-associated
VAR_065307 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065308 commonName VAR_065308
VAR_065308 disease phenotype-associated
VAR_065308 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065309 commonName VAR_065309
VAR_065309 disease phenotype-associated
VAR_065309 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065310 commonName VAR_065310
VAR_065310 disease phenotype-associated
VAR_065310 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065311 commonName VAR_065311
VAR_065311 disease phenotype-associated
VAR_065311 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065312 commonName VAR_065312
VAR_065312 disease phenotype-associated
VAR_065312 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065313 commonName VAR_065313
VAR_065313 disease phenotype-associated
VAR_065313 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065314 commonName VAR_065314
VAR_065314 disease phenotype-associated
VAR_065314 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065315 commonName VAR_065315
VAR_065315 disease phenotype-associated
VAR_065315 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065316 commonName VAR_065316
VAR_065316 disease phenotype-associated
VAR_065316 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065317 commonName VAR_065317
VAR_065317 disease phenotype-associated
VAR_065317 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065318 commonName VAR_065318
VAR_065318 disease phenotype-associated
VAR_065318 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065319 commonName VAR_065319
VAR_065319 disease phenotype-associated
VAR_065319 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065320 commonName VAR_065320
VAR_065320 disease phenotype-associated
VAR_065320 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065321 commonName VAR_065321
VAR_065321 disease phenotype-associated
VAR_065321 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065322 commonName VAR_065322
VAR_065322 disease phenotype-associated
VAR_065322 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065323 commonName VAR_065323
VAR_065323 disease phenotype-associated
VAR_065323 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065324 commonName VAR_065324
VAR_065324 disease phenotype-associated
VAR_065324 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065325 commonName VAR_065325
VAR_065325 disease phenotype-associated
VAR_065325 phenoCommon Hemophilia A (HEMA) [MIM:306700]
VAR_065326 commonName VAR_065326
VAR_065326 disease phenotype-associated
VAR_065326 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065327 commonName VAR_065327
VAR_065327 disease phenotype-associated
VAR_065327 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065328 commonName VAR_065328
VAR_065328 disease phenotype-associated
VAR_065328 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065329 commonName VAR_065329
VAR_065329 disease phenotype-associated
VAR_065329 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065330 commonName VAR_065330
VAR_065330 disease phenotype-associated
VAR_065330 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065331 commonName VAR_065331
VAR_065331 disease phenotype-associated
VAR_065331 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700]
VAR_065339 commonName VAR_065339
VAR_065339 disease phenotype-associated
VAR_065339 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065340 commonName VAR_065340
VAR_065340 disease phenotype-associated
VAR_065340 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065341 commonName VAR_065341
VAR_065341 disease phenotype-associated
VAR_065341 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065342 commonName VAR_065342
VAR_065342 disease phenotype-associated
VAR_065342 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065343 commonName VAR_065343
VAR_065343 disease phenotype-associated
VAR_065343 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065344 commonName VAR_065344
VAR_065344 disease phenotype-associated
VAR_065344 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065345 commonName VAR_065345
VAR_065345 disease phenotype-associated
VAR_065345 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065346 commonName VAR_065346
VAR_065346 disease phenotype-associated
VAR_065346 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065347 commonName VAR_065347
VAR_065347 disease phenotype-associated
VAR_065347 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065348 commonName VAR_065348
VAR_065348 disease phenotype-associated
VAR_065348 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065349 commonName VAR_065349
VAR_065349 disease phenotype-associated
VAR_065349 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065350 commonName VAR_065350
VAR_065350 disease phenotype-associated
VAR_065350 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065351 commonName VAR_065351
VAR_065351 disease phenotype-associated
VAR_065351 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]
VAR_065352 commonName VAR_065352
VAR_065352 disease phenotype-associated
VAR_065352 phenoCommon Deafness autosomal recessive type 42 (DFNB42) [MIM:609646]
VAR_065353 commonName VAR_065353
VAR_065354 commonName VAR_065354
VAR_065354 disease not phenotype-associated
VAR_065355 commonName VAR_065355
VAR_065355 disease phenotype-associated
VAR_065355 phenoCommon Retinitis pigmentosa type 48 (RP48) [MIM:613827]
VAR_065356 commonName VAR_065356
VAR_065356 disease phenotype-associated
VAR_065356 phenoCommon Retinitis pigmentosa type 59 (RP59) [MIM:613861]
VAR_065358 commonName VAR_065358
VAR_065358 disease not phenotype-associated
VAR_065360 commonName VAR_065360
VAR_065360 disease phenotype-associated
VAR_065360 phenoCommon Spinocerebellar ataxia type 35 (SCA35) [MIM:613908]
VAR_065361 commonName VAR_065361
VAR_065361 disease phenotype-associated
VAR_065361 phenoCommon Spinocerebellar ataxia type 35 (SCA35) [MIM:613908]
VAR_065362 commonName VAR_065362
VAR_065362 disease phenotype-associated
VAR_065362 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_065363 commonName VAR_065363
VAR_065363 disease phenotype-associated
VAR_065363 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_065364 commonName VAR_065364
VAR_065364 disease phenotype-associated
VAR_065364 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700]
VAR_065365 commonName VAR_065365
VAR_065365 disease phenotype-associated
VAR_065365 phenoCommon Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]
VAR_065366 commonName VAR_065366
VAR_065366 disease phenotype-associated
VAR_065366 phenoCommon Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]
VAR_065367 commonName VAR_065367
VAR_065367 disease phenotype-associated
VAR_065367 phenoCommon Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
VAR_065368 commonName VAR_065368
VAR_065368 disease phenotype-associated
VAR_065368 phenoCommon Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
VAR_065370 commonName VAR_065370
VAR_065370 disease phenotype-associated
VAR_065370 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065371 commonName VAR_065371
VAR_065371 disease phenotype-associated
VAR_065371 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065373 commonName VAR_065373
VAR_065373 disease phenotype-associated
VAR_065373 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065374 commonName VAR_065374
VAR_065374 disease phenotype-associated
VAR_065374 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065375 commonName VAR_065375
VAR_065375 disease phenotype-associated
VAR_065375 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065376 commonName VAR_065376
VAR_065376 disease phenotype-associated
VAR_065376 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065377 commonName VAR_065377
VAR_065377 disease phenotype-associated
VAR_065377 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065378 commonName VAR_065378
VAR_065378 disease phenotype-associated
VAR_065378 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065379 commonName VAR_065379
VAR_065379 disease phenotype-associated
VAR_065379 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065380 commonName VAR_065380
VAR_065380 disease phenotype-associated
VAR_065380 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065381 commonName VAR_065381
VAR_065381 disease phenotype-associated
VAR_065381 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065382 commonName VAR_065382
VAR_065382 disease phenotype-associated
VAR_065382 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065383 commonName VAR_065383
VAR_065383 disease phenotype-associated
VAR_065383 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065384 commonName VAR_065384
VAR_065384 disease phenotype-associated
VAR_065384 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065385 commonName VAR_065385
VAR_065385 disease phenotype-associated
VAR_065385 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065386 commonName VAR_065386
VAR_065386 disease phenotype-associated
VAR_065386 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065387 commonName VAR_065387
VAR_065387 disease phenotype-associated
VAR_065387 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065388 commonName VAR_065388
VAR_065388 disease phenotype-associated
VAR_065388 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065389 commonName VAR_065389
VAR_065389 disease phenotype-associated
VAR_065389 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065390 commonName VAR_065390
VAR_065390 disease phenotype-associated
VAR_065390 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065391 commonName VAR_065391
VAR_065391 disease phenotype-associated
VAR_065391 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065392 commonName VAR_065392
VAR_065392 disease phenotype-associated
VAR_065392 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065393 commonName VAR_065393
VAR_065393 disease phenotype-associated
VAR_065393 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065394 commonName VAR_065394
VAR_065394 disease phenotype-associated
VAR_065394 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065395 commonName VAR_065395
VAR_065395 disease phenotype-associated
VAR_065395 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065396 commonName VAR_065396
VAR_065396 disease phenotype-associated
VAR_065396 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065397 commonName VAR_065397
VAR_065397 disease phenotype-associated
VAR_065397 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065398 commonName VAR_065398
VAR_065398 disease phenotype-associated
VAR_065398 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065399 commonName VAR_065399
VAR_065399 disease phenotype-associated
VAR_065399 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065400 commonName VAR_065400
VAR_065400 disease phenotype-associated
VAR_065400 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065401 commonName VAR_065401
VAR_065401 disease phenotype-associated
VAR_065401 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065402 commonName VAR_065402
VAR_065402 disease phenotype-associated
VAR_065402 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065403 commonName VAR_065403
VAR_065403 disease phenotype-associated
VAR_065403 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065404 commonName VAR_065404
VAR_065404 disease phenotype-associated
VAR_065404 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065405 commonName VAR_065405
VAR_065405 disease phenotype-associated
VAR_065405 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065406 commonName VAR_065406
VAR_065406 disease phenotype-associated
VAR_065406 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065407 commonName VAR_065407
VAR_065407 disease phenotype-associated
VAR_065407 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065408 commonName VAR_065408
VAR_065408 disease phenotype-associated
VAR_065408 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065409 commonName VAR_065409
VAR_065409 disease phenotype-associated
VAR_065409 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065410 commonName VAR_065410
VAR_065410 disease phenotype-associated
VAR_065410 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065411 commonName VAR_065411
VAR_065411 disease phenotype-associated
VAR_065411 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065412 commonName VAR_065412
VAR_065412 disease phenotype-associated
VAR_065412 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065413 commonName VAR_065413
VAR_065413 disease phenotype-associated
VAR_065413 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065414 commonName VAR_065414
VAR_065414 disease phenotype-associated
VAR_065414 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065415 commonName VAR_065415
VAR_065415 disease phenotype-associated
VAR_065415 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065416 commonName VAR_065416
VAR_065416 disease phenotype-associated
VAR_065416 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065417 commonName VAR_065417
VAR_065417 disease phenotype-associated
VAR_065417 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065418 commonName VAR_065418
VAR_065418 disease phenotype-associated
VAR_065418 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065419 commonName VAR_065419
VAR_065419 disease phenotype-associated
VAR_065419 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065420 commonName VAR_065420
VAR_065420 disease phenotype-associated
VAR_065420 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065421 commonName VAR_065421
VAR_065421 disease phenotype-associated
VAR_065421 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065422 commonName VAR_065422
VAR_065422 disease phenotype-associated
VAR_065422 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065423 commonName VAR_065423
VAR_065423 disease phenotype-associated
VAR_065423 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065424 commonName VAR_065424
VAR_065424 disease phenotype-associated
VAR_065424 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065425 commonName VAR_065425
VAR_065425 disease phenotype-associated
VAR_065425 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065426 commonName VAR_065426
VAR_065426 disease phenotype-associated
VAR_065426 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065427 commonName VAR_065427
VAR_065427 disease phenotype-associated
VAR_065427 phenoCommon Factor VII deficiency (FA7D) [MIM:227500]
VAR_065428 commonName VAR_065428
VAR_065428 disease phenotype-associated
VAR_065428 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065429 commonName VAR_065429
VAR_065429 disease phenotype-associated
VAR_065429 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065430 commonName VAR_065430
VAR_065430 disease phenotype-associated
VAR_065430 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065431 commonName VAR_065431
VAR_065431 disease phenotype-associated
VAR_065431 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065432 commonName VAR_065432
VAR_065432 disease phenotype-associated
VAR_065432 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065433 commonName VAR_065433
VAR_065433 disease phenotype-associated
VAR_065433 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065434 commonName VAR_065434
VAR_065435 commonName VAR_065435
VAR_065435 disease phenotype-associated
VAR_065435 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065436 commonName VAR_065436
VAR_065436 disease phenotype-associated
VAR_065436 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065437 commonName VAR_065437
VAR_065437 disease phenotype-associated
VAR_065437 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065438 commonName VAR_065438
VAR_065438 disease phenotype-associated
VAR_065438 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065439 commonName VAR_065439
VAR_065439 disease phenotype-associated
VAR_065439 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065440 commonName VAR_065440
VAR_065440 disease phenotype-associated
VAR_065440 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065441 commonName VAR_065441
VAR_065441 disease phenotype-associated
VAR_065441 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065442 commonName VAR_065442
VAR_065442 disease phenotype-associated
VAR_065442 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065443 commonName VAR_065443
VAR_065443 disease phenotype-associated
VAR_065443 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065444 commonName VAR_065444
VAR_065444 disease phenotype-associated
VAR_065444 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065445 commonName VAR_065445
VAR_065445 disease phenotype-associated
VAR_065445 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065446 commonName VAR_065446
VAR_065446 disease phenotype-associated
VAR_065446 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065447 commonName VAR_065447
VAR_065447 disease phenotype-associated
VAR_065447 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065448 commonName VAR_065448
VAR_065448 disease phenotype-associated
VAR_065448 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065449 commonName VAR_065449
VAR_065449 disease phenotype-associated
VAR_065449 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065450 commonName VAR_065450
VAR_065450 disease phenotype-associated
VAR_065450 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065451 commonName VAR_065451
VAR_065451 disease phenotype-associated
VAR_065451 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065452 commonName VAR_065452
VAR_065452 disease phenotype-associated
VAR_065452 phenoCommon Factor X deficiency (FA10D) [MIM:227600]
VAR_065453 commonName VAR_065453
VAR_065453 disease phenotype-associated
VAR_065453 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
VAR_065454 commonName VAR_065454
VAR_065454 disease phenotype-associated
VAR_065454 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_065455 commonName VAR_065455
VAR_065455 disease phenotype-associated
VAR_065455 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700]
VAR_065456 commonName VAR_065456
VAR_065456 disease not phenotype-associated
VAR_065457 commonName VAR_065457
VAR_065457 disease not phenotype-associated
VAR_065458 commonName VAR_065458
VAR_065458 disease not phenotype-associated
VAR_065459 comment Some patients with early onset breast cancer
VAR_065459 commonName VAR_065459
VAR_065460 comment Some patients with early onset breast cancer
VAR_065460 commonName VAR_065460
VAR_065461 comment Some patients with early onset breast cancer
VAR_065461 commonName VAR_065461
VAR_065462 comment Some patients with early onset breast cancer
VAR_065462 commonName VAR_065462
VAR_065463 comment Some patients with early onset breast cancer
VAR_065463 commonName VAR_065463
VAR_065464 comment Some patients with early onset breast cancer
VAR_065464 commonName VAR_065464
VAR_065465 commonName VAR_065465
VAR_065465 disease not phenotype-associated
VAR_065466 commonName VAR_065466
VAR_065469 commonName VAR_065469
VAR_065469 disease phenotype-associated
VAR_065469 phenoCommon Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838]
VAR_065470 commonName VAR_065470
VAR_065470 disease phenotype-associated
VAR_065470 phenoCommon Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838]
VAR_065471 commonName VAR_065471
VAR_065471 disease phenotype-associated
VAR_065471 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873]
VAR_065472 commonName VAR_065472
VAR_065472 disease phenotype-associated
VAR_065472 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873]
VAR_065473 commonName VAR_065473
VAR_065473 disease phenotype-associated
VAR_065473 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873]
VAR_065474 commonName VAR_065474
VAR_065474 disease not phenotype-associated
VAR_065475 commonName VAR_065475
VAR_065476 commonName VAR_065476
VAR_065476 disease phenotype-associated
VAR_065476 phenoCommon Familial hypertrophic cardiomyopathy type 19 (CMH19) [MIM:613875]
VAR_065477 commonName VAR_065477
VAR_065477 disease phenotype-associated
VAR_065477 phenoCommon Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876]
VAR_065478 commonName VAR_065478
VAR_065478 disease phenotype-associated
VAR_065478 phenoCommon Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876]
VAR_065479 commonName VAR_065479
VAR_065479 disease phenotype-associated
VAR_065479 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_065480 commonName VAR_065480
VAR_065480 disease phenotype-associated
VAR_065480 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_065481 commonName VAR_065481
VAR_065481 disease phenotype-associated
VAR_065481 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690]
VAR_065482 commonName VAR_065482
VAR_065482 disease phenotype-associated
VAR_065482 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690]
VAR_065483 commonName VAR_065483
VAR_065483 disease phenotype-associated
VAR_065483 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690]
VAR_065484 commonName VAR_065484
VAR_065484 disease phenotype-associated
VAR_065484 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690]
VAR_065485 commonName VAR_065485
VAR_065485 disease phenotype-associated
VAR_065485 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690]
VAR_065486 commonName VAR_065486
VAR_065486 disease phenotype-associated
VAR_065486 phenoCommon Meier-Gorlin syndrome type 2 (MGORS2) [MIM:613800]
VAR_065488 commonName VAR_065488
VAR_065488 disease phenotype-associated
VAR_065488 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
VAR_065489 commonName VAR_065489
VAR_065489 disease phenotype-associated
VAR_065489 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
VAR_065490 commonName VAR_065490
VAR_065490 disease phenotype-associated
VAR_065490 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
VAR_065491 commonName VAR_065491
VAR_065491 disease phenotype-associated
VAR_065491 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
VAR_065492 commonName VAR_065492
VAR_065492 disease phenotype-associated
VAR_065492 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
VAR_065493 commonName VAR_065493
VAR_065493 disease phenotype-associated
VAR_065493 phenoCommon Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805]
VAR_065494 commonName VAR_065494
VAR_065494 disease phenotype-associated
VAR_065494 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
VAR_065495 commonName VAR_065495
VAR_065495 disease phenotype-associated
VAR_065495 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_065496 commonName VAR_065496
VAR_065496 disease not phenotype-associated
VAR_065497 commonName VAR_065497
VAR_065498 commonName VAR_065498
VAR_065498 disease phenotype-associated
VAR_065498 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200]
VAR_065499 commonName VAR_065499
VAR_065499 disease phenotype-associated
VAR_065499 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
VAR_065500 commonName VAR_065500
VAR_065500 disease phenotype-associated
VAR_065500 phenoCommon Leber congenital amaurosis type 15 (LCA15) [MIM:613843]
VAR_065501 commonName VAR_065501
VAR_065501 disease phenotype-associated
VAR_065501 phenoCommon Leber congenital amaurosis type 15 (LCA15) [MIM:613843]
VAR_065504 commonName VAR_065504
VAR_065504 disease phenotype-associated
VAR_065504 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762]
VAR_065505 commonName VAR_065505
VAR_065505 disease phenotype-associated
VAR_065505 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762]
VAR_065507 commonName VAR_065507
VAR_065507 disease phenotype-associated
VAR_065507 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762]
VAR_065508 commonName VAR_065508
VAR_065508 disease phenotype-associated
VAR_065508 phenoCommon Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708]
VAR_065509 commonName VAR_065509
VAR_065509 disease phenotype-associated
VAR_065509 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_065510 commonName VAR_065510
VAR_065510 disease phenotype-associated
VAR_065510 phenoCommon Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708]
VAR_065511 commonName VAR_065511
VAR_065511 disease phenotype-associated
VAR_065511 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_065512 commonName VAR_065512
VAR_065512 disease phenotype-associated
VAR_065512 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_065514 commonName VAR_065514
VAR_065515 commonName VAR_065515
VAR_065515 disease not phenotype-associated
VAR_065516 commonName VAR_065516
VAR_065516 disease phenotype-associated
VAR_065516 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065517 commonName VAR_065517
VAR_065517 disease phenotype-associated
VAR_065517 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065518 commonName VAR_065518
VAR_065518 disease phenotype-associated
VAR_065518 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065519 commonName VAR_065519
VAR_065519 disease not phenotype-associated
VAR_065520 commonName VAR_065520
VAR_065520 disease phenotype-associated
VAR_065520 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819]
VAR_065520 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065520 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065521 commonName VAR_065521
VAR_065521 disease not phenotype-associated
VAR_065522 commonName VAR_065522
VAR_065522 disease phenotype-associated
VAR_065522 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065523 commonName VAR_065523
VAR_065523 disease not phenotype-associated
VAR_065524 commonName VAR_065524
VAR_065525 commonName VAR_065525
VAR_065525 disease not phenotype-associated
VAR_065526 commonName VAR_065526
VAR_065526 disease phenotype-associated
VAR_065526 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065527 commonName VAR_065527
VAR_065527 disease not phenotype-associated
VAR_065528 commonName VAR_065528
VAR_065528 disease not phenotype-associated
VAR_065529 commonName VAR_065529
VAR_065529 disease phenotype-associated
VAR_065529 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065530 commonName VAR_065530
VAR_065530 disease phenotype-associated
VAR_065530 phenoCommon Joubert syndrome (JBTS) [MIM:213300]
VAR_065531 commonName VAR_065531
VAR_065531 disease not phenotype-associated
VAR_065532 commonName VAR_065532
VAR_065532 disease not phenotype-associated
VAR_065533 commonName VAR_065533
VAR_065533 disease not phenotype-associated
VAR_065534 commonName VAR_065534
VAR_065534 disease not phenotype-associated
VAR_065535 commonName VAR_065535
VAR_065535 disease phenotype-associated
VAR_065535 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065536 commonName VAR_065536
VAR_065536 disease phenotype-associated
VAR_065536 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819]
VAR_065537 commonName VAR_065537
VAR_065537 disease phenotype-associated
VAR_065537 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819]
VAR_065538 commonName VAR_065538
VAR_065539 commonName VAR_065539
VAR_065539 disease phenotype-associated
VAR_065539 phenoCommon Joubert syndrome (JBTS) [MIM:213300]
VAR_065540 commonName VAR_065540
VAR_065541 commonName VAR_065541
VAR_065542 commonName VAR_065542
VAR_065543 commonName VAR_065543
VAR_065544 commonName VAR_065544
VAR_065545 commonName VAR_065545
VAR_065545 disease not phenotype-associated
VAR_065546 commonName VAR_065546
VAR_065546 disease not phenotype-associated
VAR_065547 commonName VAR_065547
VAR_065547 disease not phenotype-associated
VAR_065548 commonName VAR_065548
VAR_065548 disease phenotype-associated
VAR_065548 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065549 commonName VAR_065549
VAR_065549 disease phenotype-associated
VAR_065549 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820]
VAR_065550 commonName VAR_065550
VAR_065550 disease phenotype-associated
VAR_065550 phenoCommon Joubert syndrome (JBTS) [MIM:213300]
VAR_065551 commonName VAR_065551
VAR_065551 disease phenotype-associated
VAR_065551 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_065552 commonName VAR_065552
VAR_065552 disease not phenotype-associated
VAR_065553 commonName VAR_065553
VAR_065553 disease not phenotype-associated
VAR_065555 commonName VAR_065555
VAR_065556 commonName VAR_065556
VAR_065556 disease not phenotype-associated
VAR_065557 commonName VAR_065557
VAR_065558 commonName VAR_065558
VAR_065558 disease phenotype-associated
VAR_065558 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_065559 commonName VAR_065559
VAR_065559 disease phenotype-associated
VAR_065559 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100]
VAR_065560 commonName VAR_065560
VAR_065560 disease phenotype-associated
VAR_065560 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
VAR_065561 commonName VAR_065561
VAR_065561 disease phenotype-associated
VAR_065561 phenoCommon Sick sinus syndrome type 3 (SSS3) [MIM:614090]
VAR_065562 commonName VAR_065562
VAR_065562 disease phenotype-associated
VAR_065562 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_065563 commonName VAR_065563
VAR_065563 disease phenotype-associated
VAR_065563 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
VAR_065564 commonName VAR_065564
VAR_065564 disease phenotype-associated
VAR_065564 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_065565 commonName VAR_065565
VAR_065565 disease phenotype-associated
VAR_065565 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_065566 commonName VAR_065566
VAR_065566 disease phenotype-associated
VAR_065566 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
HbVar.685 commonName Hb C-Harlem
VAR_065567 commonName VAR_065567
VAR_065567 disease phenotype-associated
VAR_065567 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_065568 commonName VAR_065568
VAR_065568 disease phenotype-associated
VAR_065568 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_065569 commonName VAR_065569
VAR_065569 disease phenotype-associated
VAR_065569 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
VAR_065570 commonName VAR_065570
VAR_065570 disease not phenotype-associated
VAR_065571 commonName VAR_065571
VAR_065571 disease not phenotype-associated
VAR_065572 commonName VAR_065572
VAR_065572 disease not phenotype-associated
VAR_065573 commonName VAR_065573
VAR_065573 disease not phenotype-associated
VAR_065574 commonName VAR_065574
VAR_065575 commonName VAR_065575
VAR_065580 commonName VAR_065580
VAR_065580 disease phenotype-associated
VAR_065580 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]
VAR_065581 commonName VAR_065581
VAR_065581 disease phenotype-associated
VAR_065581 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]
VAR_065582 commonName VAR_065582
VAR_065582 disease phenotype-associated
VAR_065582 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832]
VAR_065583 commonName VAR_065583
VAR_065583 disease phenotype-associated
VAR_065583 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832]
VAR_065584 commonName VAR_065584
VAR_065584 disease phenotype-associated
VAR_065584 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832]
VAR_065585 commonName VAR_065585
VAR_065585 disease phenotype-associated
VAR_065585 phenoCommon Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811]
VAR_065586 commonName VAR_065586
VAR_065586 disease phenotype-associated
VAR_065586 phenoCommon Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811]
VAR_065587 commonName VAR_065587
VAR_065587 disease phenotype-associated
VAR_065587 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_065588 commonName VAR_065588
VAR_065588 disease phenotype-associated
VAR_065588 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_065589 commonName VAR_065589
VAR_065589 disease phenotype-associated
VAR_065589 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_065590 commonName VAR_065590
VAR_065590 disease phenotype-associated
VAR_065590 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359]
VAR_065591 commonName VAR_065591
VAR_065591 disease phenotype-associated
VAR_065591 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065592 commonName VAR_065592
VAR_065592 disease phenotype-associated
VAR_065592 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065593 commonName VAR_065593
VAR_065593 disease phenotype-associated
VAR_065593 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065594 commonName VAR_065594
VAR_065594 disease phenotype-associated
VAR_065594 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065595 commonName VAR_065595
VAR_065595 disease phenotype-associated
VAR_065595 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065596 commonName VAR_065596
VAR_065596 disease phenotype-associated
VAR_065596 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065597 commonName VAR_065597
VAR_065597 disease phenotype-associated
VAR_065597 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065598 commonName VAR_065598
VAR_065598 disease phenotype-associated
VAR_065598 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065600 commonName VAR_065600
VAR_065600 disease phenotype-associated
VAR_065600 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065601 commonName VAR_065601
HbVar.685 alias Hb C-Georgetown
VAR_065601 disease phenotype-associated
VAR_065601 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065602 commonName VAR_065602
VAR_065602 disease phenotype-associated
VAR_065602 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065603 commonName VAR_065603
VAR_065603 disease phenotype-associated
VAR_065603 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065604 commonName VAR_065604
VAR_065604 disease phenotype-associated
VAR_065604 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065605 commonName VAR_065605
VAR_065605 disease phenotype-associated
VAR_065605 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065606 commonName VAR_065606
VAR_065606 disease phenotype-associated
VAR_065606 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065607 commonName VAR_065607
VAR_065607 disease phenotype-associated
VAR_065607 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065608 commonName VAR_065608
VAR_065608 disease phenotype-associated
VAR_065608 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065609 commonName VAR_065609
VAR_065609 disease phenotype-associated
VAR_065609 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065610 commonName VAR_065610
VAR_065610 disease phenotype-associated
VAR_065610 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065611 commonName VAR_065611
VAR_065611 disease phenotype-associated
VAR_065611 phenoCommon Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
VAR_065612 commonName VAR_065612
VAR_065612 disease phenotype-associated
VAR_065612 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065613 commonName VAR_065613
VAR_065613 disease phenotype-associated
VAR_065613 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065614 commonName VAR_065614
VAR_065614 disease phenotype-associated
VAR_065614 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065615 commonName VAR_065615
VAR_065615 disease phenotype-associated
VAR_065615 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009]
VAR_065616 commonName VAR_065616
VAR_065616 disease phenotype-associated
VAR_065616 phenoCommon Leber congenital amaurosis type 11 (LCA11) [MIM:613837]
VAR_065617 commonName VAR_065617
VAR_065617 disease phenotype-associated
VAR_065617 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105]
VAR_065618 commonName VAR_065618
VAR_065618 disease phenotype-associated
VAR_065618 phenoCommon Leber congenital amaurosis type 11 (LCA11) [MIM:613837]
VAR_065619 commonName VAR_065619
VAR_065619 disease not phenotype-associated
VAR_065620 commonName VAR_065620
VAR_065621 commonName VAR_065621
VAR_065621 disease phenotype-associated
VAR_065621 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105]
VAR_065627 comment Cervical cancer
VAR_065627 commonName VAR_065627
VAR_065628 commonName VAR_065628
VAR_065628 disease phenotype-associated
VAR_065628 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200]
VAR_065629 comment Cervical carcinoma
VAR_065629 commonName VAR_065629
VAR_065630 comment Sporadic cancer
VAR_065630 commonName VAR_065630
VAR_065631 comment Sporadic cancer
VAR_065631 commonName VAR_065631
VAR_065632 comment Sporadic cancer
VAR_065632 commonName VAR_065632
VAR_065633 comment Cervical cancer
VAR_065633 commonName VAR_065633
VAR_065634 comment Sporadic cancer
VAR_065634 commonName VAR_065634
VAR_065635 comment Colorectal cancer
VAR_065635 commonName VAR_065635
VAR_065636 comment Sporadic cancer
VAR_065636 commonName VAR_065636
VAR_065637 comment Sporadic cancer
VAR_065637 commonName VAR_065637
VAR_065638 comment Sporadic cancer
VAR_065638 commonName VAR_065638
VAR_065639 comment Sporadic cancer
VAR_065639 commonName VAR_065639
VAR_065640 comment Lung cancer
VAR_065640 commonName VAR_065640
VAR_065641 comment Colorectal cancer
VAR_065641 commonName VAR_065641
VAR_065642 comment Sporadic cancer
VAR_065642 commonName VAR_065642
VAR_065643 comment Sporadic cancer
VAR_065643 commonName VAR_065643
VAR_065644 comment Colorectal cancer
VAR_065644 commonName VAR_065644
VAR_065645 comment Colorectal cancer
VAR_065645 commonName VAR_065645
VAR_065646 comment Sporadic cancer
VAR_065646 commonName VAR_065646
VAR_065647 comment Sporadic cancer
VAR_065647 commonName VAR_065647
VAR_065648 comment Sporadic cancer
VAR_065648 commonName VAR_065648
VAR_065649 comment Cervical cancer
VAR_065649 commonName VAR_065649
VAR_065650 comment Sporadic cancer
VAR_065650 commonName VAR_065650
VAR_065651 comment Sporadic cancer
VAR_065651 commonName VAR_065651
VAR_065652 comment Sporadic cancer
VAR_065652 commonName VAR_065652
VAR_065653 comment Sporadic cancer
VAR_065653 commonName VAR_065653
VAR_065654 comment Sporadic cancer
VAR_065654 commonName VAR_065654
VAR_065655 comment Ovarian carcinoma
VAR_065655 commonName VAR_065655
VAR_065656 comment Sporadic cancer
VAR_065656 commonName VAR_065656
VAR_065657 comment Colorectal cancer
VAR_065657 commonName VAR_065657
VAR_065658 comment Gastric carcinoma
VAR_065658 commonName VAR_065658
VAR_065659 comment Colorectal cancer
VAR_065659 commonName VAR_065659
VAR_065660 comment Colorectal cancer
VAR_065660 commonName VAR_065660
VAR_065661 commonName VAR_065661
VAR_065661 disease phenotype-associated
VAR_065661 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_065662 commonName VAR_065662
VAR_065662 disease phenotype-associated
VAR_065662 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_065663 commonName VAR_065663
VAR_065663 disease phenotype-associated
VAR_065663 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]
VAR_065665 commonName VAR_065665
VAR_065665 disease phenotype-associated
VAR_065665 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810]
VAR_065666 commonName VAR_065666
VAR_065666 disease phenotype-associated
VAR_065666 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_065667 commonName VAR_065667
VAR_065667 disease phenotype-associated
VAR_065667 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010]
VAR_065679 comment Acute lymphoblastic leukemia patients
VAR_065679 commonName VAR_065679
VAR_065680 comment Acute lymphoblastic leukemia patients
VAR_065680 commonName VAR_065680
VAR_065681 comment Acute lymphoblastic leukemia patients
VAR_065681 commonName VAR_065681
VAR_065682 comment Acute lymphoblastic leukemia patients
VAR_065682 commonName VAR_065682
VAR_065683 comment Acute lymphoblastic leukemia patients
VAR_065683 commonName VAR_065683
VAR_065684 comment Acute lymphoblastic leukemia patients
VAR_065684 commonName VAR_065684
VAR_065685 commonName VAR_065685
VAR_065685 disease phenotype-associated
VAR_065685 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
VAR_065686 commonName VAR_065686
VAR_065686 disease phenotype-associated
VAR_065686 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
VAR_065687 commonName VAR_065687
VAR_065687 disease phenotype-associated
VAR_065687 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
VAR_065688 commonName VAR_065688
VAR_065688 disease phenotype-associated
VAR_065688 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
VAR_065689 commonName VAR_065689
VAR_065689 disease phenotype-associated
VAR_065689 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
VAR_065690 commonName VAR_065690
VAR_065690 disease phenotype-associated
VAR_065690 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
VAR_065691 commonName VAR_065691
VAR_065691 disease not phenotype-associated
VAR_065692 commonName VAR_065692
VAR_065692 disease not phenotype-associated
VAR_065693 commonName VAR_065693
VAR_065693 disease phenotype-associated
VAR_065693 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
VAR_065694 commonName VAR_065694
VAR_065694 disease not phenotype-associated
VAR_065695 commonName VAR_065695
VAR_065695 disease not phenotype-associated
VAR_065696 commonName VAR_065696
VAR_065696 disease not phenotype-associated
VAR_065697 commonName VAR_065697
VAR_065697 disease not phenotype-associated
VAR_065698 commonName VAR_065698
VAR_065698 disease phenotype-associated
VAR_065698 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 12 (ARVD12) [MIM:611528]
VAR_065699 commonName VAR_065699
VAR_065699 disease not phenotype-associated
VAR_065700 commonName VAR_065700
VAR_065700 disease not phenotype-associated
VAR_065701 commonName VAR_065701
VAR_065702 commonName VAR_065702
VAR_065702 disease not phenotype-associated
VAR_065703 commonName VAR_065703
VAR_065704 commonName VAR_065704
VAR_065704 disease not phenotype-associated
VAR_065705 commonName VAR_065705
VAR_065705 disease phenotype-associated
VAR_065705 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_065706 commonName VAR_065706
VAR_065706 disease phenotype-associated
VAR_065706 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_065707 commonName VAR_065707
VAR_065707 disease not phenotype-associated
VAR_065708 commonName VAR_065708
VAR_065708 disease not phenotype-associated
VAR_065709 commonName VAR_065709
VAR_065710 commonName VAR_065710
VAR_065710 disease not phenotype-associated
VAR_065711 commonName VAR_065711
VAR_065711 disease phenotype-associated
VAR_065711 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_065712 commonName VAR_065712
VAR_065712 disease not phenotype-associated
VAR_065713 commonName VAR_065713
VAR_065713 disease not phenotype-associated
VAR_065714 commonName VAR_065714
VAR_065714 disease not phenotype-associated
VAR_065715 commonName VAR_065715
VAR_065716 commonName VAR_065716
VAR_065716 disease phenotype-associated
VAR_065716 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_065717 commonName VAR_065717
VAR_065718 commonName VAR_065718
VAR_065718 disease phenotype-associated
VAR_065718 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]
VAR_065719 commonName VAR_065719
VAR_065719 disease phenotype-associated
VAR_065719 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
VAR_065720 commonName VAR_065720
VAR_065720 disease not phenotype-associated
VAR_065721 commonName VAR_065721
VAR_065721 disease not phenotype-associated
VAR_065722 commonName VAR_065722
VAR_065723 commonName VAR_065723
VAR_065724 commonName VAR_065724
VAR_065724 disease not phenotype-associated
VAR_065725 commonName VAR_065725
VAR_065725 disease not phenotype-associated
VAR_065726 commonName VAR_065726
VAR_065726 disease not phenotype-associated
VAR_065727 commonName VAR_065727
VAR_065727 disease not phenotype-associated
VAR_065728 commonName VAR_065728
VAR_065729 commonName VAR_065729
VAR_065729 disease not phenotype-associated
VAR_065739 commonName VAR_065739
VAR_065739 disease phenotype-associated
VAR_065739 phenoCommon Primary ciliary dyskinesia type 16 (CILD16) [MIM:614017]
VAR_065740 commonName VAR_065740
VAR_065741 commonName VAR_065741
VAR_065742 commonName VAR_065742
VAR_065743 commonName VAR_065743
VAR_065744 commonName VAR_065744
VAR_065744 disease not phenotype-associated
VAR_065745 commonName VAR_065745
VAR_065745 disease not phenotype-associated
VAR_065746 commonName VAR_065746
VAR_065747 commonName VAR_065747
VAR_065748 commonName VAR_065748
VAR_065749 commonName VAR_065749
VAR_065750 commonName VAR_065750
VAR_065751 commonName VAR_065751
VAR_065752 commonName VAR_065752
VAR_065752 disease not phenotype-associated
VAR_065754 commonName VAR_065754
VAR_065755 commonName VAR_065755
VAR_065756 commonName VAR_065756
VAR_065758 commonName VAR_065758
VAR_065758 disease not phenotype-associated
VAR_065759 commonName VAR_065759
VAR_065760 commonName VAR_065760
VAR_065760 disease not phenotype-associated
VAR_065761 commonName VAR_065761
VAR_065761 disease not phenotype-associated
VAR_065762 commonName VAR_065762
VAR_065762 disease not phenotype-associated
VAR_065763 commonName VAR_065763
VAR_065764 commonName VAR_065764
VAR_065765 commonName VAR_065765
VAR_065765 disease phenotype-associated
VAR_065765 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]
VAR_065766 commonName VAR_065766
VAR_065766 disease phenotype-associated
VAR_065766 phenoCommon Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]
VAR_065767 commonName VAR_065767
VAR_065767 disease phenotype-associated
VAR_065767 phenoCommon Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]
VAR_065768 commonName VAR_065768
VAR_065768 disease phenotype-associated
VAR_065768 phenoCommon Retinitis pigmentosa type 60 (RP60) [MIM:613983]
VAR_065769 commonName VAR_065769
VAR_065769 disease phenotype-associated
VAR_065769 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824]
VAR_065770 commonName VAR_065770
VAR_065770 disease phenotype-associated
VAR_065770 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824]
VAR_065771 commonName VAR_065771
VAR_065771 disease phenotype-associated
VAR_065771 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824]
VAR_065772 commonName VAR_065772
VAR_065772 disease phenotype-associated
VAR_065772 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076]
VAR_065773 commonName VAR_065773
VAR_065773 disease phenotype-associated
VAR_065773 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076]
VAR_065774 commonName VAR_065774
VAR_065774 disease phenotype-associated
VAR_065774 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076]
VAR_065775 commonName VAR_065775
VAR_065775 disease phenotype-associated
VAR_065775 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076]
VAR_065776 commonName VAR_065776
VAR_065776 disease phenotype-associated
VAR_065776 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076]
VAR_065777 commonName VAR_065777
VAR_065777 disease phenotype-associated
VAR_065777 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_065778 commonName VAR_065778
VAR_065778 disease phenotype-associated
VAR_065778 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_065779 commonName VAR_065779
VAR_065779 disease phenotype-associated
VAR_065779 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]
VAR_065780 commonName VAR_065780
VAR_065781 commonName VAR_065781
VAR_065782 commonName VAR_065782
VAR_065783 commonName VAR_065783
VAR_065784 commonName VAR_065784
VAR_065784 disease phenotype-associated
VAR_065784 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]
VAR_065785 commonName VAR_065785
VAR_065785 disease phenotype-associated
VAR_065785 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065786 commonName VAR_065786
VAR_065786 disease phenotype-associated
VAR_065786 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065787 commonName VAR_065787
VAR_065787 disease phenotype-associated
VAR_065787 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065788 commonName VAR_065788
VAR_065788 disease phenotype-associated
VAR_065788 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065789 commonName VAR_065789
VAR_065789 disease phenotype-associated
VAR_065789 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065790 commonName VAR_065790
VAR_065790 disease phenotype-associated
VAR_065790 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065791 commonName VAR_065791
VAR_065791 disease phenotype-associated
VAR_065791 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065792 commonName VAR_065792
VAR_065792 disease phenotype-associated
VAR_065792 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065793 commonName VAR_065793
VAR_065793 disease phenotype-associated
VAR_065793 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065794 commonName VAR_065794
VAR_065794 disease phenotype-associated
VAR_065794 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065795 commonName VAR_065795
VAR_065795 disease phenotype-associated
VAR_065795 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065796 commonName VAR_065796
VAR_065796 disease phenotype-associated
VAR_065796 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065797 commonName VAR_065797
VAR_065797 disease phenotype-associated
VAR_065797 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065798 commonName VAR_065798
VAR_065798 disease phenotype-associated
VAR_065798 phenoCommon Coumarin resistance (CMRES) [MIM:122700]
VAR_065799 commonName VAR_065799
VAR_065799 disease not phenotype-associated
VAR_065800 commonName VAR_065800
VAR_065800 disease phenotype-associated
VAR_065800 phenoCommon Schizophrenia type 15 (SCZD15) [MIM:613950]
VAR_065801 commonName VAR_065801
VAR_065801 disease not phenotype-associated
VAR_065802 commonName VAR_065802
VAR_065802 disease not phenotype-associated
VAR_065809 commonName VAR_065809
VAR_065809 disease phenotype-associated
VAR_065809 phenoCommon Amyloidosis primary localized cutaneous type 2 (PLCA2) [MIM:613955]
VAR_065810 commonName VAR_065810
VAR_065810 disease phenotype-associated
VAR_065810 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]
VAR_065811 commonName VAR_065811
VAR_065811 disease phenotype-associated
VAR_065811 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]
VAR_065812 commonName VAR_065812
VAR_065812 disease phenotype-associated
VAR_065812 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]
VAR_065813 commonName VAR_065813
VAR_065813 disease phenotype-associated
VAR_065813 phenoCommon Familial candidiasis type 6 (CANDF6) [MIM:613956]
VAR_065815 commonName VAR_065815
VAR_065815 disease phenotype-associated
VAR_065815 phenoCommon STAT1 deficiency complete (STAT1D) [MIM:613796]
VAR_065816 commonName VAR_065816
VAR_065816 disease phenotype-associated
VAR_065816 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_065817 commonName VAR_065817
VAR_065817 disease phenotype-associated
VAR_065817 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
VAR_065818 commonName VAR_065818
VAR_065818 disease phenotype-associated
VAR_065818 phenoCommon Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
VAR_065819 commonName VAR_065819
VAR_065819 disease phenotype-associated
VAR_065819 phenoCommon Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
VAR_065823 commonName VAR_065823
VAR_065823 disease phenotype-associated
VAR_065823 phenoCommon Diaphanospondylodysostosis (DSD) [MIM:608022]
VAR_065824 commonName VAR_065824
VAR_065824 disease not phenotype-associated
VAR_065825 commonName VAR_065825
VAR_065825 disease not phenotype-associated
VAR_065826 commonName VAR_065826
VAR_065826 disease phenotype-associated
VAR_065826 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
VAR_065827 commonName VAR_065827
VAR_065827 disease phenotype-associated
VAR_065827 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
VAR_065828 commonName VAR_065828
VAR_065828 disease phenotype-associated
VAR_065828 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
VAR_065829 commonName VAR_065829
VAR_065829 disease phenotype-associated
VAR_065829 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
VAR_065830 comment Melanoma
VAR_065830 commonName VAR_065830
VAR_065831 comment A lung carcinoma sample
VAR_065831 commonName VAR_065831
VAR_065832 comment A lung carcinoma sample
VAR_065832 commonName VAR_065832
VAR_065833 commonName VAR_065833
VAR_065833 disease phenotype-associated
VAR_065833 phenoCommon Progressive myoclonic epilepsy type 6 (EPM6) [MIM:614018]
VAR_065834 commonName VAR_065834
VAR_065834 disease phenotype-associated
VAR_065834 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065835 commonName VAR_065835
VAR_065835 disease not phenotype-associated
VAR_065836 commonName VAR_065836
VAR_065836 disease phenotype-associated
VAR_065836 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065837 commonName VAR_065837
VAR_065837 disease phenotype-associated
VAR_065837 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065838 commonName VAR_065838
VAR_065838 disease phenotype-associated
VAR_065838 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065839 commonName VAR_065839
VAR_065839 disease phenotype-associated
VAR_065839 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065840 commonName VAR_065840
VAR_065840 disease phenotype-associated
VAR_065840 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065841 commonName VAR_065841
VAR_065841 disease phenotype-associated
VAR_065841 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
VAR_065842 commonName VAR_065842
VAR_065842 disease not phenotype-associated
VAR_065843 commonName VAR_065843
VAR_065843 disease phenotype-associated
VAR_065843 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317]
VAR_065844 commonName VAR_065844
VAR_065844 disease phenotype-associated
VAR_065844 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317]
VAR_065845 commonName VAR_065845
VAR_065845 disease phenotype-associated
VAR_065845 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317]
VAR_065846 commonName VAR_065846
VAR_065846 disease phenotype-associated
VAR_065846 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 (ICF2) [MIM:614069]
VAR_065847 commonName VAR_065847
VAR_065847 disease phenotype-associated
VAR_065847 phenoCommon Chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP) [MIM:614078]
VAR_065848 commonName VAR_065848
VAR_065848 disease phenotype-associated
VAR_065848 phenoCommon Chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP) [MIM:614078]
VAR_065849 commonName VAR_065849
VAR_065849 disease phenotype-associated
VAR_065849 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065850 commonName VAR_065850
VAR_065850 disease phenotype-associated
VAR_065850 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926]
VAR_065851 commonName VAR_065851
VAR_065851 disease phenotype-associated
VAR_065851 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926]
VAR_065852 commonName VAR_065852
VAR_065852 disease phenotype-associated
VAR_065852 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065853 commonName VAR_065853
VAR_065853 disease phenotype-associated
VAR_065853 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926]
VAR_065854 commonName VAR_065854
VAR_065854 disease phenotype-associated
VAR_065854 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065855 commonName VAR_065855
VAR_065855 disease phenotype-associated
VAR_065855 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926]
VAR_065857 commonName VAR_065857
VAR_065857 disease phenotype-associated
VAR_065857 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065858 commonName VAR_065858
VAR_065858 disease phenotype-associated
VAR_065858 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065859 commonName VAR_065859
VAR_065859 disease phenotype-associated
VAR_065859 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925]
VAR_065860 commonName VAR_065860
VAR_065860 disease phenotype-associated
VAR_065860 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926]
VAR_065861 commonName VAR_065861
VAR_065861 disease phenotype-associated
VAR_065861 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_065862 commonName VAR_065862
VAR_065862 disease phenotype-associated
VAR_065862 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_065863 commonName VAR_065863
VAR_065863 disease phenotype-associated
VAR_065863 phenoCommon Familial atrial fibrillation type 9 (ATFB9) [MIM:613980]
VAR_065864 commonName VAR_065864
VAR_065864 disease phenotype-associated
VAR_065864 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390]
VAR_065865 commonName VAR_065865
VAR_065865 disease phenotype-associated
VAR_065865 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022]
VAR_065866 commonName VAR_065866
VAR_065866 disease phenotype-associated
VAR_065866 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_065867 commonName VAR_065867
VAR_065867 disease phenotype-associated
VAR_065867 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_065868 commonName VAR_065868
VAR_065868 disease phenotype-associated
VAR_065868 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_065869 commonName VAR_065869
VAR_065869 disease phenotype-associated
VAR_065869 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957]
VAR_065873 commonName VAR_065873
VAR_065873 disease phenotype-associated
VAR_065873 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]
VAR_065874 commonName VAR_065874
VAR_065874 disease phenotype-associated
VAR_065874 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]
VAR_065875 commonName VAR_065875
VAR_065875 disease phenotype-associated
VAR_065875 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]
VAR_065876 commonName VAR_065876
VAR_065876 disease phenotype-associated
VAR_065876 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]
VAR_065877 commonName VAR_065877
VAR_065877 disease not phenotype-associated
VAR_065879 commonName VAR_065879
VAR_065879 disease phenotype-associated
VAR_065879 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120]
VAR_065880 commonName VAR_065880
VAR_065880 disease phenotype-associated
VAR_065880 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065881 commonName VAR_065881
VAR_065881 disease phenotype-associated
VAR_065881 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065882 commonName VAR_065882
VAR_065882 disease phenotype-associated
VAR_065882 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065883 commonName VAR_065883
VAR_065883 disease phenotype-associated
VAR_065883 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065884 commonName VAR_065884
VAR_065884 disease phenotype-associated
VAR_065884 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065885 commonName VAR_065885
VAR_065885 disease phenotype-associated
VAR_065885 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065886 commonName VAR_065886
VAR_065886 disease phenotype-associated
VAR_065886 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065887 commonName VAR_065887
VAR_065887 disease phenotype-associated
VAR_065887 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_065888 commonName VAR_065888
VAR_065888 disease phenotype-associated
VAR_065888 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200]
VAR_065889 commonName VAR_065889
VAR_065889 disease not phenotype-associated
VAR_065890 commonName VAR_065890
VAR_065890 disease phenotype-associated
VAR_065890 phenoCommon Obesity hyperphagia and developmental delay (OHPDD) [MIM:613886]
VAR_065892 commonName VAR_065892
VAR_065892 disease phenotype-associated
VAR_065892 phenoCommon Mental retardation X-linked type 19 (MRX19) [MIM:300844]
VAR_065894 commonName VAR_065894
VAR_065894 disease phenotype-associated
VAR_065894 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_065896 commonName VAR_065896
VAR_065896 disease phenotype-associated
VAR_065896 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600]
VAR_065897 commonName VAR_065897
VAR_065897 disease phenotype-associated
VAR_065897 phenoCommon Mental retardation X-linked type 19 (MRX19) [MIM:300844]
VAR_065899 commonName VAR_065899
VAR_065899 disease phenotype-associated
VAR_065899 phenoCommon Epilepsy with neurodevelopmental defects (EPND) [MIM:613971]
VAR_065900 commonName VAR_065900
VAR_065900 disease phenotype-associated
VAR_065900 phenoCommon Mental retardation autosomal dominant type 6 (MRD6) [MIM:613970]
VAR_065901 commonName VAR_065901
VAR_065901 disease phenotype-associated
VAR_065901 phenoCommon 3MC syndrome type 2 (3MC2) [MIM:265050]
VAR_065902 commonName VAR_065902
VAR_065902 disease phenotype-associated
VAR_065902 phenoCommon 3MC syndrome type 2 (3MC2) [MIM:265050]
VAR_065904 commonName VAR_065904
VAR_065904 disease phenotype-associated
VAR_065904 phenoCommon Fibrochondrogenesis type 1 (FBCG1) [MIM:228520]
VAR_065905 commonName VAR_065905
VAR_065905 disease phenotype-associated
VAR_065905 phenoCommon Fibrochondrogenesis type 1 (FBCG1) [MIM:228520]
VAR_065906 commonName VAR_065906
VAR_065906 disease phenotype-associated
VAR_065906 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515]
VAR_065907 commonName VAR_065907
VAR_065907 disease phenotype-associated
VAR_065907 phenoCommon Perrault syndrome (PRS) [MIM:233400]
VAR_065908 commonName VAR_065908
VAR_065908 disease phenotype-associated
VAR_065908 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515]
VAR_065909 commonName VAR_065909
VAR_065909 disease phenotype-associated
VAR_065909 phenoCommon D-glyceric aciduria (D-GA) [MIM:220120]
VAR_065910 commonName VAR_065910
VAR_065910 disease phenotype-associated
VAR_065910 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
VAR_065911 commonName VAR_065911
VAR_065911 disease phenotype-associated
VAR_065911 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954]
VAR_065912 commonName VAR_065912
VAR_065913 commonName VAR_065913
VAR_065913 disease not phenotype-associated
VAR_065914 commonName VAR_065914
VAR_065915 commonName VAR_065915
VAR_065916 commonName VAR_065916
VAR_065916 disease not phenotype-associated
VAR_065917 commonName VAR_065917
VAR_065917 disease not phenotype-associated
VAR_065918 commonName VAR_065918
VAR_065918 disease phenotype-associated
VAR_065918 phenoCommon Mental retardation autosomal recessive type 14 (MRT14) [MIM:614020]
VAR_065919 commonName VAR_065919
VAR_065919 disease not phenotype-associated
VAR_065920 commonName VAR_065920
VAR_065920 disease phenotype-associated
VAR_065920 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065921 commonName VAR_065921
VAR_065921 disease phenotype-associated
VAR_065921 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065922 commonName VAR_065922
VAR_065922 disease phenotype-associated
VAR_065922 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065923 commonName VAR_065923
VAR_065923 disease phenotype-associated
VAR_065923 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065924 commonName VAR_065924
VAR_065924 disease phenotype-associated
VAR_065924 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065925 commonName VAR_065925
VAR_065925 disease phenotype-associated
VAR_065925 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065926 commonName VAR_065926
VAR_065926 disease phenotype-associated
VAR_065926 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065927 commonName VAR_065927
VAR_065927 disease phenotype-associated
VAR_065927 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
VAR_065929 commonName VAR_065929
VAR_065929 disease not phenotype-associated
VAR_065930 commonName VAR_065930
VAR_065931 commonName VAR_065931
VAR_065931 disease phenotype-associated
VAR_065931 phenoCommon Familial hyperaldosteronism type 3 (FH3) [MIM:613677]
VAR_065932 commonName VAR_065932
VAR_065933 commonName VAR_065933
VAR_065933 disease not phenotype-associated
VAR_065934 commonName VAR_065934
VAR_065934 disease phenotype-associated
VAR_065934 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065935 commonName VAR_065935
VAR_065935 disease phenotype-associated
VAR_065935 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065936 commonName VAR_065936
VAR_065936 disease phenotype-associated
VAR_065936 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065937 commonName VAR_065937
VAR_065937 disease phenotype-associated
VAR_065937 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065938 commonName VAR_065938
VAR_065938 disease phenotype-associated
VAR_065938 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065939 commonName VAR_065939
VAR_065939 disease phenotype-associated
VAR_065939 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065940 commonName VAR_065940
VAR_065940 disease phenotype-associated
VAR_065940 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065941 commonName VAR_065941
VAR_065941 disease phenotype-associated
VAR_065941 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065942 commonName VAR_065942
VAR_065942 disease phenotype-associated
VAR_065942 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065943 commonName VAR_065943
VAR_065943 disease phenotype-associated
VAR_065943 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065944 commonName VAR_065944
VAR_065944 disease phenotype-associated
VAR_065944 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065945 commonName VAR_065945
VAR_065945 disease phenotype-associated
VAR_065945 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162]
VAR_065946 commonName VAR_065946
VAR_065946 disease phenotype-associated
VAR_065946 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852]
VAR_065947 commonName VAR_065947
VAR_065947 disease phenotype-associated
VAR_065947 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852]
VAR_065948 commonName VAR_065948
VAR_065948 disease phenotype-associated
VAR_065948 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852]
VAR_065949 commonName VAR_065949
VAR_065949 disease phenotype-associated
VAR_065949 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 3 (CGD3) [MIM:613960]
VAR_065950 commonName VAR_065950
VAR_065950 disease phenotype-associated
VAR_065950 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977]
VAR_065951 commonName VAR_065951
VAR_065951 disease phenotype-associated
VAR_065951 phenoCommon Hypotrichosis type 3 (HYPT3) [MIM:613981]
VAR_065952 commonName VAR_065952
VAR_065952 disease phenotype-associated
VAR_065952 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]
VAR_065953 commonName VAR_065953
VAR_065953 disease phenotype-associated
VAR_065953 phenoCommon Pituitary hormone deficiency combined type 6 (CPHD6) [MIM:613986]
VAR_065954 commonName VAR_065954
VAR_065954 disease phenotype-associated
VAR_065954 phenoCommon Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]
VAR_065955 commonName VAR_065955
VAR_065955 disease phenotype-associated
VAR_065955 phenoCommon Short rib-polydactyly syndrome type 5 (SRPS5) [MIM:614091]
VAR_065956 commonName VAR_065956
VAR_065956 disease phenotype-associated
VAR_065956 phenoCommon Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]
VAR_065957 commonName VAR_065957
VAR_065957 disease phenotype-associated
VAR_065957 phenoCommon Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]
VAR_065958 commonName VAR_065958
VAR_065958 disease phenotype-associated
VAR_065958 phenoCommon Focal segmental glomerulosclerosis type 6 (FSGS6) [MIM:614131]
VAR_065959 commonName VAR_065959
VAR_065959 disease not phenotype-associated
VAR_065960 commonName VAR_065960
VAR_065960 disease not phenotype-associated
VAR_065961 commonName VAR_065961
VAR_065961 disease not phenotype-associated
VAR_065962 commonName VAR_065962
VAR_065962 disease not phenotype-associated
VAR_065963 commonName VAR_065963
VAR_065963 disease not phenotype-associated
VAR_065964 commonName VAR_065964
VAR_065966 commonName VAR_065966
VAR_065966 disease phenotype-associated
VAR_065966 phenoCommon Hereditary sensory neuropathy type 1E (HSN1E) [MIM:614116]
VAR_065967 commonName VAR_065967
VAR_065967 disease phenotype-associated
VAR_065967 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065968 commonName VAR_065968
VAR_065968 disease phenotype-associated
VAR_065968 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065969 commonName VAR_065969
VAR_065969 disease phenotype-associated
VAR_065969 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065970 commonName VAR_065970
VAR_065970 disease phenotype-associated
VAR_065970 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065971 commonName VAR_065971
VAR_065971 disease phenotype-associated
VAR_065971 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065972 commonName VAR_065972
VAR_065972 disease phenotype-associated
VAR_065972 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065973 commonName VAR_065973
VAR_065973 disease phenotype-associated
VAR_065973 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869]
VAR_065974 commonName VAR_065974
VAR_065974 disease phenotype-associated
VAR_065974 phenoCommon Cataract congenital autosomal recessive type 2 (CATC2) [MIM:610019]
VAR_065976 commonName VAR_065976
VAR_065977 commonName VAR_065977
VAR_065978 commonName VAR_065978
VAR_065979 commonName VAR_065979
VAR_065980 commonName VAR_065980
VAR_066012 commonName VAR_066012
VAR_066013 commonName VAR_066013
VAR_066013 disease phenotype-associated
VAR_066013 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548]
VAR_066014 commonName VAR_066014
VAR_066014 disease phenotype-associated
VAR_066014 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548]
VAR_066015 commonName VAR_066015
VAR_066015 disease phenotype-associated
VAR_066015 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548]
VAR_066016 commonName VAR_066016
VAR_066016 disease not phenotype-associated
VAR_066019 commonName VAR_066019
VAR_066019 disease phenotype-associated
VAR_066019 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693]
VAR_066020 commonName VAR_066020
VAR_066020 disease phenotype-associated
VAR_066020 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693]
VAR_066021 commonName VAR_066021
VAR_066021 disease phenotype-associated
VAR_066021 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693]
VAR_066023 commonName VAR_066023
VAR_066023 disease phenotype-associated
VAR_066023 phenoCommon Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
VAR_066024 commonName VAR_066024
VAR_066024 disease phenotype-associated
VAR_066024 phenoCommon Primary spontaneous pneumothorax (PSP) [MIM:173600]
VAR_066026 commonName VAR_066026
VAR_066026 disease phenotype-associated
VAR_066026 phenoCommon Renal cell carcinoma (RCC) [MIM:144700]
VAR_066027 commonName VAR_066027
VAR_066028 commonName VAR_066028
VAR_066028 disease phenotype-associated
VAR_066028 phenoCommon Primary spontaneous pneumothorax (PSP) [MIM:173600]
VAR_066029 commonName VAR_066029
VAR_066029 disease phenotype-associated
VAR_066029 phenoCommon Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
VAR_066030 commonName VAR_066030
VAR_066030 disease phenotype-associated
VAR_066030 phenoCommon Generalized hypotrichosis simplex (HTS)
VAR_066031 commonName VAR_066031
VAR_066031 disease not phenotype-associated
VAR_066032 commonName VAR_066032
VAR_066032 disease phenotype-associated
VAR_066032 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066033 commonName VAR_066033
VAR_066033 disease phenotype-associated
VAR_066033 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066034 commonName VAR_066034
VAR_066034 disease phenotype-associated
VAR_066034 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066035 commonName VAR_066035
VAR_066035 disease phenotype-associated
VAR_066035 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066036 commonName VAR_066036
VAR_066037 commonName VAR_066037
VAR_066037 disease phenotype-associated
VAR_066037 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066038 commonName VAR_066038
VAR_066038 disease phenotype-associated
VAR_066038 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066041 commonName VAR_066041
VAR_066041 disease phenotype-associated
VAR_066041 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066042 commonName VAR_066042
VAR_066042 disease phenotype-associated
VAR_066042 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066043 commonName VAR_066043
VAR_066044 commonName VAR_066044
VAR_066044 disease phenotype-associated
VAR_066044 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066045 commonName VAR_066045
VAR_066045 disease phenotype-associated
VAR_066045 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066046 commonName VAR_066046
VAR_066046 disease phenotype-associated
VAR_066046 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066047 commonName VAR_066047
VAR_066047 disease phenotype-associated
VAR_066047 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066048 commonName VAR_066048
VAR_066048 disease phenotype-associated
VAR_066048 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066049 commonName VAR_066049
VAR_066049 disease phenotype-associated
VAR_066049 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066051 commonName VAR_066051
VAR_066051 disease not phenotype-associated
VAR_066052 commonName VAR_066052
VAR_066052 disease phenotype-associated
VAR_066052 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066053 commonName VAR_066053
VAR_066053 disease not phenotype-associated
VAR_066054 commonName VAR_066054
VAR_066055 commonName VAR_066055
HbVar.685 ethnic Black
HbVar.685 phenoCommon Hemoglobin variant
VAR_066055 disease phenotype-associated
VAR_066055 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733]
VAR_066056 commonName VAR_066056
VAR_066056 disease not phenotype-associated
VAR_066057 commonName VAR_066057
VAR_066057 disease not phenotype-associated
VAR_066058 commonName VAR_066058
VAR_066059 commonName VAR_066059
VAR_066061 commonName VAR_066061
VAR_066061 disease phenotype-associated
VAR_066061 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_066062 commonName VAR_066062
VAR_066062 disease phenotype-associated
VAR_066062 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066063 commonName VAR_066063
VAR_066063 disease phenotype-associated
VAR_066063 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066064 commonName VAR_066064
VAR_066064 disease phenotype-associated
VAR_066064 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066065 commonName VAR_066065
VAR_066065 disease phenotype-associated
VAR_066065 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066066 commonName VAR_066066
VAR_066066 disease phenotype-associated
VAR_066066 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066067 commonName VAR_066067
VAR_066067 disease phenotype-associated
VAR_066067 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066069 commonName VAR_066069
VAR_066069 disease phenotype-associated
VAR_066069 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066070 commonName VAR_066070
VAR_066070 disease phenotype-associated
VAR_066070 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066071 commonName VAR_066071
VAR_066071 disease phenotype-associated
VAR_066071 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066072 commonName VAR_066072
VAR_066072 disease phenotype-associated
VAR_066072 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066073 commonName VAR_066073
VAR_066073 disease phenotype-associated
VAR_066073 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066074 commonName VAR_066074
VAR_066074 disease phenotype-associated
VAR_066074 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066075 commonName VAR_066075
VAR_066075 disease phenotype-associated
VAR_066075 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700]
VAR_066076 commonName VAR_066076
VAR_066076 disease phenotype-associated
VAR_066076 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066077 commonName VAR_066077
VAR_066077 disease phenotype-associated
VAR_066077 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066078 commonName VAR_066078
VAR_066078 disease phenotype-associated
VAR_066078 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066079 commonName VAR_066079
VAR_066079 disease phenotype-associated
VAR_066079 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066080 commonName VAR_066080
VAR_066080 disease phenotype-associated
VAR_066080 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066081 commonName VAR_066081
VAR_066081 disease phenotype-associated
VAR_066081 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066082 commonName VAR_066082
VAR_066082 disease phenotype-associated
VAR_066082 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066083 commonName VAR_066083
VAR_066083 disease phenotype-associated
VAR_066083 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066084 commonName VAR_066084
VAR_066084 disease phenotype-associated
VAR_066084 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066085 commonName VAR_066085
VAR_066085 disease phenotype-associated
VAR_066085 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066086 commonName VAR_066086
VAR_066086 disease phenotype-associated
VAR_066086 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066087 commonName VAR_066087
VAR_066087 disease phenotype-associated
VAR_066087 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066088 commonName VAR_066088
VAR_066088 disease phenotype-associated
VAR_066088 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066089 commonName VAR_066089
VAR_066089 disease phenotype-associated
VAR_066089 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066090 commonName VAR_066090
VAR_066090 disease phenotype-associated
VAR_066090 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066091 commonName VAR_066091
VAR_066091 disease phenotype-associated
VAR_066091 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066092 commonName VAR_066092
VAR_066092 disease phenotype-associated
VAR_066092 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066093 commonName VAR_066093
VAR_066093 disease phenotype-associated
VAR_066093 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066094 commonName VAR_066094
VAR_066094 disease phenotype-associated
VAR_066094 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066095 commonName VAR_066095
VAR_066095 disease phenotype-associated
VAR_066095 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066096 commonName VAR_066096
VAR_066096 disease phenotype-associated
VAR_066096 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066097 commonName VAR_066097
VAR_066097 disease phenotype-associated
VAR_066097 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]
VAR_066099 commonName VAR_066099
VAR_066099 disease phenotype-associated
VAR_066099 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_066100 commonName VAR_066100
VAR_066100 disease phenotype-associated
VAR_066100 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_066101 commonName VAR_066101
VAR_066101 disease phenotype-associated
VAR_066101 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_066102 commonName VAR_066102
VAR_066102 disease phenotype-associated
VAR_066102 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_066103 commonName VAR_066103
VAR_066103 disease phenotype-associated
VAR_066103 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
VAR_066104 commonName VAR_066104
VAR_066104 disease phenotype-associated
VAR_066104 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066105 commonName VAR_066105
VAR_066105 disease phenotype-associated
VAR_066105 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066106 commonName VAR_066106
VAR_066106 disease phenotype-associated
VAR_066106 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066107 commonName VAR_066107
VAR_066107 disease phenotype-associated
VAR_066107 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066108 commonName VAR_066108
VAR_066108 disease phenotype-associated
VAR_066108 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066109 commonName VAR_066109
VAR_066109 disease phenotype-associated
VAR_066109 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066110 commonName VAR_066110
VAR_066110 disease phenotype-associated
VAR_066110 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066111 commonName VAR_066111
VAR_066111 disease phenotype-associated
VAR_066111 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066112 commonName VAR_066112
VAR_066112 disease phenotype-associated
VAR_066112 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066113 commonName VAR_066113
VAR_066113 disease phenotype-associated
VAR_066113 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066114 commonName VAR_066114
VAR_066114 disease phenotype-associated
VAR_066114 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066115 commonName VAR_066115
VAR_066115 disease phenotype-associated
VAR_066115 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066116 commonName VAR_066116
VAR_066116 disease phenotype-associated
VAR_066116 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066117 commonName VAR_066117
VAR_066117 disease phenotype-associated
VAR_066117 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066118 commonName VAR_066118
VAR_066118 disease phenotype-associated
VAR_066118 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066119 commonName VAR_066119
VAR_066119 disease phenotype-associated
VAR_066119 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066120 commonName VAR_066120
VAR_066120 disease phenotype-associated
VAR_066120 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066121 commonName VAR_066121
VAR_066121 disease phenotype-associated
VAR_066121 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066122 commonName VAR_066122
VAR_066122 disease phenotype-associated
VAR_066122 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066123 commonName VAR_066123
VAR_066123 disease phenotype-associated
VAR_066123 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066142 commonName VAR_066142
VAR_066142 disease phenotype-associated
VAR_066142 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066143 commonName VAR_066143
VAR_066143 disease phenotype-associated
VAR_066143 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066144 commonName VAR_066144
VAR_066144 disease phenotype-associated
VAR_066144 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066145 commonName VAR_066145
VAR_066145 disease phenotype-associated
VAR_066145 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066146 commonName VAR_066146
VAR_066146 disease phenotype-associated
VAR_066146 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066147 commonName VAR_066147
VAR_066147 disease phenotype-associated
VAR_066147 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066148 commonName VAR_066148
VAR_066148 disease phenotype-associated
VAR_066148 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066149 commonName VAR_066149
VAR_066149 disease phenotype-associated
VAR_066149 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066150 commonName VAR_066150
VAR_066150 disease phenotype-associated
VAR_066150 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066151 commonName VAR_066151
VAR_066151 disease phenotype-associated
VAR_066151 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066152 commonName VAR_066152
VAR_066152 disease phenotype-associated
VAR_066152 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066153 commonName VAR_066153
VAR_066153 disease phenotype-associated
VAR_066153 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066154 commonName VAR_066154
VAR_066154 disease phenotype-associated
VAR_066154 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066155 commonName VAR_066155
VAR_066155 disease phenotype-associated
VAR_066155 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066156 commonName VAR_066156
VAR_066156 disease phenotype-associated
VAR_066156 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066157 commonName VAR_066157
VAR_066157 disease phenotype-associated
VAR_066157 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066158 commonName VAR_066158
VAR_066158 disease phenotype-associated
VAR_066158 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066159 commonName VAR_066159
VAR_066159 disease phenotype-associated
VAR_066159 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066160 commonName VAR_066160
VAR_066160 disease phenotype-associated
VAR_066160 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066161 commonName VAR_066161
VAR_066161 disease phenotype-associated
VAR_066161 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066162 commonName VAR_066162
VAR_066162 disease phenotype-associated
VAR_066162 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066163 commonName VAR_066163
VAR_066163 disease phenotype-associated
VAR_066163 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066171 commonName VAR_066171
VAR_066171 disease phenotype-associated
VAR_066171 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066172 commonName VAR_066172
VAR_066172 disease phenotype-associated
VAR_066172 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066173 commonName VAR_066173
VAR_066173 disease phenotype-associated
VAR_066173 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066174 commonName VAR_066174
VAR_066174 disease phenotype-associated
VAR_066174 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066175 commonName VAR_066175
VAR_066175 disease phenotype-associated
VAR_066175 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066176 commonName VAR_066176
VAR_066176 disease phenotype-associated
VAR_066176 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066177 commonName VAR_066177
VAR_066177 disease phenotype-associated
VAR_066177 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066178 commonName VAR_066178
VAR_066178 disease phenotype-associated
VAR_066178 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066179 commonName VAR_066179
VAR_066179 disease phenotype-associated
VAR_066179 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066180 commonName VAR_066180
VAR_066180 disease phenotype-associated
VAR_066180 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066181 commonName VAR_066181
VAR_066181 disease phenotype-associated
VAR_066181 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066182 commonName VAR_066182
VAR_066182 disease phenotype-associated
VAR_066182 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066183 commonName VAR_066183
VAR_066183 disease phenotype-associated
VAR_066183 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066184 commonName VAR_066184
VAR_066184 disease phenotype-associated
VAR_066184 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066185 commonName VAR_066185
VAR_066185 disease phenotype-associated
VAR_066185 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066186 commonName VAR_066186
VAR_066186 disease phenotype-associated
VAR_066186 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066187 commonName VAR_066187
VAR_066187 disease phenotype-associated
VAR_066187 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066188 commonName VAR_066188
VAR_066188 disease phenotype-associated
VAR_066188 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066189 commonName VAR_066189
VAR_066189 disease phenotype-associated
VAR_066189 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066190 commonName VAR_066190
VAR_066190 disease phenotype-associated
VAR_066190 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066191 commonName VAR_066191
VAR_066191 disease phenotype-associated
VAR_066191 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066192 commonName VAR_066192
VAR_066192 disease phenotype-associated
VAR_066192 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066193 commonName VAR_066193
VAR_066193 disease phenotype-associated
VAR_066193 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066194 commonName VAR_066194
VAR_066194 disease phenotype-associated
VAR_066194 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066195 commonName VAR_066195
VAR_066195 disease phenotype-associated
VAR_066195 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066196 commonName VAR_066196
VAR_066196 disease phenotype-associated
VAR_066196 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066197 commonName VAR_066197
VAR_066197 disease phenotype-associated
VAR_066197 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066198 commonName VAR_066198
VAR_066198 disease phenotype-associated
VAR_066198 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066199 commonName VAR_066199
VAR_066199 disease phenotype-associated
VAR_066199 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066200 commonName VAR_066200
VAR_066200 disease phenotype-associated
VAR_066200 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066201 commonName VAR_066201
VAR_066201 disease phenotype-associated
VAR_066201 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066202 commonName VAR_066202
VAR_066202 disease phenotype-associated
VAR_066202 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066203 commonName VAR_066203
VAR_066203 disease phenotype-associated
VAR_066203 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066204 commonName VAR_066204
VAR_066204 disease phenotype-associated
VAR_066204 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066205 commonName VAR_066205
VAR_066205 disease phenotype-associated
VAR_066205 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
VAR_066206 commonName VAR_066206
VAR_066206 disease phenotype-associated
VAR_066206 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039]
VAR_066207 commonName VAR_066207
VAR_066207 disease phenotype-associated
VAR_066207 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039]
VAR_066208 commonName VAR_066208
VAR_066208 disease phenotype-associated
VAR_066208 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039]
VAR_066210 commonName VAR_066210
VAR_066210 disease phenotype-associated
VAR_066210 phenoCommon Familial atrial fibrillation type 12 (ATFB12) [MIM:614050]
VAR_066211 commonName VAR_066211
VAR_066211 disease phenotype-associated
VAR_066211 phenoCommon Mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053]
VAR_066212 commonName VAR_066212
VAR_066212 disease phenotype-associated
VAR_066212 phenoCommon Myopathy distal type 4 (MPD4) [MIM:614065]
VAR_066213 commonName VAR_066213
VAR_066213 disease phenotype-associated
VAR_066213 phenoCommon Myopathy distal type 4 (MPD4) [MIM:614065]
VAR_066214 commonName VAR_066214
VAR_066214 disease phenotype-associated
VAR_066214 phenoCommon Anhaptoglobinemia (AHP) [MIM:614081]
VAR_066215 commonName VAR_066215
VAR_066215 disease phenotype-associated
VAR_066215 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_066216 commonName VAR_066216
VAR_066216 disease phenotype-associated
VAR_066216 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066217 commonName VAR_066217
VAR_066217 disease phenotype-associated
VAR_066217 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_066218 commonName VAR_066218
VAR_066218 disease phenotype-associated
VAR_066218 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066219 commonName VAR_066219
VAR_066219 disease phenotype-associated
VAR_066219 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066220 commonName VAR_066220
VAR_066220 disease phenotype-associated
VAR_066220 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_066221 commonName VAR_066221
VAR_066221 disease phenotype-associated
VAR_066221 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066222 commonName VAR_066222
VAR_066222 disease phenotype-associated
VAR_066222 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066222 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_066223 commonName VAR_066223
VAR_066223 disease phenotype-associated
VAR_066223 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_066224 commonName VAR_066224
VAR_066224 disease phenotype-associated
VAR_066224 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
VAR_066225 commonName VAR_066225
VAR_066225 disease phenotype-associated
VAR_066225 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
VAR_066226 commonName VAR_066226
VAR_066227 commonName VAR_066227
VAR_066227 disease phenotype-associated
VAR_066227 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066228 commonName VAR_066228
VAR_066228 disease not phenotype-associated
VAR_066229 commonName VAR_066229
VAR_066229 disease phenotype-associated
VAR_066229 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066230 commonName VAR_066230
VAR_066230 disease phenotype-associated
VAR_066230 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]
VAR_066231 commonName VAR_066231
VAR_066231 disease not phenotype-associated
VAR_066232 commonName VAR_066232
VAR_066232 disease phenotype-associated
VAR_066232 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066233 commonName VAR_066233
VAR_066233 disease phenotype-associated
VAR_066233 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066234 commonName VAR_066234
VAR_066234 disease phenotype-associated
VAR_066234 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066235 commonName VAR_066235
VAR_066235 disease phenotype-associated
VAR_066235 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066236 commonName VAR_066236
VAR_066236 disease phenotype-associated
VAR_066236 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066237 commonName VAR_066237
VAR_066237 disease phenotype-associated
VAR_066237 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066238 commonName VAR_066238
VAR_066238 disease phenotype-associated
VAR_066238 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066239 commonName VAR_066239
VAR_066239 disease phenotype-associated
VAR_066239 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066240 commonName VAR_066240
VAR_066240 disease phenotype-associated
VAR_066240 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066241 commonName VAR_066241
VAR_066241 disease phenotype-associated
VAR_066241 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066242 commonName VAR_066242
VAR_066242 disease not phenotype-associated
VAR_066243 commonName VAR_066243
VAR_066243 disease phenotype-associated
VAR_066243 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751]
VAR_066244 commonName VAR_066244
VAR_066247 commonName VAR_066247
VAR_066247 disease phenotype-associated
VAR_066247 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_066249 commonName VAR_066249
VAR_066249 disease phenotype-associated
VAR_066249 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049]
VAR_066250 commonName VAR_066250
VAR_066250 disease phenotype-associated
VAR_066250 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049]
VAR_066251 commonName VAR_066251
VAR_066251 disease phenotype-associated
VAR_066251 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049]
VAR_066252 commonName VAR_066252
VAR_066252 disease phenotype-associated
VAR_066252 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066253 commonName VAR_066253
VAR_066253 disease not phenotype-associated
VAR_066254 commonName VAR_066254
VAR_066254 disease phenotype-associated
VAR_066254 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066255 commonName VAR_066255
VAR_066255 disease not phenotype-associated
VAR_066256 commonName VAR_066256
VAR_066256 disease not phenotype-associated
VAR_066257 commonName VAR_066257
VAR_066257 disease phenotype-associated
VAR_066257 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066258 commonName VAR_066258
VAR_066258 disease phenotype-associated
VAR_066258 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066259 commonName VAR_066259
VAR_066259 disease phenotype-associated
VAR_066259 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066260 commonName VAR_066260
VAR_066260 disease phenotype-associated
VAR_066260 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
VAR_066261 commonName VAR_066261
VAR_066261 disease not phenotype-associated
VAR_066262 commonName VAR_066262
VAR_066262 disease phenotype-associated
VAR_066262 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_066263 commonName VAR_066263
VAR_066263 disease phenotype-associated
VAR_066263 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_066264 commonName VAR_066264
VAR_066264 disease phenotype-associated
VAR_066264 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]
VAR_066265 commonName VAR_066265
VAR_066266 commonName VAR_066266
VAR_066266 disease phenotype-associated
VAR_066266 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066267 commonName VAR_066267
VAR_066267 disease not phenotype-associated
VAR_066268 commonName VAR_066268
VAR_066268 disease not phenotype-associated
VAR_066269 commonName VAR_066269
VAR_066269 disease phenotype-associated
VAR_066269 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066270 commonName VAR_066270
VAR_066270 disease phenotype-associated
VAR_066270 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066271 commonName VAR_066271
VAR_066271 disease phenotype-associated
VAR_066271 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066272 commonName VAR_066272
VAR_066274 commonName VAR_066274
VAR_066275 commonName VAR_066275
VAR_066275 disease phenotype-associated
VAR_066275 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066276 commonName VAR_066276
VAR_066276 disease phenotype-associated
VAR_066276 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066277 commonName VAR_066277
VAR_066277 disease phenotype-associated
VAR_066277 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
VAR_066278 commonName VAR_066278
VAR_066278 disease phenotype-associated
VAR_066278 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
VAR_066280 commonName VAR_066280
VAR_066280 disease phenotype-associated
VAR_066280 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_066281 commonName VAR_066281
VAR_066281 disease phenotype-associated
VAR_066281 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_066282 commonName VAR_066282
VAR_066282 disease phenotype-associated
VAR_066282 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_066283 commonName VAR_066283
VAR_066283 disease phenotype-associated
VAR_066283 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_066284 commonName VAR_066284
VAR_066284 disease phenotype-associated
VAR_066284 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
VAR_066285 commonName VAR_066285
VAR_066286 commonName VAR_066286
VAR_066286 disease phenotype-associated
VAR_066286 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
VAR_066287 commonName VAR_066287
VAR_066290 commonName VAR_066290
VAR_066290 disease phenotype-associated
VAR_066290 phenoCommon Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]
VAR_066291 commonName VAR_066291
VAR_066291 disease not phenotype-associated
VAR_066295 commonName VAR_066295
VAR_066296 comment A cutaneous metastatic melanoma sample
VAR_066296 commonName VAR_066296
VAR_066297 comment A cutaneous metastatic melanoma sample
VAR_066297 commonName VAR_066297
VAR_066298 comment A cutaneous metastatic melanoma sample
VAR_066298 commonName VAR_066298
VAR_066299 comment A cutaneous metastatic melanoma sample
VAR_066299 commonName VAR_066299
VAR_066300 commonName VAR_066300
VAR_066301 comment A cutaneous metastatic melanoma sample
VAR_066301 commonName VAR_066301
VAR_066302 comment A cutaneous metastatic melanoma sample
VAR_066302 commonName VAR_066302
VAR_066303 comment A cutaneous metastatic melanoma sample
VAR_066303 commonName VAR_066303
VAR_066304 comment A cutaneous metastatic melanoma sample
VAR_066304 commonName VAR_066304
VAR_066305 comment A cutaneous metastatic melanoma sample
VAR_066305 commonName VAR_066305
VAR_066306 commonName VAR_066306
VAR_066307 comment A cutaneous metastatic melanoma sample
VAR_066307 commonName VAR_066307
VAR_066308 comment A cutaneous metastatic melanoma sample
VAR_066308 commonName VAR_066308
VAR_066309 comment A cutaneous metastatic melanoma sample
VAR_066309 commonName VAR_066309
VAR_066310 comment A cutaneous metastatic melanoma sample
VAR_066310 commonName VAR_066310
VAR_066312 comment A cutaneous metastatic melanoma sample
VAR_066312 commonName VAR_066312
VAR_066313 comment A cutaneous metastatic melanoma sample
VAR_066313 commonName VAR_066313
VAR_066314 comment A cutaneous metastatic melanoma sample
VAR_066314 commonName VAR_066314
VAR_066315 comment A cutaneous metastatic melanoma sample
VAR_066315 commonName VAR_066315
VAR_066316 comment A cutaneous metastatic melanoma sample
VAR_066316 commonName VAR_066316
VAR_066317 comment A cutaneous metastatic melanoma sample
VAR_066317 commonName VAR_066317
VAR_066318 comment A cutaneous metastatic melanoma sample
VAR_066318 commonName VAR_066318
VAR_066322 comment A melanoma cell line
VAR_066322 commonName VAR_066322
VAR_066323 comment A cutaneous metastatic melanoma sample
VAR_066323 commonName VAR_066323
VAR_066324 comment A cutaneous metastatic melanoma sample
VAR_066324 commonName VAR_066324
VAR_066325 comment A cutaneous metastatic melanoma sample
VAR_066325 commonName VAR_066325
VAR_066326 comment A cutaneous metastatic melanoma sample
VAR_066326 commonName VAR_066326
VAR_066327 comment A cutaneous metastatic melanoma sample
VAR_066327 commonName VAR_066327
VAR_066328 comment A cutaneous metastatic melanoma sample
VAR_066328 commonName VAR_066328
VAR_066329 comment A cutaneous metastatic melanoma sample
VAR_066329 commonName VAR_066329
VAR_066330 comment A cutaneous metastatic melanoma sample
VAR_066330 commonName VAR_066330
VAR_066331 comment A cutaneous metastatic melanoma sample
VAR_066331 commonName VAR_066331
VAR_066332 comment A cutaneous metastatic melanoma sample
VAR_066332 commonName VAR_066332
VAR_066333 comment A cutaneous metastatic melanoma sample
VAR_066333 commonName VAR_066333
VAR_066334 comment A cutaneous metastatic melanoma sample
VAR_066334 commonName VAR_066334
VAR_066335 comment A cutaneous metastatic melanoma sample
VAR_066335 commonName VAR_066335
VAR_066336 comment A cutaneous metastatic melanoma sample
VAR_066336 commonName VAR_066336
VAR_066337 comment A cutaneous metastatic melanoma sample
VAR_066337 commonName VAR_066337
VAR_066338 commonName VAR_066338
VAR_066338 disease phenotype-associated
VAR_066338 phenoCommon Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]
VAR_066339 commonName VAR_066339
VAR_066339 disease not phenotype-associated
VAR_066340 commonName VAR_066340
VAR_066340 disease not phenotype-associated
VAR_066341 commonName VAR_066341
VAR_066341 disease not phenotype-associated
VAR_066342 commonName VAR_066342
VAR_066342 disease not phenotype-associated
VAR_066343 commonName VAR_066343
VAR_066343 disease not phenotype-associated
VAR_066344 commonName VAR_066344
VAR_066344 disease not phenotype-associated
VAR_066345 commonName VAR_066345
VAR_066346 commonName VAR_066346
VAR_066347 commonName VAR_066347
VAR_066347 disease not phenotype-associated
VAR_066348 commonName VAR_066348
VAR_066348 disease not phenotype-associated
VAR_066349 commonName VAR_066349
VAR_066349 disease not phenotype-associated
VAR_066350 commonName VAR_066350
VAR_066350 disease not phenotype-associated
VAR_066351 commonName VAR_066351
VAR_066351 disease not phenotype-associated
VAR_066352 commonName VAR_066352
VAR_066353 commonName VAR_066353
VAR_066353 disease not phenotype-associated
VAR_066354 commonName VAR_066354
VAR_066354 disease not phenotype-associated
VAR_066355 commonName VAR_066355
VAR_066355 disease not phenotype-associated
VAR_066356 commonName VAR_066356
VAR_066356 disease not phenotype-associated
VAR_066357 commonName VAR_066357
VAR_066358 commonName VAR_066358
VAR_066358 disease not phenotype-associated
VAR_066359 commonName VAR_066359
VAR_066360 commonName VAR_066360
VAR_066361 commonName VAR_066361
VAR_066361 disease not phenotype-associated
VAR_066362 commonName VAR_066362
VAR_066362 disease not phenotype-associated
VAR_066363 commonName VAR_066363
VAR_066363 disease not phenotype-associated
VAR_066364 commonName VAR_066364
VAR_066364 disease not phenotype-associated
VAR_066365 commonName VAR_066365
VAR_066365 disease not phenotype-associated
VAR_066366 commonName VAR_066366
VAR_066366 disease not phenotype-associated
VAR_066367 commonName VAR_066367
VAR_066367 disease not phenotype-associated
VAR_066368 commonName VAR_066368
VAR_066368 disease not phenotype-associated
VAR_066369 commonName VAR_066369
VAR_066369 disease not phenotype-associated
VAR_066370 commonName VAR_066370
VAR_066370 disease not phenotype-associated
VAR_066371 commonName VAR_066371
VAR_066371 disease not phenotype-associated
VAR_066372 commonName VAR_066372
VAR_066372 disease not phenotype-associated
VAR_066373 commonName VAR_066373
VAR_066373 disease not phenotype-associated
VAR_066374 commonName VAR_066374
VAR_066374 disease not phenotype-associated
VAR_066375 commonName VAR_066375
VAR_066376 commonName VAR_066376
VAR_066376 disease not phenotype-associated
VAR_066377 commonName VAR_066377
VAR_066378 commonName VAR_066378
VAR_066378 disease not phenotype-associated
VAR_066379 commonName VAR_066379
VAR_066380 commonName VAR_066380
VAR_066380 disease not phenotype-associated
VAR_066381 commonName VAR_066381
VAR_066381 disease not phenotype-associated
VAR_066382 commonName VAR_066382
VAR_066382 disease not phenotype-associated
VAR_066383 commonName VAR_066383
VAR_066384 commonName VAR_066384
VAR_066384 disease not phenotype-associated
VAR_066385 commonName VAR_066385
VAR_066386 commonName VAR_066386
VAR_066389 commonName VAR_066389
VAR_066389 disease phenotype-associated
VAR_066389 phenoCommon Myopia type 21 (MYP21) [MIM:614167]
VAR_066390 commonName VAR_066390
VAR_066390 disease phenotype-associated
VAR_066390 phenoCommon Myopia type 21 (MYP21) [MIM:614167]
VAR_066391 commonName VAR_066391
VAR_066391 disease phenotype-associated
VAR_066391 phenoCommon Myopia type 21 (MYP21) [MIM:614167]
VAR_066392 commonName VAR_066392
VAR_066392 disease phenotype-associated
VAR_066392 phenoCommon Myopia type 21 (MYP21) [MIM:614167]
VAR_066393 commonName VAR_066393
VAR_066393 disease phenotype-associated
VAR_066393 phenoCommon Brittle cornea syndrome type 2 (BCS2) [MIM:614170]
VAR_066394 commonName VAR_066394
VAR_066394 disease phenotype-associated
VAR_066394 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_066395 commonName VAR_066395
VAR_066395 disease phenotype-associated
VAR_066395 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_066396 commonName VAR_066396
VAR_066396 disease phenotype-associated
VAR_066396 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_066397 commonName VAR_066397
VAR_066397 disease phenotype-associated
VAR_066397 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220]
VAR_066398 commonName VAR_066398
VAR_066398 disease phenotype-associated
VAR_066398 phenoCommon Nail disorder non-syndromic congenital type 10 (NDNC10) [MIM:614157]
VAR_066399 commonName VAR_066399
VAR_066399 disease phenotype-associated
VAR_066399 phenoCommon Nail disorder non-syndromic congenital type 3 (NDNC3) [MIM:151600]
VAR_066400 commonName VAR_066400
VAR_066400 disease phenotype-associated
VAR_066400 phenoCommon Nail disorder non-syndromic congenital type 3 (NDNC3) [MIM:151600]
VAR_066402 commonName VAR_066402
VAR_066402 disease phenotype-associated
VAR_066402 phenoCommon Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) [MIM:614080]
VAR_066404 commonName VAR_066404
VAR_066404 disease phenotype-associated
VAR_066404 phenoCommon Cortical malformations occipital (OCCM) [MIM:614115]
VAR_066405 commonName VAR_066405
VAR_066405 disease phenotype-associated
VAR_066405 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
VAR_066406 commonName VAR_066406
VAR_066406 disease phenotype-associated
VAR_066406 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
VAR_066406 phenoCommon Myelodysplastic syndrome (MDS) [MIM:614286]
VAR_066407 commonName VAR_066407
VAR_066407 disease phenotype-associated
VAR_066407 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
VAR_066409 commonName VAR_066409
VAR_066409 disease phenotype-associated
VAR_066409 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880]
VAR_066410 commonName VAR_066410
VAR_066410 disease phenotype-associated
VAR_066410 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880]
VAR_066411 commonName VAR_066411
VAR_066411 disease phenotype-associated
VAR_066411 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880]
VAR_066412 commonName VAR_066412
VAR_066412 disease phenotype-associated
VAR_066412 phenoCommon Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
VAR_066413 commonName VAR_066413
VAR_066413 disease phenotype-associated
VAR_066413 phenoCommon Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
VAR_066414 commonName VAR_066414
VAR_066414 disease phenotype-associated
VAR_066414 phenoCommon Agnathia-otocephaly complex (AGOTC) [MIM:202650]
VAR_066416 commonName VAR_066416
VAR_066416 disease phenotype-associated
VAR_066416 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066417 commonName VAR_066417
VAR_066417 disease phenotype-associated
VAR_066417 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066418 commonName VAR_066418
VAR_066418 disease phenotype-associated
VAR_066418 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066419 commonName VAR_066419
VAR_066420 commonName VAR_066420
VAR_066420 disease phenotype-associated
VAR_066420 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066421 commonName VAR_066421
VAR_066421 disease phenotype-associated
VAR_066421 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066422 commonName VAR_066422
VAR_066422 disease phenotype-associated
VAR_066422 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066423 commonName VAR_066423
VAR_066423 disease phenotype-associated
VAR_066423 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066424 commonName VAR_066424
VAR_066424 disease phenotype-associated
VAR_066424 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066425 commonName VAR_066425
VAR_066425 disease not phenotype-associated
VAR_066426 commonName VAR_066426
VAR_066426 disease phenotype-associated
VAR_066426 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066427 commonName VAR_066427
VAR_066427 disease not phenotype-associated
VAR_066428 commonName VAR_066428
VAR_066428 disease phenotype-associated
VAR_066428 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066429 commonName VAR_066429
VAR_066429 disease phenotype-associated
VAR_066429 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066430 commonName VAR_066430
VAR_066430 disease phenotype-associated
VAR_066430 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066431 commonName VAR_066431
VAR_066431 disease phenotype-associated
VAR_066431 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066432 commonName VAR_066432
VAR_066432 disease phenotype-associated
VAR_066432 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066433 commonName VAR_066433
VAR_066433 disease phenotype-associated
VAR_066433 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066434 commonName VAR_066434
VAR_066434 disease phenotype-associated
VAR_066434 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066435 commonName VAR_066435
VAR_066435 disease phenotype-associated
VAR_066435 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066436 commonName VAR_066436
VAR_066436 disease phenotype-associated
VAR_066436 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066437 commonName VAR_066437
VAR_066437 disease phenotype-associated
VAR_066437 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066438 commonName VAR_066438
VAR_066438 disease phenotype-associated
VAR_066438 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066439 commonName VAR_066439
VAR_066440 commonName VAR_066440
VAR_066440 disease phenotype-associated
VAR_066440 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066441 commonName VAR_066441
VAR_066441 disease phenotype-associated
VAR_066441 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066442 commonName VAR_066442
VAR_066442 disease phenotype-associated
VAR_066442 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066443 commonName VAR_066443
VAR_066443 disease phenotype-associated
VAR_066443 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066444 commonName VAR_066444
VAR_066444 disease phenotype-associated
VAR_066444 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066445 commonName VAR_066445
VAR_066446 commonName VAR_066446
VAR_066446 disease phenotype-associated
VAR_066446 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
VAR_066447 commonName VAR_066447
VAR_066447 disease phenotype-associated
VAR_066447 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500]
VAR_066448 commonName VAR_066448
VAR_066448 disease phenotype-associated
VAR_066448 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500]
VAR_066450 commonName VAR_066450
VAR_066450 disease phenotype-associated
VAR_066450 phenoCommon Pallister-Hall syndrome (PHS) [MIM:146510]
VAR_066451 commonName VAR_066451
VAR_066451 disease phenotype-associated
VAR_066451 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_066452 commonName VAR_066452
VAR_066452 disease phenotype-associated
VAR_066452 phenoCommon Acrocallosal syndrome (ACLS) [MIM:200990]
VAR_066453 commonName VAR_066453
VAR_066454 commonName VAR_066454
VAR_066454 disease not phenotype-associated
VAR_066455 commonName VAR_066455
VAR_066455 disease phenotype-associated
VAR_066455 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_066456 commonName VAR_066456
VAR_066456 disease phenotype-associated
VAR_066456 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900]
VAR_066457 commonName VAR_066457
VAR_066457 disease phenotype-associated
VAR_066457 phenoCommon Hydrolethalus syndrome type 2 (HLS2) [MIM:614120]
VAR_066459 commonName VAR_066459
VAR_066460 commonName VAR_066460
VAR_066461 commonName VAR_066461
VAR_066462 commonName VAR_066462
VAR_066463 commonName VAR_066463
VAR_066464 commonName VAR_066464
VAR_066465 commonName VAR_066465
VAR_066466 commonName VAR_066466
VAR_066467 commonName VAR_066467
VAR_066476 commonName VAR_066476
VAR_066477 commonName VAR_066477
VAR_066477 disease not phenotype-associated
VAR_066478 commonName VAR_066478
VAR_066478 disease not phenotype-associated
VAR_066479 commonName VAR_066479
VAR_066479 disease not phenotype-associated
VAR_066480 commonName VAR_066480
VAR_066480 disease not phenotype-associated
VAR_066481 commonName VAR_066481
VAR_066482 commonName VAR_066482
VAR_066482 disease phenotype-associated
VAR_066482 phenoCommon Meckel syndrome type 5 (MKS5) [MIM:611561]
VAR_066484 commonName VAR_066484
VAR_066484 disease not phenotype-associated
VAR_066485 commonName VAR_066485
VAR_066486 commonName VAR_066486
VAR_066487 commonName VAR_066487
VAR_066487 disease phenotype-associated
VAR_066487 phenoCommon Deafness autosomal dominant type 64 (DFNA64) [MIM:614152]
VAR_066488 commonName VAR_066488
VAR_066488 disease phenotype-associated
VAR_066488 phenoCommon Leber congenital amaurosis type 16 (LCA16) [MIM:614186]
VAR_066489 commonName VAR_066489
VAR_066490 commonName VAR_066490
VAR_066490 disease phenotype-associated
VAR_066490 phenoCommon Leber congenital amaurosis type 16 (LCA16) [MIM:614186]
VAR_066491 commonName VAR_066491
VAR_066492 commonName VAR_066492
VAR_066492 disease phenotype-associated
VAR_066492 phenoCommon Nephrotic syndrome type 5 with or without ocular abnormalities (NPHS5) [MIM:614199]
VAR_066494 commonName VAR_066494
VAR_066494 disease phenotype-associated
VAR_066494 phenoCommon Van der Woude syndrome type 2 (VWS2) [MIM:606713]
VAR_066495 commonName VAR_066495
VAR_066495 disease phenotype-associated
VAR_066495 phenoCommon Warburg micro syndrome type 3 (WARBM3) [MIM:614222]
VAR_066497 commonName VAR_066497
VAR_066497 disease phenotype-associated
VAR_066497 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066498 commonName VAR_066498
VAR_066498 disease phenotype-associated
VAR_066498 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066499 commonName VAR_066499
VAR_066499 disease phenotype-associated
VAR_066499 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066500 commonName VAR_066500
VAR_066500 disease phenotype-associated
VAR_066500 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066501 commonName VAR_066501
VAR_066501 disease phenotype-associated
VAR_066501 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066502 commonName VAR_066502
VAR_066502 disease phenotype-associated
VAR_066502 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226]
VAR_066503 commonName VAR_066503
VAR_066503 disease phenotype-associated
VAR_066503 phenoCommon Primary pigmented nodular adrenocortical disease type 3 (PPNAD3) [MIM:614190]
VAR_066504 commonName VAR_066504
VAR_066504 disease phenotype-associated
VAR_066504 phenoCommon Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
VAR_066505 commonName VAR_066505
VAR_066505 disease phenotype-associated
VAR_066505 phenoCommon Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
VAR_066514 commonName VAR_066514
VAR_066514 disease phenotype-associated
VAR_066514 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_066515 commonName VAR_066515
VAR_066515 disease phenotype-associated
VAR_066515 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030]
VAR_066516 commonName VAR_066516
VAR_066516 disease phenotype-associated
VAR_066516 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066517 commonName VAR_066517
VAR_066517 disease phenotype-associated
VAR_066517 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066518 commonName VAR_066518
VAR_066518 disease phenotype-associated
VAR_066518 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066519 commonName VAR_066519
VAR_066519 disease phenotype-associated
VAR_066519 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066520 commonName VAR_066520
VAR_066520 disease phenotype-associated
VAR_066520 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066521 commonName VAR_066521
VAR_066521 disease phenotype-associated
VAR_066521 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066522 commonName VAR_066522
VAR_066522 disease phenotype-associated
VAR_066522 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066523 commonName VAR_066523
VAR_066523 disease phenotype-associated
VAR_066523 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_066525 commonName VAR_066525
VAR_066526 commonName VAR_066526
VAR_066543 commonName VAR_066543
VAR_066543 disease phenotype-associated
VAR_066543 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066544 commonName VAR_066544
VAR_066544 disease phenotype-associated
VAR_066544 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066545 commonName VAR_066545
VAR_066545 disease phenotype-associated
VAR_066545 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066546 commonName VAR_066546
VAR_066546 disease phenotype-associated
VAR_066546 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066547 commonName VAR_066547
VAR_066547 disease phenotype-associated
VAR_066547 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066548 commonName VAR_066548
VAR_066548 disease phenotype-associated
VAR_066548 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066549 commonName VAR_066549
VAR_066549 disease phenotype-associated
VAR_066549 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066551 commonName VAR_066551
VAR_066551 disease phenotype-associated
VAR_066551 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066552 commonName VAR_066552
VAR_066552 disease phenotype-associated
VAR_066552 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066553 commonName VAR_066553
VAR_066553 disease phenotype-associated
VAR_066553 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
VAR_066554 commonName VAR_066554
VAR_066554 disease phenotype-associated
VAR_066554 phenoCommon Knobloch syndrome type 2 (KNO2) [MIM:608454]
VAR_066555 commonName VAR_066555
VAR_066555 disease phenotype-associated
VAR_066555 phenoCommon Neuronal ceroid lipofuscinosis type 4B (CLN4B) [MIM:162350]
VAR_066557 commonName VAR_066557
VAR_066557 disease not phenotype-associated
VAR_066558 commonName VAR_066558
VAR_066558 disease not phenotype-associated
VAR_066559 commonName VAR_066559
VAR_066559 disease not phenotype-associated
VAR_066560 commonName VAR_066560
VAR_066560 disease not phenotype-associated
VAR_066561 commonName VAR_066561
VAR_066561 disease not phenotype-associated
VAR_066562 commonName VAR_066562
VAR_066562 disease phenotype-associated
VAR_066562 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]
VAR_066563 commonName VAR_066563
VAR_066563 disease phenotype-associated
VAR_066563 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]
VAR_066564 commonName VAR_066564
VAR_066564 disease phenotype-associated
VAR_066564 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]
VAR_066565 commonName VAR_066565
VAR_066565 disease phenotype-associated
VAR_066565 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]
VAR_066566 commonName VAR_066566
VAR_066566 disease phenotype-associated
VAR_066566 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]
VAR_066567 commonName VAR_066567
VAR_066568 commonName VAR_066568
VAR_066569 commonName VAR_066569
VAR_066569 disease phenotype-associated
VAR_066569 phenoCommon Microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231]
VAR_066570 commonName VAR_066570
VAR_066570 disease phenotype-associated
VAR_066570 phenoCommon Microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231]
VAR_066571 commonName VAR_066571
VAR_066571 disease not phenotype-associated
VAR_066573 commonName VAR_066573
VAR_066573 disease phenotype-associated
VAR_066573 phenoCommon Parkinson disease type 18 (PARK18) [MIM:614251]
VAR_066574 commonName VAR_066574
VAR_066574 disease not phenotype-associated
VAR_066575 commonName VAR_066575
VAR_066575 disease not phenotype-associated
VAR_066581 commonName VAR_066581
VAR_066582 commonName VAR_066582
VAR_066582 disease not phenotype-associated
VAR_066583 commonName VAR_066583
VAR_066583 disease not phenotype-associated
VAR_066584 commonName VAR_066584
VAR_066584 disease not phenotype-associated
VAR_066585 commonName VAR_066585
VAR_066586 commonName VAR_066586
VAR_066587 commonName VAR_066587
VAR_066587 disease not phenotype-associated
VAR_066588 commonName VAR_066588
VAR_066589 commonName VAR_066589
VAR_066590 commonName VAR_066590
VAR_066590 disease phenotype-associated
VAR_066590 phenoCommon Bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201]
VAR_066591 commonName VAR_066591
VAR_066591 disease phenotype-associated
VAR_066591 phenoCommon Bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201]
VAR_066592 commonName VAR_066592
VAR_066592 disease phenotype-associated
VAR_066592 phenoCommon Mental retardation autosomal recessive type 15 (MRT15) [MIM:614202]
VAR_066594 commonName VAR_066594
VAR_066594 disease phenotype-associated
VAR_066594 phenoCommon Mental retardation autosomal recessive type 12 (MRT12) [MIM:611090]
VAR_066596 commonName VAR_066596
VAR_066596 disease phenotype-associated
VAR_066596 phenoCommon Mental retardation autosomal recessive type 18 (MRT18) [MIM:614249]
VAR_066598 commonName VAR_066598
VAR_066598 disease phenotype-associated
VAR_066598 phenoCommon Mental retardation autosomal dominant type 8 (MRD8) [MIM:614254]
VAR_066599 commonName VAR_066599
VAR_066599 disease phenotype-associated
VAR_066599 phenoCommon Mental retardation autosomal dominant type 10 (MRD10) [MIM:614256]
VAR_066600 commonName VAR_066600
VAR_066600 disease phenotype-associated
VAR_066600 phenoCommon Mental retardation autosomal dominant type 11 (MRD11) [MIM:614257]
VAR_066601 commonName VAR_066601
VAR_066601 disease not phenotype-associated
VAR_066602 commonName VAR_066602
VAR_066602 disease not phenotype-associated
VAR_066603 commonName VAR_066603
VAR_066603 disease not phenotype-associated
VAR_066604 commonName VAR_066604
VAR_066604 disease phenotype-associated
VAR_066604 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_066605 commonName VAR_066605
VAR_066605 disease phenotype-associated
VAR_066605 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
VAR_066612 commonName VAR_066612
VAR_066612 disease not phenotype-associated
VAR_066613 commonName VAR_066613
VAR_066613 disease not phenotype-associated
VAR_066614 commonName VAR_066614
VAR_066614 disease phenotype-associated
VAR_066614 phenoCommon Sick sinus syndrome type 2 (SSS2) [MIM:163800]
VAR_066615 commonName VAR_066615
VAR_066615 disease not phenotype-associated
VAR_066616 commonName VAR_066616
VAR_066616 disease phenotype-associated
VAR_066616 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]
VAR_066617 commonName VAR_066617
VAR_066617 disease phenotype-associated
VAR_066617 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
VAR_066618 commonName VAR_066618
VAR_066618 disease phenotype-associated
VAR_066618 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
VAR_066619 commonName VAR_066619
VAR_066619 disease phenotype-associated
VAR_066619 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
VAR_066620 commonName VAR_066620
VAR_066620 disease phenotype-associated
VAR_066620 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
VAR_066623 commonName VAR_066623
VAR_066623 disease phenotype-associated
VAR_066623 phenoCommon Robinow syndrome autosomal dominant (DRS) [MIM:180700]
VAR_066624 commonName VAR_066624
VAR_066624 disease phenotype-associated
VAR_066624 phenoCommon Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]
VAR_066625 commonName VAR_066625
VAR_066625 disease not phenotype-associated
VAR_066627 commonName VAR_066627
VAR_066627 disease phenotype-associated
VAR_066627 phenoCommon Mental retardation syndromic X-linked Nascimento-type (MRXSN) [MIM:300860]
VAR_066628 commonName VAR_066628
VAR_066628 disease phenotype-associated
VAR_066628 phenoCommon Mental retardation syndromic X-linked Nascimento-type (MRXSN) [MIM:300860]
VAR_066629 commonName VAR_066629
VAR_066629 disease phenotype-associated
VAR_066629 phenoCommon Robinow syndrome autosomal dominant (DRS) [MIM:180700]
VAR_066630 commonName VAR_066630
VAR_066630 disease phenotype-associated
VAR_066630 phenoCommon Sclerosteosis type 2 (SOST2) [MIM:614305]
VAR_066631 commonName VAR_066631
VAR_066631 disease phenotype-associated
VAR_066631 phenoCommon Sclerosteosis type 2 (SOST2) [MIM:614305]
VAR_066632 commonName VAR_066632
VAR_066632 disease phenotype-associated
VAR_066632 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
VAR_066633 commonName VAR_066633
VAR_066633 disease phenotype-associated
VAR_066633 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
VAR_066634 commonName VAR_066634
VAR_066634 disease phenotype-associated
VAR_066634 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
VAR_066635 commonName VAR_066635
VAR_066635 disease phenotype-associated
VAR_066635 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
VAR_066637 commonName VAR_066637
VAR_066637 disease phenotype-associated
VAR_066637 phenoCommon Myopia high with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]
VAR_066638 commonName VAR_066638
VAR_066638 disease not phenotype-associated
VAR_066639 commonName VAR_066639
VAR_066639 disease phenotype-associated
VAR_066639 phenoCommon Multiple mitochondrial dysfunctions syndrome type 1 (MMDS1) [MIM:605711]
VAR_066640 commonName VAR_066640
VAR_066640 disease phenotype-associated
VAR_066640 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
VAR_066641 commonName VAR_066641
VAR_066641 disease phenotype-associated
VAR_066641 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
VAR_066642 commonName VAR_066642
VAR_066642 disease phenotype-associated
VAR_066642 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
VAR_066644 commonName VAR_066644
VAR_066644 disease phenotype-associated
VAR_066644 phenoCommon Lymphedema primary with myelodysplasia (LMPM) [MIM:614038]
VAR_066645 commonName VAR_066645
VAR_066645 disease phenotype-associated
VAR_066645 phenoCommon Lymphedema primary with myelodysplasia (LMPM) [MIM:614038]
VAR_066646 commonName VAR_066646
VAR_066646 disease phenotype-associated
VAR_066646 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204]
VAR_066647 commonName VAR_066647
VAR_066647 disease phenotype-associated
VAR_066647 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204]
VAR_066648 commonName VAR_066648
VAR_066648 disease phenotype-associated
VAR_066648 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204]
VAR_066649 commonName VAR_066649
VAR_066649 disease phenotype-associated
VAR_066649 phenoCommon Mental retardation autosomal dominant type 9 (MRD9) [MIM:614255]
VAR_066650 commonName VAR_066650
VAR_066650 disease phenotype-associated
VAR_066650 phenoCommon Spastic paraplegia autosomal recessive type 30 (SPG30) [MIM:610357]
VAR_066651 commonName VAR_066651
VAR_066651 disease phenotype-associated
VAR_066651 phenoCommon Charcot-Marie-Tooth disease type 2O (CMT2O) [MIM:614228]
VAR_066652 commonName VAR_066652
VAR_066652 disease phenotype-associated
VAR_066652 phenoCommon N-terminal acetyltransferase deficiency (NATD) [MIM:300855]
VAR_066653 commonName VAR_066653
VAR_066653 disease not phenotype-associated
VAR_066654 commonName VAR_066654
VAR_066654 disease not phenotype-associated
VAR_066655 commonName VAR_066655
VAR_066655 disease not phenotype-associated
VAR_066656 commonName VAR_066656
VAR_066657 commonName VAR_066657
VAR_066662 commonName VAR_066662
VAR_066662 disease not phenotype-associated
VAR_066663 commonName VAR_066663
VAR_066663 disease not phenotype-associated
VAR_066664 commonName VAR_066664
VAR_066664 disease phenotype-associated
VAR_066664 phenoCommon Spinocerebellar ataxia autosomal recessive type 11 (SCAR11) [MIM:614229]
VAR_066665 commonName VAR_066665
VAR_066666 commonName VAR_066666
VAR_066666 disease phenotype-associated
VAR_066666 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
VAR_066667 commonName VAR_066667
VAR_066667 disease phenotype-associated
VAR_066667 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
VAR_066668 commonName VAR_066668
VAR_066668 disease phenotype-associated
VAR_066668 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
VAR_066670 commonName VAR_066670
VAR_066670 disease phenotype-associated
VAR_066670 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300]
VAR_066671 commonName VAR_066671
VAR_066671 disease not phenotype-associated
VAR_066672 commonName VAR_066672
VAR_066672 disease phenotype-associated
VAR_066672 phenoCommon Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]
VAR_066673 commonName VAR_066673
VAR_066673 disease phenotype-associated
VAR_066673 phenoCommon Retinitis pigmentosa type 61 (RP61) [MIM:614180]
VAR_066674 commonName VAR_066674
VAR_066674 disease phenotype-associated
VAR_066674 phenoCommon Retinitis pigmentosa type 61 (RP61) [MIM:614180]
VAR_066677 commonName VAR_066677
VAR_066677 disease phenotype-associated
VAR_066677 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066678 commonName VAR_066678
VAR_066678 disease phenotype-associated
VAR_066678 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066679 commonName VAR_066679
VAR_066679 disease phenotype-associated
VAR_066679 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066680 commonName VAR_066680
VAR_066680 disease phenotype-associated
VAR_066680 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066681 commonName VAR_066681
VAR_066681 disease phenotype-associated
VAR_066681 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066682 commonName VAR_066682
VAR_066682 disease phenotype-associated
VAR_066682 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066683 commonName VAR_066683
VAR_066683 disease phenotype-associated
VAR_066683 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066684 commonName VAR_066684
VAR_066684 disease phenotype-associated
VAR_066684 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066685 commonName VAR_066685
VAR_066685 disease phenotype-associated
VAR_066685 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066686 commonName VAR_066686
VAR_066686 disease phenotype-associated
VAR_066686 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066687 commonName VAR_066687
VAR_066687 disease phenotype-associated
VAR_066687 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066688 commonName VAR_066688
VAR_066688 disease phenotype-associated
VAR_066688 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066689 commonName VAR_066689
VAR_066689 disease phenotype-associated
VAR_066689 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066690 commonName VAR_066690
VAR_066690 disease phenotype-associated
VAR_066690 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066691 commonName VAR_066691
VAR_066691 disease phenotype-associated
VAR_066691 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066692 commonName VAR_066692
VAR_066692 disease phenotype-associated
VAR_066692 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066694 commonName VAR_066694
VAR_066694 disease phenotype-associated
VAR_066694 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066695 commonName VAR_066695
VAR_066695 disease phenotype-associated
VAR_066695 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066696 commonName VAR_066696
VAR_066696 disease phenotype-associated
VAR_066696 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066697 commonName VAR_066697
VAR_066697 disease phenotype-associated
VAR_066697 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066698 commonName VAR_066698
VAR_066698 disease phenotype-associated
VAR_066698 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066699 commonName VAR_066699
VAR_066699 disease phenotype-associated
VAR_066699 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066700 commonName VAR_066700
VAR_066700 disease phenotype-associated
VAR_066700 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066701 commonName VAR_066701
VAR_066701 disease phenotype-associated
VAR_066701 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066702 commonName VAR_066702
VAR_066702 disease phenotype-associated
VAR_066702 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066703 commonName VAR_066703
VAR_066703 disease phenotype-associated
VAR_066703 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066704 commonName VAR_066704
VAR_066704 disease phenotype-associated
VAR_066704 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066705 commonName VAR_066705
VAR_066705 disease phenotype-associated
VAR_066705 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066706 commonName VAR_066706
VAR_066706 disease phenotype-associated
VAR_066706 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066707 commonName VAR_066707
VAR_066707 disease phenotype-associated
VAR_066707 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066708 commonName VAR_066708
VAR_066708 disease phenotype-associated
VAR_066708 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066709 commonName VAR_066709
VAR_066709 disease phenotype-associated
VAR_066709 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_066710 commonName VAR_066710
VAR_066710 disease phenotype-associated
VAR_066710 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066711 commonName VAR_066711
VAR_066711 disease phenotype-associated
VAR_066711 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]
VAR_066712 commonName VAR_066712
VAR_066712 disease phenotype-associated
VAR_066712 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066713 commonName VAR_066713
VAR_066713 disease phenotype-associated
VAR_066713 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066714 commonName VAR_066714
VAR_066714 disease phenotype-associated
VAR_066714 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066715 commonName VAR_066715
VAR_066715 disease phenotype-associated
VAR_066715 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066716 commonName VAR_066716
VAR_066716 disease phenotype-associated
VAR_066716 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066717 commonName VAR_066717
VAR_066717 disease phenotype-associated
VAR_066717 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066718 commonName VAR_066718
VAR_066718 disease phenotype-associated
VAR_066718 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066719 commonName VAR_066719
VAR_066719 disease phenotype-associated
VAR_066719 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_066720 commonName VAR_066720
VAR_066720 disease phenotype-associated
VAR_066720 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_066721 commonName VAR_066721
VAR_066721 disease phenotype-associated
VAR_066721 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_066722 commonName VAR_066722
VAR_066722 disease phenotype-associated
VAR_066722 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
VAR_066732 commonName VAR_066732
VAR_066732 disease phenotype-associated
VAR_066732 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066733 commonName VAR_066733
VAR_066733 disease phenotype-associated
VAR_066733 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066734 commonName VAR_066734
VAR_066734 disease phenotype-associated
VAR_066734 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066735 commonName VAR_066735
VAR_066735 disease phenotype-associated
VAR_066735 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066736 commonName VAR_066736
VAR_066736 disease phenotype-associated
VAR_066736 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066737 commonName VAR_066737
VAR_066737 disease phenotype-associated
VAR_066737 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066738 commonName VAR_066738
VAR_066738 disease phenotype-associated
VAR_066738 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066739 commonName VAR_066739
VAR_066739 disease phenotype-associated
VAR_066739 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066740 commonName VAR_066740
VAR_066740 disease phenotype-associated
VAR_066740 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066741 commonName VAR_066741
VAR_066741 disease phenotype-associated
VAR_066741 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066742 commonName VAR_066742
VAR_066742 disease phenotype-associated
VAR_066742 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066743 commonName VAR_066743
VAR_066743 disease phenotype-associated
VAR_066743 phenoCommon Dystonia type 11 (DYT11) [MIM:159900]
VAR_066744 commonName VAR_066744
VAR_066744 disease phenotype-associated
VAR_066744 phenoCommon Progressive myoclonic epilepsy type 4 with or without renal failure (EPM4) [MIM:254900]
VAR_066745 commonName VAR_066745
VAR_066747 commonName VAR_066747
VAR_066747 disease phenotype-associated
VAR_066747 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266]
VAR_066748 commonName VAR_066748
VAR_066748 disease phenotype-associated
VAR_066748 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066748 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584]
VAR_066749 commonName VAR_066749
VAR_066749 disease phenotype-associated
VAR_066749 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066750 commonName VAR_066750
VAR_066750 disease phenotype-associated
VAR_066750 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266]
VAR_066751 commonName VAR_066751
VAR_066751 disease phenotype-associated
VAR_066751 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066752 commonName VAR_066752
VAR_066752 disease phenotype-associated
VAR_066752 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266]
VAR_066753 commonName VAR_066753
VAR_066753 disease phenotype-associated
VAR_066753 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584]
VAR_066754 commonName VAR_066754
VAR_066754 disease phenotype-associated
VAR_066754 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066755 commonName VAR_066755
VAR_066755 disease phenotype-associated
VAR_066755 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066756 commonName VAR_066756
VAR_066756 disease phenotype-associated
VAR_066756 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066757 commonName VAR_066757
VAR_066757 disease phenotype-associated
VAR_066757 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066758 commonName VAR_066758
VAR_066758 disease phenotype-associated
VAR_066758 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]
VAR_066759 commonName VAR_066759
VAR_066759 disease not phenotype-associated
VAR_066760 commonName VAR_066760
VAR_066760 disease phenotype-associated
VAR_066760 phenoCommon Renal dysplasia, cystic (CYSRD) [MIM:601331]
VAR_066761 commonName VAR_066761
VAR_066761 disease not phenotype-associated
VAR_066762 commonName VAR_066762
VAR_066762 disease not phenotype-associated
VAR_066763 commonName VAR_066763
VAR_066763 disease phenotype-associated
VAR_066763 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066764 commonName VAR_066764
VAR_066764 disease phenotype-associated
VAR_066764 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066765 commonName VAR_066765
VAR_066765 disease not phenotype-associated
VAR_066766 commonName VAR_066766
VAR_066766 disease phenotype-associated
VAR_066766 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066767 commonName VAR_066767
VAR_066767 disease phenotype-associated
VAR_066767 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066769 commonName VAR_066769
VAR_066769 disease not phenotype-associated
VAR_066770 commonName VAR_066770
VAR_066770 disease phenotype-associated
VAR_066770 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066771 commonName VAR_066771
VAR_066771 disease phenotype-associated
VAR_066771 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066772 commonName VAR_066772
VAR_066772 disease phenotype-associated
VAR_066772 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066773 commonName VAR_066773
VAR_066773 disease not phenotype-associated
VAR_066774 commonName VAR_066774
VAR_066774 disease phenotype-associated
VAR_066774 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066775 commonName VAR_066775
VAR_066775 disease phenotype-associated
VAR_066775 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559]
VAR_066777 commonName VAR_066777
VAR_066777 disease not phenotype-associated
VAR_066778 commonName VAR_066778
VAR_066778 disease not phenotype-associated
VAR_066779 commonName VAR_066779
VAR_066779 disease not phenotype-associated
VAR_066780 commonName VAR_066780
VAR_066780 disease not phenotype-associated
VAR_066781 commonName VAR_066781
VAR_066781 disease phenotype-associated
VAR_066781 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_066782 commonName VAR_066782
VAR_066782 disease not phenotype-associated
VAR_066783 commonName VAR_066783
VAR_066783 disease not phenotype-associated
VAR_066784 commonName VAR_066784
VAR_066784 disease not phenotype-associated
VAR_066785 commonName VAR_066785
VAR_066785 disease phenotype-associated
VAR_066785 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_066786 commonName VAR_066786
VAR_066786 disease phenotype-associated
VAR_066786 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_066787 commonName VAR_066787
VAR_066787 disease phenotype-associated
VAR_066787 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
VAR_066788 commonName VAR_066788
VAR_066788 disease not phenotype-associated
VAR_066789 commonName VAR_066789
VAR_066789 disease phenotype-associated
VAR_066789 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066790 commonName VAR_066790
VAR_066790 disease phenotype-associated
VAR_066790 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066791 commonName VAR_066791
VAR_066791 disease phenotype-associated
VAR_066791 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066792 commonName VAR_066792
VAR_066792 disease phenotype-associated
VAR_066792 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066793 commonName VAR_066793
VAR_066793 disease phenotype-associated
VAR_066793 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066794 commonName VAR_066794
VAR_066794 disease phenotype-associated
VAR_066794 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066795 commonName VAR_066795
VAR_066795 disease phenotype-associated
VAR_066795 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066796 commonName VAR_066796
VAR_066796 disease phenotype-associated
VAR_066796 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066798 commonName VAR_066798
VAR_066798 disease phenotype-associated
VAR_066798 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066800 commonName VAR_066800
VAR_066800 disease phenotype-associated
VAR_066800 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066801 commonName VAR_066801
VAR_066801 disease phenotype-associated
VAR_066801 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066802 commonName VAR_066802
VAR_066802 disease phenotype-associated
VAR_066802 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066803 commonName VAR_066803
VAR_066803 disease phenotype-associated
VAR_066803 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066804 commonName VAR_066804
VAR_066804 disease phenotype-associated
VAR_066804 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066805 commonName VAR_066805
VAR_066805 disease phenotype-associated
VAR_066805 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066807 commonName VAR_066807
VAR_066807 disease phenotype-associated
VAR_066807 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066808 commonName VAR_066808
VAR_066808 disease phenotype-associated
VAR_066808 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066810 commonName VAR_066810
VAR_066810 disease phenotype-associated
VAR_066810 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066811 commonName VAR_066811
VAR_066811 disease phenotype-associated
VAR_066811 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066812 commonName VAR_066812
VAR_066812 disease phenotype-associated
VAR_066812 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066813 commonName VAR_066813
VAR_066813 disease phenotype-associated
VAR_066813 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066815 commonName VAR_066815
VAR_066815 disease phenotype-associated
VAR_066815 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066816 commonName VAR_066816
VAR_066816 disease phenotype-associated
VAR_066816 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066819 commonName VAR_066819
VAR_066819 disease phenotype-associated
VAR_066819 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066820 commonName VAR_066820
VAR_066820 disease phenotype-associated
VAR_066820 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066821 commonName VAR_066821
VAR_066821 disease phenotype-associated
VAR_066821 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066822 commonName VAR_066822
VAR_066822 disease phenotype-associated
VAR_066822 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066823 commonName VAR_066823
VAR_066823 disease phenotype-associated
VAR_066823 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066824 commonName VAR_066824
VAR_066824 disease phenotype-associated
VAR_066824 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066825 commonName VAR_066825
VAR_066825 disease phenotype-associated
VAR_066825 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066826 commonName VAR_066826
VAR_066826 disease phenotype-associated
VAR_066826 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066827 commonName VAR_066827
VAR_066827 disease phenotype-associated
VAR_066827 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
VAR_066828 commonName VAR_066828
VAR_066828 disease phenotype-associated
VAR_066828 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170]
VAR_066831 commonName VAR_066831
VAR_066831 disease phenotype-associated
VAR_066831 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_066832 commonName VAR_066832
VAR_066832 disease phenotype-associated
VAR_066832 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_066833 commonName VAR_066833
VAR_066833 disease phenotype-associated
VAR_066833 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_066834 commonName VAR_066834
VAR_066834 disease phenotype-associated
VAR_066834 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
VAR_066835 commonName VAR_066835
VAR_066835 disease phenotype-associated
VAR_066835 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]
VAR_066836 commonName VAR_066836
VAR_066837 commonName VAR_066837
VAR_066838 commonName VAR_066838
VAR_066838 disease phenotype-associated
VAR_066838 phenoCommon Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
VAR_066839 commonName VAR_066839
VAR_066839 disease phenotype-associated
VAR_066839 phenoCommon Pitt-Hopkins syndrome (PTHS) [MIM:610954]
VAR_066843 commonName VAR_066843
VAR_066843 disease phenotype-associated
VAR_066843 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_066844 commonName VAR_066844
VAR_066844 disease phenotype-associated
VAR_066844 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_066845 commonName VAR_066845
VAR_066845 disease phenotype-associated
VAR_066845 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_066846 commonName VAR_066846
VAR_066846 disease phenotype-associated
VAR_066846 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140]
VAR_066849 commonName VAR_066849
VAR_066849 disease phenotype-associated
VAR_066849 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]
VAR_066850 commonName VAR_066850
VAR_066850 disease not phenotype-associated
VAR_066851 commonName VAR_066851
VAR_066852 commonName VAR_066852
VAR_066853 commonName VAR_066853
VAR_066853 disease not phenotype-associated
VAR_066854 commonName VAR_066854
VAR_066855 commonName VAR_066855
VAR_066856 commonName VAR_066856
VAR_066856 disease not phenotype-associated
VAR_066857 commonName VAR_066857
VAR_066858 commonName VAR_066858
VAR_066860 commonName VAR_066860
VAR_066860 disease phenotype-associated
VAR_066860 phenoCommon Leber congenital amaurosis (LCA)
VAR_066861 commonName VAR_066861
VAR_066861 disease phenotype-associated
VAR_066861 phenoCommon Leber congenital amaurosis (LCA)
VAR_066862 commonName VAR_066862
VAR_066862 disease phenotype-associated
VAR_066862 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_066864 commonName VAR_066864
VAR_066865 commonName VAR_066865
VAR_066866 commonName VAR_066866
VAR_066867 commonName VAR_066867
VAR_066867 disease phenotype-associated
VAR_066867 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_066868 commonName VAR_066868
VAR_066868 disease phenotype-associated
VAR_066868 phenoCommon Fish-eye disease (FED) [MIM:136120]
VAR_066869 commonName VAR_066869
VAR_066869 disease phenotype-associated
VAR_066869 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_066870 commonName VAR_066870
VAR_066870 disease not phenotype-associated
VAR_066871 commonName VAR_066871
VAR_066871 disease phenotype-associated
VAR_066871 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600]
VAR_066872 commonName VAR_066872
VAR_066872 disease not phenotype-associated
VAR_066873 commonName VAR_066873
VAR_066873 disease phenotype-associated
VAR_066873 phenoCommon Facial clefting oblique type 1 (OBLFC1) [MIM:600251]
VAR_066874 commonName VAR_066874
VAR_066874 disease phenotype-associated
VAR_066874 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066875 commonName VAR_066875
VAR_066875 disease phenotype-associated
VAR_066875 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066876 commonName VAR_066876
VAR_066876 disease phenotype-associated
VAR_066876 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066877 commonName VAR_066877
VAR_066877 disease phenotype-associated
VAR_066877 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066878 commonName VAR_066878
VAR_066878 disease phenotype-associated
VAR_066878 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066879 commonName VAR_066879
VAR_066879 disease phenotype-associated
VAR_066879 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066880 commonName VAR_066880
VAR_066880 disease phenotype-associated
VAR_066880 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066881 commonName VAR_066881
VAR_066881 disease phenotype-associated
VAR_066881 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066882 commonName VAR_066882
VAR_066882 disease phenotype-associated
VAR_066882 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]
VAR_066883 commonName VAR_066883
VAR_066883 disease phenotype-associated
VAR_066883 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_066884 commonName VAR_066884
VAR_066884 disease phenotype-associated
VAR_066884 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_066885 commonName VAR_066885
VAR_066885 disease phenotype-associated
VAR_066885 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]
VAR_066892 commonName VAR_066892
VAR_066892 disease phenotype-associated
VAR_066892 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
VAR_066893 commonName VAR_066893
VAR_066893 disease phenotype-associated
VAR_066893 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
VAR_066894 commonName VAR_066894
VAR_066894 disease phenotype-associated
VAR_066894 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
VAR_066895 commonName VAR_066895
VAR_066895 disease phenotype-associated
VAR_066895 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066896 commonName VAR_066896
VAR_066896 disease phenotype-associated
VAR_066896 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066897 commonName VAR_066897
VAR_066897 disease phenotype-associated
VAR_066897 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066898 commonName VAR_066898
VAR_066898 disease phenotype-associated
VAR_066898 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066899 commonName VAR_066899
VAR_066899 disease phenotype-associated
VAR_066899 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066900 commonName VAR_066900
VAR_066900 disease phenotype-associated
VAR_066900 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066901 commonName VAR_066901
VAR_066901 disease phenotype-associated
VAR_066901 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066902 commonName VAR_066902
VAR_066902 disease phenotype-associated
VAR_066902 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066903 commonName VAR_066903
VAR_066903 disease phenotype-associated
VAR_066903 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
VAR_066904 commonName VAR_066904
VAR_066904 disease phenotype-associated
VAR_066904 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066905 commonName VAR_066905
VAR_066905 disease phenotype-associated
VAR_066905 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066906 commonName VAR_066906
VAR_066906 disease phenotype-associated
VAR_066906 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066907 commonName VAR_066907
VAR_066907 disease phenotype-associated
VAR_066907 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066908 commonName VAR_066908
VAR_066908 disease phenotype-associated
VAR_066908 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066909 commonName VAR_066909
VAR_066909 disease phenotype-associated
VAR_066909 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066910 commonName VAR_066910
VAR_066910 disease phenotype-associated
VAR_066910 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066911 commonName VAR_066911
VAR_066911 disease phenotype-associated
VAR_066911 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066912 commonName VAR_066912
VAR_066912 disease phenotype-associated
VAR_066912 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066913 commonName VAR_066913
VAR_066913 disease phenotype-associated
VAR_066913 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066914 commonName VAR_066914
VAR_066914 disease phenotype-associated
VAR_066914 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
VAR_066915 commonName VAR_066915
VAR_066915 disease phenotype-associated
VAR_066915 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_066916 commonName VAR_066916
VAR_066916 disease phenotype-associated
VAR_066916 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_066917 commonName VAR_066917
VAR_066917 disease phenotype-associated
VAR_066917 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_066918 commonName VAR_066918
VAR_066918 disease phenotype-associated
VAR_066918 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_066919 commonName VAR_066919
VAR_066919 disease phenotype-associated
VAR_066919 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]
VAR_066920 commonName VAR_066920
VAR_066920 disease phenotype-associated
VAR_066920 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066921 commonName VAR_066921
VAR_066921 disease phenotype-associated
VAR_066921 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066922 commonName VAR_066922
VAR_066922 disease phenotype-associated
VAR_066922 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066923 commonName VAR_066923
VAR_066923 disease phenotype-associated
VAR_066923 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066924 commonName VAR_066924
VAR_066924 disease phenotype-associated
VAR_066924 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066926 commonName VAR_066926
VAR_066926 disease phenotype-associated
VAR_066926 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066927 commonName VAR_066927
VAR_066927 disease phenotype-associated
VAR_066927 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066928 commonName VAR_066928
VAR_066928 disease phenotype-associated
VAR_066928 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
VAR_066929 commonName VAR_066929
VAR_066929 disease phenotype-associated
VAR_066929 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_066930 commonName VAR_066930
VAR_066930 disease phenotype-associated
VAR_066930 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_066931 commonName VAR_066931
VAR_066931 disease phenotype-associated
VAR_066931 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
VAR_066932 commonName VAR_066932
VAR_066932 disease not phenotype-associated
VAR_066933 commonName VAR_066933
VAR_066933 disease phenotype-associated
VAR_066933 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510]
VAR_066934 commonName VAR_066934
VAR_066934 disease not phenotype-associated
VAR_066935 commonName VAR_066935
VAR_066935 disease not phenotype-associated
VAR_066936 commonName VAR_066936
VAR_066936 disease not phenotype-associated
VAR_066937 commonName VAR_066937
VAR_066937 disease not phenotype-associated
VAR_066938 commonName VAR_066938
VAR_066943 commonName VAR_066943
VAR_066943 disease phenotype-associated
VAR_066943 phenoCommon Kindler syndrome (KINDS) [MIM:173650]
VAR_066946 commonName VAR_066946
VAR_066946 disease phenotype-associated
VAR_066946 phenoCommon Epilepsy, familial temporal lobe, type 5 (ETL5) [MIM:614417]
VAR_066947 commonName VAR_066947
VAR_066947 disease phenotype-associated
VAR_066947 phenoCommon Familial febrile convulsions type 11 (FEB11) [MIM:614418]
VAR_066948 commonName VAR_066948
VAR_066948 disease not phenotype-associated
VAR_066949 commonName VAR_066949
VAR_066949 disease not phenotype-associated
VAR_066950 commonName VAR_066950
VAR_066950 disease not phenotype-associated
VAR_066951 commonName VAR_066951
VAR_066951 disease phenotype-associated
VAR_066951 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_066952 commonName VAR_066952
VAR_066952 disease not phenotype-associated
VAR_066953 commonName VAR_066953
VAR_066953 disease not phenotype-associated
VAR_066954 commonName VAR_066954
VAR_066954 disease not phenotype-associated
VAR_066955 commonName VAR_066955
VAR_066955 disease not phenotype-associated
VAR_066956 commonName VAR_066956
VAR_066956 disease not phenotype-associated
VAR_066957 commonName VAR_066957
VAR_066957 disease not phenotype-associated
VAR_066958 commonName VAR_066958
VAR_066958 disease not phenotype-associated
VAR_066959 commonName VAR_066959
VAR_066959 disease phenotype-associated
VAR_066959 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_066960 commonName VAR_066960
VAR_066960 disease not phenotype-associated
VAR_066961 commonName VAR_066961
VAR_066961 disease not phenotype-associated
VAR_066962 commonName VAR_066962
VAR_066962 disease not phenotype-associated
VAR_066963 commonName VAR_066963
VAR_066963 disease not phenotype-associated
VAR_066964 commonName VAR_066964
VAR_066964 disease not phenotype-associated
VAR_066965 commonName VAR_066965
VAR_066965 disease not phenotype-associated
VAR_066966 commonName VAR_066966
VAR_066966 disease not phenotype-associated
VAR_066967 commonName VAR_066967
VAR_066968 commonName VAR_066968
VAR_066968 disease not phenotype-associated
VAR_066969 commonName VAR_066969
VAR_066969 disease not phenotype-associated
VAR_066975 commonName VAR_066975
VAR_066976 commonName VAR_066976
VAR_066976 disease phenotype-associated
VAR_066976 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066977 commonName VAR_066977
VAR_066977 disease phenotype-associated
VAR_066977 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066978 commonName VAR_066978
VAR_066978 disease phenotype-associated
VAR_066978 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066979 commonName VAR_066979
VAR_066980 commonName VAR_066980
VAR_066980 disease phenotype-associated
VAR_066980 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066981 commonName VAR_066981
VAR_066981 disease phenotype-associated
VAR_066981 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066982 commonName VAR_066982
VAR_066982 disease phenotype-associated
VAR_066982 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066983 commonName VAR_066983
VAR_066983 disease phenotype-associated
VAR_066983 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066984 commonName VAR_066984
VAR_066984 disease phenotype-associated
VAR_066984 phenoCommon Gray platelet syndrome (GPS) [MIM:139090]
VAR_066985 commonName VAR_066985
VAR_066985 disease not phenotype-associated
VAR_066986 commonName VAR_066986
VAR_066987 commonName VAR_066987
VAR_066988 commonName VAR_066988
VAR_066988 disease phenotype-associated
VAR_066988 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181]
VAR_066989 commonName VAR_066989
VAR_066989 disease phenotype-associated
VAR_066989 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181]
VAR_066990 commonName VAR_066990
VAR_066990 disease phenotype-associated
VAR_066990 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181]
VAR_066991 commonName VAR_066991
VAR_066991 disease phenotype-associated
VAR_066991 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181]
VAR_066992 commonName VAR_066992
VAR_066992 disease phenotype-associated
VAR_066992 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181]
VAR_066993 commonName VAR_066993
VAR_066993 disease not phenotype-associated
VAR_066994 commonName VAR_066994
VAR_066994 disease not phenotype-associated
VAR_066995 commonName VAR_066995
VAR_066995 disease not phenotype-associated
VAR_066996 commonName VAR_066996
VAR_066996 disease not phenotype-associated
VAR_066998 commonName VAR_066998
VAR_066998 disease not phenotype-associated
VAR_066999 commonName VAR_066999
VAR_066999 disease not phenotype-associated
VAR_067000 commonName VAR_067000
VAR_067000 disease not phenotype-associated
VAR_067001 commonName VAR_067001
VAR_067001 disease not phenotype-associated
VAR_067002 commonName VAR_067002
VAR_067002 disease not phenotype-associated
VAR_067003 commonName VAR_067003
VAR_067003 disease not phenotype-associated
VAR_067004 commonName VAR_067004
VAR_067004 disease phenotype-associated
VAR_067004 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]
VAR_067005 commonName VAR_067005
VAR_067005 disease phenotype-associated
VAR_067005 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
VAR_067006 commonName VAR_067006
VAR_067006 disease phenotype-associated
VAR_067006 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
VAR_067008 commonName VAR_067008
VAR_067008 disease phenotype-associated
VAR_067008 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
VAR_067009 commonName VAR_067009
VAR_067009 disease phenotype-associated
VAR_067009 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]
VAR_067010 commonName VAR_067010
VAR_067010 disease not phenotype-associated
VAR_067011 commonName VAR_067011
VAR_067011 disease not phenotype-associated
VAR_067012 commonName VAR_067012
VAR_067012 disease not phenotype-associated
VAR_067013 commonName VAR_067013
VAR_067013 disease not phenotype-associated
VAR_067014 commonName VAR_067014
VAR_067014 disease not phenotype-associated
VAR_067019 commonName VAR_067019
VAR_067036 commonName VAR_067036
VAR_067036 disease not phenotype-associated
VAR_067037 commonName VAR_067037
VAR_067037 disease not phenotype-associated
VAR_067038 commonName VAR_067038
VAR_067039 commonName VAR_067039
VAR_067039 disease not phenotype-associated
VAR_067041 commonName VAR_067041
VAR_067041 disease phenotype-associated
VAR_067041 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_067042 commonName VAR_067042
VAR_067042 disease phenotype-associated
VAR_067042 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_067043 commonName VAR_067043
VAR_067043 disease phenotype-associated
VAR_067043 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_067044 commonName VAR_067044
VAR_067044 disease phenotype-associated
VAR_067044 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
VAR_067045 commonName VAR_067045
VAR_067045 disease phenotype-associated
VAR_067045 phenoCommon Arthrogryposis, distal, type 1B (DA1B) [MIM:614335]
VAR_067046 commonName VAR_067046
VAR_067046 disease phenotype-associated
VAR_067046 phenoCommon Arthrogryposis, distal, type 1B (DA1B) [MIM:614335]
VAR_067051 commonName VAR_067051
VAR_067051 disease phenotype-associated
VAR_067051 phenoCommon Loeys-Dietz syndrome type 1C (LDS1C) [MIM:613795]
VAR_067053 commonName VAR_067053
VAR_067053 disease phenotype-associated
VAR_067054 commonName VAR_067054
VAR_067055 commonName VAR_067055
VAR_067055 disease phenotype-associated
VAR_067056 commonName VAR_067056
VAR_067057 commonName VAR_067057
VAR_067058 commonName VAR_067058
VAR_067058 disease phenotype-associated
VAR_067059 commonName VAR_067059
VAR_067059 disease phenotype-associated
VAR_067059 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465]
VAR_067060 commonName VAR_067060
VAR_067060 disease phenotype-associated
VAR_067060 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465]
VAR_067061 commonName VAR_067061
VAR_067061 disease phenotype-associated
VAR_067061 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465]
VAR_067062 commonName VAR_067062
VAR_067062 disease phenotype-associated
VAR_067062 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465]
VAR_067063 commonName VAR_067063
VAR_067063 disease not phenotype-associated
VAR_067064 commonName VAR_067064
VAR_067064 disease not phenotype-associated
VAR_067065 commonName VAR_067065
VAR_067065 disease not phenotype-associated
VAR_067066 commonName VAR_067066
VAR_067066 disease not phenotype-associated
VAR_067067 commonName VAR_067067
VAR_067067 disease not phenotype-associated
VAR_067068 commonName VAR_067068
VAR_067068 disease not phenotype-associated
VAR_067069 commonName VAR_067069
VAR_067069 disease phenotype-associated
VAR_067069 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437]
VAR_067070 commonName VAR_067070
VAR_067070 disease phenotype-associated
VAR_067070 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437]
VAR_067071 commonName VAR_067071
VAR_067071 disease phenotype-associated
VAR_067071 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_067072 commonName VAR_067072
VAR_067072 disease phenotype-associated
VAR_067072 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_067073 commonName VAR_067073
VAR_067073 disease phenotype-associated
VAR_067073 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_067074 commonName VAR_067074
VAR_067074 disease phenotype-associated
VAR_067074 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574]
VAR_067075 commonName VAR_067075
VAR_067075 disease phenotype-associated
VAR_067075 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
VAR_067076 commonName VAR_067076
VAR_067076 disease phenotype-associated
VAR_067076 phenoCommon Ichthyosis harlequin (HI) [MIM:242500]
VAR_067077 commonName VAR_067077
VAR_067077 disease phenotype-associated
VAR_067077 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
VAR_067078 commonName VAR_067078
VAR_067078 disease phenotype-associated
VAR_067078 phenoCommon Ichthyosis harlequin (HI) [MIM:242500]
VAR_067079 commonName VAR_067079
VAR_067079 disease phenotype-associated
VAR_067079 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
VAR_067080 commonName VAR_067080
VAR_067080 disease phenotype-associated
VAR_067080 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
VAR_067084 commonName VAR_067084
VAR_067084 disease phenotype-associated
VAR_067084 phenoCommon Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]
VAR_067085 commonName VAR_067085
VAR_067085 disease phenotype-associated
VAR_067085 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]
VAR_067088 commonName VAR_067088
VAR_067088 disease phenotype-associated
VAR_067088 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_067089 commonName VAR_067089
VAR_067089 disease phenotype-associated
VAR_067089 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
VAR_067090 commonName VAR_067090
VAR_067090 disease phenotype-associated
VAR_067090 phenoCommon Familial hyperaldosteronism type 3 (FH3) [MIM:613677]
VAR_067091 comment Non-epithelial ovarian tumor
VAR_067091 commonName VAR_067091
VAR_067092 comment Non-epithelial ovarian tumor
VAR_067092 commonName VAR_067092
VAR_067093 comment Non-epithelial ovarian tumor
VAR_067093 commonName VAR_067093
VAR_067094 comment Non-epithelial ovarian tumor
VAR_067094 commonName VAR_067094
VAR_067095 comment Non-epithelial ovarian tumor
VAR_067095 commonName VAR_067095
VAR_067096 comment Non-epithelial ovarian tumor
VAR_067096 commonName VAR_067096
VAR_067097 comment Non-epithelial ovarian tumor
VAR_067097 commonName VAR_067097
VAR_067098 comment Non-epithelial ovarian tumor
VAR_067098 commonName VAR_067098
VAR_067099 comment Non-epithelial ovarian tumor
VAR_067099 commonName VAR_067099
VAR_067100 comment Non-epithelial ovarian tumor
VAR_067100 commonName VAR_067100
VAR_067101 commonName VAR_067101
VAR_067101 disease phenotype-associated
VAR_067101 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067102 commonName VAR_067102
VAR_067102 disease phenotype-associated
VAR_067102 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067103 commonName VAR_067103
VAR_067103 disease phenotype-associated
VAR_067103 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067104 commonName VAR_067104
VAR_067104 disease phenotype-associated
VAR_067104 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067105 commonName VAR_067105
VAR_067105 disease phenotype-associated
VAR_067105 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067106 commonName VAR_067106
VAR_067106 disease phenotype-associated
VAR_067106 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067107 commonName VAR_067107
VAR_067107 disease phenotype-associated
VAR_067107 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067108 commonName VAR_067108
VAR_067108 disease phenotype-associated
VAR_067108 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067109 commonName VAR_067109
VAR_067109 disease phenotype-associated
VAR_067109 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067110 commonName VAR_067110
VAR_067110 disease phenotype-associated
VAR_067110 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067111 commonName VAR_067111
VAR_067111 disease phenotype-associated
VAR_067111 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067112 commonName VAR_067112
VAR_067112 disease phenotype-associated
VAR_067112 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067113 commonName VAR_067113
VAR_067113 disease phenotype-associated
VAR_067113 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067114 commonName VAR_067114
VAR_067114 disease phenotype-associated
VAR_067114 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067116 commonName VAR_067116
VAR_067116 disease phenotype-associated
VAR_067116 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067117 commonName VAR_067117
VAR_067117 disease phenotype-associated
VAR_067117 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067118 commonName VAR_067118
VAR_067118 disease phenotype-associated
VAR_067118 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067119 commonName VAR_067119
VAR_067119 disease phenotype-associated
VAR_067119 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067120 commonName VAR_067120
VAR_067120 disease phenotype-associated
VAR_067120 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067121 commonName VAR_067121
VAR_067121 disease phenotype-associated
VAR_067121 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067122 commonName VAR_067122
VAR_067122 disease phenotype-associated
VAR_067122 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067123 commonName VAR_067123
VAR_067123 disease phenotype-associated
VAR_067123 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067124 commonName VAR_067124
VAR_067124 disease phenotype-associated
VAR_067124 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623]
VAR_067125 commonName VAR_067125
VAR_067125 disease phenotype-associated
VAR_067125 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067126 commonName VAR_067126
VAR_067126 disease phenotype-associated
VAR_067126 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067128 commonName VAR_067128
VAR_067128 disease not phenotype-associated
VAR_067129 commonName VAR_067129
VAR_067129 disease phenotype-associated
VAR_067130 commonName VAR_067130
VAR_067130 disease phenotype-associated
VAR_067130 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067131 commonName VAR_067131
VAR_067131 disease phenotype-associated
VAR_067131 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067132 commonName VAR_067132
VAR_067132 disease phenotype-associated
VAR_067132 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067133 commonName VAR_067133
VAR_067133 disease phenotype-associated
VAR_067133 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067134 commonName VAR_067134
VAR_067134 disease not phenotype-associated
VAR_067135 commonName VAR_067135
VAR_067136 commonName VAR_067136
VAR_067136 disease phenotype-associated
VAR_067136 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067137 commonName VAR_067137
VAR_067137 disease phenotype-associated
VAR_067137 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067138 commonName VAR_067138
VAR_067139 commonName VAR_067139
VAR_067139 disease phenotype-associated
VAR_067139 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067140 commonName VAR_067140
VAR_067140 disease phenotype-associated
VAR_067140 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067141 commonName VAR_067141
VAR_067141 disease phenotype-associated
VAR_067141 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_067142 commonName VAR_067142
VAR_067142 disease phenotype-associated
VAR_067142 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
VAR_067144 commonName VAR_067144
VAR_067144 disease not phenotype-associated
VAR_067160 commonName VAR_067160
VAR_067160 disease phenotype-associated
VAR_067160 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_067160 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794]
VAR_067161 commonName VAR_067161
VAR_067161 disease phenotype-associated
VAR_067161 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_067162 commonName VAR_067162
VAR_067163 commonName VAR_067163
VAR_067163 disease phenotype-associated
VAR_067163 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
VAR_067164 commonName VAR_067164
VAR_067165 commonName VAR_067165
VAR_067165 disease phenotype-associated
VAR_067165 phenoCommon Leber congenital amaurosis type 4 (LCA4) [MIM:604393]
VAR_067166 commonName VAR_067166
VAR_067168 commonName VAR_067168
VAR_067168 disease not phenotype-associated
VAR_067169 commonName VAR_067169
VAR_067169 disease phenotype-associated
VAR_067169 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067170 commonName VAR_067170
VAR_067170 disease phenotype-associated
VAR_067170 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067171 commonName VAR_067171
VAR_067171 disease phenotype-associated
VAR_067171 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067172 commonName VAR_067172
VAR_067174 commonName VAR_067174
VAR_067174 disease phenotype-associated
VAR_067174 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067175 commonName VAR_067175
VAR_067175 disease phenotype-associated
VAR_067175 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067176 commonName VAR_067176
VAR_067176 disease phenotype-associated
VAR_067176 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067177 commonName VAR_067177
VAR_067177 disease phenotype-associated
VAR_067177 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067178 commonName VAR_067178
VAR_067178 disease phenotype-associated
VAR_067178 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067179 commonName VAR_067179
VAR_067179 disease phenotype-associated
VAR_067179 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067180 commonName VAR_067180
VAR_067180 disease phenotype-associated
VAR_067180 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067181 commonName VAR_067181
VAR_067181 disease phenotype-associated
VAR_067181 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067182 commonName VAR_067182
VAR_067182 disease phenotype-associated
VAR_067182 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000]
VAR_067184 commonName VAR_067184
VAR_067185 commonName VAR_067185
VAR_067186 commonName VAR_067186
VAR_067186 disease phenotype-associated
VAR_067186 phenoCommon Leber congenital amaurosis type 6 (LCA6) [MIM:613826]
VAR_067189 commonName VAR_067189
VAR_067190 commonName VAR_067190
VAR_067190 disease not phenotype-associated
VAR_067191 commonName VAR_067191
VAR_067193 commonName VAR_067193
VAR_067194 commonName VAR_067194
VAR_067196 commonName VAR_067196
VAR_067196 disease phenotype-associated
VAR_067196 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890]
VAR_067197 commonName VAR_067197
VAR_067197 disease phenotype-associated
VAR_067197 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_067198 commonName VAR_067198
VAR_067198 disease phenotype-associated
VAR_067198 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
VAR_067199 commonName VAR_067199
VAR_067199 disease phenotype-associated
VAR_067199 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_067200 commonName VAR_067200
VAR_067200 disease phenotype-associated
VAR_067200 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
VAR_067201 commonName VAR_067201
VAR_067201 disease not phenotype-associated
VAR_067202 commonName VAR_067202
VAR_067202 disease not phenotype-associated
VAR_067203 commonName VAR_067203
VAR_067203 disease not phenotype-associated
VAR_067204 commonName VAR_067204
VAR_067204 disease not phenotype-associated
VAR_067205 commonName VAR_067205
VAR_067205 disease not phenotype-associated
VAR_067206 commonName VAR_067206
VAR_067206 disease not phenotype-associated
VAR_067207 commonName VAR_067207
VAR_067207 disease phenotype-associated
VAR_067207 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_067208 commonName VAR_067208
VAR_067208 disease phenotype-associated
VAR_067208 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_067209 commonName VAR_067209
VAR_067209 disease phenotype-associated
VAR_067209 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_067210 commonName VAR_067210
VAR_067210 disease phenotype-associated
VAR_067210 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_067211 commonName VAR_067211
VAR_067211 disease phenotype-associated
VAR_067211 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
VAR_067212 commonName VAR_067212
VAR_067212 disease phenotype-associated
VAR_067212 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219]
VAR_067213 commonName VAR_067213
VAR_067213 disease phenotype-associated
VAR_067213 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067214 commonName VAR_067214
VAR_067215 commonName VAR_067215
VAR_067215 disease phenotype-associated
VAR_067215 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067216 commonName VAR_067216
VAR_067217 commonName VAR_067217
VAR_067217 disease phenotype-associated
VAR_067217 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067218 commonName VAR_067218
VAR_067218 disease phenotype-associated
VAR_067218 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067219 commonName VAR_067219
VAR_067219 disease phenotype-associated
VAR_067219 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067220 commonName VAR_067220
VAR_067220 disease phenotype-associated
VAR_067220 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067221 commonName VAR_067221
VAR_067221 disease phenotype-associated
VAR_067221 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067222 commonName VAR_067222
VAR_067222 disease phenotype-associated
VAR_067222 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067223 commonName VAR_067223
VAR_067223 disease phenotype-associated
VAR_067223 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_067224 commonName VAR_067224
VAR_067224 disease phenotype-associated
VAR_067224 phenoCommon Autosomal recessive osteogenesis imperfecta (AR-OI)
VAR_067225 comment A patient with chronic myelomonocytic leukemia
VAR_067225 commonName VAR_067225
VAR_067226 comment A patient with chronic myelomonocytic leukemia
VAR_067226 commonName VAR_067226
VAR_067227 comment A patient with chronic myelomonocytic leukemia
VAR_067227 commonName VAR_067227
VAR_067228 comment A patient with diffuse large B-cell lymphoma
VAR_067228 commonName VAR_067228
VAR_067229 commonName VAR_067229
VAR_067230 commonName VAR_067230
VAR_067231 commonName VAR_067231
VAR_067232 commonName VAR_067232
VAR_067233 comment A patient with chronic myelomonocytic leukemia
VAR_067233 commonName VAR_067233
VAR_067234 comment A patient with chronic myelomonocytic leukemia
VAR_067234 commonName VAR_067234
VAR_067236 comment A patient with chronic myelomonocytic leukemia
VAR_067236 commonName VAR_067236
VAR_067237 comment A patient with chronic myelomonocytic leukemia
VAR_067237 commonName VAR_067237
VAR_067238 comment A patient with chronic myelomonocytic leukemia
VAR_067238 commonName VAR_067238
VAR_067240 commonName VAR_067240
VAR_067240 disease phenotype-associated
VAR_067240 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067241 commonName VAR_067241
VAR_067241 disease phenotype-associated
VAR_067241 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067242 commonName VAR_067242
VAR_067242 disease phenotype-associated
VAR_067242 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067243 commonName VAR_067243
VAR_067243 disease phenotype-associated
VAR_067243 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067244 commonName VAR_067244
VAR_067244 disease phenotype-associated
VAR_067244 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067245 commonName VAR_067245
VAR_067245 disease phenotype-associated
VAR_067245 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067246 commonName VAR_067246
VAR_067246 disease phenotype-associated
VAR_067246 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067247 commonName VAR_067247
VAR_067248 commonName VAR_067248
VAR_067248 disease phenotype-associated
VAR_067248 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]
VAR_067249 commonName VAR_067249
VAR_067250 commonName VAR_067250
VAR_067250 disease phenotype-associated
VAR_067250 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_067251 commonName VAR_067251
VAR_067251 disease phenotype-associated
VAR_067252 commonName VAR_067252
VAR_067252 disease phenotype-associated
VAR_067252 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300]
VAR_067253 commonName VAR_067253
VAR_067253 disease not phenotype-associated
VAR_067254 commonName VAR_067254
VAR_067254 disease not phenotype-associated
VAR_067255 commonName VAR_067255
VAR_067255 disease not phenotype-associated
VAR_067257 commonName VAR_067257
VAR_067257 disease phenotype-associated
VAR_067257 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_067258 commonName VAR_067258
VAR_067258 disease phenotype-associated
VAR_067258 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]
VAR_067260 commonName VAR_067260
VAR_067260 disease phenotype-associated
VAR_067260 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_067262 commonName VAR_067262
VAR_067262 disease phenotype-associated
VAR_067262 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_067263 commonName VAR_067263
VAR_067263 disease phenotype-associated
VAR_067263 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]
VAR_067264 commonName VAR_067264
VAR_067264 disease phenotype-associated
VAR_067264 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286]
VAR_067265 commonName VAR_067265
VAR_067265 disease phenotype-associated
VAR_067265 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]
VAR_067266 commonName VAR_067266
VAR_067266 disease phenotype-associated
VAR_067266 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]
VAR_067267 commonName VAR_067267
VAR_067267 disease phenotype-associated
VAR_067267 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]
VAR_067268 commonName VAR_067268
VAR_067268 disease phenotype-associated
VAR_067268 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]
VAR_067269 commonName VAR_067269
VAR_067269 disease phenotype-associated
VAR_067269 phenoCommon Microphthalmia isolated type 2 (MCOP2) [MIM:610093]
VAR_067270 commonName VAR_067270
VAR_067271 commonName VAR_067271
VAR_067272 commonName VAR_067272
VAR_067272 disease phenotype-associated
VAR_067272 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]
VAR_067273 commonName VAR_067273
VAR_067273 disease not phenotype-associated
VAR_067274 commonName VAR_067274
VAR_067274 disease phenotype-associated
VAR_067274 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_067275 commonName VAR_067275
VAR_067275 disease phenotype-associated
VAR_067276 commonName VAR_067276
VAR_067276 disease phenotype-associated
VAR_067276 phenoCommon Omenn syndrome (OS) [MIM:603554]
VAR_067282 commonName VAR_067282
VAR_067283 commonName VAR_067283
VAR_067283 disease not phenotype-associated
VAR_067284 commonName VAR_067284
VAR_067285 commonName VAR_067285
VAR_067286 commonName VAR_067286
VAR_067287 commonName VAR_067287
VAR_067288 commonName VAR_067288
VAR_067288 disease phenotype-associated
VAR_067288 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_067289 commonName VAR_067289
VAR_067294 commonName VAR_067294
VAR_067295 commonName VAR_067295
VAR_067296 commonName VAR_067296
VAR_067297 commonName VAR_067297
VAR_067300 commonName VAR_067300
VAR_067300 disease phenotype-associated
VAR_067300 phenoCommon Primary ciliary dyskinesia type 2 (CILD2) [MIM:606763]
VAR_067301 commonName VAR_067301
VAR_067301 disease not phenotype-associated
VAR_067302 commonName VAR_067302
VAR_067302 disease phenotype-associated
VAR_067302 phenoCommon Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]
VAR_067303 commonName VAR_067303
VAR_067303 disease phenotype-associated
VAR_067303 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_067304 commonName VAR_067304
VAR_067304 disease phenotype-associated
VAR_067304 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300]
VAR_067305 commonName VAR_067305
VAR_067305 disease phenotype-associated
VAR_067305 phenoCommon Cone-rod dystrophy type 16 (CORD16) [MIM:614500]
VAR_067306 commonName VAR_067306
VAR_067306 disease phenotype-associated
VAR_067306 phenoCommon Retinitis pigmentosa type 64 (RP64) [MIM:614500]
VAR_067307 commonName VAR_067307
VAR_067307 disease phenotype-associated
VAR_067308 commonName VAR_067308
VAR_067308 disease not phenotype-associated
VAR_067309 commonName VAR_067309
VAR_067309 disease phenotype-associated
VAR_067309 phenoCommon Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
VAR_067310 commonName VAR_067310
VAR_067310 disease phenotype-associated
VAR_067310 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]
VAR_067311 commonName VAR_067311
VAR_067311 disease phenotype-associated
VAR_067311 phenoCommon Amyotrophic lateral sclerosis type 16, juvenile (ALS16) [MIM:614373]
VAR_067312 commonName VAR_067312
VAR_067312 disease phenotype-associated
VAR_067312 phenoCommon Asphyxiating thoracic dystrophy type 5 (ATD5) [MIM:614376]
VAR_067313 commonName VAR_067313
VAR_067313 disease phenotype-associated
VAR_067313 phenoCommon Nephronophthisis type 13 (NPHP13) [MIM:614377]
VAR_067314 commonName VAR_067314
VAR_067314 disease phenotype-associated
VAR_067314 phenoCommon Cranioectodermal dysplasia type 4 (CED4) [MIM:614378]
VAR_067315 commonName VAR_067315
VAR_067315 disease not phenotype-associated
VAR_067316 commonName VAR_067316
VAR_067316 disease not phenotype-associated
VAR_067317 commonName VAR_067317
VAR_067317 disease not phenotype-associated
VAR_067318 commonName VAR_067318
VAR_067318 disease phenotype-associated
VAR_067318 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700]
VAR_067319 commonName VAR_067319
VAR_067319 disease phenotype-associated
VAR_067319 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100]
VAR_067320 commonName VAR_067320
VAR_067320 disease not phenotype-associated
VAR_067321 commonName VAR_067321
VAR_067321 disease not phenotype-associated
VAR_067322 commonName VAR_067322
VAR_067322 disease phenotype-associated
VAR_067322 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200]
VAR_067323 commonName VAR_067323
VAR_067323 disease phenotype-associated
VAR_067323 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200]
VAR_067324 commonName VAR_067324
VAR_067324 disease phenotype-associated
VAR_067324 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200]
VAR_067325 commonName VAR_067325
VAR_067325 disease phenotype-associated
VAR_067325 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200]
VAR_067326 commonName VAR_067326
VAR_067326 disease phenotype-associated
VAR_067326 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200]
VAR_067327 commonName VAR_067327
VAR_067327 disease phenotype-associated
VAR_067327 phenoCommon Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]
VAR_067328 commonName VAR_067328
VAR_067328 disease phenotype-associated
VAR_067328 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067329 commonName VAR_067329
VAR_067329 disease phenotype-associated
VAR_067329 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
VAR_067330 commonName VAR_067330
VAR_067330 disease phenotype-associated
VAR_067330 phenoCommon Spastic ataxia autosomal recessive type 5 (SPAX5) [MIM:614487]
VAR_067334 commonName VAR_067334
VAR_067334 disease phenotype-associated
VAR_067334 phenoCommon Combined oxidative phosphorylation deficiency type 6 (COXPD6) [MIM:300816]
VAR_067335 commonName VAR_067335
VAR_067335 disease phenotype-associated
VAR_067335 phenoCommon Wilson disease (WD) [MIM:277900]
VAR_067339 commonName VAR_067339
VAR_067340 commonName VAR_067340
VAR_067340 disease phenotype-associated
VAR_067340 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554]
VAR_067341 commonName VAR_067341
VAR_067341 disease phenotype-associated
VAR_067341 phenoCommon Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]
VAR_067342 commonName VAR_067342
VAR_067342 disease phenotype-associated
VAR_067342 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500]
VAR_067343 commonName VAR_067343
VAR_067343 disease phenotype-associated
VAR_067343 phenoCommon Fleck retina, familial benign (FRFB) [MIM:228980]
VAR_067344 commonName VAR_067344
VAR_067344 disease phenotype-associated
VAR_067344 phenoCommon Fleck retina, familial benign (FRFB) [MIM:228980]
VAR_067345 commonName VAR_067345
VAR_067345 disease phenotype-associated
VAR_067345 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546]
VAR_067346 commonName VAR_067346
VAR_067346 disease phenotype-associated
VAR_067346 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546]
VAR_067347 commonName VAR_067347
VAR_067347 disease phenotype-associated
VAR_067347 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546]
VAR_067348 commonName VAR_067348
VAR_067348 disease phenotype-associated
VAR_067348 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546]
VAR_067349 commonName VAR_067349
VAR_067349 disease not phenotype-associated
VAR_067350 commonName VAR_067350
VAR_067350 disease phenotype-associated
VAR_067351 commonName VAR_067351
VAR_067352 commonName VAR_067352
VAR_067352 disease phenotype-associated
VAR_067352 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]
VAR_067353 commonName VAR_067353
VAR_067353 disease phenotype-associated
VAR_067353 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]
VAR_067354 commonName VAR_067354
VAR_067354 disease phenotype-associated
VAR_067354 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
VAR_067355 commonName VAR_067355
VAR_067355 disease phenotype-associated
VAR_067355 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500]
VAR_067356 commonName VAR_067356
VAR_067356 disease phenotype-associated
VAR_067356 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_067357 commonName VAR_067357
VAR_067357 disease phenotype-associated
VAR_067357 phenoCommon Dystonia type 6 (DYT6) [MIM:602629]
VAR_067358 commonName VAR_067358
VAR_067358 disease phenotype-associated
VAR_067358 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_067359 commonName VAR_067359
VAR_067359 disease phenotype-associated
VAR_067359 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_067360 commonName VAR_067360
VAR_067360 disease phenotype-associated
VAR_067360 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_067361 commonName VAR_067361
VAR_067361 disease phenotype-associated
VAR_067361 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_067362 commonName VAR_067362
VAR_067362 disease phenotype-associated
VAR_067362 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
VAR_067363 commonName VAR_067363
VAR_067363 disease not phenotype-associated
VAR_067364 commonName VAR_067364
VAR_067364 disease not phenotype-associated
VAR_067365 commonName VAR_067365
VAR_067365 disease not phenotype-associated
VAR_067366 commonName VAR_067366
VAR_067366 disease not phenotype-associated
VAR_067368 commonName VAR_067368
VAR_067368 disease phenotype-associated
VAR_067368 phenoCommon Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]
VAR_067369 commonName VAR_067369
VAR_067369 disease phenotype-associated
VAR_067369 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067370 commonName VAR_067370
VAR_067370 disease phenotype-associated
VAR_067370 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067371 commonName VAR_067371
VAR_067371 disease phenotype-associated
VAR_067371 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067372 commonName VAR_067372
VAR_067372 disease phenotype-associated
VAR_067372 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067373 commonName VAR_067373
VAR_067373 disease phenotype-associated
VAR_067373 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067374 commonName VAR_067374
VAR_067374 disease phenotype-associated
VAR_067374 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067375 commonName VAR_067375
VAR_067375 disease phenotype-associated
VAR_067375 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067377 commonName VAR_067377
VAR_067377 disease phenotype-associated
VAR_067377 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067378 commonName VAR_067378
VAR_067378 disease phenotype-associated
VAR_067378 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
VAR_067380 commonName VAR_067380
VAR_067380 disease not phenotype-associated
VAR_067381 commonName VAR_067381
VAR_067381 disease phenotype-associated
VAR_067381 phenoCommon Atrioventricular septal defect type 5 (AVSD5) [MIM:614474]
VAR_067382 commonName VAR_067382
VAR_067382 disease phenotype-associated
VAR_067382 phenoCommon Atrial septal defect type 9 (ASD9) [MIM:614475]
VAR_067382 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500]
VAR_067383 commonName VAR_067383
VAR_067384 commonName VAR_067384
VAR_067384 disease phenotype-associated
VAR_067384 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067385 commonName VAR_067385
VAR_067385 disease phenotype-associated
VAR_067385 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067386 commonName VAR_067386
VAR_067386 disease phenotype-associated
VAR_067386 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067387 commonName VAR_067387
VAR_067387 disease phenotype-associated
VAR_067387 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067388 commonName VAR_067388
VAR_067388 disease phenotype-associated
VAR_067388 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095]
VAR_067389 commonName VAR_067389
VAR_067389 disease phenotype-associated
VAR_067389 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067390 commonName VAR_067390
VAR_067390 disease phenotype-associated
VAR_067390 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
VAR_067391 commonName VAR_067391
VAR_067391 disease phenotype-associated
VAR_067391 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458]
VAR_067392 commonName VAR_067392
VAR_067392 disease phenotype-associated
VAR_067392 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458]
VAR_067393 commonName VAR_067393
VAR_067393 disease phenotype-associated
VAR_067393 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458]
VAR_067394 commonName VAR_067394
VAR_067394 disease phenotype-associated
VAR_067394 phenoCommon Microphthalmia, isolated, with coloboma, type 7 (MCOPCB7) [MIM:614497]
VAR_067395 commonName VAR_067395
VAR_067395 disease phenotype-associated
VAR_067395 phenoCommon Microphthalmia, isolated, with coloboma, type 7 (MCOPCB7) [MIM:614497]
VAR_067397 commonName VAR_067397
VAR_067397 disease phenotype-associated
VAR_067397 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067398 commonName VAR_067398
VAR_067398 disease phenotype-associated
VAR_067398 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067399 commonName VAR_067399
VAR_067399 disease not phenotype-associated
VAR_067400 commonName VAR_067400
VAR_067400 disease not phenotype-associated
VAR_067401 commonName VAR_067401
VAR_067401 disease phenotype-associated
VAR_067401 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067402 commonName VAR_067402
VAR_067402 disease phenotype-associated
VAR_067402 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067404 commonName VAR_067404
VAR_067404 disease phenotype-associated
VAR_067404 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067405 commonName VAR_067405
VAR_067405 disease phenotype-associated
VAR_067405 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067406 commonName VAR_067406
VAR_067406 disease phenotype-associated
VAR_067406 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067407 commonName VAR_067407
VAR_067407 disease phenotype-associated
VAR_067407 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067409 commonName VAR_067409
VAR_067409 disease phenotype-associated
VAR_067409 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067410 commonName VAR_067410
VAR_067410 disease phenotype-associated
VAR_067410 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067411 commonName VAR_067411
VAR_067411 disease phenotype-associated
VAR_067411 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
VAR_067412 commonName VAR_067412
VAR_067413 commonName VAR_067413
VAR_067413 disease phenotype-associated
VAR_067413 phenoCommon Split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D) [MIM:220600]
VAR_067414 commonName VAR_067414
VAR_067414 disease phenotype-associated
VAR_067414 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_067415 commonName VAR_067415
VAR_067415 disease phenotype-associated
VAR_067415 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_067416 commonName VAR_067416
VAR_067416 disease phenotype-associated
VAR_067416 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_067417 commonName VAR_067417
VAR_067417 disease phenotype-associated
VAR_067417 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_067418 commonName VAR_067418
VAR_067418 disease phenotype-associated
VAR_067418 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100]
VAR_067423 commonName VAR_067423
VAR_067423 disease not phenotype-associated
VAR_067424 commonName VAR_067424
VAR_067424 disease not phenotype-associated
VAR_067425 commonName VAR_067425
VAR_067425 disease not phenotype-associated
VAR_067426 commonName VAR_067426
VAR_067426 disease not phenotype-associated
VAR_067427 commonName VAR_067427
VAR_067427 disease phenotype-associated
VAR_067427 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_067428 commonName VAR_067428
VAR_067428 disease phenotype-associated
VAR_067428 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_067429 commonName VAR_067429
VAR_067429 disease phenotype-associated
VAR_067429 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_067430 commonName VAR_067430
VAR_067430 disease phenotype-associated
VAR_067430 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
VAR_067431 commonName VAR_067431
VAR_067431 disease not phenotype-associated
VAR_067439 commonName VAR_067439
VAR_067439 disease not phenotype-associated
VAR_067440 commonName VAR_067440
VAR_067440 disease not phenotype-associated
VAR_067441 commonName VAR_067441
VAR_067441 disease not phenotype-associated
VAR_067442 commonName VAR_067442
VAR_067442 disease not phenotype-associated
VAR_067443 commonName VAR_067443
VAR_067443 disease not phenotype-associated
VAR_067444 commonName VAR_067444
VAR_067444 disease not phenotype-associated
VAR_067445 commonName VAR_067445
VAR_067445 disease not phenotype-associated
VAR_067446 commonName VAR_067446
VAR_067446 disease not phenotype-associated
VAR_067447 commonName VAR_067447
VAR_067447 disease not phenotype-associated
VAR_067448 commonName VAR_067448
VAR_067448 disease not phenotype-associated
VAR_067450 commonName VAR_067450
VAR_067450 disease not phenotype-associated
VAR_067451 commonName VAR_067451
VAR_067451 disease not phenotype-associated
VAR_067452 commonName VAR_067452
VAR_067452 disease not phenotype-associated
VAR_067453 commonName VAR_067453
VAR_067453 disease not phenotype-associated
VAR_067454 commonName VAR_067454
VAR_067454 disease not phenotype-associated
VAR_067456 commonName VAR_067456
VAR_067456 disease not phenotype-associated
VAR_067457 commonName VAR_067457
VAR_067457 disease not phenotype-associated
VAR_067458 commonName VAR_067458
VAR_067458 disease not phenotype-associated
VAR_067464 commonName VAR_067464
VAR_067464 disease not phenotype-associated
VAR_067465 commonName VAR_067465
VAR_067465 disease not phenotype-associated
VAR_067466 commonName VAR_067466
VAR_067466 disease not phenotype-associated
VAR_067469 commonName VAR_067469
VAR_067470 commonName VAR_067470
VAR_067470 disease phenotype-associated
VAR_067470 phenoCommon Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
VAR_067471 commonName VAR_067471
VAR_067471 disease phenotype-associated
VAR_067471 phenoCommon Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
VAR_067472 commonName VAR_067472
VAR_067472 disease phenotype-associated
VAR_067472 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067473 commonName VAR_067473
VAR_067473 disease phenotype-associated
VAR_067473 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067474 commonName VAR_067474
VAR_067474 disease phenotype-associated
VAR_067474 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067475 commonName VAR_067475
VAR_067475 disease phenotype-associated
VAR_067475 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067476 commonName VAR_067476
VAR_067476 disease phenotype-associated
VAR_067476 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067477 commonName VAR_067477
VAR_067477 disease phenotype-associated
VAR_067477 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067478 commonName VAR_067478
VAR_067478 disease phenotype-associated
VAR_067478 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067479 commonName VAR_067479
VAR_067479 disease phenotype-associated
VAR_067479 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067480 commonName VAR_067480
VAR_067480 disease phenotype-associated
VAR_067480 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067481 commonName VAR_067481
VAR_067481 disease phenotype-associated
VAR_067481 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067482 commonName VAR_067482
VAR_067482 disease phenotype-associated
VAR_067482 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067483 commonName VAR_067483
VAR_067483 disease phenotype-associated
VAR_067483 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067484 commonName VAR_067484
VAR_067484 disease phenotype-associated
VAR_067484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067485 commonName VAR_067485
VAR_067485 disease phenotype-associated
VAR_067485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]
VAR_067486 commonName VAR_067486
VAR_067486 disease not phenotype-associated
VAR_067487 commonName VAR_067487
VAR_067487 disease not phenotype-associated
VAR_067488 commonName VAR_067488
VAR_067488 disease not phenotype-associated
VAR_067489 commonName VAR_067489
VAR_067489 disease not phenotype-associated
VAR_067490 commonName VAR_067490
VAR_067490 disease phenotype-associated
VAR_067490 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_067491 commonName VAR_067491
VAR_067491 disease phenotype-associated
VAR_067491 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_067492 commonName VAR_067492
VAR_067492 disease phenotype-associated
VAR_067492 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_067493 commonName VAR_067493
VAR_067493 disease phenotype-associated
VAR_067493 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800]
VAR_067499 commonName VAR_067499
VAR_067499 disease phenotype-associated
VAR_067499 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_067500 commonName VAR_067500
VAR_067500 disease phenotype-associated
VAR_067500 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]
VAR_067501 commonName VAR_067501
VAR_067501 disease phenotype-associated
VAR_067501 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067502 commonName VAR_067502
VAR_067502 disease phenotype-associated
VAR_067502 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067503 commonName VAR_067503
VAR_067503 disease phenotype-associated
VAR_067503 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067504 commonName VAR_067504
VAR_067504 disease phenotype-associated
VAR_067504 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067505 commonName VAR_067505
VAR_067505 disease phenotype-associated
VAR_067505 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067506 commonName VAR_067506
VAR_067506 disease phenotype-associated
VAR_067506 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067507 commonName VAR_067507
VAR_067507 disease phenotype-associated
VAR_067507 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067508 commonName VAR_067508
VAR_067508 disease phenotype-associated
VAR_067508 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067509 commonName VAR_067509
VAR_067509 disease phenotype-associated
VAR_067509 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067510 commonName VAR_067510
VAR_067510 disease phenotype-associated
VAR_067510 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067511 commonName VAR_067511
VAR_067511 disease phenotype-associated
VAR_067511 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067512 commonName VAR_067512
VAR_067512 disease phenotype-associated
VAR_067512 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067513 commonName VAR_067513
VAR_067513 disease phenotype-associated
VAR_067513 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067514 commonName VAR_067514
VAR_067514 disease phenotype-associated
VAR_067514 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067515 commonName VAR_067515
VAR_067515 disease phenotype-associated
VAR_067515 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067516 commonName VAR_067516
VAR_067516 disease phenotype-associated
VAR_067516 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067517 commonName VAR_067517
VAR_067517 disease phenotype-associated
VAR_067517 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067518 commonName VAR_067518
VAR_067518 disease phenotype-associated
VAR_067518 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067519 commonName VAR_067519
VAR_067519 disease phenotype-associated
VAR_067519 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067520 commonName VAR_067520
VAR_067520 disease phenotype-associated
VAR_067520 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067521 commonName VAR_067521
VAR_067521 disease phenotype-associated
VAR_067521 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067522 commonName VAR_067522
VAR_067522 disease phenotype-associated
VAR_067522 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067523 commonName VAR_067523
VAR_067524 commonName VAR_067524
VAR_067524 disease phenotype-associated
VAR_067524 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067525 commonName VAR_067525
VAR_067525 disease phenotype-associated
VAR_067525 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067526 commonName VAR_067526
VAR_067526 disease phenotype-associated
VAR_067526 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]
VAR_067532 commonName VAR_067532
VAR_067532 disease phenotype-associated
VAR_067532 phenoCommon Pseudohypoaldosteronism type 2E (PHA2E) [MIM:614496]
VAR_067533 commonName VAR_067533
VAR_067533 disease phenotype-associated
VAR_067533 phenoCommon Pseudohypoaldosteronism type 2E (PHA2E) [MIM:614496]
VAR_067534 commonName VAR_067534
VAR_067534 disease phenotype-associated
VAR_067534 phenoCommon Thrombocythemia type 3 (THCYT3) [MIM:614521]
VAR_067535 commonName VAR_067535
VAR_067535 disease phenotype-associated
VAR_067536 commonName VAR_067536
VAR_067536 disease phenotype-associated
VAR_067536 phenoCommon Mental retardation autosomal recessive type 34 (MRT34) [MIM:614499]
VAR_067539 commonName VAR_067539
VAR_067539 disease phenotype-associated
VAR_067539 phenoCommon Epileptic encephalopathy, early infantile, type 13 (EIEE13) [MIM:614558]
VAR_067540 commonName VAR_067540
VAR_067540 disease not phenotype-associated
VAR_067541 commonName VAR_067541
VAR_067541 disease not phenotype-associated
VAR_067542 commonName VAR_067542
VAR_067542 disease phenotype-associated
VAR_067542 phenoCommon Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]
VAR_067543 commonName VAR_067543
VAR_067543 disease phenotype-associated
VAR_067543 phenoCommon Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
VAR_067544 commonName VAR_067544
VAR_067544 disease phenotype-associated
VAR_067544 phenoCommon Congenital disorder of glycosylation type 1R (CDG1R) [MIM:614507]
VAR_067551 commonName VAR_067551
VAR_067551 disease not phenotype-associated
VAR_067552 commonName VAR_067552
VAR_067552 disease not phenotype-associated
VAR_067553 commonName VAR_067553
VAR_067553 disease not phenotype-associated
VAR_067554 commonName VAR_067554
VAR_067555 commonName VAR_067555
VAR_067556 commonName VAR_067556
VAR_067556 disease phenotype-associated
VAR_067557 commonName VAR_067557
VAR_067557 disease not phenotype-associated
VAR_067558 commonName VAR_067558
VAR_067559 commonName VAR_067559
VAR_067559 disease phenotype-associated
VAR_067559 phenoCommon Thrombocythemia type 2 (THCYT2) [MIM:601977]
VAR_067560 commonName VAR_067560
VAR_067560 disease phenotype-associated
VAR_067560 phenoCommon Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]
VAR_067561 commonName VAR_067561
VAR_067561 disease phenotype-associated
VAR_067561 phenoCommon Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]
VAR_067562 commonName VAR_067562
VAR_067562 disease phenotype-associated
VAR_067562 phenoCommon Spastic paraplegia autosomal dominant type 12 (SPG12) [MIM:604805]
VAR_067563 commonName VAR_067563
VAR_067564 commonName VAR_067564
VAR_067565 commonName VAR_067565
VAR_067566 commonName VAR_067566
VAR_067567 commonName VAR_067567
VAR_067568 commonName VAR_067568
VAR_067568 disease phenotype-associated
VAR_067568 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067569 commonName VAR_067569
VAR_067570 commonName VAR_067570
VAR_067571 commonName VAR_067571
VAR_067571 disease phenotype-associated
VAR_067571 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067572 commonName VAR_067572
VAR_067572 disease phenotype-associated
VAR_067572 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067573 commonName VAR_067573
VAR_067575 commonName VAR_067575
VAR_067576 commonName VAR_067576
VAR_067577 commonName VAR_067577
VAR_067577 disease phenotype-associated
VAR_067578 commonName VAR_067578
VAR_067578 disease phenotype-associated
VAR_067578 phenoCommon Perlman syndrome (PRLMNS) [MIM:267000]
VAR_067579 commonName VAR_067579
VAR_067579 disease phenotype-associated
VAR_067580 commonName VAR_067580
VAR_067580 disease phenotype-associated
VAR_067580 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
VAR_067581 commonName VAR_067581
VAR_067581 disease phenotype-associated
VAR_067581 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
VAR_067582 commonName VAR_067582
VAR_067582 disease phenotype-associated
VAR_067582 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
VAR_067586 commonName VAR_067586
VAR_067586 disease phenotype-associated
VAR_067586 phenoCommon Ventricular septal defect type 3 (VSD3) [MIM:614432]
VAR_067587 commonName VAR_067587
VAR_067587 disease phenotype-associated
VAR_067587 phenoCommon Ventricular septal defect type 3 (VSD3) [MIM:614432]
VAR_067589 commonName VAR_067589
VAR_067589 disease phenotype-associated
VAR_067589 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455]
VAR_067590 commonName VAR_067590
VAR_067590 disease phenotype-associated
VAR_067590 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455]
VAR_067591 commonName VAR_067591
VAR_067591 disease phenotype-associated
VAR_067591 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455]
VAR_067592 commonName VAR_067592
VAR_067592 disease phenotype-associated
VAR_067592 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455]
VAR_067593 commonName VAR_067593
VAR_067593 disease phenotype-associated
VAR_067593 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455]
VAR_067595 commonName VAR_067595
VAR_067595 disease phenotype-associated
VAR_067595 phenoCommon Weaver syndrome type 2 (WVS2) [MIM:614421]
VAR_067597 commonName VAR_067597
VAR_067597 disease phenotype-associated
VAR_067597 phenoCommon Weaver syndrome type 2 (WVS2) [MIM:614421]
VAR_067598 commonName VAR_067598
VAR_067598 disease phenotype-associated
VAR_067598 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_067599 commonName VAR_067599
VAR_067599 disease phenotype-associated
VAR_067599 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_067600 commonName VAR_067600
VAR_067600 disease phenotype-associated
VAR_067600 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438]
VAR_067605 commonName VAR_067605
VAR_067605 disease phenotype-associated
VAR_067605 phenoCommon Ventricular septal defect type 1 (VSD1) [MIM:614429]
VAR_067606 commonName VAR_067606
VAR_067606 disease phenotype-associated
VAR_067606 phenoCommon Ventricular septal defect type 1 (VSD1) [MIM:614429]
VAR_067608 commonName VAR_067608
VAR_067610 commonName VAR_067610
VAR_067610 disease phenotype-associated
VAR_067610 phenoCommon Atrioventricular septal defect type 4 (AVSD4) [MIM:614430]
VAR_067624 commonName VAR_067624
VAR_067624 disease not phenotype-associated
VAR_067625 commonName VAR_067625
VAR_067625 disease not phenotype-associated
VAR_067626 commonName VAR_067626
VAR_067626 disease not phenotype-associated
VAR_067627 commonName VAR_067627
VAR_067627 disease not phenotype-associated
VAR_067628 commonName VAR_067628
VAR_067629 commonName VAR_067629
VAR_067630 commonName VAR_067630
VAR_067630 disease not phenotype-associated
VAR_067632 commonName VAR_067632
VAR_067632 disease phenotype-associated
VAR_067632 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067633 commonName VAR_067633
VAR_067634 commonName VAR_067634
VAR_067635 commonName VAR_067635
VAR_067636 commonName VAR_067636
VAR_067636 disease phenotype-associated
VAR_067636 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067637 commonName VAR_067637
VAR_067637 disease phenotype-associated
VAR_067637 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067638 commonName VAR_067638
VAR_067638 disease phenotype-associated
VAR_067638 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067639 commonName VAR_067639
VAR_067639 disease phenotype-associated
VAR_067639 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067641 commonName VAR_067641
VAR_067641 disease phenotype-associated
VAR_067641 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067642 commonName VAR_067642
VAR_067642 disease phenotype-associated
VAR_067642 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067643 commonName VAR_067643
VAR_067643 disease phenotype-associated
VAR_067643 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067644 commonName VAR_067644
VAR_067644 disease phenotype-associated
VAR_067644 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067645 commonName VAR_067645
VAR_067645 disease phenotype-associated
VAR_067645 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067646 commonName VAR_067646
VAR_067646 disease phenotype-associated
VAR_067646 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067647 commonName VAR_067647
VAR_067648 commonName VAR_067648
VAR_067648 disease phenotype-associated
VAR_067648 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067649 commonName VAR_067649
VAR_067649 disease phenotype-associated
VAR_067649 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067651 commonName VAR_067651
VAR_067651 disease phenotype-associated
VAR_067651 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067652 commonName VAR_067652
VAR_067653 commonName VAR_067653
VAR_067654 commonName VAR_067654
VAR_067654 disease phenotype-associated
VAR_067654 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
VAR_067655 commonName VAR_067655
VAR_067655 disease phenotype-associated
VAR_067655 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_067656 commonName VAR_067656
VAR_067657 commonName VAR_067657
VAR_067657 disease phenotype-associated
VAR_067657 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_067658 commonName VAR_067658
VAR_067658 disease phenotype-associated
VAR_067658 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_067659 commonName VAR_067659
VAR_067659 disease phenotype-associated
VAR_067659 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_067660 commonName VAR_067660
VAR_067660 disease phenotype-associated
VAR_067660 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
VAR_067661 commonName VAR_067661
VAR_067661 disease phenotype-associated
VAR_067661 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]
VAR_067664 commonName VAR_067664
VAR_067664 disease not phenotype-associated
VAR_067665 commonName VAR_067665
VAR_067665 disease not phenotype-associated
VAR_067670 commonName VAR_067670
VAR_067670 disease not phenotype-associated
VAR_067671 commonName VAR_067671
VAR_067671 disease not phenotype-associated
VAR_067672 commonName VAR_067672
VAR_067672 disease not phenotype-associated
VAR_067674 commonName VAR_067674
VAR_067674 disease not phenotype-associated
VAR_067675 commonName VAR_067675
VAR_067675 disease not phenotype-associated
VAR_067676 commonName VAR_067676
VAR_067676 disease not phenotype-associated
VAR_067677 commonName VAR_067677
VAR_067677 disease not phenotype-associated
VAR_067678 commonName VAR_067678
VAR_067678 disease not phenotype-associated
VAR_067679 commonName VAR_067679
VAR_067679 disease not phenotype-associated
VAR_067680 commonName VAR_067680
VAR_067680 disease not phenotype-associated
VAR_067681 commonName VAR_067681
VAR_067681 disease not phenotype-associated
VAR_067682 commonName VAR_067682
VAR_067682 disease not phenotype-associated
VAR_067683 commonName VAR_067683
VAR_067683 disease not phenotype-associated
VAR_067684 commonName VAR_067684
VAR_067684 disease not phenotype-associated
VAR_067685 commonName VAR_067685
VAR_067685 disease not phenotype-associated
VAR_067686 commonName VAR_067686
VAR_067686 disease not phenotype-associated
VAR_067687 commonName VAR_067687
VAR_067687 disease not phenotype-associated
VAR_067689 commonName VAR_067689
VAR_067689 disease not phenotype-associated
VAR_067690 commonName VAR_067690
VAR_067690 disease not phenotype-associated
VAR_067691 commonName VAR_067691
VAR_067691 disease not phenotype-associated
VAR_067692 commonName VAR_067692
VAR_067692 disease not phenotype-associated
VAR_067693 commonName VAR_067693
VAR_067693 disease not phenotype-associated
VAR_067694 commonName VAR_067694
VAR_067694 disease phenotype-associated
VAR_067695 commonName VAR_067695
VAR_067696 commonName VAR_067696
VAR_067696 disease phenotype-associated
VAR_067697 commonName VAR_067697
VAR_067697 disease phenotype-associated
VAR_067697 phenoCommon Emery-Dreifuss muscular dystrophy type 3, autosomal recessive (EDMD3) [MIM:181350]
VAR_067698 commonName VAR_067698
VAR_067698 disease phenotype-associated
VAR_067698 phenoCommon Aniridia (AN) [MIM:106210]
VAR_067699 commonName VAR_067699
VAR_067699 disease phenotype-associated
VAR_067700 commonName VAR_067700
VAR_067700 disease phenotype-associated
VAR_067701 commonName VAR_067701
VAR_067701 disease phenotype-associated
VAR_067702 commonName VAR_067702
VAR_067702 disease not phenotype-associated
VAR_067703 commonName VAR_067703
VAR_067703 disease not phenotype-associated
VAR_067704 commonName VAR_067704
VAR_067704 disease not phenotype-associated
VAR_067705 commonName VAR_067705
VAR_067705 disease not phenotype-associated
VAR_067706 commonName VAR_067706
VAR_067706 disease not phenotype-associated
VAR_067708 commonName VAR_067708
VAR_067708 disease not phenotype-associated
VAR_067709 commonName VAR_067709
VAR_067709 disease not phenotype-associated
VAR_067717 commonName VAR_067717
VAR_067717 disease not phenotype-associated
VAR_067718 commonName VAR_067718
VAR_067718 disease not phenotype-associated
VAR_067719 commonName VAR_067719
VAR_067719 disease not phenotype-associated
VAR_067720 commonName VAR_067720
VAR_067720 disease not phenotype-associated
VAR_067722 commonName VAR_067722
VAR_067722 disease phenotype-associated
VAR_067722 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]
VAR_067723 commonName VAR_067723
VAR_067723 disease phenotype-associated
VAR_067723 phenoCommon Peeling skin syndrome (PSS) [MIM:270300]
VAR_067724 commonName VAR_067724
VAR_067724 disease phenotype-associated
VAR_067724 phenoCommon Diarrhea type 6 (DIAR6) [MIM:614616]
VAR_067725 commonName VAR_067725
VAR_067726 commonName VAR_067726
VAR_067727 commonName VAR_067727
VAR_067728 commonName VAR_067728
VAR_067729 commonName VAR_067729
VAR_067730 commonName VAR_067730
VAR_067731 commonName VAR_067731
VAR_067732 commonName VAR_067732
VAR_067733 commonName VAR_067733
VAR_067734 commonName VAR_067734
VAR_067735 commonName VAR_067735
VAR_067736 commonName VAR_067736
VAR_067737 commonName VAR_067737
VAR_067738 commonName VAR_067738
VAR_067739 commonName VAR_067739
VAR_067740 commonName VAR_067740
VAR_067741 commonName VAR_067741
VAR_067742 commonName VAR_067742
VAR_067743 commonName VAR_067743
VAR_067744 commonName VAR_067744
VAR_067745 commonName VAR_067745
VAR_067746 commonName VAR_067746
VAR_067747 commonName VAR_067747
VAR_067748 commonName VAR_067748
VAR_067749 commonName VAR_067749
VAR_067750 commonName VAR_067750
VAR_067751 commonName VAR_067751
VAR_067752 commonName VAR_067752
VAR_067753 commonName VAR_067753
VAR_067754 commonName VAR_067754
VAR_067755 commonName VAR_067755
VAR_067756 commonName VAR_067756
VAR_067756 disease phenotype-associated
VAR_067756 phenoCommon Familial acne inversa type 1 (ACNINV1) [MIM:142690]
VAR_067757 commonName VAR_067757
VAR_067758 commonName VAR_067758
VAR_067758 disease phenotype-associated
VAR_067758 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067759 commonName VAR_067759
VAR_067759 disease phenotype-associated
VAR_067759 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067760 commonName VAR_067760
VAR_067760 disease phenotype-associated
VAR_067760 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067761 commonName VAR_067761
VAR_067761 disease phenotype-associated
VAR_067761 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
VAR_067762 commonName VAR_067762
VAR_067762 disease phenotype-associated
VAR_067762 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067763 commonName VAR_067763
VAR_067763 disease phenotype-associated
VAR_067763 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067764 commonName VAR_067764
VAR_067764 disease phenotype-associated
VAR_067764 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067765 commonName VAR_067765
VAR_067765 disease phenotype-associated
VAR_067765 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067766 commonName VAR_067766
VAR_067766 disease phenotype-associated
VAR_067766 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067767 commonName VAR_067767
VAR_067767 disease phenotype-associated
VAR_067767 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067768 commonName VAR_067768
VAR_067768 disease phenotype-associated
VAR_067768 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]
VAR_067769 commonName VAR_067769
VAR_067769 disease phenotype-associated
VAR_067769 phenoCommon Deafness autosomal dominant type 4B (DFNA4B) [MIM:614614]
VAR_067770 commonName VAR_067770
VAR_067770 disease phenotype-associated
VAR_067770 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067771 commonName VAR_067771
VAR_067771 disease phenotype-associated
VAR_067771 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067772 commonName VAR_067772
VAR_067772 disease phenotype-associated
VAR_067772 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067773 commonName VAR_067773
VAR_067773 disease phenotype-associated
VAR_067773 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067774 commonName VAR_067774
VAR_067774 disease phenotype-associated
VAR_067774 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067775 commonName VAR_067775
VAR_067775 disease phenotype-associated
VAR_067775 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067776 commonName VAR_067776
VAR_067776 disease phenotype-associated
VAR_067776 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067777 commonName VAR_067777
VAR_067777 disease phenotype-associated
VAR_067777 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067778 commonName VAR_067778
VAR_067778 disease phenotype-associated
VAR_067778 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067779 commonName VAR_067779
VAR_067779 disease not phenotype-associated
VAR_067780 commonName VAR_067780
VAR_067780 disease phenotype-associated
VAR_067780 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067781 commonName VAR_067781
VAR_067781 disease phenotype-associated
VAR_067781 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067782 commonName VAR_067782
VAR_067782 disease phenotype-associated
VAR_067782 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067783 commonName VAR_067783
VAR_067783 disease phenotype-associated
VAR_067783 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067784 commonName VAR_067784
VAR_067784 disease phenotype-associated
VAR_067784 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067785 commonName VAR_067785
VAR_067785 disease phenotype-associated
VAR_067785 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067786 commonName VAR_067786
VAR_067786 disease phenotype-associated
VAR_067786 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067787 commonName VAR_067787
VAR_067787 disease phenotype-associated
VAR_067787 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067788 commonName VAR_067788
VAR_067788 disease phenotype-associated
VAR_067788 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067789 commonName VAR_067789
VAR_067789 disease phenotype-associated
VAR_067789 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067790 commonName VAR_067790
VAR_067790 disease phenotype-associated
VAR_067790 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067792 commonName VAR_067792
VAR_067792 disease phenotype-associated
VAR_067792 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
VAR_067795 commonName VAR_067795
VAR_067795 disease phenotype-associated
VAR_067795 phenoCommon Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
VAR_067796 commonName VAR_067796
VAR_067796 disease not phenotype-associated
VAR_067797 commonName VAR_067797
VAR_067797 disease phenotype-associated
VAR_067797 phenoCommon Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
VAR_067798 commonName VAR_067798
VAR_067798 disease phenotype-associated
VAR_067798 phenoCommon UV-sensitive syndrome type 3 (UVSS3) [MIM:614640]
VAR_067799 commonName VAR_067799
VAR_067799 disease not phenotype-associated
VAR_067800 commonName VAR_067800
VAR_067800 disease not phenotype-associated
VAR_067801 commonName VAR_067801
VAR_067801 disease phenotype-associated
VAR_067801 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
VAR_067802 commonName VAR_067802
VAR_067802 disease phenotype-associated
VAR_067802 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
VAR_067803 commonName VAR_067803
VAR_067803 disease not phenotype-associated
VAR_067804 commonName VAR_067804
VAR_067804 disease phenotype-associated
VAR_067804 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]
VAR_067810 commonName VAR_067810
VAR_067810 disease phenotype-associated
VAR_067810 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]
VAR_067811 commonName VAR_067811
VAR_067811 disease phenotype-associated
VAR_067811 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]
VAR_067812 commonName VAR_067812
VAR_067812 disease phenotype-associated
VAR_067812 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]
VAR_067813 commonName VAR_067813
VAR_067813 disease phenotype-associated
VAR_067813 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]
VAR_067814 commonName VAR_067814
VAR_067814 disease phenotype-associated
VAR_067814 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067815 commonName VAR_067815
VAR_067815 disease phenotype-associated
VAR_067815 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067816 commonName VAR_067816
VAR_067816 disease phenotype-associated
VAR_067816 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067817 commonName VAR_067817
VAR_067817 disease phenotype-associated
VAR_067817 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067818 commonName VAR_067818
VAR_067818 disease phenotype-associated
VAR_067818 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067819 commonName VAR_067819
VAR_067819 disease phenotype-associated
VAR_067819 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]
VAR_067820 commonName VAR_067820
VAR_067820 disease phenotype-associated
VAR_067820 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600]
VAR_067821 commonName VAR_067821
VAR_067821 disease phenotype-associated
VAR_067821 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600]
VAR_067822 commonName VAR_067822
VAR_067822 disease phenotype-associated
VAR_067822 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600]
VAR_067823 commonName VAR_067823
VAR_067823 disease phenotype-associated
VAR_067823 phenoCommon Mental retardation autosomal dominant type 13 (MRD13) [MIM:614563]
VAR_067824 commonName VAR_067824
VAR_067824 disease phenotype-associated
VAR_067824 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_067825 commonName VAR_067825
VAR_067825 disease phenotype-associated
VAR_067825 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_067826 commonName VAR_067826
VAR_067826 disease phenotype-associated
VAR_067826 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
VAR_067827 commonName VAR_067827
VAR_067827 disease phenotype-associated
VAR_067827 phenoCommon Tylosis with esophageal cancer (TOC) [MIM:148500]
VAR_067828 commonName VAR_067828
VAR_067828 disease phenotype-associated
VAR_067828 phenoCommon Tylosis with esophageal cancer (TOC) [MIM:148500]
VAR_067829 commonName VAR_067829
VAR_067829 disease phenotype-associated
VAR_067829 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
VAR_067830 commonName VAR_067830
VAR_067830 disease phenotype-associated
VAR_067830 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
VAR_067831 commonName VAR_067831
VAR_067831 disease phenotype-associated
VAR_067831 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
VAR_067832 commonName VAR_067832
VAR_067832 disease phenotype-associated
VAR_067832 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
VAR_067833 commonName VAR_067833
VAR_067833 disease phenotype-associated
VAR_067833 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511]
VAR_067834 commonName VAR_067834
VAR_067834 disease phenotype-associated
VAR_067834 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511]
VAR_067835 commonName VAR_067835
VAR_067835 disease phenotype-associated
VAR_067835 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511]
VAR_067836 commonName VAR_067836
VAR_067836 disease not phenotype-associated
VAR_067837 commonName VAR_067837
VAR_067837 disease phenotype-associated
VAR_067837 phenoCommon Porencephaly type 2 (POREN2) [MIM:614483]
VAR_067838 commonName VAR_067838
VAR_067838 disease phenotype-associated
VAR_067838 phenoCommon Porencephaly type 2 (POREN2) [MIM:614483]
VAR_067839 commonName VAR_067839
VAR_067839 disease phenotype-associated
VAR_067839 phenoCommon Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM:614462]
VAR_067841 commonName VAR_067841
VAR_067841 disease not phenotype-associated
VAR_067842 commonName VAR_067842
VAR_067842 disease not phenotype-associated
VAR_067843 commonName VAR_067843
VAR_067843 disease phenotype-associated
VAR_067843 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067844 commonName VAR_067844
VAR_067844 disease not phenotype-associated
VAR_067845 commonName VAR_067845
VAR_067845 disease phenotype-associated
VAR_067845 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067846 commonName VAR_067846
VAR_067846 disease phenotype-associated
VAR_067846 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_067846 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067848 commonName VAR_067848
VAR_067848 disease phenotype-associated
VAR_067848 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067849 commonName VAR_067849
VAR_067849 disease phenotype-associated
VAR_067849 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067850 commonName VAR_067850
VAR_067850 disease phenotype-associated
VAR_067850 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_067850 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067851 commonName VAR_067851
VAR_067851 disease phenotype-associated
VAR_067851 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067852 commonName VAR_067852
VAR_067852 disease phenotype-associated
VAR_067852 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067853 commonName VAR_067853
VAR_067853 disease not phenotype-associated
VAR_067854 commonName VAR_067854
VAR_067854 disease phenotype-associated
VAR_067854 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067855 commonName VAR_067855
VAR_067855 disease phenotype-associated
VAR_067855 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067856 commonName VAR_067856
VAR_067856 disease phenotype-associated
VAR_067856 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067857 commonName VAR_067857
VAR_067857 disease not phenotype-associated
VAR_067858 commonName VAR_067858
VAR_067858 disease phenotype-associated
VAR_067858 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067859 commonName VAR_067859
VAR_067859 disease phenotype-associated
VAR_067859 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067860 commonName VAR_067860
VAR_067860 disease phenotype-associated
VAR_067860 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_067861 commonName VAR_067861
VAR_067861 disease phenotype-associated
VAR_067861 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067862 commonName VAR_067862
VAR_067862 disease phenotype-associated
VAR_067862 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067863 commonName VAR_067863
VAR_067863 disease phenotype-associated
VAR_067863 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067864 commonName VAR_067864
VAR_067864 disease phenotype-associated
VAR_067864 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067865 commonName VAR_067865
VAR_067865 disease phenotype-associated
VAR_067865 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067866 commonName VAR_067866
VAR_067866 disease phenotype-associated
VAR_067866 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067867 commonName VAR_067867
VAR_067867 disease not phenotype-associated
VAR_067868 commonName VAR_067868
VAR_067868 disease not phenotype-associated
VAR_067869 commonName VAR_067869
VAR_067869 disease phenotype-associated
VAR_067869 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067870 commonName VAR_067870
VAR_067870 disease not phenotype-associated
VAR_067871 commonName VAR_067871
VAR_067871 disease phenotype-associated
VAR_067871 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067872 commonName VAR_067872
VAR_067872 disease phenotype-associated
VAR_067872 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067873 commonName VAR_067873
VAR_067873 disease phenotype-associated
VAR_067873 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067874 commonName VAR_067874
VAR_067874 disease phenotype-associated
VAR_067874 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067875 commonName VAR_067875
VAR_067875 disease phenotype-associated
VAR_067875 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067876 commonName VAR_067876
VAR_067876 disease phenotype-associated
VAR_067876 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067877 commonName VAR_067877
VAR_067877 disease phenotype-associated
VAR_067877 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067878 commonName VAR_067878
VAR_067878 disease phenotype-associated
VAR_067878 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067879 commonName VAR_067879
VAR_067879 disease phenotype-associated
VAR_067879 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067880 commonName VAR_067880
VAR_067880 disease phenotype-associated
VAR_067880 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067881 commonName VAR_067881
VAR_067881 disease phenotype-associated
VAR_067881 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067882 commonName VAR_067882
VAR_067882 disease phenotype-associated
VAR_067882 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067883 commonName VAR_067883
VAR_067883 disease not phenotype-associated
VAR_067884 commonName VAR_067884
VAR_067884 disease phenotype-associated
VAR_067884 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067885 commonName VAR_067885
VAR_067885 disease phenotype-associated
VAR_067885 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067888 commonName VAR_067888
VAR_067888 disease phenotype-associated
VAR_067888 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067889 commonName VAR_067889
VAR_067889 disease not phenotype-associated
VAR_067890 commonName VAR_067890
VAR_067890 disease phenotype-associated
VAR_067890 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_067890 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067891 commonName VAR_067891
VAR_067891 disease phenotype-associated
VAR_067891 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067892 commonName VAR_067892
VAR_067892 disease phenotype-associated
VAR_067892 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067893 commonName VAR_067893
VAR_067893 disease phenotype-associated
VAR_067893 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067894 commonName VAR_067894
VAR_067894 disease phenotype-associated
VAR_067894 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067895 commonName VAR_067895
VAR_067895 disease phenotype-associated
VAR_067895 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067896 commonName VAR_067896
VAR_067896 disease phenotype-associated
VAR_067896 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067897 commonName VAR_067897
VAR_067897 disease phenotype-associated
VAR_067897 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]
VAR_067898 commonName VAR_067898
VAR_067898 disease phenotype-associated
VAR_067898 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067899 commonName VAR_067899
VAR_067899 disease phenotype-associated
VAR_067899 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067900 commonName VAR_067900
VAR_067900 disease phenotype-associated
VAR_067900 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067901 commonName VAR_067901
VAR_067901 disease phenotype-associated
VAR_067901 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067902 commonName VAR_067902
VAR_067902 disease phenotype-associated
VAR_067902 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067903 commonName VAR_067903
VAR_067903 disease phenotype-associated
VAR_067903 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067904 commonName VAR_067904
VAR_067904 disease phenotype-associated
VAR_067904 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067905 commonName VAR_067905
VAR_067905 disease phenotype-associated
VAR_067905 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067906 commonName VAR_067906
VAR_067906 disease phenotype-associated
VAR_067906 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067907 commonName VAR_067907
VAR_067907 disease phenotype-associated
VAR_067907 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067908 commonName VAR_067908
VAR_067908 disease phenotype-associated
VAR_067908 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067909 commonName VAR_067909
VAR_067909 disease phenotype-associated
VAR_067909 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800]
VAR_067910 commonName VAR_067910
VAR_067910 disease phenotype-associated
VAR_067910 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_067912 commonName VAR_067912
VAR_067912 disease phenotype-associated
VAR_067912 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_067913 commonName VAR_067913
VAR_067913 disease phenotype-associated
VAR_067913 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_067914 commonName VAR_067914
VAR_067914 disease phenotype-associated
VAR_067914 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000]
VAR_067915 commonName VAR_067915
VAR_067915 disease phenotype-associated
VAR_067915 phenoCommon Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]
VAR_067916 commonName VAR_067916
VAR_067916 disease phenotype-associated
VAR_067916 phenoCommon Trigonocephaly type 2 (TRIGNO2) [MIM:614485]
VAR_067917 commonName VAR_067917
VAR_067917 disease phenotype-associated
VAR_067917 phenoCommon Trigonocephaly type 2 (TRIGNO2) [MIM:614485]
VAR_067919 commonName VAR_067919
VAR_067919 disease phenotype-associated
VAR_067919 phenoCommon Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]
VAR_067920 commonName VAR_067920
VAR_067920 disease phenotype-associated
VAR_067920 phenoCommon Olmsted syndrome (OLMS) [MIM:614594]
VAR_067921 commonName VAR_067921
VAR_067921 disease phenotype-associated
VAR_067921 phenoCommon Olmsted syndrome (OLMS) [MIM:614594]
VAR_067922 commonName VAR_067922
VAR_067922 disease phenotype-associated
VAR_067922 phenoCommon Olmsted syndrome (OLMS) [MIM:614594]
VAR_067923 commonName VAR_067923
VAR_067923 disease phenotype-associated
VAR_067923 phenoCommon Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
VAR_067924 commonName VAR_067924
VAR_067924 disease phenotype-associated
VAR_067924 phenoCommon Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
VAR_067925 commonName VAR_067925
VAR_067925 disease phenotype-associated
VAR_067925 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565]
VAR_067926 commonName VAR_067926
VAR_067926 disease phenotype-associated
VAR_067926 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565]
VAR_067927 commonName VAR_067927
VAR_067927 disease phenotype-associated
VAR_067927 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565]
VAR_067928 commonName VAR_067928
HbVar.686 protEffect HBB 7(A3) Glu>Val AND HBB 83(EF6) Lys>Asn
VAR_067928 disease phenotype-associated
VAR_067928 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565]
VAR_067929 commonName VAR_067929
VAR_067929 disease phenotype-associated
VAR_067929 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067930 commonName VAR_067930
VAR_067930 disease phenotype-associated
VAR_067930 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067931 commonName VAR_067931
VAR_067931 disease phenotype-associated
VAR_067931 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067932 commonName VAR_067932
VAR_067932 disease phenotype-associated
VAR_067932 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067933 commonName VAR_067933
VAR_067933 disease phenotype-associated
VAR_067933 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067934 commonName VAR_067934
VAR_067934 disease phenotype-associated
VAR_067934 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067935 commonName VAR_067935
VAR_067935 disease phenotype-associated
VAR_067935 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067936 commonName VAR_067936
VAR_067936 disease phenotype-associated
VAR_067936 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067937 commonName VAR_067937
VAR_067937 disease phenotype-associated
VAR_067937 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067938 commonName VAR_067938
VAR_067938 disease phenotype-associated
VAR_067938 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067939 commonName VAR_067939
VAR_067939 disease phenotype-associated
VAR_067939 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067940 commonName VAR_067940
VAR_067940 disease phenotype-associated
VAR_067940 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067941 commonName VAR_067941
VAR_067941 disease phenotype-associated
VAR_067941 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067942 commonName VAR_067942
VAR_067942 disease phenotype-associated
VAR_067942 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067943 commonName VAR_067943
VAR_067943 disease phenotype-associated
VAR_067943 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067944 commonName VAR_067944
VAR_067944 disease phenotype-associated
VAR_067944 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067945 commonName VAR_067945
VAR_067945 disease phenotype-associated
VAR_067945 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067946 commonName VAR_067946
VAR_067946 disease phenotype-associated
VAR_067946 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067947 commonName VAR_067947
VAR_067947 disease phenotype-associated
VAR_067947 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067948 commonName VAR_067948
VAR_067948 disease phenotype-associated
VAR_067948 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067949 commonName VAR_067949
VAR_067949 disease phenotype-associated
VAR_067949 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067950 commonName VAR_067950
VAR_067950 disease phenotype-associated
VAR_067950 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067951 commonName VAR_067951
VAR_067951 disease phenotype-associated
VAR_067951 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067952 commonName VAR_067952
VAR_067952 disease phenotype-associated
VAR_067952 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067953 commonName VAR_067953
VAR_067953 disease phenotype-associated
VAR_067953 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067954 commonName VAR_067954
VAR_067954 disease phenotype-associated
VAR_067954 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067955 commonName VAR_067955
VAR_067955 disease phenotype-associated
VAR_067955 phenoCommon Factor XI deficiency (FA11D) [MIM:612416]
VAR_067956 commonName VAR_067956
VAR_067956 disease phenotype-associated
VAR_067956 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_067957 commonName VAR_067957
VAR_067957 disease phenotype-associated
VAR_067957 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470]
VAR_067958 commonName VAR_067958
VAR_067958 disease phenotype-associated
VAR_067958 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470]
VAR_067959 commonName VAR_067959
VAR_067959 disease phenotype-associated
VAR_067959 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470]
VAR_067960 commonName VAR_067960
VAR_067960 disease phenotype-associated
VAR_067960 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_067961 commonName VAR_067961
VAR_067961 disease phenotype-associated
VAR_067961 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_067962 commonName VAR_067962
VAR_067962 disease phenotype-associated
VAR_067962 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_067963 commonName VAR_067963
VAR_067963 disease phenotype-associated
VAR_067963 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050]
VAR_067964 commonName VAR_067964
VAR_067964 disease phenotype-associated
VAR_067964 phenoCommon Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]
VAR_067965 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067965 commonName VAR_067965
VAR_067966 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067966 commonName VAR_067966
VAR_067967 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067967 commonName VAR_067967
VAR_067968 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067968 commonName VAR_067968
VAR_067969 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067969 commonName VAR_067969
VAR_067970 comment Patients with gastrointestinal diffuse large cell lymphoma
VAR_067970 commonName VAR_067970
VAR_067971 commonName VAR_067971
VAR_067971 disease phenotype-associated
VAR_067972 commonName VAR_067972
VAR_067972 disease not phenotype-associated
VAR_067973 commonName VAR_067973
VAR_067973 disease phenotype-associated
VAR_067974 commonName VAR_067974
VAR_067974 disease not phenotype-associated
VAR_067977 commonName VAR_067977
VAR_067977 disease phenotype-associated
VAR_067977 phenoCommon Bent bone dysplasia syndrome (BBDS) [MIM:614592]
VAR_067978 commonName VAR_067978
VAR_067978 disease phenotype-associated
VAR_067978 phenoCommon Bent bone dysplasia syndrome (BBDS) [MIM:614592]
VAR_067979 commonName VAR_067979
VAR_067979 disease phenotype-associated
VAR_067979 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067980 commonName VAR_067980
VAR_067980 disease phenotype-associated
VAR_067980 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067981 commonName VAR_067981
VAR_067981 disease phenotype-associated
VAR_067981 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067982 commonName VAR_067982
VAR_067982 disease phenotype-associated
VAR_067982 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067983 commonName VAR_067983
VAR_067983 disease phenotype-associated
VAR_067983 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067984 commonName VAR_067984
VAR_067984 disease phenotype-associated
VAR_067984 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067985 commonName VAR_067985
VAR_067985 disease phenotype-associated
VAR_067985 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067986 commonName VAR_067986
VAR_067986 disease phenotype-associated
VAR_067986 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067987 commonName VAR_067987
VAR_067987 disease phenotype-associated
VAR_067987 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067988 commonName VAR_067988
VAR_067988 disease phenotype-associated
VAR_067988 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]
VAR_067989 commonName VAR_067989
VAR_067989 disease phenotype-associated
VAR_067989 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175]
VAR_067990 commonName VAR_067990
VAR_067990 disease phenotype-associated
VAR_067990 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_067990 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175]
VAR_067991 commonName VAR_067991
VAR_067991 disease phenotype-associated
VAR_067991 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_067993 commonName VAR_067993
VAR_067993 disease phenotype-associated
VAR_067993 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]
VAR_067994 commonName VAR_067994
VAR_067994 disease phenotype-associated
VAR_067994 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067995 commonName VAR_067995
VAR_067995 disease phenotype-associated
VAR_067995 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067996 commonName VAR_067996
VAR_067996 disease phenotype-associated
VAR_067996 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067997 commonName VAR_067997
VAR_067997 disease phenotype-associated
VAR_067997 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067998 commonName VAR_067998
VAR_067998 disease phenotype-associated
VAR_067998 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_067998 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_067999 commonName VAR_067999
VAR_067999 disease phenotype-associated
VAR_067999 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
VAR_068000 commonName VAR_068000
VAR_068000 disease phenotype-associated
VAR_068000 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068001 commonName VAR_068001
VAR_068001 disease phenotype-associated
VAR_068001 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068002 commonName VAR_068002
VAR_068002 disease phenotype-associated
VAR_068002 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_068003 commonName VAR_068003
VAR_068003 disease phenotype-associated
VAR_068003 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068004 commonName VAR_068004
VAR_068004 disease phenotype-associated
VAR_068004 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068005 commonName VAR_068005
VAR_068005 disease phenotype-associated
VAR_068005 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_068006 commonName VAR_068006
VAR_068006 disease phenotype-associated
VAR_068006 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600]
VAR_068007 commonName VAR_068007
VAR_068007 disease phenotype-associated
VAR_068007 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068008 commonName VAR_068008
VAR_068008 disease phenotype-associated
VAR_068008 phenoCommon Phenylketonuria (PKU) [MIM:261600]
VAR_068009 commonName VAR_068009
VAR_068009 disease not phenotype-associated
VAR_068010 commonName VAR_068010
VAR_068010 disease not phenotype-associated
VAR_068011 commonName VAR_068011
VAR_068011 disease not phenotype-associated
VAR_068014 commonName VAR_068014
VAR_068014 disease not phenotype-associated
VAR_068016 commonName VAR_068016
VAR_068016 disease not phenotype-associated
VAR_068017 commonName VAR_068017
VAR_068017 disease phenotype-associated
VAR_068017 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399]
VAR_068018 commonName VAR_068018
VAR_068018 disease not phenotype-associated
VAR_068019 commonName VAR_068019
VAR_068019 disease phenotype-associated
VAR_068019 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399]
VAR_068020 commonName VAR_068020
VAR_068020 disease not phenotype-associated
VAR_068024 commonName VAR_068024
VAR_068024 disease phenotype-associated
VAR_068024 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068025 commonName VAR_068025
VAR_068025 disease phenotype-associated
VAR_068025 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068026 commonName VAR_068026
VAR_068026 disease phenotype-associated
VAR_068026 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068027 commonName VAR_068027
VAR_068027 disease phenotype-associated
VAR_068027 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068028 commonName VAR_068028
VAR_068028 disease phenotype-associated
VAR_068028 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068029 commonName VAR_068029
VAR_068029 disease phenotype-associated
VAR_068029 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068030 commonName VAR_068030
VAR_068030 disease phenotype-associated
VAR_068030 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068031 commonName VAR_068031
VAR_068031 disease phenotype-associated
VAR_068031 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
VAR_068032 commonName VAR_068032
VAR_068032 disease phenotype-associated
VAR_068032 phenoCommon Usher syndrome type 2C (USH2C) [MIM:605472]
VAR_068033 commonName VAR_068033
VAR_068033 disease phenotype-associated
VAR_068033 phenoCommon Usher syndrome type 2C (USH2C) [MIM:605472]
VAR_068034 commonName VAR_068034
VAR_068034 disease phenotype-associated
VAR_068034 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068035 commonName VAR_068035
VAR_068035 disease phenotype-associated
VAR_068035 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068036 commonName VAR_068036
VAR_068036 disease phenotype-associated
VAR_068036 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068037 commonName VAR_068037
VAR_068037 disease phenotype-associated
VAR_068037 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068038 commonName VAR_068038
VAR_068038 disease phenotype-associated
VAR_068038 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068039 commonName VAR_068039
VAR_068039 disease phenotype-associated
VAR_068039 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068040 commonName VAR_068040
VAR_068040 disease phenotype-associated
VAR_068040 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068041 commonName VAR_068041
VAR_068041 disease phenotype-associated
VAR_068041 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068042 commonName VAR_068042
VAR_068042 disease phenotype-associated
VAR_068042 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068043 commonName VAR_068043
VAR_068043 disease not phenotype-associated
VAR_068044 commonName VAR_068044
VAR_068044 disease phenotype-associated
VAR_068044 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068045 commonName VAR_068045
VAR_068045 disease not phenotype-associated
VAR_068046 commonName VAR_068046
VAR_068046 disease phenotype-associated
VAR_068046 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068048 commonName VAR_068048
VAR_068048 disease phenotype-associated
VAR_068048 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068049 commonName VAR_068049
VAR_068049 disease phenotype-associated
VAR_068049 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068050 commonName VAR_068050
VAR_068050 disease phenotype-associated
VAR_068050 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068051 commonName VAR_068051
VAR_068051 disease phenotype-associated
VAR_068051 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068052 commonName VAR_068052
VAR_068052 disease phenotype-associated
VAR_068052 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068053 commonName VAR_068053
VAR_068053 disease phenotype-associated
VAR_068053 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068054 commonName VAR_068054
VAR_068054 disease phenotype-associated
VAR_068054 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068055 commonName VAR_068055
VAR_068055 disease phenotype-associated
VAR_068055 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068056 commonName VAR_068056
VAR_068056 disease phenotype-associated
VAR_068056 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068057 commonName VAR_068057
VAR_068057 disease phenotype-associated
VAR_068057 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068058 commonName VAR_068058
VAR_068058 disease not phenotype-associated
VAR_068059 commonName VAR_068059
VAR_068059 disease phenotype-associated
VAR_068059 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068060 commonName VAR_068060
VAR_068060 disease phenotype-associated
VAR_068060 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068061 commonName VAR_068061
VAR_068061 disease phenotype-associated
VAR_068061 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068063 commonName VAR_068063
VAR_068063 disease phenotype-associated
VAR_068063 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068064 commonName VAR_068064
VAR_068064 disease phenotype-associated
VAR_068064 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068065 commonName VAR_068065
VAR_068065 disease phenotype-associated
VAR_068065 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068066 commonName VAR_068066
VAR_068066 disease phenotype-associated
VAR_068066 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068067 commonName VAR_068067
VAR_068067 disease phenotype-associated
VAR_068067 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068068 commonName VAR_068068
VAR_068068 disease phenotype-associated
VAR_068068 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068069 commonName VAR_068069
VAR_068069 disease phenotype-associated
VAR_068069 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500]
VAR_068070 commonName VAR_068070
VAR_068070 disease phenotype-associated
VAR_068070 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
VAR_068071 commonName VAR_068071
VAR_068071 disease phenotype-associated
VAR_068071 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
VAR_068072 commonName VAR_068072
VAR_068072 disease phenotype-associated
VAR_068072 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
VAR_068073 commonName VAR_068073
VAR_068073 disease phenotype-associated
VAR_068073 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
VAR_068074 commonName VAR_068074
VAR_068075 commonName VAR_068075
VAR_068076 commonName VAR_068076
VAR_068077 commonName VAR_068077
VAR_068078 commonName VAR_068078
VAR_068079 commonName VAR_068079
VAR_068079 disease phenotype-associated
VAR_068080 commonName VAR_068080
VAR_068080 disease phenotype-associated
VAR_068080 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068081 commonName VAR_068081
VAR_068081 disease phenotype-associated
VAR_068081 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068082 commonName VAR_068082
VAR_068082 disease phenotype-associated
VAR_068082 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068083 commonName VAR_068083
VAR_068083 disease phenotype-associated
VAR_068083 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068085 commonName VAR_068085
VAR_068085 disease phenotype-associated
VAR_068085 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068086 commonName VAR_068086
VAR_068086 disease phenotype-associated
VAR_068086 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068089 commonName VAR_068089
VAR_068089 disease phenotype-associated
VAR_068089 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068090 commonName VAR_068090
VAR_068090 disease phenotype-associated
VAR_068090 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068091 commonName VAR_068091
VAR_068091 disease phenotype-associated
VAR_068091 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068092 commonName VAR_068092
VAR_068092 disease phenotype-associated
VAR_068092 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330]
VAR_068093 commonName VAR_068093
VAR_068093 disease not phenotype-associated
VAR_068094 commonName VAR_068094
VAR_068094 disease not phenotype-associated
VAR_068095 commonName VAR_068095
VAR_068095 disease not phenotype-associated
VAR_068096 commonName VAR_068096
VAR_068097 commonName VAR_068097
VAR_068097 disease phenotype-associated
VAR_068098 commonName VAR_068098
VAR_068098 disease phenotype-associated
VAR_068099 commonName VAR_068099
VAR_068100 commonName VAR_068100
VAR_068101 commonName VAR_068101
VAR_068101 disease phenotype-associated
VAR_068101 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643]
VAR_068102 commonName VAR_068102
VAR_068102 disease phenotype-associated
VAR_068102 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643]
VAR_068103 commonName VAR_068103
VAR_068103 disease phenotype-associated
VAR_068103 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643]
VAR_068104 commonName VAR_068104
VAR_068105 commonName VAR_068105
VAR_068106 commonName VAR_068106
VAR_068106 disease not phenotype-associated
VAR_068107 commonName VAR_068107
VAR_068107 disease not phenotype-associated
VAR_068108 commonName VAR_068108
VAR_068109 commonName VAR_068109
VAR_068109 disease not phenotype-associated
VAR_068110 commonName VAR_068110
VAR_068110 disease not phenotype-associated
VAR_068111 commonName VAR_068111
VAR_068111 disease not phenotype-associated
VAR_068112 commonName VAR_068112
VAR_068113 commonName VAR_068113
VAR_068113 disease not phenotype-associated
VAR_068114 commonName VAR_068114
VAR_068115 commonName VAR_068115
VAR_068116 commonName VAR_068116
VAR_068116 disease not phenotype-associated
VAR_068117 commonName VAR_068117
VAR_068117 disease phenotype-associated
VAR_068117 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068118 commonName VAR_068118
VAR_068119 commonName VAR_068119
VAR_068120 commonName VAR_068120
VAR_068121 commonName VAR_068121
VAR_068122 commonName VAR_068122
VAR_068123 commonName VAR_068123
VAR_068124 commonName VAR_068124
VAR_068124 disease phenotype-associated
VAR_068124 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068125 commonName VAR_068125
VAR_068126 commonName VAR_068126
VAR_068127 commonName VAR_068127
VAR_068128 commonName VAR_068128
VAR_068129 commonName VAR_068129
VAR_068129 disease phenotype-associated
VAR_068129 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068130 commonName VAR_068130
VAR_068131 commonName VAR_068131
VAR_068132 commonName VAR_068132
VAR_068133 commonName VAR_068133
VAR_068134 commonName VAR_068134
VAR_068134 disease phenotype-associated
VAR_068134 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068135 commonName VAR_068135
VAR_068135 disease phenotype-associated
VAR_068135 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068136 commonName VAR_068136
VAR_068137 commonName VAR_068137
VAR_068137 disease phenotype-associated
VAR_068137 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068138 commonName VAR_068138
VAR_068139 commonName VAR_068139
VAR_068140 commonName VAR_068140
VAR_068141 commonName VAR_068141
VAR_068141 disease phenotype-associated
VAR_068141 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068142 commonName VAR_068142
VAR_068143 commonName VAR_068143
VAR_068144 commonName VAR_068144
VAR_068144 disease phenotype-associated
VAR_068144 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068145 commonName VAR_068145
VAR_068145 disease phenotype-associated
VAR_068145 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068146 commonName VAR_068146
VAR_068146 disease not phenotype-associated
VAR_068147 commonName VAR_068147
VAR_068147 disease not phenotype-associated
VAR_068148 commonName VAR_068148
VAR_068149 commonName VAR_068149
VAR_068149 disease not phenotype-associated
VAR_068150 commonName VAR_068150
VAR_068150 disease phenotype-associated
VAR_068150 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068151 commonName VAR_068151
VAR_068152 commonName VAR_068152
VAR_068152 disease not phenotype-associated
VAR_068153 commonName VAR_068153
VAR_068153 disease not phenotype-associated
VAR_068154 commonName VAR_068154
VAR_068155 commonName VAR_068155
VAR_068156 commonName VAR_068156
VAR_068157 commonName VAR_068157
VAR_068157 disease not phenotype-associated
VAR_068158 commonName VAR_068158
VAR_068158 disease not phenotype-associated
VAR_068159 commonName VAR_068159
VAR_068160 commonName VAR_068160
VAR_068160 disease not phenotype-associated
VAR_068161 commonName VAR_068161
VAR_068161 disease phenotype-associated
VAR_068161 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426]
VAR_068162 commonName VAR_068162
VAR_068162 disease phenotype-associated
VAR_068162 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426]
VAR_068163 commonName VAR_068163
VAR_068163 disease phenotype-associated
VAR_068163 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426]
VAR_068164 commonName VAR_068164
VAR_068164 disease not phenotype-associated
VAR_068165 commonName VAR_068165
VAR_068165 disease phenotype-associated
VAR_068165 phenoCommon Joubert syndrome type 17 (JBTS17) [MIM:614615]
VAR_068168 commonName VAR_068168
VAR_068168 disease phenotype-associated
VAR_068168 phenoCommon Joubert syndrome type 5 (JBTS5) [MIM:610188]
VAR_068169 commonName VAR_068169
VAR_068169 disease phenotype-associated
VAR_068169 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285]
VAR_068172 commonName VAR_068172
VAR_068172 disease phenotype-associated
VAR_068172 phenoCommon Joubert syndrome (JBTS) [MIM:213300]
VAR_068173 commonName VAR_068173
VAR_068173 disease not phenotype-associated
VAR_068174 commonName VAR_068174
VAR_068174 disease phenotype-associated
VAR_068174 phenoCommon Meconium ileus (MECIL) [MIM:614665]
VAR_068175 commonName VAR_068175
VAR_068175 disease phenotype-associated
VAR_068175 phenoCommon Megalocornea type 1, X-linked (MGC1) [MIM:309300]
VAR_068176 commonName VAR_068176
VAR_068176 disease not phenotype-associated
VAR_068180 commonName VAR_068180
VAR_068180 disease phenotype-associated
VAR_068180 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068181 commonName VAR_068181
VAR_068181 disease phenotype-associated
VAR_068181 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068182 commonName VAR_068182
VAR_068182 disease phenotype-associated
VAR_068182 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068183 commonName VAR_068183
VAR_068183 disease phenotype-associated
VAR_068183 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068184 commonName VAR_068184
VAR_068184 disease phenotype-associated
VAR_068184 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068185 commonName VAR_068185
VAR_068185 disease phenotype-associated
VAR_068185 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068186 commonName VAR_068186
VAR_068186 disease phenotype-associated
VAR_068186 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068187 commonName VAR_068187
VAR_068187 disease phenotype-associated
VAR_068187 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068188 commonName VAR_068188
VAR_068188 disease phenotype-associated
VAR_068188 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068189 commonName VAR_068189
VAR_068189 disease phenotype-associated
VAR_068189 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068190 commonName VAR_068190
VAR_068190 disease phenotype-associated
VAR_068190 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068191 commonName VAR_068191
VAR_068191 disease phenotype-associated
VAR_068191 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068192 commonName VAR_068192
VAR_068192 disease phenotype-associated
VAR_068192 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068193 commonName VAR_068193
VAR_068193 disease phenotype-associated
VAR_068193 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068194 commonName VAR_068194
VAR_068194 disease phenotype-associated
VAR_068194 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068195 commonName VAR_068195
VAR_068195 disease phenotype-associated
VAR_068195 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068196 commonName VAR_068196
VAR_068196 disease phenotype-associated
VAR_068196 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068197 commonName VAR_068197
VAR_068197 disease phenotype-associated
VAR_068197 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068198 commonName VAR_068198
VAR_068198 disease phenotype-associated
VAR_068198 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068199 commonName VAR_068199
VAR_068199 disease phenotype-associated
VAR_068199 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068200 commonName VAR_068200
VAR_068200 disease phenotype-associated
VAR_068200 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068201 commonName VAR_068201
VAR_068201 disease phenotype-associated
VAR_068201 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068202 commonName VAR_068202
VAR_068202 disease phenotype-associated
VAR_068202 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068203 commonName VAR_068203
VAR_068203 disease phenotype-associated
VAR_068203 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068204 commonName VAR_068204
VAR_068204 disease phenotype-associated
VAR_068204 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068205 commonName VAR_068205
VAR_068205 disease phenotype-associated
VAR_068205 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068206 commonName VAR_068206
VAR_068206 disease phenotype-associated
VAR_068206 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068207 commonName VAR_068207
VAR_068207 disease phenotype-associated
VAR_068207 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068208 commonName VAR_068208
VAR_068208 disease phenotype-associated
VAR_068208 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]
VAR_068210 commonName VAR_068210
VAR_068210 disease phenotype-associated
VAR_068210 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]
VAR_068211 commonName VAR_068211
VAR_068211 disease phenotype-associated
VAR_068211 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]
VAR_068212 commonName VAR_068212
VAR_068212 disease phenotype-associated
VAR_068212 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]
VAR_068213 commonName VAR_068213
VAR_068213 disease phenotype-associated
VAR_068213 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]
VAR_068214 commonName VAR_068214
VAR_068214 disease phenotype-associated
VAR_068214 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]
VAR_068215 commonName VAR_068215
VAR_068215 disease phenotype-associated
VAR_068216 commonName VAR_068216
VAR_068216 disease phenotype-associated
VAR_068216 phenoCommon Coenzyme Q10 deficiency, primary, type 6 (COQ10D6) [MIM:614650]
VAR_068217 commonName VAR_068217
VAR_068217 disease not phenotype-associated
VAR_068218 commonName VAR_068218
VAR_068218 disease phenotype-associated
VAR_068218 phenoCommon Coenzyme Q10 deficiency, primary, type 6 (COQ10D6) [MIM:614650]
VAR_068219 commonName VAR_068219
VAR_068219 disease phenotype-associated
VAR_068219 phenoCommon Ataxia, sensory, type 1, autosomal dominant (SNAX1) [MIM:608984]
VAR_068221 commonName VAR_068221
VAR_068221 disease phenotype-associated
VAR_068221 phenoCommon Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]
VAR_068222 commonName VAR_068222
VAR_068222 disease not phenotype-associated
VAR_068223 commonName VAR_068223
VAR_068223 disease not phenotype-associated
VAR_068224 commonName VAR_068224
VAR_068224 disease phenotype-associated
VAR_068224 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723]
VAR_068225 commonName VAR_068225
VAR_068225 disease phenotype-associated
VAR_068225 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723]
VAR_068226 commonName VAR_068226
VAR_068226 disease phenotype-associated
VAR_068226 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723]
VAR_068227 commonName VAR_068227
VAR_068227 disease phenotype-associated
VAR_068227 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723]
VAR_068228 commonName VAR_068228
VAR_068228 disease not phenotype-associated
VAR_068229 commonName VAR_068229
VAR_068230 commonName VAR_068230
VAR_068230 disease not phenotype-associated
VAR_068231 commonName VAR_068231
VAR_068231 disease not phenotype-associated
VAR_068232 commonName VAR_068232
VAR_068232 disease not phenotype-associated
VAR_068233 commonName VAR_068233
VAR_068233 disease not phenotype-associated
VAR_068234 commonName VAR_068234
VAR_068235 commonName VAR_068235
VAR_068235 disease not phenotype-associated
VAR_068236 commonName VAR_068236
VAR_068236 disease not phenotype-associated
VAR_068237 commonName VAR_068237
VAR_068237 disease not phenotype-associated
VAR_068239 commonName VAR_068239
VAR_068239 disease not phenotype-associated
VAR_068240 commonName VAR_068240
VAR_068240 disease phenotype-associated
VAR_068240 phenoCommon Congenital disorder of glycosylation type 2L (CDG2L) [MIM:614576]
VAR_068241 commonName VAR_068241
VAR_068241 disease phenotype-associated
VAR_068241 phenoCommon Acrodysostosis type 1, with or without hormone resistance (ACRDYS1) [MIM:101800]
VAR_068242 commonName VAR_068242
VAR_068242 disease phenotype-associated
VAR_068242 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
VAR_068243 commonName VAR_068243
VAR_068243 disease phenotype-associated
VAR_068243 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
VAR_068244 commonName VAR_068244
VAR_068244 disease phenotype-associated
VAR_068244 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
VAR_068246 commonName VAR_068246
VAR_068246 disease phenotype-associated
VAR_068246 phenoCommon Hyperekplexia type 2 (HKPX2) [MIM:614619]
VAR_068247 commonName VAR_068247
VAR_068248 commonName VAR_068248
VAR_068249 commonName VAR_068249
VAR_068249 disease phenotype-associated
VAR_068249 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068250 commonName VAR_068250
VAR_068250 disease phenotype-associated
VAR_068250 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068251 commonName VAR_068251
VAR_068251 disease phenotype-associated
VAR_068251 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068252 commonName VAR_068252
VAR_068252 disease phenotype-associated
VAR_068252 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068253 commonName VAR_068253
VAR_068253 disease phenotype-associated
VAR_068253 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068254 commonName VAR_068254
VAR_068254 disease phenotype-associated
VAR_068254 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068255 commonName VAR_068255
VAR_068255 disease phenotype-associated
VAR_068255 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068256 commonName VAR_068256
VAR_068256 disease phenotype-associated
VAR_068256 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068257 commonName VAR_068257
VAR_068257 disease phenotype-associated
VAR_068257 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068258 commonName VAR_068258
VAR_068258 disease phenotype-associated
VAR_068258 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068259 commonName VAR_068259
VAR_068259 disease phenotype-associated
VAR_068259 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068260 commonName VAR_068260
VAR_068260 disease phenotype-associated
VAR_068260 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068261 commonName VAR_068261
VAR_068261 disease phenotype-associated
VAR_068261 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068262 commonName VAR_068262
VAR_068262 disease phenotype-associated
VAR_068262 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068264 commonName VAR_068264
VAR_068264 disease phenotype-associated
VAR_068264 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068265 commonName VAR_068265
VAR_068265 disease phenotype-associated
VAR_068265 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068266 commonName VAR_068266
VAR_068266 disease phenotype-associated
VAR_068266 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068267 commonName VAR_068267
VAR_068267 disease phenotype-associated
VAR_068267 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068268 commonName VAR_068268
VAR_068268 disease phenotype-associated
VAR_068268 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068269 commonName VAR_068269
VAR_068269 disease phenotype-associated
VAR_068269 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068270 commonName VAR_068270
VAR_068270 disease phenotype-associated
VAR_068270 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068271 commonName VAR_068271
VAR_068271 disease phenotype-associated
VAR_068271 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068272 commonName VAR_068272
VAR_068272 disease phenotype-associated
VAR_068272 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068273 commonName VAR_068273
VAR_068273 disease phenotype-associated
VAR_068273 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068275 commonName VAR_068275
VAR_068275 disease phenotype-associated
VAR_068275 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068276 commonName VAR_068276
VAR_068276 disease phenotype-associated
VAR_068276 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068277 commonName VAR_068277
VAR_068277 disease phenotype-associated
VAR_068277 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068278 commonName VAR_068278
VAR_068278 disease phenotype-associated
VAR_068278 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068279 commonName VAR_068279
VAR_068279 disease phenotype-associated
VAR_068279 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068280 commonName VAR_068280
VAR_068280 disease phenotype-associated
VAR_068280 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068281 commonName VAR_068281
VAR_068281 disease phenotype-associated
VAR_068281 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688]
VAR_068287 commonName VAR_068287
VAR_068287 disease phenotype-associated
VAR_068287 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068288 commonName VAR_068288
VAR_068288 disease phenotype-associated
VAR_068288 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068289 commonName VAR_068289
VAR_068289 disease phenotype-associated
VAR_068289 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068290 commonName VAR_068290
VAR_068290 disease phenotype-associated
VAR_068290 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068291 commonName VAR_068291
VAR_068291 disease phenotype-associated
VAR_068291 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068292 commonName VAR_068292
VAR_068292 disease phenotype-associated
VAR_068292 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068293 commonName VAR_068293
VAR_068293 disease phenotype-associated
VAR_068293 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068295 commonName VAR_068295
VAR_068295 disease phenotype-associated
VAR_068295 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068296 commonName VAR_068296
VAR_068296 disease phenotype-associated
VAR_068296 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068297 commonName VAR_068297
VAR_068297 disease phenotype-associated
VAR_068297 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068299 commonName VAR_068299
VAR_068299 disease phenotype-associated
VAR_068299 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068300 commonName VAR_068300
VAR_068300 disease phenotype-associated
VAR_068300 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068301 commonName VAR_068301
VAR_068301 disease phenotype-associated
VAR_068301 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068302 commonName VAR_068302
VAR_068302 disease phenotype-associated
VAR_068302 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068303 commonName VAR_068303
VAR_068303 disease phenotype-associated
VAR_068303 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068304 commonName VAR_068304
VAR_068304 disease phenotype-associated
VAR_068304 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068305 commonName VAR_068305
VAR_068305 disease phenotype-associated
VAR_068305 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068306 commonName VAR_068306
VAR_068306 disease phenotype-associated
VAR_068306 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068307 commonName VAR_068307
VAR_068307 disease phenotype-associated
VAR_068307 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068308 commonName VAR_068308
VAR_068308 disease phenotype-associated
VAR_068308 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068309 commonName VAR_068309
VAR_068309 disease phenotype-associated
VAR_068309 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068310 commonName VAR_068310
VAR_068310 disease phenotype-associated
VAR_068310 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068311 commonName VAR_068311
VAR_068311 disease phenotype-associated
VAR_068311 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068312 commonName VAR_068312
VAR_068312 disease phenotype-associated
VAR_068312 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500]
VAR_068325 commonName VAR_068325
VAR_068325 disease phenotype-associated
VAR_068325 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068326 commonName VAR_068326
VAR_068326 disease phenotype-associated
VAR_068326 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068327 commonName VAR_068327
VAR_068327 disease phenotype-associated
VAR_068327 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068328 commonName VAR_068328
VAR_068328 disease phenotype-associated
VAR_068328 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068329 commonName VAR_068329
VAR_068329 disease phenotype-associated
VAR_068329 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068330 commonName VAR_068330
VAR_068330 disease phenotype-associated
VAR_068330 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068331 commonName VAR_068331
VAR_068331 disease phenotype-associated
VAR_068331 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068332 commonName VAR_068332
VAR_068332 disease phenotype-associated
VAR_068332 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068333 commonName VAR_068333
VAR_068333 disease phenotype-associated
VAR_068333 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068334 commonName VAR_068334
VAR_068334 disease phenotype-associated
VAR_068334 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068335 commonName VAR_068335
VAR_068335 disease phenotype-associated
VAR_068335 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068336 commonName VAR_068336
VAR_068336 disease phenotype-associated
VAR_068336 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068337 commonName VAR_068337
VAR_068337 disease phenotype-associated
VAR_068337 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068338 commonName VAR_068338
VAR_068338 disease phenotype-associated
VAR_068338 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068339 commonName VAR_068339
VAR_068339 disease phenotype-associated
VAR_068339 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068340 commonName VAR_068340
VAR_068340 disease phenotype-associated
VAR_068340 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068341 commonName VAR_068341
VAR_068341 disease phenotype-associated
VAR_068341 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068342 commonName VAR_068342
VAR_068342 disease phenotype-associated
VAR_068342 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830]
VAR_068343 commonName VAR_068343
VAR_068343 disease phenotype-associated
VAR_068343 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300]
VAR_068348 commonName VAR_068348
VAR_068348 disease phenotype-associated
VAR_068348 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
VAR_068349 commonName VAR_068349
VAR_068349 disease phenotype-associated
VAR_068349 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
VAR_068351 commonName VAR_068351
VAR_068351 disease phenotype-associated
VAR_068351 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100]
VAR_068353 commonName VAR_068353
VAR_068353 disease phenotype-associated
VAR_068353 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600]
VAR_068354 commonName VAR_068354
VAR_068354 disease phenotype-associated
VAR_068354 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_068355 commonName VAR_068355
VAR_068355 disease phenotype-associated
VAR_068355 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_068356 commonName VAR_068356
VAR_068356 disease phenotype-associated
VAR_068356 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_068357 commonName VAR_068357
VAR_068357 disease phenotype-associated
VAR_068357 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_068358 commonName VAR_068358
VAR_068358 disease phenotype-associated
VAR_068358 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809]
VAR_068359 commonName VAR_068359
VAR_068359 disease phenotype-associated
VAR_068359 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_068360 commonName VAR_068360
VAR_068360 disease phenotype-associated
VAR_068360 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731]
VAR_068361 commonName VAR_068361
VAR_068361 disease phenotype-associated
VAR_068361 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_068362 commonName VAR_068362
VAR_068362 disease phenotype-associated
VAR_068362 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801]
VAR_068363 commonName VAR_068363
VAR_068363 disease phenotype-associated
VAR_068363 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105]
VAR_068364 commonName VAR_068364
VAR_068364 disease phenotype-associated
VAR_068364 phenoCommon Retinitis pigmentosa type 27 (RP27) [MIM:613750]
VAR_068365 commonName VAR_068365
VAR_068365 disease phenotype-associated
VAR_068365 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068366 commonName VAR_068366
VAR_068366 disease phenotype-associated
VAR_068366 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068367 commonName VAR_068367
VAR_068367 disease phenotype-associated
VAR_068367 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068368 commonName VAR_068368
VAR_068368 disease phenotype-associated
VAR_068368 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068369 commonName VAR_068369
VAR_068369 disease phenotype-associated
VAR_068369 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068370 commonName VAR_068370
VAR_068370 disease phenotype-associated
VAR_068370 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068371 commonName VAR_068371
VAR_068371 disease phenotype-associated
VAR_068371 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068372 commonName VAR_068372
VAR_068372 disease phenotype-associated
VAR_068372 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068373 commonName VAR_068373
VAR_068373 disease phenotype-associated
VAR_068373 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150]
VAR_068374 commonName VAR_068374
VAR_068374 disease not phenotype-associated
VAR_068375 commonName VAR_068375
VAR_068376 commonName VAR_068376
VAR_068376 disease not phenotype-associated
VAR_068377 commonName VAR_068377
VAR_068378 commonName VAR_068378
VAR_068378 disease not phenotype-associated
VAR_068379 commonName VAR_068379
VAR_068379 disease not phenotype-associated
VAR_068380 commonName VAR_068380
VAR_068381 commonName VAR_068381
VAR_068381 disease not phenotype-associated
VAR_068382 commonName VAR_068382
VAR_068383 commonName VAR_068383
VAR_068383 disease not phenotype-associated
VAR_068384 commonName VAR_068384
VAR_068384 disease not phenotype-associated
VAR_068385 commonName VAR_068385
VAR_068386 commonName VAR_068386
VAR_068386 disease not phenotype-associated
VAR_068387 commonName VAR_068387
VAR_068387 disease phenotype-associated
VAR_068387 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068388 commonName VAR_068388
VAR_068389 commonName VAR_068389
VAR_068390 commonName VAR_068390
VAR_068390 disease phenotype-associated
VAR_068390 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068391 commonName VAR_068391
VAR_068392 commonName VAR_068392
VAR_068392 disease phenotype-associated
VAR_068392 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068393 commonName VAR_068393
VAR_068393 disease phenotype-associated
VAR_068393 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068394 commonName VAR_068394
VAR_068395 commonName VAR_068395
VAR_068395 disease phenotype-associated
VAR_068395 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068396 commonName VAR_068396
VAR_068397 commonName VAR_068397
VAR_068397 disease phenotype-associated
VAR_068397 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068398 commonName VAR_068398
VAR_068398 disease phenotype-associated
VAR_068398 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068399 commonName VAR_068399
VAR_068399 disease not phenotype-associated
VAR_068400 commonName VAR_068400
VAR_068401 commonName VAR_068401
VAR_068402 commonName VAR_068402
VAR_068402 disease not phenotype-associated
VAR_068403 commonName VAR_068403
VAR_068403 disease phenotype-associated
VAR_068403 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068404 commonName VAR_068404
VAR_068404 disease phenotype-associated
VAR_068404 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068405 commonName VAR_068405
VAR_068405 disease phenotype-associated
VAR_068405 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068406 commonName VAR_068406
VAR_068406 disease not phenotype-associated
VAR_068407 commonName VAR_068407
VAR_068407 disease not phenotype-associated
VAR_068408 commonName VAR_068408
VAR_068409 commonName VAR_068409
VAR_068409 disease phenotype-associated
VAR_068409 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068410 commonName VAR_068410
VAR_068411 commonName VAR_068411
VAR_068411 disease not phenotype-associated
VAR_068412 commonName VAR_068412
VAR_068412 disease not phenotype-associated
VAR_068413 commonName VAR_068413
VAR_068413 disease not phenotype-associated
VAR_068414 commonName VAR_068414
VAR_068415 commonName VAR_068415
VAR_068415 disease phenotype-associated
VAR_068415 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800]
VAR_068416 commonName VAR_068416
VAR_068417 commonName VAR_068417
VAR_068418 commonName VAR_068418
VAR_068418 disease not phenotype-associated
VAR_068419 commonName VAR_068419
VAR_068420 commonName VAR_068420
VAR_068420 disease not phenotype-associated
VAR_068421 commonName VAR_068421
VAR_068421 disease not phenotype-associated
VAR_068422 commonName VAR_068422
VAR_068422 disease not phenotype-associated
VAR_068423 commonName VAR_068423
VAR_068423 disease not phenotype-associated
VAR_068424 commonName VAR_068424
VAR_068424 disease phenotype-associated
VAR_068425 commonName VAR_068425
VAR_068425 disease phenotype-associated
VAR_068425 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482]
VAR_068426 commonName VAR_068426
VAR_068426 disease phenotype-associated
VAR_068426 phenoCommon Seizures, benign familial infantile type 2 (BFIS2) [MIM:605751]
VAR_068427 commonName VAR_068427
VAR_068428 commonName VAR_068428
VAR_068429 commonName VAR_068429
VAR_068429 disease phenotype-associated
VAR_068429 phenoCommon Neural tube defects (NTD) [MIM:182940]
VAR_068434 commonName VAR_068434
VAR_068434 disease phenotype-associated
VAR_068434 phenoCommon Barth syndrome (BTHS) [MIM:302060]
VAR_068446 commonName VAR_068446
VAR_068446 disease phenotype-associated
VAR_068446 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727]
VAR_068447 commonName VAR_068447
VAR_068447 disease phenotype-associated
VAR_068447 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727]
VAR_068448 commonName VAR_068448
VAR_068448 disease phenotype-associated
VAR_068448 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727]
VAR_068449 commonName VAR_068449
VAR_068449 disease phenotype-associated
VAR_068449 phenoCommon Primary ciliary dyskinesia type 17 (CILD17) [MIM:614679]
VAR_068450 commonName VAR_068450
VAR_068450 disease phenotype-associated
VAR_068450 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068451 commonName VAR_068451
VAR_068451 disease phenotype-associated
VAR_068451 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068452 commonName VAR_068452
VAR_068452 disease phenotype-associated
VAR_068452 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068453 commonName VAR_068453
VAR_068453 disease phenotype-associated
VAR_068453 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068454 commonName VAR_068454
VAR_068454 disease phenotype-associated
VAR_068454 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068455 commonName VAR_068455
VAR_068455 disease phenotype-associated
VAR_068455 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068456 commonName VAR_068456
VAR_068456 disease phenotype-associated
VAR_068456 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068457 commonName VAR_068457
VAR_068457 disease phenotype-associated
VAR_068457 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068458 commonName VAR_068458
VAR_068458 disease phenotype-associated
VAR_068458 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068459 commonName VAR_068459
VAR_068459 disease phenotype-associated
VAR_068459 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068460 commonName VAR_068460
VAR_068460 disease phenotype-associated
VAR_068460 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068461 commonName VAR_068461
VAR_068461 disease phenotype-associated
VAR_068461 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068462 commonName VAR_068462
VAR_068462 disease phenotype-associated
VAR_068462 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068463 commonName VAR_068463
VAR_068463 disease phenotype-associated
VAR_068463 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068464 commonName VAR_068464
VAR_068464 disease phenotype-associated
VAR_068464 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068465 commonName VAR_068465
VAR_068465 disease phenotype-associated
VAR_068465 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068466 commonName VAR_068466
VAR_068466 disease phenotype-associated
VAR_068466 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068467 commonName VAR_068467
VAR_068467 disease phenotype-associated
VAR_068467 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068468 commonName VAR_068468
VAR_068468 disease phenotype-associated
VAR_068468 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068470 commonName VAR_068470
VAR_068470 disease phenotype-associated
VAR_068470 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068471 commonName VAR_068471
VAR_068471 disease phenotype-associated
VAR_068471 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068472 commonName VAR_068472
VAR_068472 disease phenotype-associated
VAR_068472 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
VAR_068473 commonName VAR_068473
VAR_068473 disease phenotype-associated
VAR_068473 phenoCommon Currarino syndrome (CURRAS) [MIM:176450]
VAR_068475 commonName VAR_068475
VAR_068475 disease phenotype-associated
VAR_068475 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567]
VAR_068477 commonName VAR_068477
VAR_068479 commonName VAR_068479
VAR_068480 commonName VAR_068480
VAR_068480 disease not phenotype-associated
VAR_068481 commonName VAR_068481
VAR_068481 disease phenotype-associated
VAR_068481 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_068482 commonName VAR_068482
VAR_068482 disease phenotype-associated
VAR_068482 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]
VAR_068483 commonName VAR_068483
VAR_068483 disease phenotype-associated
VAR_068483 phenoCommon Hamamy syndrome (HMMS) [MIM:611174]
VAR_068484 commonName VAR_068484
VAR_068484 disease phenotype-associated
VAR_068484 phenoCommon Hamamy syndrome (HMMS) [MIM:611174]
VAR_068485 commonName VAR_068485
VAR_068485 disease phenotype-associated
VAR_068485 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068486 commonName VAR_068486
VAR_068486 disease phenotype-associated
VAR_068486 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068487 commonName VAR_068487
VAR_068487 disease phenotype-associated
VAR_068487 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068488 commonName VAR_068488
VAR_068488 disease phenotype-associated
VAR_068488 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068489 commonName VAR_068489
VAR_068489 disease phenotype-associated
VAR_068489 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068490 commonName VAR_068490
VAR_068490 disease phenotype-associated
VAR_068490 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068491 commonName VAR_068491
VAR_068491 disease phenotype-associated
VAR_068491 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068492 commonName VAR_068492
VAR_068492 disease phenotype-associated
VAR_068492 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068493 commonName VAR_068493
VAR_068493 disease phenotype-associated
VAR_068493 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068494 commonName VAR_068494
VAR_068494 disease phenotype-associated
VAR_068494 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068495 commonName VAR_068495
VAR_068495 disease phenotype-associated
VAR_068495 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068496 commonName VAR_068496
VAR_068496 disease phenotype-associated
VAR_068496 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068497 commonName VAR_068497
VAR_068497 disease phenotype-associated
VAR_068497 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
VAR_068498 commonName VAR_068498
VAR_068498 disease phenotype-associated
VAR_068498 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
VAR_068499 commonName VAR_068499
VAR_068499 disease phenotype-associated
VAR_068499 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
VAR_068500 commonName VAR_068500
VAR_068500 disease phenotype-associated
VAR_068500 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]
VAR_068501 commonName VAR_068501
VAR_068501 disease phenotype-associated
VAR_068503 commonName VAR_068503
VAR_068503 disease phenotype-associated
VAR_068504 commonName VAR_068504
VAR_068504 disease phenotype-associated
VAR_068505 commonName VAR_068505
VAR_068505 disease phenotype-associated
VAR_068505 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678]
VAR_068506 commonName VAR_068506
VAR_068506 disease phenotype-associated
VAR_068506 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678]
VAR_068507 commonName VAR_068507
VAR_068507 disease phenotype-associated
VAR_068507 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678]
VAR_068508 commonName VAR_068508
VAR_068508 disease phenotype-associated
VAR_068508 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678]
VAR_068509 commonName VAR_068509
VAR_068509 disease phenotype-associated
VAR_068509 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812]
VAR_068510 commonName VAR_068510
VAR_068510 disease phenotype-associated
VAR_068510 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_068511 commonName VAR_068511
VAR_068511 disease phenotype-associated
VAR_068511 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
VAR_068512 commonName VAR_068512
VAR_068512 disease phenotype-associated
VAR_068513 commonName VAR_068513
VAR_068513 disease not phenotype-associated
VAR_068514 commonName VAR_068514
VAR_068514 disease not phenotype-associated
VAR_068515 commonName VAR_068515
VAR_068515 disease phenotype-associated
VAR_068515 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068516 commonName VAR_068516
VAR_068516 disease phenotype-associated
VAR_068516 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068517 commonName VAR_068517
VAR_068517 disease phenotype-associated
VAR_068517 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068518 commonName VAR_068518
VAR_068518 disease phenotype-associated
VAR_068518 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068519 commonName VAR_068519
VAR_068519 disease not phenotype-associated
VAR_068520 commonName VAR_068520
VAR_068520 disease phenotype-associated
VAR_068520 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068521 commonName VAR_068521
VAR_068521 disease phenotype-associated
VAR_068521 phenoCommon Central core disease of muscle (CCD) [MIM:117000]
VAR_068522 commonName VAR_068522
VAR_068522 disease phenotype-associated
VAR_068522 phenoCommon Bone marrow failure, familial (BMFF) [MIM:614675]
VAR_068523 commonName VAR_068523
VAR_068523 disease phenotype-associated
VAR_068523 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068524 commonName VAR_068524
VAR_068524 disease phenotype-associated
VAR_068524 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068525 commonName VAR_068525
VAR_068525 disease phenotype-associated
VAR_068525 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068526 commonName VAR_068526
VAR_068526 disease phenotype-associated
VAR_068526 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068527 commonName VAR_068527
VAR_068527 disease phenotype-associated
VAR_068527 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068528 commonName VAR_068528
VAR_068528 disease phenotype-associated
VAR_068528 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068529 commonName VAR_068529
VAR_068529 disease phenotype-associated
VAR_068529 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920]
VAR_068531 commonName VAR_068531
VAR_068531 disease phenotype-associated
VAR_068531 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068532 commonName VAR_068532
VAR_068532 disease phenotype-associated
VAR_068532 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068533 commonName VAR_068533
VAR_068533 disease phenotype-associated
VAR_068533 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068534 commonName VAR_068534
VAR_068534 disease phenotype-associated
VAR_068534 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068535 commonName VAR_068535
VAR_068535 disease phenotype-associated
VAR_068535 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068536 commonName VAR_068536
VAR_068536 disease phenotype-associated
VAR_068536 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068537 commonName VAR_068537
VAR_068537 disease phenotype-associated
VAR_068537 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068538 commonName VAR_068538
VAR_068538 disease phenotype-associated
VAR_068538 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068539 commonName VAR_068539
VAR_068539 disease phenotype-associated
VAR_068539 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068540 commonName VAR_068540
VAR_068540 disease phenotype-associated
VAR_068540 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068541 commonName VAR_068541
VAR_068541 disease phenotype-associated
VAR_068541 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068542 commonName VAR_068542
VAR_068542 disease phenotype-associated
VAR_068542 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068543 commonName VAR_068543
VAR_068543 disease phenotype-associated
VAR_068543 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068544 commonName VAR_068544
VAR_068544 disease phenotype-associated
VAR_068544 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068545 commonName VAR_068545
VAR_068545 disease phenotype-associated
VAR_068545 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068546 commonName VAR_068546
VAR_068546 disease phenotype-associated
VAR_068546 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068547 commonName VAR_068547
VAR_068547 disease phenotype-associated
VAR_068547 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068548 commonName VAR_068548
VAR_068548 disease phenotype-associated
VAR_068548 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068549 commonName VAR_068549
VAR_068549 disease phenotype-associated
VAR_068549 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068550 commonName VAR_068550
VAR_068550 disease phenotype-associated
VAR_068550 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068551 commonName VAR_068551
VAR_068551 disease phenotype-associated
VAR_068551 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068552 commonName VAR_068552
VAR_068552 disease phenotype-associated
VAR_068552 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068553 commonName VAR_068553
VAR_068553 disease phenotype-associated
VAR_068553 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068554 commonName VAR_068554
VAR_068554 disease phenotype-associated
VAR_068554 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068555 commonName VAR_068555
VAR_068555 disease phenotype-associated
VAR_068555 phenoCommon Galactosemia (GALCT) [MIM:230400]
VAR_068556 commonName VAR_068556
VAR_068556 disease phenotype-associated
VAR_068556 phenoCommon Cardiomyopathy, dilated type 2B (CMD2B) [MIM:614672]
VAR_068557 commonName VAR_068557
VAR_068557 disease not phenotype-associated
VAR_068558 commonName VAR_068558
VAR_068558 disease phenotype-associated
VAR_068558 phenoCommon Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]
VAR_068559 commonName VAR_068559
VAR_068559 disease phenotype-associated
VAR_068559 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]
VAR_068560 commonName VAR_068560
VAR_068560 disease phenotype-associated
VAR_068560 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]
VAR_068561 commonName VAR_068561
VAR_068561 disease phenotype-associated
VAR_068561 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]
VAR_068562 commonName VAR_068562
VAR_068562 disease phenotype-associated
VAR_068562 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]
VAR_068563 commonName VAR_068563
VAR_068563 disease phenotype-associated
VAR_068563 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]
VAR_068564 commonName VAR_068564
VAR_068564 disease phenotype-associated
VAR_068564 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068565 commonName VAR_068565
VAR_068565 disease not phenotype-associated
VAR_068566 commonName VAR_068566
VAR_068566 disease not phenotype-associated
VAR_068567 commonName VAR_068567
VAR_068567 disease phenotype-associated
VAR_068567 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068568 commonName VAR_068568
VAR_068568 disease phenotype-associated
VAR_068568 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068569 commonName VAR_068569
VAR_068569 disease phenotype-associated
VAR_068569 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068570 commonName VAR_068570
VAR_068570 disease phenotype-associated
VAR_068570 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068571 commonName VAR_068571
VAR_068571 disease phenotype-associated
VAR_068571 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068572 commonName VAR_068572
VAR_068572 disease not phenotype-associated
VAR_068573 commonName VAR_068573
VAR_068573 disease not phenotype-associated
VAR_068574 commonName VAR_068574
VAR_068574 disease phenotype-associated
VAR_068574 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068575 commonName VAR_068575
VAR_068575 disease phenotype-associated
VAR_068575 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068576 commonName VAR_068576
VAR_068576 disease phenotype-associated
VAR_068576 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068577 commonName VAR_068577
VAR_068577 disease phenotype-associated
VAR_068577 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068578 commonName VAR_068578
VAR_068578 disease phenotype-associated
VAR_068578 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068579 commonName VAR_068579
VAR_068579 disease phenotype-associated
VAR_068579 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068580 commonName VAR_068580
VAR_068580 disease phenotype-associated
VAR_068580 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068581 commonName VAR_068581
VAR_068581 disease not phenotype-associated
VAR_068582 commonName VAR_068582
VAR_068582 disease phenotype-associated
VAR_068582 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068583 commonName VAR_068583
VAR_068583 disease not phenotype-associated
VAR_068584 commonName VAR_068584
VAR_068584 disease phenotype-associated
VAR_068584 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068585 commonName VAR_068585
VAR_068585 disease phenotype-associated
VAR_068585 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068586 commonName VAR_068586
VAR_068587 commonName VAR_068587
VAR_068587 disease phenotype-associated
VAR_068587 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068588 commonName VAR_068588
VAR_068588 disease phenotype-associated
VAR_068588 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068589 commonName VAR_068589
VAR_068589 disease phenotype-associated
VAR_068589 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068590 commonName VAR_068590
VAR_068590 disease phenotype-associated
VAR_068590 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068591 commonName VAR_068591
VAR_068591 disease phenotype-associated
VAR_068591 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068592 commonName VAR_068592
VAR_068592 disease not phenotype-associated
VAR_068593 commonName VAR_068593
VAR_068594 commonName VAR_068594
VAR_068594 disease phenotype-associated
VAR_068594 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068595 commonName VAR_068595
VAR_068595 disease phenotype-associated
VAR_068595 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068596 commonName VAR_068596
VAR_068596 disease phenotype-associated
VAR_068596 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068597 commonName VAR_068597
VAR_068597 disease not phenotype-associated
VAR_068598 commonName VAR_068598
VAR_068598 disease phenotype-associated
VAR_068598 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068599 commonName VAR_068599
VAR_068599 disease phenotype-associated
VAR_068599 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068600 commonName VAR_068600
VAR_068600 disease phenotype-associated
VAR_068600 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068601 commonName VAR_068601
VAR_068601 disease phenotype-associated
VAR_068601 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068602 commonName VAR_068602
VAR_068602 disease phenotype-associated
VAR_068602 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068603 commonName VAR_068603
VAR_068603 disease phenotype-associated
VAR_068603 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068604 commonName VAR_068604
VAR_068604 disease phenotype-associated
VAR_068604 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068605 commonName VAR_068605
VAR_068605 disease phenotype-associated
VAR_068605 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068606 commonName VAR_068606
VAR_068606 disease phenotype-associated
VAR_068606 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068607 commonName VAR_068607
VAR_068607 disease phenotype-associated
VAR_068607 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068608 commonName VAR_068608
VAR_068608 disease phenotype-associated
VAR_068608 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068609 commonName VAR_068609
VAR_068609 disease phenotype-associated
VAR_068609 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068610 commonName VAR_068610
VAR_068610 disease phenotype-associated
VAR_068610 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068611 commonName VAR_068611
VAR_068611 disease not phenotype-associated
VAR_068612 commonName VAR_068612
VAR_068612 disease phenotype-associated
VAR_068612 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068613 commonName VAR_068613
VAR_068613 disease phenotype-associated
VAR_068613 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068614 commonName VAR_068614
VAR_068614 disease phenotype-associated
VAR_068614 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068615 commonName VAR_068615
VAR_068615 disease phenotype-associated
VAR_068615 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068616 commonName VAR_068616
VAR_068616 disease phenotype-associated
VAR_068616 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068617 commonName VAR_068617
VAR_068618 commonName VAR_068618
VAR_068618 disease phenotype-associated
VAR_068618 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068619 commonName VAR_068619
VAR_068619 disease phenotype-associated
VAR_068619 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068620 commonName VAR_068620
VAR_068620 disease phenotype-associated
VAR_068620 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068621 commonName VAR_068621
VAR_068621 disease not phenotype-associated
VAR_068622 commonName VAR_068622
VAR_068622 disease phenotype-associated
VAR_068622 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068623 commonName VAR_068623
VAR_068623 disease phenotype-associated
VAR_068623 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068624 commonName VAR_068624
VAR_068624 disease phenotype-associated
VAR_068624 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068626 commonName VAR_068626
VAR_068626 disease phenotype-associated
VAR_068626 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068627 commonName VAR_068627
VAR_068627 disease not phenotype-associated
VAR_068628 commonName VAR_068628
VAR_068628 disease not phenotype-associated
VAR_068629 commonName VAR_068629
VAR_068629 disease phenotype-associated
VAR_068629 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068630 commonName VAR_068630
VAR_068630 disease phenotype-associated
VAR_068630 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068631 commonName VAR_068631
VAR_068631 disease phenotype-associated
VAR_068631 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068632 commonName VAR_068632
VAR_068632 disease phenotype-associated
VAR_068632 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068633 commonName VAR_068633
VAR_068633 disease phenotype-associated
VAR_068633 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068634 commonName VAR_068634
VAR_068634 disease phenotype-associated
VAR_068634 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068635 commonName VAR_068635
VAR_068635 disease phenotype-associated
VAR_068635 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300]
VAR_068636 commonName VAR_068636
VAR_068636 disease phenotype-associated
VAR_068636 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068637 commonName VAR_068637
VAR_068637 disease phenotype-associated
VAR_068637 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068638 commonName VAR_068638
VAR_068638 disease phenotype-associated
VAR_068638 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068639 commonName VAR_068639
VAR_068639 disease phenotype-associated
VAR_068639 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068640 commonName VAR_068640
VAR_068640 disease phenotype-associated
VAR_068640 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068641 commonName VAR_068641
VAR_068641 disease phenotype-associated
VAR_068641 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441]
VAR_068646 commonName VAR_068646
VAR_068646 disease phenotype-associated
VAR_068646 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561]
VAR_068647 commonName VAR_068647
VAR_068647 disease phenotype-associated
VAR_068648 commonName VAR_068648
VAR_068649 commonName VAR_068649
VAR_068649 disease phenotype-associated
VAR_068649 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068650 commonName VAR_068650
VAR_068650 disease phenotype-associated
VAR_068650 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068651 commonName VAR_068651
VAR_068651 disease phenotype-associated
VAR_068651 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068652 commonName VAR_068652
VAR_068652 disease phenotype-associated
VAR_068652 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068653 commonName VAR_068653
VAR_068653 disease phenotype-associated
VAR_068653 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068654 commonName VAR_068654
VAR_068654 disease phenotype-associated
VAR_068654 phenoCommon Leigh syndrome (LS) [MIM:256000]
VAR_068655 commonName VAR_068655
VAR_068655 disease phenotype-associated
VAR_068655 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068656 commonName VAR_068656
VAR_068656 disease phenotype-associated
VAR_068656 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068657 commonName VAR_068657
VAR_068657 disease phenotype-associated
VAR_068657 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068658 commonName VAR_068658
VAR_068658 disease phenotype-associated
VAR_068658 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068659 commonName VAR_068659
VAR_068659 disease phenotype-associated
VAR_068659 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068660 commonName VAR_068660
VAR_068660 disease phenotype-associated
VAR_068660 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068661 commonName VAR_068661
VAR_068661 disease not phenotype-associated
VAR_068662 commonName VAR_068662
VAR_068662 disease phenotype-associated
VAR_068662 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068663 commonName VAR_068663
VAR_068663 disease phenotype-associated
VAR_068663 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450]
VAR_068664 commonName VAR_068664
VAR_068664 disease not phenotype-associated
VAR_068665 commonName VAR_068665
VAR_068665 disease phenotype-associated
VAR_068665 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068666 commonName VAR_068666
VAR_068666 disease phenotype-associated
VAR_068666 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068667 commonName VAR_068667
VAR_068667 disease not phenotype-associated
VAR_068668 commonName VAR_068668
VAR_068668 disease phenotype-associated
VAR_068668 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068669 commonName VAR_068669
VAR_068669 disease phenotype-associated
VAR_068669 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068670 commonName VAR_068670
VAR_068670 disease not phenotype-associated
VAR_068671 commonName VAR_068671
VAR_068671 disease phenotype-associated
VAR_068671 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068672 commonName VAR_068672
VAR_068672 disease phenotype-associated
VAR_068672 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068673 commonName VAR_068673
VAR_068673 disease not phenotype-associated
VAR_068674 commonName VAR_068674
VAR_068674 disease phenotype-associated
VAR_068674 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]
VAR_068675 commonName VAR_068675
VAR_068675 disease not phenotype-associated
VAR_068676 commonName VAR_068676
VAR_068676 disease not phenotype-associated
VAR_068677 commonName VAR_068677
VAR_068677 disease not phenotype-associated
VAR_068678 commonName VAR_068678
VAR_068678 disease not phenotype-associated
HbVar.686 commonName Hb S-Providence
HbVar.686 ethnic West African
HbVar.686 phenoCommon Hemoglobin variant
HbVar.687 protEffect HBB 7(A3) Glu>Val AND HBB 122(GH4) Glu>Lys
HbVar.687 commonName Hb S-Oman
HbVar.687 ethnic Oman
HbVar.687 phenoCommon Hemoglobin variant
HbVar.688 protEffect HBB 7(A3) Glu>Val AND HBB 143(H20) Ala>Val
HbVar.688 commonName Hb S-Travis
HbVar.688 ethnic Black
HbVar.688 phenoCommon Hemoglobin variant
HbVar.689 protEffect HBB 7(A3) Glu>Lys AND HBB 38(C3) Trp>Arg
HbVar.689 commonName Hb C-Rothschild
HbVar.689 ethnic Nigerian
HbVar.689 phenoCommon Hemoglobin variant
HbVar.690 protEffect HBB 7(A3) Glu>Lys AND HBB 96(FG2) Lys>Glu
HbVar.690 commonName Hb Arlington Park
HbVar.690 ethnic Black
HbVar.690 phenoCommon Hemoglobin variant
HbVar.691 protEffect HBB 27(B8) Glu>Lys AND HBB 105(G6) Arg>Thr
HbVar.691 commonName Hb Corbeil
HbVar.691 ethnic French
HbVar.691 phenoCommon Hemoglobin variant
HbVar.692 protEffect HBB 27(B8) Glu>Lys AND HBB 122(GH4) Glu>Gln
HbVar.692 commonName Hb T-Cambodia
HbVar.692 ethnic Cambodian
HbVar.692 phenoCommon Hemoglobin variant
HbVar.692 phenoCommon Normal
HbVar.692 phenoCommon mild Anemia
HbVar.692 phenoCommon hemolytic Anemia
HbVar.692 phenoCommon Target cells
HbVar.693 protEffect HBB 52(D2) Pro>Ser AND HBB 53(D3) Asp>Asn
HbVar.693 commonName Hb Grenoble
HbVar.693 ethnic French
HbVar.693 phenoCommon Hemoglobin variant
HbVar.694 protEffect HBB 57(D7) Gly>Arg AND HBB 87(F2) Ala>Pro
HbVar.694 commonName Hb Poissy
HbVar.694 ethnic French
HbVar.694 phenoCommon Hemoglobin variant
HbVar.695 protEffect HBB 76(E19) Leu>Pro AND HBB 142(H19) Leu->0
HbVar.695 commonName Hb Atlanta-Coventry
HbVar.695 phenoCommon Hemoglobin variant
HbVar.696 protEffect HBB 78(EF1) His>Tyr AND HBB 81(EF4) Asn>Ser
HbVar.696 commonName Hb Villeparisis
HbVar.696 ethnic French
HbVar.696 phenoCommon Hemoglobin variant
HbVar.697 protEffect HBB 93(F8) His>Pro AND HBB 105(G6) Arg>Ser
HbVar.697 commonName Hb Duino
HbVar.697 ethnic Italian
HbVar.697 phenoCommon Hemoglobin variant
HbVar.698 protEffect HBB 99(FG5) Val>Met AND HBB 33(B14) Leu>Gln
HbVar.698 commonName Hb Medicine Lake
HbVar.698 alias Codon 32 (T->A) CTG->CAG; codon 98 (G->A) GTG->ATG beta0
HbVar.698 ethnic Caucasian
HbVar.698 phenoCommon beta0 thalassemia
HbVar.699 protEffect HBB 120(GH2) Gly>Asp
HbVar.699 commonName Hb Fannin-Lubbock I
HbVar.699 ethnic Mexican
HbVar.699 ethnic American
HbVar.699 ethnic Spanish
HbVar.699 phenoCommon Hemoglobin variant
HbVar.700 protEffect HBB 115(G16) Leu>Met AND HBB 120(GH2) Gly>Asp
HbVar.700 commonName Hb Masuda
HbVar.700 ethnic Japanese
HbVar.700 phenoCommon Hemoglobin variant
HbVar.701 protEffect HBB 122(GH4) Glu>Gln AND HBB 94(F9) Cys>Arg
HbVar.701 commonName Hb Cleveland
HbVar.701 phenoCommon Hemoglobin variant
HbVar.702 protEffect HBA2 or HBA1 140 (-A); modified C-terminal sequence: (140)Asn-Thr-Val-Lys-Leu-Glu-Pro-(147)Arg-COOH
HbVar.702 commonName Hb Wayne
HbVar.702 ethnic Caucasian
HbVar.702 phenoCommon Hemoglobin variant
HbVar.703 protEffect HBA2 143, Stop>Gln; modified C-terminal sequence: (143)Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.703 commonName Hb Constant Spring (Hb CS)
HbVar.703 alias Codon 142 (TAA->CAA) of the alpha2 gene alpha-Thal-2
HbVar.703 ethnic Arabian
HbVar.703 ethnic Cambodian
HbVar.703 ethnic Chinese
HbVar.703 ethnic Greek
HbVar.703 ethnic Indian
HbVar.703 ethnic Indonesian
HbVar.703 ethnic Laotian
HbVar.703 ethnic Malasian
HbVar.703 ethnic Sicilian
HbVar.703 ethnic Vietnamese
HbVar.703 phenoCommon alpha-2 thalassemia
HbVar.704 protEffect HBA2 143, Stop>Lys; modified C-terminal sequence: (143)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.704 commonName Hb Icaria
HbVar.704 alias Codon 142 (TAA->AAA) of the alpha2 gene alpha-Thal-2
HbVar.704 ethnic Macedonian
HbVar.704 ethnic Greek
HbVar.704 ethnic Balkan
HbVar.704 phenoCommon alpha-2 thalassemia
HbVar.705 protEffect HBA2 143, Stop>Ser; modified C-terminal sequence: (143)Ser-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.705 commonName Hb Koya Dora
HbVar.705 alias Codon 142 (TAA->TCA) of the alpha2 gene alpha-Thal-2
HbVar.705 ethnic Koya Dora
HbVar.705 phenoCommon alpha-2 thalassemia
HbVar.705 phenoCommon mild Anemia
HbVar.705 phenoCommon Microcytosis
HbVar.705 phenoCommon Hypochromia
HbVar.706 protEffect HBA2 143, Stop>Glu; modified C-terminal sequence: (143)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.706 commonName Hb Seal Rock
HbVar.706 alias Codon 142 (TAA->GAA) of the alpha2 gene alpha-Thal-2
HbVar.706 ethnic Black
HbVar.706 phenoCommon alpha-2 thalassemia
HbVar.707 protEffect HBA2 143, Stop>Tyr; modified C-terminal sequence: (143)Tyr-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.707 commonName Hb Pakse
HbVar.707 alias Codon 142 (TAA->TAT) of the alpha2 gene alpha-Thal-2
HbVar.707 ethnic Laotian
HbVar.707 ethnic Thai
HbVar.707 phenoCommon Thalassemia
HbVar.708 protEffect HBB 144 (-A); modified C-terminal sequence: (144)Pro-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH
HbVar.708 commonName Hb Saverne
HbVar.708 ethnic French
HbVar.708 phenoCommon Hemoglobin variant
HbVar.709 protEffect HBB 146(+CT); modified C-terminal sequence: (146)Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH
HbVar.709 commonName Hb Cranston
HbVar.709 ethnic Italian
HbVar.709 ethnic American
HbVar.709 phenoCommon Hemoglobin variant
HbVar.710 protEffect HBB 148(+AC); modified C-terminal sequence: (148)Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH
HbVar.710 commonName Hb Tak
HbVar.710 ethnic Thai
HbVar.710 phenoCommon Hemoglobin variant
HbVar.711 protEffect HBA2 or HBA1 2(NA1) Val>Glu
HbVar.711 commonName Hb Thionville
HbVar.711 phenoCommon Hemoglobin variant
HbVar.712 protEffect HBB 2(NA1) Val>Glu
HbVar.712 commonName Hb Doha
HbVar.712 ethnic Qatari
HbVar.712 phenoCommon Hemoglobin variant
HbVar.713 protEffect HBB 2(NA1) Val>Met
HbVar.713 commonName Hb South Florida
HbVar.713 ethnic Caucasian
HbVar.713 phenoCommon Hemoglobin variant
HbVar.714 protEffect HBB 3(NA2) His>Pro
HbVar.714 commonName Hb Marseille
HbVar.714 alias Hb Long Island-Marseille
HbVar.714 ethnic French
HbVar.714 ethnic American
HbVar.714 ethnic Australian
HbVar.714 ethnic Maltese
HbVar.714 phenoCommon Hemoglobin variant
HbVar.715 protEffect HBA1 or HBA2 7(A4) Asp->0
HbVar.715 commonName Hb Boyle Heights
HbVar.715 ethnic Mexican
HbVar.715 phenoCommon Hemoglobin variant
HbVar.716 protEffect HBA1 39(C3) Thr->0 OR HBA1 40(C4) Thr->0
HbVar.716 commonName Hb Taybe
HbVar.716 alias Codons 38/39 (-ACC); deleted from the alpha1-globin gene alpha-Thal-2
HbVar.716 ethnic Arabian
HbVar.716 phenoCommon alpha-2 thalassemia
HbVar.716 phenoCommon severe Anemia
HbVar.716 phenoCommon chronic Anemia
HbVar.716 phenoCommon hemolytic Anemia
HbVar.717 protEffect HBA1 52(CE9) - 59(E7) Gly-Ser-Ala-Gln-Val-Lys-Gly-His->0 OR HBA1 53(E1) - 60(E8) Ser-Ala-Gln-Val-Lys-Gly-His-Gly->0
HbVar.717 commonName Hb J-Biskra
HbVar.717 ethnic Algerian
HbVar.717 phenoCommon Hemoglobin variant
HbVar.718 protEffect HBA2 75(EF3) Asp->0 OR HBA2 76(EF4) Asp->0
HbVar.718 commonName Hb Watts
HbVar.718 ethnic Mexican
HbVar.718 ethnic American
HbVar.718 phenoCommon Hemoglobin variant
HbVar.719 protEffect HBA2 141(HC2) Tyr-Arg->0
HbVar.719 commonName Hb Natal
HbVar.719 ethnic Asian Indian
HbVar.719 phenoCommon Hemoglobin variant
HbVar.720 protEffect HBB 7(A3) Glu->0 OR HBB 8(A4) Glu->0
HbVar.720 commonName Hb Leiden
HbVar.720 ethnic Netherlands
HbVar.720 ethnic Chinese
HbVar.720 ethnic American
HbVar.720 ethnic South African
HbVar.720 ethnic Mexican
HbVar.720 ethnic Yugoslavian
HbVar.720 phenoCommon Hemoglobin variant
HbVar.721 protEffect HBB 18(A14) - 19(A15) Lys-Val->0
HbVar.721 commonName Hb Lyon
HbVar.721 ethnic French
HbVar.721 ethnic Spanish
HbVar.721 ethnic North African
HbVar.721 phenoCommon Hemoglobin variant
HbVar.722 protEffect HBB 24(B5) Val->0
HbVar.722 commonName Hb Freiburg
HbVar.722 ethnic German
HbVar.722 phenoCommon Hemoglobin variant
HbVar.723 protEffect HBB 25(B6) Gly->0 OR HBB 26(B7) Gly->0
HbVar.723 commonName Hb Higashitochigi (Hb HT)
HbVar.723 ethnic Japanese
HbVar.723 phenoCommon Hemoglobin variant
HbVar.724 protEffect HBB 42(C7) Phe->0 OR HBB 43(CD1) Phe->0
HbVar.724 commonName Hb Bruxelles
HbVar.724 ethnic Belgian
HbVar.724 phenoCommon Hemoglobin variant
HbVar.725 protEffect HBB 43(CD1) - 45(CD3) Phe-Glu-Ser->0 OR HBB 44(CD2) - 46(CD4) Glu-Ser-Phe->0
HbVar.725 commonName Hb Niteroi
HbVar.725 ethnic Brazilian
HbVar.725 phenoCommon Hemoglobin variant
HbVar.726 protEffect HBB 57(D7) - 60(E3) Gly-Asn-Pro-Lys->0
HbVar.726 commonName Hb Tochigi
HbVar.726 ethnic Japanese
HbVar.726 phenoCommon Hemoglobin variant
HbVar.727 protEffect HBB 75(E18) - 76(E19) Gly-Leu->0
HbVar.727 commonName Hb Saint-Antoine
HbVar.727 ethnic Mediterranean
HbVar.727 phenoCommon Hemoglobin variant
HbVar.728 protEffect HBB 76(E19) Leu->0
HbVar.728 commonName Hb Vicksburg
HbVar.728 ethnic Black
HbVar.728 phenoCommon Hemoglobin variant
HbVar.729 protEffect HBB 88(F3) Thr->0
HbVar.729 commonName Hb Tours
HbVar.729 ethnic French
HbVar.729 phenoCommon Hemoglobin variant
HbVar.730 protEffect HBB 92(F7) - 96(FG2) Leu-His-Cys-Asp-Lys->0
HbVar.730 commonName Hb Gun Hill
HbVar.730 ethnic German
HbVar.730 ethnic English
HbVar.730 ethnic Black
HbVar.730 phenoCommon Hemoglobin variant
HbVar.731 protEffect HBB 142(H19) Leu->0
HbVar.731 commonName Hb Coventry
HbVar.731 phenoCommon Hemoglobin variant
HbVar.732 protEffect Glu- inserted between codons 38(C2) and 39(C3) of HBA1 or HBA2
HbVar.732 commonName Hb Catonsville
HbVar.732 phenoCommon Hemoglobin variant
HbVar.733 protEffect His-Leu-Pro-Ala-Glu- inserted between codons 117(GH4) and 118(GH5) of HBA1 or HBA2
HbVar.733 commonName Hb Zaire
HbVar.733 ethnic Zairian
HbVar.733 phenoCommon Hemoglobin variant
HbVar.734 protEffect I- inserted between codons 118(GH5) and 119(H1) of HBA1
HbVar.734 commonName Hb Phnom Penh
HbVar.734 ethnic Cambodian
HbVar.734 phenoCommon Hemoglobin variant
HbVar.735 protEffect Glu-Phe-Thr- inserted between codons 119(H1) and 120(H2) of HBA1 or HBA2
HbVar.735 commonName Hb Grady
HbVar.735 ethnic Black
HbVar.735 phenoCommon Hemoglobin variant
HbVar.736 protEffect Glu-Leu-His-Cys-Asp- inserted between codons 95(FG1) and 96(FG2) of HBB
HbVar.736 commonName Hb Fairfax
HbVar.736 ethnic African-American
HbVar.736 phenoCommon Hemoglobin variant
HbVar.737 protEffect Leu-His-Cys-Asp-Lys- inserted between codons 96(FG2) and 97(FG3) of HBB
HbVar.737 commonName Hb Koriyama
HbVar.737 ethnic Japanese
HbVar.737 phenoCommon Hemoglobin variant
HbVar.738 protEffect HBB 74(E17) - 76(E19) Asp-Gly-Leu->0 AND Ala-Arg-Cys-Gln- inserted between codons 73(E16) and 77(E20) of HBB
HbVar.738 commonName Hb Montreal
HbVar.738 ethnic French Canadian
HbVar.738 phenoCommon Hemoglobin variant
HbVar.739 protEffect HBB 98(FG4) - 99(FG5) His-Val->0 AND inserted Leu
HbVar.739 commonName Hb Galicia
HbVar.739 ethnic Spanish
HbVar.739 phenoCommon Hemoglobin variant
HbVar.740 protEffect HBB 140(H17) Asn>Tyr AND HBB 139(H16) Ala->0
HbVar.740 commonName Hb Nijkerk
HbVar.740 alias Hb Nykerk
HbVar.740 ethnic Dutch
HbVar.740 phenoCommon Hemoglobin variant
HbVar.741 protEffect HBB 142(H19) - 145(HC1) Leu-Ala-His-Lys->0 AND inserted Gln
HbVar.741 commonName Hb Birmingham
HbVar.741 ethnic Black
HbVar.741 phenoCommon Hemoglobin variant
HbVar.742 protEffect delta-beta hybrid (HBD through 23; HBB from 50)
HbVar.742 commonName Hb Lepore-Hollandia
HbVar.742 ethnic Papuan
HbVar.742 phenoCommon Thalassemia
HbVar.743 protEffect delta-beta hybrid (HBD through 51; HBB from 86)
HbVar.743 commonName Hb Lepore-Baltimore
HbVar.743 ethnic Spanish
HbVar.743 ethnic African
HbVar.743 ethnic Yugoslavian
HbVar.743 phenoCommon Thalassemia
HbVar.744 protEffect delta-beta hybrid (HBD through 88; HBB from 116)
HbVar.744 commonName Hb Lepore-Boston-Washington
HbVar.744 ethnic Italian
HbVar.744 ethnic Rumanian
HbVar.744 ethnic Yugoslavian
HbVar.744 ethnic Turkish
HbVar.744 ethnic Cypriot
HbVar.744 ethnic Jamaican
HbVar.744 ethnic Cuban
HbVar.744 ethnic Greek
HbVar.744 ethnic English
HbVar.744 ethnic Australian
HbVar.744 ethnic Mexican
HbVar.744 phenoCommon Thalassemia
HbVar.745 protEffect delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBD through 13; HBB from 22) AND delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBB through 50; HBD from 86)
HbVar.745 commonName Hb Parchman
HbVar.745 ethnic Black
HbVar.745 phenoCommon Hemoglobin variant
HbVar.746 protEffect beta-delta hybrid (HBB through 13; HBD from 22)
HbVar.746 commonName Hb Miyada
HbVar.746 ethnic Japanese
HbVar.746 ethnic Italian
HbVar.746 phenoCommon Hemoglobin variant
HbVar.747 protEffect beta-delta hybrid (HBB through 23; HBD from 116)
HbVar.747 commonName Hb P-Congo
HbVar.747 ethnic Congolese
HbVar.747 phenoCommon Hemoglobin variant
HbVar.749 protEffect HBD 138(H15) Val->0
HbVar.749 commonName Hb Lincoln Park
HbVar.749 ethnic Mexican
HbVar.749 phenoCommon Hemoglobin variant
HbVar.750 protEffect beta-delta hybrid (HBB through 88; HBD from 116)
HbVar.750 commonName Hb P-India
HbVar.750 ethnic Indian
HbVar.750 phenoCommon Hemoglobin variant
HbVar.751 protEffect Agamma-beta hybrid (HBG1 through 81; HBB from 87)
HbVar.751 commonName Hb Kenya
HbVar.751 alias HPFH-7; Kenya
HbVar.751 ethnic African-American
HbVar.751 ethnic Kenyan
HbVar.751 ethnic Ugandan
HbVar.751 phenoCommon Thalassemia
HbVar.752 commonName -92 (C->T) beta+ (mild)
HbVar.752 ethnic Italian
HbVar.752 ethnic Sicilian
HbVar.752 phenoCommon beta+ thalassemia
HbVar.753 protEffect HBA1 120(H2) Pro>Leu
HbVar.753 commonName Hb Diamant
HbVar.753 ethnic French West Indies
HbVar.753 phenoCommon Hemoglobin variant
HbVar.754 commonName -90 (C->T) beta+
HbVar.754 ethnic Portuguese
HbVar.754 phenoCommon beta+ thalassemia
HbVar.755 commonName -88 (C->A) beta+
HbVar.755 ethnic Egyptian
HbVar.755 ethnic Iranian
HbVar.755 ethnic Bahrein
HbVar.755 phenoCommon beta+ thalassemia
HbVar.756 commonName -88 (C->T) beta+
HbVar.756 ethnic Lebanese
HbVar.756 ethnic Pakistani
HbVar.756 ethnic Punjabi
HbVar.756 ethnic Pathan
HbVar.756 ethnic Black
HbVar.756 ethnic Syria
HbVar.756 phenoCommon beta+ thalassemia
HbVar.757 commonName -87 (C->A) beta+
HbVar.757 ethnic Argentine
HbVar.757 ethnic Black
HbVar.757 phenoCommon beta+ thalassemia
HbVar.758 commonName -87 (C->G) beta+
HbVar.758 ethnic Lebanese
HbVar.758 ethnic Jordan
HbVar.758 ethnic Egyptian
HbVar.758 ethnic Italian
HbVar.758 ethnic Sardinian
HbVar.758 ethnic Sicilian
HbVar.758 ethnic Greek
HbVar.758 ethnic Turkish
HbVar.758 ethnic Macedonian
HbVar.758 ethnic Bulgarian
HbVar.758 ethnic Syria
HbVar.758 ethnic Serbian
HbVar.758 ethnic Iranian
HbVar.758 phenoCommon beta+ thalassemia
HbVar.759 commonName -87 (C->T) beta+
HbVar.759 ethnic Italian
HbVar.759 phenoCommon beta+ thalassemia
HbVar.760 commonName -86 (C->A) beta+
HbVar.760 ethnic Italian
HbVar.760 phenoCommon beta+ thalassemia
HbVar.761 commonName -86 (C->G) beta+
HbVar.761 ethnic Thai
HbVar.761 ethnic Lebanese
HbVar.761 phenoCommon beta+ thalassemia
HbVar.762 commonName -32 (C->A) beta+
HbVar.762 ethnic Taiwanese
HbVar.762 phenoCommon beta+ thalassemia
HbVar.763 commonName -31 (A->C) beta+
HbVar.763 ethnic Italian
HbVar.763 phenoCommon beta+ thalassemia
HbVar.764 commonName -31 (A->G) beta+
HbVar.764 ethnic Japanese
HbVar.764 phenoCommon beta+ thalassemia
HbVar.765 commonName -30 (T->A) beta+
HbVar.765 ethnic Lebanese
HbVar.765 ethnic Israel
HbVar.765 ethnic Tunisian
HbVar.765 ethnic Algerian
HbVar.765 ethnic Greek
HbVar.765 ethnic Turkish
HbVar.765 ethnic Macedonian
HbVar.765 ethnic Bulgarian
HbVar.765 ethnic Azerbaijan
HbVar.765 ethnic Syria
HbVar.765 ethnic Iranian
HbVar.765 phenoCommon beta+ thalassemia
HbVar.766 commonName -30 (T->C) beta (0 or + unclear)
HbVar.766 ethnic Chinese
HbVar.766 phenoCommon beta (0 or + unclear) thalassemia
HbVar.767 commonName -29 (A->G) beta+
HbVar.767 ethnic Algerian
HbVar.767 ethnic Malaysian
HbVar.767 ethnic Taiwanese
HbVar.767 ethnic Chinese
HbVar.767 ethnic Black
HbVar.767 phenoCommon beta+ thalassemia
HbVar.768 commonName -28 (A->C) beta+
HbVar.768 ethnic Turkish
HbVar.768 ethnic Azerbaijan
HbVar.768 ethnic Kurdish Jewish
HbVar.768 phenoCommon beta+ thalassemia
HbVar.769 commonName -28 (A->G) beta+
HbVar.769 ethnic Thai
HbVar.769 ethnic Malaysian
HbVar.769 ethnic Taiwanese
HbVar.769 ethnic Chinese
HbVar.769 ethnic Japanese
HbVar.769 phenoCommon beta+ thalassemia
HbVar.770 commonName CAP +1 (A->C) beta+
HbVar.770 ethnic Saudi Arabian
HbVar.770 ethnic Egyptian
HbVar.770 ethnic Pakistani
HbVar.770 ethnic Punjabi
HbVar.770 ethnic Pathan
HbVar.770 ethnic Thai
HbVar.770 ethnic Malaysian
HbVar.770 ethnic Singapore
HbVar.770 ethnic Chinese
HbVar.770 phenoCommon beta+ thalassemia
HbVar.771 commonName 5'UTR; +10 (-T) beta+ (silent)
HbVar.771 ethnic Greek
HbVar.771 phenoCommon beta+ thalassemia
HbVar.772 commonName 5'UTR; +22 (G->A) beta+
HbVar.772 ethnic Bulgarian
HbVar.772 ethnic Azerbaijan
HbVar.772 ethnic Turkish
HbVar.772 phenoCommon beta+ thalassemia
HbVar.773 commonName 5'UTR; +33 (C->G) beta+ (silent)
HbVar.773 ethnic Greek Cypriot
HbVar.773 phenoCommon beta+ thalassemia
HbVar.774 commonName 5'UTR; +43 to +40 (-AAAC) beta+
HbVar.774 ethnic Chinese
HbVar.774 phenoCommon beta+ thalassemia
HbVar.775 protEffect HBB Initiation codon Met>Val
HbVar.775 commonName Initiation codon ATG->GTG beta0
HbVar.775 ethnic Hungarian
HbVar.775 ethnic Singapore
HbVar.775 ethnic Japanese
HbVar.775 phenoCommon beta0 thalassemia
HbVar.776 protEffect HBB Initiation codon Met>Thr
HbVar.776 commonName Initiation codon ATG->ACG beta0
HbVar.776 ethnic Croatian
HbVar.776 ethnic Russian
HbVar.776 ethnic Japanese
HbVar.776 phenoCommon beta0 thalassemia
HbVar.777 protEffect HBB Initiation codon Met>Arg
HbVar.777 commonName Initiation codon ATG->AGG beta0
HbVar.777 ethnic Japanese
HbVar.777 ethnic Korean
HbVar.777 ethnic Northern European
HbVar.777 phenoCommon beta0 thalassemia
HbVar.778 protEffect HBB Initiation codon Met>Ile
HbVar.778 commonName Initiation codon ATG->ATA beta0
HbVar.778 ethnic Japanese
HbVar.778 ethnic Italian
HbVar.778 ethnic Swedish
HbVar.778 phenoCommon beta0 thalassemia
HbVar.779 protEffect HBB Initiation codon Met>Ile
HbVar.779 commonName Initiation codon ATG->ATC beta0
HbVar.779 ethnic Japanese
HbVar.779 phenoCommon beta0 thalassemia
HbVar.780 protEffect HBB Initiation codon Met>Ile
HbVar.780 commonName Initiation codon ATG->ATT beta0
HbVar.780 ethnic Iranian
HbVar.780 phenoCommon beta0 thalassemia
HbVar.781 protEffect HBB 2 (-G); modified C-terminal sequence: (2)Cys-(3)Thr-COOH
HbVar.781 commonName Codon 1 (-G); GTG(Val)->-TG beta0
HbVar.781 ethnic Italian
HbVar.781 ethnic Sardinian
HbVar.781 ethnic Sicilian
HbVar.781 phenoCommon beta0 thalassemia
HbVar.782 protEffect HBB 3(NA2) - 5(A1) His-Leu-Thr->0 AND HBB 3(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (3)Pro-Glu-Val-Lys-Ser-(8)Ala-COOH
HbVar.782 commonName Codons 2/3/4 (-9 bp; +31 bp); beta0
HbVar.782 ethnic Algerian
HbVar.782 phenoCommon beta0 thalassemia
HbVar.783 protEffect HBB 6 (-CT); modified C-terminal sequence: (6)Arg-Gly-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val- Gly-Gln-Gly-Glu-Arg-(21)Gly-COOH
HbVar.783 commonName Codon 5 (-CT); CCT(Pro)->C-- beta0
HbVar.783 ethnic Lebanese
HbVar.783 ethnic Jordan
HbVar.783 ethnic Israel
HbVar.783 ethnic United Arab Emirates
HbVar.783 ethnic Oman
HbVar.783 ethnic Egyptian
HbVar.783 ethnic Tunisian
HbVar.783 ethnic Italian
HbVar.783 ethnic Sicilian
HbVar.783 ethnic Greek
HbVar.783 ethnic Turkish
HbVar.783 ethnic Macedonian
HbVar.783 ethnic Bulgarian
HbVar.783 ethnic English
HbVar.783 ethnic Iranian
HbVar.783 ethnic Pakistani
HbVar.783 ethnic Punjabi
HbVar.783 ethnic Maharashtran
HbVar.783 ethnic Pathan
HbVar.783 ethnic Syria
HbVar.783 ethnic Albania
HbVar.783 phenoCommon beta0 thalassemia
HbVar.784 protEffect HBB 7 (-A); modified C-terminal sequence: (7)Gly-Arg-Ser-Leu-Pro-Leu-Leu-Pro-Cys-Gly- Ala-(18)Arg-COOH
HbVar.784 commonName Codon 6 (-A); GAG(Glu)->G-G beta0
HbVar.784 ethnic Jordan
HbVar.784 ethnic Saudi Arabian
HbVar.784 ethnic Egyptian
HbVar.784 ethnic Tunisian
HbVar.784 ethnic Algerian
HbVar.784 ethnic Italian
HbVar.784 ethnic Sardinian
HbVar.784 ethnic Sicilian
HbVar.784 ethnic Greek
HbVar.784 ethnic Greek Cypriot
HbVar.784 ethnic Turkish
HbVar.784 ethnic Macedonian
HbVar.784 ethnic Bulgarian
HbVar.784 ethnic Portuguese
HbVar.784 ethnic Spanish
HbVar.784 ethnic Black
HbVar.784 ethnic Argentine
HbVar.784 phenoCommon beta0 thalassemia
HbVar.785 protEffect HBB 9 (-AA); modified C-terminal sequence: (9)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly- Glu-Arg-(21)Gly-COOH
HbVar.785 commonName Codon 8 (-AA); AAG(Lys)->--G beta0
HbVar.785 ethnic Lebanese
HbVar.785 ethnic Israel
HbVar.785 ethnic Kuwaiti
HbVar.785 ethnic United Arab Emirates
HbVar.785 ethnic Egyptian
HbVar.785 ethnic Tunisian
HbVar.785 ethnic Italian
HbVar.785 ethnic Sicilian
HbVar.785 ethnic Greek
HbVar.785 ethnic Greek Cypriot
HbVar.785 ethnic Turkish
HbVar.785 ethnic Macedonian
HbVar.785 ethnic Croatian
HbVar.785 ethnic Bulgarian
HbVar.785 ethnic Azerbaijan
HbVar.785 ethnic Russian
HbVar.785 ethnic Spanish
HbVar.785 ethnic Syria
HbVar.785 phenoCommon beta0 thalassemia
HbVar.786 protEffect HBB 10(+G); modified C-terminal sequence: (10)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.786 commonName Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0
HbVar.786 ethnic Lebanese
HbVar.786 ethnic Saudi Arabian
HbVar.786 ethnic Kuwaiti
HbVar.786 ethnic United Arab Emirates
HbVar.786 ethnic Egyptian
HbVar.786 ethnic Greek
HbVar.786 ethnic Turkish
HbVar.786 ethnic Bulgarian
HbVar.786 ethnic Azerbaijan
HbVar.786 ethnic Spanish
HbVar.786 ethnic Iranian
HbVar.786 ethnic Pakistani
HbVar.786 ethnic Punjabi
HbVar.786 ethnic Bangladesh
HbVar.786 ethnic Pathan
HbVar.786 ethnic Thai
HbVar.786 ethnic Singapore
HbVar.786 ethnic Japanese
HbVar.786 ethnic Syria
HbVar.786 ethnic Bahrein
HbVar.786 phenoCommon beta0 thalassemia
HbVar.787 protEffect HBB 11(+T); modified C-terminal sequence: (11)Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.787 commonName Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0
HbVar.787 ethnic Greek
HbVar.787 phenoCommon beta0 thalassemia
HbVar.788 protEffect HBB 11(A7) Ala>Ala
HbVar.788 commonName Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+
HbVar.788 ethnic Indian
HbVar.788 phenoCommon beta+ thalassemia
HbVar.789 protEffect HBB 12 (-T); modified C-terminal sequence: (12)Val-Leu-Pro-Cys-Gly-Ala-(18)Arg-COOH
HbVar.789 commonName Codon 11 (-T); GTT(Val)->GT- beta0
HbVar.789 ethnic Spanish
HbVar.789 ethnic Mexican
HbVar.789 phenoCommon beta0 thalassemia
HbVar.790 protEffect HBB 16(+G); modified C-terminal sequence: (16)Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.790 commonName Codons 14/15 (+G); CTG TGG(Leu;Trp)->CTG G TGG beta0
HbVar.790 ethnic Thai
HbVar.790 ethnic Chinese
HbVar.790 phenoCommon beta0 thalassemia
HbVar.791 protEffect HBB 16(A12) Trp>Stop
HbVar.791 commonName Codon 15 (G->A); TGG(Trp)->TAG(stop codon) beta0
HbVar.791 ethnic Israel
HbVar.791 ethnic United Arab Emirates
HbVar.791 ethnic Oman
HbVar.791 ethnic Turkish
HbVar.791 ethnic Pakistani
HbVar.791 ethnic Punjabi
HbVar.791 ethnic Maharashtran
HbVar.791 ethnic Bangladesh
HbVar.791 ethnic Pathan
HbVar.791 ethnic Thai
HbVar.791 ethnic Indonesian
HbVar.791 ethnic Japanese
HbVar.791 ethnic Syria
HbVar.791 ethnic Bahrein
HbVar.791 phenoCommon beta0 thalassemia
HbVar.792 protEffect HBB 105(G6) Arg>Trp
HbVar.792 commonName Hb Sainte Eugenie
HbVar.792 ethnic French
HbVar.792 phenoCommon Hemoglobin variant
HbVar.793 protEffect HBB 16(A12) Trp>Stop
HbVar.793 commonName Codon 15 (G->A); TGG(Trp)->TGA(stop codon) beta0
HbVar.793 ethnic Portuguese
HbVar.793 ethnic Russian
HbVar.793 ethnic Japanese
HbVar.793 phenoCommon beta0 thalassemia
HbVar.793 phenoCommon severe Anemia
HbVar.794 protEffect HBB 119(GH1) Phe>Cys
HbVar.794 commonName Hb Harrow
HbVar.794 ethnic Indian
HbVar.794 phenoCommon Hemoglobin variant
HbVar.795 protEffect HBB 37(C2) Pro>Ala
HbVar.795 commonName Hb Brie Comte Robert
HbVar.795 ethnic French
HbVar.795 phenoCommon Hemoglobin variant
HbVar.796 protEffect HBA1 56(E4) Val>Leu
HbVar.796 commonName Hb Roubaix
HbVar.796 alias Hb Poland
HbVar.796 ethnic French Caucasian
HbVar.796 ethnic Polish
HbVar.796 phenoCommon Hemoglobin variant
HbVar.797 protEffect HBB 122(GH 5) Phe>Leu
HbVar.797 commonName Hb Bushey
HbVar.797 ethnic Chinese
HbVar.797 phenoCommon Hemoglobin variant
HbVar.798 protEffect HBB 16 (-T); modified C-terminal sequence: (16)Gly-Ala-(18)Arg-COOH
HbVar.798 commonName Codon 15 (-T); TGG(Trp)->-GG beta0
HbVar.798 ethnic Malay
HbVar.798 phenoCommon beta0 thalassemia
HbVar.799 protEffect HBB 17 (-C); modified C-terminal sequence: (17)Gly-(18)Arg-COOH
HbVar.799 commonName Codon 16 (-C); GGC(Gly)->GG- beta0
HbVar.799 ethnic Azerbaijan
HbVar.799 ethnic Pakistani
HbVar.799 ethnic Punjabi
HbVar.799 ethnic Pathan
HbVar.799 ethnic Singapore
HbVar.799 phenoCommon beta0 thalassemia
HbVar.800 protEffect HBB 18(A14) Lys>Stop
HbVar.800 commonName Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0
HbVar.800 ethnic Thai
HbVar.800 ethnic Malaysian
HbVar.800 ethnic Singapore
HbVar.800 ethnic Indonesian
HbVar.800 ethnic Taiwanese
HbVar.800 ethnic Chinese
HbVar.800 ethnic Japanese
HbVar.800 ethnic Korean
HbVar.800 phenoCommon beta0 thalassemia
HbVar.802 protEffect HBB 23(B4) Glu>Stop
HbVar.802 commonName Codon 22 (G->T); GAA(Glu)->TAA(stop codon) beta0
HbVar.802 ethnic Reunion Island
HbVar.802 phenoCommon beta0 thalassemia
HbVar.803 protEffect HBB 22 - 25 (-AAGTTGG); modified C-terminal sequence
HbVar.803 commonName Codons 22/23/24 (GAA GTT GGT; Glu Val Gly); deletion of -AAGTTGG beta0
HbVar.803 ethnic Turk
HbVar.803 phenoCommon beta0 thalassemia
HbVar.804 protEffect HBB 25 (-G); modified C-terminal sequence AND His- inserted between codons 24(B5) and 25(B6) of HBB
HbVar.804 commonName Codon 24; GGT(Gly); (-G; +CAC) beta0
HbVar.804 ethnic Egyptian
HbVar.804 phenoCommon beta0 thalassemia
HbVar.805 protEffect HBB 25(B6) Gly>Gly
HbVar.805 commonName Codon 24 (T->A); GGT(Gly)->GGA(Gly) beta+
HbVar.805 ethnic Japanese
HbVar.805 ethnic Black
HbVar.805 phenoCommon beta+ thalassemia
HbVar.806 protEffect HBB 26(B7) Gly->0
HbVar.806 commonName Codons 24/25 (-GGT); GGT GGT(Gly-Gly)->---GGT(Gly); beta0
HbVar.806 ethnic Japanese
HbVar.806 phenoCommon beta0 thalassemia
HbVar.807 protEffect HBB 27(+T); modified C-terminal sequence: (27)stop codon
HbVar.807 commonName Codons 25/26 (+T); GGT GAG(Gly-Glu)->GGT T GAG(Gly-Term) beta0
HbVar.807 ethnic Tunisian
HbVar.807 phenoCommon beta0 thalassemia
HbVar.808 protEffect HBB 27(B8) Glu>Stop
HbVar.808 commonName Codon 26 (G->T); GAG(Glu)->TAG(stop codon) beta0
HbVar.808 ethnic Thai
HbVar.808 phenoCommon beta0 thalassemia
HbVar.809 protEffect HBB 27(+T); modified C-terminal sequence: (27)Val-Gly-Pro-Gly-Gln-Ala-Ala-Gly-Gly-Leu-
Pro-Leu-Asp-Pro-Glu-Val-Leu-(43)COOH
HbVar.809 commonName Codon 26 (+T); GAG(Glu)->GTAG beta0
HbVar.809 ethnic Japanese
HbVar.809 phenoCommon beta0 thalassemia
HbVar.810 protEffect HBB 29(+C); modified C-terminal sequence
HbVar.810 commonName Codons 27/28 (+C); GCC CTG(Ala Ser)->GCC C CTG beta0
HbVar.810 ethnic Thai
HbVar.810 ethnic Singapore
HbVar.810 ethnic Taiwanese
HbVar.810 ethnic Chinese
HbVar.810 phenoCommon beta0 thalassemia
HbVar.811 protEffect HBB 29 (-C); modified C-terminal sequence
HbVar.811 commonName Codon 28 (-C); CTG(Leu)->-TG beta0
HbVar.811 ethnic Egyptian
HbVar.811 phenoCommon beta0 thalassemia
HbVar.812 protEffect HBB 122(GH 5) Phe>Leu AND HBB 66(E9) Lys>Met
HbVar.812 commonName Hb Casablanca
HbVar.812 ethnic Moroccan
HbVar.812 phenoCommon Hemoglobin variant
HbVar.813 protEffect HBB 30 (-G); modified C-terminal sequence
HbVar.813 commonName Codons 28/29 (-G); CTG GGC(Leu Gly)->CTG -GC beta0
HbVar.813 ethnic Japanese
HbVar.813 ethnic Egyptian
HbVar.813 phenoCommon beta0 thalassemia
HbVar.814 protEffect HBB 30(B11) Gly>Gly
HbVar.814 commonName IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly) beta+
HbVar.814 ethnic Lebanese
HbVar.814 phenoCommon beta+ thalassemia
HbVar.815 protEffect HBB 31(B12) Arg>Gly
HbVar.815 commonName IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT Probably beta0
HbVar.815 ethnic Sephardic Jewish
HbVar.815 phenoCommon beta0 thalassemia
HbVar.816 protEffect HBB 31(B12) Arg>Lys
HbVar.816 commonName IVS-I (-1) or codon 30 (G->A) AG^GTTGGT->AA^GTTGGT beta0
HbVar.816 ethnic Oman
HbVar.816 ethnic Tunisian
HbVar.816 ethnic Algerian
HbVar.816 ethnic Pakistani
HbVar.816 ethnic Pathan
HbVar.816 ethnic Bulgarian
HbVar.816 phenoCommon beta0 thalassemia
HbVar.817 commonName IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT beta0
HbVar.817 ethnic Lebanese
HbVar.817 ethnic Jordan
HbVar.817 ethnic Israel
HbVar.817 ethnic Kuwaiti
HbVar.817 ethnic Oman
HbVar.817 ethnic Egyptian
HbVar.817 ethnic Tunisian
HbVar.817 ethnic Algerian
HbVar.817 ethnic Italian
HbVar.817 ethnic Sardinian
HbVar.817 ethnic Sicilian
HbVar.817 ethnic Greek
HbVar.817 ethnic Greek Cypriot
HbVar.817 ethnic Turkish
HbVar.817 ethnic Macedonian
HbVar.817 ethnic Croatian
HbVar.817 ethnic Bulgarian
HbVar.817 ethnic Hungarian
HbVar.817 ethnic Czechoslovakian
HbVar.817 ethnic Azerbaijan
HbVar.817 ethnic Russian
HbVar.817 ethnic English
HbVar.817 ethnic French
HbVar.817 ethnic Portuguese
HbVar.817 ethnic Spanish
HbVar.817 ethnic Iranian
HbVar.817 ethnic Pakistani
HbVar.817 ethnic Maharashtran
HbVar.817 ethnic Thai
HbVar.817 ethnic Indonesian
HbVar.817 ethnic Syria
HbVar.817 ethnic Bahrein
HbVar.817 ethnic Turkish Cypriots
HbVar.817 ethnic Albania
HbVar.817 ethnic Serbian
HbVar.817 phenoCommon beta0 thalassemia
HbVar.818 commonName IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0
HbVar.818 ethnic Pakistani
HbVar.818 ethnic Punjabi
HbVar.818 ethnic Maharashtran
HbVar.818 ethnic Pathan
HbVar.818 ethnic Thai
HbVar.818 ethnic Malaysian
HbVar.818 ethnic Singapore
HbVar.818 ethnic Indonesian
HbVar.818 ethnic Taiwanese
HbVar.818 ethnic Chinese
HbVar.818 ethnic Japanese
HbVar.818 ethnic Argentine
HbVar.818 phenoCommon beta0 thalassemia
HbVar.819 commonName IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT beta0
HbVar.819 ethnic Tunisian
HbVar.819 ethnic Algerian
HbVar.819 ethnic Italian
HbVar.819 ethnic Sicilian
HbVar.819 phenoCommon beta0 thalassemia
HbVar.820 commonName IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0
HbVar.820 ethnic Algerian
HbVar.820 ethnic Russian
HbVar.820 ethnic Black
HbVar.820 phenoCommon beta0 thalassemia
HbVar.821 commonName IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT beta0
HbVar.821 ethnic Tunisian
HbVar.821 phenoCommon beta0 thalassemia
HbVar.822 commonName IVS-I-5 (G->A) beta+ (severe)
HbVar.822 ethnic Tunisian
HbVar.822 ethnic Algerian
HbVar.822 ethnic Italian
HbVar.822 ethnic Greek
HbVar.822 ethnic Turkish
HbVar.822 ethnic Spanish
HbVar.822 phenoCommon beta+ thalassemia
HbVar.823 commonName IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+
HbVar.823 ethnic Greek
HbVar.823 phenoCommon beta+ thalassemia
HbVar.824 commonName IVS-I-5 (G->C) beta+ (severe)
HbVar.824 ethnic Lebanese
HbVar.824 ethnic Jordan
HbVar.824 ethnic Israel
HbVar.824 ethnic Saudi Arabian
HbVar.824 ethnic Kuwaiti
HbVar.824 ethnic United Arab Emirates
HbVar.824 ethnic Oman
HbVar.824 ethnic Algerian
HbVar.824 ethnic Italian
HbVar.824 ethnic Sicilian
HbVar.824 ethnic Turkish
HbVar.824 ethnic Azerbaijan
HbVar.824 ethnic Iranian
HbVar.824 ethnic Pakistani
HbVar.824 ethnic Punjabi
HbVar.824 ethnic Maharashtran
HbVar.824 ethnic Bangladesh
HbVar.824 ethnic Pathan
HbVar.824 ethnic Thai
HbVar.824 ethnic Malaysian
HbVar.824 ethnic Singapore
HbVar.824 ethnic Indonesian
HbVar.824 ethnic Chinese
HbVar.824 ethnic Bahrein
HbVar.824 ethnic Albania
HbVar.824 phenoCommon beta+ thalassemia
HbVar.825 commonName IVS-I-5 (G->T) beta+ (severe)
HbVar.825 ethnic Turkish
HbVar.825 ethnic Azerbaijan
HbVar.825 ethnic Black
HbVar.825 ethnic Mediterranean
HbVar.825 ethnic Northern European
HbVar.825 phenoCommon beta+ thalassemia
HbVar.826 commonName IVS-I-6 (T->C); the Portuguese type beta+
HbVar.826 ethnic Lebanese
HbVar.826 ethnic Jordan
HbVar.826 ethnic Israel
HbVar.826 ethnic Kuwaiti
HbVar.826 ethnic United Arab Emirates
HbVar.826 ethnic Egyptian
HbVar.826 ethnic Tunisian
HbVar.826 ethnic Algerian
HbVar.826 ethnic Italian
HbVar.826 ethnic Sardinian
HbVar.826 ethnic Sicilian
HbVar.826 ethnic Greek
HbVar.826 ethnic Greek Cypriot
HbVar.826 ethnic Turkish
HbVar.826 ethnic Macedonian
HbVar.826 ethnic Croatian
HbVar.826 ethnic Bulgarian
HbVar.826 ethnic Hungarian
HbVar.826 ethnic Azerbaijan
HbVar.826 ethnic Russian
HbVar.826 ethnic English
HbVar.826 ethnic French
HbVar.826 ethnic Portuguese
HbVar.826 ethnic Spanish
HbVar.826 ethnic Iranian
HbVar.826 ethnic Argentine
HbVar.826 ethnic Syria
HbVar.826 ethnic Turkish Cypriots
HbVar.826 ethnic Albania
HbVar.826 ethnic Serbian
HbVar.826 phenoCommon beta+ thalassemia
HbVar.827 commonName IVS-I-110 (G->A) beta+; the mutation is 21 nucleotides 5' to the acceptor splice site AG^GC
HbVar.827 ethnic Lebanese
HbVar.827 ethnic Jordan
HbVar.827 ethnic Israel
HbVar.827 ethnic Saudi Arabian
HbVar.827 ethnic United Arab Emirates
HbVar.827 ethnic Oman
HbVar.827 ethnic Egyptian
HbVar.827 ethnic Tunisian
HbVar.827 ethnic Algerian
HbVar.827 ethnic Italian
HbVar.827 ethnic Sardinian
HbVar.827 ethnic Sicilian
HbVar.827 ethnic Greek
HbVar.827 ethnic Greek Cypriot
HbVar.827 ethnic Turkish
HbVar.827 ethnic Macedonian
HbVar.827 ethnic Croatian
HbVar.827 ethnic Bulgarian
HbVar.827 ethnic Czechoslovakian
HbVar.827 ethnic Azerbaijan
HbVar.827 ethnic Russian
HbVar.827 ethnic English
HbVar.827 ethnic French
HbVar.827 ethnic Portuguese
HbVar.827 ethnic Spanish
HbVar.827 ethnic Iranian
HbVar.827 ethnic Yemenite
HbVar.827 ethnic Argentine
HbVar.827 ethnic Syria
HbVar.827 ethnic Bahrein
HbVar.827 ethnic Turkish Cypriots
HbVar.827 ethnic Albania
HbVar.827 ethnic Serbian
HbVar.827 phenoCommon beta+ thalassemia
HbVar.828 commonName IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0%
HbVar.828 ethnic Italian
HbVar.828 ethnic Sicilian
HbVar.828 ethnic Turkish
HbVar.828 ethnic Syria
HbVar.828 phenoCommon beta0 thalassemia
HbVar.829 commonName IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+
HbVar.829 ethnic Azerbaijan
HbVar.829 ethnic Punjabi
HbVar.829 ethnic Taiwanese
HbVar.829 ethnic Chinese
HbVar.829 ethnic Saudi Arabian
HbVar.829 phenoCommon beta+ thalassemia
HbVar.830 commonName IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0
HbVar.830 ethnic Korean
HbVar.830 ethnic Egyptian
HbVar.830 ethnic Turk
HbVar.830 phenoCommon beta0 thalassemia
HbVar.831 commonName IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0
HbVar.831 ethnic Italian
HbVar.831 ethnic Sicilian
HbVar.831 ethnic Turkish
HbVar.831 ethnic Russian
HbVar.831 ethnic Portuguese
HbVar.831 ethnic Japanese
HbVar.831 ethnic Korean
HbVar.831 phenoCommon beta0 thalassemia
HbVar.832 protEffect HBA2 27(B7) Ala>Val
HbVar.832 commonName Hb Campinas
HbVar.832 ethnic Brazilian
HbVar.832 phenoCommon Hemoglobin variant
HbVar.833 protEffect HBB 31(B12) Arg>Ser
HbVar.833 commonName Codon 30 (AGG->AGC) [IVS-I-130 (+1)] beta0
HbVar.833 ethnic Lebanese
HbVar.833 ethnic United Arab Emirates
HbVar.833 ethnic Italian
HbVar.833 ethnic Sicilian
HbVar.833 ethnic Bulgarian
HbVar.833 ethnic Azerbaijan
HbVar.833 ethnic Iranian
HbVar.833 ethnic Pakistani
HbVar.833 ethnic Punjabi
HbVar.833 ethnic Maharashtran
HbVar.833 ethnic Pathan
HbVar.833 ethnic Indonesian
HbVar.833 ethnic Black
HbVar.833 phenoCommon beta0 thalassemia
HbVar.834 commonName IVS-I, 3' end; -17 bp beta0
HbVar.834 ethnic Kuwaiti
HbVar.834 phenoCommon beta0 thalassemia
HbVar.835 protEffect HBB 32 (-C); modified C-terminal sequence: (32)Cys-Trp-Trp-Ser-Thr-Leu-Gly-Pro-Arg-Gly- Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.835 commonName Codon 31 (-C); CTG->-TG beta0
HbVar.835 ethnic Chinese
HbVar.835 phenoCommon beta0 thalassemia
HbVar.836 protEffect Arg- inserted between codons 31(B12) and 32(B13) of HBB
HbVar.836 commonName Codons 31/32 (+CGG) beta0 (dominant beta0-thal)
HbVar.836 ethnic Spanish
HbVar.836 phenoCommon beta0 thalassemia
HbVar.837 protEffect HBB 34(B15) Val->0
HbVar.837 commonName Codons 33/34 (-GTG); GTG GTC(Val*Val)->GTC - - -(Val) beta0
HbVar.837 ethnic Korean
HbVar.837 phenoCommon beta0 thalassemia
HbVar.838 protEffect HBB 36(C1) Tyr>Stop
HbVar.838 commonName Codon 35 (C->A); TAC->TAA (Tyr->Term codon) beta0
HbVar.838 ethnic Thai
HbVar.838 ethnic Japanese
HbVar.838 phenoCommon beta0 thalassemia
HbVar.839 protEffect HBB 36 (-C); modified C-terminal sequence: (36)Tyr-Leu-Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro- Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.839 commonName Codon 35 (-C); TAC(Tyr)->TA- beta0
HbVar.839 ethnic Italian
HbVar.839 ethnic Singapore
HbVar.839 ethnic Indonesian
HbVar.839 ethnic Bahrein
HbVar.839 ethnic Malay
HbVar.839 phenoCommon beta0 thalassemia
HbVar.840 protEffect HBB 38 (-T); modified C-terminal sequence: (38)Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly- Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala- Thr-Leu-(60)Arg-COOH
HbVar.840 commonName Codons 36/37 (-T); CCT TGG(Pro-Trp)->CCT -GG beta0
HbVar.840 ethnic United Arab Emirates
HbVar.840 ethnic Oman
HbVar.840 ethnic Bulgarian
HbVar.840 ethnic Azerbaijan
HbVar.840 ethnic Iranian
HbVar.840 phenoCommon beta0 thalassemia
HbVar.841 protEffect HBB 38(C3) Trp>Stop
HbVar.841 commonName Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0
HbVar.841 ethnic Jordan
HbVar.841 ethnic Israel
HbVar.841 ethnic United Arab Emirates
HbVar.841 ethnic Egyptian
HbVar.841 ethnic Croatian
HbVar.841 ethnic Syria
HbVar.841 ethnic Albania
HbVar.841 phenoCommon beta0 thalassemia
HbVar.842 commonName Codons 37/38/39 (-7 nts) beta0
HbVar.842 ethnic Turk
HbVar.842 phenoCommon beta0 thalassemia
HbVar.843 protEffect HBB 40 (-C); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys- Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu- (60)Arg-COOH
HbVar.843 commonName Codons 38/39 (-C); ACC CAG(Thr Gln)->ACC -AG beta0
HbVar.843 ethnic Czechoslovakian
HbVar.843 phenoCommon beta0 thalassemia
HbVar.844 protEffect HBB 39 (-CC); modified C-terminal sequence: (39)Thr-Glu-Val-(42)Leu-COOH
HbVar.844 commonName Codons 38/39 (-CC); ACC CAG(Thr-Glu)->A- - CAG beta0
HbVar.844 ethnic Belgian
HbVar.844 phenoCommon beta0 thalassemia
HbVar.845 protEffect HBB 40(C5) Gln>Stop
HbVar.845 commonName Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0
HbVar.845 ethnic Lebanese
HbVar.845 ethnic Jordan
HbVar.845 ethnic Israel
HbVar.845 ethnic Saudi Arabian
HbVar.845 ethnic Kuwaiti
HbVar.845 ethnic United Arab Emirates
HbVar.845 ethnic Oman
HbVar.845 ethnic Egyptian
HbVar.845 ethnic Tunisian
HbVar.845 ethnic Algerian
HbVar.845 ethnic Italian
HbVar.845 ethnic Sardinian
HbVar.845 ethnic Sicilian
HbVar.845 ethnic Greek
HbVar.845 ethnic Greek Cypriot
HbVar.845 ethnic Turkish
HbVar.845 ethnic Macedonian
HbVar.845 ethnic Croatian
HbVar.845 ethnic Bulgarian
HbVar.845 ethnic Hungarian
HbVar.845 ethnic Czechoslovakian
HbVar.845 ethnic Azerbaijan
HbVar.845 ethnic English
HbVar.845 ethnic French
HbVar.845 ethnic Portuguese
HbVar.845 ethnic Spanish
HbVar.845 ethnic Iranian
HbVar.845 ethnic Pakistani
HbVar.845 ethnic Pathan
HbVar.845 ethnic Japanese
HbVar.845 ethnic Argentine
HbVar.845 ethnic Syria
HbVar.845 ethnic Bahrein
HbVar.845 ethnic Turkish Cypriots
HbVar.845 ethnic Albania
HbVar.845 ethnic Serbian
HbVar.845 phenoCommon beta0 thalassemia
HbVar.846 protEffect HBB 41 (-G); modified C-terminal sequence: (41)Ser-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro- Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.846 commonName Codon 40 (-G); AGG(Arg)->AG- beta0
HbVar.846 ethnic Japanese
HbVar.846 phenoCommon beta0 thalassemia
HbVar.847 protEffect HBB 42(+T); modified C-terminal sequence: (42)Phe-(43)Leu-COOH
HbVar.847 commonName Codons 40/41 (+T); AGG TTC(Arg-Phe)->AGG T TTC beta0
HbVar.847 ethnic Chinese
HbVar.847 phenoCommon beta0 thalassemia
HbVar.848 protEffect HBB 42 (-C); modified C-terminal sequence: (42)Phe-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.848 commonName Codon 41 (-C); TTC(Phe)->TT- beta0
HbVar.848 ethnic Thai
HbVar.848 phenoCommon beta0 thalassemia
HbVar.849 protEffect HBB 41 - 43 (-TTCT); modified C-terminal sequence
HbVar.849 commonName Codons 41/42 (-TTCT); TTCTTT(Phe-Phe)->- - - -TT beta0
HbVar.849 ethnic English
HbVar.849 ethnic Pakistani
HbVar.849 ethnic Punjabi
HbVar.849 ethnic Thai
HbVar.849 ethnic Malaysian
HbVar.849 ethnic Singapore
HbVar.849 ethnic Indonesian
HbVar.849 ethnic Taiwanese
HbVar.849 ethnic Chinese
HbVar.849 ethnic Japanese
HbVar.849 ethnic Korean
HbVar.849 phenoCommon beta0 thalassemia
HbVar.850 protEffect HBB 44(+G); modified C-terminal sequence: (44)Gly-Val-Leu-Trp-Gly-Ser-Val- His-(52)Ser-COOH
HbVar.850 commonName Codons 42/43 (+G); TTT GAG(Phe Glu)->TTT G GAG beta0
HbVar.850 ethnic Japanese
HbVar.850 phenoCommon beta0 thalassemia
HbVar.851 protEffect HBB 44(+T); modified C-terminal sequence: (44)stop codon
HbVar.851 commonName Codons 42/43 (+T) TTT GAG(Phe Glu)->TTT TGA G(Phe;stop codon) beta0
HbVar.851 ethnic Japanese
HbVar.851 phenoCommon beta0 thalassemia
HbVar.852 protEffect HBG2 20(B1) Asn>Lys
HbVar.852 commonName Hb F-Ouled Rabah
HbVar.852 ethnic Algerian
HbVar.852 ethnic Moroccan
HbVar.852 phenoCommon Hemoglobin variant
HbVar.853 protEffect HBB 44(CD2) Glu>Stop
HbVar.853 commonName Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0
HbVar.853 ethnic Thai
HbVar.853 ethnic Singapore
HbVar.853 ethnic Chinese
HbVar.853 phenoCommon beta0 thalassemia
HbVar.854 protEffect HBB 45 (-C); modified C-terminal sequence: (45)Ser-Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu- Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.854 commonName Codon 44 (-C); TCC(Ser)->TC- beta0
HbVar.854 ethnic Lebanese
HbVar.854 ethnic Kuwaiti
HbVar.854 ethnic United Arab Emirates
HbVar.854 ethnic Oman
HbVar.854 ethnic Tunisian
HbVar.854 ethnic Italian
HbVar.854 ethnic Bulgarian
HbVar.854 ethnic Azerbaijan
HbVar.854 ethnic Iranian
HbVar.854 ethnic Bahrein
HbVar.854 ethnic Albania
HbVar.854 phenoCommon beta0 thalassemia
HbVar.855 protEffect HBB 46 (-T); modified C-terminal sequence: (46)Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.855 commonName Codon 45 (-T); TTT(Phe)->-TT beta0
HbVar.855 ethnic Pakistani
HbVar.855 phenoCommon beta0 thalassemia
HbVar.856 protEffect HBB 48(+A); modified C-terminal sequence: (48)Glu-Ser-Val- His-(52)Ser-COOH
HbVar.856 commonName Codon 47 (+A); GAT(Asp)->GAA(Glu) T beta0
HbVar.856 ethnic Surinam
HbVar.856 phenoCommon beta0 thalassemia
HbVar.857 protEffect HBB 49(+ATCT); modified C-terminal sequence: (49)Leu-Ser-Val-His-(53)Ser-COOH
HbVar.857 commonName Codons 47/48 (+ATCT); GAT CTG(Asp Leu)->GAT CTATCTG beta0
HbVar.857 ethnic Pakistani
HbVar.857 ethnic Punjabi
HbVar.857 ethnic Maharashtran
HbVar.857 ethnic Sikh
HbVar.857 phenoCommon beta0 thalassemia
HbVar.858 protEffect HBB 52 (-C); modified C-terminal sequence: (52)Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.858 commonName Codon 51 (-C); CCT(Pro)->-CT beta0
HbVar.858 ethnic Hungarian
HbVar.858 phenoCommon beta0 thalassemia
HbVar.860 protEffect HBB 55(+G); modified C-terminal sequence: (55)Gly-Tyr-Gly-Gln-(59)Pro-COOH
HbVar.860 commonName 53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0
HbVar.860 ethnic Japanese
HbVar.860 phenoCommon beta0 thalassemia
HbVar.861 protEffect HBB 55 (-T); modified C-terminal sequence: (55)Val-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.861 commonName Codon 54 (-T); GTT(Val)->GT- beta0
HbVar.861 ethnic Algerian
HbVar.861 ethnic Swedish
HbVar.861 phenoCommon beta0 thalassemia
HbVar.862 protEffect HBB 56(+A); modified C-terminal sequence: (56)Asn-Gly-Gln-(59)Pro-COOH
HbVar.862 commonName Codons 54/55 (+A); GTT ATG(Val Met)->GTT A ATG beta0
HbVar.862 ethnic Maharashtran
HbVar.862 phenoCommon beta0 thalassemia
HbVar.863 commonName Codons 56/57/58/59/60 (GGC AAC CCT AAG GTG); duplication of 14 bp beta0
HbVar.863 phenoCommon beta0 thalassemia
HbVar.864 protEffect HBB 59(+C); modified C-terminal sequence: (59)Pro-COOH
HbVar.864 commonName Codons 57/58 (+C); AAC CCT(Asn Pro)->AAC C CCT beta0
HbVar.864 ethnic Sikh
HbVar.864 phenoCommon beta0 thalassemia
HbVar.865 protEffect HBB 60 (-A); modified C-terminal sequence: (60)Arg-COOH
HbVar.865 commonName Codon 59 (-A); AAG(Lys)->-AG beta0
HbVar.865 ethnic Italian
HbVar.865 phenoCommon beta0 thalassemia
HbVar.866 protEffect HBB 62(E5) Lys>Stop
HbVar.866 commonName Codon 61 (A->T); AAG(Lys)->TAG(stop codon) beta0
HbVar.866 ethnic Black
HbVar.866 phenoCommon beta0 thalassemia
HbVar.867 protEffect HBB 65 (-G); modified C-terminal sequence: (65)Ala-Arg-Lys-Cys-Ser-Val-Pro-Leu-Val-Met- Ala-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH
HbVar.867 commonName Codon 64 (-G); GGC(Gly)->-GC beta0
HbVar.867 ethnic Swiss
HbVar.867 phenoCommon beta0 thalassemia
HbVar.868 protEffect HBB 68 (-GT); modified C-terminal sequence: (68)Ala-Arg-Cys-(71)Leu-COOH
HbVar.868 commonName Codon 67 (-TG); GTG(Val)->--G beta0
HbVar.868 ethnic Filipino
HbVar.868 phenoCommon beta0 thalassemia
HbVar.869 protEffect HBB 73(+A); modified C-terminal sequence: (73)Lys-COOH
HbVar.869 commonName Codons 71/72 (+A); TTT AGT(Phe Ser)->TTT A AGT; beta0
HbVar.869 ethnic Chinese
HbVar.869 ethnic East Asian
HbVar.869 phenoCommon beta0 thalassemia
HbVar.870 protEffect HBB 73(+T); modified C-terminal sequence: (73)stop codon
HbVar.870 commonName Codons 71/72 (+T); TTT AGT(Phe Ser)->TTT T AGT beta0
HbVar.870 ethnic Thai
HbVar.870 ethnic Malaysian
HbVar.870 ethnic Taiwanese
HbVar.870 ethnic Chinese
HbVar.870 phenoCommon beta0 thalassemia
HbVar.871 protEffect HBB 72 - 74 (-AGTGA); modified C-terminal sequence AND HBB 73(+T); modified C-terminal sequence
HbVar.871 commonName Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0
HbVar.871 ethnic British
HbVar.871 phenoCommon beta0 thalassemia
HbVar.872 protEffect HBG2 18(A14) Lys>Asn
HbVar.872 commonName Hb F-Clamart
HbVar.872 ethnic French
HbVar.872 phenoCommon Hemoglobin variant
HbVar.873 protEffect HBB 75 (-C); modified C-terminal sequence: (75)Gly-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH
HbVar.873 commonName Codons 74/75 (-C); GGC CTG(Gly Leu)->GG- CTG beta0
HbVar.873 ethnic Turk
HbVar.873 phenoCommon beta0 thalassemia
HbVar.873 phenoCommon severe Anemia
HbVar.874 protEffect HBB 77 (-C); modified C-terminal sequence: (77)Val-Thr-Trp-Thr-Thr-Ser-Arg-Ala-Pro-Leu- Pro-(88)His-COOH
HbVar.874 commonName Codon 76 (-C); GCT(Ala)->G-T beta0
HbVar.874 ethnic Italian
HbVar.874 ethnic Sardinian
HbVar.874 ethnic Sicilian
HbVar.874 phenoCommon beta0 thalassemia
HbVar.875 protEffect HBB 84 (-G); modified C-terminal sequence: (84)Ala-Pro-Leu-Pro-(88)His-COOH
HbVar.875 commonName Codons 82/83 (-G); AAG GGC(Lys Gly)->AAG -GC beta0
HbVar.875 ethnic United Arab Emirates
HbVar.875 ethnic Croatian
HbVar.875 ethnic Czechoslovakian
HbVar.875 ethnic Azerbaijan
HbVar.875 phenoCommon beta0 thalassemia
HbVar.876 protEffect HBB 86(+C); modified C-terminal sequence: (86)Leu-Cys-His-Thr-(90)Glu-COOH
HbVar.876 commonName Codons 84/85 (+C); ACC TTT(Thr Phe)->ACC C TTT beta0
HbVar.876 ethnic Japanese
HbVar.876 phenoCommon beta0 thalassemia
HbVar.877 protEffect HBB 87(+T); modified C-terminal sequence: (87)Cys-His-Thr-(90)Glu-COOH
HbVar.877 commonName Codons 84/85/86 (+T); ACC TTT GCC(Thr Phe Ala)->ACC TTT T GCC beta0
HbVar.877 ethnic Japanese
HbVar.877 phenoCommon beta0 thalassemia
HbVar.878 protEffect HBB 89(+T); modified C-terminal sequence: (89)Leu-(90)Glu-COOH
HbVar.878 commonName Codon 88 (+T); CTG(Leu)->CTTG beta0
HbVar.878 ethnic Asian
HbVar.878 phenoCommon beta0 thalassemia
HbVar.879 protEffect HBB 90 (-GT); modified C-terminal sequence: (90)Arg-Ala-Ala-(93)Leu-COOH
HbVar.879 commonName Codons 89/90 (-GT); AGT GAG(Ser Glu)->A-- GAG beta0
HbVar.879 ethnic Korean
HbVar.879 phenoCommon beta0 thalassemia
HbVar.880 protEffect HBB 91(F6) Glu>Stop
HbVar.880 commonName Codon 90 (G->T); GAG(Glu)->TAG(stop codon) beta0
HbVar.880 ethnic Japanese
HbVar.880 phenoCommon beta0 thalassemia
HbVar.881 protEffect HBB 95(+TG); modified C-terminal sequence
HbVar.881 commonName Hb Agnana
HbVar.881 alias Codon 94 (+TG); GAC(Asp)->GTGAC Thalassemia intermedia
HbVar.881 ethnic Italian
HbVar.881 phenoCommon beta0 thalassemia
HbVar.882 protEffect HBB 96(+A); modified C-terminal sequence: (96)Lys-Ala-Ala-Arg-Gly- (101)Ser-COOH
HbVar.882 commonName Codon 95 (+A); AAG(Lys)->AAAG beta0
HbVar.882 ethnic Thai
HbVar.882 phenoCommon beta0 thalassemia
HbVar.883 protEffect HBB 101(G2) Pro->0 AND HBB 101(+TCTGAGAACTT); modified C-terminal sequence
HbVar.883 commonName Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type)
HbVar.883 ethnic South African
HbVar.883 phenoCommon beta0 thalassemia
HbVar.884 commonName IVS-II-1 (G->A); beta0
HbVar.884 ethnic Lebanese
HbVar.884 ethnic Jordan
HbVar.884 ethnic Israel
HbVar.884 ethnic Saudi Arabian
HbVar.884 ethnic Kuwaiti
HbVar.884 ethnic United Arab Emirates
HbVar.884 ethnic Oman
HbVar.884 ethnic Egyptian
HbVar.884 ethnic Italian
HbVar.884 ethnic Sardinian
HbVar.884 ethnic Sicilian
HbVar.884 ethnic Greek
HbVar.884 ethnic Turkish
HbVar.884 ethnic Macedonian
HbVar.884 ethnic Croatian
HbVar.884 ethnic Bulgarian
HbVar.884 ethnic Hungarian
HbVar.884 ethnic Czechoslovakian
HbVar.884 ethnic Azerbaijan
HbVar.884 ethnic Russian
HbVar.884 ethnic French
HbVar.884 ethnic Yemenite
HbVar.884 ethnic Pakistani
HbVar.884 ethnic Punjabi
HbVar.884 ethnic Pathan
HbVar.884 ethnic Japanese
HbVar.884 ethnic Korean
HbVar.884 ethnic Black
HbVar.884 ethnic Argentine
HbVar.884 ethnic Syria
HbVar.884 ethnic Bahrein
HbVar.884 ethnic Albania
HbVar.884 ethnic Serbian
HbVar.884 ethnic Iranian
HbVar.884 phenoCommon beta0 thalassemia
HbVar.885 commonName IVS-II-1 (G->C); beta0
HbVar.885 ethnic Iranian
HbVar.885 phenoCommon beta0 thalassemia
HbVar.886 commonName IVS-II-2,3 (+11, -2); beta0
HbVar.886 ethnic Iranian
HbVar.886 phenoCommon beta0 thalassemia
HbVar.887 commonName IVS-II-4,5 (-AG); beta (0 or + unclear)
HbVar.887 ethnic Portuguese
HbVar.887 phenoCommon beta (0 or + unclear) thalassemia
HbVar.888 commonName IVS-II-5 (G->C) beta+ (severe)
HbVar.888 ethnic Chinese
HbVar.888 phenoCommon beta+ thalassemia
HbVar.889 commonName IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA beta+ (severe)
HbVar.889 ethnic Russian
HbVar.889 ethnic Thai
HbVar.889 ethnic Malaysian
HbVar.889 ethnic Singapore
HbVar.889 ethnic Indonesian
HbVar.889 ethnic Taiwanese
HbVar.889 ethnic Chinese
HbVar.889 ethnic Japanese
HbVar.889 phenoCommon beta+ thalassemia
HbVar.890 commonName IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA beta+
HbVar.890 ethnic Mediterranean
HbVar.890 phenoCommon beta+ thalassemia
HbVar.891 commonName IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT beta+
HbVar.891 ethnic Lebanese
HbVar.891 ethnic Jordan
HbVar.891 ethnic Israel
HbVar.891 ethnic Egyptian
HbVar.891 ethnic Tunisian
HbVar.891 ethnic Algerian
HbVar.891 ethnic Italian
HbVar.891 ethnic Sardinian
HbVar.891 ethnic Sicilian
HbVar.891 ethnic Greek
HbVar.891 ethnic Greek Cypriot
HbVar.891 ethnic Turkish
HbVar.891 ethnic Macedonian
HbVar.891 ethnic Croatian
HbVar.891 ethnic Bulgarian
HbVar.891 ethnic Hungarian
HbVar.891 ethnic Czechoslovakian
HbVar.891 ethnic Azerbaijan
HbVar.891 ethnic French
HbVar.891 ethnic Portuguese
HbVar.891 ethnic Spanish
HbVar.891 ethnic Iranian
HbVar.891 ethnic Argentine
HbVar.891 ethnic Syria
HbVar.891 ethnic Turkish Cypriots
HbVar.891 ethnic Albania
HbVar.891 phenoCommon beta+ thalassemia
HbVar.892 protEffect HBG2 119(GH1) Phe>Leu
HbVar.892 commonName Hb F-Calabria
HbVar.892 ethnic Italian
HbVar.892 phenoCommon Hemoglobin variant
HbVar.893 protEffect HBB 85(EF8) Thr>Ala
HbVar.893 commonName Hb Saale
HbVar.893 ethnic German
HbVar.893 phenoCommon Hemoglobin variant
HbVar.894 protEffect HBA2 59(E7) His>Gln
HbVar.894 commonName Hb Boghe
HbVar.894 phenoCommon Hemoglobin variant
HbVar.895 commonName IVS-II-837 (T->G); beta+ or beta0
HbVar.895 ethnic Asian Indian
HbVar.895 phenoCommon beta (0 or + unclear) thalassemia
HbVar.896 protEffect HBA1 104(G10) His>Tyr
HbVar.896 commonName Hb Charolles
HbVar.896 ethnic Sardinian
HbVar.896 phenoCommon Hemoglobin variant
HbVar.897 commonName IVS-II-843 (T->G); beta+
HbVar.897 ethnic Algerian
HbVar.897 phenoCommon beta+ thalassemia
HbVar.898 commonName IVS-II-844 (C->G); beta+
HbVar.898 ethnic Italian
HbVar.898 phenoCommon beta+ thalassemia
HbVar.899 protEffect HBB 147(HC3) His>Tyr
HbVar.899 commonName Hb Bologna-St.Orsola
HbVar.899 alias Hb Hallamshire
HbVar.899 ethnic Anglo-Celtic
HbVar.899 ethnic Italian
HbVar.899 phenoCommon Hemoglobin variant
HbVar.900 protEffect HBA2 78(EF6) Pro>His
HbVar.900 commonName Hb Toulon
HbVar.900 ethnic French
HbVar.900 phenoCommon Hemoglobin variant
HbVar.901 commonName IVS-II-848 (C->A); beta+
HbVar.901 ethnic Jordan
HbVar.901 ethnic United Arab Emirates
HbVar.901 ethnic Egyptian
HbVar.901 ethnic Tunisian
HbVar.901 ethnic Algerian
HbVar.901 ethnic Greek
HbVar.901 ethnic Black
HbVar.901 phenoCommon beta+ thalassemia
HbVar.902 protEffect Ser-Asp-Leu- inserted between codons 87(F7) and 88(F8) of HBA1 or HBA2
HbVar.902 commonName Hb Neuilly-sur-Marne
HbVar.902 ethnic French
HbVar.902 phenoCommon Hemoglobin variant
HbVar.903 protEffect HBB 109(G10) Asn>Ile
HbVar.903 commonName Hb Schlierbach
HbVar.903 ethnic Chinese
HbVar.903 ethnic Swiss
HbVar.903 phenoCommon Hemoglobin variant
HbVar.904 protEffect HBB 140(H17) Asn>Thr
HbVar.904 commonName Hb Sagami
HbVar.904 ethnic Japanese
HbVar.904 phenoCommon Hemoglobin variant
HbVar.905 protEffect HBA1 38(C2) Pro->0
HbVar.905 commonName Hb Heraklion
HbVar.905 ethnic Cretan
HbVar.905 phenoCommon Thalassemia
HbVar.906 protEffect HBA1 63(E11) Val->0
HbVar.906 commonName Hb Aghia Sophia
HbVar.906 ethnic Greek
HbVar.906 phenoCommon Thalassemia
HbVar.907 protEffect HBB 34(B15) - 36(C1) Val-Val-Tyr->0 AND inserted Asp
HbVar.907 commonName Hb Dresden
HbVar.907 ethnic German
HbVar.907 phenoCommon Hemoglobin variant
HbVar.908 protEffect HBB 124(H1) Thr>Asn
HbVar.908 commonName Hb Ernz
HbVar.908 ethnic Italian
HbVar.908 phenoCommon Hemoglobin variant
HbVar.909 protEffect HBB 134(H11) Val>Ala
HbVar.909 commonName Hb Renert
HbVar.909 ethnic Jamaican
HbVar.909 phenoCommon Hemoglobin variant
HbVar.910 protEffect HBA1 or HBA2 21(B1) His>Pro
HbVar.910 commonName Hb Anderlecht
HbVar.910 ethnic Congolese
HbVar.910 phenoCommon Hemoglobin variant
HbVar.911 protEffect HBA2 21(B1) His>Asp
HbVar.911 commonName Hb Nikaia
HbVar.911 ethnic French Caucasian
HbVar.911 phenoCommon Hemoglobin variant
HbVar.912 protEffect HBA2 91(FG2) Lys>Arg
HbVar.912 commonName Hb Clinico-Madrid
HbVar.912 ethnic Spanish
HbVar.912 phenoCommon Hemoglobin variant
HbVar.913 protEffect HBB 2(NA1) Val>Gly
HbVar.913 commonName Hb Watford
HbVar.913 ethnic Ashkenazi Jews
HbVar.913 phenoCommon Hemoglobin variant
HbVar.914 protEffect HBA2 10(A7) Asn>Lys
HbVar.914 commonName Hb Park Ridge
HbVar.914 ethnic Caucasian
HbVar.914 phenoCommon Hemoglobin variant
HbVar.915 protEffect HBA1 or HBA2 47(CE4) Phe>Leu OR HBA2 or HBA2 47(CE4) Phe>Leu
HbVar.915 commonName Hb Rockaway
HbVar.915 ethnic African-American
HbVar.915 phenoCommon Hemoglobin variant
HbVar.916 protEffect HBA2 67(E15) Leu>Pro
HbVar.916 commonName Hb Dartmouth
HbVar.916 ethnic Irish
HbVar.916 ethnic Scottish
HbVar.916 phenoCommon Hemoglobin variant
HbVar.917 protEffect HBA2 73(EF1) His>Asp
HbVar.917 commonName Hb Norton
HbVar.917 ethnic Caucasian
HbVar.917 phenoCommon Hemoglobin variant
HbVar.918 protEffect HBA1 or HBA2 88(F8) His>Pro
HbVar.918 commonName Hb Grifton
HbVar.918 ethnic African-American
HbVar.918 phenoCommon Hemoglobin variant
HbVar.919 protEffect HBA1 90(FG1) His>Gln
HbVar.919 commonName Hb Buffalo
HbVar.919 alias Hb Reeuwijk
HbVar.919 ethnic Arabian
HbVar.919 phenoCommon Hemoglobin variant
HbVar.920 protEffect HBA1 96(G2) Pro>Gln
HbVar.920 commonName Hb Wichita
HbVar.920 phenoCommon Hemoglobin variant
HbVar.921 protEffect HBA2 104(G10) His>Tyr
HbVar.921 commonName Hb Lombard
HbVar.921 ethnic Italian
HbVar.921 phenoCommon Hemoglobin variant
HbVar.922 protEffect HBA2 114(GH1) Leu>Arg
HbVar.922 commonName Hb San Antonio
HbVar.922 ethnic Caucasian
HbVar.922 phenoCommon Hemoglobin variant
HbVar.923 protEffect HBA2 124(H6) Ala>Thr
HbVar.923 commonName Hb Santa Barnabas
HbVar.923 alias Hb Croxley Green
HbVar.923 ethnic English
HbVar.923 phenoCommon Hemoglobin variant
HbVar.924 protEffect HBA1 or HBA2 85(F5) Ser>Gly
HbVar.924 commonName Hb Wembley
HbVar.924 ethnic West Indian
HbVar.924 phenoCommon Hemoglobin variant
HbVar.925 protEffect HBB 22(B3) Asp>Val
HbVar.925 commonName Hb Rocky Mountain
HbVar.925 alias Hb Paddington
HbVar.925 ethnic Arabian
HbVar.925 phenoCommon Hemoglobin variant
HbVar.926 protEffect HBB 40(C5) Gln>His
HbVar.926 commonName Hb San Bruno
HbVar.926 ethnic African-American
HbVar.926 phenoCommon Hemoglobin variant
HbVar.927 protEffect HBB 98(FG4) His>Asn
HbVar.927 commonName Hb Santa Clara
HbVar.927 ethnic Mexican
HbVar.927 phenoCommon Hemoglobin variant
HbVar.928 protEffect HBB 109(G10) Asn>Ser
HbVar.928 commonName Hb Santa Juana
HbVar.928 alias Hb Serres
HbVar.928 ethnic Greek
HbVar.928 ethnic Mexican
HbVar.928 phenoCommon Hemoglobin variant
HbVar.929 protEffect HBB 143(H20) Ala>Thr
HbVar.929 commonName Hb Inglewood
HbVar.929 ethnic African-American
HbVar.929 phenoCommon Hemoglobin variant
HbVar.930 protEffect HBA1 127(H9) Asp>Glu
HbVar.930 commonName Hb Burlington
HbVar.930 ethnic Italian
HbVar.930 phenoCommon Hemoglobin variant
HbVar.931 protEffect HBB 135(H12) Val>Ala
HbVar.931 commonName Hb Yaounde
HbVar.931 alias Hb Mataro
HbVar.931 ethnic Cameroonian
HbVar.931 ethnic Portuguese
HbVar.931 phenoCommon Hemoglobin variant
HbVar.932 protEffect HBB 101(G2) Pro>Ala
HbVar.932 commonName Hb Nice
HbVar.932 ethnic Mediterranean
HbVar.932 phenoCommon Hemoglobin variant
HbVar.935 protEffect HBB 48(CD6) Asp>Val
HbVar.935 commonName Hb Muravera
HbVar.935 ethnic Sardinian
HbVar.935 phenoCommon Hemoglobin variant
HbVar.936 protEffect HBA1 62(E10) Lys->0
HbVar.936 commonName Hb Clinic
HbVar.936 ethnic Spanish
HbVar.936 phenoCommon Thalassemia
HbVar.937 protEffect HBA2 113(G19) His>Gln AND HBA2 114(GH1) - 117(GH4) Leu-Pro-Ala-Glu->0
HbVar.937 commonName Hb Lleida
HbVar.937 alias Codons 112-116 deletion of 12 nts of the alpha2 gene; alpha-Thal-2
HbVar.937 ethnic Spanish
HbVar.937 phenoCommon alpha-2 thalassemia
HbVar.938 commonName IVS-II-848 (C->G); beta+
HbVar.938 ethnic Macedonian
HbVar.938 ethnic Croatian
HbVar.938 ethnic Japanese
HbVar.938 phenoCommon beta+ thalassemia
HbVar.939 commonName IVS-II-849 (A->C); beta0
HbVar.939 ethnic Black
HbVar.939 phenoCommon beta0 thalassemia
HbVar.940 commonName IVS-II-849 (A->G); beta0
HbVar.940 ethnic Black
HbVar.940 phenoCommon beta0 thalassemia
HbVar.941 commonName IVS-II-850 (-G); beta0
HbVar.941 ethnic Italian
HbVar.941 phenoCommon beta0 thalassemia
HbVar.942 commonName IVS-II-850 (G->A); beta0
HbVar.942 ethnic Northern European
HbVar.942 phenoCommon beta0 thalassemia
HbVar.943 commonName IVS-II-850 (G->C); beta0
HbVar.943 ethnic Croatian
HbVar.943 phenoCommon beta0 thalassemia
HbVar.944 commonName IVS-II-850 (G->T); beta0
HbVar.944 ethnic Japanese
HbVar.944 phenoCommon beta0 thalassemia
HbVar.945 protEffect HBB 108(+G); modified C-terminal sequence: (108)Gly-Gln-Arg- Ala-Gly-Leu-Cys-Ala-Gly-Pro-Ser-Leu-Trp- Gln-Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH
HbVar.945 commonName Codons 106/107 (+G); CTG GGC(Leu Gly)->CTG G GC beta0
HbVar.945 ethnic Egyptian
HbVar.945 ethnic Black
HbVar.945 phenoCommon beta0 thalassemia
HbVar.946 protEffect HBB 109(G10) - 113(G14) Asn-Val-Leu-Val-Cys->0 AND inserted Ser
HbVar.946 commonName Codons 108/109/110/111/112 (-12 bp); beta0
HbVar.946 ethnic Swedish
HbVar.946 phenoCommon beta0 thalassemia
HbVar.947 protEffect HBB 110 (-G); modified C-terminal sequence: (110)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.947 commonName Hb Manhattan
HbVar.947 alias Codon 109 (-G); GTG(Val)->-TG beta0
HbVar.947 ethnic Lithuanian Ashkenazi
HbVar.947 phenoCommon beta0 thalassemia
HbVar.948 protEffect HBB 113(G14) Cys>Stop
HbVar.948 commonName Codon 112 (T->A); TGT(Cys)->TGA(stop codon) beta0
HbVar.948 ethnic Slovakian
HbVar.948 phenoCommon beta0 thalassemia
HbVar.949 protEffect HBB 115 (-CT); modified C-terminal sequence AND HBB 115(+G); modified C-terminal sequence
HbVar.949 commonName Hb Geneva
HbVar.949 alias Codon 114 (-CT; +G); CTG(Leu)->-GG beta0 (dominant beta-thal trait)
HbVar.949 ethnic Swiss
HbVar.949 phenoCommon beta0 thalassemia
HbVar.950 protEffect HBB 122(+A); modified C-terminal sequence: (122)Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH
HbVar.950 commonName Codons 120/121 (+A); AAA GAA(Lys-Glu)->AAA A GAA beta0 (mild dominant type of beta-thal)
HbVar.950 ethnic Filipino
HbVar.950 phenoCommon beta0 thalassemia
HbVar.951 protEffect HBB 122(GH4) Glu>Stop
HbVar.951 commonName Codon 121 (G->T); GAA(Glu)->TAA(stop codon) beta0 (dominant beta-thal trait)
HbVar.951 ethnic Czechoslovakian
HbVar.951 ethnic English
HbVar.951 ethnic Japanese
HbVar.951 ethnic Korean
HbVar.951 ethnic Greek Cypriot
HbVar.951 phenoCommon beta0 thalassemia
HbVar.952 protEffect HBB 124 (-A); modified C-terminal sequence: (124)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH
HbVar.952 commonName Hb Makabe
HbVar.952 alias Codon 123 (-A); ACC(Thr)->-CC Dominant inclusion body beta-thal trait
HbVar.952 ethnic Japanese
HbVar.952 phenoCommon beta0 thalassemia
HbVar.953 protEffect HBB 124 - 126 (-ACCCCACCA); modified C-terminal sequence: (124)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (144)His-COOH
HbVar.953 commonName Codons 123/124/125 (-ACCCCACC); Dominant inclusion body beta-thal trait
HbVar.953 ethnic Thai
HbVar.953 phenoCommon beta0 thalassemia
HbVar.954 protEffect HBB 125 (-A); modified C-terminal sequence: (125)Pro-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp- Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr- Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH
HbVar.954 commonName Codon 124 (-A); CCA(Pro)->CC- Dominant, inclusion body beta-thal trait
HbVar.954 ethnic Russian
HbVar.954 phenoCommon beta0 thalassemia
HbVar.955 protEffect HBB 126 (-A); modified C-terminal sequence: (126)Pro-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp- Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser- Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn- Phe-(157)Tyr-COOH
HbVar.955 commonName Codon 125 (-A); CCA(Pro)->CC- Dominant inclusion body beta-thal trait
HbVar.955 ethnic Japanese
HbVar.955 phenoCommon beta0 thalassemia
HbVar.956 protEffect Pro- inserted between codons 126(H3) and 127(H4) of HBB
HbVar.956 commonName Codons 124-126 (+CCA); Dominant inclusion body beta-thal trait
HbVar.956 ethnic Russian
HbVar.956 ethnic Armenian
HbVar.956 phenoCommon beta0 thalassemia
HbVar.957 protEffect HBB 127 (-T); modified C-terminal sequence: (127)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (157)Tyr-COOH
HbVar.957 commonName Hb Vercelli
HbVar.957 alias Codon 126 (-T); GTG(Val)->G-G beta0
HbVar.957 ethnic Italian
HbVar.957 phenoCommon beta0 thalassemia
HbVar.958 protEffect HBB 127 - 132 (-TGCAGGCTGCCTATCAG); modified C-terminal sequence: (127)Glu-Ser-Gly-Gly-Trp-Cys-(133)Gly-COOH
HbVar.958 commonName Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG CAG GCT GCC TAT CAG->G beta0
HbVar.958 ethnic Pakistani
HbVar.958 ethnic Pathan
HbVar.958 phenoCommon beta0 thalassemia
HbVar.959 protEffect HBB 128(H5) Gln>Pro
HbVar.959 commonName Codon 127 (A->C); CAG(Gln)->CCG(Pro) Dominant inclusion body beta-thal trait
HbVar.959 ethnic English
HbVar.959 phenoCommon beta0 thalassemia
HbVar.960 protEffect HBB 128(H5) Gln>Arg
HbVar.960 commonName Codon 127 (A->G); CAG(Gln)->CGG(Arg) Dominant inclusion body beta-thal trait
HbVar.960 ethnic French
HbVar.960 phenoCommon beta0 thalassemia
HbVar.961 protEffect HBB 128(H5) Gln>Stop
HbVar.961 commonName Codon 127 (C->T); CAG(Gln)->TAG(stop codon) beta0 (dominant, inclusion body, beta-thal trait)
HbVar.961 ethnic English
HbVar.961 phenoCommon beta0 thalassemia
HbVar.962 protEffect HBB 128(H5) - 129(H6) Gln-Ala->0 AND inserted Pro
HbVar.962 commonName Codons 127/128 (-AGG); CAG GCT(Gln Ala)->C--- CT(Pro) beta0
HbVar.962 ethnic Japanese
HbVar.962 phenoCommon beta0 thalassemia
HbVar.963 protEffect HBB 128 - 130 (-GCTG); modified C-terminal sequence AND HBB 132 - 136 (-AAAGTGGTGGC); modified C-terminal sequence AND HBB 129(+CCACA); modified C-terminal sequence
HbVar.963 commonName Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait
HbVar.963 ethnic Irish
HbVar.963 phenoCommon beta0 thalassemia
HbVar.964 protEffect HBB 134 - 138 (-TGGCTGGTGT); modified C-terminal sequence AND HBB 135(+GCAG); modified C-terminal sequence
HbVar.964 commonName Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait
HbVar.964 ethnic Portuguese
HbVar.964 phenoCommon beta0 thalassemia
HbVar.965 commonName +1480 (C->G); beta+ (silent; only expressed in compound heterozygotes)
HbVar.965 alias 3' terminating codon +6 (C->G) beta+
HbVar.965 ethnic Greek
HbVar.965 phenoCommon beta+ thalassemia
HbVar.966 commonName 3'UTR (-GCATCTGGATTCT) beta (0 or + unclear)
HbVar.966 ethnic Turk
HbVar.966 phenoCommon beta (0 or + unclear) thalassemia
HbVar.967 commonName T->C; 12 nts 5' to the poly A site or +1570 (the number is relative to the Cap site) beta+
HbVar.967 ethnic Irish
HbVar.967 phenoCommon beta+ thalassemia
HbVar.968 commonName Poly A (T->C); AATAAA->AACAAA beta+
HbVar.968 ethnic Black
HbVar.968 ethnic Turk
HbVar.968 phenoCommon beta+ thalassemia
HbVar.969 commonName Poly A (A->G); AATAAA->AATGAA beta+
HbVar.969 ethnic Greek
HbVar.969 ethnic Macedonian
HbVar.969 ethnic Bulgarian
HbVar.969 ethnic Albania
HbVar.969 phenoCommon beta+ thalassemia
HbVar.970 commonName Poly A (A->G); AATAAA->AATAGA beta+
HbVar.970 ethnic Malaysian
HbVar.970 ethnic Singapore
HbVar.970 phenoCommon beta+ thalassemia
HbVar.971 commonName Poly A (A->G); AATAAA->AATAAG beta+
HbVar.971 ethnic United Arab Emirates
HbVar.971 ethnic Kurdish Jewish
HbVar.971 phenoCommon beta+ thalassemia
HbVar.972 commonName Poly A (-AT or -TA); AATAAA->A--AAA beta+
HbVar.972 ethnic French
HbVar.972 phenoCommon beta+ thalassemia
HbVar.973 commonName Poly A (-AATAA); AATAAA->-----A beta+
HbVar.973 ethnic Arabian
HbVar.973 phenoCommon beta+ thalassemia
HbVar.974 commonName 25 bp deletion beta0
HbVar.974 ethnic Lebanese
HbVar.974 ethnic Kuwaiti
HbVar.974 ethnic United Arab Emirates
HbVar.974 ethnic Oman
HbVar.974 ethnic Iranian
HbVar.974 ethnic Pakistani
HbVar.974 ethnic Syria
HbVar.974 ethnic Bahrein
HbVar.974 phenoCommon beta0 thalassemia
HbVar.975 commonName 44 bp deletion beta0
HbVar.975 ethnic Greek
HbVar.975 ethnic Macedonian
HbVar.975 phenoCommon beta0 thalassemia
HbVar.976 commonName 105 bp deletion beta0
HbVar.976 ethnic Thai
HbVar.976 phenoCommon beta0 thalassemia
HbVar.977 commonName 290 bp deletion beta0
HbVar.977 ethnic Lebanese
HbVar.977 ethnic Turkish
HbVar.977 phenoCommon beta0 thalassemia
HbVar.978 commonName 532 bp deletion beta0
HbVar.978 ethnic Black
HbVar.978 phenoCommon beta0 thalassemia
HbVar.979 commonName 619 bp deletion beta0
HbVar.979 ethnic Oman
HbVar.979 ethnic Pakistani
HbVar.979 ethnic Maharashtran
HbVar.979 ethnic Pathan
HbVar.979 ethnic Thai
HbVar.979 phenoCommon beta0 thalassemia
HbVar.980 commonName 1,393 bp deletion beta0
HbVar.980 ethnic Black
HbVar.980 phenoCommon beta0 thalassemia
HbVar.981 commonName 1,605 bp deletion the Croatian deletion beta0
HbVar.981 ethnic Croatian
HbVar.981 phenoCommon beta0 thalassemia
HbVar.987 commonName 12,620 bp deletion; the Dutch deletion beta0
HbVar.987 ethnic Dutch
HbVar.987 phenoCommon beta0 thalassemia
HbVar.989 commonName ~45 kb deletion; the Filipino deletion beta0
HbVar.989 ethnic Filipino
HbVar.989 ethnic Indonesian
HbVar.989 ethnic Malay
HbVar.989 phenoCommon beta0 thalassemia
HbVar.991 commonName -77 (T->C) delta (0 or + unclear)
HbVar.991 ethnic Japanese
HbVar.991 phenoCommon delta (0 or + unclear) thalassemia
HbVar.992 commonName -65 (A->G) delta+
HbVar.992 ethnic Greek
HbVar.992 ethnic Cypriot
HbVar.992 phenoCommon delta+ thalassemia
HbVar.993 commonName -55 (T->C) delta+
HbVar.993 ethnic Greek
HbVar.993 ethnic Cypriot
HbVar.993 phenoCommon delta+ thalassemia
HbVar.994 commonName -36 (C->A); probably delta+
HbVar.994 ethnic Greek
HbVar.994 phenoCommon delta+ thalassemia
HbVar.995 protEffect HBD 5(A1) Thr>Ile
HbVar.995 commonName Codon 4 (ACT->ATT) delta+
HbVar.995 ethnic Greek
HbVar.995 ethnic Cypriot
HbVar.995 phenoCommon delta+ thalassemia
HbVar.996 protEffect HBD 31(B12) Arg>Thr
HbVar.996 commonName Codon 30 (AGG->ACG) delta0
HbVar.996 ethnic Italian
HbVar.996 phenoCommon delta0 thalassemia
HbVar.997 commonName IVS-I-2 (T->C) delta0
HbVar.997 ethnic Italian
HbVar.997 phenoCommon delta0 thalassemia
HbVar.998 protEffect HBD 38(C3) Trp>Stop
HbVar.998 commonName Codon 37 (TGG->TAG) delta0
HbVar.998 ethnic Sardinian
HbVar.998 phenoCommon delta0 thalassemia
HbVar.999 protEffect HBD 60 (-A); modified C-terminal sequence: (60)Arg-COOH
HbVar.999 commonName Codon 59 (-A); AAG(Lys)->-AG delta0
HbVar.999 ethnic Egyptian
HbVar.999 phenoCommon delta0 thalassemia
HbVar.1000 protEffect HBD 91(+T); modified C-terminal sequence: (91)stop codon
HbVar.1000 commonName Codon 91 (+T) delta0
HbVar.1000 ethnic Belgian
HbVar.1000 phenoCommon delta0 thalassemia
HbVar.1001 commonName IVS-II-897, A->C; AG^CT->CGCT delta0
HbVar.1001 ethnic Greek
HbVar.1001 ethnic Cypriot
HbVar.1001 phenoCommon delta0 thalassemia
HbVar.1002 protEffect HBD 117(G18) Arg>Cys
HbVar.1002 commonName Codon 116 (CGC->TGC) delta+
HbVar.1002 ethnic Greek
HbVar.1002 ethnic Cypriot
HbVar.1002 phenoCommon delta+ thalassemia
HbVar.1003 protEffect HBD 142(H19) Leu>Pro
HbVar.1003 commonName Codon 141 (CTG->CCG) delta (0 or + unclear)
HbVar.1003 ethnic Greek
HbVar.1003 ethnic Cypriot
HbVar.1003 phenoCommon delta (0 or + unclear) thalassemia
HbVar.1004 commonName Poly A +69 (G->A) delta
HbVar.1004 ethnic Sardinian
HbVar.1004 phenoCommon delta (0 or + unclear) thalassemia
HbVar.1005 commonName -7.2 kb; the Corfu deletion delta0
HbVar.1005 ethnic Greek
HbVar.1005 ethnic Italian
HbVar.1005 phenoCommon delta0 thalassemia
HbVar.1006 commonName -202 (C->G) Ggamma; nd-HPFH
HbVar.1006 ethnic Black
HbVar.1006 phenoCommon HPFH thalassemia
HbVar.1007 commonName -202 (C->T) Agamma; nd-HPFH
HbVar.1007 ethnic Black
HbVar.1007 phenoCommon HPFH thalassemia
HbVar.1009 commonName -198 (T->C) Agamma; the British nd-HPFH
HbVar.1009 ethnic British
HbVar.1009 ethnic Australian
HbVar.1009 phenoCommon HPFH thalassemia
HbVar.1010 commonName -196 (C->T) Agamma; the Italian nd-HPFH
HbVar.1010 ethnic Italian
HbVar.1010 phenoCommon HPFH thalassemia
HbVar.1011 commonName -195 (C->G) Agamma; the Brazilian nd-HPFH
HbVar.1011 ethnic Brazilian
HbVar.1011 phenoCommon HPFH thalassemia
HbVar.1012 commonName -175 (T->C) Ggamma; nd-HPFH
HbVar.1012 ethnic Black
HbVar.1012 phenoCommon HPFH thalassemia
HbVar.1013 commonName -175 (T->C) Agamma; the Black nd-HPFH
HbVar.1013 ethnic Black
HbVar.1013 phenoCommon HPFH thalassemia
HbVar.1014 commonName -117 (G->A) Agamma; the Greek-Italian nd-HPFH
HbVar.1014 ethnic Greek
HbVar.1014 ethnic Italian
HbVar.1014 phenoCommon HPFH thalassemia
HbVar.1015 commonName -117 (G->A) Agamma; the Black-Greek nd-HPFH
HbVar.1015 ethnic Black
HbVar.1015 phenoCommon HPFH thalassemia
HbVar.1016 commonName -114 (C->G) Ggamma; the Australian nd-HPFH
HbVar.1016 ethnic Australian
HbVar.1016 phenoCommon HPFH thalassemia
HbVar.1017 commonName -114 (C->T) Ggamma; the Japanese nd-HPFH
HbVar.1017 ethnic Japanese
HbVar.1017 phenoCommon HPFH thalassemia
HbVar.1018 commonName -114 (C->T) Agamma; the Georgia nd-HPFH
HbVar.1018 ethnic Black
HbVar.1018 phenoCommon HPFH thalassemia
HbVar.1019 commonName -110 (A->C) Ggamma; the Czech nd-HPFH
HbVar.1019 ethnic Czechoslovakian
HbVar.1019 phenoCommon HPFH thalassemia
HbVar.1020 commonName The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102); HPFH
HbVar.1020 ethnic Black
HbVar.1020 phenoCommon HPFH thalassemia
HbVar.1021 commonName HPFH-1; Black
HbVar.1021 ethnic Black
HbVar.1021 phenoCommon HPFH thalassemia
HbVar.1021 phenoCommon mild Erythrocytosis
HbVar.1022 commonName HPFH-2; Ghanaian
HbVar.1022 ethnic Black
HbVar.1022 ethnic Ghanaian
HbVar.1022 phenoCommon HPFH thalassemia
HbVar.1022 phenoCommon mild Erythrocytosis
HbVar.1023 commonName HPFH-3; Indian
HbVar.1023 ethnic Indian
HbVar.1023 phenoCommon HPFH thalassemia
HbVar.1028 commonName Indian GgammaAgamma(deltabeta)0-Thal
HbVar.1028 ethnic Indian
HbVar.1028 phenoCommon (delta-beta)0 thalassemia
HbVar.1029 commonName Japanese (deltabeta)0-Thal
HbVar.1029 ethnic Japanese
HbVar.1029 phenoCommon (delta-beta)0 thalassemia
HbVar.1030 commonName Spanish (deltabeta)0-Thal
HbVar.1030 ethnic Spanish
HbVar.1030 phenoCommon (delta-beta)0 thalassemia
HbVar.1030 phenoCommon chronic Anemia
HbVar.1030 phenoCommon hemolytic Anemia
HbVar.1030 phenoCommon mild Anemia
HbVar.1031 commonName Black (deltabeta)0-Thal
HbVar.1031 ethnic Black
HbVar.1031 phenoCommon (delta-beta)0 thalassemia
HbVar.1035 commonName Sicilian (deltabeta)0-Thal
HbVar.1035 ethnic Mediterranean
HbVar.1035 ethnic Sicilian
HbVar.1035 ethnic Italian
HbVar.1035 ethnic Yugoslavian
HbVar.1035 ethnic Hungarian
HbVar.1035 ethnic Greek
HbVar.1035 ethnic Turk
HbVar.1035 ethnic Israel
HbVar.1035 ethnic Egyptian
HbVar.1035 phenoCommon (delta-beta)0 thalassemia
HbVar.1039 commonName German Ggamma(Agammadeltabeta)0-Thal
HbVar.1039 ethnic German
HbVar.1039 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1042 commonName Turkish Ggamma(Agammadeltabeta)0-Thal
HbVar.1042 ethnic Turk
HbVar.1042 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1042 phenoCommon moderate Anemia
HbVar.1043 commonName Malay-2 Ggamma(Agammadeltabeta)0-Thal
HbVar.1043 ethnic Malay
HbVar.1043 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1043 phenoCommon moderate Anemia
HbVar.1043 phenoCommon mild Hypochromia
HbVar.1043 phenoCommon few Target cells
HbVar.1043 phenoCommon Jaundice
HbVar.1045 commonName Black Ggamma(Agammadeltabeta)0-Thal
HbVar.1045 ethnic Black
HbVar.1045 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1046 commonName Chinese Ggamma(Agammadeltabeta)0-Thal
HbVar.1046 ethnic Chinese
HbVar.1046 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1048 commonName HPFH-6
HbVar.1048 alias Thai Ggamma(Agammadeltabeta)0-Thal
HbVar.1048 ethnic Thai
HbVar.1048 phenoCommon HPFH thalassemia
HbVar.1052 commonName Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal
HbVar.1052 ethnic Anglo-Saxon
HbVar.1052 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1055 commonName Irish (epsilon-gamma-delta-beta)0-Thal
HbVar.1055 ethnic Irish
HbVar.1055 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1056 commonName Dutch (epsilon-gamma-delta-beta)0-Thal
HbVar.1056 ethnic Dutch
HbVar.1056 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1058 commonName Hispanic (epsilon-gamma-delta-beta)0-Thal
HbVar.1058 ethnic Hispanic
HbVar.1058 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1059 commonName Initiation codon (A->G); of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1
HbVar.1059 ethnic Black
HbVar.1059 phenoCommon alpha-1 thalassemia
HbVar.1061 protEffect HBA2 Initiation codon Met>Thr
HbVar.1061 commonName Initiation codon (T->C); ATG->ACG of the alpha2 gene alpha-Thal-2
HbVar.1061 ethnic Italian
HbVar.1061 phenoCommon alpha-2 thalassemia
HbVar.1061 phenoCommon marked Anemia
HbVar.1061 phenoCommon marked Microcytosis
HbVar.1062 protEffect HBA2 Initiation codon Met->0
HbVar.1062 commonName Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2
HbVar.1062 ethnic Vietnamese
HbVar.1062 phenoCommon alpha-2 thalassemia
HbVar.1063 commonName Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2
HbVar.1063 ethnic Sardinian
HbVar.1063 phenoCommon alpha-2 thalassemia
HbVar.1065 commonName IVS-I donor site (GAG GTG AGG->GAG G- - - - -); alpha2-globin gene
HbVar.1065 alias alpha-thal-2 (-5nt)
HbVar.1065 ethnic Mediterranean
HbVar.1065 phenoCommon alpha-2 thalassemia
HbVar.1066 commonName IVS-I-116 (A->G) alpha2 gene; alpha-Thal-2
HbVar.1066 ethnic Dutch
HbVar.1066 phenoCommon alpha-2 thalassemia
HbVar.1067 commonName IVS-I-117 (G->A) alpha1 gene; alpha-Thal-2
HbVar.1067 ethnic Indian
HbVar.1067 phenoCommon alpha-2 thalassemia
HbVar.1068 protEffect HBA1 52 - 56 (-GCTCTGCCCAGGT); modified C-terminal sequence: (52)Val-Arg-Ala-Thr-Ala-Arg-Arg-Trp-Pro-Thr- (62)Arg-COOH
HbVar.1068 commonName Deletion of 13 nts from codons 51-55 of the alpha1 gene; alpha-Thal-2
HbVar.1068 ethnic Spanish
HbVar.1068 phenoCommon alpha-2 thalassemia
HbVar.1069 protEffect HBA2 117(GH4) Glu>Stop
HbVar.1069 commonName Codon 116 (G->T) of the alpha2 gene; GAG->TAG alpha-Thal-2
HbVar.1069 ethnic Black
HbVar.1069 phenoCommon alpha-2 thalassemia
HbVar.1070 commonName Poly A (A->G); AATAAA->AATAAG of the alpha2 gene alpha-Thal-2
HbVar.1070 ethnic Arabian
HbVar.1070 phenoCommon alpha-2 thalassemia
HbVar.1071 commonName Poly A (A->G); AATAAA->AATGAA of the alpha2 gene alpha-Thal-2
HbVar.1071 ethnic Turk
HbVar.1071 ethnic Cypriot
HbVar.1071 ethnic Kuwaiti
HbVar.1071 phenoCommon alpha-2 thalassemia
HbVar.1072 commonName Poly A; AATAAA->AATA- - of the alpha2 gene alpha-thal-2
HbVar.1072 ethnic Indian
HbVar.1072 phenoCommon alpha-2 thalassemia
HbVar.1073 commonName 3'UTR (-16 bp) alpha2 gene; alpha-Thal-2
HbVar.1073 ethnic Arabian
HbVar.1073 phenoCommon alpha-2 thalassemia
HbVar.1074 commonName 2.7 kb deletion involving the alpha1 gene alpha-Thal-2
HbVar.1074 ethnic Chinese
HbVar.1074 phenoCommon alpha-2 thalassemia
HbVar.1075 commonName 3.5 kb deletion involving the alpha1 gene alpha-Thal-2
HbVar.1075 ethnic Indian
HbVar.1075 phenoCommon alpha-2 thalassemia
HbVar.1076 commonName 3.7 kb (type I) deletion alpha-2
HbVar.1076 ethnic Indian
HbVar.1076 ethnic Far East
HbVar.1076 ethnic African
HbVar.1076 ethnic Mediterranean
HbVar.1076 phenoCommon alpha-2 thalassemia
HbVar.1080 commonName 5.3 kb deletion; alpha-Thal-2
HbVar.1080 ethnic Italian
HbVar.1080 phenoCommon alpha-2 thalassemia
HbVar.1083 commonName - -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1
HbVar.1083 ethnic Black
HbVar.1083 phenoCommon alpha-1 thalassemia
HbVar.1084 commonName - -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1
HbVar.1084 ethnic Spanish
HbVar.1084 phenoCommon alpha-1 thalassemia
HbVar.1085 commonName - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1
HbVar.1085 ethnic Spanish
HbVar.1085 phenoCommon alpha-1 thalassemia
HbVar.1086 commonName - -(SEA); deletion of ~20 kb including both alpha-globin genes alpha-Thal-1
HbVar.1086 ethnic East Asian
HbVar.1086 phenoCommon alpha-1 thalassemia
HbVar.1087 commonName - -(MED-I); deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1
HbVar.1087 ethnic Mediterranean
HbVar.1087 phenoCommon alpha-1 thalassemia
HbVar.1088 commonName -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1
HbVar.1088 ethnic Mediterranean
HbVar.1088 ethnic Central Asian
HbVar.1088 phenoCommon alpha-1 thalassemia
HbVar.1089 commonName - -(MA); deletion of ~22 kb involving both alpha genes alpha-Thal-1
HbVar.1089 ethnic Spanish
HbVar.1089 phenoCommon alpha-1 thalassemia
HbVar.1090 commonName - -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1
HbVar.1090 ethnic South African
HbVar.1090 phenoCommon alpha-1 thalassemia
HbVar.1091 commonName - -(BRIT); deletion of ~26 kb involving both alpha genes alpha-Thal-1
HbVar.1091 ethnic British
HbVar.1091 ethnic Black
HbVar.1091 phenoCommon alpha-1 thalassemia
HbVar.1093 commonName - -(CL); deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1
HbVar.1093 phenoCommon alpha-1 thalassemia
HbVar.1094 commonName - -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1
HbVar.1094 ethnic Filipino
HbVar.1094 phenoCommon alpha-1 thalassemia
HbVar.1095 commonName - -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1
HbVar.1095 ethnic Thai
HbVar.1095 phenoCommon alpha-1 thalassemia
HbVar.1096 commonName - -(CAL); deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1
HbVar.1096 ethnic Italian
HbVar.1096 ethnic Spanish
HbVar.1096 phenoCommon alpha-1 thalassemia
HbVar.1097 commonName - -(MED-II); a deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1
HbVar.1097 ethnic Turk
HbVar.1097 ethnic Mediterranean
HbVar.1097 phenoCommon alpha-1 thalassemia
HbVar.1100 commonName - -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1
HbVar.1100 ethnic British
HbVar.1100 ethnic German
HbVar.1100 phenoCommon alpha-1 thalassemia
HbVar.1102 commonName - -(MC); a deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1
HbVar.1102 ethnic British
HbVar.1102 phenoCommon alpha-1 thalassemia
HbVar.1103 protEffect HBB 4(NA3) Leu>Val
HbVar.1103 commonName Hb Kamakura
HbVar.1103 ethnic Japanese
HbVar.1103 phenoCommon Hemoglobin variant
HbVar.1105 protEffect HBA2 140(HC1) Lys>Glu
HbVar.1105 commonName Hb Hanamaki-2
HbVar.1105 ethnic Caucasian
HbVar.1105 ethnic English
HbVar.1105 ethnic French
HbVar.1105 ethnic Irish
HbVar.1105 ethnic American Indian
HbVar.1105 phenoCommon Hemoglobin variant
HbVar.1106 protEffect HBA1 123(H5) His>Tyr
HbVar.1106 commonName Hb Yanase
HbVar.1106 ethnic Japanese
HbVar.1106 phenoCommon Hemoglobin variant
HbVar.1107 protEffect HBD 9(A5) Lys>Glu
HbVar.1107 commonName Hb A2-Toranomon
HbVar.1107 ethnic Japanese
HbVar.1107 phenoCommon Hemoglobin variant
HbVar.1108 protEffect HBB 89(F4) Leu>Val
HbVar.1108 commonName Hb Oofuna
HbVar.1108 ethnic Japanese
HbVar.1108 phenoCommon Hemoglobin variant
HbVar.1109 protEffect HBA1 or HBA2 90(FG1) His>Arg
HbVar.1109 commonName Hb Tamano
HbVar.1109 ethnic Japanese
HbVar.1109 phenoCommon Hemoglobin variant
HbVar.1110 protEffect HBB 70(E13) Gly->0 AND Gly-Leu-Gly- inserted between 69(E12) and 71(E14) of HBB
HbVar.1110 commonName Hb Nishinomiya
HbVar.1110 phenoCommon Hemoglobin variant
HbVar.1111 protEffect HBA2 2(NA1) Val>Ala
HbVar.1111 commonName Hb Lyon-Bron
HbVar.1111 ethnic French
HbVar.1111 phenoCommon Hemoglobin variant
HbVar.1112 protEffect HBA1 4(A1) Ser>Phe
HbVar.1112 commonName Hb Douala
HbVar.1112 ethnic Cameroonian
HbVar.1112 phenoCommon Hemoglobin variant
HbVar.1113 protEffect HBB 137(H14) Gly>Arg
HbVar.1113 commonName Hb 'tlangeland
HbVar.1113 ethnic Chinese
HbVar.1113 phenoCommon Hemoglobin variant
HbVar.1114 protEffect HBA2 56(E4) Val>Ala
HbVar.1114 commonName Hb Gerland
HbVar.1114 ethnic French
HbVar.1114 phenoCommon Hemoglobin variant
HbVar.1115 protEffect HBG2 76(E19) Ile>Val
HbVar.1115 commonName Hb F-Coigneres
HbVar.1115 phenoCommon Hemoglobin variant
HbVar.1116 protEffect HBA2 10(A7) Asn>Ser
HbVar.1116 commonName Hb Zurich-Hottingen
HbVar.1116 ethnic Spanish
HbVar.1116 phenoCommon Hemoglobin variant
HbVar.1117 protEffect HBA1 41(C5) Lys>Asn
HbVar.1117 commonName Hb Saratoga Springs
HbVar.1117 ethnic Swedish
HbVar.1117 phenoCommon Hemoglobin variant
HbVar.1118 protEffect HBB 117(G18) His>Tyr
HbVar.1118 commonName Hb Rhode Island
HbVar.1118 alias Hb Southwark
HbVar.1118 phenoCommon Hemoglobin variant
HbVar.1119 protEffect HBB 42(C7) Phe>Cys
HbVar.1119 commonName Hb Ilmenau
HbVar.1119 ethnic German
HbVar.1119 phenoCommon Hemoglobin variant
HbVar.1120 protEffect HBA1 103(G9) Ser>Arg
HbVar.1120 commonName Hb Manitoba II
HbVar.1120 ethnic English
HbVar.1120 ethnic German
HbVar.1120 ethnic Irish
HbVar.1120 ethnic Italian
HbVar.1120 phenoCommon Hemoglobin variant
HbVar.1121 protEffect HBA2 103(G9) Ser>Arg
HbVar.1121 commonName Hb Manitoba III
HbVar.1121 ethnic Taiwanese
HbVar.1121 phenoCommon Hemoglobin variant
HbVar.1122 protEffect HBA1 10(A7) Asn>Lys
HbVar.1122 commonName Hb Delfzicht
HbVar.1122 ethnic Dutch
HbVar.1122 phenoCommon Hemoglobin variant
HbVar.1123 protEffect HBA1 120(H2) Pro>Ser
HbVar.1123 commonName Hb Groene Hart
HbVar.1123 alias Hb Bernalda
HbVar.1123 ethnic Italian
HbVar.1123 ethnic Moroccan
HbVar.1123 phenoCommon Hemoglobin variant
HbVar.1125 protEffect HBB 10(A6) Ser>Tyr AND HBB 122(GH4) Glu>Gln
HbVar.1125 commonName Hb D-Agri
HbVar.1125 ethnic Indian
HbVar.1125 phenoCommon Hemoglobin variant
HbVar.1126 protEffect HBD 147(HC3) His>Arg
HbVar.1126 commonName Hb A2-Monreale
HbVar.1126 ethnic Sicilian
HbVar.1126 phenoCommon Hemoglobin variant
HbVar.1128 protEffect HBB 12(A8) Val>Ile AND HBB 122(GH4) Glu>Lys
HbVar.1128 commonName Hb O-Tibesti
HbVar.1128 ethnic Sudanese
HbVar.1128 ethnic Chadian
HbVar.1128 phenoCommon Hemoglobin variant
HbVar.1129 protEffect HBB 9(A5) Lys>Asn
HbVar.1129 commonName Hb Limassol
HbVar.1129 ethnic Greek Cypriot
HbVar.1129 phenoCommon Hemoglobin variant
HbVar.1135 commonName Hb Antalya
HbVar.1135 ethnic Turkish
HbVar.1135 phenoCommon Thalassemia
HbVar.1136 protEffect HBB 113(G14) Cys>Phe
HbVar.1136 commonName Hb Canterbury
HbVar.1136 ethnic New Zealand
HbVar.1136 phenoCommon Hemoglobin variant
HbVar.1137 protEffect HBB 127(H4) Val>Leu
HbVar.1137 commonName Hb Molfetta
HbVar.1137 ethnic Italian
HbVar.1137 phenoCommon Hemoglobin variant
HbVar.1138 commonName Hb Zurich-Altstetten
HbVar.1138 ethnic Thai
HbVar.1138 phenoCommon Hemoglobin variant
HbVar.1139 protEffect HBA1 or HBA2 45(CE2) Pro>Ala
HbVar.1139 commonName Hb Milne
HbVar.1139 phenoCommon Hemoglobin variant
HbVar.1141 protEffect HBB 147(HC3) His>Gln
HbVar.1141 commonName Hb Kodaira II
HbVar.1141 ethnic Chinese
HbVar.1141 ethnic Thai
HbVar.1141 phenoCommon Hemoglobin variant
HbVar.1142 protEffect HBA1 133(+T); modified C-terminal sequence: (133)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(176)Val-COOH
HbVar.1142 commonName Hb Pak Num Po
HbVar.1142 ethnic Thai
HbVar.1142 phenoCommon Thalassemia
HbVar.1143 protEffect HBB 65(E8) Gly>Ala
HbVar.1143 commonName Hb Aubagne
HbVar.1143 ethnic French Caucasian
HbVar.1143 phenoCommon Hemoglobin variant
HbVar.1144 protEffect HBB 114(G15) Val>Leu
HbVar.1144 commonName Hb Champagne
HbVar.1144 ethnic French
HbVar.1144 phenoCommon Hemoglobin variant
HbVar.1145 protEffect HBB 62(E5) Lys>Gln
HbVar.1145 commonName Hb Pocos de Caldas
HbVar.1145 ethnic Brazilian
HbVar.1145 phenoCommon Hemoglobin variant
HbVar.1146 protEffect HBG1 122(GH4) Glu>Gln
HbVar.1146 commonName Hb F-Campinas
HbVar.1146 ethnic Brazilian
HbVar.1146 phenoCommon Hemoglobin variant
HbVar.1147 protEffect HBB 103(G4) Asn>His
HbVar.1147 commonName Hb Canebiere
HbVar.1147 phenoCommon Hemoglobin variant
HbVar.1148 protEffect HBB 117(G18) His>Leu
HbVar.1148 commonName Hb Vexin
HbVar.1148 ethnic French Caucasian
HbVar.1148 phenoCommon Hemoglobin variant
HbVar.1149 protEffect HBB 35(B16) Val>Leu
HbVar.1149 commonName Hb Nantes
HbVar.1149 ethnic French Caucasian
HbVar.1149 phenoCommon Hemoglobin variant
HbVar.1150 protEffect HBB 77(E20) Ala>Val
HbVar.1150 commonName Hb Harlequin
HbVar.1150 ethnic English
HbVar.1150 phenoCommon Hemoglobin variant
HbVar.1151 protEffect HBB 117(G18) His>Pro
HbVar.1151 commonName Hb Miami
HbVar.1151 ethnic Brazilian
HbVar.1151 phenoCommon Hemoglobin variant
HbVar.1152 protEffect HBG2 39(C4) Thr>Pro
HbVar.1152 commonName Hb F-Bonheiden
HbVar.1152 ethnic Caucasian
HbVar.1152 phenoCommon Hemoglobin variant
HbVar.1153 protEffect HBB 32(B13) Leu>Val
HbVar.1153 commonName Hb Badalona
HbVar.1153 ethnic Spanish
HbVar.1153 phenoCommon Hemoglobin variant
HbVar.1154 protEffect HBB 34(B15) Val>Met
HbVar.1154 commonName Hb Rio Claro
HbVar.1154 ethnic Brazilian
HbVar.1154 phenoCommon Hemoglobin variant
HbVar.1155 protEffect HBA2 38(C2) Pro>Leu
HbVar.1155 commonName Hb Manawatu
HbVar.1155 ethnic British
HbVar.1155 phenoCommon Hemoglobin variant
HbVar.1156 protEffect HBB 50(CD8) Ser>Cys
HbVar.1156 commonName Hb Colima
HbVar.1156 ethnic Mexican
HbVar.1156 phenoCommon Hemoglobin variant
HbVar.1157 protEffect HBB 58(E1) Asn>His
HbVar.1157 commonName Hb Sidcup
HbVar.1157 phenoCommon Hemoglobin variant
HbVar.1158 protEffect HBB 44(CD2) Glu>Lys
HbVar.1158 commonName Hb Hornchurch
HbVar.1158 ethnic Caucasian
HbVar.1158 phenoCommon Hemoglobin variant
HbVar.1159 protEffect HBA2 34(B14) Phe>Ser
HbVar.1159 commonName Hb Chartres
HbVar.1159 ethnic French Caucasian
HbVar.1159 phenoCommon Hemoglobin variant
HbVar.1160 protEffect HBB 35(B16) Val>Asp
HbVar.1160 commonName Hb Santander
HbVar.1160 ethnic Spanish
HbVar.1160 phenoCommon Hemoglobin variant
HbVar.1163 commonName -114(C->A)Ggamma; the Algerian nd-HPFH
HbVar.1163 ethnic Algerian
HbVar.1163 phenoCommon HPFH thalassemia
HbVar.1163 hap .----++.
HbVar.1164 protEffect HBB 145 (-A); modified C-terminal sequence: (145)Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH
HbVar.1164 commonName Hb Trento
HbVar.1164 ethnic Italian
HbVar.1164 phenoCommon Hemoglobin variant
HbVar.1165 protEffect HBB 94(F9) Cys>Tyr
HbVar.1165 commonName Hb Fort Dodge
HbVar.1165 ethnic Caucasian
HbVar.1165 phenoCommon Hemoglobin variant
HbVar.1166 protEffect HBA1 45(CE2) Pro>Ala
HbVar.1166 commonName Hb Hagerstown
HbVar.1166 alias Hb Milne
HbVar.1166 ethnic Italian
HbVar.1166 phenoCommon Hemoglobin variant
HbVar.1167 protEffect HBD 58(E1) Asn>Lys
HbVar.1167 commonName Hb A2-Campania
HbVar.1167 ethnic Italian
HbVar.1167 phenoCommon Hemoglobin variant
HbVar.1168 protEffect HBD 89(F4) Leu>Val
HbVar.1168 commonName Hb A2-Lucania
HbVar.1168 ethnic Italian
HbVar.1168 phenoCommon Hemoglobin variant
HbVar.1169 protEffect HBD 105(G6) Arg>Ser
HbVar.1169 commonName Hb A2-Capri
HbVar.1169 ethnic Italian
HbVar.1169 phenoCommon Hemoglobin variant
HbVar.1170 protEffect HBB 87(F2) Ala>Pro
HbVar.1170 commonName Hb Cardarelli
HbVar.1170 ethnic Italian
HbVar.1170 phenoCommon Hemoglobin variant
HbVar.1171 protEffect HBB 6(A2) Pro>Ala
HbVar.1171 commonName Hb Gorwihl
HbVar.1171 alias Hb Hinchingbrooke
HbVar.1171 ethnic German
HbVar.1171 phenoCommon Hemoglobin variant
HbVar.1172 protEffect HBA2 125(H7) Ser>Pro
HbVar.1172 commonName Hb Policoro
HbVar.1172 ethnic Italian
HbVar.1172 phenoCommon Hemoglobin variant
HbVar.1173 protEffect HBB 7(A3) Glu>Val AND HBB 69(E12) Leu>Phe
HbVar.1173 commonName Hb Jamaica Plain
HbVar.1173 ethnic Puerto Rican
HbVar.1173 phenoCommon Hemoglobin variant
HbVar.1174 protEffect HBA2 140(HC1) Lys>Asn
HbVar.1174 commonName Hb Fukui
HbVar.1174 ethnic Japanese
HbVar.1174 phenoCommon Hemoglobin variant
HbVar.1175 protEffect HBA2 Initiation codon Met>Val
HbVar.1175 commonName alpha2 ATG->GTG
HbVar.1175 ethnic Italian
HbVar.1175 phenoCommon alpha-2 thalassemia
HbVar.1176 protEffect HBA1 24(B4) Glu>Stop
HbVar.1176 commonName alpha1 cd23 GAG->TAG
HbVar.1176 ethnic Italian
HbVar.1176 phenoCommon alpha-1 thalassemia
HbVar.1177 commonName alpha2 +832 G->A
HbVar.1177 ethnic Italian
HbVar.1177 ethnic European
HbVar.1177 phenoCommon alpha-2 thalassemia
HbVar.1178 commonName alpha1 +22 T->C
HbVar.1178 ethnic Italian
HbVar.1178 phenoCommon alpha-1 thalassemia
HbVar.1179 commonName -76 (A->T) delta0
HbVar.1179 ethnic Italian
HbVar.1179 phenoCommon delta0 thalassemia
HbVar.1180 commonName delta IVSII-6 T->A
HbVar.1180 ethnic Italian
HbVar.1180 phenoCommon delta+ thalassemia
HbVar.1181 protEffect HBB 78(EF1) His>Leu
HbVar.1181 commonName Hb St. Joseph's
HbVar.1181 ethnic Canadian
HbVar.1181 phenoCommon Hemoglobin variant
HbVar.1182 protEffect HBA1 91(FG2) Lys>Arg
HbVar.1182 commonName Hb Clinico Madrid II
HbVar.1182 ethnic Spanish
HbVar.1182 phenoCommon Hemoglobin variant
HbVar.1183 protEffect HBA2 97(G3) Val>Asp
HbVar.1183 commonName Hb El Escorial
HbVar.1183 ethnic Nigerian
HbVar.1183 phenoCommon Hemoglobin variant
HbVar.1184 protEffect Ala-Leu-Thr-Asn- inserted between codons 69(E17) and 70(E18) of HBA1
HbVar.1184 commonName Hb Esch
HbVar.1184 ethnic Portuguese
HbVar.1184 phenoCommon Hemoglobin variant
HbVar.1185 protEffect HBB 60(E3) Lys>Asn
HbVar.1185 commonName Hb J-Lome
HbVar.1185 ethnic African
HbVar.1185 ethnic Japanese
HbVar.1185 ethnic Vietnamese
HbVar.1185 phenoCommon Hemoglobin variant
HbVar.1186 commonName -31 (A->G) delta+
HbVar.1186 ethnic Italian
HbVar.1186 phenoCommon delta+ thalassemia
HbVar.1187 protEffect HBA2 66(E14) Ala>Thr
HbVar.1187 commonName Hb Part-Dieu
HbVar.1187 ethnic French Caucasian
HbVar.1187 phenoCommon Hemoglobin variant
HbVar.1188 protEffect HBA2 70(E18) Ala>Thr
HbVar.1188 commonName Hb Decines-Charpieu
HbVar.1188 ethnic French Caucasian
HbVar.1188 phenoCommon Hemoglobin variant
HbVar.1189 protEffect HBA1 132(H14) Ser>Phe
HbVar.1189 commonName Hb Lusaka
HbVar.1189 ethnic Zambian
HbVar.1189 phenoCommon Hemoglobin variant
HbVar.1190 protEffect HBA2 43(C7) Tyr>His
HbVar.1190 commonName Hb Barika
HbVar.1190 ethnic Algerian
HbVar.1190 phenoCommon Hemoglobin variant
HbVar.1191 protEffect HBB 67(E10) Lys>Asn
HbVar.1191 commonName Hb Ulm
HbVar.1191 ethnic German
HbVar.1191 phenoCommon Hemoglobin variant
HbVar.1192 commonName Poly A (A->C); AATAAA->AATAAC
HbVar.1192 ethnic Surinam
HbVar.1192 phenoCommon alpha-2 thalassemia
HbVar.1194 commonName -30 (T->C); delta+
HbVar.1194 ethnic Greek
HbVar.1194 phenoCommon delta+ thalassemia
HbVar.1196 commonName IVS II-894 (C->T); delta+
HbVar.1196 ethnic Greek
HbVar.1196 phenoCommon delta+ thalassemia
HbVar.1197 commonName IVS-I 3' AG->AC; delta0
HbVar.1197 ethnic Greek
HbVar.1197 phenoCommon delta0 thalassemia
HbVar.1199 protEffect HBA2 60(E8) Gly>Arg
HbVar.1199 commonName Hb Zurich-Albisrieden
HbVar.1199 ethnic Swiss
HbVar.1199 phenoCommon Hemoglobin variant
HbVar.1200 protEffect HBB 117(+TGAT); modified C-terminal sequence: (117)Leu-Ile-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-Thr-
Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-Gly-
Trp-Cys-Gly-(140)COOH
HbVar.1200 commonName Codon 116 (+TGAT)
HbVar.1200 phenoCommon beta0 thalassemia
HbVar.1201 protEffect HBB 104(G5) Phe>Val
HbVar.1201 commonName Hb Sparta
HbVar.1201 ethnic Caucasian
HbVar.1201 phenoCommon Hemoglobin variant
HbVar.1202 protEffect HBB 30(B11) Gly>Ser
HbVar.1202 commonName Hb Tizi-Ouzou
HbVar.1202 ethnic Algerian
HbVar.1202 phenoCommon Hemoglobin variant
HbVar.1203 protEffect HBB 27(B8) Glu>Ala
HbVar.1203 commonName Hb Tripoli
HbVar.1203 ethnic Libyan
HbVar.1203 phenoCommon Hemoglobin variant
HbVar.1204 protEffect HBB 117(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 116(G17) and 118(G19) of HBB
HbVar.1204 commonName Hb Antibes-Juan-Les-Pins
HbVar.1204 ethnic French Caucasian
HbVar.1204 phenoCommon Hemoglobin variant
HbVar.1205 protEffect HBA1 94(FG5) Val>Ala
HbVar.1205 commonName Hb Die
HbVar.1205 ethnic French
HbVar.1205 phenoCommon Hemoglobin variant
HbVar.1207 protEffect HBA1 100(G6) Lys>Asn
HbVar.1207 commonName Hb Beziers
HbVar.1207 alias Hb Harlow
HbVar.1207 ethnic French Caucasian
HbVar.1207 phenoCommon Hemoglobin variant
HbVar.1208 protEffect HBG1 137(H14) Ala>Gly
HbVar.1208 commonName Hb F-Charlotte
HbVar.1208 ethnic African-American
HbVar.1208 phenoCommon Hemoglobin variant
HbVar.1209 protEffect HBB 7(A3) Glu>Val AND HBB 91(F6) Glu>Lys
HbVar.1209 commonName Hb S-Cameroon
HbVar.1209 ethnic Cameroonian
HbVar.1209 phenoCommon Hemoglobin variant
HbVar.1210 protEffect HBB 10(A6) Ser>Tyr
HbVar.1210 commonName Hb Brem-sur-Mer
HbVar.1210 ethnic French Caucasian
HbVar.1210 phenoCommon Hemoglobin variant
HbVar.1211 protEffect HBA2 82(F2) Ser>Pro
HbVar.1211 commonName Hb Passy
HbVar.1211 ethnic Turkish
HbVar.1211 phenoCommon Hemoglobin variant
HbVar.1212 protEffect HBD 134(H11) Val>Ala
HbVar.1212 commonName Hb A2-Ninive
HbVar.1212 ethnic Iraqi
HbVar.1212 phenoCommon Hemoglobin variant
HbVar.1213 protEffect HBB 142 (-C); modified C-terminal sequence: (142)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe- Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.1213 commonName Hb Florida
HbVar.1213 ethnic Argentine
HbVar.1213 phenoCommon Thalassemia
HbVar.1214 protEffect HBB 7(A3) Glu>Val AND HBB 133(H10) Lys>Asn
HbVar.1214 commonName Hb S-South End
HbVar.1214 phenoCommon Hemoglobin variant
HbVar.1215 protEffect HBA1 31(B11) Glu>Val
HbVar.1215 commonName Hb Itapira
HbVar.1215 ethnic Brazilian
HbVar.1215 phenoCommon Hemoglobin variant
HbVar.1216 protEffect HBA1 31(B11) Glu>Ala
HbVar.1216 commonName Hb Bom Jesus da Lapa
HbVar.1216 ethnic Brazilian
HbVar.1216 phenoCommon Hemoglobin variant
HbVar.1217 protEffect HBA2 17(A14) Lys>Thr
HbVar.1217 commonName Hb Boa Esperanca
HbVar.1217 ethnic Brazilian
HbVar.1217 phenoCommon Hemoglobin variant
HbVar.1218 protEffect HBG1 137(H14) Ala>Ser
HbVar.1218 commonName Hb F-Porto Torres
HbVar.1218 ethnic Sardinian
HbVar.1218 phenoCommon Hemoglobin variant
HbVar.1219 protEffect HBB 71(E14) Ala>Gly
HbVar.1219 commonName Hb Hershey
HbVar.1219 ethnic Sicilian
HbVar.1219 phenoCommon Hemoglobin variant
HbVar.1220 protEffect HBB 71(E14) Ala>Pro
HbVar.1220 commonName Hb Abington
HbVar.1220 phenoCommon Hemoglobin variant
HbVar.1221 protEffect HBB 119 (-T); modified C-terminal sequence: (119)Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg- Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp- Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys- Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.1221 commonName Hb Sainte Seve
HbVar.1221 ethnic French Caucasian
HbVar.1221 phenoCommon Thalassemia
HbVar.1222 protEffect HBB 58(E1) Asn>Thr
HbVar.1222 commonName Hb Viseu
HbVar.1222 ethnic Portuguese
HbVar.1222 phenoCommon Hemoglobin variant
HbVar.1223 protEffect HBA2 77(EF5) Met>Ile
HbVar.1223 commonName Hb Hellux
HbVar.1223 ethnic Greek
HbVar.1223 phenoCommon Hemoglobin variant
HbVar.1224 protEffect HBA1 105(G11) Cys>Ser
HbVar.1224 commonName Hb Oegstgeest
HbVar.1224 ethnic Surinam
HbVar.1224 phenoCommon Hemoglobin variant
HbVar.1225 protEffect HBB 95(FG1) Asp>Tyr
HbVar.1225 commonName Hb Geldrop St Anna
HbVar.1225 ethnic Dutch
HbVar.1225 phenoCommon Hemoglobin variant
HbVar.1226 protEffect HBA2 126(H8) Leu>Arg
HbVar.1226 commonName Hb Plasencia
HbVar.1226 ethnic Spanish
HbVar.1226 phenoCommon Hemoglobin variant
HbVar.1227 protEffect HBB 48(CD6) Asp>His
HbVar.1227 commonName Hb Maryland
HbVar.1227 phenoCommon Hemoglobin variant
HbVar.1228 protEffect HBB 38(C3) Trp>Cys
HbVar.1228 commonName Hb Kent
HbVar.1228 phenoCommon Hemoglobin variant
HbVar.1229 protEffect HBB 137(H14) Gly>Cys
HbVar.1229 commonName Hb Visayan
HbVar.1229 ethnic Filipino
HbVar.1229 phenoCommon Hemoglobin variant
HbVar.1230 protEffect HBB 139(H16) Ala>Val
HbVar.1230 commonName Hb Cutlerville
HbVar.1230 ethnic Caucasian
HbVar.1230 phenoCommon Hemoglobin variant
HbVar.1231 protEffect HBB 142(H19) Leu>Val AND HBB 145(HC1) Lys-Tyr-His->0
HbVar.1231 commonName Hb Kochi
HbVar.1231 ethnic Japanese
HbVar.1231 phenoCommon Hemoglobin variant
HbVar.1232 protEffect HBB 24(B5) Val>Ala
HbVar.1232 commonName Hb Zoeterwoude
HbVar.1232 ethnic Dutch
HbVar.1232 phenoCommon Hemoglobin variant
HbVar.1233 protEffect HBA1 52(CE9) Gly>Ser
HbVar.1233 commonName Hb Riccarton
HbVar.1233 ethnic Caucasian
HbVar.1233 phenoCommon Hemoglobin variant
HbVar.1234 protEffect HBB 144(H21) His>Leu
HbVar.1234 commonName Hb Vancleave
HbVar.1234 phenoCommon Hemoglobin variant
HbVar.1235 protEffect HBA2 33(B13) Met>Ile
HbVar.1235 commonName Hb Amsterdam
HbVar.1235 ethnic Surinam
HbVar.1235 phenoCommon Thalassemia
HbVar.1236 protEffect HBB 83(EF6) Lys>Arg
HbVar.1236 commonName Hb Taradale
HbVar.1236 alias Hb Middlesbrough
HbVar.1236 alias Hb Keystone
HbVar.1236 phenoCommon Hemoglobin variant
HbVar.1237 protEffect HBB 138(H15) - 140(H17) Val-Ala-Asn->0 AND inserted Asp
HbVar.1237 commonName Hb Stara Zagora
HbVar.1237 ethnic Bulgarian
HbVar.1237 phenoCommon Thalassemia
HbVar.1238 protEffect HBD 60(E3) Lys>Asn
HbVar.1238 commonName Hb A2-Pasteur-Tunis
HbVar.1238 ethnic Tunisian
HbVar.1238 phenoCommon Hemoglobin variant
HbVar.1239 protEffect HBA1 or HBA2 10(A7) Asn>Thr
HbVar.1239 commonName Hb Broomfield
HbVar.1239 phenoCommon Hemoglobin variant
HbVar.1240 protEffect HBA1 or HBA2 14(A11) Ala>Pro
HbVar.1240 commonName Hb Ravenscourt Park
HbVar.1240 ethnic Jamaican
HbVar.1240 ethnic Cuban
HbVar.1240 phenoCommon Hemoglobin variant
HbVar.1241 protEffect HBA1 or HBA2 28(B8) Glu>Ala
HbVar.1241 commonName Hb Hackney
HbVar.1241 alias Hb Xu Chang
HbVar.1241 phenoCommon Hemoglobin variant
HbVar.1242 protEffect HBA1 or HBA2 39(C3) Thr>Ile
HbVar.1242 commonName Hb Chelsea
HbVar.1242 phenoCommon Hemoglobin variant
HbVar.1243 protEffect HBA1 or HBA2 51(CE8) His>Leu
HbVar.1243 commonName Hb Dublin
HbVar.1243 ethnic Dominican
HbVar.1243 ethnic European
HbVar.1243 phenoCommon Hemoglobin variant
HbVar.1244 protEffect HBA1 or HBA2 77(EF5) Met>Arg
HbVar.1244 commonName Hb Walpole
HbVar.1244 phenoCommon Hemoglobin variant
HbVar.1246 protEffect HBB 7(A3) Glu>Lys AND HBB 84(EF7) Gly>Asp
HbVar.1246 commonName Hb C-New Cross
HbVar.1246 ethnic Nigerian
HbVar.1246 phenoCommon Hemoglobin variant
HbVar.1247 protEffect HBB 102(G3) Glu>Ala
HbVar.1247 commonName Hb Youngstown
HbVar.1247 alias Hb St Mary's
HbVar.1247 phenoCommon Hemoglobin variant
HbVar.1248 protEffect HBD 14(A10) Ala>Asp
HbVar.1248 commonName Hb A2-MUMC
HbVar.1248 alias Hb A2-Corleone
HbVar.1248 ethnic Sicilian
HbVar.1248 phenoCommon Hemoglobin variant
HbVar.1249 protEffect HBB 75(E18) Gly>Ser
HbVar.1249 commonName Hb Kokomo
HbVar.1249 phenoCommon Hemoglobin variant
HbVar.1250 protEffect HBA2 76(EF4) Asp>Val
HbVar.1250 commonName Hb Al-Hammadi Riyadh
HbVar.1250 ethnic Saudi Arabian
HbVar.1250 phenoCommon Hemoglobin variant
HbVar.1251 protEffect HBB 139(H16) Ala>Thr
HbVar.1251 commonName Hb Buzen
HbVar.1251 ethnic Japanese
HbVar.1251 phenoCommon Hemoglobin variant
HbVar.1254 commonName Ti~
HbVar.1254 phenoCommon Thalassemia
HbVar.1255 protEffect HBA2 41(C5) Lys>Gln
HbVar.1255 commonName Hb Linwood
HbVar.1255 phenoCommon Hemoglobin variant
HbVar.1256 protEffect HBB 71(E14) Ala>Val
HbVar.1256 commonName Hb Marineo
HbVar.1256 ethnic Sicilian
HbVar.1256 phenoCommon Hemoglobin variant
HbVar.1257 protEffect HBB 9(A5) Lys>Arg
HbVar.1257 commonName Hb Lucknow
HbVar.1257 ethnic Indian
HbVar.1257 phenoCommon Hemoglobin variant
HbVar.2501 protEffect HBA2 25(B5) Tyr>Asp
HbVar.2501 commonName Hb Creve Coeur
HbVar.2501 ethnic North European
HbVar.2501 phenoCommon Hemoglobin variant
HbVar.2502 protEffect HBA1 69(E17) Asn>His
HbVar.2502 commonName Hb Jeddah
HbVar.2502 ethnic Saudi Arabian
HbVar.2502 ethnic Yemenite
HbVar.2502 phenoCommon Hemoglobin variant
HbVar.2503 protEffect HBA1 131(H13) Ala>Val
HbVar.2503 commonName Hb Westborough
HbVar.2503 ethnic Indian
HbVar.2503 phenoCommon Hemoglobin variant
HbVar.2504 protEffect HBA1 83(F3) - 85(F5) Ala-Leu-Ser->0
HbVar.2504 commonName Codons 82/83/84 del 5bp insertion
HbVar.2504 ethnic Portuguese
HbVar.2504 phenoCommon alpha-1 thalassemia
HbVar.2508 commonName IVS II-761 A>G
HbVar.2508 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2509 commonName 5'UTR; +20 (C>T) beta+
HbVar.2509 phenoCommon beta+ thalassemia
HbVar.2510 protEffect HBB 132 - 133 (-GA); modified C-terminal sequence: (132)Gln-Ser-Gly-Gly-Trp-Cys-(138)Gly-COOH
HbVar.2510 commonName Codons 131/132 (-GA)
HbVar.2510 phenoCommon beta0 thalassemia
HbVar.2511 protEffect HBB 92 (-T); modified C-terminal sequence
HbVar.2511 commonName Hb MorganTown
HbVar.2511 alias beta91 CTG>CG
HbVar.2511 ethnic Irish
HbVar.2511 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2512 commonName Cretan HPFH
HbVar.2512 alias Agamma -158 C>T
HbVar.2512 ethnic Greek
HbVar.2512 phenoCommon HPFH thalassemia
HbVar.2513 commonName Venezuelan nd-HPFH
HbVar.2513 alias Agamma -211 C>T
HbVar.2513 ethnic Black
HbVar.2513 phenoCommon HPFH thalassemia
HbVar.2514 protEffect HBA2 23(B3) Gly>Gly
HbVar.2514 commonName Codon 22 C>T
HbVar.2514 ethnic Surinam
HbVar.2514 phenoCommon alpha-2 thalassemia
HbVar.2515 protEffect HBA1 15(A12) Trp>Stop
HbVar.2515 commonName Codon 14 G>A
HbVar.2515 ethnic Iranian
HbVar.2515 phenoCommon alpha-1 thalassemia
HbVar.2516 protEffect HBA2 19 (-G); modified C-terminal sequence: (19)Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH
HbVar.2516 commonName Codon 19 (-G)
HbVar.2516 ethnic Iranian
HbVar.2516 phenoCommon alpha-2 thalassemia
HbVar.2517 commonName -93 C>G
HbVar.2517 ethnic Surinam
HbVar.2517 phenoCommon beta+ thalassemia
HbVar.2518 protEffect HBB 5(A1) Thr>Asn
HbVar.2518 commonName Hb Wurzburg
HbVar.2518 ethnic German
HbVar.2518 phenoCommon Hemoglobin variant
HbVar.2519 protEffect HBA2 104(G10) His>Leu
HbVar.2519 commonName Hb Bronovo
HbVar.2519 ethnic Turkish
HbVar.2519 phenoCommon Hemoglobin variant
HbVar.2520 protEffect HBB 7(A3) Glu>Val AND HBB 38(C3) Trp>Gly
HbVar.2520 commonName Hb C-Ndjamena
HbVar.2520 ethnic Chadian
HbVar.2520 phenoCommon Hemoglobin variant
HbVar.2522 commonName IVS II-2 (T>A)
HbVar.2522 phenoCommon alpha-2 thalassemia
HbVar.2526 protEffect HBG2 21(B2) Val>Ala
HbVar.2526 commonName Hb F-Bron
HbVar.2526 phenoCommon Hemoglobin variant
HbVar.2527 commonName IVS-I-129 (A>G)
HbVar.2527 ethnic German
HbVar.2527 phenoCommon beta0 thalassemia
HbVar.2528 protEffect HBB 60(E3) Lys>Stop
HbVar.2528 commonName Cd59 (AAG>TAG)
HbVar.2528 phenoCommon beta0 thalassemia
HbVar.2529 protEffect HBB 38(C3) Trp>Stop
HbVar.2529 commonName Cd37 (TGG>TAG)
HbVar.2529 ethnic Afghan
HbVar.2529 phenoCommon beta0 thalassemia
HbVar.2529 phenoCommon moderate Splenomegaly
HbVar.2530 protEffect HBB Initiation codon Met>Lys
HbVar.2530 commonName Initiation codon T>A
HbVar.2530 ethnic French Caucasian
HbVar.2530 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2531 protEffect HBA2 24(B4) Glu>Stop
HbVar.2531 commonName Cd23 (GAG>TAG)
HbVar.2531 ethnic Tunisian
HbVar.2531 phenoCommon alpha-2 thalassemia
HbVar.2532 protEffect HBA2 91(FG2) Lys>Stop
HbVar.2532 commonName Cd90 (AAG>TAG)
HbVar.2532 ethnic Macedonian
HbVar.2532 phenoCommon alpha (1 or 2 unclear) thalassemia
HbVar.2533 protEffect HBB 78 (-C); modified C-terminal sequence
HbVar.2533 commonName Cd77/78 (-C)
HbVar.2533 ethnic Mexican
HbVar.2533 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2534 commonName IVS-II-2 (T>A)
HbVar.2534 ethnic Turkish
HbVar.2534 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2535 commonName -25 (G>C)
HbVar.2535 ethnic African-American
HbVar.2535 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2536 commonName -32 (C>T)
HbVar.2536 ethnic Hispanic
HbVar.2536 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2537 commonName -27 (-AA)
HbVar.2537 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2538 protEffect HBB 77 (-GC); modified C-terminal sequence
HbVar.2538 commonName Cd76 (-GC)
HbVar.2538 ethnic North African
HbVar.2538 phenoCommon beta0 thalassemia
HbVar.2539 protEffect HBA2 109(G15) Thr>Asn
HbVar.2539 commonName Hb Bleuland
HbVar.2539 ethnic Surinam
HbVar.2539 phenoCommon Hemoglobin variant
HbVar.2540 protEffect HBB 39(C4) Thr>Ile
HbVar.2540 commonName Hb La Coruna
HbVar.2540 ethnic Spanish
HbVar.2540 phenoCommon Hemoglobin variant
HbVar.2541 protEffect HBA2 5(A2) Pro>His
HbVar.2541 commonName Hb Bellevue
HbVar.2541 phenoCommon Hemoglobin variant
HbVar.2542 protEffect HBB 33(B14) Leu>Gln
HbVar.2542 commonName Hb Clermont Ferrand
HbVar.2542 ethnic Vietnamese
HbVar.2542 phenoCommon Hemoglobin variant
HbVar.2543 protEffect HBB 51(D1) Thr>Ser
HbVar.2543 commonName Hb Zurich-Langstrasse
HbVar.2543 ethnic Sicilian
HbVar.2543 phenoCommon Hemoglobin variant
HbVar.2545 commonName Hb Jambol
HbVar.2545 ethnic Bulgarian
HbVar.2545 phenoCommon Thalassemia
HbVar.2546 protEffect HBB 119(GH1) Phe>Val
HbVar.2546 commonName Hb Sodertalje
HbVar.2546 ethnic Swedish
HbVar.2546 phenoCommon Hemoglobin variant
HbVar.2548 protEffect HBB 133(H10) Lys>Stop
HbVar.2548 commonName Cd132A>T
HbVar.2548 ethnic Ghanaian
HbVar.2548 phenoCommon beta0 thalassemia
HbVar.2550 protEffect HBD 3(NA2) His>Leu
HbVar.2550 commonName Hb A2-Catania
HbVar.2550 ethnic Sicilian
HbVar.2550 phenoCommon Hemoglobin variant
HbVar.2554 protEffect HBD 71(E14) Ala>Gly
HbVar.2554 commonName Hb A2-Ventimiglia
HbVar.2554 ethnic Sicilian
HbVar.2554 phenoCommon Hemoglobin variant
HbVar.2555 protEffect HBD 88(F3) Gln>Lys
HbVar.2555 commonName Hb A2-Montechiaro
HbVar.2555 ethnic Sicilian
HbVar.2555 phenoCommon Hemoglobin variant
HbVar.2556 protEffect HBD 141(H18) Ala>Val
HbVar.2556 commonName Hb A2-Bagheria
HbVar.2556 ethnic Sicilian
HbVar.2556 phenoCommon Hemoglobin variant
HbVar.2557 protEffect HBB 81(EF4) Asn>Tyr
HbVar.2557 commonName Hb Hounslow
HbVar.2557 ethnic Afghan
HbVar.2557 phenoCommon Hemoglobin variant
HbVar.2558 protEffect HBB 85(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (85)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Pro-Leu-Pro-His-(110)COOH
HbVar.2558 commonName Codon 84 (65bp duplication)
HbVar.2558 ethnic African
HbVar.2558 phenoCommon beta0 thalassemia
HbVar.2563 protEffect HBA2 95(G1) Asp>Val
HbVar.2563 commonName Hb Kirksey
HbVar.2563 ethnic Caucasian
HbVar.2563 phenoCommon Hemoglobin variant
HbVar.2565 protEffect HBA2 135(H17) Thr>Ala
HbVar.2565 commonName Hb Brunswick
HbVar.2565 ethnic Caucasian
HbVar.2565 phenoCommon Hemoglobin variant
HbVar.2566 protEffect HBA1 136(H18) Val>Met
HbVar.2566 commonName Hb Trenton
HbVar.2566 phenoCommon Hemoglobin variant
HbVar.2567 protEffect HBA2 139(H21) Ser>Phe
HbVar.2567 commonName Hb Frauenfeld
HbVar.2567 ethnic Caucasian
HbVar.2567 phenoCommon Hemoglobin variant
HbVar.2569 protEffect HBA2 136(H18) Val>Leu
HbVar.2569 commonName Hb Tottenham
HbVar.2569 ethnic British
HbVar.2569 phenoCommon Hemoglobin variant
HbVar.2570 protEffect HBA2 36(B16) Ser>Pro
HbVar.2570 commonName Hb Evora
HbVar.2570 ethnic Portuguese
HbVar.2570 phenoCommon Hemoglobin variant
HbVar.2571 commonName IVS II-726 (A>G)
HbVar.2571 ethnic Moroccan
HbVar.2571 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2571 phenoCommon moderate Splenomegaly
HbVar.2572 commonName IVS I-7 (A>T)
HbVar.2572 ethnic Italian
HbVar.2572 phenoCommon beta+ thalassemia
HbVar.2573 commonName IVS II-2 (T>C)
HbVar.2573 ethnic Indian
HbVar.2573 phenoCommon beta+ thalassemia
HbVar.2574 protEffect HBB 105 (-G); modified C-terminal sequence: (105)Arg-Leu-Leu-Gly-Asn-Val-Leu-Val-Cys-Val-
Leu-Ala-His-His-Phe-Gly-Lys-Glu-Phe-Thr-
Pro-Pro-Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-
Val-Ala-Gly-Val-Ala-Asn-Ala-Leu-Ala-His-
Lys-Tyr-His-(147)COOH
HbVar.2574 commonName Codon 104 (-G)
HbVar.2574 ethnic German
HbVar.2574 phenoCommon beta0 thalassemia
HbVar.2575 protEffect HBA2 50 (-GC); modified C-terminal sequence: (50)Thr-Arg-Leu-Cys-Pro-Gly-(55)COOH
HbVar.2575 commonName Codon 49 (-GC)
HbVar.2575 phenoCommon alpha-2 thalassemia
HbVar.2576 protEffect HBD 8(A4) Glu>Ala
HbVar.2576 commonName Hb A2-Udine
HbVar.2576 ethnic Italian
HbVar.2576 phenoCommon Hemoglobin variant
HbVar.2577 protEffect HBA2 2(NA1) Val>Met
HbVar.2577 commonName Hb A2-Fontanabuona
HbVar.2577 ethnic Italian
HbVar.2577 phenoCommon Hemoglobin variant
HbVar.2578 protEffect HBA1 7(A4) Asp>His
HbVar.2578 commonName Hb Galliera I
HbVar.2578 ethnic Italian
HbVar.2578 phenoCommon Hemoglobin variant
HbVar.2579 protEffect HBA2 7(A4) Asp>His
HbVar.2579 commonName Hb Galliera II
HbVar.2579 ethnic Italian
HbVar.2579 phenoCommon Hemoglobin variant
HbVar.2580 protEffect HBB 7(A3) Glu>Gly
HbVar.2580 commonName Hb Lavagna
HbVar.2580 ethnic Italian
HbVar.2580 phenoCommon Hemoglobin variant
HbVar.2581 protEffect HBA1 60(E8) Gly>Ser
HbVar.2581 commonName Hb Parma
HbVar.2581 ethnic Italian
HbVar.2581 phenoCommon Hemoglobin variant
HbVar.2582 protEffect HBA1 41(C5) Lys>Thr
HbVar.2582 commonName Hb Pisa
HbVar.2582 ethnic Italian
HbVar.2582 phenoCommon Hemoglobin variant
HbVar.2583 protEffect HBB 117(G18) His>Arg
HbVar.2583 commonName Hb Sfax
HbVar.2583 ethnic Tunisian
HbVar.2583 phenoCommon Hemoglobin variant
HbVar.2584 protEffect HBB 87(F2) Ala>Ile
HbVar.2584 commonName Hb Nebraska
HbVar.2584 ethnic Caucasian
HbVar.2584 phenoCommon Hemoglobin variant
HbVar.2585 protEffect HBA1 92(FG3) Leu>Phe
HbVar.2585 commonName Hb Vientiane
HbVar.2585 ethnic Laotian
HbVar.2585 phenoCommon Hemoglobin variant
HbVar.2586 protEffect HBA1 139(H21) Ser>Cys
HbVar.2586 commonName Hb Ecuador
HbVar.2586 phenoCommon Hemoglobin variant
HbVar.2587 protEffect HBA2 15(A12) Trp>Cys
HbVar.2587 commonName Hb Bladensburg
HbVar.2587 ethnic Nigerian
HbVar.2587 phenoCommon Hemoglobin variant
HbVar.2588 protEffect HBB 4(NA3) Leu>Gln
HbVar.2588 commonName Hb Santo Domingo
HbVar.2588 ethnic Dominican
HbVar.2588 phenoCommon Hemoglobin variant
HbVar.2589 protEffect HBB 11(A7) Ala>Thr
HbVar.2589 commonName Hb Belleville
HbVar.2589 phenoCommon Hemoglobin variant
HbVar.2590 protEffect HBB 46(CD4) Phe>Tyr
HbVar.2590 commonName Hb Den Haag
HbVar.2590 ethnic Scandinavian
HbVar.2590 phenoCommon Hemoglobin variant
HbVar.2591 protEffect HBA2 69(E17) Asn>His
HbVar.2591 commonName Hb St. Truiden
HbVar.2591 ethnic Belgian
HbVar.2591 phenoCommon Hemoglobin variant
HbVar.2592 protEffect HBA2 126(H8) Leu>Gln
HbVar.2592 commonName Hb West-Einde
HbVar.2592 ethnic Turkish
HbVar.2592 phenoCommon Hemoglobin variant
HbVar.2594 protEffect HBA1 10(A7) Asn>Ser
HbVar.2594 commonName Hb Anadour
HbVar.2594 ethnic Moroccan
HbVar.2594 phenoCommon Hemoglobin variant
HbVar.2595 protEffect HBA2 37(C1) Phe>Leu
HbVar.2595 commonName Hb Geisinger
HbVar.2595 ethnic African-American
HbVar.2595 phenoCommon Hemoglobin variant
HbVar.2596 protEffect HBA1 71(E19) Val>Met
HbVar.2596 commonName Hb Haaksbergen
HbVar.2596 ethnic Dutch
HbVar.2596 phenoCommon Hemoglobin variant
HbVar.2597 commonName IVS I-1 (G>T)
HbVar.2597 ethnic Italian
HbVar.2597 phenoCommon alpha-2 thalassemia
HbVar.2598 commonName IVS I-5 (G>A)
HbVar.2598 ethnic Ashkenazi Jews
HbVar.2598 phenoCommon alpha-2 thalassemia
HbVar.2600 commonName IVS I-55 G>A
HbVar.2600 ethnic Hindu
HbVar.2600 phenoCommon alpha-2 thalassemia
HbVar.2601 commonName -56 (G>C)
HbVar.2601 ethnic Moroccan
HbVar.2601 phenoCommon Thalassemia
HbVar.2602 commonName IVS II-1 (G>T)
HbVar.2602 ethnic Surinam
HbVar.2602 phenoCommon beta0 thalassemia
HbVar.2603 protEffect HBB 107(G8) Leu>Val
HbVar.2603 commonName Hb L'Aquila
HbVar.2603 ethnic Italian
HbVar.2603 phenoCommon Hemoglobin variant
HbVar.2604 protEffect HBB 57(D7) Gly>Cys
HbVar.2604 commonName Hb Leeds
HbVar.2604 ethnic Pakistani
HbVar.2604 phenoCommon Hemoglobin variant
HbVar.2605 protEffect HBA2 2(NA1) Val>Leu
HbVar.2605 commonName Hb St.Jozef
HbVar.2605 ethnic Moroccan
HbVar.2605 phenoCommon Hemoglobin variant
HbVar.2606 protEffect HBA2 22(B2) Ala>Ser
HbVar.2606 commonName Hb Zoetermeer
HbVar.2606 ethnic Dutch
HbVar.2606 phenoCommon Hemoglobin variant
HbVar.2607 protEffect HBA1 56(E4) Val>Ala
HbVar.2607 commonName Hb Gerland 1
HbVar.2607 ethnic Southeast Asian
HbVar.2607 phenoCommon Hemoglobin variant
HbVar.2608 protEffect HBA1 83(F3) Ala>Thr
HbVar.2608 commonName Hb Hagley Park
HbVar.2608 ethnic New Zealand
HbVar.2608 phenoCommon Hemoglobin variant
HbVar.2609 protEffect HBA1 124(H6) Ala>Pro
HbVar.2609 commonName Hb Voreppe
HbVar.2609 ethnic French Caucasian
HbVar.2609 phenoCommon Thalassemia
HbVar.2610 protEffect HBA2 8(A5) Lys>Arg
HbVar.2610 commonName Hb Guanajuato
HbVar.2610 ethnic Mexican
HbVar.2610 phenoCommon Hemoglobin variant
HbVar.2611 protEffect HBA1 30(B10) Leu>Val
HbVar.2611 commonName Hb Kosovo
HbVar.2611 ethnic Yugoslavian
HbVar.2611 phenoCommon Hemoglobin variant
HbVar.2612 protEffect HBA2 118(GH5) Phe>Ile
HbVar.2612 commonName Hb Ambroise Pare
HbVar.2612 ethnic French Caucasian
HbVar.2612 phenoCommon Hemoglobin variant
HbVar.2613 protEffect HBA1 88(F8) His>Asp
HbVar.2613 commonName Hb Bonn
HbVar.2613 phenoCommon Hemoglobin variant
HbVar.2614 commonName IVS I-5 G>A
HbVar.2614 ethnic African
HbVar.2614 phenoCommon alpha-1 thalassemia
HbVar.2615 protEffect HBD 5(A1) Thr>Ser
HbVar.2615 commonName Hb A2-Acacias
HbVar.2615 ethnic Mediterranean
HbVar.2615 phenoCommon Hemoglobin variant
HbVar.2616 protEffect HBB 85(EF8) Thr>Asn
HbVar.2616 commonName Hb Beaujolais
HbVar.2616 ethnic French Caucasian
HbVar.2616 phenoCommon Hemoglobin variant
HbVar.2617 protEffect HBG2 98(FG4) His>Arg
HbVar.2617 commonName Hb F-Lyon
HbVar.2617 ethnic French Caucasian
HbVar.2617 phenoCommon Hemoglobin variant
HbVar.2618 protEffect HBG2 80(EF3) Asp>His
HbVar.2618 commonName Hb F-Saint-Etienne
HbVar.2618 phenoCommon Hemoglobin variant
HbVar.2619 protEffect HBB 118(G19) His>Asp
HbVar.2619 commonName Hb North York
HbVar.2619 ethnic Iranian
HbVar.2619 phenoCommon Hemoglobin variant
HbVar.2620 protEffect HBA2 44(CE1) Phe>Ile
HbVar.2620 commonName Hb Sens
HbVar.2620 ethnic French Caucasian
HbVar.2620 phenoCommon Hemoglobin variant
HbVar.2621 protEffect HBA2 41(C5) Lys>Asn
HbVar.2621 commonName Hb Villiers le Bel
HbVar.2621 ethnic French Caucasian
HbVar.2621 phenoCommon Hemoglobin variant
HbVar.2622 protEffect HBA1 132 (-T); modified C-terminal sequence: (132)Ser-(132)COOH
HbVar.2622 commonName Hb Fez
HbVar.2622 ethnic Moroccan
HbVar.2622 phenoCommon Hemoglobin variant
HbVar.2623 protEffect HBA1 135 (-C); modified C-terminal sequence: (135)Thr-Cys-(136)COOH
HbVar.2623 commonName Hb Senlis
HbVar.2623 ethnic French Caucasian
HbVar.2623 phenoCommon Hemoglobin variant
HbVar.2624 protEffect HBA2 78(EF6) Pro>Leu
HbVar.2624 commonName Hb Asklipios
HbVar.2624 ethnic Greek
HbVar.2624 phenoCommon Hemoglobin variant
HbVar.2625 protEffect HBD 60(E3) Lys>Met
HbVar.2625 commonName Hb A2-North Africa
HbVar.2625 ethnic Moroccan
HbVar.2625 phenoCommon Hemoglobin variant
HbVar.2626 protEffect HBA1 86(F6) Asp>His
HbVar.2626 commonName Hb Canuts
HbVar.2626 ethnic French Caucasian
HbVar.2626 phenoCommon Hemoglobin variant
HbVar.2627 protEffect HBA2 53(E1) Ser>Phe
HbVar.2627 commonName Hb Essex
HbVar.2627 ethnic British
HbVar.2627 phenoCommon Hemoglobin variant
HbVar.2628 protEffect HBB 53(D3) Asp>Tyr
HbVar.2628 commonName Hb Languidic
HbVar.2628 ethnic French Caucasian
HbVar.2628 phenoCommon Hemoglobin variant
HbVar.2629 protEffect HBG2 103(G4) Asn>Thr
HbVar.2629 commonName Hb F-Sarajevo
HbVar.2629 ethnic Bosnian
HbVar.2629 phenoCommon Hemoglobin variant
HbVar.2631 protEffect HBB 24(B5) Val>Ile
HbVar.2631 commonName Hb Saveh
HbVar.2631 ethnic Iranian
HbVar.2631 phenoCommon Hemoglobin variant
HbVar.2632 protEffect HBA1 138(H20) Thr>Pro
HbVar.2632 commonName Hb Verona
HbVar.2632 ethnic Italian
HbVar.2632 phenoCommon Hemoglobin variant
HbVar.2633 protEffect HBB 148(+TA); modified C-terminal sequence: (148)Tyr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-
Tyr-(158)COOH
HbVar.2633 commonName Hb Monplaisir
HbVar.2633 ethnic Spanish
HbVar.2633 phenoCommon Hemoglobin variant
HbVar.2634 protEffect HBA1 or HBA2 47(CE4) Phe>Val
HbVar.2634 commonName Hb Hillingdon
HbVar.2634 phenoCommon Hemoglobin variant
HbVar.2635 protEffect HBA1 or HBA2 4(A1) Ser>Pro
HbVar.2635 commonName Hb Central Middlesex
HbVar.2635 ethnic British
HbVar.2635 phenoCommon Hemoglobin variant
HbVar.2636 protEffect HBA1 or HBA2 49(CE6) Leu>Pro
HbVar.2636 commonName Hb Reading
HbVar.2636 ethnic British
HbVar.2636 phenoCommon Hemoglobin variant
HbVar.2637 protEffect HBA1 or HBA2 91(FG2) Lys>Glu
HbVar.2637 commonName Hb Sudbury
HbVar.2637 ethnic Asian
HbVar.2637 phenoCommon Hemoglobin variant
HbVar.2638 protEffect HBA1 107(G13) Leu>Pro
HbVar.2638 commonName Hb Charlieu
HbVar.2638 ethnic French Caucasian
HbVar.2638 phenoCommon Hemoglobin variant
HbVar.2639 protEffect HBA1 or HBA2 89(F9) Ala>Glu
HbVar.2639 commonName Hb Wroclaw
HbVar.2639 ethnic Polish
HbVar.2639 phenoCommon Hemoglobin variant
HbVar.2640 protEffect HBA1 or HBA2 99(G5) Phe>Tyr
HbVar.2640 commonName Hb Mill Hill
HbVar.2640 ethnic Black
HbVar.2640 phenoCommon Hemoglobin variant
HbVar.2641 protEffect HBA1 2(NA1) Val>Leu
HbVar.2641 commonName Hb Baldock
HbVar.2641 ethnic British
HbVar.2641 phenoCommon Hemoglobin variant
HbVar.2642 protEffect HBA2 115(GH2) Pro>Thr
HbVar.2642 commonName Hb Jura
HbVar.2642 alias Hb Bamako
HbVar.2642 ethnic French Caucasian
HbVar.2642 ethnic West African
HbVar.2642 phenoCommon Hemoglobin variant
HbVar.2643 protEffect HBA2 5(A2) Pro>Arg
HbVar.2643 commonName Hb Goree
HbVar.2643 ethnic West African
HbVar.2643 phenoCommon Hemoglobin variant
HbVar.2644 protEffect HBB 136(H13) Ala>Val
HbVar.2644 commonName Hb Alperton
HbVar.2644 ethnic Indian
HbVar.2644 phenoCommon Hemoglobin variant
HbVar.2645 protEffect HBA2 85(F5) Ser>Asn
HbVar.2645 commonName Hb Meulan
HbVar.2645 ethnic Sicilian
HbVar.2645 phenoCommon Hemoglobin variant
HbVar.2647 protEffect HBB 134(H11) Val>Met
HbVar.2647 commonName Hb La Pommeraie
HbVar.2647 ethnic French Caucasian
HbVar.2647 phenoCommon Hemoglobin variant
HbVar.2649 protEffect HBA1 75(EF3) Asp>Val
HbVar.2649 commonName Hb Les Lilas
HbVar.2649 ethnic French Caucasian
HbVar.2649 phenoCommon Hemoglobin variant
HbVar.2650 protEffect HBA1 or HBA2 135(H17) Thr>Ser
HbVar.2650 commonName Hb Kenton
HbVar.2650 ethnic Pakistani
HbVar.2650 phenoCommon Hemoglobin variant
HbVar.2651 protEffect HBG1 132(H9) Gln>His
HbVar.2651 commonName Hb F-Oman
HbVar.2651 ethnic Oman
HbVar.2651 phenoCommon Hemoglobin variant
HbVar.2652 protEffect HBG1 23(B4) Asp>Asn
HbVar.2652 commonName Hb F-Beni Khirane
HbVar.2652 ethnic Moroccan
HbVar.2652 phenoCommon Hemoglobin variant
HbVar.2653 protEffect HBG2 102(G3) Glu>Gln
HbVar.2653 commonName Hb F-Zheijang
HbVar.2653 phenoCommon Hemoglobin variant
HbVar.2654 protEffect HBB 41(C6) Arg>Met
HbVar.2654 commonName Hb Taipei-Tien
HbVar.2654 ethnic Taiwanese
HbVar.2654 phenoCommon Hemoglobin variant
HbVar.2656 commonName IVS-II-1(G>A)delta0
HbVar.2656 alias Delta nt494G>A
HbVar.2656 phenoCommon delta0 thalassemia
HbVar.2659 protEffect HBD Initiation codon Met>Ile
HbVar.2659 commonName HBD c.1 G>A
HbVar.2659 alias Delta nt53 G>A
HbVar.2659 ethnic Chinese
HbVar.2659 phenoCommon delta0 thalassemia
HbVar.2661 protEffect HBA2 92(FG3) Leu>Phe
HbVar.2661 commonName Hb Treviso
HbVar.2661 ethnic Italian
HbVar.2661 phenoCommon Hemoglobin variant
HbVar.2662 protEffect HBB 122(GH 5) Phe>Ser
HbVar.2662 commonName Hb Caruaru
HbVar.2662 ethnic Brazilian
HbVar.2662 phenoCommon Hemoglobin variant
HbVar.2663 protEffect HBB 23(B4) - 26(B7) Glu-Val-Gly-Gly->0
HbVar.2663 commonName Hb Olinda
HbVar.2663 ethnic Brazilian
HbVar.2663 phenoCommon Hemoglobin variant
HbVar.2664 protEffect HBB 143 (-CC); modified C-terminal sequence: (143)Ala-Gln-Val-Ser-Leu-Ser-Ser-Leu-Ser-Cys-
Cys-Pro-Ile-Ser-Ile-Lys-Gly-Ser-Phe-Val-
Pro-(163)COOH
HbVar.2664 commonName Hb Uzes
HbVar.2664 ethnic French
HbVar.2664 phenoCommon Hemoglobin variant
HbVar.2665 protEffect HBA1 or HBA2 72(E20) Ala>Thr
HbVar.2665 commonName Hb Hatfield
HbVar.2665 phenoCommon Hemoglobin variant
HbVar.2666 protEffect HBB 44(CD2) Glu>Gly
HbVar.2666 commonName Hb Haringey
HbVar.2666 phenoCommon Hemoglobin variant
HbVar.2667 protEffect HBA1 29(B9) Ala>Val
HbVar.2667 commonName Hb Nedlands
HbVar.2667 ethnic Greek
HbVar.2667 phenoCommon Hemoglobin variant
HbVar.2668 protEffect HBB 7(A3) Glu>Lys AND HBB 99(FG5) Val>Met
HbVar.2668 commonName Hb Kingsbury
HbVar.2668 ethnic African
HbVar.2668 phenoCommon Hemoglobin variant
HbVar.2669 protEffect HBA2 or HBA1 51(CE8) His>Tyr
HbVar.2669 commonName Hb South Yorkshire
HbVar.2669 ethnic British
HbVar.2669 phenoCommon Hemoglobin variant
HbVar.2670 protEffect HBA2 or HBA1 111(G17) Ala>Val
HbVar.2670 commonName Hb White Rose
HbVar.2670 ethnic British
HbVar.2670 phenoCommon Hemoglobin variant
HbVar.2671 protEffect HBA2 or HBA1 115(GH2) Pro>Ala
HbVar.2671 commonName Hb Broomhill
HbVar.2671 ethnic Chinese
HbVar.2671 phenoCommon Hemoglobin variant
HbVar.2672 protEffect HBB 59(E2) Pro>His
HbVar.2672 commonName Hb Sheffield
HbVar.2672 ethnic British
HbVar.2672 ethnic Oman
HbVar.2672 phenoCommon Hemoglobin variant
HbVar.2673 protEffect HBA1 21(B1) His>Gln
HbVar.2673 commonName Hb Brugg
HbVar.2673 ethnic Swiss
HbVar.2673 phenoCommon Hemoglobin variant
HbVar.2674 protEffect HBA1 or HBA2 69(E17) Asn>Tyr
HbVar.2674 commonName Hb Chelmsford
HbVar.2674 phenoCommon Hemoglobin variant
HbVar.2675 protEffect HBA1 or HBA2 39(C3) Thr>Ala
HbVar.2675 commonName Hb Beaconsfield
HbVar.2675 ethnic English
HbVar.2675 phenoCommon Hemoglobin variant
HbVar.2676 protEffect HBD 40(C5) Gln>His
HbVar.2676 commonName Hb A2-Lyon
HbVar.2676 ethnic French
HbVar.2676 phenoCommon Hemoglobin variant
HbVar.2677 protEffect HBB 6(A2) Pro>Leu
HbVar.2677 commonName Hb Aix-les-Bains
HbVar.2677 ethnic Italian
HbVar.2677 phenoCommon Hemoglobin variant
HbVar.2678 protEffect HBA1 116(GH3) Ala>Val
HbVar.2678 commonName Hb Palmela
HbVar.2678 ethnic Portuguese
HbVar.2678 phenoCommon Hemoglobin variant
HbVar.2679 protEffect HBA1 133(H15) Val>Met
HbVar.2679 commonName Hb Portimao
HbVar.2679 ethnic Portuguese
HbVar.2679 phenoCommon Hemoglobin variant
HbVar.2680 protEffect HBD 75(E18) Gly>Asp
HbVar.2680 commonName Hb A2-Asti
HbVar.2680 ethnic Italian
HbVar.2680 phenoCommon Hemoglobin variant
HbVar.2681 protEffect HBD 8(A4) Glu>Asp
HbVar.2681 commonName Hb A2-Pordenone
HbVar.2681 ethnic Italian
HbVar.2681 phenoCommon Hemoglobin variant
HbVar.2682 protEffect HBB 5(A1) Thr>Pro
HbVar.2682 commonName Hb Benin City
HbVar.2682 ethnic Nigerian
HbVar.2682 phenoCommon Hemoglobin variant
HbVar.2683 protEffect HBB 4(NA3) Leu>Met
HbVar.2683 commonName Hb Niguarda
HbVar.2683 ethnic Italian
HbVar.2683 phenoCommon Hemoglobin variant
HbVar.2685 protEffect HBD 3(NA2) His>Asn
HbVar.2685 commonName Hb A2 codon 2 (CAT->AAT)
HbVar.2685 phenoCommon Hemoglobin variant
HbVar.2686 protEffect HBD 53(D3) Asp>His
HbVar.2686 commonName Hb A2 codon 52 (GAT>CAT)
HbVar.2686 phenoCommon Hemoglobin variant
HbVar.2688 protEffect HBD 82(EF5) Leu>Phe
HbVar.2688 commonName Hb A2 codon 81 (CTC>TTC)
HbVar.2688 phenoCommon Hemoglobin variant
HbVar.2690 protEffect HBB 23(B4) Glu>Asp
HbVar.2690 commonName Hb beta codon 22 (GAA>GAT)
HbVar.2690 phenoCommon Hemoglobin variant
HbVar.2691 protEffect HBB 36(C1) Tyr>His
HbVar.2691 commonName Hb beta codon 35 (TAC>CAC)
HbVar.2691 phenoCommon Hemoglobin variant
HbVar.2692 protEffect HBB 43(CD1) Phe>Cys
HbVar.2692 commonName Hb beta codon 42 (TTT>TGT)
HbVar.2692 phenoCommon Hemoglobin variant
HbVar.2693 protEffect HBB 58(E1) Asn>Ser
HbVar.2693 commonName Hb beta codon 57 (AAC>AGC)
HbVar.2693 phenoCommon Hemoglobin variant
HbVar.2694 protEffect HBB 119(GH1) Phe>Ser
HbVar.2694 commonName Hb beta codon 118 (TTT>TCT)
HbVar.2694 phenoCommon Hemoglobin variant
HbVar.2695 protEffect HBA2 71(E19) Val>Gly
HbVar.2695 commonName Hb alpha2 codon 70 (GTG>GGG)
HbVar.2695 phenoCommon Hemoglobin variant
HbVar.2696 protEffect HBA1 87(F7) Leu>Val
HbVar.2696 commonName Hb alpha1 codon 86 (CTG>GTG)
HbVar.2696 phenoCommon Hemoglobin variant
HbVar.2697 protEffect HBA2 117(GH4) Glu>Val
HbVar.2697 commonName Hb alpha2 codon 116 (GAG>GTG)
HbVar.2697 phenoCommon Hemoglobin variant
HbVar.2698 protEffect HBA2 128(H10) Lys>Glu
HbVar.2698 commonName Hb alpha2 codon 127 (AAG-GAG)
HbVar.2698 phenoCommon Hemoglobin variant
HbVar.2700 commonName -88 (C>G)
HbVar.2700 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2701 commonName -71 (C>T)
HbVar.2701 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2702 commonName -30 T>G
HbVar.2702 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2703 commonName Codon 5/6 (-TG)
HbVar.2703 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2705 protEffect HBB 74(+T); modified C-terminal sequence: (74)stop codon
HbVar.2705 commonName Codon 72/73 (+T)
HbVar.2705 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2706 commonName IVS2-2 (-TGAGTCTATGGG)
HbVar.2706 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2707 commonName IVS2-781 C>G
HbVar.2707 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2708 commonName A Gamma -197 C>T
HbVar.2708 phenoCommon HPFH thalassemia
HbVar.2709 commonName G Gamma -197 C>T
HbVar.2709 phenoCommon HPFH thalassemia
HbVar.2710 commonName -50 G>A
HbVar.2710 phenoCommon beta+ thalassemia
HbVar.2711 commonName -26 A>C
HbVar.2711 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2713 protEffect HBB 107(G8) - 110(G11) Leu-Gly-Asn-Val->0
HbVar.2713 commonName Codon 106 (-CTGGGCAACGTG)
HbVar.2713 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2714 protEffect HBB 116(+TGTGCTG); modified C-terminal sequence: (116)Cys-Ala-Gly-Pro-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-
Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(141)COOH
HbVar.2714 commonName Codon 114 (+TGTGCTG)
HbVar.2714 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2715 protEffect HBB 118 (-C); modified C-terminal sequence: (118)His-Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-
Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-
Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-
Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(157)COOH
HbVar.2715 commonName Codon 117 (-C)
HbVar.2715 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2716 protEffect HBB 126(H3) - 127(H4) Pro-Val->0
HbVar.2716 commonName Codon 125 (-CCAGTG)
HbVar.2716 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2717 protEffect HBB 131(H8) Tyr>Stop
HbVar.2717 commonName Codon 130 (TAT->TAA)
HbVar.2717 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2718 protEffect HBB 132(+A); modified C-terminal sequence: (132)Gln-Glu-Ser-Gly-Gly-Trp-Cys-Gly-(139)COOH
HbVar.2718 commonName Codon 131 (+A)
HbVar.2718 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2720 commonName Poly A (A->T) AATAAA>AATATA
HbVar.2720 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2721 commonName Poly A (-AA)
HbVar.2721 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2722 commonName alpha1 Poly A (AATAAAG->AATAAAA)
HbVar.2722 phenoCommon alpha-1 thalassemia
HbVar.2723 protEffect HBA1 105(G11) Cys>Trp
HbVar.2723 commonName alpha1 Codon 104 (TGC>TGG) [Cys>Trp]
HbVar.2723 phenoCommon alpha-1 thalassemia
HbVar.2724 protEffect HBA1 109 (-C); modified C-terminal sequence: (109)Thr-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-Ser-
Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-Ser-
Ser-Trp-Leu-Leu-(132)COOH
HbVar.2724 commonName alpha1 Codon 108 (-C)
HbVar.2724 phenoCommon alpha-1 thalassemia
HbVar.2725 commonName alpha1 Codon 124-128 (-13bp)
HbVar.2725 phenoCommon alpha-1 thalassemia
HbVar.2726 protEffect HBA2 38 (-C); modified C-terminal sequence
HbVar.2726 commonName alpha2 Codon 37 (-C)
HbVar.2726 phenoCommon alpha-2 thalassemia
HbVar.2727 protEffect HBA2 23(+T); modified C-terminal sequence: (23)Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-Gly-Glu-
Asp-Val-Pro-Val-Leu-Pro-His-His-Gln-Asp-
Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-
Leu-Cys-Pro-Gly-(56)COOH
HbVar.2727 commonName alpha2 Codon 21/22 (+T)
HbVar.2727 phenoCommon alpha-2 thalassemia
HbVar.2728 protEffect HBA2 48 (-A); modified C-terminal sequence: (48)Ala-(48)COOH
HbVar.2728 commonName alpha2 Codon 47 (-A)
HbVar.2728 phenoCommon alpha-2 thalassemia
HbVar.2729 protEffect HBA2 53(+G); modified C-terminal sequence: (53)Val-Cys-Pro-Gly-(56)COOH
HbVar.2729 commonName alpha2 Codon 51/52 (+G)
HbVar.2729 phenoCommon alpha-2 thalassemia
HbVar.2730 protEffect HBA2 64(E12) - 77(EF5) Ala-Asp-Ala-Leu-Thr-Asn-Ala-Val-Ala-His-Val-Asp-Asp-Met->0
HbVar.2730 commonName alpha2 Codon 63-76 (-42bp)
HbVar.2730 phenoCommon alpha-2 thalassemia
HbVar.2731 commonName hg19 chr16:g.(?_103625)_(163701_193676)del
HbVar.2731 alias deletion of HS-40 region
HbVar.2731 phenoCommon alpha (1 or 2 unclear) thalassemia
HbVar.2732 protEffect HBA2 102(G8) Leu>Pro
HbVar.2732 commonName alpha2 Codon 101 (CTA>CCA)
HbVar.2732 phenoCommon alpha-2 thalassemia
HbVar.2733 protEffect HBB 31(B12) Arg>Arg
HbVar.2733 commonName Codon 30 A>C [IVSI (-2)
HbVar.2733 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2734 protEffect HBA2 32(B12) Arg>Lys
HbVar.2734 commonName alpha2 Codon 31 (AGG>AAG)
HbVar.2734 phenoCommon alpha-2 thalassemia
HbVar.2735 protEffect HBB 126(+A); modified C-terminal sequence: (126)Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(139)COOH
HbVar.2735 commonName Codon 124/125(+A)
HbVar.2735 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2736 protEffect HBA1 63 (-G); modified C-terminal sequence: (63)Val-Pro-Thr-Arg-(66)COOH
HbVar.2736 commonName Codon 62 (-G)
HbVar.2736 phenoCommon alpha-1 thalassemia
HbVar.2737 protEffect HBA2 15(A12) Trp>Leu
HbVar.2737 commonName Hb Codon 14 (TGG>TTG)
HbVar.2737 phenoCommon alpha-2 thalassemia
HbVar.2738 commonName Afghan deletion beta0 (909 bp del)
HbVar.2738 phenoCommon beta0 thalassemia
HbVar.2740 protEffect HBD 145(HC1) Lys>Thr
HbVar.2740 commonName Hb A2-San Floro
HbVar.2740 ethnic Italian
HbVar.2740 phenoCommon Hemoglobin variant
HbVar.2741 protEffect HBA2 98(G4) Asn>Asp
HbVar.2741 commonName Hb Cheektowaga
HbVar.2741 ethnic Polish
HbVar.2741 phenoCommon Hemoglobin variant
HbVar.2742 protEffect HBA2 22(B2) Ala>Val
HbVar.2742 commonName Hb Venetia
HbVar.2742 ethnic American
HbVar.2742 phenoCommon Hemoglobin variant
HbVar.2743 protEffect Leu- inserted between codons 3(NA2) and 4(A1) of HBA1
HbVar.2743 commonName Hb Pittsburgh
HbVar.2743 ethnic American
HbVar.2743 phenoCommon Hemoglobin variant
HbVar.2744 protEffect HBA1 19(A16) Gly>Cys
HbVar.2744 commonName Hb Lima
HbVar.2744 phenoCommon Hemoglobin variant
HbVar.2746 protEffect HBD 91(F6) Glu>Gly
HbVar.2746 commonName Hb A2-India
HbVar.2746 ethnic Indian
HbVar.2746 phenoCommon Hemoglobin variant
HbVar.2747 protEffect HBA2 86(F6) Asp>Gly
HbVar.2747 commonName Hb Benton
HbVar.2747 ethnic Caucasian
HbVar.2747 phenoCommon Hemoglobin variant
HbVar.2748 protEffect HBA2 123(H5) His>Leu
HbVar.2748 commonName Hb Dubai
HbVar.2748 ethnic United Arab Emirates
HbVar.2748 phenoCommon Hemoglobin variant
HbVar.2749 protEffect HBA1 111(G17) Ala>Val
HbVar.2749 commonName Hb Montluel
HbVar.2749 alias Hb White Rose
HbVar.2749 ethnic French Caucasian
HbVar.2749 phenoCommon Hemoglobin variant
HbVar.2750 protEffect HBA2 25(B5) Tyr>Stop
HbVar.2750 commonName Codon 24 (T>G)
HbVar.2750 ethnic African-American
HbVar.2750 phenoCommon alpha-2 thalassemia
HbVar.2751 protEffect HBA1 97(G3) Val>Leu
HbVar.2751 commonName Hb Woodstock
HbVar.2751 ethnic Caucasian
HbVar.2751 phenoCommon Hemoglobin variant
HbVar.2752 protEffect HBA1 72(E20) Ala>Val
HbVar.2752 commonName Hb Allison Park
HbVar.2752 ethnic Caucasian
HbVar.2752 phenoCommon Hemoglobin variant
HbVar.2753 protEffect HBB 4(NA3) Leu>Pro
HbVar.2753 commonName Hb Jabalpur
HbVar.2753 ethnic Pakistani
HbVar.2753 phenoCommon Hemoglobin variant
HbVar.2754 protEffect HBA2 113(G19) His>Tyr
HbVar.2754 commonName Hb Kansas City
HbVar.2754 ethnic Caucasian
HbVar.2754 phenoCommon Hemoglobin variant
HbVar.2756 protEffect HBA2 3(NA2) Leu>Pro
HbVar.2756 commonName Hb Kaiser West End
HbVar.2756 ethnic Caucasian
HbVar.2756 phenoCommon Hemoglobin variant
HbVar.2757 protEffect HBA2 64(E12) Ala>Val
HbVar.2757 commonName Hb Aberystwyth
HbVar.2757 alias Hb Nakhon Ratchsima
HbVar.2757 ethnic Thai
HbVar.2757 phenoCommon Hemoglobin variant
HbVar.2758 protEffect HBD 120(GH2) Gly>Asp
HbVar.2758 commonName Hb A2-Lewisburg
HbVar.2758 ethnic Italian
HbVar.2758 phenoCommon Hemoglobin variant
HbVar.2759 protEffect HBA2 88(F8) His>Gln
HbVar.2759 commonName Hb Lansing
HbVar.2759 ethnic African-American
HbVar.2759 ethnic Caucasian
HbVar.2759 ethnic Mexican
HbVar.2759 phenoCommon Hemoglobin variant
HbVar.2760 protEffect HBB 145(HC1) Lys-Tyr-His->0
HbVar.2760 commonName Hb Cambridge-MA
HbVar.2760 ethnic Caucasian
HbVar.2760 ethnic German
HbVar.2760 phenoCommon Hemoglobin variant
HbVar.2761 protEffect HBA1 16(A13) Gly>Cys
HbVar.2761 commonName Hb St. Rose
HbVar.2761 ethnic Indian
HbVar.2761 ethnic Pakistani
HbVar.2761 phenoCommon Hemoglobin variant
HbVar.2762 protEffect HBA2 113(G19) His>Asn
HbVar.2762 commonName Hb Royal Oak
HbVar.2762 ethnic Caucasian
HbVar.2762 ethnic Northern European
HbVar.2762 phenoCommon Hemoglobin variant
HbVar.2763 protEffect HBA2 89(F9) Ala>Thr
HbVar.2763 commonName Hb Voorhees
HbVar.2763 ethnic Caucasian
HbVar.2763 ethnic European
HbVar.2763 phenoCommon Hemoglobin variant
HbVar.2764 protEffect HBA2 24(B4) Glu>Ala
HbVar.2764 commonName Hb Dayton
HbVar.2764 ethnic African-American
HbVar.2764 phenoCommon Hemoglobin variant
HbVar.2765 protEffect HBA2 116(GH3) Ala->0
HbVar.2765 commonName Hb Towson
HbVar.2765 ethnic Caucasian
HbVar.2765 ethnic Northern European
HbVar.2765 phenoCommon Hemoglobin variant
HbVar.2766 protEffect HBA2 100(G6) Lys>Asn
HbVar.2766 commonName Hb Fulton
HbVar.2766 ethnic African-American
HbVar.2766 phenoCommon Hemoglobin variant
HbVar.2768 protEffect HBA2 4(A1) Ser>Cys
HbVar.2768 commonName Hb Teterboro
HbVar.2768 ethnic African-American
HbVar.2768 phenoCommon Hemoglobin variant
HbVar.2769 protEffect HBA2 87(F7) Leu>Val
HbVar.2769 commonName Hb Ridgewood
HbVar.2769 phenoCommon Hemoglobin variant
HbVar.2770 protEffect HBB 27(B8) Glu>Gln
HbVar.2770 commonName Hb King's Mill
HbVar.2770 phenoCommon Hemoglobin variant
HbVar.2771 protEffect HBA2 38(C2) Pro>Ser
HbVar.2771 commonName Hb Boskoop
HbVar.2771 phenoCommon Hemoglobin variant
HbVar.2772 protEffect HBB 17(A13) Gly>Cys
HbVar.2772 commonName Hb Whitmire
HbVar.2772 ethnic African-American
HbVar.2772 phenoCommon Hemoglobin variant
HbVar.2775 protEffect HBA2 97(G3) Val>Ile
HbVar.2775 commonName Hb El Salvador
HbVar.2775 ethnic Hispanic
HbVar.2775 phenoCommon Hemoglobin variant
HbVar.2776 protEffect HBA2 31(B11) Glu->0
HbVar.2776 commonName Alpha2 Codon 30 del GAG
HbVar.2776 ethnic Caucasian
HbVar.2776 ethnic European
HbVar.2776 phenoCommon alpha-2 thalassemia
HbVar.2777 protEffect HBD 83(EF6) Lys>Stop
HbVar.2777 commonName Codon 82 (AAG->TAG) delta0
HbVar.2777 ethnic Indonesian
HbVar.2777 phenoCommon delta (0 or + unclear) thalassemia
HbVar.2778 commonName IVS I-45 G>C
HbVar.2778 phenoCommon alpha-1 thalassemia
HbVar.2779 protEffect HBA2 47(CE4) Phe>Ser
HbVar.2779 commonName Hb Lake Tapawingo
HbVar.2779 ethnic Caucasian
HbVar.2779 phenoCommon Hemoglobin variant
HbVar.2780 protEffect HBA1 113(G19) His>Gln
HbVar.2780 commonName Hb West Allis
HbVar.2780 ethnic African-American
HbVar.2780 phenoCommon Hemoglobin variant
HbVar.2781 protEffect HBD 7(A3) Glu>Gln
HbVar.2781 commonName Hb A2-Ramallah
HbVar.2781 phenoCommon Hemoglobin variant
HbVar.2782 protEffect HBB 7(A3) Glu>Val AND HBB 106(G7) Leu>Pro
HbVar.2782 commonName Hb S-San Martin
HbVar.2782 ethnic Argentine
HbVar.2782 phenoCommon Hemoglobin variant
HbVar.2783 protEffect HBA1 15(A12) Trp>Leu
HbVar.2783 commonName Hb Basel
HbVar.2783 ethnic Portuguese
HbVar.2783 phenoCommon Hemoglobin variant
HbVar.2784 protEffect HBA1 33(B13) Met>Lys
HbVar.2784 commonName Hb Queens Park
HbVar.2784 ethnic Australian
HbVar.2784 phenoCommon Hemoglobin variant
HbVar.2785 protEffect HBB 7(A3) Glu>Val AND HBB 9(A5) Lys>Thr
HbVar.2785 commonName Hb S-Clichy
HbVar.2785 phenoCommon Hemoglobin variant
HbVar.2788 protEffect HBG1 120(GH2) Gly>Ser
HbVar.2788 commonName Hb F-Osilo
HbVar.2788 phenoCommon Hemoglobin variant
HbVar.2790 protEffect HBG2 81(EF4) Asp>Tyr
HbVar.2790 commonName Hb F-Paulinia
HbVar.2790 phenoCommon Hemoglobin variant
HbVar.2791 protEffect HBB 8(A4) Glu>Asp
HbVar.2791 commonName Hb Stockholm
HbVar.2791 phenoCommon Hemoglobin variant
HbVar.2792 protEffect HBA2 8(A5) Lys>Gln
HbVar.2792 commonName Hb J-Brainerd
HbVar.2792 ethnic Scandinavian
HbVar.2792 phenoCommon Hemoglobin variant
HbVar.2794 protEffect HBA2 8(A5) Lys>Thr
HbVar.2794 commonName Hb Nayarit
HbVar.2794 ethnic Mexican
HbVar.2794 phenoCommon Hemoglobin variant
HbVar.2795 protEffect HBA1 43(C7) Tyr>Ser
HbVar.2795 commonName Hb Erzeroum
HbVar.2795 ethnic Turkish
HbVar.2795 phenoCommon Hemoglobin variant
HbVar.2796 protEffect HBA1 14(A11) Ala>Thr
HbVar.2796 commonName Hb Olivet
HbVar.2796 ethnic French
HbVar.2796 phenoCommon Hemoglobin variant
HbVar.2797 protEffect HBB 81(EF4) Asn>His
HbVar.2797 commonName Hb East Timor
HbVar.2797 phenoCommon Hemoglobin variant
HbVar.2798 protEffect HBB 68(E11) Val>Met AND HBB 42(C7) Phe>Leu
HbVar.2798 commonName Hb Brevedent
HbVar.2798 ethnic French
HbVar.2798 phenoCommon Hemoglobin variant
HbVar.2800 protEffect HBA1 21(+T); modified C-terminal sequence: (21)His-Arg-Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-
Gly-Glu-Asp-Val-Pro-Val-Leu-Pro-His-His-
Gln-Asp-Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-
Pro-Arg-Leu-Cys-Pro-Gly-(56)COOH
HbVar.2800 commonName Hb alpha1 codon20(+T)
HbVar.2800 ethnic French
HbVar.2800 phenoCommon Thalassemia
HbVar.2801 protEffect HBA2 91(FG2) Lys>Gln
HbVar.2801 commonName Hb Bergerac
HbVar.2801 ethnic French Caucasian
HbVar.2801 phenoCommon Hemoglobin variant
HbVar.2802 protEffect HBB 135(H12) Val>Gly
HbVar.2802 commonName Hb Olupona
HbVar.2802 ethnic Nigerian
HbVar.2802 phenoCommon Hemoglobin variant
HbVar.2803 protEffect HBA2 90(FG1) His>Gln
HbVar.2803 commonName Hb Enfield
HbVar.2803 ethnic African
HbVar.2803 phenoCommon Hemoglobin variant
HbVar.2804 protEffect HBB 81(EF4) Asn>Asp
HbVar.2804 commonName Hb Valley park
HbVar.2804 ethnic Caucasian
HbVar.2804 phenoCommon Hemoglobin variant
HbVar.2806 protEffect HBD 144(H21) His>Tyr
HbVar.2806 commonName Hb Noah Mehmet Oeztuerk
HbVar.2806 ethnic Turkish
HbVar.2806 phenoCommon Hemoglobin variant
HbVar.2807 protEffect Ggamma-beta hybrid (HBG2 through 14; HBB from 21)
HbVar.2807 commonName Hb Ulsan
HbVar.2807 ethnic Korean
HbVar.2807 phenoCommon Hemoglobin variant
HbVar.2808 protEffect HBB 40 (-A); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-
Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-
Arg-(60)COOH
HbVar.2808 commonName Codon 39 (-A)
HbVar.2808 phenoCommon beta0 thalassemia
HbVar.2809 protEffect HBG2 147(HC3) His>Arg
HbVar.2809 commonName Hb F-Istambul
HbVar.2809 ethnic Turkish
HbVar.2809 phenoCommon Hemoglobin variant
HbVar.2810 protEffect HBG2 94(F9) Cys>Arg
HbVar.2810 commonName Hb F-Monserrato-Sassari
HbVar.2810 ethnic Sardinian
HbVar.2810 phenoCommon Hemoglobin variant
HbVar.2811 protEffect HBG1 122(GH4) Glu>Val
HbVar.2811 commonName Hb F-Salamanque
HbVar.2811 ethnic Spanish
HbVar.2811 phenoCommon Hemoglobin variant
HbVar.2812 protEffect HBA1 or HBA2 55(E3) Gln>His
HbVar.2812 commonName Hb PRINCES RISBOROUGH
HbVar.2812 ethnic Asian
HbVar.2812 phenoCommon Hemoglobin variant
HbVar.2813 protEffect HBA1 or HBA2 86(F6) Asp>Glu
HbVar.2813 commonName Hb AYLESBURY
HbVar.2813 phenoCommon Hemoglobin variant
HbVar.2814 protEffect HBB 101(G2) Pro>Thr
HbVar.2814 commonName Hb Bellevue II
HbVar.2814 ethnic African-American
HbVar.2814 phenoCommon Hemoglobin variant
HbVar.2815 protEffect HBB 8(A4) Glu>Gln
HbVar.2815 commonName Hb Bellevue III
HbVar.2815 ethnic African-American
HbVar.2815 phenoCommon Hemoglobin variant
HbVar.2816 protEffect HBB 73(E16) Ser>Thr
HbVar.2816 commonName Hb PHIMAI
HbVar.2816 phenoCommon Hemoglobin variant
HbVar.2817 protEffect HBA1 32(B12) Arg>Thr
HbVar.2817 commonName Hb Mao
HbVar.2817 ethnic Italian
HbVar.2817 phenoCommon Hemoglobin variant
HbVar.2818 protEffect HBB 27(B8) Glu>Asp
HbVar.2818 commonName Hb Marijampole
HbVar.2818 phenoCommon Hemoglobin variant
HbVar.2819 protEffect HBB 106(G7) Leu>Pro
HbVar.2819 commonName Hb Bellevue IV
HbVar.2819 ethnic Hispanic
HbVar.2819 phenoCommon Hemoglobin variant
HbVar.2820 protEffect HBB 78(EF1) His>Asn
HbVar.2820 commonName Hb Heilbronn
HbVar.2820 ethnic German
HbVar.2820 phenoCommon Hemoglobin variant
HbVar.2822 protEffect HBB 105(G6) Arg>Gly
HbVar.2822 commonName Hb Nimes
HbVar.2822 ethnic French Caucasian
HbVar.2822 phenoCommon Hemoglobin variant
HbVar.2823 protEffect HBB 49 - 56 (-TCCACTCCTGATGCTGTTA); modified C-terminal sequence AND HBB 50(+AGCT); modified C-terminal sequence
HbVar.2823 commonName Hb Martinez
HbVar.2823 ethnic American Indian
HbVar.2823 ethnic Caucasian
HbVar.2823 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2825 protEffect HBA1 127(H9) Asp>Ala
HbVar.2825 commonName Hb Verdun
HbVar.2825 ethnic French Caucasian
HbVar.2825 phenoCommon Hemoglobin variant
HbVar.2826 protEffect HBA2 60(E8) Gly>Ser
HbVar.2826 commonName Hb Parma [A2]
HbVar.2826 ethnic Portuguese
HbVar.2826 phenoCommon Hemoglobin variant
HbVar.2827 protEffect HBB 120(GH2) Gly>Arg
HbVar.2827 commonName Hb Angouleme
HbVar.2827 ethnic French Caucasian
HbVar.2827 phenoCommon Hemoglobin variant
HbVar.2828 protEffect HBB 105(G6) Arg>Met
HbVar.2828 commonName Hb Bad Salzuflen
HbVar.2828 ethnic German
HbVar.2828 phenoCommon Hemoglobin variant
HbVar.2829 protEffect HBB 116(G17) Ala>Val
HbVar.2829 commonName Hb Roma
HbVar.2829 ethnic Italian
HbVar.2829 phenoCommon Hemoglobin variant
HbVar.2830 protEffect HBB 101(G2) Pro>Ser
HbVar.2830 commonName Hb Niort
HbVar.2830 ethnic French
HbVar.2830 phenoCommon Hemoglobin variant
HbVar.2832 protEffect HBA2 108 (-T); modified C-terminal sequence: (108)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-
Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-
Ser-Ser-Trp-Leu-Leu-(132)COOH
HbVar.2832 commonName Hb Lynwood
HbVar.2832 ethnic Sudanese
HbVar.2832 phenoCommon Hemoglobin variant
HbVar.2833 protEffect HBD 30(B11) Gly>Asp
HbVar.2833 commonName Hb A2 Hong Kong
HbVar.2833 phenoCommon Hemoglobin variant
HbVar.2834 protEffect HBA2 23(B3) - 26(B6) Gly-Glu-Tyr-Gly->0 AND inserted Gly
HbVar.2834 commonName Hb Zhanjiang
HbVar.2834 ethnic Chinese
HbVar.2834 phenoCommon Hemoglobin variant
HbVar.2835 protEffect HBB 90(F5) Ser>Arg
HbVar.2835 commonName Hb Vanderbilt II
HbVar.2835 phenoCommon Hemoglobin variant
HbVar.2836 protEffect HBB 7(A3) Glu>Val AND HBB 66(E9) Lys>Glu
HbVar.2836 commonName Hb S-Sao Paulo
HbVar.2836 ethnic Brazilian
HbVar.2836 phenoCommon Hemoglobin variant
HbVar.2837 protEffect HBB 94(F9) Cys>Trp
HbVar.2837 commonName Hb Santa Giusta Sardegna
HbVar.2837 phenoCommon Hemoglobin variant
HbVar.2838 protEffect HBB 94(F9) Cys>Ser
HbVar.2838 commonName Hb Riesa
HbVar.2838 phenoCommon Hemoglobin variant
HbVar.2839 protEffect HBB 82(EF5) Leu>Phe
HbVar.2839 commonName Hb Seville
HbVar.2839 ethnic Spanish
HbVar.2839 phenoCommon Hemoglobin variant
HbVar.2840 protEffect HBA2 64(E12) Ala>Val
HbVar.2840 commonName Hb Nakhon Ratchasima
HbVar.2840 alias Hb Aberystwyth
HbVar.2840 phenoCommon Hemoglobin variant
ADAbase_D0001:g.29885G>A protEffect R142Q
ADAbase_D0001:g.29885G>A mutType missense
ADAbase_D0001:g.1135C>T protEffect Q3X
ADAbase_D0001:g.1135C>T mutType nonsense
ADAbase_D0001:g.28910G>A protEffect G74D
ADAbase_D0001:g.28910G>A mutType missense
ADAbase_D0001:g.28910G>T protEffect G74V
ADAbase_D0001:g.28910G>T mutType missense
ADAbase_D0001:g.32891C>T protEffect P274L
ADAbase_D0001:g.32891C>T mutType missense
ADAbase_D0001:g.28937C>A protEffect A83D
ADAbase_D0001:g.28937C>A mutType missense
ADAbase_D0001:g.28979A>G protEffect Y97C
ADAbase_D0001:g.28979A>G mutType missense
ADAbase_D0001:g.2430_5678del mutType no
ADAbase_D0001:g.32461G>A protEffect A215T
ADAbase_D0001:g.32461G>A mutType missense
ADAbase_D0001:g.29003delA protEffect H105X132
ADAbase_D0001:g.29003delA mutType frameshift
ADAbase_D0001:g.29827delG protEffect D123X132
ADAbase_D0001:g.29827delG mutType frameshift
ADAbase_D0001:g.29879G>A protEffect G140E
ADAbase_D0001:g.29879G>A mutType missense
ADAbase_D0001:g.29884C>T protEffect R142X
ADAbase_D0001:g.29884C>T mutType nonsense
ADAbase_D0001:g.29927G>A protEffect R156H
ADAbase_D0001:g.29927G>A mutType missense
ADAbase_D0001:g.27156G>A protEffect R156H
ADAbase_D0001:g.27156G>A mutType missense
ADAbase_D0001:g.29831delG protEffect R235X310
ADAbase_D0001:g.29831delG mutType frameshift
ADAbase_D0001:g.32497G>A protEffect E203_E226del
ADAbase_D0001:g.32497G>A mutType loss
ADAbase_D0001:g.32592C>T protEffect T233I
ADAbase_D0001:g.32592C>T mutType missense
ADAbase_D0001:g.30148G>A protEffect R282Q
ADAbase_D0001:g.30148G>A mutType missense
ADAbase_D0001:g.28906A>G protEffect G74_E121del
ADAbase_D0001:g.28906A>G mutType loss
ADAbase_D0001:g.32874T>A protEffect G360X406
ADAbase_D0001:g.32874T>A mutType frameshift
ADAbase_D0001:g.32874_32885delinsA mutType no
AICDAbase_D0002:g.6292_6310del protEffect N7X26
AICDAbase_D0002:g.6292_6310del mutType frameshift
AICDAbase_D0002:g.6302T>C protEffect F11L
AICDAbase_D0002:g.6302T>C mutType missense
AICDAbase_D0002:g.7876_7877insT protEffect Y76X117
AICDAbase_D0002:g.7876_7877insT mutType frameshift
AICDAbase_D0002:g.6341C>T protEffect R24W
AICDAbase_D0002:g.6341C>T mutType missense
AICDAbase_D0002:g.6398T>C protEffect S43P
AICDAbase_D0002:g.6398T>C mutType missense
AICDAbase_D0002:g.7816C>T protEffect H56Y
AICDAbase_D0002:g.7816C>T mutType missense
AICDAbase_D0002:g.7822G>A protEffect E58K
AICDAbase_D0002:g.7822G>A mutType missense
AICDAbase_D0002:g.7909T>C protEffect C87R
AICDAbase_D0002:g.7909T>C mutType missense
AICDAbase_D0002:g.7826_7834delTGCTCTTCC protEffect 59_62delinsF
AICDAbase_D0002:g.7826_7834delTGCTCTTCC mutType inframe
AICDAbase_D0002:g.7853G>A protEffect W68X
AICDAbase_D0002:g.7853G>A mutType nonsense
AICDAbase_D0002:g.7885_7893delACCTGGTTC protEffect T79_F81del
AICDAbase_D0002:g.7885_7893delACCTGGTTC mutType inframe
AICDAbase_D0002:g.7888T>C protEffect W80R
AICDAbase_D0002:g.7888T>C mutType missense
AICDAbase_D0002:g.7902G>A protEffect W84X
AICDAbase_D0002:g.7902G>A mutType nonsense
AICDAbase_D0002:g.7988T>C protEffect L113P
AICDAbase_D0002:g.7988T>C mutType missense
AICDAbase_D0002:g.7943T>G protEffect L98R
AICDAbase_D0002:g.7943T>G mutType missense
AICDAbase_D0002:g.7967T>C protEffect L106P
AICDAbase_D0002:g.7967T>C mutType missense
AICDAbase_D0002:g.7984C>T protEffect R112C
AICDAbase_D0002:g.7984C>T mutType missense
AICDAbase_D0002:g.8956delC protEffect P182X209
AICDAbase_D0002:g.8956delC mutType frameshift
AICDAbase_D0002:g.7985G>A protEffect R112H
AICDAbase_D0002:g.7985G>A mutType missense
AICDAbase_D0002:g.8014G>T protEffect E122X
AICDAbase_D0002:g.8014G>T mutType nonsense
AICDAbase_D0002:g.8057T>A protEffect I136K
AICDAbase_D0002:g.8057T>A mutType missense
AICDAbase_D0002:g.8065A>G protEffect M139V
AICDAbase_D0002:g.8065A>G mutType missense
AICDAbase_D0002:g.8384C>A protEffect C147X
AICDAbase_D0002:g.8384C>A mutType nonsense
AICDAbase_D0002:g.8395T>C protEffect F151S
AICDAbase_D0002:g.8395T>C mutType missense
AICDAbase_D0002:g.8465A>C protEffect R174S
AICDAbase_D0002:g.8465A>C mutType missense
AICDAbase_D0002:g.8980C>T protEffect R190X
AICDAbase_D0002:g.8980C>T mutType nonsense
AICDAbase_D0002:g.6428G>T protEffect N53X67
AICDAbase_D0002:g.6428G>T mutType insertion
AICDAbase_D0002:g.8954A>G protEffect 181_181delins32
AICDAbase_D0002:g.8954A>G mutType inframe
AICDAbase_D0002:g.8487G>C protEffect D143X146
AICDAbase_D0002:g.8487G>C mutType frameshift
AIREbase_D0003:g.4707A>T protEffect M1L
AIREbase_D0003:g.4707A>T mutType initiation
AIREbase_D0003:g.8473C>T protEffect R257X
AIREbase_D0003:g.8473C>T mutType nonsense
AIREbase_D0003:g.4749C>T protEffect R15C
AIREbase_D0003:g.4749C>T mutType missense
AIREbase_D0003:g.4750G>T protEffect R15L
AIREbase_D0003:g.4750G>T mutType missense
AIREbase_D0003:g.9882_9894del protEffect 323_327delins51
AIREbase_D0003:g.9882_9894del mutType frameshift
AIREbase_D0003:g.4749_4750ins protEffect R15X19
AIREbase_D0003:g.4749_4750ins mutType frameshift
AIREbase_D0003:g.4753C>T protEffect T16M
AIREbase_D0003:g.4753C>T mutType missense
AIREbase_D0003:g.5356T>A protEffect W78R
AIREbase_D0003:g.5356T>A mutType missense
AIREbase_D0003:g.4770_4775delGTGGAC protEffect V22_D23del
AIREbase_D0003:g.4770_4775delGTGGAC mutType inframe
AIREbase_D0003:g.4789T>C protEffect L28P
AIREbase_D0003:g.4789T>C mutType missense
AIREbase_D0003:g.11846delC protEffect L417X479
AIREbase_D0003:g.11846delC mutType frameshift
AIREbase_D0003:g.4792T>C protEffect L29P
AIREbase_D0003:g.4792T>C mutType missense
AIREbase_D0003:g.5315_5350del protEffect 64_76delinsY
AIREbase_D0003:g.5315_5350del mutType inframe
AIREbase_D0003:g.5332_5333insCAGG protEffect D70X217
AIREbase_D0003:g.5332_5333insCAGG mutType frameshift
AIREbase_D0003:g.5354T>C protEffect F77S
AIREbase_D0003:g.5354T>C mutType missense
AIREbase_D0003:g.5356T>C protEffect W78R
AIREbase_D0003:g.5356T>C mutType missense
AIREbase_D0003:g.11078C>T protEffect Q358X
AIREbase_D0003:g.11078C>T mutType nonsense
AIREbase_D0003:g.8459C>T protEffect P252L
AIREbase_D0003:g.8459C>T mutType missense
AIREbase_D0003:g.5371A>G protEffect K83E
AIREbase_D0003:g.5371A>G mutType missense
AIREbase_D0003:g.5393A>G protEffect Y90C
AIREbase_D0003:g.5393A>G mutType missense
AIREbase_D0003:g.5402T>G protEffect L93R
AIREbase_D0003:g.5402T>G mutType missense
AIREbase_D0003:g.5785C>T protEffect R139X
AIREbase_D0003:g.5785C>T mutType nonsense
AIREbase_D0003:g.6270C>T protEffect Q173X
AIREbase_D0003:g.6270C>T mutType nonsense
AIREbase_D0003:g.7046delG protEffect G180X377
AIREbase_D0003:g.7046delG mutType frameshift
AIREbase_D0003:g.7113C>T protEffect R203X
AIREbase_D0003:g.7113C>T mutType nonsense
AIREbase_D0003:g.8386G>T protEffect G228W
AIREbase_D0003:g.8386G>T mutType missense
AIREbase_D0003:g.16426A>T protEffect 546_546delins61
AIREbase_D0003:g.16426A>T mutType terminator
AIREbase_D0003:g.11839_11840insA protEffect H415X423
AIREbase_D0003:g.11839_11840insA mutType frameshift
AIREbase_D0003:g.9892C>T protEffect P326L
AIREbase_D0003:g.9892C>T mutType missense
AIREbase_D0003:g.8350_8352delCTC protEffect G218X284
AIREbase_D0003:g.8350_8352delCTC mutType insertion
AIREbase_D0003:g.9846delT protEffect C311X377
AIREbase_D0003:g.9846delT mutType frameshift
AIREbase_D0003:g.9816G>A protEffect V301M
AIREbase_D0003:g.9816G>A mutType missense
AIREbase_D0003:g.9823G>C protEffect R303P
AIREbase_D0003:g.9823G>C mutType missense
AIREbase_D0003:g.11861delC protEffect P422X479
AIREbase_D0003:g.11861delC mutType frameshift
AIREbase_D0003:g.12506delinsAC protEffect A432X503
AIREbase_D0003:g.12506delinsAC mutType frameshift
AIREbase_D0003:g.9884_9885insCCTG protEffect S324X372
AIREbase_D0003:g.9884_9885insCCTG mutType frameshift
AIREbase_D0003:g.11074_11075dupCCCGG protEffect P357X379
AIREbase_D0003:g.11074_11075dupCCCGG mutType frameshift
AIREbase_D0003:g.15091delG protEffect A505X520
AIREbase_D0003:g.15091delG mutType frameshift
AIREbase_D0003:g.11700_11701insC protEffect P368X371
AIREbase_D0003:g.11700_11701insC mutType frameshift
AIREbase_D0003:g.12504_12505insAC protEffect A432X480
AIREbase_D0003:g.12504_12505insAC mutType frameshift
AIREbase_D0003:g.12554delinsTT protEffect H448X503
AIREbase_D0003:g.12554delinsTT mutType frameshift
AIREbase_D0003:g.16404C>T protEffect P539L
AIREbase_D0003:g.16404C>T mutType missense
AP3B1base_D0103:g.28101_28104delAGAG protEffect L51X62
AP3B1base_D0103:g.28101_28104delAGAG mutType frameshift
AP3B1base_D0103:g.114127A>T protEffect R302X
AP3B1base_D0103:g.114127A>T mutType nonsense
AP3B1base_D0103:g.119856_119857delinsTATCAATATC protEffect Q355X360
AP3B1base_D0103:g.119856_119857delinsTATCAATATC mutType frameshift
AP3B1base_D0103:g.166503dupA protEffect I597X608
AP3B1base_D0103:g.166503dupA mutType frameshift
AP3B1base_D0103:g.147279_155450del mutType inframe
BIRC4base_D0120:g.26757delC protEffect L98X129
BIRC4base_D0120:g.26757delC mutType frameshift
BIRC4base_D0120:g.26775C>T protEffect Q104X
BIRC4base_D0120:g.26775C>T mutType nonsense
BIRC4base_D0120:g.26817G>T protEffect E118X
BIRC4base_D0120:g.26817G>T mutType nonsense
BIRC4base_D0120:g.27028G>A protEffect G188E
BIRC4base_D0120:g.27028G>A mutType missense
BIRC4base_D0120:g.27333dupT protEffect Y290X294
BIRC4base_D0120:g.27333dupT mutType frameshift
BIRC4base_D0120:g.32060C>T protEffect Q333X
BIRC4base_D0120:g.32060C>T mutType nonsense
BIRC4base_D0120:g.32082A>G protEffect N340S
BIRC4base_D0120:g.32082A>G mutType missense
BIRC4base_D0120:g.47898A>T protEffect T470S
BIRC4base_D0120:g.47898A>T mutType missense
BIRC4base_D0120:g.47935C>G protEffect P482R
BIRC4base_D0120:g.47935C>G mutType missense
BIRC4base_D0120:g.47971T>A protEffect I494N
BIRC4base_D0120:g.47971T>A mutType missense
BLMbase_D0004:g.33139delA protEffect N92X128
BLMbase_D0004:g.33139delA mutType frameshift
BLMbase_D0004:g.33175C>A protEffect S104X
BLMbase_D0004:g.33175C>A mutType nonsense
BLMbase_D0004:g.77907G>C protEffect C1055S
BLMbase_D0004:g.77907G>C mutType missense
BLMbase_D0004:g.33421_33423delCAA protEffect 186_187delinsX
BLMbase_D0004:g.33421_33423delCAA mutType inframe
BLMbase_D0004:g.44513dupA protEffect N515X516
BLMbase_D0004:g.44513dupA mutType frameshift
BLMbase_D0004:g.33445_33446delTT protEffect F194X
BLMbase_D0004:g.33445_33446delTT mutType nonsense
BLMbase_D0004:g.33445dupT protEffect F194X195
BLMbase_D0004:g.33445dupT mutType frameshift
BLMbase_D0004:g.33636_33637delCT protEffect L258X264
BLMbase_D0004:g.33636_33637delCT mutType frameshift
BLMbase_D0004:g.35397A>T protEffect K272X
BLMbase_D0004:g.35397A>T mutType nonsense
BLMbase_D0004:g.38438_38442delAAAGA protEffect K331X334
BLMbase_D0004:g.38438_38442delAAAGA mutType frameshift
BLMbase_D0004:g.77771delG protEffect D1010X1033
BLMbase_D0004:g.77771delG mutType frameshift
BLMbase_D0004:g.44611C>T protEffect Q548X
BLMbase_D0004:g.44611C>T mutType nonsense
BLMbase_D0004:g.44670G>A protEffect W567X
BLMbase_D0004:g.44670G>A mutType nonsense
BLMbase_D0004:g.43745A>T protEffect R364X
BLMbase_D0004:g.43745A>T mutType nonsense
BLMbase_D0004:g.46612C>T protEffect Q645X
BLMbase_D0004:g.46612C>T mutType nonsense
BLMbase_D0004:g.44253G>A protEffect W428X
BLMbase_D0004:g.44253G>A mutType nonsense
BLMbase_D0004:g.44315delC protEffect S449X450
BLMbase_D0004:g.44315delC mutType frameshift
BLMbase_D0004:g.44597T>A protEffect L543X
BLMbase_D0004:g.44597T>A mutType nonsense
BLMbase_D0004:g.44753C>A protEffect S595X
BLMbase_D0004:g.44753C>A mutType nonsense
BLMbase_D0004:g.50562_50563insAAAT protEffect L751X775
BLMbase_D0004:g.50562_50563insAAAT mutType frameshift
BLMbase_D0004:g.68579C>T protEffect Q909X
BLMbase_D0004:g.68579C>T mutType nonsense
BLMbase_D0004:g.81798dupA protEffect R1075X1079
BLMbase_D0004:g.81798dupA mutType frameshift
BLMbase_D0004:g.48915C>T protEffect Q700X
BLMbase_D0004:g.48915C>T mutType nonsense
BLMbase_D0004:g.74344delC protEffect Q975X998
BLMbase_D0004:g.74344delC mutType frameshift
BLMbase_D0004:g.81836delT protEffect 1087_1087delins11
BLMbase_D0004:g.81836delT mutType frameshift
BLMbase_D0004:g.68549C>T protEffect R899X
BLMbase_D0004:g.68549C>T mutType nonsense
BLMbase_D0004:g.46647dupG protEffect K657X661
BLMbase_D0004:g.46647dupG mutType frameshift
BLMbase_D0004:g.46694A>G protEffect Q672R
BLMbase_D0004:g.46694A>G mutType missense
BLMbase_D0004:g.77934A>T protEffect D1064V
BLMbase_D0004:g.77934A>T mutType missense
BLMbase_D0004:g.87233_87234delTT protEffect L1159X1164
BLMbase_D0004:g.87233_87234delTT mutType frameshift
BLMbase_D0004:g.50519_50524delinsTAGATTC protEffect Y736X740
BLMbase_D0004:g.50519_50524delinsTAGATTC mutType frameshift
BLMbase_D0004:g.77902delT protEffect D1053X1077
BLMbase_D0004:g.77902delT mutType frameshift
BLMbase_D0004:g.68526G>A protEffect G891E
BLMbase_D0004:g.68526G>A mutType missense
BLMbase_D0004:g.53034dupT protEffect W803X806
BLMbase_D0004:g.53034dupT mutType frameshift
BLMbase_D0004:g.87268T>A protEffect Y1170X
BLMbase_D0004:g.87268T>A mutType nonsense
BLMbase_D0004:g.53133_53134delAG protEffect R836X853
BLMbase_D0004:g.53133_53134delAG mutType frameshift
BLMbase_D0004:g.77940G>A protEffect C1066Y
BLMbase_D0004:g.77940G>A mutType missense
BLMbase_D0004:g.53115dupA protEffect T830X834
BLMbase_D0004:g.53115dupA mutType frameshift
BLMbase_D0004:g.87885delA protEffect K1227X1278
BLMbase_D0004:g.87885delA mutType frameshift
BLMbase_D0004:g.66505G>A protEffect W881X
BLMbase_D0004:g.66505G>A mutType nonsense
BLMbase_D0004:g.87173C>T protEffect R1139X
BLMbase_D0004:g.87173C>T mutType nonsense
BLMbase_D0004:g.68556G>A protEffect C901Y
BLMbase_D0004:g.68556G>A mutType missense
BLMbase_D0004:g.68675C>T protEffect Q941X
BLMbase_D0004:g.68675C>T mutType nonsense
BLMbase_D0004:g.77850G>T protEffect C1036F
BLMbase_D0004:g.77850G>T mutType missense
BLMbase_D0004:g.74276G>T protEffect G952V
BLMbase_D0004:g.74276G>T mutType missense
BLMbase_D0004:g.74308C>T protEffect H963Y
BLMbase_D0004:g.74308C>T mutType missense
BLMbase_D0004:g.77861C>T protEffect Q1040X
BLMbase_D0004:g.77861C>T mutType nonsense
BLMbase_D0004:g.81830_81831insT protEffect R1086X
BLMbase_D0004:g.81830_81831insT mutType nonsense
BLMbase_D0004:g.81853C>G protEffect S1093X
BLMbase_D0004:g.81853C>G mutType nonsense
BLMbase_D0004:g.87791delG protEffect S1196X1198
BLMbase_D0004:g.87791delG mutType frameshift
BLMbase_D0004:g.87931dupA protEffect T1243X1256
BLMbase_D0004:g.87931dupA mutType frameshift
BLMbase_D0004:g.92828C>T protEffect Q1283X
BLMbase_D0004:g.92828C>T mutType nonsense
BTKbase_U78027.1:g.46199G>T protEffect M1I
BTKbase_U78027.1:g.46199G>T mutType initiation
BTKbase_U78027.1:g.46198T>C protEffect M1T
BTKbase_U78027.1:g.46198T>C mutType initiation_codon
BTKbase_U78027.1:g.46197A>G protEffect M1V
BTKbase_U78027.1:g.46197A>G mutType initiation_codon
BTKbase_U78027.1:g.46167_46945del protEffect M1_P80del
BTKbase_U78027.1:g.46167_46945del mutType inframe_deletion
BTKbase_U78027.1:g.46211_46223del protEffect I5X7
BTKbase_U78027.1:g.46211_46223del mutType frameshift
BTKbase_U78027.1:g.46208dupG protEffect I5X41
BTKbase_U78027.1:g.46208dupG mutType frameshift
BTKbase_U78027.1:g.46210_46235del protEffect L6X32
BTKbase_U78027.1:g.46210_46235del mutType frameshift
BTKbase_U78027.1:g.46225T>A protEffect F10Y
BTKbase_U78027.1:g.46225T>A mutType missense
BTKbase_U78027.1:g.46228T>C protEffect L11P
BTKbase_U78027.1:g.46228T>C mutType missense
BTKbase_U78027.1:g.46226dupT protEffect 11_11delins31
BTKbase_U78027.1:g.46226dupT mutType frameshift
BTKbase_U78027.1:g.46231A>G protEffect K12R
BTKbase_U78027.1:g.46231A>G mutType missense
BTKbase_U78027.1:g.46233C>T protEffect R13X
BTKbase_U78027.1:g.46233C>T mutType nonsense
BTKbase_U78027.1:g.46237C>T protEffect S14F
BTKbase_U78027.1:g.46237C>T mutType missense
BTKbase_U78027.1:g.46237C>A protEffect S14Y
BTKbase_U78027.1:g.46237C>A mutType missense
BTKbase_U78027.1:g.46237_46239delCCC protEffect 14_15delinsX
BTKbase_U78027.1:g.46237_46239delCCC mutType inframe
BTKbase_U78027.1:g.46239C>T protEffect Q15X
BTKbase_U78027.1:g.46239C>T mutType nonsense
BTKbase_U78027.1:g.46241delA protEffect Q15X23
BTKbase_U78027.1:g.46241delA mutType frameshift
BTKbase_U78027.1:g.46245A>G protEffect K17E
BTKbase_U78027.1:g.46245A>G mutType missense
BTKbase_U78027.1:g.46251A>G protEffect K19E
BTKbase_U78027.1:g.46251A>G mutType missense
BTKbase_U78027.1:g.46251A>T protEffect K19X
BTKbase_U78027.1:g.46251A>T mutType nonsense
BTKbase_U78027.1:g.46258C>A protEffect S21X
BTKbase_U78027.1:g.46258C>A mutType nonsense
BTKbase_U78027.1:g.46259delA protEffect S21X23
BTKbase_U78027.1:g.46259delA mutType frameshift
BTKbase_U78027.1:g.46270T>C protEffect F25S
BTKbase_U78027.1:g.46270T>C mutType missense
BTKbase_U78027.1:g.46276A>G protEffect K27R
BTKbase_U78027.1:g.46276A>G mutType missense
BTKbase_U78027.1:g.46910C>T protEffect P69S
BTKbase_U78027.1:g.46910C>T mutType missense
BTKbase_U78027.1:g.60726A>G protEffect K199E
BTKbase_U78027.1:g.60726A>G mutType missense
BTKbase_U78027.1:g.60733C>T protEffect P201L
BTKbase_U78027.1:g.60733C>T mutType missense
BTKbase_U78027.1:g.60788T>C protEffect V219V
BTKbase_U78027.1:g.60788T>C mutType silent
BTKbase_U78027.1:g.46278C>T protEffect R28C
BTKbase_U78027.1:g.46278C>T mutType missense
BTKbase_U78027.1:g.46280C>T protEffect R28C
BTKbase_U78027.1:g.46280C>T mutType missense
BTKbase_U78027.1:g.46279G>A protEffect R28H
BTKbase_U78027.1:g.46279G>A mutType missense
BTKbase_U78027.1:g.46279G>T protEffect R28L
BTKbase_U78027.1:g.46279G>T mutType missense
BTKbase_U78027.1:g.46279G>C protEffect R28P
BTKbase_U78027.1:g.46279G>C mutType missense
BTKbase_U78027.1:g.46278C>A protEffect R28S
BTKbase_U78027.1:g.46278C>A mutType missense
BTKbase_U78027.1:g.46283_46295del protEffect L29X52
BTKbase_U78027.1:g.46283_46295del mutType frameshift
BTKbase_U78027.1:g.46288T>C protEffect L31P
BTKbase_U78027.1:g.46288T>C mutType missense
BTKbase_U78027.1:g.46291T>C protEffect L32S
BTKbase_U78027.1:g.46291T>C mutType missense
BTKbase_U78027.1:g.46291T>G protEffect L32W
BTKbase_U78027.1:g.46291T>G mutType missense
BTKbase_U78027.1:g.46294C>T protEffect T33I
BTKbase_U78027.1:g.46294C>T mutType missense
BTKbase_U78027.1:g.46293A>C protEffect T33P
BTKbase_U78027.1:g.46293A>C mutType missense
BTKbase_U78027.1:g.46306T>C protEffect L37P
BTKbase_U78027.1:g.46306T>C mutType missense
BTKbase_U78027.1:g.46305_46306delCT protEffect S38X40
BTKbase_U78027.1:g.46305_46306delCT mutType frameshift
BTKbase_U78027.1:g.46312A>G protEffect Y39C
BTKbase_U78027.1:g.46312A>G mutType missense
BTKbase_U78027.1:g.46311T>A protEffect Y39N
BTKbase_U78027.1:g.46311T>A mutType missense
BTKbase_U78027.1:g.46312A>C protEffect Y39S
BTKbase_U78027.1:g.46312A>C mutType missense
BTKbase_U78027.1:g.46313C>A protEffect Y39X
BTKbase_U78027.1:g.46313C>A mutType nonsense
BTKbase_U78027.1:g.46315A>G protEffect Y40C
BTKbase_U78027.1:g.46315A>G mutType missense
BTKbase_U78027.1:g.46314T>A protEffect Y40N
BTKbase_U78027.1:g.46314T>A mutType missense
BTKbase_U78027.1:g.46315_46337del protEffect 40_47delinsX
BTKbase_U78027.1:g.46315_46337del mutType nonsense
BTKbase_U78027.1:g.46314_46315delTA protEffect Y40X
BTKbase_U78027.1:g.46314_46315delTA mutType nonsense
BTKbase_U78027.1:g.46322delT protEffect Y42X
BTKbase_U78027.1:g.46322delT mutType nonsense
BTKbase_U78027.1:g.46322_46323insA protEffect D43X45
BTKbase_U78027.1:g.46322_46323insA mutType frameshift
BTKbase_U78027.1:g.46333_46335delinsTT protEffect 46_46delins11
BTKbase_U78027.1:g.46333_46335delinsTT mutType frameshift
BTKbase_U78027.1:g.46335delG protEffect G47X56
BTKbase_U78027.1:g.46335delG mutType frameshift
BTKbase_U78027.1:g.46337delG protEffect G47X56
BTKbase_U78027.1:g.46337delG mutType frameshift
BTKbase_U78027.1:g.46847_46852delAGAAGA protEffect R48_R49del
BTKbase_U78027.1:g.46847_46852delAGAAGA mutType inframe
BTKbase_U78027.1:g.46847_46851delAGAAG protEffect R48X50
BTKbase_U78027.1:g.46847_46851delAGAAG mutType frameshift
BTKbase_U78027.1:g.46847_46848delAG protEffect R48X51
BTKbase_U78027.1:g.46847_46848delAG mutType frameshift
BTKbase_U78027.1:g.46861delG protEffect K52X56
BTKbase_U78027.1:g.46861delG mutType frameshift
BTKbase_U78027.1:g.46858dupT protEffect K52X
BTKbase_U78027.1:g.46858dupT mutType nonsense
BTKbase_U78027.1:g.46864delG protEffect K53X56
BTKbase_U78027.1:g.46864delG mutType frameshift
BTKbase_U78027.1:g.60746G>T protEffect E205D
BTKbase_U78027.1:g.60746G>T mutType missense
BTKbase_U78027.1:g.46865delG protEffect G54X56
BTKbase_U78027.1:g.46865delG mutType frameshift
BTKbase_U78027.1:g.46872T>C protEffect I56T
BTKbase_U78027.1:g.46872T>C mutType missense
BTKbase_U78027.1:g.46876_46877delTG protEffect D57X58
BTKbase_U78027.1:g.46876_46877delTG mutType frameshift
BTKbase_U78027.1:g.46879dupT protEffect E59X
BTKbase_U78027.1:g.46879dupT mutType nonsense
BTKbase_U78027.1:g.46881_46883delAGA protEffect 59_60delinsE
BTKbase_U78027.1:g.46881_46883delAGA mutType inframe_deletion
BTKbase_U78027.1:g.46883_46885delAAG protEffect K60del
BTKbase_U78027.1:g.46883_46885delAAG mutType inframe
BTKbase_U78027.1:g.46887T>A protEffect I61N
BTKbase_U78027.1:g.46887T>A mutType missense
BTKbase_U78027.1:g.46887T>C protEffect I61T
BTKbase_U78027.1:g.46887T>C mutType missense
BTKbase_U78027.1:g.46889delA protEffect T62X120
BTKbase_U78027.1:g.46889delA mutType frameshift
BTKbase_U78027.1:g.46896T>A protEffect V64D
BTKbase_U78027.1:g.46896T>A mutType missense
BTKbase_U78027.1:g.46895G>T protEffect V64F
BTKbase_U78027.1:g.46895G>T mutType missense
BTKbase_U78027.1:g.46903_46904delAG protEffect V67X69
BTKbase_U78027.1:g.46903_46904delAG mutType frameshift
BTKbase_U78027.1:g.46920delA protEffect N72X120
BTKbase_U78027.1:g.46920delA mutType frameshift
BTKbase_U78027.1:g.46919_46920delinsT protEffect N72X120
BTKbase_U78027.1:g.46919_46920delinsT mutType frameshift
BTKbase_U78027.1:g.46920dupA protEffect N72X84
BTKbase_U78027.1:g.46920dupA mutType frameshift
BTKbase_U78027.1:g.46931_46934delGAAA protEffect E76X119
BTKbase_U78027.1:g.46931_46934delGAAA mutType frameshift
BTKbase_U78027.1:g.46937C>T protEffect Q78X
BTKbase_U78027.1:g.46937C>T mutType nonsense
BTKbase_U78027.1:g.49781_49785delAGAAG protEffect R81X82
BTKbase_U78027.1:g.49781_49785delAGAAG mutType frameshift
BTKbase_U78027.1:g.49809delA protEffect 90_90delins31
BTKbase_U78027.1:g.49809delA mutType frameshift
BTKbase_U78027.1:g.49809_49810dupAAATGGA protEffect E90X98
BTKbase_U78027.1:g.49809_49810dupAAATGGA mutType frameshift
BTKbase_U78027.1:g.49811C>T protEffect Q91X
BTKbase_U78027.1:g.49811C>T mutType nonsense
BTKbase_U78027.1:g.49832T>G protEffect F98V
BTKbase_U78027.1:g.49832T>G mutType missense
BTKbase_U78027.1:g.49840T>G protEffect Y100X
BTKbase_U78027.1:g.49840T>G mutType nonsense
BTKbase_U78027.1:g.49848A>G protEffect Q103R
BTKbase_U78027.1:g.49848A>G mutType missense
BTKbase_U78027.1:g.51403_51404delGT protEffect V104X106
BTKbase_U78027.1:g.51403_51404delGT mutType frameshift
BTKbase_U78027.1:g.51404delT protEffect V104X120
BTKbase_U78027.1:g.51404delT mutType frameshift
BTKbase_U78027.1:g.51406delG protEffect V105X120
BTKbase_U78027.1:g.51406delG mutType frameshift
BTKbase_U78027.1:g.51412delG mutType frameshift
BTKbase_U78027.1:g.51425T>G protEffect L111R
BTKbase_U78027.1:g.51425T>G mutType missense
BTKbase_U78027.1:g.51427T>C protEffect Y112H
BTKbase_U78027.1:g.51427T>C mutType missense
BTKbase_U78027.1:g.51429C>A protEffect Y112X
BTKbase_U78027.1:g.51429C>A mutType nonsense
BTKbase_U78027.1:g.51429C>G protEffect Y112X
BTKbase_U78027.1:g.51429C>G mutType nonsense
BTKbase_U78027.1:g.51431T>A protEffect V113D
BTKbase_U78027.1:g.51431T>A mutType missense
BTKbase_U78027.1:g.51434_51436delTCT protEffect 114_115delinsS
BTKbase_U78027.1:g.51434_51436delTCT mutType inframe_deletion
BTKbase_U78027.1:g.51434_51435delinsGA protEffect F114X
BTKbase_U78027.1:g.51434_51435delinsGA mutType nonsense
BTKbase_U78027.1:g.51433_51440delTTCTCCCC protEffect F114X115
BTKbase_U78027.1:g.51433_51440delTTCTCCCC mutType frameshift
BTKbase_U78027.1:g.51437C>T protEffect S115F
BTKbase_U78027.1:g.51437C>T mutType missense
BTKbase_U78027.1:g.51442A>C protEffect T117P
BTKbase_U78027.1:g.51442A>C mutType missense
BTKbase_U78027.1:g.51465G>T protEffect W124C
BTKbase_U78027.1:g.51465G>T mutType missense
BTKbase_U78027.1:g.51463T>C protEffect W124R
BTKbase_U78027.1:g.51463T>C mutType missense
BTKbase_U78027.1:g.51464G>A protEffect W124X
BTKbase_U78027.1:g.51464G>A mutType nonsense
BTKbase_U78027.1:g.51465G>A protEffect W124X
BTKbase_U78027.1:g.51465G>A mutType nonsense
BTKbase_U78027.1:g.51466_51467ins47 mutType frameshift
BTKbase_U78027.1:g.51474G>C protEffect Q127H
BTKbase_U78027.1:g.51474G>C mutType missense
BTKbase_U78027.1:g.51478delA protEffect K129X131
BTKbase_U78027.1:g.51478delA mutType frameshift
BTKbase_U78027.1:g.60894C>T protEffect R255X
BTKbase_U78027.1:g.60894C>T mutType nonsense
BTKbase_U78027.1:g.51481delA mutType frameshift
BTKbase_U78027.1:g.58791delC protEffect R133X175
BTKbase_U78027.1:g.58791delC mutType frameshift
BTKbase_U78027.1:g.58796C>A protEffect Y134X
BTKbase_U78027.1:g.58796C>A mutType nonsense
BTKbase_U78027.1:g.58796delC protEffect Y134X
BTKbase_U78027.1:g.58796delC mutType frameshift
BTKbase_U78027.1:g.58807_58808dupACAGTGATCT protEffect L138X140
BTKbase_U78027.1:g.58807_58808dupACAGTGATCT mutType frameshift
BTKbase_U78027.1:g.58815A>T protEffect K141X
BTKbase_U78027.1:g.58815A>T mutType nonsense
BTKbase_U78027.1:g.58820T>A protEffect Y142X
BTKbase_U78027.1:g.58820T>A mutType nonsense
BTKbase_U78027.1:g.58820T>G protEffect Y142X
BTKbase_U78027.1:g.58820T>G mutType nonsense
BTKbase_U78027.1:g.58825delC protEffect P144X175
BTKbase_U78027.1:g.58825delC mutType frameshift
BTKbase_U78027.1:g.58829C>A protEffect C145X
BTKbase_U78027.1:g.58829C>A mutType nonsense
BTKbase_U78027.1:g.58835G>A protEffect W147X
BTKbase_U78027.1:g.58835G>A mutType nonsense
BTKbase_U78027.1:g.58836_58839delATCG protEffect W147X173
BTKbase_U78027.1:g.58836_58839delATCG mutType frameshift
BTKbase_U78027.1:g.58844dupG protEffect Q151X193
BTKbase_U78027.1:g.58844dupG mutType frameshift
BTKbase_U78027.1:g.58849A>G protEffect Y152C
BTKbase_U78027.1:g.58849A>G mutType missense
BTKbase_U78027.1:g.58854T>G protEffect C154G
BTKbase_U78027.1:g.58854T>G mutType missense
BTKbase_U78027.1:g.58855G>C protEffect C154S
BTKbase_U78027.1:g.58855G>C mutType missense
BTKbase_U78027.1:g.58855G>A protEffect C154Y
BTKbase_U78027.1:g.58855G>A mutType missense
BTKbase_U78027.1:g.58857T>G protEffect C155G
BTKbase_U78027.1:g.58857T>G mutType missense
BTKbase_U78027.1:g.58857T>C protEffect C155R
BTKbase_U78027.1:g.58857T>C mutType missense
BTKbase_U78027.1:g.58858G>A protEffect C155Y
BTKbase_U78027.1:g.58858G>A mutType missense
BTKbase_U78027.1:g.58865_58881delinsTGGTC protEffect 157_163delinsHGL
BTKbase_U78027.1:g.58865_58881delinsTGGTC mutType inframe
BTKbase_U78027.1:g.58864dupA protEffect Q157X193
BTKbase_U78027.1:g.58864dupA mutType frameshift
BTKbase_U78027.1:g.58866_58869delACAG protEffect T158X174
BTKbase_U78027.1:g.58866_58869delACAG mutType frameshift
BTKbase_U78027.1:g.58871_58872insT protEffect K160X
BTKbase_U78027.1:g.58871_58872insT mutType nonsense
BTKbase_U78027.1:g.58876dupA protEffect N161X193
BTKbase_U78027.1:g.58876dupA mutType frameshift
BTKbase_U78027.1:g.58888G>A protEffect C165Y
BTKbase_U78027.1:g.58888G>A mutType missense
BTKbase_U78027.1:g.58890C>T protEffect Q166X
BTKbase_U78027.1:g.58890C>T mutType nonsense
BTKbase_U78027.1:g.58904_58905insG protEffect R171X193
BTKbase_U78027.1:g.58904_58905insG mutType frameshift
BTKbase_U78027.1:g.58906_58910delGGAAT protEffect N172X191
BTKbase_U78027.1:g.58906_58910delGGAAT mutType frameshift
BTKbase_U78027.1:g.58907dupG protEffect N172X193
BTKbase_U78027.1:g.58907dupG mutType frameshift
BTKbase_U78027.1:g.59238dupT protEffect L175X193
BTKbase_U78027.1:g.59238dupT mutType frameshift
BTKbase_U78027.1:g.59260delG protEffect R182X198
BTKbase_U78027.1:g.59260delG mutType frameshift
BTKbase_U78027.1:g.59264A>C mutType missense
BTKbase_U78027.1:g.59271_59272delinsC protEffect T184P
BTKbase_U78027.1:g.59271_59272delinsC mutType frameshift
BTKbase_U78027.1:g.59266delA protEffect T184X198
BTKbase_U78027.1:g.59266delA mutType frameshift
BTKbase_U78027.1:g.59271_59272delinsT protEffect K186X198
BTKbase_U78027.1:g.59271_59272delinsT mutType frameshift
BTKbase_U78027.1:g.59271dupA protEffect K186X193
BTKbase_U78027.1:g.59271dupA mutType frameshift
BTKbase_U78027.1:g.59275_59278delTCTT protEffect P187X197
BTKbase_U78027.1:g.59275_59278delTCTT mutType frameshift
BTKbase_U78027.1:g.59279delC protEffect P189X198
BTKbase_U78027.1:g.59279delC mutType frameshift
BTKbase_U78027.1:g.59291G>T protEffect E193X
BTKbase_U78027.1:g.59291G>T mutType nonsense
BTKbase_U78027.1:g.59302G>C protEffect Q196H
BTKbase_U78027.1:g.59302G>C mutType missense
BTKbase_U78027.1:g.59300C>T protEffect Q196X
BTKbase_U78027.1:g.59300C>T mutType nonsense
BTKbase_U78027.1:g.60719_60720dupCTACATAG protEffect I197X201
BTKbase_U78027.1:g.60719_60720dupCTACATAG mutType frameshift
BTKbase_U78027.1:g.60719_60720insATACATAG protEffect I197X201
BTKbase_U78027.1:g.60719_60720insATACATAG mutType frameshift
BTKbase_U78027.1:g.60739delC protEffect P203X216
BTKbase_U78027.1:g.60739delC mutType frameshift
BTKbase_U78027.1:g.60739_60741delinsTGGTG protEffect P203X217
BTKbase_U78027.1:g.60739_60741delinsTGGTG mutType frameshift
BTKbase_U78027.1:g.60743_60744delTG protEffect 204_205delins11
BTKbase_U78027.1:g.60743_60744delTG mutType frameshift
BTKbase_U78027.1:g.60773_60776delTGAG protEffect S214X215
BTKbase_U78027.1:g.60773_60776delTGAG mutType frameshift
BTKbase_U78027.1:g.60751delC protEffect A207X216
BTKbase_U78027.1:g.60751delC mutType frameshift
BTKbase_U78027.1:g.60772delG protEffect S214X216
BTKbase_U78027.1:g.60772delG mutType frameshift
BTKbase_U78027.1:g.60773_60774delTG protEffect S214X223
BTKbase_U78027.1:g.60773_60774delTG mutType frameshift
BTKbase_U78027.1:g.60772_60907del protEffect S214X231
BTKbase_U78027.1:g.60772_60907del mutType frameshift
BTKbase_U78027.1:g.60783delA protEffect K218X228
BTKbase_U78027.1:g.60783delA mutType frameshift
BTKbase_U78027.1:g.60784delA protEffect 218_218delins11
BTKbase_U78027.1:g.60784delA mutType frameshift
BTKbase_U78027.1:g.60786delG protEffect V219X228
BTKbase_U78027.1:g.60786delG mutType frameshift
BTKbase_U78027.1:g.60787_60792delinsCC protEffect V219X227
BTKbase_U78027.1:g.60787_60792delinsCC mutType frameshift
BTKbase_U78027.1:g.60800T>G protEffect Y223X
BTKbase_U78027.1:g.60800T>G mutType nonsense
BTKbase_U78027.1:g.60802delA protEffect D224X228
BTKbase_U78027.1:g.60802delA mutType frameshift
BTKbase_U78027.1:g.60813delinsGT protEffect M228X232
BTKbase_U78027.1:g.60813delinsGT mutType frameshift
BTKbase_U78027.1:g.60816_60825del protEffect N229X273
BTKbase_U78027.1:g.60816_60825del mutType frameshift
BTKbase_U78027.1:g.60816_60817insTTAC protEffect N229X233
BTKbase_U78027.1:g.60816_60817insTTAC mutType frameshift
BTKbase_U78027.1:g.60831C>T protEffect Q234X
BTKbase_U78027.1:g.60831C>T mutType nonsense
BTKbase_U78027.1:g.60841_60844delAGGG protEffect K237X275
BTKbase_U78027.1:g.60841_60844delAGGG mutType frameshift
BTKbase_U78027.1:g.60845delT protEffect G238X276
BTKbase_U78027.1:g.60845delT mutType frameshift
BTKbase_U78027.1:g.60846delG protEffect D239X276
BTKbase_U78027.1:g.60846delG mutType frameshift
BTKbase_U78027.1:g.60849G>T protEffect E240X
BTKbase_U78027.1:g.60849G>T mutType nonsense
BTKbase_U78027.1:g.60857dupT protEffect I243X257
BTKbase_U78027.1:g.60857dupT mutType frameshift
BTKbase_U78027.1:g.60861delT protEffect L244X276
BTKbase_U78027.1:g.60861delT mutType frameshift
BTKbase_U78027.1:g.60862T>A protEffect L244X
BTKbase_U78027.1:g.60862T>A mutType nonsense
BTKbase_U78027.1:g.60870delA protEffect S247X276
BTKbase_U78027.1:g.60870delA mutType frameshift
BTKbase_U78027.1:g.60871delG protEffect S247X276
BTKbase_U78027.1:g.60871delG mutType frameshift
BTKbase_U78027.1:g.60877T>A protEffect L249X
BTKbase_U78027.1:g.60877T>A mutType nonsense
BTKbase_U78027.1:g.60884G>A protEffect W251X
BTKbase_U78027.1:g.60884G>A mutType nonsense
BTKbase_U78027.1:g.60886G>A protEffect W252X
BTKbase_U78027.1:g.60886G>A mutType nonsense
BTKbase_U78027.1:g.60887G>A protEffect W252X
BTKbase_U78027.1:g.60887G>A mutType nonsense
BTKbase_U78027.1:g.61326C>T protEffect Q260X
BTKbase_U78027.1:g.61326C>T mutType nonsense
BTKbase_U78027.1:g.61329delinsTTA protEffect E261X277
BTKbase_U78027.1:g.61329delinsTTA mutType frameshift
BTKbase_U78027.1:g.61351delA protEffect Y268X276
BTKbase_U78027.1:g.61351delA mutType frameshift
BTKbase_U78027.1:g.61357delC protEffect T270X276
BTKbase_U78027.1:g.61357delC mutType frameshift
BTKbase_U78027.1:g.61365delG protEffect E273X276
BTKbase_U78027.1:g.61365delG mutType frameshift
BTKbase_U78027.1:g.61377G>T protEffect E277X
BTKbase_U78027.1:g.61377G>T mutType nonsense
BTKbase_U78027.1:g.61386G>T protEffect E280X
BTKbase_U78027.1:g.61386G>T mutType nonsense
BTKbase_U78027.1:g.61386_61389delGAGT protEffect E280X285
BTKbase_U78027.1:g.61386_61389delGAGT mutType frameshift
BTKbase_U78027.1:g.62131G>A protEffect W281X
BTKbase_U78027.1:g.62131G>A mutType nonsense
BTKbase_U78027.1:g.62142delA protEffect H285X286
BTKbase_U78027.1:g.62142delA mutType frameshift
BTKbase_U78027.1:g.62144_62145delAT protEffect M286X291
BTKbase_U78027.1:g.62144_62145delAT mutType frameshift
BTKbase_U78027.1:g.62151G>A protEffect R288Q
BTKbase_U78027.1:g.62151G>A mutType missense
BTKbase_U78027.1:g.62150C>T protEffect R288W
BTKbase_U78027.1:g.62150C>T mutType missense
BTKbase_U78027.1:g.62150_62153delCGGA protEffect R288X294
BTKbase_U78027.1:g.62150_62153delCGGA mutType frameshift
BTKbase_U78027.1:g.62165C>T protEffect Q293X
BTKbase_U78027.1:g.62165C>T mutType nonsense
BTKbase_U78027.1:g.62169T>C protEffect L294P
BTKbase_U78027.1:g.62169T>C mutType missense
BTKbase_U78027.1:g.62172T>C protEffect L295P
BTKbase_U78027.1:g.62172T>C mutType missense
BTKbase_U78027.1:g.62173delA protEffect L295X330
BTKbase_U78027.1:g.62173delA mutType frameshift
BTKbase_U78027.1:g.62177C>T protEffect Q297X
BTKbase_U78027.1:g.62177C>T mutType nonsense
BTKbase_U78027.1:g.62779_62858del protEffect G299X321
BTKbase_U78027.1:g.62779_62858del mutType frameshift
BTKbase_U78027.1:g.62785_62787delGAA protEffect E301del
BTKbase_U78027.1:g.62785_62787delGAA mutType inframe
BTKbase_U78027.1:g.62789G>A protEffect G302E
BTKbase_U78027.1:g.62789G>A mutType missense
BTKbase_U78027.1:g.62788G>A protEffect G302R
BTKbase_U78027.1:g.62788G>A mutType missense
BTKbase_U78027.1:g.62787_62789delAGG protEffect G302del
BTKbase_U78027.1:g.62787_62789delAGG mutType inframe_deletion
BTKbase_U78027.1:g.62790_62792delAGG protEffect 302_303delinsG
BTKbase_U78027.1:g.62790_62792delAGG mutType inframe
BTKbase_U78027.1:g.62800_62801delGT protEffect V306X321
BTKbase_U78027.1:g.62800_62801delGT mutType frameshift
BTKbase_U78027.1:g.62803A>G protEffect R307G
BTKbase_U78027.1:g.62803A>G mutType missense
BTKbase_U78027.1:g.62804G>A protEffect R307K
BTKbase_U78027.1:g.62804G>A mutType missense
BTKbase_U78027.1:g.62805A>G protEffect R307R
BTKbase_U78027.1:g.62805A>G mutType missense
BTKbase_U78027.1:g.62804G>C protEffect R307T
BTKbase_U78027.1:g.62804G>C mutType missense
BTKbase_U78027.1:g.62808C>G protEffect D308E
BTKbase_U78027.1:g.62808C>G mutType missense
BTKbase_U78027.1:g.62806_62807delGA protEffect D308X321
BTKbase_U78027.1:g.62806_62807delGA mutType frameshift
BTKbase_U78027.1:g.62821delG protEffect G313X330
BTKbase_U78027.1:g.62821delG mutType frameshift
BTKbase_U78027.1:g.62826A>G protEffect G313X318
BTKbase_U78027.1:g.62826A>G mutType loss
BTKbase_U78027.1:g.62826delA protEffect K314X330
BTKbase_U78027.1:g.62826delA mutType frameshift
BTKbase_U78027.1:g.62829T>G protEffect Y315X
BTKbase_U78027.1:g.62829T>G mutType nonsense
BTKbase_U78027.1:g.62830A>G protEffect T316A
BTKbase_U78027.1:g.62830A>G mutType missense
BTKbase_U78027.1:g.62831_62832delCA protEffect T316X321
BTKbase_U78027.1:g.62831_62832delCA mutType frameshift
BTKbase_U78027.1:g.62834T>G protEffect V317G
BTKbase_U78027.1:g.62834T>G mutType missense
BTKbase_U78027.1:g.62837C>T protEffect S318F
BTKbase_U78027.1:g.62837C>T mutType missense
BTKbase_U78027.1:g.62836T>C protEffect S318P
BTKbase_U78027.1:g.62836T>C mutType missense
BTKbase_U78027.1:g.62836_62837delTC protEffect S318X321
BTKbase_U78027.1:g.62836_62837delTC mutType frameshift
BTKbase_U78027.1:g.62840T>C protEffect V319A
BTKbase_U78027.1:g.62840T>C mutType missense
BTKbase_U78027.1:g.62841_62842delGT protEffect V319X321
BTKbase_U78027.1:g.62841_62842delGT mutType frameshift
BTKbase_U78027.1:g.63038_63165del protEffect 325_368delins31
BTKbase_U78027.1:g.63038_63165del mutType frameshift
BTKbase_U78027.1:g.63039delG protEffect D326X330
BTKbase_U78027.1:g.63039delG mutType frameshift
BTKbase_U78027.1:g.63040_63052del protEffect D326X398
BTKbase_U78027.1:g.63040_63052del mutType frameshift
BTKbase_U78027.1:g.63045C>T protEffect Q328X
BTKbase_U78027.1:g.63045C>T mutType nonsense
BTKbase_U78027.1:g.63058_63065delGTCATTAT protEffect R332X345
BTKbase_U78027.1:g.63058_63065delGTCATTAT mutType frameshift
BTKbase_U78027.1:g.63060C>T protEffect H333Y
BTKbase_U78027.1:g.63060C>T mutType missense
BTKbase_U78027.1:g.63064A>C protEffect Y334S
BTKbase_U78027.1:g.63064A>C mutType missense
BTKbase_U78027.1:g.63072T>G protEffect C337G
BTKbase_U78027.1:g.63072T>G mutType missense
BTKbase_U78027.1:g.63074T>A protEffect C337X
BTKbase_U78027.1:g.63074T>A mutType nonsense
BTKbase_U78027.1:g.63080_63081dupCACA protEffect P340X349
BTKbase_U78027.1:g.63080_63081dupCACA mutType frameshift
BTKbase_U78027.1:g.63090C>T protEffect Q343X
BTKbase_U78027.1:g.63090C>T mutType nonsense
BTKbase_U78027.1:g.63100T>C protEffect L346P
BTKbase_U78027.1:g.63100T>C mutType missense
BTKbase_U78027.1:g.63100T>G protEffect L346R
BTKbase_U78027.1:g.63100T>G mutType missense
BTKbase_U78027.1:g.63102G>C protEffect A347P
BTKbase_U78027.1:g.63102G>C mutType missense
BTKbase_U78027.1:g.63105G>T protEffect E348X
BTKbase_U78027.1:g.63105G>T mutType nonsense
BTKbase_U78027.1:g.63107dupG protEffect K349X357
BTKbase_U78027.1:g.63107dupG mutType frameshift
BTKbase_U78027.1:g.63127T>A protEffect I355N
BTKbase_U78027.1:g.63127T>A mutType missense
BTKbase_U78027.1:g.63135C>T protEffect L358F
BTKbase_U78027.1:g.63135C>T mutType missense
BTKbase_U78027.1:g.63142delA protEffect N360X402
BTKbase_U78027.1:g.63142delA mutType frameshift
BTKbase_U78027.1:g.63145A>G protEffect Y361C
BTKbase_U78027.1:g.63145A>G mutType missense
BTKbase_U78027.1:g.63144T>G protEffect Y361D
BTKbase_U78027.1:g.63144T>G mutType missense
BTKbase_U78027.1:g.63146C>A protEffect Y361X
BTKbase_U78027.1:g.63146C>A mutType nonsense
BTKbase_U78027.1:g.63144_63146delTAC protEffect Y361del
BTKbase_U78027.1:g.63144_63146delTAC mutType inframe
BTKbase_U78027.1:g.63149T>G protEffect H362Q
BTKbase_U78027.1:g.63149T>G mutType missense
BTKbase_U78027.1:g.63148A>G protEffect H362R
BTKbase_U78027.1:g.63148A>G mutType missense
BTKbase_U78027.1:g.63150C>T protEffect Q363X
BTKbase_U78027.1:g.63150C>T mutType nonsense
BTKbase_U78027.1:g.63151dupA protEffect Q363X398
BTKbase_U78027.1:g.63151dupA mutType frameshift
BTKbase_U78027.1:g.63153C>G protEffect H364D
BTKbase_U78027.1:g.63153C>G mutType missense
BTKbase_U78027.1:g.63154A>C protEffect H364P
BTKbase_U78027.1:g.63154A>C mutType missense
BTKbase_U78027.1:g.63156A>T protEffect N365Y
BTKbase_U78027.1:g.63156A>T mutType missense
BTKbase_U78027.1:g.63163C>A protEffect A367E
BTKbase_U78027.1:g.63163C>A mutType missense
BTKbase_U78027.1:g.63165G>T protEffect G368X
BTKbase_U78027.1:g.63165G>T mutType nonsense
BTKbase_U78027.1:g.63892_63904del protEffect 368_372delins31
BTKbase_U78027.1:g.63892_63904del mutType frameshift
BTKbase_U78027.1:g.63894C>T protEffect L369F
BTKbase_U78027.1:g.63894C>T mutType missense
BTKbase_U78027.1:g.63895_63896delTC protEffect L369X397
BTKbase_U78027.1:g.63895_63896delTC mutType frameshift
BTKbase_U78027.1:g.63899A>G protEffect I370M
BTKbase_U78027.1:g.63899A>G mutType missense
BTKbase_U78027.1:g.63900T>C protEffect S371P
BTKbase_U78027.1:g.63900T>C mutType missense
BTKbase_U78027.1:g.63903A>G protEffect R372G
BTKbase_U78027.1:g.63903A>G mutType missense
BTKbase_U78027.1:g.63911A>C protEffect K374N
BTKbase_U78027.1:g.63911A>C mutType missense
BTKbase_U78027.1:g.63914T>G protEffect Y375X
BTKbase_U78027.1:g.63914T>G mutType nonsense
BTKbase_U78027.1:g.63920_63921dup protEffect S378X403
BTKbase_U78027.1:g.63920_63921dup mutType frameshift
BTKbase_U78027.1:g.63924C>T protEffect Q379X
BTKbase_U78027.1:g.63924C>T mutType nonsense
BTKbase_U78027.1:g.63927C>T protEffect Q380X
BTKbase_U78027.1:g.63927C>T mutType nonsense
BTKbase_U78027.1:g.63934_63936delinsTT protEffect 382_382delins21
BTKbase_U78027.1:g.63934_63936delinsTT mutType frameshift
BTKbase_U78027.1:g.63942delC protEffect P385X402
BTKbase_U78027.1:g.63942delC mutType frameshift
BTKbase_U78027.1:g.63945_63949delTCCAC protEffect 386_387delins11
BTKbase_U78027.1:g.63945_63949delTCCAC mutType frameshift
BTKbase_U78027.1:g.63955dupG protEffect G389X398
BTKbase_U78027.1:g.63955dupG mutType frameshift
BTKbase_U78027.1:g.63962A>G protEffect G391G
BTKbase_U78027.1:g.63962A>G mutType silent
BTKbase_U78027.1:g.63960G>T protEffect G391X
BTKbase_U78027.1:g.63960G>T mutType nonsense
BTKbase_U78027.1:g.63965C>A protEffect Y392X
BTKbase_U78027.1:g.63965C>A mutType nonsense
BTKbase_U78027.1:g.63964dupA protEffect Y392X
BTKbase_U78027.1:g.63964dupA mutType nonsense
BTKbase_U78027.1:g.64526G>A protEffect W395X
BTKbase_U78027.1:g.64526G>A mutType nonsense
BTKbase_U78027.1:g.64541delA protEffect K400X402
BTKbase_U78027.1:g.64541delA mutType frameshift
BTKbase_U78027.1:g.64545_64548delCCTG protEffect D401X404
BTKbase_U78027.1:g.64545_64548delCCTG mutType frameshift
BTKbase_U78027.1:g.64547T>C protEffect L402P
BTKbase_U78027.1:g.64547T>C mutType missense
BTKbase_U78027.1:g.64552_64554delTTC protEffect F404del
BTKbase_U78027.1:g.64552_64554delTTC mutType inframe_deletion
BTKbase_U78027.1:g.64561_64563delGAG protEffect E407del
BTKbase_U78027.1:g.64561_64563delGAG mutType inframe
BTKbase_U78027.1:g.64565T>C protEffect L408P
BTKbase_U78027.1:g.64565T>C mutType missense
BTKbase_U78027.1:g.64568_64569insA protEffect 409_409delins31
BTKbase_U78027.1:g.64568_64569insA mutType frameshift
BTKbase_U78027.1:g.64569dupG protEffect T410X439
BTKbase_U78027.1:g.64569dupG mutType frameshift
BTKbase_U78027.1:g.64582G>A protEffect G414R
BTKbase_U78027.1:g.64582G>A mutType missense
BTKbase_U78027.1:g.64594T>C protEffect Y418H
BTKbase_U78027.1:g.64594T>C mutType missense
BTKbase_U78027.1:g.64598G>A protEffect G419E
BTKbase_U78027.1:g.64598G>A mutType missense
BTKbase_U78027.1:g.64597G>A protEffect G419R
BTKbase_U78027.1:g.64597G>A mutType missense
BTKbase_U78027.1:g.64605G>A protEffect W421X
BTKbase_U78027.1:g.64605G>A mutType nonsense
BTKbase_U78027.1:g.64617C>A protEffect Y425X
BTKbase_U78027.1:g.64617C>A mutType nonsense
BTKbase_U78027.1:g.64620delC protEffect D426X431
BTKbase_U78027.1:g.64620delC mutType frameshift
BTKbase_U78027.1:g.64628T>A protEffect I429N
BTKbase_U78027.1:g.64628T>A mutType missense
BTKbase_U78027.1:g.64630A>G protEffect K430E
BTKbase_U78027.1:g.64630A>G mutType missense
BTKbase_U78027.1:g.64631A>G protEffect K430R
BTKbase_U78027.1:g.64631A>G mutType missense
BTKbase_U78027.1:g.64630A>T protEffect K430X
BTKbase_U78027.1:g.64630A>T mutType nonsense
BTKbase_U78027.1:g.64663G>T protEffect E441X
BTKbase_U78027.1:g.64663G>T mutType nonsense
BTKbase_U78027.1:g.64677A>C protEffect E445D
BTKbase_U78027.1:g.64677A>C mutType missense
BTKbase_U78027.1:g.64688delT protEffect M449X450
BTKbase_U78027.1:g.64688delT mutType frameshift
BTKbase_U78027.1:g.65207G>A protEffect M450I
BTKbase_U78027.1:g.65207G>A mutType missense
BTKbase_U78027.1:g.65212T>C protEffect L452P
BTKbase_U78027.1:g.65212T>C mutType missense
BTKbase_U78027.1:g.65213_65214delTT protEffect L452X454
BTKbase_U78027.1:g.65213_65214delTT mutType frameshift
BTKbase_U78027.1:g.65218A>G protEffect H454R
BTKbase_U78027.1:g.65218A>G mutType missense
BTKbase_U78027.1:g.65220G>T protEffect E455X
BTKbase_U78027.1:g.65220G>T mutType nonsense
BTKbase_U78027.1:g.65232C>T protEffect Q459X
BTKbase_U78027.1:g.65232C>T mutType nonsense
BTKbase_U78027.1:g.65236T>A protEffect L460X
BTKbase_U78027.1:g.65236T>A mutType nonsense
BTKbase_U78027.1:g.65240_65241delTG protEffect 461_462delinsX
BTKbase_U78027.1:g.65240_65241delTG mutType nonsense
BTKbase_U78027.1:g.65242G>A protEffect G462D
BTKbase_U78027.1:g.65242G>A mutType missense
BTKbase_U78027.1:g.65242G>T protEffect G462V
BTKbase_U78027.1:g.65242G>T mutType missense
BTKbase_U78027.1:g.65249C>A protEffect C464X
BTKbase_U78027.1:g.65249C>A mutType nonsense
BTKbase_U78027.1:g.65253A>T protEffect K466X
BTKbase_U78027.1:g.65253A>T mutType nonsense
BTKbase_U78027.1:g.65275_65277delTCA protEffect 473_474delinsT
BTKbase_U78027.1:g.65275_65277delTCA mutType inframe
BTKbase_U78027.1:g.65283T>G protEffect Y476D
BTKbase_U78027.1:g.65283T>G mutType missense
BTKbase_U78027.1:g.65285delC protEffect Y476X
BTKbase_U78027.1:g.65285delC mutType frameshift
BTKbase_U78027.1:g.65287T>G protEffect M477R
BTKbase_U78027.1:g.65287T>G mutType missense
BTKbase_U78027.1:g.65312C>A protEffect Y485X
BTKbase_U78027.1:g.65312C>A mutType nonsense
BTKbase_U78027.1:g.65314T>C protEffect L486P
BTKbase_U78027.1:g.65314T>C mutType missense
BTKbase_U78027.1:g.65314_65315delTG protEffect 486_486delins21
BTKbase_U78027.1:g.65314_65315delTG mutType frameshift
BTKbase_U78027.1:g.65319G>T protEffect E488X
BTKbase_U78027.1:g.65319G>T mutType nonsense
BTKbase_U78027.1:g.65324_65327delGCGC protEffect M489X498
BTKbase_U78027.1:g.65324_65327delGCGC mutType frameshift
BTKbase_U78027.1:g.65323_65326delTGCG protEffect M489X498
BTKbase_U78027.1:g.65323_65326delTGCG mutType frameshift
BTKbase_U78027.1:g.65333delC protEffect F493X499
BTKbase_U78027.1:g.65333delC mutType frameshift
BTKbase_U78027.1:g.65337C>T protEffect Q494X
BTKbase_U78027.1:g.65337C>T mutType nonsense
BTKbase_U78027.1:g.65343C>T protEffect Q496X
BTKbase_U78027.1:g.65343C>T mutType nonsense
BTKbase_U78027.1:g.65346C>T protEffect Q497X
BTKbase_U78027.1:g.65346C>T mutType nonsense
BTKbase_U78027.1:g.65355G>T protEffect E500X
BTKbase_U78027.1:g.65355G>T mutType nonsense
BTKbase_U78027.1:g.65359T>C protEffect M501T
BTKbase_U78027.1:g.65359T>C mutType missense
BTKbase_U78027.1:g.65363C>A protEffect C502X
BTKbase_U78027.1:g.65363C>A mutType nonsense
BTKbase_U78027.1:g.65362G>T protEffect C502F
BTKbase_U78027.1:g.65362G>T mutType missense
BTKbase_U78027.1:g.65363C>G protEffect C502W
BTKbase_U78027.1:g.65363C>G mutType missense
BTKbase_U78027.1:g.65368A>T protEffect D504V
BTKbase_U78027.1:g.65368A>T mutType missense
BTKbase_U78027.1:g.65368delA protEffect D504X529
BTKbase_U78027.1:g.65368delA mutType frameshift
BTKbase_U78027.1:g.65374G>T protEffect C506F
BTKbase_U78027.1:g.65374G>T mutType missense
BTKbase_U78027.1:g.65373T>C protEffect C506R
BTKbase_U78027.1:g.65373T>C mutType missense
BTKbase_U78027.1:g.65374G>A protEffect C506Y
BTKbase_U78027.1:g.65374G>A mutType missense
BTKbase_U78027.1:g.65380C>A protEffect A508D
BTKbase_U78027.1:g.65380C>A mutType missense
BTKbase_U78027.1:g.65384G>A protEffect M509I
BTKbase_U78027.1:g.65384G>A mutType missense
BTKbase_U78027.1:g.65384G>T protEffect M509I
BTKbase_U78027.1:g.65384G>T mutType missense
BTKbase_U78027.1:g.65383T>C protEffect M509T
BTKbase_U78027.1:g.65383T>C mutType missense
BTKbase_U78027.1:g.65382A>G protEffect M509V
BTKbase_U78027.1:g.65382A>G mutType missense
BTKbase_U78027.1:g.65382dupA protEffect M509X536
BTKbase_U78027.1:g.65382dupA mutType frameshift
BTKbase_U78027.1:g.65388T>A protEffect Y511N
BTKbase_U78027.1:g.65388T>A mutType missense
BTKbase_U78027.1:g.65390C>A protEffect Y511X
BTKbase_U78027.1:g.65390C>A mutType nonsense
BTKbase_U78027.1:g.65388_65389dupGAAT protEffect Y511X
BTKbase_U78027.1:g.65388_65389dupGAAT mutType nonsense
BTKbase_U78027.1:g.65392T>C protEffect L512P
BTKbase_U78027.1:g.65392T>C mutType missense
BTKbase_U78027.1:g.65392T>A protEffect L512Q
BTKbase_U78027.1:g.65392T>A mutType missense
BTKbase_U78027.1:g.65410T>G protEffect L518R
BTKbase_U78027.1:g.65410T>G mutType missense
BTKbase_U78027.1:g.65415C>G protEffect R520G
BTKbase_U78027.1:g.65415C>G mutType missense
BTKbase_U78027.1:g.65416G>A protEffect R520Q
BTKbase_U78027.1:g.65416G>A mutType missense
BTKbase_U78027.1:g.65415C>T protEffect R520X
BTKbase_U78027.1:g.65415C>T mutType nonsense
BTKbase_U78027.1:g.65419A>G protEffect D521G
BTKbase_U78027.1:g.65419A>G mutType missense
BTKbase_U78027.1:g.65418G>C protEffect D521H
BTKbase_U78027.1:g.65418G>C mutType missense
BTKbase_U78027.1:g.65418G>A protEffect D521N
BTKbase_U78027.1:g.65418G>A mutType missense
BTKbase_U78027.1:g.65422T>C protEffect L522P
BTKbase_U78027.1:g.65422T>C mutType missense
BTKbase_U78027.1:g.66782C>T protEffect A523V
BTKbase_U78027.1:g.66782C>T mutType missense
BTKbase_U78027.1:g.66781_66845del protEffect A523X527
BTKbase_U78027.1:g.66781_66845del mutType frameshift
BTKbase_U78027.1:g.66780_66781dupACTACAG protEffect A523X538
BTKbase_U78027.1:g.66780_66781dupACTACAG mutType frameshift
BTKbase_U78027.1:g.66782C>A protEffect A523E
BTKbase_U78027.1:g.66782C>A mutType missense
BTKbase_U78027.1:g.66784G>C protEffect A524P
BTKbase_U78027.1:g.66784G>C mutType missense
BTKbase_U78027.1:g.66787C>G protEffect R525G
BTKbase_U78027.1:g.66787C>G mutType missense
BTKbase_U78027.1:g.66788G>C protEffect R525P
BTKbase_U78027.1:g.66788G>C mutType missense
BTKbase_U78027.1:g.66788G>A protEffect R525Q
BTKbase_U78027.1:g.66788G>A mutType missense
BTKbase_U78027.1:g.66787C>T protEffect R525X
BTKbase_U78027.1:g.66787C>T mutType nonsense
BTKbase_U78027.1:g.66792C>G protEffect N526K
BTKbase_U78027.1:g.66792C>G mutType missense
BTKbase_U78027.1:g.66793T>A protEffect C527S
BTKbase_U78027.1:g.66793T>A mutType missense
BTKbase_U78027.1:g.66794G>T protEffect C527F
BTKbase_U78027.1:g.66794G>T mutType missense
BTKbase_U78027.1:g.66795_66798delTTTG protEffect C527X528
BTKbase_U78027.1:g.66795_66798delTTTG mutType frameshift
BTKbase_U78027.1:g.66793_66794delTG protEffect C527X535
BTKbase_U78027.1:g.66793_66794delTG mutType frameshift
BTKbase_U78027.1:g.66802delA protEffect N530X555
BTKbase_U78027.1:g.66802delA mutType frameshift
BTKbase_U78027.1:g.66811delG protEffect G533X555
BTKbase_U78027.1:g.66811delG mutType frameshift
BTKbase_U78027.1:g.66817G>T protEffect V535F
BTKbase_U78027.1:g.66817G>T mutType missense
BTKbase_U78027.1:g.66816dupT protEffect V535X536
BTKbase_U78027.1:g.66816dupT mutType frameshift
BTKbase_U78027.1:g.66824T>A protEffect V537E
BTKbase_U78027.1:g.66824T>A mutType missense
BTKbase_U78027.1:g.66826T>C protEffect S538P
BTKbase_U78027.1:g.66826T>C mutType missense
BTKbase_U78027.1:g.66828delT protEffect S538X555
BTKbase_U78027.1:g.66828delT mutType frameshift
BTKbase_U78027.1:g.66833T>C protEffect F540S
BTKbase_U78027.1:g.66833T>C mutType missense
BTKbase_U78027.1:g.66832_66841del protEffect F540X552
BTKbase_U78027.1:g.66832_66841del mutType frameshift
BTKbase_U78027.1:g.66836G>A protEffect G541D
BTKbase_U78027.1:g.66836G>A mutType missense
BTKbase_U78027.1:g.66839T>C protEffect L542P
BTKbase_U78027.1:g.66839T>C mutType missense
BTKbase_U78027.1:g.66844A>G protEffect R544G
BTKbase_U78027.1:g.66844A>G mutType missense
BTKbase_U78027.1:g.66845G>A protEffect R544K
BTKbase_U78027.1:g.66845G>A mutType missense
BTKbase_U78027.1:g.67487G>T protEffect R544S
BTKbase_U78027.1:g.67487G>T mutType missense
BTKbase_U78027.1:g.66845G>C protEffect R544T
BTKbase_U78027.1:g.66845G>C mutType missense
BTKbase_U78027.1:g.66844delA protEffect R544X555
BTKbase_U78027.1:g.66844delA mutType frameshift
BTKbase_U78027.1:g.67492T>C protEffect V546A
BTKbase_U78027.1:g.67492T>C mutType missense
BTKbase_U78027.1:g.67495_67496dupATGTCCT protEffect L547X551
BTKbase_U78027.1:g.67495_67496dupATGTCCT mutType frameshift
BTKbase_U78027.1:g.67506T>C protEffect Y551H
BTKbase_U78027.1:g.67506T>C mutType missense
BTKbase_U78027.1:g.67516C>G protEffect S554X
BTKbase_U78027.1:g.67516C>G mutType nonsense
BTKbase_U78027.1:g.67523_67544del protEffect G556X562
BTKbase_U78027.1:g.67523_67544del mutType frameshift
BTKbase_U78027.1:g.67527A>T protEffect K558X
BTKbase_U78027.1:g.67527A>T mutType nonsense
BTKbase_U78027.1:g.67531T>C protEffect F559S
BTKbase_U78027.1:g.67531T>C mutType missense
BTKbase_U78027.1:g.67537_67538delinsA protEffect V561X569
BTKbase_U78027.1:g.67537_67538delinsA mutType frameshift
BTKbase_U78027.1:g.67540G>T protEffect R562L
BTKbase_U78027.1:g.67540G>T mutType missense
BTKbase_U78027.1:g.67540G>C protEffect R562P
BTKbase_U78027.1:g.67540G>C mutType missense
BTKbase_U78027.1:g.67539C>T protEffect R562W
BTKbase_U78027.1:g.67539C>T mutType missense
BTKbase_U78027.1:g.67539_67540delinsT protEffect R562X569
BTKbase_U78027.1:g.67539_67540delinsT mutType frameshift
BTKbase_U78027.1:g.67543G>T protEffect W563L
BTKbase_U78027.1:g.67543G>T mutType missense
BTKbase_U78027.1:g.67543G>A protEffect W563X
BTKbase_U78027.1:g.67543G>A mutType nonsense
BTKbase_U78027.1:g.67549C>T protEffect P565L
BTKbase_U78027.1:g.67549C>T mutType missense
BTKbase_U78027.1:g.67548C>A protEffect P565T
BTKbase_U78027.1:g.67548C>A mutType missense
BTKbase_U78027.1:g.67551C>T protEffect P566S
BTKbase_U78027.1:g.67551C>T mutType missense
BTKbase_U78027.1:g.67553delG protEffect P566X569
BTKbase_U78027.1:g.67553delG mutType frameshift
BTKbase_U78027.1:g.67551_67552insT protEffect P566X572
BTKbase_U78027.1:g.67551_67552insT mutType frameshift
BTKbase_U78027.1:g.67556A>C protEffect E567D
BTKbase_U78027.1:g.67556A>C mutType missense
BTKbase_U78027.1:g.67554G>A protEffect E567K
BTKbase_U78027.1:g.67554G>A mutType missense
BTKbase_U78027.1:g.67554delG protEffect E567X569
BTKbase_U78027.1:g.67554delG mutType frameshift
BTKbase_U78027.1:g.67561T>C protEffect L569P
BTKbase_U78027.1:g.67561T>C mutType missense
BTKbase_U78027.1:g.67566_67570delTATAG protEffect Y571X577
BTKbase_U78027.1:g.67566_67570delTATAG mutType frameshift
BTKbase_U78027.1:g.67566delT protEffect Y571X586
BTKbase_U78027.1:g.67566delT mutType frameshift
BTKbase_U78027.1:g.67568_67569insTA protEffect S572X
BTKbase_U78027.1:g.67568_67569insTA mutType frameshift
BTKbase_U78027.1:g.67570_67571insTA protEffect S572X587
BTKbase_U78027.1:g.67570_67571insTA mutType frameshift
BTKbase_U78027.1:g.67579G>T protEffect S575I
BTKbase_U78027.1:g.67579G>T mutType missense
BTKbase_U78027.1:g.67580C>A protEffect S575R
BTKbase_U78027.1:g.67580C>A mutType missense
BTKbase_U78027.1:g.67585A>T protEffect K577I
BTKbase_U78027.1:g.67585A>T mutType missense
BTKbase_U78027.1:g.67588C>A protEffect S578Y
BTKbase_U78027.1:g.67588C>A mutType missense
BTKbase_U78027.1:g.67590G>A protEffect D579N
BTKbase_U78027.1:g.67590G>A mutType missense
BTKbase_U78027.1:g.67591A>T protEffect D579V
BTKbase_U78027.1:g.67591A>T mutType missense
BTKbase_U78027.1:g.67596T>C protEffect W581R
BTKbase_U78027.1:g.67596T>C mutType missense
BTKbase_U78027.1:g.67597G>C protEffect W581S
BTKbase_U78027.1:g.67597G>C mutType missense
BTKbase_U78027.1:g.67598G>A protEffect W581X
BTKbase_U78027.1:g.67598G>A mutType nonsense
BTKbase_U78027.1:g.67600C>A protEffect A582D
BTKbase_U78027.1:g.67600C>A mutType missense
BTKbase_U78027.1:g.67600C>T protEffect A582V
BTKbase_U78027.1:g.67600C>T mutType missense
BTKbase_U78027.1:g.67600delC protEffect A582X586
BTKbase_U78027.1:g.67600delC mutType frameshift
BTKbase_U78027.1:g.67603T>C protEffect F583S
BTKbase_U78027.1:g.67603T>C mutType missense
BTKbase_U78027.1:g.67604delT protEffect F583X586
BTKbase_U78027.1:g.67604delT mutType frameshift
BTKbase_U78027.1:g.67605G>A protEffect G584R
BTKbase_U78027.1:g.67605G>A mutType missense
BTKbase_U78027.1:g.67605G>T protEffect G584W
BTKbase_U78027.1:g.67605G>T mutType missense
BTKbase_U78027.1:g.68127G>T protEffect V585F
BTKbase_U78027.1:g.68127G>T mutType missense
BTKbase_U78027.1:g.67605delG protEffect V585X586
BTKbase_U78027.1:g.67605delG mutType frameshift
BTKbase_U78027.1:g.68133A>C protEffect M587L
BTKbase_U78027.1:g.68133A>C mutType missense
BTKbase_U78027.1:g.68134T>C protEffect M587T
BTKbase_U78027.1:g.68134T>C mutType missense
BTKbase_U78027.1:g.68138G>T protEffect W588C
BTKbase_U78027.1:g.68138G>T mutType missense
BTKbase_U78027.1:g.68136T>C protEffect W588R
BTKbase_U78027.1:g.68136T>C mutType missense
BTKbase_U78027.1:g.68137G>A protEffect W588X
BTKbase_U78027.1:g.68137G>A mutType nonsense
BTKbase_U78027.1:g.68138G>A protEffect W588X
BTKbase_U78027.1:g.68138G>A mutType nonsense
BTKbase_U78027.1:g.68138_68140delGGA protEffect 588_589delinsX
BTKbase_U78027.1:g.68138_68140delGGA mutType inframe
BTKbase_U78027.1:g.68141A>T protEffect E589D
BTKbase_U78027.1:g.68141A>T mutType missense
BTKbase_U78027.1:g.68140A>G protEffect E589G
BTKbase_U78027.1:g.68140A>G mutType missense
BTKbase_U78027.1:g.68139G>A protEffect E589K
BTKbase_U78027.1:g.68139G>A mutType missense
BTKbase_U78027.1:g.68142A>T protEffect I590F
BTKbase_U78027.1:g.68142A>T mutType missense
BTKbase_U78027.1:g.68142delA protEffect I590X648
BTKbase_U78027.1:g.68142delA mutType frameshift
BTKbase_U78027.1:g.68146A>C protEffect Y591S
BTKbase_U78027.1:g.68146A>C mutType missense
BTKbase_U78027.1:g.68147C>A protEffect Y591X
BTKbase_U78027.1:g.68147C>A mutType nonsense
BTKbase_U78027.1:g.68148T>C protEffect S592P
BTKbase_U78027.1:g.68148T>C mutType missense
BTKbase_U78027.1:g.68149C>A protEffect S592Y
BTKbase_U78027.1:g.68149C>A mutType missense
BTKbase_U78027.1:g.68155G>A protEffect G594E
BTKbase_U78027.1:g.68155G>A mutType missense
BTKbase_U78027.1:g.68154G>A protEffect G594R
BTKbase_U78027.1:g.68154G>A mutType missense
BTKbase_U78027.1:g.68154G>C protEffect G594R
BTKbase_U78027.1:g.68154G>C mutType missense
BTKbase_U78027.1:g.68156delG protEffect G594X648
BTKbase_U78027.1:g.68156delG mutType frameshift
BTKbase_U78027.1:g.68163C>A protEffect P597T
BTKbase_U78027.1:g.68163C>A mutType missense
BTKbase_U78027.1:g.68167A>G protEffect Y598C
BTKbase_U78027.1:g.68167A>G mutType missense
BTKbase_U78027.1:g.68166T>G protEffect Y598D
BTKbase_U78027.1:g.68166T>G mutType missense
BTKbase_U78027.1:g.68167A>C protEffect Y598S
BTKbase_U78027.1:g.68167A>C mutType missense
BTKbase_U78027.1:g.68168T>G protEffect Y598X
BTKbase_U78027.1:g.68168T>G mutType nonsense
BTKbase_U78027.1:g.68172A>T protEffect R600X
BTKbase_U78027.1:g.68172A>T mutType nonsense
BTKbase_U78027.1:g.68184_68185delAG protEffect S604X
BTKbase_U78027.1:g.68184_68185delAG mutType nonsense
BTKbase_U78027.1:g.68186_68187insGACAGT protEffect 604_605insDS
BTKbase_U78027.1:g.68186_68187insGACAGT mutType inframe
BTKbase_U78027.1:g.68190A>C protEffect T606P
BTKbase_U78027.1:g.68190A>C mutType missense
BTKbase_U78027.1:g.68194C>A protEffect A607D
BTKbase_U78027.1:g.68194C>A mutType missense
BTKbase_U78027.1:g.68209A>C protEffect Q612P
BTKbase_U78027.1:g.68209A>C mutType missense
BTKbase_U78027.1:g.68208C>T protEffect Q612X
BTKbase_U78027.1:g.68208C>T mutType nonsense
BTKbase_U78027.1:g.68208delC protEffect Q612X648
BTKbase_U78027.1:g.68208delC mutType frameshift
BTKbase_U78027.1:g.68212G>C protEffect G613A
BTKbase_U78027.1:g.68212G>C mutType missense
BTKbase_U78027.1:g.68212G>A protEffect G613D
BTKbase_U78027.1:g.68212G>A mutType missense
BTKbase_U78027.1:g.68218G>C protEffect R615P
BTKbase_U78027.1:g.68218G>C mutType missense
BTKbase_U78027.1:g.68217C>A protEffect R615S
BTKbase_U78027.1:g.68217C>A mutType missense
BTKbase_U78027.1:g.68220C>T protEffect L616F
BTKbase_U78027.1:g.68220C>T mutType missense
BTKbase_U78027.1:g.68220C>A protEffect L616I
BTKbase_U78027.1:g.68220C>A mutType missense
BTKbase_U78027.1:g.68220C>G protEffect L616V
BTKbase_U78027.1:g.68220C>G mutType missense
BTKbase_U78027.1:g.68222_68224delCTA protEffect 616_617delinsL
BTKbase_U78027.1:g.68222_68224delCTA mutType inframe
BTKbase_U78027.1:g.68229C>G protEffect P619A
BTKbase_U78027.1:g.68229C>G mutType missense
BTKbase_U78027.1:g.68230C>T protEffect P619L
BTKbase_U78027.1:g.68230C>T mutType missense
BTKbase_U78027.1:g.68229C>T protEffect P619S
BTKbase_U78027.1:g.68229C>T mutType missense
BTKbase_U78027.1:g.68229C>A protEffect P619T
BTKbase_U78027.1:g.68229C>A mutType missense
BTKbase_U78027.1:g.68237delG protEffect L621X648
BTKbase_U78027.1:g.68237delG mutType frameshift
BTKbase_U78027.1:g.68238G>C protEffect A622P
BTKbase_U78027.1:g.68238G>C mutType missense
BTKbase_U78027.1:g.68242C>T protEffect S623L
BTKbase_U78027.1:g.68242C>T mutType missense
BTKbase_U78027.1:g.68247A>T protEffect K625X
BTKbase_U78027.1:g.68247A>T mutType nonsense
BTKbase_U78027.1:g.68251T>G protEffect V626G
BTKbase_U78027.1:g.68251T>G mutType missense
BTKbase_U78027.1:g.68253_68257delins protEffect Y627X651
BTKbase_U78027.1:g.68253_68257delins mutType frameshift
BTKbase_U78027.1:g.68255_68256insCA protEffect T628X649
BTKbase_U78027.1:g.68255_68256insCA mutType frameshift
BTKbase_U78027.1:g.68263T>C protEffect M630T
BTKbase_U78027.1:g.68263T>C mutType missense
BTKbase_U78027.1:g.68261_68262dup protEffect M630X657
BTKbase_U78027.1:g.68261_68262dup mutType frameshift
BTKbase_U78027.1:g.68263T>A protEffect M630K
BTKbase_U78027.1:g.68263T>A mutType missense
BTKbase_U78027.1:g.68267C>G protEffect Y631X
BTKbase_U78027.1:g.68267C>G mutType nonsense
BTKbase_U78027.1:g.68266_68267delAC protEffect Y631X
BTKbase_U78027.1:g.68266_68267delAC mutType frameshift
BTKbase_U78027.1:g.68265delT protEffect Y631X648
BTKbase_U78027.1:g.68265delT mutType frameshift
BTKbase_U78027.1:g.68268delA protEffect S632X648
BTKbase_U78027.1:g.68268delA mutType frameshift
BTKbase_U78027.1:g.68272G>A protEffect C633Y
BTKbase_U78027.1:g.68272G>A mutType missense
BTKbase_U78027.1:g.68272delG protEffect C633X648
BTKbase_U78027.1:g.68272delG mutType frameshift
BTKbase_U78027.1:g.68275G>C protEffect W634S
BTKbase_U78027.1:g.68275G>C mutType missense
BTKbase_U78027.1:g.68276G>A protEffect W634X
BTKbase_U78027.1:g.68276G>A mutType nonsense
BTKbase_U78027.1:g.68278delA protEffect H635X648
BTKbase_U78027.1:g.68278delA mutType frameshift
BTKbase_U78027.1:g.68280G>T protEffect E636X
BTKbase_U78027.1:g.68280G>T mutType nonsense
BTKbase_U78027.1:g.68279_68280insTTTTAG protEffect 635_636insFX
BTKbase_U78027.1:g.68279_68280insTTTTAG mutType inframe
BTKbase_U78027.1:g.71523delA protEffect K637X648
BTKbase_U78027.1:g.71523delA mutType frameshift
BTKbase_U78027.1:g.71520_71521dupTTTTAG protEffect 636_637insFX
BTKbase_U78027.1:g.71520_71521dupTTTTAG mutType inframe
BTKbase_U78027.1:g.71524_71526delGCA protEffect A638del
BTKbase_U78027.1:g.71524_71526delGCA mutType inframe
BTKbase_U78027.1:g.71533C>T protEffect R641C
BTKbase_U78027.1:g.71533C>T mutType missense
BTKbase_U78027.1:g.71533C>G protEffect R641G
BTKbase_U78027.1:g.71533C>G mutType missense
BTKbase_U78027.1:g.71534G>A protEffect R641H
BTKbase_U78027.1:g.71534G>A mutType missense
BTKbase_U78027.1:g.71533_71539delCGTCCCA protEffect R641X646
BTKbase_U78027.1:g.71533_71539delCGTCCCA mutType frameshift
BTKbase_U78027.1:g.71537C>G protEffect P642R
BTKbase_U78027.1:g.71537C>G mutType missense
BTKbase_U78027.1:g.71537_71544delCCACTTTC protEffect P642X654
BTKbase_U78027.1:g.71537_71544delCCACTTTC mutType frameshift
BTKbase_U78027.1:g.71540C>T protEffect T643I
BTKbase_U78027.1:g.71540C>T mutType missense
BTKbase_U78027.1:g.71541delT protEffect T643X648
BTKbase_U78027.1:g.71541delT mutType frameshift
BTKbase_U78027.1:g.71544C>A protEffect F644L
BTKbase_U78027.1:g.71544C>A mutType missense
BTKbase_U78027.1:g.71543T>C protEffect F644S
BTKbase_U78027.1:g.71543T>C mutType missense
BTKbase_U78027.1:g.71543T>A protEffect F644Y
BTKbase_U78027.1:g.71543T>A mutType missense
BTKbase_U78027.1:g.71552T>G protEffect L647R
BTKbase_U78027.1:g.71552T>G mutType missense
BTKbase_U78027.1:g.71555T>C protEffect L648P
BTKbase_U78027.1:g.71555T>C mutType missense
BTKbase_U78027.1:g.71564T>G protEffect I651S
BTKbase_U78027.1:g.71564T>G mutType missense
BTKbase_U78027.1:g.71564T>C protEffect I651T
BTKbase_U78027.1:g.71564T>C mutType missense
BTKbase_U78027.1:g.71564delT protEffect I651X652
BTKbase_U78027.1:g.71564delT mutType frameshift
BTKbase_U78027.1:g.71567T>C protEffect L652P
BTKbase_U78027.1:g.71567T>C mutType missense
BTKbase_U78027.1:g.46174dupG mutType upstream
BTKbase_U78027.1:g.46338G>A protEffect R48X76
BTKbase_U78027.1:g.46338G>A mutType gain
BTKbase_U78027.1:g.46946G>C protEffect R81X119
BTKbase_U78027.1:g.46946G>C mutType insertion
BTKbase_U78027.1:g.46937_46951del protEffect Q78X114
BTKbase_U78027.1:g.46937_46951del mutType cryptic
BTKbase_U78027.1:g.51401A>T protEffect V103X119
BTKbase_U78027.1:g.51401A>T mutType gain
BTKbase_U78027.1:g.51401A>C mutType insertion
BTKbase_U78027.1:g.51401A>G protEffect 103_104insSVFSSTQ
BTKbase_U78027.1:g.51401A>G mutType inframe
BTKbase_U78027.1:g.51402G>A protEffect 103_104insSVFSSTQ
BTKbase_U78027.1:g.51402G>A mutType inframe
BTKbase_U78027.1:g.51485G>A protEffect 104_131delinsX
BTKbase_U78027.1:g.51485G>A mutType loss
BTKbase_U78027.1:g.58784A>C protEffect V131_S174del
BTKbase_U78027.1:g.58784A>C mutType loss
BTKbase_U78027.1:g.51485G>T protEffect 104_131delinsX
BTKbase_U78027.1:g.51485G>T mutType deletion
BTKbase_U78027.1:g.58785G>A protEffect V131_S174del
BTKbase_U78027.1:g.58785G>A mutType loss
BTKbase_U78027.1:g.60908G>T mutType loss
BTKbase_U78027.1:g.61324G>A protEffect Q260_E280del
BTKbase_U78027.1:g.61324G>A mutType loss
BTKbase_U78027.1:g.61392G>A protEffect Q260_E280del
BTKbase_U78027.1:g.61392G>A mutType loss
BTKbase_U78027.1:g.61388G>A protEffect Q260_E280del
BTKbase_U78027.1:g.61388G>A mutType loss
BTKbase_U78027.1:g.62183G>A protEffect W281_T324del
BTKbase_U78027.1:g.62183G>A mutType loss
BTKbase_U78027.1:g.62859delG mutType loss
BTKbase_U78027.1:g.62862A>T protEffect K300X321
BTKbase_U78027.1:g.62862A>T mutType loss
BTKbase_U78027.1:g.62861G>T protEffect K300X321
BTKbase_U78027.1:g.62861G>T mutType loss
BTKbase_U78027.1:g.63890A>T protEffect L369X398
BTKbase_U78027.1:g.63890A>T mutType loss
BTKbase_U78027.1:g.64518A>T protEffect 384_384delins91
BTKbase_U78027.1:g.64518A>T mutType loss
BTKbase_U78027.1:g.63968delT protEffect G393X409
BTKbase_U78027.1:g.63968delT mutType gain
BTKbase_U78027.1:g.64692G>T protEffect G393X426
BTKbase_U78027.1:g.64692G>T mutType loss
BTKbase_U78027.1:g.64697T>G protEffect M450X451
BTKbase_U78027.1:g.64697T>G mutType gain
BTKbase_U78027.1:g.66769_66772delTTTG protEffect A523X527
BTKbase_U78027.1:g.66769_66772delTTTG mutType loss
BTKbase_U78027.1:g.66779A>C protEffect A523X527
BTKbase_U78027.1:g.66779A>C mutType deletion
BTKbase_U78027.1:g.66846G>C protEffect R544X545
BTKbase_U78027.1:g.66846G>C mutType gain
BTKbase_U78027.1:g.67610G>A protEffect E599_T628del
BTKbase_U78027.1:g.67610G>A mutType loss
BTKbase_U78027.1:g.68283G>A protEffect V626_E636del
BTKbase_U78027.1:g.68283G>A mutType inframe
C1QAbase_D0007:g.2687C>T protEffect Q208X
C1QAbase_D0007:g.2687C>T mutType nonsense
C1QBbase_D0111:g.7335G>A protEffect G42D
C1QBbase_D0111:g.7335G>A mutType missense
C1QBbase_D0111:g.8907C>T protEffect R177X
C1QBbase_D0111:g.8907C>T mutType nonsense
C1QBbase_D0111:g.9108G>A protEffect G244R
C1QBbase_D0111:g.9108G>A mutType missense
C1QCbase_D0008:g.1491G>A protEffect G34R
C1QCbase_D0008:g.1491G>A mutType missense
C1QCbase_D0008:g.4618C>T protEffect R69X
C1QCbase_D0008:g.4618C>T mutType nonsense
C1QCbase_D0008:g.4626delC protEffect P71X137
C1QCbase_D0008:g.4626delC mutType frameshift
C1QCbase_D0008:g.4639G>A protEffect G76R
C1QCbase_D0008:g.4639G>A mutType missense
C1Sbase_C1S_DNA:g.5447C>G protEffect Y204X
C1Sbase_C1S_DNA:g.5447C>G mutType nonsense
C1Sbase_D0009:g.7961_7964delTTTG protEffect F378X409
C1Sbase_D0009:g.7961_7964delTTTG mutType frameshift
C1Sbase_D0009:g.10626G>T protEffect E597X
C1Sbase_D0009:g.10626G>T mutType nonsense
C1Sbase_D0009:g.10404C>T protEffect R523X
C1Sbase_D0009:g.10404C>T mutType nonsense
C1Sbase_C1S_DNA:g.10626G>T protEffect E597X
C1Sbase_C1S_DNA:g.10626G>T mutType nonsense
C1Sbase_C1S_DNA:g.10726G>A protEffect G630E
C1Sbase_C1S_DNA:g.10726G>A mutType missense
C2base_D0094:g.2151G>A protEffect C131Y
C2base_D0094:g.2151G>A mutType missense
C2base_D0094:g.9059G>C protEffect E318D
C2base_D0094:g.9059G>C mutType missense
C2base_D0094:g.7326_7353del protEffect V281X282
C2base_D0094:g.7326_7353del mutType frameshift
C2base_D0094:g.16300G>A protEffect G464R
C2base_D0094:g.16300G>A mutType missense
C3base_D0106:g.10970G>A protEffect D549N
C3base_D0106:g.10970G>A mutType missense
C3base_D0106:g.10973T>C protEffect S550P
C3base_D0106:g.10973T>C mutType missense
C3base_D0106:g.10981G>A protEffect W552X
C3base_D0106:g.10981G>A mutType nonsense
C3base_D0106:g.11896G>A protEffect R592Q
C3base_D0106:g.11896G>A mutType missense
C3base_D0106:g.19119_19179del protEffect S765X771
C3base_D0106:g.19119_19179del mutType frameshift
C3base_D0106:g.23958C>T protEffect R848X
C3base_D0106:g.23958C>T mutType nonsense
C3base_D0106:g.27182_27183insT protEffect L1039X1105
C3base_D0106:g.27182_27183insT mutType frameshift
C3base_D0106:g.28580C>G protEffect Y1081X
C3base_D0106:g.28580C>G mutType nonsense
C3base_D0106:g.28185_28186insT protEffect F1059X1105
C3base_D0106:g.28185_28186insT mutType frameshift
C3base_D0106:g.9143G>T protEffect G335X341
C3base_D0106:g.9143G>T mutType deletion
C3base_D0106:g.43362A>G mutType inframe
C5base_D0107:g.1067C>T protEffect Q19X
C5base_D0107:g.1067C>T mutType nonsense
C5base_D0107:g.27854A>G protEffect G334X337
C5base_D0107:g.27854A>G mutType frameshift
C5base_D0107:g.33896_33897delinsCTCT protEffect E628X649
C5base_D0107:g.33896_33897delinsCTCT mutType frameshift
C5base_D0107:g.88510C>T protEffect R1476X
C5base_D0107:g.88510C>T mutType nonsense
C6base_D0108:g.18158delC protEffect P79X122
C6base_D0108:g.18158delC mutType frameshift
C6base_D0108:g.40140delG protEffect Q274X319
C6base_D0108:g.40140delG mutType frameshift
C6base_D0108:g.45142delC protEffect Q380X386
C6base_D0108:g.45142delC mutType frameshift
C6base_D0108:g.62884delG protEffect D627X630
C6base_D0108:g.62884delG mutType frameshift
C7base_D0109:g.49590G>A protEffect C475Y
C7base_D0109:g.49590G>A mutType missense
C8Bbase_D0010:g.10088C>T protEffect Q91X
C8Bbase_D0010:g.10088C>T mutType nonsense
C8Bbase_D0010:g.26012C>T protEffect R428X
C8Bbase_D0010:g.26012C>T mutType nonsense
C8Bbase_D0010:g.21098_21099dupGGCTGTG protEffect L350X357
C8Bbase_D0010:g.21098_21099dupGGCTGTG mutType frameshift
C8Bbase_D0010:g.10153delC protEffect T112X134
C8Bbase_D0010:g.10153delC mutType frameshift
C8Bbase_D0010:g.14868delC protEffect P202X206
C8Bbase_D0010:g.14868delC mutType frameshift
C8Bbase_D0010:g.10178C>T protEffect R121X
C8Bbase_D0010:g.10178C>T mutType nonsense
C8Bbase_D0010:g.17378C>T protEffect R274X
C8Bbase_D0010:g.17378C>T mutType nonsense
C9base_D0110:g.23357C>A protEffect C54X
C9base_D0110:g.23357C>A mutType nonsense
C9base_D0110:g.24307C>T protEffect R154X
C9base_D0110:g.24307C>T mutType nonsense
C9base_D0110:g.24193C>T protEffect R116X
C9base_D0110:g.24193C>T mutType nonsense
C9base_D0110:g.24202T>G protEffect C119G
C9base_D0110:g.24202T>G mutType missense
C9base_D0110:g.58679C>G protEffect S427X
C9base_D0110:g.58679C>G mutType nonsense
CASP10base_D0012:g.25946C>T protEffect L242F
CASP10base_D0012:g.25946C>T mutType missense
CASP10base_D0012:g.27207G>A protEffect V367I
CASP10base_D0012:g.27207G>A mutType missense
CASP8base_D0013:g.19791C>T protEffect R248W
CASP8base_D0013:g.19791C>T mutType missense
CD19base_D0112:g.5221dupA protEffect K324X328
CD19base_D0112:g.5221dupA mutType frameshift
CD19base_D0112:g.6679_6680delGA protEffect E462X465
CD19base_D0112:g.6679_6680delGA mutType frameshift
CD247base_D0115:g.80235C>T protEffect Q70X
CD247base_D0115:g.80235C>T mutType nonsense
CD247base_D0115:g.86554_86555insC protEffect D139X273
CD247base_D0115:g.86554_86555insC mutType frameshift
CD3Dbase_D0014:g.2604C>T protEffect R68X
CD3Dbase_D0014:g.2604C>T mutType nonsense
CD3Dbase_D0014:g.3149C>A protEffect C93X
CD3Dbase_D0014:g.3149C>A mutType nonsense
CD3Dbase_D0014:g.3143A>G protEffect 92_136delinsT
CD3Dbase_D0014:g.3143A>G mutType inframe
CD3Ebase_HSCD3E05:g.87G>A protEffect W57X
CD3Ebase_HSCD3E05:g.87G>A mutType nonsense
CD3Ebase_HSCD3E06:g.173T>C mutType loss
CD3Gbase_HSTCR3G1:g.1380A>G protEffect M1V
CD3Gbase_HSTCR3G1:g.1380A>G mutType initiation_codon
CD3Gbase_HSTCR3G3:g.27G>C protEffect G27X29
CD3Gbase_HSTCR3G3:g.27G>C mutType loss
CD3Gbase_HSTCR3G3:g.153A>T protEffect K69X
CD3Gbase_HSTCR3G3:g.153A>T mutType nonsense
CD40Lbase_D0015:g.1086C>T protEffect R11X
CD40Lbase_D0015:g.1086C>T mutType nonsense
CD40Lbase_D0015:g.1127_1128ins protEffect M25X84
CD40Lbase_D0015:g.1127_1128ins mutType frameshift
CD40Lbase_D0015:g.1133T>G protEffect Y26X
CD40Lbase_D0015:g.1133T>G mutType nonsense
CD40Lbase_D0015:g.1142delT protEffect T29X36
CD40Lbase_D0015:g.1142delT mutType frameshift
CD40Lbase_D0015:g.1162T>G protEffect M36R
CD40Lbase_D0015:g.1162T>G mutType missense
CD40Lbase_D0015:g.1167G>C protEffect G38R
CD40Lbase_D0015:g.1167G>C mutType missense
CD40Lbase_D0015:g.1171C>A protEffect S39X
CD40Lbase_D0015:g.1171C>A mutType nonsense
CD40Lbase_D0015:g.1197A>T protEffect R48X
CD40Lbase_D0015:g.1197A>T mutType nonsense
CD40Lbase_D0015:g.1211G>A protEffect K52K
CD40Lbase_D0015:g.1211G>A mutType missense
CD40Lbase_D0015:g.1209A>T protEffect K52X
CD40Lbase_D0015:g.1209A>T mutType nonsense
CD40Lbase_D0015:g.3073_3076delATAG protEffect I53X65
CD40Lbase_D0015:g.3073_3076delATAG mutType frameshift
CD40Lbase_D0015:g.3074_3077delTAGA protEffect I53X65
CD40Lbase_D0015:g.3074_3077delTAGA mutType frameshift
CD40Lbase_D0015:g.3082G>T protEffect E56X
CD40Lbase_D0015:g.3082G>T mutType nonsense
CD40Lbase_D0015:g.3100_3116del protEffect D62X79
CD40Lbase_D0015:g.3100_3116del mutType frameshift
CD40Lbase_D0015:g.3124C>T protEffect Q70X
CD40Lbase_D0015:g.3124C>T mutType nonsense
CD40Lbase_D0015:g.3124_3125delCA protEffect Q70X84
CD40Lbase_D0015:g.3124_3125delCA mutType frameshift
CD40Lbase_D0015:g.3126_3127insT protEffect R71X
CD40Lbase_D0015:g.3126_3127insT mutType frameshift
CD40Lbase_D0015:g.3132C>A protEffect C72X
CD40Lbase_D0015:g.3132C>A mutType nonsense
CD40Lbase_D0015:g.3142G>T protEffect E76X
CD40Lbase_D0015:g.3142G>T mutType nonsense
CD40Lbase_D0015:g.3158_3159insT protEffect L81X85
CD40Lbase_D0015:g.3158_3159insT mutType frameshift
CD40Lbase_D0015:g.3158dupT protEffect L81X85
CD40Lbase_D0015:g.3158dupT mutType frameshift
CD40Lbase_D0015:g.3202A>T protEffect K96X
CD40Lbase_D0015:g.3202A>T mutType nonsense
CD40Lbase_D0015:g.7185delA protEffect I98X100
CD40Lbase_D0015:g.7185delA mutType frameshift
CD40Lbase_D0015:g.7193dupA protEffect N101X112
CD40Lbase_D0015:g.7193dupA mutType frameshift
CD40Lbase_D0015:g.7210_7216delAAAGAAA protEffect K107X125
CD40Lbase_D0015:g.7210_7216delAAAGAAA mutType frameshift
CD40Lbase_D0015:g.7213G>T protEffect E108X
CD40Lbase_D0015:g.7213G>T mutType nonsense
CD40Lbase_D0015:g.7214delA protEffect E108X127
CD40Lbase_D0015:g.7214delA mutType frameshift
CD40Lbase_D0015:g.7225G>T protEffect E112X
CD40Lbase_D0015:g.7225G>T mutType nonsense
CD40Lbase_D0015:g.7237G>C protEffect G116R
CD40Lbase_D0015:g.7237G>C mutType missense
CD40Lbase_D0015:g.7237G>A protEffect D97X108
CD40Lbase_D0015:g.7237G>A mutType frameshift
CD40Lbase_D0015:g.9184C>A protEffect A123E
CD40Lbase_D0015:g.9184C>A mutType missense
CD40Lbase_D0015:g.9183delG protEffect A123X127
CD40Lbase_D0015:g.9183delG mutType frameshift
CD40Lbase_D0015:g.9190A>G protEffect H125R
CD40Lbase_D0015:g.9190A>G mutType missense
CD40Lbase_D0015:g.9193T>C protEffect V126A
CD40Lbase_D0015:g.9193T>C mutType missense
CD40Lbase_D0015:g.9193T>A protEffect V126D
CD40Lbase_D0015:g.9193T>A mutType missense
CD40Lbase_D0015:g.9192_9193insA protEffect V126X129
CD40Lbase_D0015:g.9192_9193insA mutType frameshift
CD40Lbase_D0015:g.9200T>A protEffect S128R
CD40Lbase_D0015:g.9200T>A mutType missense
CD40Lbase_D0015:g.9202A>G protEffect E129G
CD40Lbase_D0015:g.9202A>G mutType missense
CD40Lbase_D0015:g.9197_9198insA protEffect S128X129
CD40Lbase_D0015:g.9197_9198insA mutType frameshift
CD40Lbase_D0015:g.9197_9198insG protEffect S128X129
CD40Lbase_D0015:g.9197_9198insG mutType frameshift
CD40Lbase_D0015:g.9211_9212insA protEffect S132X133
CD40Lbase_D0015:g.9211_9212insA mutType frameshift
CD40Lbase_D0015:g.11845_11846ins12 protEffect 136_137ins4aa
CD40Lbase_D0015:g.11845_11846ins12 mutType inframe
CD40Lbase_D0015:g.11845_11846ins9 protEffect 136_137ins3aa
CD40Lbase_D0015:g.11845_11846ins9 mutType inframe
CD40Lbase_D0015:g.11851C>T protEffect Q139X
CD40Lbase_D0015:g.11851C>T mutType nonsense
CD40Lbase_D0015:g.11856G>T protEffect W140C
CD40Lbase_D0015:g.11856G>T mutType missense
CD40Lbase_D0015:g.11854T>G protEffect W140G
CD40Lbase_D0015:g.11854T>G mutType missense
CD40Lbase_D0015:g.11854T>C protEffect W140R
CD40Lbase_D0015:g.11854T>C mutType missense
CD40Lbase_D0015:g.11855G>A protEffect W140X
CD40Lbase_D0015:g.11855G>A mutType nonsense
CD40Lbase_D0015:g.11860_11865delGAAAAA protEffect E142_K143del
CD40Lbase_D0015:g.11860_11865delGAAAAA mutType inframe
CD40Lbase_D0015:g.11864A>C protEffect K143T
CD40Lbase_D0015:g.11864A>C mutType missense
CD40Lbase_D0015:g.11867G>A protEffect G144E
CD40Lbase_D0015:g.11867G>A mutType missense
CD40Lbase_D0015:g.11865_11866insA protEffect 144_144delins21
CD40Lbase_D0015:g.11865_11866insA mutType frameshift
CD40Lbase_D0015:g.11871C>A protEffect Y145X
CD40Lbase_D0015:g.11871C>A mutType nonsense
CD40Lbase_D0015:g.11869_11871delTAC protEffect Y145del
CD40Lbase_D0015:g.11869_11871delTAC mutType inframe
CD40Lbase_D0015:g.11876C>A protEffect T147N
CD40Lbase_D0015:g.11876C>A mutType missense
CD40Lbase_D0015:g.11880delG protEffect M148X153
CD40Lbase_D0015:g.11880delG mutType frameshift
CD40Lbase_D0015:g.11880_11884delGAGCA protEffect M148X162
CD40Lbase_D0015:g.11880_11884delGAGCA mutType frameshift
CD40Lbase_D0015:g.11900T>C protEffect L155P
CD40Lbase_D0015:g.11900T>C mutType missense
CD40Lbase_D0015:g.11906delA protEffect N157X161
CD40Lbase_D0015:g.11906delA mutType frameshift
CD40Lbase_D0015:g.11908delG protEffect G158X161
CD40Lbase_D0015:g.11908delG mutType frameshift
CD40Lbase_D0015:g.11918T>C protEffect L161P
CD40Lbase_D0015:g.11918T>C mutType missense
CD40Lbase_D0015:g.11931delA protEffect R165X190
CD40Lbase_D0015:g.11931delA mutType frameshift
CD40Lbase_D0015:g.11932C>T protEffect Q166X
CD40Lbase_D0015:g.11932C>T mutType nonsense
CD40Lbase_D0015:g.11935G>C protEffect G167R
CD40Lbase_D0015:g.11935G>C mutType missense
CD40Lbase_D0015:g.11935G>T protEffect G167X
CD40Lbase_D0015:g.11935G>T mutType nonsense
CD40Lbase_D0015:g.11941T>G protEffect Y169D
CD40Lbase_D0015:g.11941T>G mutType missense
CD40Lbase_D0015:g.11941T>A protEffect Y169N
CD40Lbase_D0015:g.11941T>A mutType missense
CD40Lbase_D0015:g.11945A>G protEffect Y170C
CD40Lbase_D0015:g.11945A>G mutType missense
CD40Lbase_D0015:g.11944_11952delTATATCTAT protEffect Y170_Y172del
CD40Lbase_D0015:g.11944_11952delTATATCTAT mutType inframe
CD40Lbase_D0015:g.11947_11949delATC protEffect I171del
CD40Lbase_D0015:g.11947_11949delATC mutType inframe
CD40Lbase_D0015:g.11947_11948delAT protEffect I171X199
CD40Lbase_D0015:g.11947_11948delAT mutType frameshift
CD40Lbase_D0015:g.11954C>A protEffect A173D
CD40Lbase_D0015:g.11954C>A mutType missense
CD40Lbase_D0015:g.11957A>G protEffect Q174R
CD40Lbase_D0015:g.11957A>G mutType missense
CD40Lbase_D0015:g.11956C>T protEffect Q174X
CD40Lbase_D0015:g.11956C>T mutType nonsense
CD40Lbase_D0015:g.11957_11958delAA protEffect Q174X199
CD40Lbase_D0015:g.11957_11958delAA mutType frameshift
CD40Lbase_D0015:g.11963C>T protEffect T176I
CD40Lbase_D0015:g.11963C>T mutType missense
CD40Lbase_D0015:g.11975delA protEffect 180_180delins11
CD40Lbase_D0015:g.11975delA mutType frameshift
CD40Lbase_D0015:g.11982_11983insATA protEffect 182_183insI
CD40Lbase_D0015:g.11982_11983insATA mutType inframe
CD40Lbase_D0015:g.11987C>A protEffect S184X
CD40Lbase_D0015:g.11987C>A mutType nonsense
CD40Lbase_D0015:g.11992C>T protEffect Q186X
CD40Lbase_D0015:g.11992C>T mutType nonsense
CD40Lbase_D0015:g.11995delG protEffect A187X190
CD40Lbase_D0015:g.11995delG mutType frameshift
CD40Lbase_D0015:g.12013_12014insCT protEffect L193X196
CD40Lbase_D0015:g.12013_12014insCT mutType frameshift
CD40Lbase_D0015:g.12013_12014insCAGCC protEffect L193X197
CD40Lbase_D0015:g.12013_12014insCAGCC mutType frameshift
CD40Lbase_D0015:g.12020T>C protEffect L195P
CD40Lbase_D0015:g.12020T>C mutType missense
CD40Lbase_D0015:g.12025delT protEffect S197X241
CD40Lbase_D0015:g.12025delT mutType frameshift
CD40Lbase_D0015:g.12034A>T protEffect R200X
CD40Lbase_D0015:g.12034A>T mutType nonsense
CD40Lbase_D0015:g.12040G>T protEffect E202X
CD40Lbase_D0015:g.12040G>T mutType nonsense
CD40Lbase_D0015:g.12040_12041insA protEffect E202X230
CD40Lbase_D0015:g.12040_12041insA mutType frameshift
CD40Lbase_D0015:g.12044G>T protEffect R203I
CD40Lbase_D0015:g.12044G>T mutType missense
CD40Lbase_D0015:g.12059C>A protEffect A208D
CD40Lbase_D0015:g.12059C>A mutType missense
CD40Lbase_D0015:g.12072_12073delCA protEffect H212X229
CD40Lbase_D0015:g.12072_12073delCA mutType frameshift
CD40Lbase_D0015:g.12090C>A protEffect C218X
CD40Lbase_D0015:g.12090C>A mutType nonsense
CD40Lbase_D0015:g.12087_12088insT protEffect C218X230
CD40Lbase_D0015:g.12087_12088insT mutType frameshift
CD40Lbase_D0015:g.12094C>T protEffect Q220X
CD40Lbase_D0015:g.12094C>T mutType nonsense
CD40Lbase_D0015:g.12097C>T protEffect Q221X
CD40Lbase_D0015:g.12097C>T mutType nonsense
CD40Lbase_D0015:g.12101C>T protEffect S222F
CD40Lbase_D0015:g.12101C>T mutType missense
CD40Lbase_D0015:g.12106C>T protEffect H224Y
CD40Lbase_D0015:g.12106C>T mutType missense
CD40Lbase_D0015:g.12113G>C protEffect G226A
CD40Lbase_D0015:g.12113G>C mutType missense
CD40Lbase_D0015:g.12116G>T protEffect G227V
CD40Lbase_D0015:g.12116G>T mutType missense
CD40Lbase_D0015:g.12115G>T protEffect G227X
CD40Lbase_D0015:g.12115G>T mutType nonsense
CD40Lbase_D0015:g.12115_12117delGGA protEffect G227del
CD40Lbase_D0015:g.12115_12117delGGA mutType inframe
CD40Lbase_D0015:g.12119_12120insATT protEffect V228X263
CD40Lbase_D0015:g.12119_12120insATT mutType frameshift
CD40Lbase_D0015:g.12123T>A protEffect F229L
CD40Lbase_D0015:g.12123T>A mutType missense
CD40Lbase_D0015:g.12128T>C protEffect L231S
CD40Lbase_D0015:g.12128T>C mutType missense
CD40Lbase_D0015:g.12130C>T protEffect Q232X
CD40Lbase_D0015:g.12130C>T mutType nonsense
CD40Lbase_D0015:g.12139G>C protEffect A235P
CD40Lbase_D0015:g.12139G>C mutType missense
CD40Lbase_D0015:g.12143C>A protEffect S236X
CD40Lbase_D0015:g.12143C>A mutType nonsense
CD40Lbase_D0015:g.12146T>A protEffect V237E
CD40Lbase_D0015:g.12146T>A mutType missense
CD40Lbase_D0015:g.12145_12146insC protEffect V237X243
CD40Lbase_D0015:g.12145_12146insC mutType frameshift
CD40Lbase_D0015:g.12162_12163delTG protEffect T242X284
CD40Lbase_D0015:g.12162_12163delTG mutType frameshift
CD40Lbase_D0015:g.12193T>A protEffect F253I
CD40Lbase_D0015:g.12193T>A mutType missense
CD40Lbase_D0015:g.12197C>T protEffect T254M
CD40Lbase_D0015:g.12197C>T mutType missense
CD40Lbase_D0015:g.12206G>A protEffect G257D
CD40Lbase_D0015:g.12206G>A mutType missense
CD40Lbase_D0015:g.12205G>A protEffect G257S
CD40Lbase_D0015:g.12205G>A mutType missense
CD40Lbase_D0015:g.12209T>C protEffect L258S
CD40Lbase_D0015:g.12209T>C mutType missense
CD40Lbase_D0015:g.12212delT protEffect L259X312
CD40Lbase_D0015:g.12212delT mutType frameshift
CD40Lbase_D0015:g.865A>C mutType upstream
CD40Lbase_D0015:g.1212G>T protEffect M25X26
CD40Lbase_D0015:g.1212G>T mutType frameshift
CD40Lbase_D0015:g.1212G>A protEffect M25X26
CD40Lbase_D0015:g.1212G>A mutType frameshift
CD40Lbase_D0015:g.3068_3076delAATAGATAG protEffect I53X65
CD40Lbase_D0015:g.3068_3076delAATAGATAG mutType frameshift
CD40Lbase_D0015:g.3069_3076delATAGATAG protEffect I53X65
CD40Lbase_D0015:g.3069_3076delATAGATAG mutType frameshift
CD40Lbase_D0015:g.3205G>A protEffect I53_K96del
CD40Lbase_D0015:g.3205G>A mutType inframe
CD40Lbase_D0015:g.3206T>A protEffect I53_K96del
CD40Lbase_D0015:g.3206T>A mutType inframe
CD40Lbase_D0015:g.7242G>A protEffect D97X108
CD40Lbase_D0015:g.7242G>A mutType frameshift
CD40Lbase_D0015:g.9162G>A protEffect 116_137delinsV
CD40Lbase_D0015:g.9162G>A mutType inframe
CD40Lbase_D0015:g.7238G>A protEffect D97X108
CD40Lbase_D0015:g.7238G>A mutType frameshift
CD40Lbase_D0015:g.9162G>C protEffect 116_137delinsV
CD40Lbase_D0015:g.9162G>C mutType inframe
CD40Lbase_D0015:g.8248A>T protEffect G116X127
CD40Lbase_D0015:g.8248A>T mutType frameshift
CD40Lbase_D0015:g.11845delG protEffect V137X139
CD40Lbase_D0015:g.11845delG mutType frameshift
CD40Lbase_D0015:g.9226G>C protEffect 116_137delinsV
CD40Lbase_D0015:g.9226G>C mutType inframe
CD40Lbase_D0015:g.9227T>C protEffect 116_137delinsV
CD40Lbase_D0015:g.9227T>C mutType inframe
CD55base_D0104:g.2023G>A protEffect W87X
CD55base_D0104:g.2023G>A mutType nonsense
CD55base_D0104:g.5132C>T protEffect R170X
CD55base_D0104:g.5132C>T mutType nonsense
CD55base_D0104:g.6250C>T protEffect S199L
CD55base_D0104:g.6250C>T mutType missense
CD55base_D0104:g.2025C>A protEffect W87X88
CD55base_D0104:g.2025C>A mutType deletion
CD59base_D0016:g.20063delC protEffect A41X79
CD59base_D0016:g.20063delC mutType frameshift
CD79Abase_D0017:g.2924A>G protEffect Q127X141
CD79Abase_D0017:g.2924A>G mutType frameshift
CD79Bbase_D0126:g.2550G>A protEffect G138S
CD79Bbase_D0126:g.2550G>A mutType missense
CD8Abase_D0018:g.1044G>A protEffect G111S
CD8Abase_D0018:g.1044G>A mutType missense
CD8Abase_M27161.1:g.1044G>A protEffect G111S
CD8Abase_M27161.1:g.1044G>A mutType missense
CEBPEbase_D0019:g.2063_2067delTGACC protEffect P83X202
CEBPEbase_D0019:g.2063_2067delTGACC mutType frameshift
CEBPEbase_D0019:g.2323dupA protEffect K170X204
CEBPEbase_D0019:g.2323dupA mutType frameshift
CEBPEbase_D0019:g.3225T>C protEffect V218A
CEBPEbase_D0019:g.3225T>C mutType missense
CFDbase_D0027:g.317660C>A protEffect S42X
CFDbase_D0027:g.317660C>A mutType nonsense
CFDbase_D0027:g.320088T>G protEffect V213G
CFDbase_D0027:g.320088T>G mutType missense
CFDbase_D0027:g.320090T>C protEffect C214R
CFDbase_D0027:g.320090T>C mutType missense
CFHbase_D0040:g.51581A>G protEffect R78G
CFHbase_D0040:g.51581A>G mutType missense
CFHbase_AL049744.8:g.94051T>A protEffect N516K
CFHbase_AL049744.8:g.94051T>A mutType missense
CFHbase_AL049744.8:g.106839_106840insA protEffect N767X774
CFHbase_AL049744.8:g.106839_106840insA mutType frameshift
CFHbase_AL049744.8:g.119116G>T protEffect Q950H
CFHbase_AL049744.8:g.119116G>T mutType missense
CFHbase_AL049744.8:g.125619C>T protEffect S1191L
CFHbase_AL049744.8:g.125619C>T mutType missense
CFHbase_AL049744.8:g.125637T>C protEffect V1197A
CFHbase_AL049744.8:g.125637T>C mutType missense
CFHbase_AL049744.8:g.103553A>G protEffect R567G
CFHbase_AL049744.8:g.103553A>G mutType missense
CFIbase_D0040:g.36359G>A protEffect S90N
CFIbase_D0040:g.36359G>A mutType missense
CFIbase_D0040:g.41282G>A protEffect G162D
CFIbase_D0040:g.41282G>A mutType missense
CFIbase_D0040:g.41345A>G protEffect H183R
CFIbase_D0040:g.41345A>G mutType missense
CFIbase_D0040:g.42416T>G protEffect C247G
CFIbase_D0040:g.42416T>G mutType missense
CFIbase_D0040:g.42449G>A protEffect A258T
CFIbase_D0040:g.42449G>A mutType missense
CFIbase_D0040:g.42623G>A protEffect S268S
CFIbase_D0040:g.42623G>A mutType missense
CFIbase_D0040:g.50480A>G protEffect I306V
CFIbase_D0040:g.50480A>G mutType missense
CFIbase_D0040:g.53448T>C protEffect I340T
CFIbase_D0040:g.53448T>C mutType missense
CFIbase_D0040:g.53712A>C protEffect Y369S
CFIbase_D0040:g.53712A>C mutType missense
CFIbase_D0040:g.56574A>T protEffect H418L
CFIbase_D0040:g.56574A>T mutType missense
CFIbase_D0040:g.56741C>T protEffect R474X
CFIbase_D0040:g.56741C>T mutType nonsense
CFPbase_D0066:g.3781C>T protEffect R79X
CFPbase_D0066:g.3781C>T mutType nonsense
CFPbase_D0066:g.3844C>T protEffect R100W
CFPbase_D0066:g.3844C>T mutType missense
CFPbase_D0066:g.4487C>T protEffect R161X
CFPbase_D0066:g.4487C>T mutType nonsense
CFPbase_D0066:g.4565C>T protEffect Q187X
CFPbase_D0066:g.4565C>T mutType nonsense
CFPbase_D0066:g.4761C>G protEffect S206X
CFPbase_D0066:g.4761C>G mutType nonsense
CFPbase_D0066:g.4814_4815delTG protEffect C224X227
CFPbase_D0066:g.4814_4815delTG mutType frameshift
CFPbase_D0066:g.5121_5128delGCCTTGGG protEffect G261X353
CFPbase_D0066:g.5121_5128delGCCTTGGG mutType frameshift
CFPbase_D0066:g.5231G>T protEffect G298V
CFPbase_D0066:g.5231G>T mutType missense
CFPbase_D0066:g.5552T>G protEffect W321G
CFPbase_D0066:g.5552T>G mutType missense
CFPbase_D0066:g.5553G>C protEffect W321S
CFPbase_D0066:g.5553G>C mutType missense
CFPbase_D0066:g.5619A>G protEffect Q343R
CFPbase_D0066:g.5619A>G mutType missense
CFPbase_D0066:g.5627C>T protEffect R346C
CFPbase_D0066:g.5627C>T mutType missense
CIITAbase_D0058:g.31469G>T protEffect E381X
CIITAbase_D0058:g.31469G>T mutType nonsense
CIITAbase_D0058:g.47354G>A protEffect 1078_1106delinsE
CIITAbase_D0058:g.47354G>A mutType inframe
CIITAbase_D0058:g.31734T>C protEffect L469P
CIITAbase_D0058:g.31734T>C mutType missense
CIITAbase_D0058:g.32391G>A protEffect W688X
CIITAbase_D0058:g.32391G>A mutType nonsense
CIITAbase_D0058:g.35092T>C protEffect F962S
CIITAbase_D0058:g.35092T>C mutType missense
CIITAbase_D0058:g.43309_43311delCAT protEffect 1026_1027delinsN
CIITAbase_D0058:g.43309_43311delCAT mutType inframe
CIITAbase_D0058:g.47109_47120del protEffect 1050_1078delinsS
CIITAbase_D0058:g.47109_47120del mutType inframe
CTSCbase_D0022:g.1119delG protEffect L7X64
CTSCbase_D0022:g.1119delG mutType frameshift
CTSCbase_D0022:g.1170C>A protEffect C24X
CTSCbase_D0022:g.1170C>A mutType nonsense
CTSCbase_D0022:g.26313G>A protEffect G139R
CTSCbase_D0022:g.26313G>A mutType missense
CTSCbase_D0022:g.1188C>A protEffect C30X
CTSCbase_D0022:g.1188C>A mutType nonsense
CTSCbase_D0022:g.1194T>G protEffect Y32X
CTSCbase_D0022:g.1194T>G mutType nonsense
CTSCbase_D0022:g.26278A>C protEffect H127P
CTSCbase_D0022:g.26278A>C mutType missense
CTSCbase_D0022:g.42564G>C protEffect R272P
CTSCbase_D0022:g.42564G>C mutType missense
CTSCbase_D0022:g.1211_1214delCCTG protEffect T38X63
CTSCbase_D0022:g.1211_1214delCCTG mutType frameshift
CTSCbase_D0022:g.42600G>A protEffect S284N
CTSCbase_D0022:g.42600G>A mutType missense
CTSCbase_D0022:g.1214G>C protEffect W39S
CTSCbase_D0022:g.1214G>C mutType missense
CTSCbase_D0022:g.1243C>T protEffect Q49X
CTSCbase_D0022:g.1243C>T mutType nonsense
CTSCbase_D0022:g.3715_3738del protEffect Y67_A74del
CTSCbase_D0022:g.3715_3738del mutType inframe
CTSCbase_D0022:g.3721C>T protEffect Q69X
CTSCbase_D0022:g.3721C>T mutType nonsense
CTSCbase_D0022:g.26220A>T protEffect K108X
CTSCbase_D0022:g.26220A>T mutType nonsense
CTSCbase_D0022:g.26334delT protEffect S146X175
CTSCbase_D0022:g.26334delT mutType frameshift
CTSCbase_D0022:g.29533_29539delCATACAT protEffect 189_191delins11
CTSCbase_D0022:g.29533_29539delCATACAT mutType frameshift
CTSCbase_D0022:g.29595C>T protEffect R210X
CTSCbase_D0022:g.29595C>T mutType nonsense
CTSCbase_D0022:g.38241G>A protEffect A253X282
CTSCbase_D0022:g.38241G>A mutType splicing
CTSCbase_D0022:g.42603C>T protEffect P285L
CTSCbase_D0022:g.42603C>T mutType missense
CTSCbase_D0022:g.44263G>T protEffect G297V
CTSCbase_D0022:g.44263G>T mutType missense
CTSCbase_D0022:g.44296G>A protEffect G308E
CTSCbase_D0022:g.44296G>A mutType missense
CTSCbase_D0022:g.44274G>A protEffect G301S
CTSCbase_D0022:g.44274G>A mutType missense
CTSCbase_D0022:g.44529G>C protEffect G386R
CTSCbase_D0022:g.44529G>C mutType missense
CTSCbase_D0022:g.44514delC protEffect L381X393
CTSCbase_D0022:g.44514delC mutType frameshift
CTSCbase_D0022:g.38190G>T protEffect D236Y
CTSCbase_D0022:g.38190G>T mutType missense
CTSCbase_D0022:g.42527T>C protEffect S260P
CTSCbase_D0022:g.42527T>C mutType missense
CTSCbase_D0022:g.26342_26343insATGT protEffect V149X158
CTSCbase_D0022:g.26342_26343insATGT mutType frameshift
CTSCbase_D0022:g.29522G>A protEffect W185X
CTSCbase_D0022:g.29522G>A mutType nonsense
CTSCbase_D0022:g.29554T>C protEffect L196P
CTSCbase_D0022:g.29554T>C mutType missense
CTSCbase_D0022:g.29589dupC protEffect H208X223
CTSCbase_D0022:g.29589dupC mutType frameshift
CTSCbase_D0022:g.29596_29597delGA protEffect R210X222
CTSCbase_D0022:g.29596_29597delGA mutType frameshift
CTSCbase_D0022:g.38188G>A protEffect W235X
CTSCbase_D0022:g.38188G>A mutType nonsense
CTSCbase_D0022:g.42621G>A protEffect C291Y
CTSCbase_D0022:g.42621G>A mutType missense
CTSCbase_D0022:g.38229G>T protEffect V249F
CTSCbase_D0022:g.38229G>T mutType missense
CTSCbase_D0022:g.38232C>T protEffect R250X
CTSCbase_D0022:g.38232C>T mutType nonsense
CTSCbase_D0022:g.38239A>T protEffect Q252L
CTSCbase_D0022:g.38239A>T mutType missense
CTSCbase_D0022:g.42564G>A protEffect R272H
CTSCbase_D0022:g.42564G>A mutType missense
CTSCbase_D0022:g.44608A>G protEffect Y412C
CTSCbase_D0022:g.44608A>G mutType missense
CTSCbase_D0022:g.42606A>G protEffect Q286R
CTSCbase_D0022:g.42606A>G mutType missense
CTSCbase_D0022:g.42605C>T protEffect Q286X
CTSCbase_D0022:g.42605C>T mutType nonsense
CTSCbase_D0022:g.42629T>C protEffect Y294H
CTSCbase_D0022:g.42629T>C mutType missense
CTSCbase_D0022:g.44271G>A protEffect G300S
CTSCbase_D0022:g.44271G>A mutType missense
CTSCbase_D0022:g.44713A>G protEffect E447G
CTSCbase_D0022:g.44713A>G mutType missense
CTSCbase_D0022:g.44275G>T protEffect G301V
CTSCbase_D0022:g.44275G>T mutType missense
CTSCbase_D0022:g.44283T>A protEffect Y304N
CTSCbase_D0022:g.44283T>A mutType missense
CTSCbase_D0022:g.44285C>A protEffect Y304X
CTSCbase_D0022:g.44285C>A mutType nonsense
CTSCbase_D0022:g.44308A>G protEffect Q312R
CTSCbase_D0022:g.44308A>G mutType missense
CTSCbase_D0022:g.44320T>G protEffect L316R
CTSCbase_D0022:g.44320T>G mutType missense
CTSCbase_D0022:g.44641G>C protEffect W423S
CTSCbase_D0022:g.44641G>C mutType missense
CTSCbase_D0022:g.44329A>G protEffect E319G
CTSCbase_D0022:g.44329A>G mutType missense
CTSCbase_D0022:g.44357_44363delTTCTCCA protEffect D328X331
CTSCbase_D0022:g.44357_44363delTTCTCCA mutType frameshift
CTSCbase_D0022:g.44388C>T protEffect R339C
CTSCbase_D0022:g.44388C>T mutType missense
CTSCbase_D0022:g.44401_44402delCT protEffect S343X
CTSCbase_D0022:g.44401_44402delCT mutType nonsense
CTSCbase_D0022:g.44413A>G protEffect Y347C
CTSCbase_D0022:g.44413A>G mutType missense
CTSCbase_D0022:g.44420delA protEffect 349_349delins11
CTSCbase_D0022:g.44420delA mutType frameshift
CTSCbase_D0022:g.44429delT protEffect Y352X
CTSCbase_D0022:g.44429delT mutType nonsense
CTSCbase_D0022:g.44660G>C protEffect W429C
CTSCbase_D0022:g.44660G>C mutType missense
CTSCbase_D0022:g.44586C>A protEffect H405N
CTSCbase_D0022:g.44586C>A mutType missense
CTSCbase_D0022:g.44587A>G protEffect H405R
CTSCbase_D0022:g.44587A>G mutType missense
CTSCbase_D0022:g.44586_44588delCAT protEffect H405del
CTSCbase_D0022:g.44586_44588delCAT mutType inframe
CTSCbase_D0022:g.44642G>A protEffect W423X
CTSCbase_D0022:g.44642G>A mutType nonsense
CTSCbase_D0022:g.44659G>A protEffect W429X
CTSCbase_D0022:g.44659G>A mutType nonsense
CXCR4base_D0023:g.4169C>T protEffect R334X
CXCR4base_D0023:g.4169C>T mutType nonsense
CXCR4base_D0023:g.4175G>T protEffect G336X
CXCR4base_D0023:g.4175G>T mutType nonsense
CXCR4base_D0023:g.4182C>G protEffect S338X
CXCR4base_D0023:g.4182C>G mutType nonsense
CXCR4base_D0023:g.4185_4186delCT protEffect S339X342
CXCR4base_D0023:g.4185_4186delCT mutType frameshift
CXCR4base_D0023:g.4190delT protEffect S341X365
CXCR4base_D0023:g.4190delT mutType frameshift
CXCR4base_D0023:g.4196G>T protEffect E343X
CXCR4base_D0023:g.4196G>T mutType nonsense
CYBAbase_D0024:g.1030T>A protEffect M1K
CYBAbase_D0024:g.1030T>A mutType missense
CYBAbase_D0024:g.1035C>T protEffect Q3X
CYBAbase_D0024:g.1035C>T mutType nonsense
CYBAbase_D0024:g.1054G>A protEffect W9X
CYBAbase_D0024:g.1054G>A mutType nonsense
CYBAbase_D0024:g.3943G>T protEffect G25V
CYBAbase_D0024:g.3943G>T mutType missense
CYBAbase_D0024:g.1055G>A protEffect W9X
CYBAbase_D0024:g.1055G>A mutType nonsense
CYBAbase_D0024:g.3940G>A protEffect G24E
CYBAbase_D0024:g.3940G>A mutType missense
CYBAbase_D0024:g.3939G>A protEffect G24R
CYBAbase_D0024:g.3939G>A mutType missense
CYBAbase_D0024:g.3976G>A protEffect W36X
CYBAbase_D0024:g.3976G>A mutType nonsense
CYBAbase_D0024:g.8472C>T protEffect A124V
CYBAbase_D0024:g.8472C>T mutType missense
CYBAbase_D0024:g.4890T>A protEffect L51Q
CYBAbase_D0024:g.4890T>A mutType missense
CYBAbase_D0024:g.4893T>C protEffect L52P
CYBAbase_D0024:g.4893T>C mutType missense
CYBAbase_D0024:g.4896A>T protEffect E53V
CYBAbase_D0024:g.4896A>T mutType missense
CYBAbase_D0024:g.4909dupG protEffect K58X212
CYBAbase_D0024:g.4909dupG mutType frameshift
CYBAbase_D0024:g.4902C>G protEffect P55R
CYBAbase_D0024:g.4902C>G mutType missense
CYBAbase_D0024:g.4904dupC protEffect R56X212
CYBAbase_D0024:g.4904dupC mutType frameshift
CYBAbase_D0024:g.5268C>T protEffect R90W
CYBAbase_D0024:g.5268C>T mutType missense
CYBAbase_D0024:g.4909delG protEffect G57X73
CYBAbase_D0024:g.4909delG mutType frameshift
CYBAbase_D0024:g.4912delG protEffect K58X73
CYBAbase_D0024:g.4912delG mutType frameshift
CYBAbase_D0024:g.5223delG protEffect A75X77
CYBAbase_D0024:g.5223delG mutType frameshift
CYBAbase_D0024:g.5246delC protEffect P82X190
CYBAbase_D0024:g.5246delC mutType frameshift
CYBAbase_D0024:g.5269G>A protEffect R90Q
CYBAbase_D0024:g.5269G>A mutType missense
CYBAbase_D0024:g.5261C>G protEffect Y87X
CYBAbase_D0024:g.5261C>G mutType nonsense
CYBAbase_D0024:g.5261C>A protEffect Y87X
CYBAbase_D0024:g.5261C>A mutType nonsense
CYBAbase_D0024:g.5268C>G protEffect R90G
CYBAbase_D0024:g.5268C>G mutType missense
CYBAbase_D0024:g.5269G>C protEffect R90P
CYBAbase_D0024:g.5269G>C mutType missense
CYBAbase_D0024:g.5281A>G protEffect H94R
CYBAbase_D0024:g.5281A>G mutType missense
CYBAbase_D0024:g.5845G>T protEffect L96L
CYBAbase_D0024:g.5845G>T mutType missense
CYBAbase_D0024:g.5852_5858delGTGCCCG protEffect V99X188
CYBAbase_D0024:g.5852_5858delGTGCCCG mutType frameshift
CYBAbase_D0024:g.5896C>A protEffect C113X
CYBAbase_D0024:g.5896C>A mutType nonsense
CYBAbase_D0024:g.5911C>A protEffect S118R
CYBAbase_D0024:g.5911C>A mutType missense
CYBAbase_D0024:g.5926G>A protEffect L123L
CYBAbase_D0024:g.5926G>A mutType missense
CYBAbase_D0024:g.8471G>T protEffect A124S
CYBAbase_D0024:g.8471G>T mutType missense
CYBAbase_D0024:g.8474G>A protEffect A125T
CYBAbase_D0024:g.8474G>A mutType missense
CYBAbase_D0024:g.8486_8489delGAGC protEffect 129_130delins61
CYBAbase_D0024:g.8486_8489delGAGC mutType frameshift
CYBAbase_D0024:g.8500delC protEffect P133X190
CYBAbase_D0024:g.8500delC mutType frameshift
CYBAbase_D0024:g.8509delC protEffect P136X190
CYBAbase_D0024:g.8509delC mutType frameshift
CYBAbase_D0024:g.8568C>A protEffect P156Q
CYBAbase_D0024:g.8568C>A mutType missense
CYBAbase_D0024:g.8573_8585del protEffect R158X186
CYBAbase_D0024:g.8573_8585del mutType frameshift
CYBAbase_D0024:g.8672_8705del protEffect 191_202delins18
CYBAbase_D0024:g.8672_8705del mutType frameshift
CYBAbase_D0024:g.5830_5865del protEffect L96X243
CYBAbase_D0024:g.5830_5865del mutType indel
CYBBbase_D0025:g.3069_3071delinsGGT protEffect 30_31delinsXV
CYBBbase_D0025:g.3069_3071delinsGGT mutType complex
CYBBbase_D0025:g.12985_12986delinsAT protEffect 110_111delinsLY
CYBBbase_D0025:g.12985_12986delinsAT mutType complex
CYBBbase_D0025:g.16991_16992ins protEffect R198X227
CYBBbase_D0025:g.16991_16992ins mutType frameshift
CYBBbase_D0025:g.27416_27423delinsTGTTGTA mutType frameshift
CYBBbase_D0025:g.1016T>A protEffect M1K
CYBBbase_D0025:g.1016T>A mutType missense
CYBBbase_D0025:g.1016T>G protEffect M1R
CYBBbase_D0025:g.1016T>G mutType missense
CYBBbase_D0025:g.1015A>G protEffect M1V
CYBBbase_D0025:g.1015A>G mutType missense
CYBBbase_D0025:g.1020dupG protEffect N3X8
CYBBbase_D0025:g.1020dupG mutType frameshift
CYBBbase_D0025:g.1022dupA protEffect N3X8
CYBBbase_D0025:g.1022dupA mutType frameshift
CYBBbase_D0025:g.1026G>A protEffect W4X
CYBBbase_D0025:g.1026G>A mutType nonsense
CYBBbase_D0025:g.1025G>A protEffect W4X
CYBBbase_D0025:g.1025G>A mutType nonsense
CYBBbase_D0025:g.1028_1041del protEffect A5X29
CYBBbase_D0025:g.1028_1041del mutType frameshift
CYBBbase_D0025:g.1041delG protEffect G9X21
CYBBbase_D0025:g.1041delG mutType frameshift
CYBBbase_D0025:g.1040_1041dupAGGG protEffect G9X35
CYBBbase_D0025:g.1040_1041dupAGGG mutType frameshift
CYBBbase_D0025:g.1041dupG protEffect L10X34
CYBBbase_D0025:g.1041dupG mutType frameshift
CYBBbase_D0025:g.1054delG protEffect V14X21
CYBBbase_D0025:g.1054delG mutType frameshift
CYBBbase_D0025:g.3026delT protEffect L16X21
CYBBbase_D0025:g.3026delT mutType frameshift
CYBBbase_D0025:g.3024_3025insCATT protEffect L16X35
CYBBbase_D0025:g.3024_3025insCATT mutType frameshift
CYBBbase_D0025:g.3028delG protEffect V17X21
CYBBbase_D0025:g.3028delG mutType frameshift
CYBBbase_D0025:g.3033G>C protEffect W18C
CYBBbase_D0025:g.3033G>C mutType missense
CYBBbase_D0025:g.3032G>A protEffect W18X
CYBBbase_D0025:g.3032G>A mutType nonsense
CYBBbase_D0025:g.3031dupT protEffect W18X34
CYBBbase_D0025:g.3031dupT mutType frameshift
CYBBbase_D0025:g.3037G>C protEffect G20R
CYBBbase_D0025:g.3037G>C mutType missense
CYBBbase_D0025:g.3037G>A protEffect G20R
CYBBbase_D0025:g.3037G>A mutType missense
CYBBbase_D0025:g.3045_3049delinsA protEffect N22X59
CYBBbase_D0025:g.3045_3049delinsA mutType frameshift
CYBBbase_D0025:g.3046_3047dupAACG protEffect V23X35
CYBBbase_D0025:g.3046_3047dupAACG mutType frameshift
CYBBbase_D0025:g.3059_3062delTCTG protEffect V27X59
CYBBbase_D0025:g.3059_3062delTCTG mutType frameshift
CYBBbase_D0025:g.3063G>A protEffect W28X
CYBBbase_D0025:g.3063G>A mutType nonsense
CYBBbase_D0025:g.3062G>A protEffect W28X
CYBBbase_D0025:g.3062G>A mutType nonsense
CYBBbase_D0025:g.3064delT protEffect Y29X60
CYBBbase_D0025:g.3064delT mutType frameshift
CYBBbase_D0025:g.3069C>A protEffect Y30X
CYBBbase_D0025:g.3069C>A mutType nonsense
CYBBbase_D0025:g.3071_3072insC protEffect R31X34
CYBBbase_D0025:g.3071_3072insC mutType frameshift
CYBBbase_D0025:g.3073delG protEffect V32X60
CYBBbase_D0025:g.3073delG mutType frameshift
CYBBbase_D0025:g.3078T>A protEffect Y33X
CYBBbase_D0025:g.3078T>A mutType nonsense
CYBBbase_D0025:g.3084delT protEffect I35X60
CYBBbase_D0025:g.3084delT mutType frameshift
CYBBbase_D0025:g.3091A>T protEffect K38X
CYBBbase_D0025:g.3091A>T mutType nonsense
CYBBbase_D0025:g.3100T>G protEffect Y41D
CYBBbase_D0025:g.3100T>G mutType missense
CYBBbase_D0025:g.3100delT protEffect Y41X60
CYBBbase_D0025:g.3100delT mutType frameshift
CYBBbase_D0025:g.3100_3101insT protEffect Y41X102
CYBBbase_D0025:g.3100_3101insT mutType frameshift
CYBBbase_D0025:g.3104C>G protEffect T42R
CYBBbase_D0025:g.3104C>G mutType missense
CYBBbase_D0025:g.3105_3109delinsTTTC protEffect T42X60
CYBBbase_D0025:g.3105_3109delinsTTTC mutType frameshift
CYBBbase_D0025:g.3106A>T protEffect R43X
CYBBbase_D0025:g.3106A>T mutType nonsense
CYBBbase_D0025:g.3113T>G protEffect L45R
CYBBbase_D0025:g.3113T>G mutType missense
CYBBbase_D0025:g.4428C>G protEffect S48X
CYBBbase_D0025:g.4428C>G mutType nonsense
CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT protEffect 48_53delinsPAXIS
CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT mutType inframe
CYBBbase_D0025:g.4427_4444delinsTTAATTT protEffect S48X50
CYBBbase_D0025:g.4427_4444delinsTTAATTT mutType frameshift
CYBBbase_D0025:g.4443C>A protEffect A53D
CYBBbase_D0025:g.4443C>A mutType missense
CYBBbase_D0025:g.4444dupC protEffect R54X102
CYBBbase_D0025:g.4444dupC mutType frameshift
CYBBbase_D0025:g.4445A>G protEffect R54G
CYBBbase_D0025:g.4445A>G mutType missense
CYBBbase_D0025:g.4446G>T protEffect R54M
CYBBbase_D0025:g.4446G>T mutType missense
CYBBbase_D0025:g.4447G>C protEffect R54S
CYBBbase_D0025:g.4447G>C mutType missense
CYBBbase_D0025:g.4445_4450delAGGGCC protEffect R54_A55del
CYBBbase_D0025:g.4445_4450delAGGGCC mutType inframe
CYBBbase_D0025:g.4449C>A protEffect A55D
CYBBbase_D0025:g.4449C>A mutType missense
CYBBbase_D0025:g.4452C>T protEffect P56L
CYBBbase_D0025:g.4452C>T mutType missense
CYBBbase_D0025:g.4455C>A protEffect A57E
CYBBbase_D0025:g.4455C>A mutType missense
CYBBbase_D0025:g.4461G>T protEffect C59F
CYBBbase_D0025:g.4461G>T mutType missense
CYBBbase_D0025:g.4460T>C protEffect C59R
CYBBbase_D0025:g.4460T>C mutType missense
CYBBbase_D0025:g.4462C>G protEffect C59W
CYBBbase_D0025:g.4462C>G mutType missense
CYBBbase_D0025:g.4461G>A protEffect C59Y
CYBBbase_D0025:g.4461G>A mutType missense
CYBBbase_D0025:g.4462C>A protEffect C59X
CYBBbase_D0025:g.4462C>A mutType nonsense
CYBBbase_D0025:g.4470delT protEffect F62X66
CYBBbase_D0025:g.4470delT mutType frameshift
CYBBbase_D0025:g.4474C>G protEffect N63K
CYBBbase_D0025:g.4474C>G mutType missense
CYBBbase_D0025:g.4475T>C protEffect C64R
CYBBbase_D0025:g.4475T>C mutType missense
CYBBbase_D0025:g.4477C>A protEffect C64X
CYBBbase_D0025:g.4477C>A mutType nonsense
CYBBbase_D0025:g.4479T>G protEffect M65R
CYBBbase_D0025:g.4479T>G mutType missense
CYBBbase_D0025:g.4482T>C protEffect L66P
CYBBbase_D0025:g.4482T>C mutType missense
CYBBbase_D0025:g.4480dupG protEffect L66X102
CYBBbase_D0025:g.4480dupG mutType frameshift
CYBBbase_D0025:g.4495dupA protEffect V71X102
CYBBbase_D0025:g.4495dupA mutType frameshift
CYBBbase_D0025:g.4502C>T protEffect R73X
CYBBbase_D0025:g.4502C>T mutType nonsense
CYBBbase_D0025:g.4511delC protEffect L76X107
CYBBbase_D0025:g.4511delC mutType frameshift
CYBBbase_D0025:g.4527delG protEffect G81X107
CYBBbase_D0025:g.4527delG mutType frameshift
CYBBbase_D0025:g.4527dupG protEffect G81X102
CYBBbase_D0025:g.4527dupG mutType frameshift
CYBBbase_D0025:g.4537G>A protEffect S48_A84del
CYBBbase_D0025:g.4537G>A mutType inframe
CYBBbase_D0025:g.4537G>T protEffect A84A
CYBBbase_D0025:g.4537G>T mutType missense
CYBBbase_D0025:g.4536delC protEffect A84X107
CYBBbase_D0025:g.4536delC mutType frameshift
CYBBbase_D0025:g.12910C>A protEffect C85X
CYBBbase_D0025:g.12910C>A mutType nonsense
CYBBbase_D0025:g.12926C>T protEffect R91X
CYBBbase_D0025:g.12926C>T mutType nonsense
CYBBbase_D0025:g.12930delG protEffect R92X107
CYBBbase_D0025:g.12930delG mutType frameshift
CYBBbase_D0025:g.12941_12945delAGGAA protEffect R96X100
CYBBbase_D0025:g.12941_12945delAGGAA mutType frameshift
CYBBbase_D0025:g.12950delA protEffect T99X107
CYBBbase_D0025:g.12950delA mutType frameshift
CYBBbase_D0025:g.12957A>G protEffect H101R
CYBBbase_D0025:g.12957A>G mutType missense
CYBBbase_D0025:g.12956C>T protEffect H101Y
CYBBbase_D0025:g.12956C>T mutType missense
CYBBbase_D0025:g.12973G>A protEffect W106X
CYBBbase_D0025:g.12973G>A mutType nonsense
CYBBbase_D0025:g.12975T>G protEffect M107R
CYBBbase_D0025:g.12975T>G mutType missense
CYBBbase_D0025:g.12976dupG protEffect I108X122
CYBBbase_D0025:g.12976dupG mutType frameshift
CYBBbase_D0025:g.12981_12982delCA protEffect A109X121
CYBBbase_D0025:g.12981_12982delCA mutType frameshift
CYBBbase_D0025:g.12985_12986delTC protEffect L110X121
CYBBbase_D0025:g.12985_12986delTC mutType frameshift
CYBBbase_D0025:g.12989T>C protEffect S112P
CYBBbase_D0025:g.12989T>C mutType missense
CYBBbase_D0025:g.14599delG protEffect A113X127
CYBBbase_D0025:g.14599delG mutType frameshift
CYBBbase_D0025:g.14605C>A protEffect H115Q
CYBBbase_D0025:g.14605C>A mutType missense
CYBBbase_D0025:g.14603C>T protEffect H115Y
CYBBbase_D0025:g.14603C>T mutType missense
CYBBbase_D0025:g.14614delA protEffect A118X127
CYBBbase_D0025:g.14614delA mutType frameshift
CYBBbase_D0025:g.14616A>G protEffect H119R
CYBBbase_D0025:g.14616A>G mutType missense
CYBBbase_D0025:g.14616dupA protEffect H119X122
CYBBbase_D0025:g.14616dupA mutType frameshift
CYBBbase_D0025:g.14619T>C protEffect L120P
CYBBbase_D0025:g.14619T>C mutType missense
CYBBbase_D0025:g.14620_14635del protEffect L120X122
CYBBbase_D0025:g.14620_14635del mutType frameshift
CYBBbase_D0025:g.14630G>T protEffect E124X
CYBBbase_D0025:g.14630G>T mutType nonsense
CYBBbase_D0025:g.14635G>T protEffect W125C
CYBBbase_D0025:g.14635G>T mutType missense
CYBBbase_D0025:g.14635G>A protEffect W125X
CYBBbase_D0025:g.14635G>A mutType nonsense
CYBBbase_D0025:g.14634G>A protEffect W125X
CYBBbase_D0025:g.14634G>A mutType nonsense
CYBBbase_D0025:g.14645_14646dupAATG protEffect A129X134
CYBBbase_D0025:g.14645_14646dupAATG mutType frameshift
CYBBbase_D0025:g.14649G>T protEffect R130L
CYBBbase_D0025:g.14649G>T mutType missense
CYBBbase_D0025:g.14649G>C protEffect R130P
CYBBbase_D0025:g.14649G>C mutType missense
CYBBbase_D0025:g.14648C>T protEffect R130X
CYBBbase_D0025:g.14648C>T mutType nonsense
CYBBbase_D0025:g.14648delC protEffect R130X139
CYBBbase_D0025:g.14648delC mutType frameshift
CYBBbase_D0025:g.14648_14649insT protEffect R130X133
CYBBbase_D0025:g.14648_14649insT mutType frameshift
CYBBbase_D0025:g.14654_14666del protEffect N132X135
CYBBbase_D0025:g.14654_14666del mutType frameshift
CYBBbase_D0025:g.14658delA protEffect N133X139
CYBBbase_D0025:g.14658delA mutType frameshift
CYBBbase_D0025:g.14671T>A protEffect Y137X
CYBBbase_D0025:g.14671T>A mutType nonsense
CYBBbase_D0025:g.14673C>A protEffect S138X
CYBBbase_D0025:g.14673C>A mutType nonsense
CYBBbase_D0025:g.14672_14678delTCAGTAG protEffect 138_140delins21
CYBBbase_D0025:g.14672_14678delTCAGTAG mutType frameshift
CYBBbase_D0025:g.14682T>C protEffect L141P
CYBBbase_D0025:g.14682T>C mutType missense
CYBBbase_D0025:g.14684T>C protEffect S142P
CYBBbase_D0025:g.14684T>C mutType missense
CYBBbase_D0025:g.14702_14703delinsT protEffect Q148X
CYBBbase_D0025:g.14702_14703delinsT mutType nonsense
CYBBbase_D0025:g.14702C>T protEffect Q148X
CYBBbase_D0025:g.14702C>T mutType nonsense
CYBBbase_D0025:g.14706dupA protEffect N149X150
CYBBbase_D0025:g.14706dupA mutType frameshift
CYBBbase_D0025:g.14708G>T protEffect E150X
CYBBbase_D0025:g.14708G>T mutType nonsense
CYBBbase_D0025:g.14710_14711delAA protEffect E150X163
CYBBbase_D0025:g.14710_14711delAA mutType frameshift
CYBBbase_D0025:g.14716T>A protEffect Y152X
CYBBbase_D0025:g.14716T>A mutType nonsense
CYBBbase_D0025:g.14715_14716delAT protEffect Y152X163
CYBBbase_D0025:g.14715_14716delAT mutType frameshift
CYBBbase_D0025:g.14718T>G protEffect L153R
CYBBbase_D0025:g.14718T>G mutType missense
CYBBbase_D0025:g.14721delA protEffect N154X160
CYBBbase_D0025:g.14721delA mutType frameshift
CYBBbase_D0025:g.14726G>A protEffect A156T
CYBBbase_D0025:g.14726G>A mutType missense
CYBBbase_D0025:g.14729C>T protEffect R157X
CYBBbase_D0025:g.14729C>T mutType nonsense
CYBBbase_D0025:g.14732_14735delAAGA protEffect K158X159
CYBBbase_D0025:g.14732_14735delAAGA mutType frameshift
CYBBbase_D0025:g.14735_14741delAGAATAA protEffect 159_161delins11
CYBBbase_D0025:g.14735_14741delAGAATAA mutType frameshift
CYBBbase_D0025:g.14739dupT protEffect I160X164
CYBBbase_D0025:g.14739dupT mutType frameshift
CYBBbase_D0025:g.14743G>T protEffect K161N
CYBBbase_D0025:g.14743G>T mutType missense
CYBBbase_D0025:g.14742A>G protEffect K161R
CYBBbase_D0025:g.14742A>G mutType missense
CYBBbase_D0025:g.16917delC protEffect L173X188
CYBBbase_D0025:g.16917delC mutType frameshift
CYBBbase_D0025:g.16936G>A protEffect G179E
CYBBbase_D0025:g.16936G>A mutType missense
CYBBbase_D0025:g.16935G>A protEffect G179R
CYBBbase_D0025:g.16935G>A mutType missense
CYBBbase_D0025:g.16935G>T protEffect G179X
CYBBbase_D0025:g.16935G>T mutType nonsense
CYBBbase_D0025:g.16948_16959del protEffect 183_187delinsI
CYBBbase_D0025:g.16948_16959del mutType inframe
CYBBbase_D0025:g.16953T>C protEffect C185R
CYBBbase_D0025:g.16953T>C mutType missense
CYBBbase_D0025:g.16955C>A protEffect C185X
CYBBbase_D0025:g.16955C>A mutType nonsense
CYBBbase_D0025:g.16954delG protEffect C185X188
CYBBbase_D0025:g.16954delG mutType frameshift
CYBBbase_D0025:g.16959_16967delATATTAATT protEffect I187_I189del
CYBBbase_D0025:g.16959_16967delATATTAATT mutType inframe
CYBBbase_D0025:g.16960_16961dupCCTCAT protEffect 187_187delinsILI
CYBBbase_D0025:g.16960_16961dupCCTCAT mutType inframe
CYBBbase_D0025:g.16965_16968delATTA protEffect I189X212
CYBBbase_D0025:g.16965_16968delATTA mutType frameshift
CYBBbase_D0025:g.16978C>T protEffect S193F
CYBBbase_D0025:g.16978C>T mutType missense
CYBBbase_D0025:g.16977T>C protEffect S193P
CYBBbase_D0025:g.16977T>C mutType missense
CYBBbase_D0025:g.16981_16982dupTTCCTCCAC protEffect 194_194delinsTSST
CYBBbase_D0025:g.16981_16982dupTTCCTCCAC mutType inframe
CYBBbase_D0025:g.16982_16983insAAAACA protEffect 194_195insKT
CYBBbase_D0025:g.16982_16983insAAAACA mutType inframe
CYBBbase_D0025:g.16992delC protEffect R198X213
CYBBbase_D0025:g.16992delC mutType frameshift
CYBBbase_D0025:g.16995delA protEffect R199X213
CYBBbase_D0025:g.16995delA mutType frameshift
CYBBbase_D0025:g.16996_16997insGTCTTACT protEffect R199X216
CYBBbase_D0025:g.16996_16997insGTCTTACT mutType frameshift
CYBBbase_D0025:g.17003C>G protEffect Y201X
CYBBbase_D0025:g.17003C>G mutType nonsense
CYBBbase_D0025:g.17003delC protEffect Y201X213
CYBBbase_D0025:g.17003delC mutType frameshift
CYBBbase_D0025:g.17006_17008delinsGG protEffect F202X213
CYBBbase_D0025:g.17006_17008delinsGG mutType frameshift
CYBBbase_D0025:g.17007G>T protEffect E203X
CYBBbase_D0025:g.17007G>T mutType nonsense
CYBBbase_D0025:g.17013T>A protEffect F205I
CYBBbase_D0025:g.17013T>A mutType missense
CYBBbase_D0025:g.17014_17032del protEffect F205X207
CYBBbase_D0025:g.17014_17032del mutType frameshift
CYBBbase_D0025:g.17018G>A protEffect W206X
CYBBbase_D0025:g.17018G>A mutType nonsense
CYBBbase_D0025:g.17021C>A protEffect Y207X
CYBBbase_D0025:g.17021C>A mutType nonsense
CYBBbase_D0025:g.17027T>A protEffect H209Q
CYBBbase_D0025:g.17027T>A mutType missense
CYBBbase_D0025:g.17026A>G protEffect H209R
CYBBbase_D0025:g.17026A>G mutType missense
CYBBbase_D0025:g.17025C>T protEffect H209Y
CYBBbase_D0025:g.17025C>T mutType missense
CYBBbase_D0025:g.17025_17026delCA protEffect H209X224
CYBBbase_D0025:g.17025_17026delCA mutType frameshift
CYBBbase_D0025:g.17032T>C protEffect L211P
CYBBbase_D0025:g.17032T>C mutType missense
CYBBbase_D0025:g.17032T>G protEffect L211R
CYBBbase_D0025:g.17032T>G mutType missense
CYBBbase_D0025:g.17031_17032dupCATC protEffect L211X226
CYBBbase_D0025:g.17031_17032dupCATC mutType frameshift
CYBBbase_D0025:g.17036delT protEffect F212X213
CYBBbase_D0025:g.17036delT mutType frameshift
CYBBbase_D0025:g.17046_17048delTTC protEffect F216del
CYBBbase_D0025:g.17046_17048delTTC mutType inframe
CYBBbase_D0025:g.17065A>T protEffect H222L
CYBBbase_D0025:g.17065A>T mutType missense
CYBBbase_D0025:g.17064C>A protEffect H222N
CYBBbase_D0025:g.17064C>A mutType missense
CYBBbase_D0025:g.17065A>G protEffect H222R
CYBBbase_D0025:g.17065A>G mutType missense
CYBBbase_D0025:g.17064C>T protEffect H222Y
CYBBbase_D0025:g.17064C>T mutType missense
CYBBbase_D0025:g.17067_17068delinsTT protEffect G223L
CYBBbase_D0025:g.17067_17068delinsTT mutType missense
CYBBbase_D0025:g.17067G>T protEffect G223X
CYBBbase_D0025:g.17067G>T mutType nonsense
CYBBbase_D0025:g.17071C>G protEffect A224G
CYBBbase_D0025:g.17071C>G mutType missense
CYBBbase_D0025:g.17074A>T protEffect E225V
CYBBbase_D0025:g.17074A>T mutType missense
CYBBbase_D0025:g.19889C>T protEffect R226X
CYBBbase_D0025:g.19889C>T mutType nonsense
CYBBbase_D0025:g.19904C>T protEffect Q231X
CYBBbase_D0025:g.19904C>T mutType nonsense
CYBBbase_D0025:g.19913G>T protEffect E234X
CYBBbase_D0025:g.19913G>T mutType nonsense
CYBBbase_D0025:g.19916_19917delAG protEffect S235X239
CYBBbase_D0025:g.19916_19917delAG mutType frameshift
CYBBbase_D0025:g.19926delT protEffect V238X241
CYBBbase_D0025:g.19926delT mutType frameshift
CYBBbase_D0025:g.19929_19933delATAAT protEffect H239X243
CYBBbase_D0025:g.19929_19933delATAAT mutType frameshift
CYBBbase_D0025:g.19943T>G protEffect C244G
CYBBbase_D0025:g.19943T>G mutType missense
CYBBbase_D0025:g.19943T>C protEffect C244R
CYBBbase_D0025:g.19943T>C mutType missense
CYBBbase_D0025:g.19944G>C protEffect C244S
CYBBbase_D0025:g.19944G>C mutType missense
CYBBbase_D0025:g.19943T>A protEffect C244S
CYBBbase_D0025:g.19943T>A mutType missense
CYBBbase_D0025:g.19944G>A protEffect C244Y
CYBBbase_D0025:g.19944G>A mutType missense
CYBBbase_D0025:g.19945T>A protEffect C244X
CYBBbase_D0025:g.19945T>A mutType nonsense
CYBBbase_D0025:g.19946G>T protEffect E245X
CYBBbase_D0025:g.19946G>T mutType nonsense
CYBBbase_D0025:g.19949C>T protEffect Q246X
CYBBbase_D0025:g.19949C>T mutType nonsense
CYBBbase_D0025:g.19951_19952delinsT protEffect Q246X254
CYBBbase_D0025:g.19951_19952delinsT mutType frameshift
CYBBbase_D0025:g.19955dupA protEffect I248X283
CYBBbase_D0025:g.19955dupA mutType frameshift
CYBBbase_D0025:g.19965G>A protEffect W251X
CYBBbase_D0025:g.19965G>A mutType nonsense
CYBBbase_D0025:g.19967G>T protEffect G252X
CYBBbase_D0025:g.19967G>T mutType nonsense
CYBBbase_D0025:g.19968delG protEffect G252X254
CYBBbase_D0025:g.19968delG mutType frameshift
CYBBbase_D0025:g.19968_19969delGA protEffect 252_252delins31
CYBBbase_D0025:g.19968_19969delGA mutType frameshift
CYBBbase_D0025:g.19973dupA protEffect I254X283
CYBBbase_D0025:g.19973dupA mutType frameshift
CYBBbase_D0025:g.19982T>C protEffect C257R
CYBBbase_D0025:g.19982T>C mutType missense
CYBBbase_D0025:g.19984C>A protEffect C257X
CYBBbase_D0025:g.19984C>A mutType nonsense
CYBBbase_D0025:g.19984delC protEffect C257X268
CYBBbase_D0025:g.19984delC mutType frameshift
CYBBbase_D0025:g.19992C>G protEffect P260R
CYBBbase_D0025:g.19992C>G mutType missense
CYBBbase_D0025:g.19994C>T protEffect Q261X
CYBBbase_D0025:g.19994C>T mutType nonsense
CYBBbase_D0025:g.19994_19995delCA protEffect Q261X282
CYBBbase_D0025:g.19994_19995delCA mutType frameshift
CYBBbase_D0025:g.19998_19999ins protEffect 262_262delinsFAGNPPMV
CYBBbase_D0025:g.19998_19999ins mutType inframe
CYBBbase_D0025:g.20001delC protEffect A263X268
CYBBbase_D0025:g.20001delC mutType frameshift
CYBBbase_D0025:g.20010delC protEffect P266X268
CYBBbase_D0025:g.20010delC mutType frameshift
CYBBbase_D0025:g.20012_20013insAA protEffect P267X269
CYBBbase_D0025:g.20012_20013insAA mutType frameshift
CYBBbase_D0025:g.22194G>A protEffect W270X
CYBBbase_D0025:g.22194G>A mutType nonsense
CYBBbase_D0025:g.22195A>T protEffect K271X
CYBBbase_D0025:g.22195A>T mutType nonsense
CYBBbase_D0025:g.22200G>A protEffect W272X
CYBBbase_D0025:g.22200G>A mutType nonsense
CYBBbase_D0025:g.22215_22237del protEffect M277X339
CYBBbase_D0025:g.22215_22237del mutType frameshift
CYBBbase_D0025:g.22224T>A protEffect Y280X
CYBBbase_D0025:g.22224T>A mutType nonsense
CYBBbase_D0025:g.22228_22258del protEffect 282_292delins21
CYBBbase_D0025:g.22228_22258del mutType frameshift
CYBBbase_D0025:g.22229dupG protEffect C282X283
CYBBbase_D0025:g.22229dupG mutType frameshift
CYBBbase_D0025:g.22251G>A protEffect W289X
CYBBbase_D0025:g.22251G>A mutType nonsense
CYBBbase_D0025:g.22252C>T protEffect R290X
CYBBbase_D0025:g.22252C>T mutType nonsense
CYBBbase_D0025:g.22254_22263del protEffect R290X309
CYBBbase_D0025:g.22254_22263del mutType frameshift
CYBBbase_D0025:g.22271_22272dupGTGGT protEffect V296X314
CYBBbase_D0025:g.22271_22272dupGTGGT mutType frameshift
CYBBbase_D0025:g.22278delC protEffect T298X312
CYBBbase_D0025:g.22278delC mutType frameshift
CYBBbase_D0025:g.22281G>A protEffect K299K
CYBBbase_D0025:g.22281G>A mutType missense
CYBBbase_D0025:g.22281G>T protEffect K299N
CYBBbase_D0025:g.22281G>T mutType missense
CYBBbase_D0025:g.24823C>A protEffect H303N
CYBBbase_D0025:g.24823C>A mutType missense
CYBBbase_D0025:g.24827C>G protEffect P304R
CYBBbase_D0025:g.24827C>G mutType missense
CYBBbase_D0025:g.24820A>C protEffect T302P
CYBBbase_D0025:g.24820A>C mutType missense
CYBBbase_D0025:g.24822_24825delTCAC protEffect T302X311
CYBBbase_D0025:g.24822_24825delTCAC mutType frameshift
CYBBbase_D0025:g.24819dupC protEffect T302X347
CYBBbase_D0025:g.24819dupC mutType frameshift
CYBBbase_D0025:g.24825C>A protEffect H303Q
CYBBbase_D0025:g.24825C>A mutType missense
CYBBbase_D0025:g.24823C>T protEffect H303Y
CYBBbase_D0025:g.24823C>T mutType missense
CYBBbase_D0025:g.24827C>T protEffect P304L
CYBBbase_D0025:g.24827C>T mutType missense
CYBBbase_D0025:g.24831delC protEffect F305X312
CYBBbase_D0025:g.24831delC mutType frameshift
CYBBbase_D0025:g.24832A>T protEffect K306X
CYBBbase_D0025:g.24832A>T mutType nonsense
CYBBbase_D0025:g.24835A>C protEffect T307P
CYBBbase_D0025:g.24835A>C mutType missense
CYBBbase_D0025:g.24835delA protEffect T307X312
CYBBbase_D0025:g.24835delA mutType frameshift
CYBBbase_D0025:g.24838_24839insTCCTTTCA protEffect I308X315
CYBBbase_D0025:g.24838_24839insTCCTTTCA mutType frameshift
CYBBbase_D0025:g.24851_24853delTGA protEffect 312_313delinsK
CYBBbase_D0025:g.24851_24853delTGA mutType inframe
CYBBbase_D0025:g.24838_24839insGTTTC protEffect I308X314
CYBBbase_D0025:g.24838_24839insGTTTC mutType frameshift
CYBBbase_D0025:g.24841G>A protEffect E309K
CYBBbase_D0025:g.24841G>A mutType missense
CYBBbase_D0025:g.24841G>T protEffect E309X
CYBBbase_D0025:g.24841G>T mutType nonsense
CYBBbase_D0025:g.24845T>C protEffect L310P
CYBBbase_D0025:g.24845T>C mutType missense
CYBBbase_D0025:g.24847delC protEffect Q311X312
CYBBbase_D0025:g.24847delC mutType frameshift
CYBBbase_D0025:g.24851T>A protEffect M312K
CYBBbase_D0025:g.24851T>A mutType missense
CYBBbase_D0025:g.24851T>G protEffect M312R
CYBBbase_D0025:g.24851T>G mutType missense
CYBBbase_D0025:g.24859_24861delAAG protEffect K315del
CYBBbase_D0025:g.24859_24861delAAG mutType inframe
CYBBbase_D0025:g.24864delG protEffect G316X342
CYBBbase_D0025:g.24864delG mutType frameshift
CYBBbase_D0025:g.24874G>T protEffect E320X
CYBBbase_D0025:g.24874G>T mutType nonsense
CYBBbase_D0025:g.24876delA protEffect E320X342
CYBBbase_D0025:g.24876delA mutType frameshift
CYBBbase_D0025:g.24874delG protEffect E320X342
CYBBbase_D0025:g.24874delG mutType frameshift
CYBBbase_D0025:g.24878T>G protEffect V321G
CYBBbase_D0025:g.24878T>G mutType missense
CYBBbase_D0025:g.24881G>A protEffect G322E
CYBBbase_D0025:g.24881G>A mutType missense
CYBBbase_D0025:g.24881delG protEffect 322_322delins21
CYBBbase_D0025:g.24881delG mutType frameshift
CYBBbase_D0025:g.24883C>T protEffect Q323X
CYBBbase_D0025:g.24883C>T mutType nonsense
CYBBbase_D0025:g.24888C>A protEffect Y324X
CYBBbase_D0025:g.24888C>A mutType nonsense
CYBBbase_D0025:g.24889A>T protEffect I325F
CYBBbase_D0025:g.24889A>T mutType missense
CYBBbase_D0025:g.24895delG protEffect V327X342
CYBBbase_D0025:g.24895delG mutType frameshift
CYBBbase_D0025:g.24897_24901delCAAGT protEffect V327X345
CYBBbase_D0025:g.24897_24901delCAAGT mutType frameshift
CYBBbase_D0025:g.24901T>C protEffect C329R
CYBBbase_D0025:g.24901T>C mutType missense
CYBBbase_D0025:g.24908_24913delinsGGGGG protEffect K331X342
CYBBbase_D0025:g.24908_24913delinsGGGGG mutType frameshift
CYBBbase_D0025:g.24910delG protEffect 332_332delins11
CYBBbase_D0025:g.24910delG mutType frameshift
CYBBbase_D0025:g.24913T>C protEffect S333P
CYBBbase_D0025:g.24913T>C mutType missense
CYBBbase_D0025:g.24922G>T protEffect E336X
CYBBbase_D0025:g.24922G>T mutType nonsense
CYBBbase_D0025:g.24926G>A protEffect W337X
CYBBbase_D0025:g.24926G>A mutType nonsense
CYBBbase_D0025:g.24927G>A protEffect W337X
CYBBbase_D0025:g.24927G>A mutType nonsense
CYBBbase_D0025:g.24928C>A protEffect H338N
CYBBbase_D0025:g.24928C>A mutType missense
CYBBbase_D0025:g.24930C>A protEffect H338Q
CYBBbase_D0025:g.24930C>A mutType missense
CYBBbase_D0025:g.24929A>G protEffect H338R
CYBBbase_D0025:g.24929A>G mutType missense
CYBBbase_D0025:g.24928C>T protEffect H338Y
CYBBbase_D0025:g.24928C>T mutType missense
CYBBbase_D0025:g.24932C>A protEffect P339H
CYBBbase_D0025:g.24932C>A mutType missense
CYBBbase_D0025:g.24932C>T protEffect P339L
CYBBbase_D0025:g.24932C>T mutType missense
CYBBbase_D0025:g.24932delC protEffect P339X342
CYBBbase_D0025:g.24932delC mutType frameshift
CYBBbase_D0025:g.24932dupC protEffect P339X347
CYBBbase_D0025:g.24932dupC mutType frameshift
CYBBbase_D0025:g.24938C>T protEffect T341I
CYBBbase_D0025:g.24938C>T mutType missense
CYBBbase_D0025:g.24938C>A protEffect T341K
CYBBbase_D0025:g.24938C>A mutType missense
CYBBbase_D0025:g.24941T>A protEffect L342Q
CYBBbase_D0025:g.24941T>A mutType missense
CYBBbase_D0025:g.24943A>C protEffect T343P
CYBBbase_D0025:g.24943A>C mutType missense
CYBBbase_D0025:g.24947C>T protEffect S344F
CYBBbase_D0025:g.24947C>T mutType missense
CYBBbase_D0025:g.24946T>C protEffect S344P
CYBBbase_D0025:g.24946T>C mutType missense
CYBBbase_D0025:g.24948delC protEffect S344X385
CYBBbase_D0025:g.24948delC mutType frameshift
CYBBbase_D0025:g.24946_24947insCT protEffect S344X386
CYBBbase_D0025:g.24946_24947insCT mutType frameshift
CYBBbase_D0025:g.24954delT protEffect P346X385
CYBBbase_D0025:g.24954delT mutType frameshift
CYBBbase_D0025:g.24977A>C protEffect H354P
CYBBbase_D0025:g.24977A>C mutType missense
CYBBbase_D0025:g.24977A>G protEffect H354R
CYBBbase_D0025:g.24977A>G mutType missense
CYBBbase_D0025:g.24978_24987del protEffect H354X382
CYBBbase_D0025:g.24978_24987del mutType frameshift
CYBBbase_D0025:g.24979_24986delATCCGCAT protEffect I355X369
CYBBbase_D0025:g.24979_24986delATCCGCAT mutType frameshift
CYBBbase_D0025:g.24979delA protEffect 355_355delins31
CYBBbase_D0025:g.24979delA mutType frameshift
CYBBbase_D0025:g.24983G>C protEffect R356P
CYBBbase_D0025:g.24983G>C mutType missense
CYBBbase_D0025:g.24992G>C protEffect G359A
CYBBbase_D0025:g.24992G>C mutType missense
CYBBbase_D0025:g.24991G>A protEffect G359R
CYBBbase_D0025:g.24991G>A mutType missense
CYBBbase_D0025:g.24992G>T protEffect G359V
CYBBbase_D0025:g.24992G>T mutType missense
CYBBbase_D0025:g.24997T>C protEffect W361R
CYBBbase_D0025:g.24997T>C mutType missense
CYBBbase_D0025:g.24999G>A protEffect W361X
CYBBbase_D0025:g.24999G>A mutType nonsense
CYBBbase_D0025:g.24998G>A protEffect W361X
CYBBbase_D0025:g.24998G>A mutType nonsense
CYBBbase_D0025:g.25001C>T protEffect T362I
CYBBbase_D0025:g.25001C>T mutType missense
CYBBbase_D0025:g.25001C>G protEffect T362R
CYBBbase_D0025:g.25001C>G mutType missense
CYBBbase_D0025:g.25010T>C protEffect L365P
CYBBbase_D0025:g.25010T>C mutType missense
CYBBbase_D0025:g.25011delG protEffect 365_365delins21
CYBBbase_D0025:g.25011delG mutType frameshift
CYBBbase_D0025:g.25010dupT protEffect L365X372
CYBBbase_D0025:g.25010dupT mutType frameshift
CYBBbase_D0025:g.25021T>C protEffect C369R
CYBBbase_D0025:g.25021T>C mutType missense
CYBBbase_D0025:g.25036C>T protEffect Q374X
CYBBbase_D0025:g.25036C>T mutType nonsense
CYBBbase_D0025:g.25039G>T protEffect E375X
CYBBbase_D0025:g.25039G>T mutType nonsense
CYBBbase_D0025:g.25045C>T protEffect Q377X
CYBBbase_D0025:g.25045C>T mutType nonsense
CYBBbase_D0025:g.25052dupC protEffect A379X384
CYBBbase_D0025:g.25052dupC mutType frameshift
CYBBbase_D0025:g.25055G>A protEffect W380X
CYBBbase_D0025:g.25055G>A mutType nonsense
CYBBbase_D0025:g.25056G>A protEffect W380X
CYBBbase_D0025:g.25056G>A mutType nonsense
CYBBbase_D0025:g.25060_25061insAGGT protEffect L382X385
CYBBbase_D0025:g.25060_25061insAGGT mutType frameshift
CYBBbase_D0025:g.25063_25066delCCTA protEffect P383X384
CYBBbase_D0025:g.25063_25066delCCTA mutType frameshift
CYBBbase_D0025:g.25945T>G protEffect I385R
CYBBbase_D0025:g.25945T>G mutType missense
CYBBbase_D0025:g.25954delA protEffect D388X404
CYBBbase_D0025:g.25954delA mutType frameshift
CYBBbase_D0025:g.25957G>C protEffect G389A
CYBBbase_D0025:g.25957G>C mutType missense
CYBBbase_D0025:g.25957G>A protEffect G389E
CYBBbase_D0025:g.25957G>A mutType missense
CYBBbase_D0025:g.25956G>A protEffect G389R
CYBBbase_D0025:g.25956G>A mutType missense
CYBBbase_D0025:g.25957G>T protEffect G389V
CYBBbase_D0025:g.25957G>T mutType missense
CYBBbase_D0025:g.25958delG protEffect G389X404
CYBBbase_D0025:g.25958delG mutType frameshift
CYBBbase_D0025:g.25957_25961delinsTGTTCAGC protEffect 389_390delinsVFS
CYBBbase_D0025:g.25957_25961delinsTGTTCAGC mutType inframe
CYBBbase_D0025:g.25960C>T protEffect P390L
CYBBbase_D0025:g.25960C>T mutType missense
CYBBbase_D0025:g.25968delA protEffect T393X404
CYBBbase_D0025:g.25968delA mutType frameshift
CYBBbase_D0025:g.25971_25973delins protEffect 394_394delinsMXXTH
CYBBbase_D0025:g.25971_25973delins mutType inframe
CYBBbase_D0025:g.25977_25986del protEffect E396X401
CYBBbase_D0025:g.25977_25986del mutType frameshift
CYBBbase_D0025:g.25981_25982delAT protEffect D397X401
CYBBbase_D0025:g.25981_25982delAT mutType frameshift
CYBBbase_D0025:g.26014G>A protEffect G408E
CYBBbase_D0025:g.26014G>A mutType missense
CYBBbase_D0025:g.26013G>A protEffect G408R
CYBBbase_D0025:g.26013G>A mutType missense
CYBBbase_D0025:g.26013G>C protEffect G408R
CYBBbase_D0025:g.26013G>C mutType missense
CYBBbase_D0025:g.26026G>A protEffect G412E
CYBBbase_D0025:g.26026G>A mutType missense
CYBBbase_D0025:g.26025G>A protEffect G412R
CYBBbase_D0025:g.26025G>A mutType missense
CYBBbase_D0025:g.26025G>C protEffect G412R
CYBBbase_D0025:g.26025G>C mutType missense
CYBBbase_D0025:g.26024_26025ins protEffect 411_412insGVTPFASI
CYBBbase_D0025:g.26024_26025ins mutType inframe
CYBBbase_D0025:g.26028dupG protEffect V413X430
CYBBbase_D0025:g.26028dupG mutType frameshift
CYBBbase_D0025:g.26035C>A protEffect P415H
CYBBbase_D0025:g.26035C>A mutType missense
CYBBbase_D0025:g.26035C>T protEffect P415L
CYBBbase_D0025:g.26035C>T mutType missense
CYBBbase_D0025:g.26035C>G protEffect P415R
CYBBbase_D0025:g.26035C>G mutType missense
CYBBbase_D0025:g.26044C>A protEffect S418Y
CYBBbase_D0025:g.26044C>A mutType missense
CYBBbase_D0025:g.26046dupA protEffect I419X430
CYBBbase_D0025:g.26046dupA mutType frameshift
CYBBbase_D0025:g.26050T>C protEffect L420P
CYBBbase_D0025:g.26050T>C mutType missense
CYBBbase_D0025:g.26055T>C protEffect S422P
CYBBbase_D0025:g.26055T>C mutType missense
CYBBbase_D0025:g.26056C>A protEffect S422X
CYBBbase_D0025:g.26056C>A mutType nonsense
CYBBbase_D0025:g.26056_26064delCAGTCTGGT protEffect 422_425delinsY
CYBBbase_D0025:g.26056_26064delCAGTCTGGT mutType inframe
CYBBbase_D0025:g.26063G>A protEffect W424X
CYBBbase_D0025:g.26063G>A mutType nonsense
CYBBbase_D0025:g.26062G>A protEffect W424X
CYBBbase_D0025:g.26062G>A mutType nonsense
CYBBbase_D0025:g.26063delG protEffect 424_424delins11
CYBBbase_D0025:g.26063delG mutType frameshift
CYBBbase_D0025:g.26066C>G protEffect Y425X
CYBBbase_D0025:g.26066C>G mutType nonsense
CYBBbase_D0025:g.26072T>G protEffect Y427X
CYBBbase_D0025:g.26072T>G mutType nonsense
CYBBbase_D0025:g.26075C>A protEffect C428X
CYBBbase_D0025:g.26075C>A mutType nonsense
CYBBbase_D0025:g.26078_26085delinsAAGCCA protEffect N429X451
CYBBbase_D0025:g.26078_26085delinsAAGCCA mutType frameshift
CYBBbase_D0025:g.26085delA protEffect T432X434
CYBBbase_D0025:g.26085delA mutType frameshift
CYBBbase_D0025:g.26100A>T protEffect K437X
CYBBbase_D0025:g.26100A>T mutType nonsense
CYBBbase_D0025:g.26104delA protEffect K438X501
CYBBbase_D0025:g.26104delA mutType frameshift
CYBBbase_D0025:g.26104_26105delinsT protEffect K438X501
CYBBbase_D0025:g.26104_26105delinsT mutType frameshift
CYBBbase_D0025:g.26105delG protEffect K438X501
CYBBbase_D0025:g.26105delG mutType frameshift
CYBBbase_D0025:g.27324delA protEffect I439X501
CYBBbase_D0025:g.27324delA mutType frameshift
CYBBbase_D0025:g.27329C>A protEffect Y440X
CYBBbase_D0025:g.27329C>A mutType nonsense
CYBBbase_D0025:g.27329C>G protEffect Y440X
CYBBbase_D0025:g.27329C>G mutType nonsense
CYBBbase_D0025:g.27335C>G protEffect Y442X
CYBBbase_D0025:g.27335C>G mutType nonsense
CYBBbase_D0025:g.27338G>A protEffect W443X
CYBBbase_D0025:g.27338G>A mutType nonsense
CYBBbase_D0025:g.27336delT protEffect W443X501
CYBBbase_D0025:g.27336delT mutType frameshift
CYBBbase_D0025:g.27342T>C protEffect C445R
CYBBbase_D0025:g.27342T>C mutType missense
CYBBbase_D0025:g.27344C>A protEffect C445X
CYBBbase_D0025:g.27344C>A mutType nonsense
CYBBbase_D0025:g.27349delA protEffect D447X501
CYBBbase_D0025:g.27349delA mutType frameshift
CYBBbase_D0025:g.27357_27361delGCCTT protEffect 450_451delinsX
CYBBbase_D0025:g.27357_27361delGCCTT mutType nonsense
CYBBbase_D0025:g.27359delC protEffect A450X501
CYBBbase_D0025:g.27359delC mutType frameshift
CYBBbase_D0025:g.27363G>T protEffect E452X
CYBBbase_D0025:g.27363G>T mutType nonsense
CYBBbase_D0025:g.27366T>C protEffect W453R
CYBBbase_D0025:g.27366T>C mutType missense
CYBBbase_D0025:g.27366T>A protEffect W453R
CYBBbase_D0025:g.27366T>A mutType missense
CYBBbase_D0025:g.27367G>A protEffect W453X
CYBBbase_D0025:g.27367G>A mutType nonsense
CYBBbase_D0025:g.27368G>A protEffect W453X
CYBBbase_D0025:g.27368G>A mutType nonsense
CYBBbase_D0025:g.27366_27367delTG protEffect W453X484
CYBBbase_D0025:g.27366_27367delTG mutType frameshift
CYBBbase_D0025:g.27372_27384del protEffect A455X497
CYBBbase_D0025:g.27372_27384del mutType frameshift
CYBBbase_D0025:g.27384C>T protEffect Q459X
CYBBbase_D0025:g.27384C>T mutType nonsense
CYBBbase_D0025:g.27391delT protEffect 461_461delins41
CYBBbase_D0025:g.27391delT mutType frameshift
CYBBbase_D0025:g.27393G>T protEffect E462X
CYBBbase_D0025:g.27393G>T mutType nonsense
CYBBbase_D0025:g.27405C>T protEffect Q466X
CYBBbase_D0025:g.27405C>T mutType nonsense
CYBBbase_D0025:g.27408G>T protEffect E467X
CYBBbase_D0025:g.27408G>T mutType nonsense
CYBBbase_D0025:g.27424delG protEffect G472X501
CYBBbase_D0025:g.27424delG mutType frameshift
CYBBbase_D0025:g.27430T>G protEffect L474R
CYBBbase_D0025:g.27430T>G mutType missense
CYBBbase_D0025:g.27437C>A protEffect Y476X
CYBBbase_D0025:g.27437C>A mutType nonsense
CYBBbase_D0025:g.27446C>A protEffect Y479X
CYBBbase_D0025:g.27446C>A mutType nonsense
CYBBbase_D0025:g.27450A>C protEffect T481P
CYBBbase_D0025:g.27450A>C mutType missense
CYBBbase_D0025:g.27458G>A protEffect W483X
CYBBbase_D0025:g.27458G>A mutType nonsense
CYBBbase_D0025:g.27457G>A protEffect W483X
CYBBbase_D0025:g.27457G>A mutType nonsense
CYBBbase_D0025:g.27456_27468del protEffect W483X497
CYBBbase_D0025:g.27456_27468del mutType frameshift
CYBBbase_D0025:g.27464delG protEffect E485X501
CYBBbase_D0025:g.27464delG mutType frameshift
CYBBbase_D0025:g.27465dupT protEffect 486_486delins11
CYBBbase_D0025:g.27465dupT mutType frameshift
CYBBbase_D0025:g.30506delC protEffect A488X501
CYBBbase_D0025:g.30506delC mutType frameshift
CYBBbase_D0025:g.30526A>C protEffect H495P
CYBBbase_D0025:g.30526A>C mutType missense
CYBBbase_D0025:g.30530_30532delTGA protEffect 496_497delinsE
CYBBbase_D0025:g.30530_30532delTGA mutType inframe
CYBBbase_D0025:g.30539delA protEffect K499X501
CYBBbase_D0025:g.30539delA mutType frameshift
CYBBbase_D0025:g.30542T>G protEffect D500E
CYBBbase_D0025:g.30542T>G mutType missense
CYBBbase_D0025:g.30541A>G protEffect D500G
CYBBbase_D0025:g.30541A>G mutType missense
CYBBbase_D0025:g.30540G>C protEffect D500H
CYBBbase_D0025:g.30540G>C mutType missense
CYBBbase_D0025:g.30540G>A protEffect D500N
CYBBbase_D0025:g.30540G>A mutType missense
CYBBbase_D0025:g.30540G>T protEffect D500Y
CYBBbase_D0025:g.30540G>T mutType missense
CYBBbase_D0025:g.30551delA protEffect T503X505
CYBBbase_D0025:g.30551delA mutType frameshift
CYBBbase_D0025:g.30556T>C protEffect L505P
CYBBbase_D0025:g.30556T>C mutType missense
CYBBbase_D0025:g.30556T>G protEffect L505R
CYBBbase_D0025:g.30556T>G mutType missense
CYBBbase_D0025:g.30557_30567del protEffect L505X514
CYBBbase_D0025:g.30557_30567del mutType frameshift
CYBBbase_D0025:g.30561C>T protEffect Q507X
CYBBbase_D0025:g.30561C>T mutType nonsense
CYBBbase_D0025:g.30563_30567delinsCATCTGGG protEffect 507_509delinsHIWA
CYBBbase_D0025:g.30563_30567delinsCATCTGGG mutType inframe
CYBBbase_D0025:g.30564_30565delAA protEffect K508X517
CYBBbase_D0025:g.30564_30565delAA mutType frameshift
CYBBbase_D0025:g.30566_30569delGACT protEffect K508X531
CYBBbase_D0025:g.30566_30569delGACT mutType frameshift
CYBBbase_D0025:g.30565delA protEffect K508X532
CYBBbase_D0025:g.30565delA mutType frameshift
CYBBbase_D0025:g.30570_30571delTT protEffect L510X517
CYBBbase_D0025:g.30570_30571delTT mutType frameshift
CYBBbase_D0025:g.30575T>A protEffect Y511X
CYBBbase_D0025:g.30575T>A mutType nonsense
CYBBbase_D0025:g.30574_30580delinsTTCA protEffect 511_513delinsFQ
CYBBbase_D0025:g.30574_30580delinsTTCA mutType inframe
CYBBbase_D0025:g.30590G>T protEffect W516C
CYBBbase_D0025:g.30590G>T mutType missense
CYBBbase_D0025:g.30588T>C protEffect W516R
CYBBbase_D0025:g.30588T>C mutType missense
CYBBbase_D0025:g.30588T>A protEffect W516R
CYBBbase_D0025:g.30588T>A mutType missense
CYBBbase_D0025:g.30590G>A protEffect W516X
CYBBbase_D0025:g.30590G>A mutType nonsense
CYBBbase_D0025:g.30589G>A protEffect W516X
CYBBbase_D0025:g.30589G>A mutType nonsense
CYBBbase_D0025:g.30591delG protEffect D517X532
CYBBbase_D0025:g.30591delG mutType frameshift
CYBBbase_D0025:g.30597G>T protEffect E519X
CYBBbase_D0025:g.30597G>T mutType nonsense
CYBBbase_D0025:g.30603A>T protEffect K521X
CYBBbase_D0025:g.30603A>T mutType nonsense
CYBBbase_D0025:g.30607delC protEffect 522_522delins11
CYBBbase_D0025:g.30607delC mutType frameshift
CYBBbase_D0025:g.30613C>T protEffect A524V
CYBBbase_D0025:g.30613C>T mutType missense
CYBBbase_D0025:g.30620delA protEffect Q526X532
CYBBbase_D0025:g.30620delA mutType frameshift
CYBBbase_D0025:g.31739_31741delGAG protEffect 533_534delinsV
CYBBbase_D0025:g.31739_31741delGAG mutType inframe
CYBBbase_D0025:g.31742T>A protEffect V534D
CYBBbase_D0025:g.31742T>A mutType missense
CYBBbase_D0025:g.31741_31755del protEffect V534_G538del
CYBBbase_D0025:g.31741_31755del mutType inframe
CYBBbase_D0025:g.31744_31750delTTCCTCT protEffect F535X544
CYBBbase_D0025:g.31744_31750delTTCCTCT mutType frameshift
CYBBbase_D0025:g.31748dupT protEffect L536X540
CYBBbase_D0025:g.31748dupT mutType frameshift
CYBBbase_D0025:g.31750T>C protEffect C537R
CYBBbase_D0025:g.31750T>C mutType missense
CYBBbase_D0025:g.31752_31753delTG protEffect C537X539
CYBBbase_D0025:g.31752_31753delTG mutType frameshift
CYBBbase_D0025:g.31759delG protEffect E540X546
CYBBbase_D0025:g.31759delG mutType frameshift
CYBBbase_D0025:g.31766T>C protEffect L542S
CYBBbase_D0025:g.31766T>C mutType missense
CYBBbase_D0025:g.31766_31767dupCCTT protEffect L542X545
CYBBbase_D0025:g.31766_31767dupCCTT mutType frameshift
CYBBbase_D0025:g.31778T>C protEffect L546P
CYBBbase_D0025:g.31778T>C mutType missense
CYBBbase_D0025:g.31778T>G protEffect L546R
CYBBbase_D0025:g.31778T>G mutType missense
CYBBbase_D0025:g.31783A>T protEffect K548X
CYBBbase_D0025:g.31783A>T mutType nonsense
CYBBbase_D0025:g.31786C>T protEffect Q549X
CYBBbase_D0025:g.31786C>T mutType nonsense
CYBBbase_D0025:g.31799delA protEffect N553X576
CYBBbase_D0025:g.31799delA mutType frameshift
CYBBbase_D0025:g.31802_31803delCT protEffect S554X
CYBBbase_D0025:g.31802_31803delCT mutType nonsense
CYBBbase_D0025:g.31802_31803ins protEffect 554_554delins11
CYBBbase_D0025:g.31802_31803ins mutType frameshift
CYBBbase_D0025:g.31803dupT protEffect E555X
CYBBbase_D0025:g.31803dupT mutType nonsense
CYBBbase_D0025:g.31803_31804insGT protEffect E555X577
CYBBbase_D0025:g.31803_31804insGT mutType frameshift
CYBBbase_D0025:g.31819G>T protEffect G560X
CYBBbase_D0025:g.31819G>T mutType nonsense
CYBBbase_D0025:g.31820delG protEffect G560X576
CYBBbase_D0025:g.31820delG mutType frameshift
CYBBbase_D0025:g.31823_31853del protEffect V561X566
CYBBbase_D0025:g.31823_31853del mutType frameshift
CYBBbase_D0025:g.31835dupT protEffect F565X593
CYBBbase_D0025:g.31835dupT mutType frameshift
CYBBbase_D0025:g.31843G>A protEffect E568K
CYBBbase_D0025:g.31843G>A mutType missense
CYBBbase_D0025:g.946A>C mutType upstream
CYBBbase_D0025:g.948T>C mutType upstream
CYBBbase_D0025:g.950C>T mutType upstream
CYBBbase_D0025:g.951C>T mutType upstream
CYBBbase_D0025:g.18731A>G protEffect E225X226
CYBBbase_D0025:g.18731A>G mutType cryptic
CYBBbase_D0025:g.30627_30637del protEffect 524_529delins11
CYBBbase_D0025:g.30627_30637del mutType deletion
DKC1base_D0028:g.3768_3769delinsTC protEffect L56S
DKC1base_D0028:g.3768_3769delinsTC mutType missense
DKC1base_D0028:g.3715T>C protEffect I38T
DKC1base_D0028:g.3715T>C mutType missense
DKC1base_D0028:g.3748C>T protEffect T49M
DKC1base_D0028:g.3748C>T mutType missense
DKC1base_D0028:g.4192C>T protEffect L72F
DKC1base_D0028:g.4192C>T mutType missense
DKC1base_D0028:g.4556A>G protEffect S121G
DKC1base_D0028:g.4556A>G mutType missense
DKC1base_D0028:g.11395C>T protEffect A353V
DKC1base_D0028:g.11395C>T mutType missense
DNMT3Bbase_D0096:g.40317C>T protEffect Q30X
DNMT3Bbase_D0096:g.40317C>T mutType nonsense
DNMT3Bbase_D0096:g.67766G>A protEffect R840Q
DNMT3Bbase_D0096:g.67766G>A mutType missense
DNMT3Bbase_D0096:g.67577G>A mutType deletion
DNMT3Bbase_D0096:g.41276C>T protEffect V699G
DNMT3Bbase_D0096:g.41276C>T mutType missense
DNMT3Bbase_D0096:g.61283T>G mutType missense
DNMT3Bbase_D0096:g.47313C>T protEffect Q204X
DNMT3Bbase_D0096:g.47313C>T mutType nonsense
DNMT3Bbase_D0096:g.60116T>C protEffect V606A
DNMT3Bbase_D0096:g.60116T>C mutType missense
DNMT3Bbase_D0096:g.48913T>C protEffect S270P
DNMT3Bbase_D0096:g.48913T>C mutType missense
DNMT3Bbase_D0096:g.60106G>A protEffect A603T
DNMT3Bbase_D0096:g.60106G>A mutType missense
DNMT3Bbase_D0096:g.67657G>A mutType insertion
DNMT3Bbase_D0096:g.62322T>G protEffect V726G
DNMT3Bbase_D0096:g.62322T>G mutType missense
DNMT3Bbase_D0096:g.65308G>C protEffect A766P
DNMT3Bbase_D0096:g.65308G>C mutType missense
DNMT3Bbase_D0096:g.67688A>G protEffect H814R
DNMT3Bbase_D0096:g.67688A>G mutType missense
DNMT3Bbase_D0096:g.67699G>A protEffect V818M
DNMT3Bbase_D0096:g.67699G>A mutType missense
DNMT3Bbase_D0096:g.67697A>G protEffect D817G
DNMT3Bbase_D0096:g.67697A>G mutType missense
ELA2base_D0029:g.1287A>G protEffect M1V
ELA2base_D0029:g.1287A>G mutType missense
ELA2base_Y00477.1:g.1808T>G protEffect I30M
ELA2base_Y00477.1:g.1808T>G mutType missense
ELA2base_Y00477.1:g.1912T>A protEffect V65D
ELA2base_Y00477.1:g.1912T>A mutType missense
ELA2base_Y00477.1:g.1792C>T protEffect A25V
ELA2base_Y00477.1:g.1792C>T mutType missense
ELA2base_D0029:g.1843C>T protEffect P42L
ELA2base_D0029:g.1843C>T mutType missense
ELA2base_D0029:g.1847C>A protEffect F43L
ELA2base_D0029:g.1847C>A mutType missense
ELA2base_D0029:g.1855C>T protEffect S46F
ELA2base_D0029:g.1855C>T mutType missense
ELA2base_D0029:g.1858T>C protEffect L47P
ELA2base_D0029:g.1858T>C mutType missense
ELA2base_D0029:g.1876A>T protEffect H53L
ELA2base_D0029:g.1876A>T mutType missense
ELA2base_D0029:g.1882G>A protEffect C55Y
ELA2base_D0029:g.1882G>A mutType missense
ELA2base_D0029:g.1887G>A protEffect A57T
ELA2base_D0029:g.1887G>A mutType missense
ELA2base_Y00477.1:g.1888C>T protEffect A57V
ELA2base_Y00477.1:g.1888C>T mutType missense
ELA2base_D0029:g.1897T>C protEffect I60T
ELA2base_D0029:g.1897T>C mutType missense
ELA2base_D0029:g.1900C>T protEffect A61V
ELA2base_D0029:g.1900C>T mutType missense
ELA2base_Y00477.1:g.1903_1926del protEffect 62_70delinsH
ELA2base_Y00477.1:g.1903_1926del mutType inframe
ELA2base_D0029:g.1929T>C protEffect C71R
ELA2base_D0029:g.1929T>C mutType missense
ELA2base_D0029:g.1929T>A protEffect C71S
ELA2base_D0029:g.1929T>A mutType missense
ELA2base_D0029:g.2190G>C protEffect R81P
ELA2base_D0029:g.2190G>C mutType missense
ELA2base_Y00477.1:g.2190G>C protEffect R81P
ELA2base_Y00477.1:g.2190G>C mutType missense
ELA2base_D0029:g.2192G>A protEffect V82M
ELA2base_D0029:g.2192G>A mutType missense
ELA2base_D0029:g.2199T>C protEffect L84P
ELA2base_D0029:g.2199T>C mutType missense
ELA2base_D0029:g.2202G>A protEffect G85E
ELA2base_D0029:g.2202G>A mutType missense
ELA2base_Y00477.1:g.2202G>A protEffect G85E
ELA2base_Y00477.1:g.2202G>A mutType missense
ELA2base_D0029:g.2249G>A protEffect V101M
ELA2base_D0029:g.2249G>A mutType missense
ELA2base_Y00477.1:g.2249G>A protEffect V101M
ELA2base_Y00477.1:g.2249G>A mutType missense
ELA2base_Y00477.1:g.2310T>A protEffect L121H
ELA2base_Y00477.1:g.2310T>A mutType missense
ELA2base_D0029:g.2310T>C protEffect L121P
ELA2base_D0029:g.2310T>C mutType missense
ELA2base_D0029:g.4495C>T protEffect S126L
ELA2base_D0029:g.4495C>T mutType missense
ELA2base_Y00477.1:g.4498C>A protEffect A127D
ELA2base_Y00477.1:g.4498C>A mutType missense
ELA2base_D0029:g.4497G>C protEffect A127P
ELA2base_D0029:g.4497G>C mutType missense
ELA2base_Y00477.1:g.4498_4500delCCA protEffect 127_128delinsA
ELA2base_Y00477.1:g.4498_4500delCCA mutType inframe
ELA2base_D0029:g.4534C>T protEffect P139L
ELA2base_D0029:g.4534C>T mutType missense
ELA2base_D0029:g.4569T>A protEffect C151S
ELA2base_D0029:g.4569T>A mutType missense
ELA2base_D0029:g.4570G>A protEffect C151Y
ELA2base_D0029:g.4570G>A mutType missense
ELA2base_D0029:g.4573T>C protEffect L152P
ELA2base_D0029:g.4573T>C mutType missense
ELA2base_Y00477.1:g.4614G>A protEffect A166T
ELA2base_Y00477.1:g.4614G>A mutType missense
ELA2base_D0029:g.4638_4661del protEffect V174_C181del
ELA2base_D0029:g.4638_4661del mutType inframe
ELA2base_Y00477.1:g.4892G>A protEffect G203D
ELA2base_Y00477.1:g.4892G>A mutType missense
ELA2base_D0029:g.4898C>G protEffect P205R
ELA2base_D0029:g.4898C>G mutType missense
ELA2base_D0029:g.4902G>T protEffect L206F
ELA2base_D0029:g.4902G>T mutType missense
ELA2base_D0029:g.4913G>T protEffect G210V
ELA2base_D0029:g.4913G>T mutType missense
ELA2base_D0029:g.4924G>A protEffect G214R
ELA2base_D0029:g.4924G>A mutType missense
ELA2base_Y00477.1:g.4924G>A protEffect G214R
ELA2base_Y00477.1:g.4924G>A mutType missense
ELA2base_D0029:g.4939G>A protEffect V219I
ELA2base_D0029:g.4939G>A mutType missense
ELA2base_D0029:g.4943G>A protEffect R220Q
ELA2base_D0029:g.4943G>A mutType missense
ELA2base_D0029:g.4945G>T protEffect G221X
ELA2base_D0029:g.4945G>T mutType nonsense
ELA2base_D0029:g.4953C>A protEffect C223X
ELA2base_D0029:g.4953C>A mutType nonsense
ELA2base_Y00477.1:g.4953C>A protEffect C223X
ELA2base_Y00477.1:g.4953C>A mutType nonsense
ELA2base_D0029:g.4958C>A protEffect S225X
ELA2base_D0029:g.4958C>A mutType nonsense
ELA2base_D0029:g.4968C>A protEffect Y228X
ELA2base_D0029:g.4968C>A mutType nonsense
ELA2base_D0029:g.4972delG protEffect D230X239
ELA2base_D0029:g.4972delG mutType frameshift
ELA2base_D0029:g.4981G>C protEffect A233P
ELA2base_D0029:g.4981G>C mutType missense
ELA2base_D0029:g.5054C>T protEffect P257L
ELA2base_D0029:g.5054C>T mutType missense
ELA2base_D0029:g.5069C>T protEffect P262L
ELA2base_D0029:g.5069C>T mutType missense
ELA2base_D0029:g.1246C>A mutType upstream
ELA2base_D0029:g.1063C>A mutType upstream
ELA2base_D0029:g.4477C>A protEffect 122_123insPQ
ELA2base_D0029:g.4477C>A mutType inframe
ELA2base_D0029:g.4716G>A protEffect V190_F199del
ELA2base_D0029:g.4716G>A mutType inframe
ELA2base_D0029:g.4718A>T protEffect V190_F199del
ELA2base_D0029:g.4718A>T mutType inframe
ELA2base_D0029:g.4720G>A protEffect V190_F199del
ELA2base_D0029:g.4720G>A mutType inframe
ELA2base_D0029:g.4676C>A protEffect V190_F199del
ELA2base_D0029:g.4676C>A mutType inframe
FASLGbase_D0090:g.83392_83475del protEffect M158_E185del
FASLGbase_D0090:g.83392_83475del mutType inframe
FASLGbase_D0090:g.83660C>A protEffect A247E
FASLGbase_D0090:g.83660C>A mutType missense
FCGR1Abase_D0032:g.2493C>T protEffect R92X
FCGR1Abase_D0032:g.2493C>T mutType nonsense
FCGR3Abase_D0033:g.2217T>A protEffect L66H
FCGR3Abase_D0033:g.2217T>A mutType missense
FOXN1base_D0034:g.56561C>T protEffect R255X
FOXN1base_D0034:g.56561C>T mutType nonsense
FOXP3base_D0035:g.81684_81685delinsGC protEffect F373A
FOXP3base_D0035:g.81684_81685delinsGC mutType missense
FOXP3base_D0035:g.74878G>A protEffect M1I
FOXP3base_D0035:g.74878G>A mutType missense
FOXP3base_D0035:g.74877T>C protEffect M1T
FOXP3base_D0035:g.74877T>C mutType missense
FOXP3base_D0035:g.75629delT protEffect L76X128
FOXP3base_D0035:g.75629delT mutType frameshift
FOXP3base_D0035:g.75705_75706delTT protEffect H101X204
FOXP3base_D0035:g.75705_75706delTT mutType frameshift
FOXP3base_D0035:g.76526C>T protEffect S181S
FOXP3base_D0035:g.76526C>T mutType missense
FOXP3base_D0035:g.80177T>C protEffect F324L
FOXP3base_D0035:g.80177T>C mutType missense
FOXP3base_D0035:g.76543C>T protEffect P187L
FOXP3base_D0035:g.76543C>T mutType missense
FOXP3base_D0035:g.77652T>C protEffect L242P
FOXP3base_D0035:g.77652T>C mutType missense
FOXP3base_D0035:g.77880_77882delAAG protEffect K250del
FOXP3base_D0035:g.77880_77882delAAG mutType inframe
FOXP3base_D0035:g.77883_77885delGAG protEffect E251del
FOXP3base_D0035:g.77883_77885delGAG mutType inframe
FOXP3base_D0035:g.80217G>A protEffect R337Q
FOXP3base_D0035:g.80217G>A mutType missense
FOXP3base_D0035:g.80222C>G protEffect P339A
FOXP3base_D0035:g.80222C>G mutType missense
FOXP3base_D0035:g.80247G>A protEffect R347H
FOXP3base_D0035:g.80247G>A mutType missense
FOXP3base_D0035:g.81654A>G protEffect I363V
FOXP3base_D0035:g.81654A>G mutType missense
FOXP3base_D0035:g.81666T>C protEffect F367L
FOXP3base_D0035:g.81666T>C mutType missense
FOXP3base_D0035:g.81668C>G protEffect F367L
FOXP3base_D0035:g.81668C>G mutType missense
FOXP3base_D0035:g.81679T>G protEffect F371C
FOXP3base_D0035:g.81679T>G mutType missense
FOXP3base_D0035:g.81684T>G protEffect F373V
FOXP3base_D0035:g.81684T>G mutType missense
FOXP3base_D0035:g.81688T>G protEffect F374C
FOXP3base_D0035:g.81688T>G mutType missense
FOXP3base_D0035:g.81706C>T protEffect T380I
FOXP3base_D0035:g.81706C>T mutType missense
FOXP3base_D0035:g.81897G>A protEffect A384T
FOXP3base_D0035:g.81897G>A mutType missense
FOXP3base_D0035:g.81936C>T protEffect R397W
FOXP3base_D0035:g.81936C>T mutType missense
FOXP3base_D0035:g.81969G>A protEffect V408M
FOXP3base_D0035:g.81969G>A mutType missense
FOXP3base_D0035:g.82040_82041delCT protEffect P431X457
FOXP3base_D0035:g.82040_82041delCT mutType frameshift
GFI1base_D0037:g.4502G>A protEffect S36N
GFI1base_D0037:g.4502G>A mutType missense
GFI1base_D0037:g.11730A>G protEffect N382S
GFI1base_D0037:g.11730A>G mutType missense
GFI1base_D0037:g.11793A>G protEffect K403R
GFI1base_D0037:g.11793A>G mutType missense
HAX1base_D0121:g.1863delG protEffect E31X84
HAX1base_D0121:g.1863delG mutType frameshift
HAX1base_D0121:g.3655C>T protEffect Q190X
HAX1base_D0121:g.3655C>T mutType nonsense
HAX1base_D0121:g.1902_1903insA protEffect W44X
HAX1base_D0121:g.1902_1903insA mutType nonsense
HAX1base_D0121:g.1946_1947insC protEffect E59X78
HAX1base_D0121:g.1946_1947insC mutType frameshift
HAX1base_D0121:g.1952delA protEffect E60X84
HAX1base_D0121:g.1952delA mutType frameshift
HAX1base_D0121:g.2028C>T protEffect R86X
HAX1base_D0121:g.2028C>T mutType nonsense
HAX1base_D0121:g.2315_2328del protEffect Q123X126
HAX1base_D0121:g.2315_2328del mutType frameshift
HAX1base_D0121:g.2336T>G protEffect L130R
HAX1base_D0121:g.2336T>G mutType missense
HAX1base_D0121:g.2377dupG protEffect V144X148
HAX1base_D0121:g.2377dupG mutType frameshift
HAX1base_D0121:g.2378T>G protEffect V144G
HAX1base_D0121:g.2378T>G mutType missense
HAX1base_D0121:g.2356C>T protEffect Q137X
HAX1base_D0121:g.2356C>T mutType nonsense
HAX1base_D0121:g.2368T>C protEffect F141L
HAX1base_D0121:g.2368T>C mutType missense
HAX1base_D0121:g.2410dupC protEffect Q155X168
HAX1base_D0121:g.2410dupC mutType frameshift
HAX1base_D0121:g.3449G>A protEffect V172I
HAX1base_D0121:g.3449G>A mutType missense
ICOSbase_D0039:g.172403delT protEffect F95X121
ICOSbase_D0039:g.172403delT mutType frameshift
ICOSbase_D0039:g.171583_173397del protEffect G20X29
ICOSbase_D0039:g.171583_173397del mutType deletion
IFNGR1base_D0041:g.32897delC protEffect P8X14
IFNGR1base_D0041:g.32897delC mutType frameshift
IFNGR1base_D0041:g.45144dupT protEffect T36X38
IFNGR1base_D0041:g.45144dupT mutType frameshift
IFNGR1base_D0041:g.45145_45146insT protEffect T36X38
IFNGR1base_D0041:g.45145_45146insT mutType frameshift
IFNGR1base_D0041:g.45236A>G protEffect Y66C
IFNGR1base_D0041:g.45236A>G mutType missense
IFNGR1base_D0041:g.45207delC protEffect V56X61
IFNGR1base_D0041:g.45207delC mutType frameshift
IFNGR1base_D0041:g.45947G>A protEffect C85Y
IFNGR1base_D0041:g.45947G>A mutType missense
IFNGR1base_D0041:g.47847delT protEffect Y175X176
IFNGR1base_D0041:g.47847delT mutType frameshift
IFNGR1base_D0041:g.45146_45147dupTTAC protEffect T36X39
IFNGR1base_D0041:g.45146_45147dupTTAC mutType frameshift
IFNGR1base_D0041:g.45240G>T protEffect V29X104
IFNGR1base_D0041:g.45240G>T mutType frameshift
IFNGR1base_D0041:g.45170delC protEffect P44X61
IFNGR1base_D0041:g.45170delC mutType frameshift
IFNGR1base_D0041:g.45221T>A protEffect V61E
IFNGR1base_D0041:g.45221T>A mutType missense
IFNGR1base_D0041:g.48623_48625delAAG protEffect 218_219delinsG
IFNGR1base_D0041:g.48623_48625delAAG mutType inframe
IFNGR1base_D0041:g.45227T>G protEffect V63G
IFNGR1base_D0041:g.45227T>G mutType missense
IFNGR1base_D0041:g.45923G>A protEffect C77Y
IFNGR1base_D0041:g.45923G>A mutType missense
IFNGR1base_D0041:g.45953T>C protEffect I87T
IFNGR1base_D0041:g.45953T>C mutType missense
IFNGR1base_D0041:g.45988_45999del protEffect W99_V102del
IFNGR1base_D0041:g.45988_45999del mutType inframe
IFNGR1base_D0041:g.46040C>A protEffect S116X
IFNGR1base_D0041:g.46040C>A mutType nonsense
IFNGR1base_D0041:g.46067G>T protEffect G67X73
IFNGR1base_D0041:g.46067G>T mutType frameshift
IFNGR1base_D0041:g.48531_48534delACTC protEffect I187X201
IFNGR1base_D0041:g.48531_48534delACTC mutType frameshift
IFNGR1base_D0041:g.51234_51237delTCTA protEffect F258X275
IFNGR1base_D0041:g.51234_51237delTCTA mutType frameshift
IFNGR1base_D0041:g.51271_51274delAAGA protEffect K271X275
IFNGR1base_D0041:g.51271_51274delAAGA mutType frameshift
IFNGR1base_D0041:g.51278_51281delTTAA protEffect I273X275
IFNGR1base_D0041:g.51278_51281delTTAA mutType frameshift
IFNGR1base_D0041:g.51278delT protEffect I273X276
IFNGR1base_D0041:g.51278delT mutType frameshift
IFNGR1base_D0041:g.51277dupA protEffect I273X274
IFNGR1base_D0041:g.51277dupA mutType frameshift
IFNGR1base_D0041:g.51292G>T protEffect E278X
IFNGR1base_D0041:g.51292G>T mutType nonsense
IFNGR1base_D0041:g.54101T>C protEffect L467P
IFNGR1base_D0041:g.54101T>C mutType missense
IFNGR1base_D0041:g.45892A>G protEffect 67_101delinsG
IFNGR1base_D0041:g.45892A>G mutType inframe
IFNGR2base_D0042:g.19766_19767dupACAATG protEffect 129_130insTM
IFNGR2base_D0042:g.19766_19767dupACAATG mutType inframe
IFNGR2base_D0042:g.19657_19658delAG protEffect E93X94
IFNGR2base_D0042:g.19657_19658delAG mutType frameshift
IFNGR2base_D0042:g.19719C>T protEffect R114C
IFNGR2base_D0042:g.19719C>T mutType missense
IFNGR2base_D0042:g.25080C>A protEffect T168N
IFNGR2base_D0042:g.25080C>A mutType missense
IFNGR2base_D0042:g.30384_30410del protEffect 221_230delinsS
IFNGR2base_D0042:g.30384_30410del mutType inframe
IFNGR2base_D0042:g.30889delG protEffect G264X271
IFNGR2base_D0042:g.30889delG mutType frameshift
IGHG2base_D0043:g.1795dupG protEffect G416X417
IGHG2base_D0043:g.1795dupG mutType frameshift
IGHG2base_D0043:g.513A>G protEffect V185X217
IGHG2base_D0043:g.513A>G mutType frameshift
IGHMbase_X57331.1:g.1217delA protEffect T400X402
IGHMbase_X57331.1:g.1217delA mutType frameshift
IGHMbase_X57331.1:g.1255G>A protEffect W412X
IGHMbase_X57331.1:g.1255G>A mutType nonsense
IGHMbase_X57331.1:g.738_739delAA protEffect K322X405
IGHMbase_X57331.1:g.738_739delAA mutType frameshift
IGHMbase_X57331.1:g.1893T>G protEffect C566G
IGHMbase_X57331.1:g.1893T>G mutType missense
IGHMbase_X57331.1:g.1956G>A protEffect E587K
IGHMbase_X57331.1:g.1956G>A mutType missense
IGLL1base_D0045:g.258C>T protEffect Q22X
IGLL1base_D0045:g.258C>T mutType nonsense
IGLL1base_D0045:g.6904C>T protEffect P142L
IGLL1base_D0045:g.6904C>T mutType missense
IKBKGbase_D0046:g.9771G>T protEffect V14L
IKBKGbase_D0046:g.9771G>T mutType missense
IKBKGbase_D0046:g.9842_9843insC protEffect M38X49
IKBKGbase_D0046:g.9842_9843insC mutType frameshift
IKBKGbase_D0046:g.9900G>A protEffect E57K
IKBKGbase_D0046:g.9900G>A mutType missense
IKBKGbase_D0046:g.9915C>T protEffect R62X
IKBKGbase_D0046:g.9915C>T mutType nonsense
IKBKGbase_D0046:g.13951T>C protEffect L80P
IKBKGbase_D0046:g.13951T>C mutType missense
IKBKGbase_D0046:g.13978_13980delAGA protEffect 89_90delinsE
IKBKGbase_D0046:g.13978_13980delAGA mutType inframe
IKBKGbase_D0046:g.14049G>A protEffect D113N
IKBKGbase_D0046:g.14049G>A mutType missense
IKBKGbase_D0046:g.14079C>T protEffect R123W
IKBKGbase_D0046:g.14079C>T mutType missense
IKBKGbase_D0046:g.16325T>G protEffect L153R
IKBKGbase_D0046:g.16325T>G mutType missense
IKBKGbase_D0046:g.16384C>G protEffect R173G
IKBKGbase_D0046:g.16384C>G mutType missense
IKBKGbase_D0046:g.18148G>C protEffect R175P
IKBKGbase_D0046:g.18148G>C mutType missense
IKBKGbase_D0046:g.18173G>C protEffect Q183H
IKBKGbase_D0046:g.18173G>C mutType missense
IKBKGbase_D0046:g.19432T>C protEffect L227P
IKBKGbase_D0046:g.19432T>C mutType missense
IKBKGbase_D0046:g.19467C>T protEffect Q239X
IKBKGbase_D0046:g.19467C>T mutType nonsense
IKBKGbase_D0046:g.19470G>T protEffect E240X
IKBKGbase_D0046:g.19470G>T mutType nonsense
IKBKGbase_D0046:g.20567_20568insA protEffect Q265X283
IKBKGbase_D0046:g.20567_20568insA mutType frameshift
IKBKGbase_D0046:g.20586_20603del protEffect E271_A276del
IKBKGbase_D0046:g.20586_20603del mutType inframe
IKBKGbase_D0046:g.20638C>G protEffect A288G
IKBKGbase_D0046:g.20638C>G mutType missense
IKBKGbase_D0046:g.21326A>C protEffect E315A
IKBKGbase_D0046:g.21326A>C mutType missense
IKBKGbase_D0046:g.21325_21326insG protEffect E315X394
IKBKGbase_D0046:g.21325_21326insG mutType frameshift
IKBKGbase_D0046:g.21338G>A protEffect R319Q
IKBKGbase_D0046:g.21338G>A mutType missense
IKBKGbase_D0046:g.21349G>C protEffect A323P
IKBKGbase_D0046:g.21349G>C mutType missense
IKBKGbase_D0046:g.21376C>T protEffect Q332X
IKBKGbase_D0046:g.21376C>T mutType nonsense
IKBKGbase_D0046:g.21714C>T protEffect R359W
IKBKGbase_D0046:g.21714C>T mutType missense
IKBKGbase_D0046:g.21716delG protEffect R359X450
IKBKGbase_D0046:g.21716delG mutType frameshift
IKBKGbase_D0046:g.21754delC protEffect P372X450
IKBKGbase_D0046:g.21754delC mutType frameshift
IKBKGbase_D0046:g.22087C>T protEffect Q384X
IKBKGbase_D0046:g.22087C>T mutType nonsense
IKBKGbase_D0046:g.22103_22104insAC protEffect P389X451
IKBKGbase_D0046:g.22103_22104insAC mutType frameshift
IKBKGbase_D0046:g.22104_22105insC protEffect E390X394
IKBKGbase_D0046:g.22104_22105insC mutType frameshift
IKBKGbase_D0046:g.22108G>T protEffect E391X
IKBKGbase_D0046:g.22108G>T mutType nonsense
IKBKGbase_D0046:g.22144C>T protEffect Q403X
IKBKGbase_D0046:g.22144C>T mutType nonsense
IKBKGbase_D0046:g.22154A>T protEffect D406V
IKBKGbase_D0046:g.22154A>T mutType missense
IKBKGbase_D0046:g.22154_22155insA protEffect D406X419
IKBKGbase_D0046:g.22154_22155insA mutType frameshift
IKBKGbase_D0046:g.22187G>T protEffect C417F
IKBKGbase_D0046:g.22187G>T mutType missense
IKBKGbase_D0046:g.22186T>C protEffect C417R
IKBKGbase_D0046:g.22186T>C mutType missense
IKBKGbase_D0046:g.22187G>A protEffect C417Y
IKBKGbase_D0046:g.22187G>A mutType missense
IKBKGbase_D0046:g.22196A>G protEffect X420X447
IKBKGbase_D0046:g.22196A>G mutType terminator
IKBKGbase_D0046:g.19525G>A protEffect Q134_R256del
IKBKGbase_D0046:g.19525G>A mutType inframe
IKBKGbase_D0046:g.21694G>A protEffect I353X430
IKBKGbase_D0046:g.21694G>A mutType deletion
IL12Bbase_D0047:g.9794_9801delTTCGCTCC protEffect H99X112
IL12Bbase_D0047:g.9794_9801delTTCGCTCC mutType frameshift
IL12Bbase_D0047:g.9817dupA protEffect K107X115
IL12Bbase_D0047:g.9817dupA mutType frameshift
IL12RB1base_D0048:g.4426C>T protEffect Q32X
IL12RB1base_D0048:g.4426C>T mutType nonsense
IL12RB1base_D0048:g.25615_25616delinsTT protEffect V541X542
IL12RB1base_D0048:g.5729T>C protEffect L77P
IL12RB1base_D0048:g.5729T>C mutType missense
IL12RB1base_D0048:g.10335A>C protEffect Q171P
IL12RB1base_D0048:g.10335A>C mutType missense
IL12RB1base_D0048:g.15762_15763delinsG protEffect A336X345
IL12RB1base_D0048:g.15762_15763delinsG mutType frameshift
IL12RB1base_D0048:g.10341G>C protEffect R173P
IL12RB1base_D0048:g.10341G>C mutType missense
IL12RB1base_D0048:g.12031T>C protEffect C198R
IL12RB1base_D0048:g.12031T>C mutType missense
IL12RB1base_D0048:g.12071G>C protEffect R211P
IL12RB1base_D0048:g.12071G>C mutType missense
IL12RB1base_D0048:g.12076C>T protEffect R213W
IL12RB1base_D0048:g.12076C>T mutType missense
IL12RB1base_D0048:g.12083_12084dup protEffect L215X247
IL12RB1base_D0048:g.12083_12084dup mutType frameshift
IL12RB1base_D0048:g.14298dupC protEffect P237X294
IL12RB1base_D0048:g.14298dupC mutType frameshift
IL12RB1base_D0048:g.15668A>T protEffect K305X
IL12RB1base_D0048:g.15668A>T mutType nonsense
IL12RB1base_D0048:g.15717C>A protEffect S321X
IL12RB1base_D0048:g.15717C>A mutType nonsense
IL12RB1base_D0048:g.18253A>G protEffect Y367C
IL12RB1base_D0048:g.18253A>G mutType missense
IL12RB1base_D0048:g.18279C>T protEffect Q376X
IL12RB1base_D0048:g.18279C>T mutType nonsense
IL12RB1base_D0048:g.21319C>T protEffect R486X
IL12RB1base_D0048:g.21319C>T mutType nonsense
IL12RB1base_D0048:g.26724_26725dupCA protEffect P584X620
IL12RB1base_D0048:g.26724_26725dupCA mutType frameshift
IL12RB1base_D0048:g.11559A>G protEffect G184X192
IL12RB1base_D0048:g.11559A>G mutType deletion
IL12RB1base_D0048:g.11568_11574delinsAGATATCA protEffect 137_194delinsE
IL12RB1base_D0048:g.11568_11574delinsAGATATCA mutType inframe
IL12RB1base_D0048:g.10290_10306del protEffect V137X144
IL12RB1base_D0048:g.10290_10306del mutType deletion
IL12RB1base_D0048:g.14372G>C protEffect E234X266
IL12RB1base_D0048:g.14372G>C mutType frameshift
IL12RB1base_D0048:g.14372G>A protEffect E234X266
IL12RB1base_D0048:g.14372G>A mutType deletion
IL12RB1base_D0048:g.12502_24667del protEffect 234_540delinsE
IL12RB1base_D0048:g.12502_24667del mutType inframe
IL2RAbase_D0049:g.37297_37300delGCAG protEffect A21X46
IL2RAbase_D0049:g.37297_37300delGCAG mutType frameshift
IL2RAbase_D0049:g.39016C>T protEffect Q101X
IL2RAbase_D0049:g.39016C>T mutType nonsense
IL2RAbase_D0049:g.43863dupA protEffect E231X269
IL2RAbase_D0049:g.43863dupA mutType frameshift
IL7Rbase_D0050:g.11505T>A protEffect T125T
IL7Rbase_D0050:g.11505T>A mutType missense
IL7Rbase_D0050:g.15116C>T protEffect P132S
IL7Rbase_D0050:g.15116C>T mutType missense
IL7Rbase_D0050:g.17604C>T protEffect R206X
IL7Rbase_D0050:g.17604C>T mutType nonsense
IL7Rbase_D0050:g.17639G>A protEffect W217X
IL7Rbase_D0050:g.17639G>A mutType nonsense
IRAK4base_D0051:g.11082C>T protEffect R12C
IRAK4base_D0051:g.11082C>T mutType missense
IRAK4base_D0051:g.26645G>A protEffect R391H
IRAK4base_D0051:g.26645G>A mutType missense
IRAK4base_D0051:g.11171dupA protEffect P42X45
IRAK4base_D0051:g.11171dupA mutType frameshift
IRAK4base_D0051:g.11192C>G protEffect Y48X
IRAK4base_D0051:g.11192C>G mutType nonsense
IRAK4base_D0051:g.15989delG protEffect A211X212
IRAK4base_D0051:g.15989delG mutType frameshift
IRAK4base_D0051:g.15882delA protEffect 175_175delins31
IRAK4base_D0051:g.15882delA mutType frameshift
IRAK4base_D0051:g.15978_15979delAC protEffect N207X219
IRAK4base_D0051:g.15978_15979delAC mutType frameshift
IRAK4base_D0051:g.21175C>T protEffect Q293X
IRAK4base_D0051:g.21175C>T mutType nonsense
IRAK4base_D0051:g.20671delT protEffect L274X287
IRAK4base_D0051:g.20671delT mutType frameshift
IRAK4base_D0051:g.29351G>T protEffect E402X
IRAK4base_D0051:g.29351G>T mutType nonsense
ITGB2base_AL163300.2:g.11109T>A protEffect M1K
ITGB2base_AL163300.2:g.11109T>A mutType missense
ITGB2base_D0052:g.33187delT protEffect D690X714
ITGB2base_D0052:g.33187delT mutType frameshift
ITGB2base_D0052:g.21401C>A protEffect 247_248insPSSQ
ITGB2base_D0052:g.21401C>A mutType inframe
ITGB2base_AL163300.2:g.11536_11537insC protEffect T26X58
ITGB2base_AL163300.2:g.11536_11537insC mutType frameshift
ITGB2base_AL163300.2:g.11538A>T protEffect K27X
ITGB2base_AL163300.2:g.11538A>T mutType nonsense
ITGB2base_AL163300.2:g.33187delT protEffect D690X714
ITGB2base_AL163300.2:g.33187delT mutType frameshift
ITGB2base_AL163300.2:g.18418A>C protEffect Y131S
ITGB2base_AL163300.2:g.18418A>C mutType missense
ITGB2base_AL163300.2:g.18475G>A protEffect G150D
ITGB2base_AL163300.2:g.18475G>A mutType missense
ITGB2base_AL163300.2:g.20162G>A protEffect G169R
ITGB2base_AL163300.2:g.20162G>A mutType missense
ITGB2base_D0052:g.32514C>T protEffect R593C
ITGB2base_D0052:g.32514C>T mutType missense
ITGB2base_AL163300.2:g.20270_20271insA protEffect R205X264
ITGB2base_AL163300.2:g.20270_20271insA mutType frameshift
ITGB2base_D0052:g.21523G>A protEffect G284S
ITGB2base_D0052:g.21523G>A mutType missense
ITGB2base_AL163300.2:g.31857C>A protEffect C534X
ITGB2base_AL163300.2:g.31857C>A mutType nonsense
ITGB2base_AL163300.2:g.21519C>A protEffect N282K
ITGB2base_AL163300.2:g.21519C>A mutType missense
ITGB2base_D0052:g.31752delG protEffect K499X528
ITGB2base_D0052:g.31752delG mutType frameshift
ITGB2base_AL163300.2:g.28405delC protEffect T381X390
ITGB2base_AL163300.2:g.28405delC mutType frameshift
ITGB2base_D0052:g.33037delG protEffect G640X657
ITGB2base_D0052:g.33037delG mutType frameshift
ITGB2base_D0052:g.31877_31912del protEffect 541_553delinsW
ITGB2base_D0052:g.31877_31912del mutType inframe
ITGB2base_D0052:g.35107G>T protEffect E734X
ITGB2base_D0052:g.35107G>T mutType nonsense
ITGB2base_AL163300.2:g.32571T>C protEffect C612R
ITGB2base_AL163300.2:g.32571T>C mutType missense
ITGB2base_AL163300.2:g.33024delA protEffect K636X657
ITGB2base_AL163300.2:g.33024delA mutType frameshift
ITGB2base_D0052:g.20145T>G protEffect G167X214
ITGB2base_D0052:g.20145T>G mutType deletion
ITGB2base_D0052:g.21571G>A protEffect D300X334
ITGB2base_D0052:g.21571G>A mutType insertion
ITGB2base_D0052:g.26922G>C protEffect K332_N361del
ITGB2base_D0052:g.26922G>C mutType inframe
ITGB2base_D0052:g.18318_18486del protEffect 110_167delinsG
ITGB2base_D0052:g.18318_18486del mutType inframe
JAK3base_D0095:g.5057A>G protEffect M1V
JAK3base_D0095:g.5057A>G mutType missense
JAK3base_D0095:g.5164delG protEffect 36_36delins111
JAK3base_D0095:g.5164delG mutType frameshift
JAK3base_D0095:g.5227_5229delTGC protEffect 57_58delinsA
JAK3base_D0095:g.5227_5229delTGC mutType inframe
JAK3base_D0095:g.6388C>A protEffect D169E
JAK3base_D0095:g.6388C>A mutType missense
JAK3base_D0095:g.5228G>C protEffect A58P
JAK3base_D0095:g.5228G>C mutType missense
JAK3base_D0095:g.18947delC protEffect C1024X1037
JAK3base_D0095:g.18947delC mutType frameshift
JAK3base_D0095:g.5688A>G protEffect Y100C
JAK3base_D0095:g.5688A>G mutType missense
JAK3base_D0095:g.6333C>G protEffect P151R
JAK3base_D0095:g.6333C>G mutType missense
JAK3base_D0095:g.9168dupG protEffect G393X409
JAK3base_D0095:g.9168dupG mutType frameshift
JAK3base_D0095:g.11536C>A protEffect C565X
JAK3base_D0095:g.11536C>A mutType nonsense
JAK3base_D0095:g.9889C>T protEffect R445X
JAK3base_D0095:g.9889C>T mutType nonsense
JAK3base_D0095:g.14828T>C protEffect C759R
JAK3base_D0095:g.14828T>C mutType missense
JAK3base_D0095:g.11084A>G protEffect E481G
JAK3base_D0095:g.11084A>G mutType missense
JAK3base_D0095:g.11084_11542del protEffect E481_S596del
JAK3base_D0095:g.11084_11542del mutType inframe
JAK3base_D0095:g.11210G>A protEffect W523X
JAK3base_D0095:g.11210G>A mutType nonsense
JAK3base_D0095:g.12303C>T protEffect R582W
JAK3base_D0095:g.12303C>T mutType missense
JAK3base_D0095:g.12324G>A protEffect G589S
JAK3base_D0095:g.12324G>A mutType missense
JAK3base_D0095:g.12326C>T protEffect V590_S596del
JAK3base_D0095:g.12326C>T mutType inframe
JAK3base_D0095:g.14295C>T protEffect R651W
JAK3base_D0095:g.14295C>T mutType missense
JAK3base_D0095:g.14503G>A protEffect E694K
JAK3base_D0095:g.14503G>A mutType missense
JAK3base_D0095:g.14488C>T protEffect P689S
JAK3base_D0095:g.14488C>T mutType missense
JAK3base_D0095:g.14543A>C protEffect D707A
JAK3base_D0095:g.14543A>C mutType missense
JAK3base_D0095:g.18135T>G protEffect L956R
JAK3base_D0095:g.18135T>G mutType missense
JAK3base_D0095:g.14587G>A protEffect V722I
JAK3base_D0095:g.14587G>A mutType missense
JAK3base_D0095:g.14849C>T protEffect Q766X
JAK3base_D0095:g.14849C>T mutType nonsense
JAK3base_D0095:g.14864C>T protEffect R771X
JAK3base_D0095:g.14864C>T mutType nonsense
JAK3base_D0095:g.17724T>C protEffect L910S
JAK3base_D0095:g.17724T>C mutType missense
JAK3base_D0095:g.18944C>A protEffect Y1023X
JAK3base_D0095:g.18944C>A mutType nonsense
JAK3base_D0095:g.18229C>T protEffect G987X1031
JAK3base_D0095:g.18229C>T mutType deletion
JAK3base_D0095:g.11082A>G protEffect E481X517
JAK3base_D0095:g.11082A>G mutType frameshift
JAK3base_D0095:g.14515G>T protEffect E698X
JAK3base_D0095:g.14515G>T mutType nonsense
JAK3base_D0095:g.14905T>C protEffect 734_784delins61
JAK3base_D0095:g.14905T>C mutType frameshift
LIG1base_D0053:g.38293G>A protEffect E566K
LIG1base_D0053:g.38293G>A mutType missense
LIG1base_D0053:g.50060C>T protEffect R771W
LIG1base_D0053:g.50060C>T mutType missense
LIG4base_D0054:g.4522C>T protEffect A3V
LIG4base_D0054:g.4522C>T mutType missense
LIG4base_D0054:g.4540C>T protEffect T9I
LIG4base_D0054:g.4540C>T mutType missense
LIG4base_D0054:g.5347G>A protEffect R278H
LIG4base_D0054:g.5347G>A mutType missense
LIG4base_D0054:g.5259A>G protEffect M249V
LIG4base_D0054:g.5259A>G mutType missense
LIG4base_D0054:g.5784_5788delAAAAG protEffect K424X443
LIG4base_D0054:g.5784_5788delAAAAG mutType frameshift
LIG4base_D0054:g.5353A>G protEffect Q280R
LIG4base_D0054:g.5353A>G mutType missense
LIG4base_D0054:g.5785_5789delAAAGA protEffect K424X443
LIG4base_D0054:g.5785_5789delAAAGA mutType frameshift
LIG4base_D0054:g.5359A>T protEffect H282L
LIG4base_D0054:g.5359A>T mutType missense
LIG4base_D0054:g.5811_5813delCAA protEffect Q433del
LIG4base_D0054:g.5811_5813delCAA mutType inframe
LIG4base_D0054:g.5920G>A protEffect G469E
LIG4base_D0054:g.5920G>A mutType missense
LIG4base_D0054:g.6954C>T protEffect R814X
LIG4base_D0054:g.6954C>T mutType nonsense
LIG4base_D0054:g.6252C>T protEffect R580X
LIG4base_D0054:g.6252C>T mutType nonsense
LRRC8Abase_D0055:g.2347_12872del protEffect I720X755
LRRC8Abase_D0055:g.2347_12872del mutType insertion
LYSTbase_D0020:g.37626_37627insG protEffect A40X63
LYSTbase_D0020:g.37626_37627insG mutType frameshift
LYSTbase_D0020:g.37656C>T protEffect R50X
LYSTbase_D0020:g.37656C>T mutType nonsense
LYSTbase_D0020:g.57683dupT protEffect L192X197
LYSTbase_D0020:g.57683dupT mutType frameshift
LYSTbase_D0020:g.58575delG protEffect E489X566
LYSTbase_D0020:g.58575delG mutType frameshift
LYSTbase_D0020:g.58648C>T protEffect R514X
LYSTbase_D0020:g.58648C>T mutType nonsense
LYSTbase_D0020:g.155837delT protEffect F3298X3304
LYSTbase_D0020:g.155837delT mutType frameshift
LYSTbase_D0020:g.59010_59011insA protEffect A635X638
LYSTbase_D0020:g.59010_59011insA mutType frameshift
LYSTbase_D0020:g.61244delA protEffect K818X823
LYSTbase_D0020:g.61244delA mutType frameshift
LYSTbase_D0020:g.61410delT protEffect F874X898
LYSTbase_D0020:g.61410delT mutType frameshift
LYSTbase_D0020:g.61863_61864delAA protEffect N1025X1030
LYSTbase_D0020:g.61863_61864delAA mutType frameshift
LYSTbase_D0020:g.61875C>T protEffect Q1029X
LYSTbase_D0020:g.61875C>T mutType nonsense
LYSTbase_D0020:g.62100C>T protEffect R1104X
LYSTbase_D0020:g.62100C>T mutType nonsense
LYSTbase_D0020:g.63300_63301insA protEffect H1145X1153
LYSTbase_D0020:g.63300_63301insA mutType frameshift
LYSTbase_D0020:g.64928C>T protEffect Q1208X
LYSTbase_D0020:g.64928C>T mutType nonsense
LYSTbase_D0020:g.190799G>T protEffect E3668X
LYSTbase_D0020:g.190799G>T mutType nonsense
LYSTbase_D0020:g.74359C>G protEffect S1351X
LYSTbase_D0020:g.74359C>G mutType nonsense
LYSTbase_D0020:g.75958delT protEffect L1425X1426
LYSTbase_D0020:g.75958delT mutType frameshift
LYSTbase_D0020:g.133336G>A protEffect E2810K
LYSTbase_D0020:g.133336G>A mutType missense
LYSTbase_D0020:g.86908T>A protEffect Y1687X
LYSTbase_D0020:g.86908T>A mutType nonsense
LYSTbase_D0020:g.76045C>A protEffect A1454D
LYSTbase_D0020:g.76045C>A mutType missense
LYSTbase_D0020:g.79225G>A protEffect R1563H
LYSTbase_D0020:g.79225G>A mutType missense
LYSTbase_D0020:g.85980delA protEffect G1668X1696
LYSTbase_D0020:g.85980delA mutType frameshift
LYSTbase_D0020:g.90720delA protEffect R1773X1785
LYSTbase_D0020:g.90720delA mutType frameshift
LYSTbase_D0020:g.143810_143811ins10 mutType frameshift
LYSTbase_D0020:g.92898delC protEffect S1840X1841
LYSTbase_D0020:g.92898delC mutType frameshift
LYSTbase_D0020:g.101722T>A protEffect V1999D
LYSTbase_D0020:g.101722T>A mutType missense
LYSTbase_D0020:g.101804C>A protEffect Y2026X
LYSTbase_D0020:g.101804C>A mutType nonsense
LYSTbase_D0020:g.112279_112285delCTATTAG protEffect L2354X2369
LYSTbase_D0020:g.112279_112285delCTATTAG mutType frameshift
LYSTbase_D0020:g.115849delT protEffect Y2519X2528
LYSTbase_D0020:g.115849delT mutType frameshift
LYSTbase_D0020:g.134067G>A protEffect W2861X
LYSTbase_D0020:g.134067G>A mutType nonsense
LYSTbase_D0020:g.151177delA protEffect Y3197X3258
LYSTbase_D0020:g.151177delA mutType frameshift
LYSTbase_D0020:g.170674delA protEffect K3465X3467
LYSTbase_D0020:g.170674delA mutType frameshift
MAPBPIPbase_D0123:g.4581C>A mutType downstream
MASP2base_D0056:g.1630A>G protEffect D120G
MASP2base_D0056:g.1630A>G mutType missense
MLPHbase_D0059:g.7243C>T protEffect R35W
MLPHbase_D0059:g.7243C>T mutType missense
MPObase_D0060:g.3520delA protEffect T109X113
MPObase_D0060:g.3520delA mutType frameshift
MPObase_D0060:g.3899A>G protEffect Y173C
MPObase_D0060:g.3899A>G mutType missense
MPObase_D0060:g.4311T>C protEffect M251T
MPObase_D0060:g.4311T>C mutType missense
MPObase_D0060:g.9953_9966del protEffect P518X539
MPObase_D0060:g.9953_9966del mutType frameshift
MPObase_D0060:g.10600C>T protEffect R569W
MPObase_D0060:g.10600C>T mutType missense
MPObase_D0060:g.5414C>T protEffect A332V
MPObase_D0060:g.5414C>T mutType missense
MPObase_D0060:g.10610T>G protEffect L572W
MPObase_D0060:g.10610T>G mutType missense
MPObase_D0060:g.5531A>G protEffect D371G
MPObase_D0060:g.5531A>G mutType missense
MPObase_D0060:g.9896C>T protEffect R499C
MPObase_D0060:g.9896C>T mutType missense
MPObase_D0060:g.9902G>A protEffect G501S
MPObase_D0060:g.9902G>A mutType missense
MPObase_D0060:g.12564A>C protEffect R677X750
MPObase_D0060:g.12564A>C mutType frameshift
MPObase_D0060:g.11675T>C protEffect W643R
MPObase_D0060:g.11675T>C mutType missense
MRE11Abase_D0061:g.15119A>G protEffect N117S
MRE11Abase_D0061:g.15119A>G mutType missense
MRE11Abase_D0061:g.47557C>T protEffect R572X
MRE11Abase_D0061:g.47557C>T mutType nonsense
MRE11Abase_D0061:g.15981dupT protEffect C139X165
MRE11Abase_D0061:g.15981dupT mutType frameshift
MRE11Abase_D0061:g.23153T>C protEffect W243R
MRE11Abase_D0061:g.23153T>C mutType missense
MRE11Abase_D0061:g.18527G>C protEffect W210C
MRE11Abase_D0061:g.18527G>C mutType missense
MRE11Abase_D0061:g.35379C>A protEffect T481K
MRE11Abase_D0061:g.35379C>A mutType missense
MRE11Abase_D0061:g.57639C>T protEffect R633X
MRE11Abase_D0061:g.57639C>T mutType nonsense
MYO5Abase_D0062:g.153616C>T protEffect R778X
MYO5Abase_D0062:g.153616C>T mutType nonsense
MYO5Abase_D0062:g.178684C>T protEffect R1246C
MYO5Abase_D0062:g.178684C>T mutType missense
NCF1base_D0099:g.4249_4250delGT protEffect V25X51
NCF1base_D0099:g.4249_4250delGT mutType frameshift
NCF1base_D0099:g.9966delG protEffect 168_168delins31
NCF1base_D0099:g.9966delG mutType frameshift
NCF1base_D0099:g.6278C>T protEffect Q91X
NCF1base_D0099:g.6278C>T mutType nonsense
NCF1base_D0099:g.12263G>A protEffect G262S
NCF1base_D0099:g.12263G>A mutType missense
NCF1base_D0099:g.4299G>A protEffect R42Q
NCF1base_D0099:g.4299G>A mutType missense
NCF1base_D0099:g.6360_6361delinsAA protEffect F118X
NCF1base_D0099:g.6360_6361delinsAA mutType nonsense
NCF1base_D0099:g.6340T>A protEffect C111X
NCF1base_D0099:g.6340T>A mutType nonsense
NCF1base_D0099:g.10506G>A protEffect W193X
NCF1base_D0099:g.10506G>A mutType nonsense
NCF1base_D0099:g.5779_8636del protEffect K52X99
NCF1base_D0099:g.5779_8636del mutType deletion
NCF1base_D0099:g.10610G>C protEffect 192_228delinsG
NCF1base_D0099:g.10610G>C mutType inframe
NCF1base_D0099:g.10531C>T protEffect R202X
NCF1base_D0099:g.10531C>T mutType nonsense
NCF1base_D0099:g.12209G>A protEffect E244K
NCF1base_D0099:g.12209G>A mutType missense
NCF1base_D0099:g.10038G>A protEffect G192S
NCF1base_D0099:g.10038G>A mutType missense
NCF1base_D0099:g.14999delC protEffect L280X375
NCF1base_D0099:g.14999delC mutType frameshift
NCF1base_D0099:g.14972delG protEffect V271X375
NCF1base_D0099:g.14972delG mutType frameshift
NCF1base_D0099:g.10539G>A protEffect W204X
NCF1base_D0099:g.10539G>A mutType nonsense
NCF1base_D0099:g.10605T>G protEffect Y226X
NCF1base_D0099:g.10605T>G mutType nonsense
NCF1base_D0099:g.12213_12227del protEffect 245_250delinsG
NCF1base_D0099:g.12213_12227del mutType inframe
NCF1base_D0099:g.14998delC protEffect Y279X375
NCF1base_D0099:g.14998delC mutType frameshift
NFKBIAbase_D0063:g.1189G>T protEffect S32I
NFKBIAbase_D0063:g.1189G>T mutType missense
NFKBIAbase_D0063:g.1134G>T protEffect E14X
NFKBIAbase_D0063:g.1134G>T mutType nonsense
NHEJ1base_D0113:g.13476dupT protEffect L4X47
NHEJ1base_D0113:g.13476dupT mutType frameshift
NHEJ1base_D0113:g.13634C>G protEffect R57G
NHEJ1base_D0113:g.13634C>G mutType missense
NHEJ1base_D0113:g.14333T>C protEffect C123R
NHEJ1base_D0113:g.14333T>C mutType missense
NHEJ1base_D0113:g.13642delG protEffect K59X61
NHEJ1base_D0113:g.13642delG mutType frameshift
NHEJ1base_D0113:g.24137dupA protEffect D166X185
NHEJ1base_D0113:g.24137dupA mutType frameshift
NHEJ1base_D0113:g.24168C>T protEffect R176X
NHEJ1base_D0113:g.24168C>T mutType nonsense
NHEJ1base_D0113:g.25092C>T protEffect R178X
NHEJ1base_D0113:g.25092C>T mutType nonsense
NPbase_D0064:g.3957C>T protEffect R24X
NPbase_D0064:g.3957C>T mutType nonsense
NPbase_D0064:g.4059C>T protEffect R58X
NPbase_D0064:g.4059C>T mutType nonsense
NPbase_D0064:g.6167G>A protEffect V61X90
NPbase_D0064:g.6167G>A mutType deletion
NPbase_D0064:g.8091C>G protEffect H257D
NPbase_D0064:g.8091C>G mutType missense
NPbase_D0064:g.4068G>T protEffect G4X32
NPbase_D0064:g.4068G>T mutType deletion
NPbase_D0064:g.8023G>C protEffect R234P
NPbase_D0064:g.8023G>C mutType missense
NPbase_D0064:g.6093G>A protEffect G71E
NPbase_D0064:g.6093G>A mutType missense
NPbase_D0064:g.6146G>A protEffect E89K
NPbase_D0064:g.6146G>A mutType missense
NPbase_D0064:g.6711G>C protEffect A174P
NPbase_D0064:g.6711G>C mutType missense
NPbase_D0064:g.6427G>A protEffect A117T
NPbase_D0064:g.6427G>A mutType missense
NPbase_D0064:g.6461A>G protEffect D128G
NPbase_D0064:g.6461A>G mutType missense
NPbase_D0064:g.6463_6465delATC protEffect I129del
NPbase_D0064:g.6463_6465delATC mutType inframe
NPbase_D0064:g.6658G>C protEffect G156A
NPbase_D0064:g.6658G>C mutType missense
NPbase_D0064:g.6666T>G protEffect F159V
NPbase_D0064:g.6666T>G mutType missense
NPbase_D0064:g.6678T>C protEffect S163P
NPbase_D0064:g.6678T>C mutType missense
NPbase_D0064:g.6760G>T protEffect G190V
NPbase_D0064:g.6760G>T mutType missense
NPbase_D0064:g.6766A>G protEffect Y192C
NPbase_D0064:g.6766A>G mutType missense
NPbase_D0064:g.8052delA protEffect K244X261
NPbase_D0064:g.8052delA mutType frameshift
NPbase_D0064:g.6346G>A protEffect V96X130
NPbase_D0064:g.6346G>A mutType insertion
NRASbase_D0125:g.40791G>A protEffect G13D
NRASbase_D0125:g.40791G>A mutType missense
ORAI1base_D0114:g.1133_1134insA protEffect A88X112
ORAI1base_D0114:g.1133_1134insA mutType frameshift
ORAI1base_D0114:g.15176C>A protEffect A103E
ORAI1base_D0114:g.15176C>A mutType missense
ORAI1base_D0114:g.15449T>C protEffect L194P
ORAI1base_D0114:g.15449T>C mutType missense
PRF1base_D0067:g.3276G>A protEffect M1I
PRF1base_D0067:g.3276G>A mutType missense
PRF1base_D0067:g.3481G>T protEffect D70Y
PRF1base_D0067:g.3481G>T mutType missense
PRF1base_D0067:g.3458_3468del protEffect D62X73
PRF1base_D0067:g.3458_3468del mutType frameshift
PRF1base_D0067:g.3274A>G protEffect M1V
PRF1base_D0067:g.3274A>G mutType missense
PRF1base_D0067:g.5404G>A protEffect G317R
PRF1base_D0067:g.5404G>A mutType missense
PRF1base_D0067:g.3284G>A protEffect R4H
PRF1base_D0067:g.3284G>A mutType missense
PRF1base_D0067:g.3323delT protEffect L17X50
PRF1base_D0067:g.3323delT mutType frameshift
PRF1base_D0067:g.5897A>C protEffect Q481P
PRF1base_D0067:g.5897A>C mutType missense
PRF1base_D0067:g.3490T>C protEffect C73R
PRF1base_D0067:g.3490T>C mutType missense
PRF1base_D0067:g.3407G>A protEffect G45E
PRF1base_D0067:g.3407G>A mutType missense
PRF1base_D0067:g.5113G>A protEffect G220S
PRF1base_D0067:g.5113G>A mutType missense
PRF1base_D0067:g.3385G>A protEffect V38M
PRF1base_D0067:g.3385G>A mutType missense
PRF1base_D0067:g.3545C>T protEffect A91V
PRF1base_D0067:g.3545C>T mutType missense
PRF1base_D0067:g.3389C>A protEffect P39H
PRF1base_D0067:g.3389C>A mutType missense
PRF1base_D0067:g.3718G>A protEffect G149S
PRF1base_D0067:g.3718G>A mutType missense
PRF1base_D0067:g.3406G>A protEffect G45R
PRF1base_D0067:g.3406G>A mutType missense
PRF1base_D0067:g.3433C>T protEffect R54C
PRF1base_D0067:g.3433C>T mutType missense
PRF1base_D0067:g.3421G>A protEffect V50M
PRF1base_D0067:g.3421G>A mutType missense
PRF1base_D0067:g.5112C>A protEffect Y219X
PRF1base_D0067:g.5112C>A mutType nonsense
PRF1base_D0067:g.3463C>T protEffect Q64X
PRF1base_D0067:g.3463C>T mutType nonsense
PRF1base_D0067:g.3480delC protEffect P69X106
PRF1base_D0067:g.3480delC mutType frameshift
PRF1base_D0067:g.5577G>A protEffect W374X
PRF1base_D0067:g.5577G>A mutType nonsense
PRF1base_D0067:g.5545_5546delCT protEffect L364X456
PRF1base_D0067:g.5545_5546delCT mutType frameshift
PRF1base_D0067:g.5683C>T protEffect R410W
PRF1base_D0067:g.5683C>T mutType missense
PRF1base_D0067:g.3538C>A protEffect P89T
PRF1base_D0067:g.3538C>A mutType missense
PRF1base_D0067:g.5150G>A protEffect R232H
PRF1base_D0067:g.5150G>A mutType missense
PRF1base_D0067:g.5717T>G protEffect F421C
PRF1base_D0067:g.5717T>G mutType missense
PRF1base_D0067:g.3556T>C protEffect W95R
PRF1base_D0067:g.3556T>C mutType missense
PRF1base_D0067:g.3578G>T protEffect C102F
PRF1base_D0067:g.3578G>T mutType missense
PRF1base_D0067:g.3641G>A protEffect R123H
PRF1base_D0067:g.3641G>A mutType missense
PRF1base_D0067:g.5350C>T protEffect R299C
PRF1base_D0067:g.5350C>T mutType missense
PRF1base_D0067:g.5536A>T protEffect R361W
PRF1base_D0067:g.5536A>T mutType missense
PRF1base_D0067:g.5241_5256del protEffect A262X283
PRF1base_D0067:g.5241_5256del mutType frameshift
PRF1base_D0067:g.3722C>A protEffect S150X
PRF1base_D0067:g.3722C>A mutType nonsense
PRF1base_D0067:g.5128C>T protEffect R225W
PRF1base_D0067:g.5128C>T mutType missense
PRF1base_D0067:g.3742T>G protEffect F157V
PRF1base_D0067:g.3742T>G mutType missense
PRF1base_D0067:g.6083_6084insT protEffect L543X585
PRF1base_D0067:g.6083_6084insT mutType frameshift
PRF1base_D0067:g.3776G>A protEffect S168N
PRF1base_D0067:g.3776G>A mutType missense
PRF1base_D0067:g.5804C>T protEffect T450M
PRF1base_D0067:g.5804C>T mutType missense
PRF1base_D0067:g.3802C>T protEffect R177C
PRF1base_D0067:g.3802C>T mutType missense
PRF1base_D0067:g.5003T>G protEffect V183G
PRF1base_D0067:g.5003T>G mutType missense
PRF1base_D0067:g.5291G>A protEffect C279Y
PRF1base_D0067:g.5291G>A mutType missense
PRF1base_D0067:g.5032T>C protEffect F193L
PRF1base_D0067:g.5032T>C mutType missense
PRF1base_D0067:g.5684G>C protEffect R410P
PRF1base_D0067:g.5684G>C mutType missense
PRF1base_D0067:g.5056C>A protEffect P201T
PRF1base_D0067:g.5056C>A mutType missense
PRF1base_D0067:g.5308_5310delAAG protEffect K285del
PRF1base_D0067:g.5308_5310delAAG mutType inframe
PRF1base_D0067:g.5113G>C protEffect G220R
PRF1base_D0067:g.5113G>C mutType missense
PRF1base_D0067:g.5117C>T protEffect T221I
PRF1base_D0067:g.5117C>T mutType missense
PRF1base_D0067:g.5121C>A protEffect H222Q
PRF1base_D0067:g.5121C>A mutType missense
PRF1base_D0067:g.6091delC protEffect P546X612
PRF1base_D0067:g.6091delC mutType frameshift
PRF1base_D0067:g.5120A>G protEffect H222R
PRF1base_D0067:g.5120A>G mutType missense
PRF1base_D0067:g.5126T>A protEffect I224N
PRF1base_D0067:g.5126T>A mutType missense
PRF1base_D0067:g.5741G>A protEffect G429E
PRF1base_D0067:g.5741G>A mutType missense
PRF1base_D0067:g.5149C>T protEffect R232C
PRF1base_D0067:g.5149C>T mutType missense
PRF1base_D0067:g.5636_5637insT protEffect Q394X457
PRF1base_D0067:g.5636_5637insT mutType frameshift
PRF1base_D0067:g.5645_5646insTG protEffect C397X420
PRF1base_D0067:g.5645_5646insTG mutType frameshift
PRF1base_D0067:g.5173C>G protEffect R240G
PRF1base_D0067:g.5173C>G mutType missense
PRF1base_D0067:g.5210A>G protEffect N252S
PRF1base_D0067:g.5210A>G mutType missense
PRF1base_D0067:g.5236G>A protEffect E261K
PRF1base_D0067:g.5236G>A mutType missense
PRF1base_D0067:g.5306_5317del protEffect 284_288delinsM
PRF1base_D0067:g.5306_5317del mutType inframe
PRF1base_D0067:g.5369G>A protEffect G305D
PRF1base_D0067:g.5369G>A mutType missense
PRF1base_D0067:g.5521C>T protEffect R356W
PRF1base_D0067:g.5521C>T mutType missense
PRF1base_D0067:g.5371G>A protEffect G306S
PRF1base_D0067:g.5371G>A mutType missense
PRF1base_D0067:g.5743G>T protEffect D430Y
PRF1base_D0067:g.5743G>T mutType missense
PRF1base_D0067:g.5489C>T protEffect P345L
PRF1base_D0067:g.5489C>T mutType missense
PRF1base_D0067:g.5538delG protEffect R361X364
PRF1base_D0067:g.5538delG mutType frameshift
PRF1base_D0067:g.5946T>A protEffect C497X
PRF1base_D0067:g.5946T>A mutType nonsense
PRF1base_D0067:g.5701C>T protEffect Q416X
PRF1base_D0067:g.5701C>T mutType nonsense
PRF1base_D0067:g.5759C>T protEffect T435M
PRF1base_D0067:g.5759C>T mutType missense
PRF1base_D0067:g.5831C>T protEffect P459L
PRF1base_D0067:g.5831C>T mutType missense
PRF1base_D0067:g.5884C>G protEffect P477A
PRF1base_D0067:g.5884C>G mutType missense
PRF1base_D0067:g.5926G>A protEffect D491N
PRF1base_D0067:g.5926G>A mutType missense
PRF1base_D0067:g.6023C>A protEffect A523D
PRF1base_D0067:g.6023C>A mutType missense
PRF1base_D0067:g.6031delT protEffect L526X612
PRF1base_D0067:g.6031delT mutType frameshift
PTPRCbase_D0068:g.58675C>A protEffect H51Q
PTPRCbase_D0068:g.58675C>A mutType missense
PTPRCbase_D0068:g.58693C>G protEffect P57P
PTPRCbase_D0068:g.58693C>G mutType missense
PTPRCbase_D0068:g.71646_71651delATGAGT protEffect 361_363delinsH
PTPRCbase_D0068:g.71646_71651delATGAGT mutType inframe
PTPRCbase_D0068:g.78746G>A protEffect 482_482delins17
PTPRCbase_D0068:g.78746G>A mutType inframe
RAB27Abase_D0069:g.36721_36722delCT protEffect D17X32
RAB27Abase_D0069:g.36721_36722delCT mutType frameshift
RAB27Abase_D0069:g.36735A>G protEffect K22R
RAB27Abase_D0069:g.36735A>G mutType missense
RAB27Abase_D0069:g.36797G>A protEffect G43S
RAB27Abase_D0069:g.36797G>A mutType missense
RAB27Abase_D0069:g.36801T>C protEffect I44T
RAB27Abase_D0069:g.36801T>C mutType missense
RAB27Abase_D0069:g.36819delG protEffect R50X84
RAB27Abase_D0069:g.36819delG mutType frameshift
RAB27Abase_D0069:g.36818_36819delinsC protEffect R50X84
RAB27Abase_D0069:g.36818_36819delinsC mutType frameshift
RAB27Abase_D0069:g.41182T>G protEffect W73G
RAB27Abase_D0069:g.41182T>G mutType missense
RAB27Abase_D0069:g.41204G>C protEffect R80T
RAB27Abase_D0069:g.41204G>C mutType missense
RAB27Abase_D0069:g.65982C>T protEffect R184X
RAB27Abase_D0069:g.65982C>T mutType nonsense
RAB27Abase_D0069:g.42993delA protEffect I114X
RAB27Abase_D0069:g.42993delA mutType nonsense
RAB27Abase_D0069:g.47595C>T protEffect Q116X
RAB27Abase_D0069:g.47595C>T mutType nonsense
RAB27Abase_D0069:g.47601C>T protEffect Q118X
RAB27Abase_D0069:g.47601C>T mutType nonsense
RAB27Abase_D0069:g.47638T>C protEffect L130P
RAB27Abase_D0069:g.47638T>C mutType missense
RAB27Abase_D0069:g.47649_47650delAA protEffect K134X135
RAB27Abase_D0069:g.47649_47650delAA mutType frameshift
RAB27Abase_D0069:g.47703G>C protEffect A152P
RAB27Abase_D0069:g.47703G>C mutType missense
RAB27Abase_D0069:g.65942_65946delAAGCC protEffect I170X173
RAB27Abase_D0069:g.65942_65946delAAGCC mutType frameshift
RAB27Abase_D0069:g.65946_65950delCAAGC protEffect Q172X173
RAB27Abase_D0069:g.65946_65950delCAAGC mutType frameshift
RAB27Abase_D0069:g.66030C>T protEffect R200X
RAB27Abase_D0069:g.66030C>T mutType nonsense
RAB27Abase_D0069:g.41207A>G protEffect V52X54
RAB27Abase_D0069:g.41207A>G mutType deletion
RAC2base_D0070:g.12413G>A protEffect D57N
RAC2base_D0070:g.12413G>A mutType missense
RAG1base_RAG1_DNA:g.6546_6548delCTA protEffect 85_86delinsQ
RAG1base_RAG1_DNA:g.6546_6548delCTA mutType inframe
RAG1base_RAG1_DNA:g.8438C>T protEffect R716W
RAG1base_RAG1_DNA:g.8438C>T mutType missense
RAG1base_RAG1_DNA:g.8779_8780delinsTT protEffect R829X830
RAG1base_RAG1_DNA:g.8779_8780delinsTT mutType complex
RAG1base_HSRAG1:g.368_369delAA protEffect K86X118
RAG1base_HSRAG1:g.368_369delAA mutType frameshift
RAG1base_HSRAG1:g.1398A>G protEffect D429G
RAG1base_HSRAG1:g.1398A>G mutType missense
RAG1base_HSRAG1:g.1982C>T protEffect R624C
RAG1base_HSRAG1:g.1982C>T mutType missense
RAG1base_HSRAG1:g.2038_2039ins protEffect V643X651
RAG1base_HSRAG1:g.2038_2039ins mutType frameshift
RAG1base_HSRAG1:g.2276G>A protEffect E722K
RAG1base_HSRAG1:g.2276G>A mutType missense
RAG1base_RAG1_DNA:g.6548_6549delAA protEffect K86X118
RAG1base_RAG1_DNA:g.6548_6549delAA mutType frameshift
RAG1base_RAG1_DNA:g.7291T>A protEffect Y333X
RAG1base_RAG1_DNA:g.7291T>A mutType nonsense
RAG1base_RAG1_DNA:g.6698A>C protEffect K136Q
RAG1base_RAG1_DNA:g.6698A>C mutType missense
RAG1base_RAG1_DNA:g.6867G>A protEffect C192Y
RAG1base_RAG1_DNA:g.6867G>A mutType missense
RAG1base_RAG1_DNA:g.6716C>T protEffect R142X
RAG1base_RAG1_DNA:g.6716C>T mutType nonsense
RAG1base_RAG1_DNA:g.7479G>A protEffect R396H
RAG1base_RAG1_DNA:g.7479G>A mutType missense
RAG1base_HSRAG1:g.631delT protEffect T173X200
RAG1base_HSRAG1:g.631delT mutType frameshift
RAG1base_RAG1_DNA:g.6811delT protEffect T173X200
RAG1base_RAG1_DNA:g.6811delT mutType frameshift
RAG1base_RAG1_DNA:g.7034C>T protEffect Q248X
RAG1base_RAG1_DNA:g.7034C>T mutType nonsense
RAG1base_RAG1_DNA:g.8813C>T protEffect R841W
RAG1base_RAG1_DNA:g.8813C>T mutType missense
RAG1base_RAG1_DNA:g.7057delA protEffect A255X263
RAG1base_RAG1_DNA:g.7057delA mutType frameshift
RAG1base_RAG1_DNA:g.7503G>A protEffect R404Q
RAG1base_RAG1_DNA:g.7503G>A mutType missense
RAG1base_HSRAG1:g.887delA protEffect S259X263
RAG1base_HSRAG1:g.887delA mutType frameshift
RAG1base_RAG1_DNA:g.7232C>T protEffect R314W
RAG1base_RAG1_DNA:g.7232C>T mutType missense
RAG1base_RAG1_DNA:g.7811C>T protEffect R507W
RAG1base_RAG1_DNA:g.7811C>T mutType missense
RAG1base_RAG1_DNA:g.8502G>A protEffect R737H
RAG1base_RAG1_DNA:g.8502G>A mutType missense
RAG1base_HSRAG1:g.1095G>A protEffect C328Y
RAG1base_HSRAG1:g.1095G>A mutType missense
RAG1base_HSRAG1:g.1173delT protEffect L354X356
RAG1base_HSRAG1:g.1173delT mutType frameshift
RAG1base_HSRAG1:g.2727T>A protEffect F872X
RAG1base_HSRAG1:g.2727T>A mutType nonsense
RAG1base_HSRAG1:g.1258delA protEffect 382_382delins21
RAG1base_HSRAG1:g.1258delA mutType frameshift
RAG1base_RAG1_DNA:g.7472C>T protEffect R394W
RAG1base_RAG1_DNA:g.7472C>T mutType missense
RAG1base_HSRAG1:g.1298C>T protEffect R396C
RAG1base_HSRAG1:g.1298C>T mutType missense
RAG1base_HSRAG1:g.2766T>G protEffect L885R
RAG1base_HSRAG1:g.2766T>G mutType missense
RAG1base_HSRAG1:g.2847A>G protEffect Y912C
RAG1base_HSRAG1:g.2847A>G mutType missense
RAG1base_RAG1_DNA:g.7478C>T protEffect R396C
RAG1base_RAG1_DNA:g.7478C>T mutType missense
RAG1base_RAG1_DNA:g.8946T>G protEffect L885R
RAG1base_RAG1_DNA:g.8946T>G mutType missense
RAG1base_HSRAG1:g.1299G>A protEffect R396H
RAG1base_HSRAG1:g.1299G>A mutType missense
RAG1base_HSRAG1:g.1723_1735del protEffect I537X566
RAG1base_HSRAG1:g.1723_1735del mutType frameshift
RAG1base_HSRAG1:g.1299G>T protEffect R396L
RAG1base_HSRAG1:g.1299G>T mutType missense
RAG1base_HSRAG1:g.3036G>A protEffect R975Q
RAG1base_HSRAG1:g.3036G>A mutType missense
RAG1base_RAG1_DNA:g.7973C>T protEffect R561C
RAG1base_RAG1_DNA:g.7973C>T mutType missense
RAG1base_RAG1_DNA:g.7502C>T protEffect R404W
RAG1base_RAG1_DNA:g.7502C>T mutType missense
RAG1base_RAG1_DNA:g.8915delT protEffect S875X882
RAG1base_RAG1_DNA:g.8915delT mutType frameshift
RAG1base_HSRAG1:g.1341G>A protEffect R410Q
RAG1base_HSRAG1:g.1341G>A mutType missense
RAG1base_HSRAG1:g.2633C>T protEffect R841W
RAG1base_HSRAG1:g.2633C>T mutType missense
RAG1base_HSRAG1:g.1409G>A protEffect V433M
RAG1base_HSRAG1:g.1409G>A mutType missense
RAG1base_HSRAG1:g.1443C>T protEffect A444V
RAG1base_HSRAG1:g.1443C>T mutType missense
RAG1base_HSRAG1:g.1415A>G protEffect M435V
RAG1base_HSRAG1:g.1415A>G mutType missense
RAG1base_HSRAG1:g.1789G>T protEffect R559S
RAG1base_HSRAG1:g.1789G>T mutType missense
RAG1base_RAG1_DNA:g.7638G>A protEffect R449K
RAG1base_RAG1_DNA:g.7638G>A mutType missense
RAG1base_HSRAG1:g.1521_1522delGC protEffect C470X509
RAG1base_HSRAG1:g.1521_1522delGC mutType frameshift
RAG1base_HSRAG1:g.1533G>A protEffect R474H
RAG1base_HSRAG1:g.1533G>A mutType missense
RAG1base_HSRAG1:g.2370A>T protEffect H753L
RAG1base_HSRAG1:g.2370A>T mutType missense
RAG1base_RAG1_DNA:g.7713G>A protEffect R474H
RAG1base_RAG1_DNA:g.7713G>A mutType missense
RAG1base_RAG1_DNA:g.8481G>T protEffect C730F
RAG1base_RAG1_DNA:g.8481G>T mutType missense
RAG1base_RAG1_DNA:g.8162C>T protEffect R624C
RAG1base_RAG1_DNA:g.8162C>T mutType missense
RAG1base_RAG1_DNA:g.7712C>A protEffect R474S
RAG1base_RAG1_DNA:g.7712C>A mutType missense
RAG1base_RAG1_DNA:g.8156G>C protEffect A622P
RAG1base_RAG1_DNA:g.8156G>C mutType missense
RAG1base_HSRAG1:g.1631C>T protEffect R507W
RAG1base_HSRAG1:g.1631C>T mutType missense
RAG1base_HSRAG1:g.1793C>T protEffect R561C
RAG1base_HSRAG1:g.1793C>T mutType missense
RAG1base_HSRAG1:g.1678G>T protEffect W522C
RAG1base_HSRAG1:g.1678G>T mutType missense
RAG1base_RAG1_DNA:g.7969G>T protEffect R559S
RAG1base_RAG1_DNA:g.7969G>T mutType missense
RAG1base_RAG1_DNA:g.8981C>T protEffect R897X
RAG1base_RAG1_DNA:g.8981C>T mutType nonsense
RAG1base_HSRAG1:g.1794G>A protEffect R561H
RAG1base_HSRAG1:g.1794G>A mutType missense
RAG1base_HSRAG1:g.2322G>A protEffect R737H
RAG1base_HSRAG1:g.2322G>A mutType missense
RAG1base_RAG1_DNA:g.7974G>A protEffect R561H
RAG1base_RAG1_DNA:g.7974G>A mutType missense
RAG1base_RAG1_DNA:g.7986C>A protEffect A565D
RAG1base_RAG1_DNA:g.7986C>A mutType missense
RAG1base_HSRAG1:g.1879C>G protEffect Y589X
RAG1base_HSRAG1:g.1879C>G mutType nonsense
RAG1base_RAG1_DNA:g.8059C>G protEffect Y589X
RAG1base_RAG1_DNA:g.8059C>G mutType nonsense
RAG1base_RAG1_DNA:g.8098T>G protEffect C602W
RAG1base_RAG1_DNA:g.8098T>G mutType missense
RAG1base_HSRAG1:g.1983G>A protEffect R624H
RAG1base_HSRAG1:g.1983G>A mutType missense
RAG1base_HSRAG1:g.2801C>T protEffect R897X
RAG1base_HSRAG1:g.2801C>T mutType nonsense
RAG1base_RAG1_DNA:g.8163G>A protEffect R624H
RAG1base_RAG1_DNA:g.8163G>A mutType missense
RAG1base_RAG1_DNA:g.9266A>G protEffect K992E
RAG1base_RAG1_DNA:g.9266A>G mutType missense
RAG1base_RAG1_DNA:g.8239delT protEffect P649X671
RAG1base_RAG1_DNA:g.8239delT mutType frameshift
RAG1base_RAG1_DNA:g.8294delC protEffect H668X671
RAG1base_RAG1_DNA:g.8294delC mutType frameshift
RAG1base_HSRAG1:g.2118A>G protEffect E669G
RAG1base_HSRAG1:g.2118A>G mutType missense
RAG1base_HSRAG1:g.2812C>A protEffect C900X
RAG1base_HSRAG1:g.2812C>A mutType nonsense
RAG1base_HSRAG1:g.2182_2189delAATGCTTG protEffect L690X708
RAG1base_HSRAG1:g.2182_2189delAATGCTTG mutType frameshift
RAG1base_RAG1_DNA:g.8418G>A protEffect G709D
RAG1base_RAG1_DNA:g.8418G>A mutType missense
RAG1base_HSRAG1:g.2432G>T protEffect E774X
RAG1base_HSRAG1:g.2432G>T mutType nonsense
RAG1base_RAG1_DNA:g.8486C>T protEffect L732F
RAG1base_RAG1_DNA:g.8486C>T mutType missense
RAG1base_RAG1_DNA:g.8619G>A protEffect R776Q
RAG1base_RAG1_DNA:g.8619G>A mutType missense
RAG1base_RAG1_DNA:g.9227_9229delGCC protEffect A979del
RAG1base_RAG1_DNA:g.9227_9229delGCC mutType inframe
RAG1base_RAG1_DNA:g.8624C>G protEffect R778G
RAG1base_RAG1_DNA:g.8624C>G mutType missense
RAG1base_RAG1_DNA:g.9267A>G protEffect K992R
RAG1base_RAG1_DNA:g.9267A>G mutType missense
RAG1base_RAG1_DNA:g.8625G>A protEffect R778Q
RAG1base_RAG1_DNA:g.8625G>A mutType missense
RAG1base_RAG1_DNA:g.9215C>T protEffect R975W
RAG1base_RAG1_DNA:g.9215C>T mutType missense
RAG1base_RAG1_DNA:g.8624C>T protEffect R778W
RAG1base_RAG1_DNA:g.8624C>T mutType missense
RAG1base_HSRAG1:g.2676A>T protEffect N855I
RAG1base_HSRAG1:g.2676A>T mutType missense
RAG1base_RAG1_DNA:g.8978T>C protEffect W896R
RAG1base_RAG1_DNA:g.8978T>C mutType missense
RAG1base_HSRAG1:g.2926T>G protEffect Y938X
RAG1base_HSRAG1:g.2926T>G mutType nonsense
RAG1base_RAG1_DNA:g.9159T>C protEffect I956T
RAG1base_RAG1_DNA:g.9159T>C mutType missense
RAG1base_HSRAG1:g.2988G>A protEffect W959X
RAG1base_HSRAG1:g.2988G>A mutType nonsense
RAG1base_RAG1_DNA:g.9210G>A protEffect R973H
RAG1base_RAG1_DNA:g.9210G>A mutType missense
RAG1base_RAG1_DNA:g.9234A>C protEffect Q981P
RAG1base_RAG1_DNA:g.9234A>C mutType missense
RAG2base_RAG2_DNA:g.5114C>T protEffect Q16X
RAG2base_RAG2_DNA:g.5114C>T mutType nonsense
RAG2base_HSRAG2X:g.1305G>T protEffect G35V
RAG2base_HSRAG2X:g.1305G>T mutType missense
RAG2base_RAG2_DNA:g.5172G>T protEffect G35V
RAG2base_RAG2_DNA:g.5172G>T mutType missense
RAG2base_HSRAG2X:g.1316A>G protEffect R39G
RAG2base_HSRAG2X:g.1316A>G mutType missense
RAG2base_HSRAG2X:g.1887G>A protEffect R229Q
RAG2base_HSRAG2X:g.1887G>A mutType missense
RAG2base_RAG2_DNA:g.5183A>G protEffect R39G
RAG2base_RAG2_DNA:g.5183A>G mutType missense
RAG2base_RAG2_DNA:g.5754G>A protEffect R229Q
RAG2base_RAG2_DNA:g.5754G>A mutType missense
RAG2base_HSRAG2X:g.1324C>G protEffect C41W
RAG2base_HSRAG2X:g.1324C>G mutType missense
RAG2base_HSRAG2X:g.2055T>G protEffect M285R
RAG2base_HSRAG2X:g.2055T>G mutType missense
RAG2base_RAG2_DNA:g.5298C>A protEffect T77N
RAG2base_RAG2_DNA:g.5298C>A mutType missense
RAG2base_RAG2_DNA:g.6420G>C protEffect G451A
RAG2base_RAG2_DNA:g.6420G>C mutType missense
RAG2base_HSRAG2X:g.1484G>A protEffect G95R
RAG2base_HSRAG2X:g.1484G>A mutType missense
RAG2base_HSRAG2X:g.2558T>A protEffect W453R
RAG2base_HSRAG2X:g.2558T>A mutType missense
RAG2base_RAG2_DNA:g.5351G>A protEffect G95R
RAG2base_RAG2_DNA:g.5351G>A mutType missense
RAG2base_RAG2_DNA:g.5753C>T protEffect R229W
RAG2base_RAG2_DNA:g.5753C>T mutType missense
RAG2base_HSRAG2X:g.1664_1665insTGTTC protEffect L155X177
RAG2base_HSRAG2X:g.1664_1665insTGTTC mutType frameshift
RAG2base_HSRAG2X:g.1643C>T protEffect R148X
RAG2base_HSRAG2X:g.1643C>T mutType nonsense
RAG2base_HSRAG2X:g.1818T>G protEffect F206C
RAG2base_HSRAG2X:g.1818T>G mutType missense
RAG2base_RAG2_DNA:g.5547C>T protEffect S160L
RAG2base_RAG2_DNA:g.5547C>T mutType missense
RAG2base_RAG2_DNA:g.6572A>G protEffect M502V
RAG2base_RAG2_DNA:g.6572A>G mutType missense
RAG2base_RAG2_DNA:g.5649C>A protEffect S194X
RAG2base_RAG2_DNA:g.5649C>A mutType nonsense
RAG2base_RAG2_DNA:g.5651T>G protEffect Y195D
RAG2base_RAG2_DNA:g.5651T>G mutType missense
RAG2base_RAG2_DNA:g.5712C>T protEffect T215I
RAG2base_RAG2_DNA:g.5712C>T mutType missense
RAG2base_HSRAG2X:g.1886C>T protEffect R229W
RAG2base_HSRAG2X:g.1886C>T mutType missense
RAG2base_RAG2_DNA:g.5780delG protEffect V238X247
RAG2base_RAG2_DNA:g.5780delG mutType frameshift
RAG2base_RAG2_DNA:g.6388A>C protEffect K440N
RAG2base_RAG2_DNA:g.6388A>C mutType missense
RAG2base_RAG2_DNA:g.5826C>G protEffect P253R
RAG2base_RAG2_DNA:g.5826C>G mutType missense
RAG2base_HSRAG2X:g.2018_2020delATT protEffect I273del
RAG2base_HSRAG2X:g.2018_2020delATT mutType inframe
RAG2base_HSRAG2X:g.2122G>A protEffect W307X
RAG2base_HSRAG2X:g.2122G>A mutType nonsense
RAG2base_RAG2_DNA:g.6287G>T protEffect E407X
RAG2base_RAG2_DNA:g.6287G>T mutType nonsense
RAG2base_RAG2_DNA:g.6315G>T protEffect W416L
RAG2base_RAG2_DNA:g.6315G>T mutType missense
RAG2base_RAG2_DNA:g.6425T>A protEffect W453R
RAG2base_RAG2_DNA:g.6425T>A mutType missense
RAG2base_RAG2_DNA:g.6434G>A protEffect A456T
RAG2base_RAG2_DNA:g.6434G>A mutType missense
RAG2base_HSRAG2X:g.2622A>G protEffect N474S
RAG2base_HSRAG2X:g.2622A>G mutType missense
RAG2base_HSRAG2X:g.2634G>A protEffect C478Y
RAG2base_HSRAG2X:g.2634G>A mutType missense
RAG2base_RAG2_DNA:g.6510A>C protEffect H481P
RAG2base_RAG2_DNA:g.6510A>C mutType missense
RFX5base_D0073:g.32168G>A protEffect R149Q
RFX5base_D0073:g.32168G>A mutType missense
RFX5base_D0073:g.33455C>T protEffect R294X
RFX5base_D0073:g.33455C>T mutType nonsense
RFX5base_D0073:g.33536C>T protEffect Q321X
RFX5base_D0073:g.33536C>T mutType nonsense
RFX5base_D0073:g.30412G>A protEffect G36X43
RFX5base_D0073:g.30412G>A mutType frameshift
RFX5base_D0073:g.31423G>A protEffect Q51X83
RFX5base_D0073:g.31423G>A mutType frameshift
RFX5base_D0073:g.31764G>A protEffect S78X85
RFX5base_D0073:g.31764G>A mutType frameshift
RFXANKbase_D0074:g.5932G>T protEffect E102X
RFXANKbase_D0074:g.5932G>T mutType nonsense
RFXANKbase_D0074:g.6259A>T protEffect D121V
RFXANKbase_D0074:g.6259A>T mutType missense
RFXANKbase_D0074:g.6280delT protEffect L128X203
RFXANKbase_D0074:g.6280delT mutType frameshift
RFXANKbase_D0074:g.6820G>T protEffect G147_W188del
RFXANKbase_D0074:g.6820G>T mutType inframe
RFXANKbase_D0074:g.6851C>T protEffect R157X
RFXANKbase_D0074:g.6851C>T mutType nonsense
RFXANKbase_D0074:g.7390T>C protEffect L195P
RFXANKbase_D0074:g.7390T>C mutType missense
RFXANKbase_D0074:g.7870C>T protEffect R212X
RFXANKbase_D0074:g.7870C>T mutType nonsense
RFXANKbase_D0074:g.5761G>C protEffect 63_91delinsA
RFXANKbase_D0074:g.5761G>C mutType inframe
RFXANKbase_D0074:g.6210_6235del protEffect S91X124
RFXANKbase_D0074:g.6210_6235del mutType deletion
RFXANKbase_D0074:g.6313_6370del protEffect S91X124
RFXANKbase_D0074:g.6313_6370del mutType deletion
RFXAPbase_D0075:g.52509_52510insGCGGGGC protEffect P12X74
RFXAPbase_D0075:g.52509_52510insGCGGGGC mutType frameshift
RFXAPbase_D0075:g.52638C>T protEffect Q55X
RFXAPbase_D0075:g.52638C>T mutType nonsense
RFXAPbase_D0075:g.52843delG protEffect S123X137
RFXAPbase_D0075:g.52843delG mutType frameshift
SBDSbase_D0076:g.1240G>A protEffect R19Q
SBDSbase_D0076:g.1240G>A mutType missense
SBDSbase_D0076:g.2392T>C protEffect C84X87
SBDSbase_D0076:g.2392T>C mutType deletion
SBDSbase_D0076:g.1263T>C protEffect F27L
SBDSbase_D0076:g.1263T>C mutType missense
SBDSbase_D0076:g.2315_2316delinsCT protEffect S61X62
SBDSbase_D0076:g.2315_2316delinsCT mutType complex
SBDSbase_D0076:g.1277C>G protEffect C31W
SBDSbase_D0076:g.1277C>G mutType missense
SBDSbase_D0076:g.1279A>G protEffect Y32C
SBDSbase_D0076:g.1279A>G mutType missense
SBDSbase_D0076:g.1281A>G protEffect K33E
SBDSbase_D0076:g.1281A>G mutType missense
SBDSbase_D0076:g.1285A>T protEffect N34I
SBDSbase_D0076:g.1285A>T mutType missense
SBDSbase_D0076:g.1285A>G protEffect N34S
SBDSbase_D0076:g.1285A>G mutType missense
SBDSbase_D0076:g.1284dupA protEffect N34X49
SBDSbase_D0076:g.1284dupA mutType frameshift
SBDSbase_D0076:g.1291delT protEffect V36X58
SBDSbase_D0076:g.1291delT mutType frameshift
SBDSbase_D0076:g.1303delG protEffect R40X58
SBDSbase_D0076:g.1303delG mutType frameshift
SBDSbase_D0076:g.1307delC protEffect S41X58
SBDSbase_D0076:g.1307delC mutType frameshift
SBDSbase_D0076:g.2263A>G protEffect E44G
SBDSbase_D0076:g.2263A>G mutType missense
SBDSbase_D0076:g.3280A>C protEffect K118N
SBDSbase_D0076:g.3280A>C mutType missense
SBDSbase_D0076:g.2344T>C protEffect L71P
SBDSbase_D0076:g.2344T>C mutType missense
SBDSbase_D0076:g.2382T>C protEffect C84R
SBDSbase_D0076:g.2382T>C mutType missense
SBDSbase_D0076:g.3186T>C protEffect I87T
SBDSbase_D0076:g.3186T>C mutType missense
SBDSbase_D0076:g.3205_3210delTCAAGT protEffect 93_95delinsV
SBDSbase_D0076:g.3205_3210delTCAAGT mutType inframe
SBDSbase_D0076:g.3218_3221delAAAG protEffect K98X119
SBDSbase_D0076:g.3218_3221delAAAG mutType frameshift
SBDSbase_D0076:g.3233_3234delCA protEffect Q103X108
SBDSbase_D0076:g.3233_3234delCA mutType frameshift
SBDSbase_D0076:g.3288A>C protEffect N121T
SBDSbase_D0076:g.3288A>C mutType missense
SBDSbase_D0076:g.5364C>T protEffect R175W
SBDSbase_D0076:g.5364C>T mutType missense
SBDSbase_D0076:g.3354C>T protEffect S143L
SBDSbase_D0076:g.3354C>T mutType missense
SBDSbase_D0076:g.3369A>G protEffect K148R
SBDSbase_D0076:g.3369A>G mutType missense
SBDSbase_D0076:g.3354C>G protEffect S143W
SBDSbase_D0076:g.3354C>G mutType missense
SBDSbase_D0076:g.3384A>G protEffect Q153R
SBDSbase_D0076:g.3384A>G mutType missense
SBDSbase_D0076:g.5346C>T protEffect R169C
SBDSbase_D0076:g.5346C>T mutType missense
SBDSbase_D0076:g.5347G>T protEffect R169L
SBDSbase_D0076:g.5347G>T mutType missense
SBDSbase_D0076:g.8130C>T protEffect R218X
SBDSbase_D0076:g.8130C>T mutType nonsense
SERPING1base_D0077:g.5656_5657delinsAA protEffect F225X
SERPING1base_D0077:g.5656_5657delinsAA mutType nonsense
SERPING1base_D0077:g.1769A>G protEffect M1V
SERPING1base_D0077:g.1769A>G mutType missense
SERPING1base_D0077:g.1778_1779dupGGCCTCCA protEffect R4X8
SERPING1base_D0077:g.1778_1779dupGGCCTCCA mutType frameshift
SERPING1base_D0077:g.3391C>G protEffect S22X
SERPING1base_D0077:g.3391C>G mutType nonsense
SERPING1base_D0077:g.3393_3463del protEffect 23_46delins11
SERPING1base_D0077:g.3393_3463del mutType frameshift
SERPING1base_D0077:g.3420C>T protEffect Q32X
SERPING1base_D0077:g.3420C>T mutType nonsense
SERPING1base_D0077:g.3432_3433delAG protEffect 36_36delins21
SERPING1base_D0077:g.3432_3433delAG mutType frameshift
SERPING1base_D0077:g.3446_3447delAG protEffect R40X56
SERPING1base_D0077:g.3446_3447delAG mutType frameshift
SERPING1base_D0077:g.3446delA protEffect R40X78
SERPING1base_D0077:g.3446delA mutType frameshift
SERPING1base_D0077:g.3486delC protEffect L54X78
SERPING1base_D0077:g.3486delC mutType frameshift
SERPING1base_D0077:g.3490delT protEffect F55X78
SERPING1base_D0077:g.3490delT mutType frameshift
SERPING1base_D0077:g.3513delT protEffect S63X78
SERPING1base_D0077:g.3513delT mutType frameshift
SERPING1base_D0077:g.3535C>G protEffect S70X
SERPING1base_D0077:g.3535C>G mutType nonsense
SERPING1base_D0077:g.3596delC protEffect P90X147
SERPING1base_D0077:g.3596delC mutType frameshift
SERPING1base_D0077:g.3617_3621delACCCA protEffect Q97X130
SERPING1base_D0077:g.3617_3621delACCCA mutType frameshift
SERPING1base_D0077:g.3640_3643delCAAC protEffect P105X146
SERPING1base_D0077:g.3640_3643delCAAC mutType frameshift
SERPING1base_D0077:g.3649dupA protEffect Q108X132
SERPING1base_D0077:g.3649dupA mutType frameshift
SERPING1base_D0077:g.3672C>T protEffect Q116X
SERPING1base_D0077:g.3672C>T mutType nonsense
SERPING1base_D0077:g.3715G>A protEffect C130Y
SERPING1base_D0077:g.3715G>A mutType missense
SERPING1base_D0077:g.3716_3717delCT protEffect C130X131
SERPING1base_D0077:g.3716_3717delCT mutType frameshift
SERPING1base_D0077:g.3756delG protEffect D144X147
SERPING1base_D0077:g.3756delG mutType frameshift
SERPING1base_D0077:g.3761_3802del protEffect 145_159delinsA
SERPING1base_D0077:g.3761_3802del mutType inframe
SERPING1base_D0077:g.3788C>G protEffect Y154X
SERPING1base_D0077:g.3788C>G mutType nonsense
SERPING1base_D0077:g.3832T>C protEffect F169S
SERPING1base_D0077:g.3832T>C mutType missense
SERPING1base_D0077:g.3834T>C protEffect S170P
SERPING1base_D0077:g.3834T>C mutType missense
SERPING1base_D0077:g.3838C>T protEffect P171L
SERPING1base_D0077:g.3838C>T mutType missense
SERPING1base_D0077:g.5533G>A protEffect G184E
SERPING1base_D0077:g.5533G>A mutType missense
SERPING1base_D0077:g.3876G>A protEffect G184R
SERPING1base_D0077:g.3876G>A mutType missense
SERPING1base_D0077:g.3876G>C protEffect G184R
SERPING1base_D0077:g.3876G>C mutType missense
SERPING1base_D0077:g.5553delA protEffect T191X210
SERPING1base_D0077:g.5553delA mutType frameshift
SERPING1base_D0077:g.5553dupA protEffect T191X256
SERPING1base_D0077:g.5553dupA mutType frameshift
SERPING1base_D0077:g.5560T>C protEffect L193P
SERPING1base_D0077:g.5560T>C mutType missense
SERPING1base_D0077:g.5577T>A protEffect Y199N
SERPING1base_D0077:g.5577T>A mutType missense
SERPING1base_D0077:g.5582delC protEffect 200_200delins11
SERPING1base_D0077:g.5582delC mutType frameshift
SERPING1base_D0077:g.5596G>A protEffect C205Y
SERPING1base_D0077:g.5596G>A mutType missense
SERPING1base_D0077:g.5604delC protEffect Q208X210
SERPING1base_D0077:g.5604delC mutType frameshift
SERPING1base_D0077:g.5610delC protEffect L210X
SERPING1base_D0077:g.5610delC mutType nonsense
SERPING1base_D0077:g.5642dupA protEffect V221X256
SERPING1base_D0077:g.5642dupA mutType frameshift
SERPING1base_D0077:g.5649C>T protEffect Q223X
SERPING1base_D0077:g.5649C>T mutType nonsense
SERPING1base_D0077:g.5653T>G protEffect I224S
SERPING1base_D0077:g.5653T>G mutType missense
SERPING1base_D0077:g.9684_9685delinsAA protEffect V288E
SERPING1base_D0077:g.9684_9685delinsAA mutType missense
SERPING1base_D0077:g.9528T>C protEffect F236S
SERPING1base_D0077:g.9528T>C mutType missense
SERPING1base_D0077:g.9552_9553delinsT protEffect Y244X251
SERPING1base_D0077:g.9552_9553delinsT mutType frameshift
SERPING1base_D0077:g.9564C>G protEffect P248R
SERPING1base_D0077:g.9564C>G mutType missense
SERPING1base_D0077:g.9565delC protEffect P248X251
SERPING1base_D0077:g.9565delC mutType frameshift
SERPING1base_D0077:g.9572delC protEffect L251X
SERPING1base_D0077:g.9572delC mutType nonsense
SERPING1base_D0077:g.1142C>G mutType upstream
SERPING1base_D0077:g.9637_9639delCAA protEffect 272_273delinsK
SERPING1base_D0077:g.9637_9639delCAA mutType inframe
SERPING1base_D0077:g.9599G>T protEffect E260X
SERPING1base_D0077:g.9599G>T mutType nonsense
SERPING1base_D0077:g.9616G>A protEffect W265X
SERPING1base_D0077:g.9616G>A mutType nonsense
SERPING1base_D0077:g.9630_9631dupAACAC protEffect 270_270delins11
SERPING1base_D0077:g.9630_9631dupAACAC mutType frameshift
SERPING1base_D0077:g.9638_9640delAAG protEffect K273del
SERPING1base_D0077:g.9638_9640delAAG mutType inframe
SERPING1base_D0077:g.9639_9641delAGA protEffect 273_274delinsI
SERPING1base_D0077:g.9639_9641delAGA mutType inframe
SERPING1base_D0077:g.9641A>G protEffect I274V
SERPING1base_D0077:g.9641A>G mutType missense
SERPING1base_D0077:g.9675_9676delCC protEffect T285X303
SERPING1base_D0077:g.9675_9676delCC mutType frameshift
SERPING1base_D0077:g.9699T>C protEffect I293T
SERPING1base_D0077:g.9699T>C mutType missense
SERPING1base_D0077:g.9699_9702delTCTA protEffect I293X294
SERPING1base_D0077:g.9699_9702delTCTA mutType frameshift
SERPING1base_D0077:g.9705T>G protEffect L295R
SERPING1base_D0077:g.9705T>G mutType missense
SERPING1base_D0077:g.9919_9921delACA protEffect T302del
SERPING1base_D0077:g.9919_9921delACA mutType inframe
SERPING1base_D0077:g.9923T>G protEffect F303C
SERPING1base_D0077:g.9923T>G mutType missense
SERPING1base_D0077:g.9989T>C protEffect M325T
SERPING1base_D0077:g.9989T>C mutType missense
SERPING1base_D0077:g.9996_9997delCA protEffect S327X336
SERPING1base_D0077:g.9996_9997delCA mutType frameshift
SERPING1base_D0077:g.10005C>G protEffect Y330X
SERPING1base_D0077:g.10005C>G mutType nonsense
SERPING1base_D0077:g.15213_15432del protEffect V344X357
SERPING1base_D0077:g.15213_15432del mutType deletion
SERPING1base_D0077:g.15216G>A protEffect G345R
SERPING1base_D0077:g.15216G>A mutType missense
SERPING1base_D0077:g.15219C>T protEffect Q346X
SERPING1base_D0077:g.15219C>T mutType nonsense
SERPING1base_D0077:g.15252delA protEffect I357X363
SERPING1base_D0077:g.15252delA mutType frameshift
SERPING1base_D0077:g.15264C>T protEffect Q361X
SERPING1base_D0077:g.15264C>T mutType nonsense
SERPING1base_D0077:g.15289delA protEffect D369X396
SERPING1base_D0077:g.15289delA mutType frameshift
SERPING1base_D0077:g.15297C>T protEffect Q372X
SERPING1base_D0077:g.15297C>T mutType nonsense
SERPING1base_D0077:g.15319T>C protEffect F379S
SERPING1base_D0077:g.15319T>C mutType missense
SERPING1base_D0077:g.15363A>C protEffect T394P
SERPING1base_D0077:g.15363A>C mutType missense
SERPING1base_D0077:g.15379C>T protEffect P399L
SERPING1base_D0077:g.15379C>T mutType missense
SERPING1base_D0077:g.15379C>G protEffect P399R
SERPING1base_D0077:g.15379C>G mutType missense
SERPING1base_D0077:g.15386dupC protEffect K402X424
SERPING1base_D0077:g.15386dupC mutType frameshift
SERPING1base_D0077:g.15406A>T protEffect D408V
SERPING1base_D0077:g.15406A>T mutType missense
SERPING1base_D0077:g.15409T>C protEffect M409T
SERPING1base_D0077:g.15409T>C mutType missense
SERPING1base_D0077:g.15410delG protEffect M409X430
SERPING1base_D0077:g.15410delG mutType frameshift
SERPING1base_D0077:g.15415C>A protEffect S411X
SERPING1base_D0077:g.15415C>A mutType nonsense
SERPING1base_D0077:g.17838delT protEffect S422X430
SERPING1base_D0077:g.17838delT mutType frameshift
SERPING1base_D0077:g.17842dupA protEffect Y423X
SERPING1base_D0077:g.17842dupA mutType nonsense
SERPING1base_D0077:g.17858_17859delTG protEffect C428X471
SERPING1base_D0077:g.17858_17859delTG mutType frameshift
SERPING1base_D0077:g.17880delC protEffect L436X449
SERPING1base_D0077:g.17880delC mutType frameshift
SERPING1base_D0077:g.17890delC protEffect 439_439delins11
SERPING1base_D0077:g.17890delC mutType frameshift
SERPING1base_D0077:g.17889delT protEffect 439_439delins11
SERPING1base_D0077:g.17889delT mutType frameshift
SERPING1base_D0077:g.17902A>G protEffect H443R
SERPING1base_D0077:g.17902A>G mutType missense
SERPING1base_D0077:g.17917_17919delinsT protEffect E448X471
SERPING1base_D0077:g.17917_17919delinsT mutType frameshift
SERPING1base_D0077:g.17925_17926delGA protEffect 451_451delins21
SERPING1base_D0077:g.17925_17926delGA mutType frameshift
SERPING1base_D0077:g.17924dupA protEffect E451X472
SERPING1base_D0077:g.17924dupA mutType frameshift
SERPING1base_D0077:g.17931_17932insTGT protEffect 453_453delinsVW
SERPING1base_D0077:g.17931_17932insTGT mutType inframe
SERPING1base_D0077:g.17935T>A protEffect V454E
SERPING1base_D0077:g.17935T>A mutType missense
SERPING1base_D0077:g.17934_17967del protEffect V454X535
SERPING1base_D0077:g.17934_17967del mutType frameshift
SERPING1base_D0077:g.17941C>A protEffect A456E
SERPING1base_D0077:g.17941C>A mutType missense
SERPING1base_D0077:g.17946G>A protEffect A458T
SERPING1base_D0077:g.17946G>A mutType missense
SERPING1base_D0077:g.17952T>C protEffect S460P
SERPING1base_D0077:g.17952T>C mutType missense
SERPING1base_D0077:g.17956_17957dup protEffect A461X555
SERPING1base_D0077:g.17956_17957dup mutType frameshift
SERPING1base_D0077:g.17959T>G protEffect I462S
SERPING1base_D0077:g.17959T>G mutType missense
SERPING1base_D0077:g.17957dupC protEffect 462_462delins11
SERPING1base_D0077:g.17957dupC mutType frameshift
SERPING1base_D0077:g.17970C>T protEffect R466C
SERPING1base_D0077:g.17970C>T mutType missense
SERPING1base_D0077:g.17971G>A protEffect R466H
SERPING1base_D0077:g.17971G>A mutType missense
SERPING1base_D0077:g.17971G>T protEffect R466L
SERPING1base_D0077:g.17971G>T mutType missense
SERPING1base_D0077:g.17971G>C protEffect R466P
SERPING1base_D0077:g.17971G>C mutType missense
SERPING1base_D0077:g.17970C>A protEffect R466S
SERPING1base_D0077:g.17970C>A mutType missense
SERPING1base_D0077:g.17973A>C protEffect T467P
SERPING1base_D0077:g.17973A>C mutType missense
SERPING1base_D0077:g.17972_17973dup protEffect T467X553
SERPING1base_D0077:g.17972_17973dup mutType frameshift
SERPING1base_D0077:g.17992T>A protEffect V473E
SERPING1base_D0077:g.17992T>A mutType missense
SERPING1base_D0077:g.17992T>G protEffect V473G
SERPING1base_D0077:g.17992T>G mutType missense
SERPING1base_D0077:g.17991G>A protEffect V473M
SERPING1base_D0077:g.17991G>A mutType missense
SERPING1base_D0077:g.17994C>G protEffect Q474E
SERPING1base_D0077:g.17994C>G mutType missense
SERPING1base_D0077:g.18016T>G protEffect L481R
SERPING1base_D0077:g.18016T>G mutType missense
SERPING1base_D0077:g.18004T>C protEffect F477S
SERPING1base_D0077:g.18004T>C mutType missense
SERPING1base_D0077:g.18009T>C protEffect F479L
SERPING1base_D0077:g.18009T>C mutType missense
SERPING1base_D0077:g.18016T>C protEffect L481P
SERPING1base_D0077:g.18016T>C mutType missense
SERPING1base_D0077:g.18020G>A protEffect W482X
SERPING1base_D0077:g.18020G>A mutType nonsense
SERPING1base_D0077:g.18019G>A protEffect W482X
SERPING1base_D0077:g.18019G>A mutType nonsense
SERPING1base_D0077:g.18024C>T protEffect Q484X
SERPING1base_D0077:g.18024C>T mutType nonsense
SERPING1base_D0077:g.18040C>G protEffect P489R
SERPING1base_D0077:g.18040C>G mutType missense
SERPING1base_D0077:g.18043T>A protEffect V490D
SERPING1base_D0077:g.18043T>A mutType missense
SERPING1base_D0077:g.18049T>A protEffect M492K
SERPING1base_D0077:g.18049T>A mutType missense
SERPING1base_D0077:g.18052G>A protEffect G493E
SERPING1base_D0077:g.18052G>A mutType missense
SERPING1base_D0077:g.18051G>A protEffect G493R
SERPING1base_D0077:g.18051G>A mutType missense
SERPING1base_D0077:g.18054C>T protEffect R494X
SERPING1base_D0077:g.18054C>T mutType nonsense
SERPING1base_D0077:g.18067C>G protEffect P498R
SERPING1base_D0077:g.18067C>G mutType missense
SERPING1base_D0077:g.18066C>T protEffect P498S
SERPING1base_D0077:g.18066C>T mutType missense
SERPING1base_D0077:g.18075T>A protEffect X501X586
SERPING1base_D0077:g.18075T>A mutType terminator
SERPING1base_D0077:g.5531delA protEffect 184_229delinsD
SERPING1base_D0077:g.5531delA mutType inframe
SERPING1base_D0077:g.9504C>G protEffect 229_297delinsA
SERPING1base_D0077:g.9504C>G mutType inframe
SERPING1base_D0077:g.9712T>C protEffect 229_297delinsA
SERPING1base_D0077:g.9712T>C mutType inframe
SERPING1base_D0077:g.9703C>G protEffect 229_297delinsA
SERPING1base_D0077:g.9703C>G mutType inframe
SERPING1base_D0077:g.1080C>T mutType upstream
SERPING1base_D0077:g.15434delT protEffect V344X357
SERPING1base_D0077:g.15434delT mutType deletion
SERPING1base_D0077:g.4375_7263del protEffect 184_229delinsD
SERPING1base_D0077:g.4375_7263del mutType inframe
SH2D1Abase_D0078:g.39340A>G protEffect Y7C
SH2D1Abase_D0078:g.39340A>G mutType missense
SH2D1Abase_D0078:g.39342C>G protEffect H8D
SH2D1Abase_D0078:g.39342C>G mutType missense
SH2D1Abase_D0078:g.39343A>C protEffect H8P
SH2D1Abase_D0078:g.39343A>C mutType missense
SH2D1Abase_D0078:g.39367G>A protEffect G16D
SH2D1Abase_D0078:g.39367G>A mutType missense
SH2D1Abase_D0078:g.39399G>A protEffect G27S
SH2D1Abase_D0078:g.39399G>A mutType missense
SH2D1Abase_D0078:g.39404C>G protEffect S28R
SH2D1Abase_D0078:g.39404C>G mutType missense
SH2D1Abase_D0078:g.39412T>C protEffect L31P
SH2D1Abase_D0078:g.39412T>C mutType missense
SH2D1Abase_D0078:g.39415G>C protEffect R32T
SH2D1Abase_D0078:g.39415G>C mutType missense
SH2D1Abase_D0078:g.39417G>T protEffect D33Y
SH2D1Abase_D0078:g.39417G>T mutType missense
SH2D1Abase_D0078:g.39420A>G protEffect S34G
SH2D1Abase_D0078:g.39420A>G mutType missense
SH2D1Abase_D0078:g.39422C>A protEffect S34R
SH2D1Abase_D0078:g.39422C>A mutType missense
SH2D1Abase_D0078:g.39446C>G protEffect C42W
SH2D1Abase_D0078:g.39446C>G mutType missense
SH2D1Abase_D0078:g.58439_58502del protEffect L46X59
SH2D1Abase_D0078:g.58439_58502del mutType frameshift
SH2D1Abase_D0078:g.58441_58487del protEffect Y47X51
SH2D1Abase_D0078:g.58441_58487del mutType frameshift
SH2D1Abase_D0078:g.58447G>T protEffect G49V
SH2D1Abase_D0078:g.58447G>T mutType missense
SH2D1Abase_D0078:g.58447dupG protEffect G49X67
SH2D1Abase_D0078:g.58447dupG mutType frameshift
SH2D1Abase_D0078:g.58459C>G protEffect T53R
SH2D1Abase_D0078:g.58459C>G mutType missense
SH2D1Abase_D0078:g.58462A>G protEffect Y54C
SH2D1Abase_D0078:g.58462A>G mutType missense
SH2D1Abase_D0078:g.58465G>T protEffect R55L
SH2D1Abase_D0078:g.58465G>T mutType missense
SH2D1Abase_D0078:g.58464C>T protEffect R55X
SH2D1Abase_D0078:g.58464C>T mutType nonsense
SH2D1Abase_D0078:g.58473C>T protEffect Q58X
SH2D1Abase_D0078:g.58473C>T mutType nonsense
SH2D1Abase_D0078:g.58492G>A protEffect W64X
SH2D1Abase_D0078:g.58492G>A mutType nonsense
SH2D1Abase_D0078:g.58502G>T protEffect E67D
SH2D1Abase_D0078:g.58502G>T mutType missense
SH2D1Abase_D0078:g.58502G>A protEffect E67E
SH2D1Abase_D0078:g.58502G>A mutType missense
SH2D1Abase_D0078:g.62855C>T protEffect T68I
SH2D1Abase_D0078:g.62855C>T mutType missense
SH2D1Abase_D0078:g.62880T>A protEffect Y76X
SH2D1Abase_D0078:g.62880T>A mutType nonsense
SH2D1Abase_D0078:g.62891_62894delTAAA protEffect I80X94
SH2D1Abase_D0078:g.62891_62894delTAAA mutType frameshift
SH2D1Abase_D0078:g.62897dupA protEffect N82X103
SH2D1Abase_D0078:g.62897dupA mutType frameshift
SH2D1Abase_D0078:g.62901_62908delCATTTCAG protEffect L83X100
SH2D1Abase_D0078:g.62901_62908delCATTTCAG mutType frameshift
SH2D1Abase_D0078:g.62903T>C protEffect I84T
SH2D1Abase_D0078:g.62903T>C mutType missense
SH2D1Abase_D0078:g.62912T>C protEffect F87S
SH2D1Abase_D0078:g.62912T>C mutType missense
SH2D1Abase_D0078:g.62913delT protEffect F87X95
SH2D1Abase_D0078:g.62913delT mutType frameshift
SH2D1Abase_D0078:g.62937delA protEffect V95X117
SH2D1Abase_D0078:g.62937delA mutType frameshift
SH2D1Abase_D0078:g.62948A>C protEffect Q99P
SH2D1Abase_D0078:g.62948A>C mutType missense
SH2D1Abase_D0078:g.62952T>A protEffect Y100X
SH2D1Abase_D0078:g.62952T>A mutType nonsense
SH2D1Abase_D0078:g.62954C>T protEffect P101L
SH2D1Abase_D0078:g.62954C>T mutType missense
SH2D1Abase_D0078:g.62957T>G protEffect V102G
SH2D1Abase_D0078:g.62957T>G mutType missense
SH2D1Abase_D0078:g.64067T>A protEffect X129X141
SH2D1Abase_D0078:g.64067T>A mutType terminator
SH2D1Abase_D0078:g.58436C>G protEffect Y47X59
SH2D1Abase_D0078:g.58436C>G mutType loss
SH2D1Abase_D0078:g.62853delG mutType frameshift
SLC35C1base_D0036:g.1434C>T protEffect R147C
SLC35C1base_D0036:g.1434C>T mutType missense
SLC35C1base_D0036:g.6022delG protEffect W196X230
SLC35C1base_D0036:g.6022delG mutType frameshift
SLC35C1base_D0036:g.6357C>G protEffect T308R
SLC35C1base_D0036:g.6357C>G mutType missense
SLC35C1base_D0036:g.6403G>A protEffect W323X
SLC35C1base_D0036:g.6403G>A mutType nonsense
SLC35C1base_D0036:g.6444A>G protEffect Y337C
SLC35C1base_D0036:g.6444A>G mutType missense
SMARCAL1base_D0079:g.1003G>A protEffect M1I
SMARCAL1base_D0079:g.1003G>A mutType missense
SMARCAL1base_D0079:g.24753G>A protEffect R561H
SMARCAL1base_D0079:g.24753G>A mutType missense
SMARCAL1base_D0079:g.1049C>T protEffect R17X
SMARCAL1base_D0079:g.1049C>T mutType nonsense
SMARCAL1base_D0079:g.1100C>T protEffect Q34X
SMARCAL1base_D0079:g.1100C>T mutType nonsense
SMARCAL1base_D0079:g.1338_1339insAGTCCAC protEffect P113X117
SMARCAL1base_D0079:g.1338_1339insAGTCCAC mutType frameshift
SMARCAL1base_D0079:g.2577T>C protEffect F279S
SMARCAL1base_D0079:g.2577T>C mutType missense
SMARCAL1base_D0079:g.64512G>T protEffect E848X
SMARCAL1base_D0079:g.64512G>T mutType nonsense
SMARCAL1base_D0079:g.9968A>C protEffect H379P
SMARCAL1base_D0079:g.9968A>C mutType missense
SMARCAL1base_D0079:g.6687C>T protEffect Q319X
SMARCAL1base_D0079:g.6687C>T mutType nonsense
SMARCAL1base_D0079:g.6732C>T protEffect R334X
SMARCAL1base_D0079:g.6732C>T mutType nonsense
SMARCAL1base_D0079:g.9961G>C protEffect E377Q
SMARCAL1base_D0079:g.9961G>C mutType missense
SMARCAL1base_D0079:g.19106G>A protEffect R476Q
SMARCAL1base_D0079:g.19106G>A mutType missense
SMARCAL1base_D0079:g.9964G>T protEffect E378X
SMARCAL1base_D0079:g.9964G>T mutType nonsense
SMARCAL1base_D0079:g.14992dupC protEffect 417_417delins11
SMARCAL1base_D0079:g.14992dupC mutType frameshift
SMARCAL1base_D0079:g.50926T>G protEffect F702V
SMARCAL1base_D0079:g.50926T>G mutType missense
SMARCAL1base_D0079:g.19081G>C protEffect A468P
SMARCAL1base_D0079:g.19081G>C mutType missense
SMARCAL1base_D0079:g.50936C>T protEffect T705I
SMARCAL1base_D0079:g.50936C>T mutType missense
SMARCAL1base_D0079:g.19118C>T protEffect P480L
SMARCAL1base_D0079:g.19118C>T mutType missense
SMARCAL1base_D0079:g.21791T>A protEffect I548N
SMARCAL1base_D0079:g.21791T>A mutType missense
SMARCAL1base_D0079:g.37223C>T protEffect R645C
SMARCAL1base_D0079:g.37223C>T mutType missense
SMARCAL1base_D0079:g.24752C>T protEffect R561C
SMARCAL1base_D0079:g.24752C>T mutType missense
SMARCAL1base_D0079:g.61641C>A protEffect S774X
SMARCAL1base_D0079:g.61641C>A mutType nonsense
SMARCAL1base_D0079:g.33339C>T protEffect S579L
SMARCAL1base_D0079:g.33339C>T mutType missense
SMARCAL1base_D0079:g.33359C>T protEffect R586W
SMARCAL1base_D0079:g.33359C>T mutType missense
SMARCAL1base_D0079:g.63436G>A protEffect R820H
SMARCAL1base_D0079:g.63436G>A mutType missense
SMARCAL1base_D0079:g.37164C>G protEffect S625X
SMARCAL1base_D0079:g.37164C>G mutType nonsense
SMARCAL1base_D0079:g.37224G>A protEffect R645H
SMARCAL1base_D0079:g.37224G>A mutType missense
SMARCAL1base_D0079:g.37229A>C protEffect K647Q
SMARCAL1base_D0079:g.37229A>C mutType missense
SMARCAL1base_D0079:g.37230A>C protEffect K647T
SMARCAL1base_D0079:g.37230A>C mutType missense
SMARCAL1base_D0079:g.61584T>G protEffect I755S
SMARCAL1base_D0079:g.61584T>G mutType missense
SMARCAL1base_D0079:g.61583_61602del protEffect I755X756
SMARCAL1base_D0079:g.61583_61602del mutType frameshift
SMARCAL1base_D0079:g.61611G>A protEffect R764Q
SMARCAL1base_D0079:g.61611G>A mutType missense
SMARCAL1base_D0079:g.63439T>G protEffect I821S
SMARCAL1base_D0079:g.63439T>G mutType missense
SP110base_D0116:g.4051delC protEffect Q14X38
SP110base_D0116:g.4051delC mutType frameshift
SP110base_D0116:g.8567delC protEffect P214X228
SP110base_D0116:g.8567delC mutType frameshift
SPINK5base_D0080:g.7333C>T protEffect Q46X
SPINK5base_D0080:g.7333C>T mutType nonsense
SPINK5base_D0080:g.9132dupG protEffect A80X98
SPINK5base_D0080:g.9132dupG mutType frameshift
SPINK5base_D0080:g.7350delT protEffect F51X57
SPINK5base_D0080:g.7350delT mutType frameshift
SPINK5base_D0080:g.28167C>T protEffect R217X
SPINK5base_D0080:g.28167C>T mutType nonsense
SPINK5base_D0080:g.23385G>T protEffect G103X
SPINK5base_D0080:g.23385G>T mutType nonsense
SPINK5base_D0080:g.23432_23435delTTGT protEffect V118X144
SPINK5base_D0080:g.23432_23435delTTGT mutType frameshift
SPINK5base_D0080:g.23453_23454delAT protEffect T125X126
SPINK5base_D0080:g.23453_23454delAT mutType frameshift
SPINK5base_D0080:g.34905_34906insC protEffect 322_322delins21
SPINK5base_D0080:g.34905_34906insC mutType frameshift
SPINK5base_D0080:g.23455_23456delAT protEffect Y126X
SPINK5base_D0080:g.23455_23456delAT mutType nonsense
SPINK5base_D0080:g.57019C>T protEffect R790X
SPINK5base_D0080:g.57019C>T mutType nonsense
SPINK5base_D0080:g.45722G>T protEffect E541X
SPINK5base_D0080:g.45722G>T mutType nonsense
SPINK5base_D0080:g.31358dupT protEffect C239X244
SPINK5base_D0080:g.31358dupT mutType frameshift
SPINK5base_D0080:g.57282_57283delGA protEffect E825X826
SPINK5base_D0080:g.57282_57283delGA mutType frameshift
SPINK5base_D0080:g.23469_23470insCGTG protEffect A131X136
SPINK5base_D0080:g.23469_23470insCGTG mutType frameshift
SPINK5base_D0080:g.23470_23471dupGTGC protEffect A131X136
SPINK5base_D0080:g.23470_23471dupGTGC mutType frameshift
SPINK5base_D0080:g.23477_23478delTG protEffect C133X134
SPINK5base_D0080:g.23477_23478delTG mutType frameshift
SPINK5base_D0080:g.26556_26557delGT protEffect C194X198
SPINK5base_D0080:g.26556_26557delGT mutType frameshift
SPINK5base_D0080:g.28146C>T protEffect R210X
SPINK5base_D0080:g.28146C>T mutType nonsense
SPINK5base_D0080:g.31334delC protEffect Q231X232
SPINK5base_D0080:g.31334delC mutType frameshift
SPINK5base_D0080:g.28170C>T protEffect R218X
SPINK5base_D0080:g.28170C>T mutType nonsense
SPINK5base_D0080:g.31363_31364insT protEffect R241X244
SPINK5base_D0080:g.31363_31364insT mutType frameshift
SPINK5base_D0080:g.36215_36216dupGAAAA protEffect 346_346delins31
SPINK5base_D0080:g.36215_36216dupGAAAA mutType frameshift
SPINK5base_D0080:g.37428C>T protEffect R371X
SPINK5base_D0080:g.37428C>T mutType nonsense
SPINK5base_D0080:g.36227C>T protEffect R350X
SPINK5base_D0080:g.36227C>T mutType nonsense
SPINK5base_D0080:g.36265_36266delAT protEffect S362X368
SPINK5base_D0080:g.36265_36266delAT mutType frameshift
SPINK5base_D0080:g.53351_53352delAG protEffect R681X708
SPINK5base_D0080:g.53351_53352delAG mutType frameshift
SPINK5base_D0080:g.38785dupT protEffect C451X456
SPINK5base_D0080:g.38785dupT mutType frameshift
SPINK5base_D0080:g.53408G>T protEffect G700X
SPINK5base_D0080:g.53408G>T mutType nonsense
SPINK5base_D0080:g.55417C>T protEffect Q713X
SPINK5base_D0080:g.55417C>T mutType nonsense
SPINK5base_D0080:g.55961A>T protEffect K754X
SPINK5base_D0080:g.55961A>T mutType nonsense
SPINK5base_D0080:g.55964dupA protEffect N755X756
SPINK5base_D0080:g.55964dupA mutType frameshift
SPINK5base_D0080:g.57074C>T protEffect T808I
SPINK5base_D0080:g.57074C>T mutType missense
SPINK5base_D0080:g.57277delA protEffect 823_823delins101
SPINK5base_D0080:g.57277delA mutType frameshift
SPINK5base_D0080:g.37467_37468delGA protEffect E384X403
SPINK5base_D0080:g.37467_37468delGA mutType frameshift
SPINK5base_D0080:g.55959dupG protEffect R753X756
SPINK5base_D0080:g.55959dupG mutType frameshift
SPINK5base_D0080:g.55965dupA protEffect N755X756
SPINK5base_D0080:g.55965dupA mutType frameshift
SPINK5base_D0080:g.57277dupA protEffect K823X827
SPINK5base_D0080:g.57277dupA mutType frameshift
SPINK5base_D0080:g.60829delA protEffect K860X923
SPINK5base_D0080:g.60829delA mutType frameshift
SPINK5base_D0080:g.56014G>A protEffect 747_771delins11
SPINK5base_D0080:g.56014G>A mutType deletion
STAT1base_D0081:g.23382G>C protEffect E320Q
STAT1base_D0081:g.23382G>C mutType missense
STAT1base_D0081:g.30990G>T protEffect Q463H
STAT1base_D0081:g.30990G>T mutType missense
STAT1base_D0081:g.35720_35721delAG protEffect E587X604
STAT1base_D0081:g.35720_35721delAG mutType frameshift
STAT1base_D0081:g.35759T>C protEffect L600P
STAT1base_D0081:g.35759T>C mutType missense
STAT1base_D0081:g.38828C>T protEffect P696S
STAT1base_D0081:g.38828C>T mutType missense
STAT1base_D0081:g.38859T>C protEffect L706S
STAT1base_D0081:g.38859T>C mutType missense
STAT3base_D0128:g.53280C>T protEffect H332Y
STAT3base_D0128:g.53280C>T mutType missense
STAT3base_D0128:g.53311G>A protEffect G342D
STAT3base_D0128:g.53311G>A mutType missense
STAT3base_D0128:g.57365C>G protEffect R382G
STAT3base_D0128:g.57365C>G mutType missense
STAT3base_D0128:g.57366G>T protEffect R382L
STAT3base_D0128:g.57366G>T mutType missense
STAT3base_D0128:g.57366G>A protEffect R382Q
STAT3base_D0128:g.57366G>A mutType missense
STAT3base_D0128:g.57365C>T protEffect R382W
STAT3base_D0128:g.57365C>T mutType missense
STAT3base_D0128:g.57371T>C protEffect F384L
STAT3base_D0128:g.57371T>C mutType missense
STAT3base_D0128:g.57372T>C protEffect F384S
STAT3base_D0128:g.57372T>C mutType missense
STAT3base_D0128:g.57387C>T protEffect T389I
STAT3base_D0128:g.57387C>T mutType missense
STAT3base_D0128:g.57551A>T protEffect T412S
STAT3base_D0128:g.57551A>T mutType missense
STAT3base_D0128:g.57585G>A protEffect R423Q
STAT3base_D0128:g.57585G>A mutType missense
STAT3base_D0128:g.60821G>A protEffect V432M
STAT3base_D0128:g.60821G>A mutType missense
STAT3base_D0128:g.60837A>C protEffect H437P
STAT3base_D0128:g.60837A>C mutType missense
STAT3base_D0128:g.60836C>T protEffect H437Y
STAT3base_D0128:g.60836C>T mutType missense
STAT3base_D0128:g.61968_61970delGTG protEffect V463del
STAT3base_D0128:g.61968_61970delGTG mutType inframe
STAT3base_D0128:g.61974T>G protEffect S465A
STAT3base_D0128:g.61974T>G mutType missense
STAT3base_D0128:g.62288A>G protEffect K531E
STAT3base_D0128:g.62288A>G mutType missense
STAT3base_D0128:g.63948G>A protEffect S611N
STAT3base_D0128:g.63948G>A mutType missense
STAT3base_D0128:g.63979C>G protEffect F621L
STAT3base_D0128:g.63979C>G mutType missense
STAT3base_D0128:g.63977T>G protEffect F621V
STAT3base_D0128:g.63977T>G mutType missense
STAT3base_D0128:g.63981C>T protEffect T622I
STAT3base_D0128:g.63981C>T mutType missense
STAT3base_D0128:g.64534G>T protEffect V637L
STAT3base_D0128:g.64534G>T mutType missense
STAT3base_D0128:g.64534G>A protEffect V637M
STAT3base_D0128:g.64534G>A mutType missense
STAT3base_D0128:g.64538A>G protEffect E638G
STAT3base_D0128:g.64538A>G mutType missense
STAT3base_D0128:g.64540C>G protEffect P639A
STAT3base_D0128:g.64540C>G mutType missense
STAT3base_D0128:g.64556A>C protEffect Q644P
STAT3base_D0128:g.64556A>C mutType missense
STAT3base_D0128:g.64555_64557delCAG protEffect Q644del
STAT3base_D0128:g.64555_64557delCAG mutType inframe
STAT3base_D0128:g.64564A>G protEffect N647D
STAT3base_D0128:g.64564A>G mutType missense
STAT3base_D0128:g.64579G>A protEffect E652K
STAT3base_D0128:g.64579G>A mutType missense
STAT3base_D0128:g.64595A>G protEffect Y657C
STAT3base_D0128:g.64595A>G mutType missense
STAT3base_D0128:g.64694_64723del protEffect 690_700delinsG
STAT3base_D0128:g.64694_64723del mutType inframe
STAT5Bbase_D0082:g.53986C>T protEffect R152X
STAT5Bbase_D0082:g.53986C>T mutType nonsense
STAT5Bbase_D0082:g.59246dupC protEffect Q368X376
STAT5Bbase_D0082:g.59246dupC mutType frameshift
STAT5Bbase_D0082:g.60021dupG protEffect N398X413
STAT5Bbase_D0082:g.60021dupG mutType frameshift
STAT5Bbase_D0082:g.67275G>C protEffect A630P
STAT5Bbase_D0082:g.67275G>C mutType missense
STX11base_D0083:g.37206delC protEffect T37X62
STX11base_D0083:g.37206delC mutType frameshift
STX11base_D0083:g.37465_37472delinsTGG protEffect 123_126delins61
STX11base_D0083:g.37465_37472delinsTGG mutType frameshift
STX11base_D0083:g.37677_37680delTGGC protEffect L194X196
STX11base_D0083:g.37677_37680delTGGC mutType frameshift
STX11base_D0083:g.37898C>T protEffect Q268X
STX11base_D0083:g.37898C>T mutType nonsense
TAP1base_D0084:g.26198delC protEffect D213X228
TAP1base_D0084:g.26198delC mutType frameshift
TAP1base_D0084:g.28224C>T protEffect R378X
TAP1base_D0084:g.28224C>T mutType nonsense
TAP1base_D0084:g.30006C>T protEffect Q522X
TAP1base_D0084:g.30006C>T mutType nonsense
TAP2base_D0085:g.42907C>T protEffect R210X
TAP2base_D0085:g.42907C>T mutType nonsense
TAP2base_D0085:g.42937C>T protEffect R220X
TAP2base_D0085:g.42937C>T mutType nonsense
TAP2base_D0085:g.45870delA protEffect R327X379
TAP2base_D0085:g.45870delA mutType frameshift
TAZbase_D0087:g.1312_1313insG protEffect H4X133
TAZbase_D0087:g.1312_1313insG mutType frameshift
TAZbase_D0087:g.1560delC protEffect H41X42
TAZbase_D0087:g.1560delC mutType frameshift
TAZbase_D0087:g.1564A>C protEffect T43P
TAZbase_D0087:g.1564A>C mutType missense
TAZbase_D0087:g.1577_1589del protEffect R47X78
TAZbase_D0087:g.1577_1589del mutType frameshift
TAZbase_D0087:g.1590C>G protEffect Y51X
TAZbase_D0087:g.1590C>G mutType nonsense
TAZbase_D0087:g.1594dupC protEffect 53_53delins81
TAZbase_D0087:g.1594dupC mutType frameshift
TAZbase_D0087:g.1607G>T protEffect R57L
TAZbase_D0087:g.1607G>T mutType missense
TAZbase_D0087:g.1608delA protEffect R57X82
TAZbase_D0087:g.1608delA mutType frameshift
TAZbase_D0087:g.1644C>G protEffect H69Q
TAZbase_D0087:g.1644C>G mutType missense
TAZbase_D0087:g.2668G>A protEffect G80E
TAZbase_D0087:g.2668G>A mutType missense
TAZbase_D0087:g.2709C>T protEffect R94C
TAZbase_D0087:g.2709C>T mutType missense
TAZbase_D0087:g.2709C>A protEffect R94S
TAZbase_D0087:g.2709C>A mutType missense
TAZbase_D0087:g.3010T>C protEffect C118R
TAZbase_D0087:g.3010T>C mutType missense
TAZbase_D0087:g.3025C>T protEffect R123X
TAZbase_D0087:g.3025C>T mutType nonsense
TAZbase_D0087:g.9077T>A protEffect F178I
TAZbase_D0087:g.9077T>A mutType missense
TAZbase_D0087:g.9080delC protEffect P179X183
TAZbase_D0087:g.9080delC mutType frameshift
TAZbase_D0087:g.9174T>G protEffect V183G
TAZbase_D0087:g.9174T>G mutType missense
TAZbase_D0087:g.9188G>T protEffect E188X
TAZbase_D0087:g.9188G>T mutType nonsense
TAZbase_D0087:g.9206dupT protEffect W194X202
TAZbase_D0087:g.9206dupT mutType frameshift
TAZbase_D0087:g.9501G>A protEffect G197E
TAZbase_D0087:g.9501G>A mutType missense
TAZbase_D0087:g.9500G>A protEffect G197R
TAZbase_D0087:g.9500G>A mutType missense
TAZbase_D0087:g.9501G>T protEffect G197V
TAZbase_D0087:g.9501G>T mutType missense
TAZbase_D0087:g.9516_9519delAGTG protEffect E202X216
TAZbase_D0087:g.9516_9519delAGTG mutType frameshift
TAZbase_D0087:g.9537T>A protEffect I209N
TAZbase_D0087:g.9537T>A mutType missense
TAZbase_D0087:g.9540T>G protEffect L210R
TAZbase_D0087:g.9540T>G mutType missense
TAZbase_D0087:g.9542delC protEffect P211X217
TAZbase_D0087:g.9542delC mutType frameshift
TAZbase_D0087:g.9546T>C protEffect L212P
TAZbase_D0087:g.9546T>C mutType missense
TAZbase_D0087:g.9557G>A protEffect G216R
TAZbase_D0087:g.9557G>A mutType missense
TAZbase_D0087:g.9712delC protEffect 228_228delins11
TAZbase_D0087:g.9712delC mutType frameshift
TAZbase_D0087:g.9725C>T protEffect Q233X
TAZbase_D0087:g.9725C>T mutType nonsense
TAZbase_D0087:g.10121A>C protEffect K234Q
TAZbase_D0087:g.10121A>C mutType missense
TAZbase_D0087:g.10124dupA protEffect I235X310
TAZbase_D0087:g.10124dupA mutType frameshift
TAZbase_D0087:g.10139G>A protEffect G240R
TAZbase_D0087:g.10139G>A mutType missense
TAZbase_D0087:g.10460_10461dupCCTGG protEffect G291X340
TAZbase_D0087:g.10460_10461dupCCTGG mutType frameshift
TAZbase_D0087:g.2823G>A protEffect W95X96
TAZbase_D0087:g.2823G>A mutType insertion
TAZbase_D0087:g.9674G>C mutType deletion
TCIRG1base_AF033033.2:g.2418A>T protEffect V26_D39del
TCIRG1base_AF033033.2:g.2418A>T mutType inframe
TCIRG1base_AF033033.2:g.4391C>A protEffect N168X175
TCIRG1base_AF033033.2:g.4391C>A mutType frameshift
TCIRG1base_AF033033.2:g.4637G>A protEffect G211_W224del
TCIRG1base_AF033033.2:g.4637G>A mutType inframe
TCIRG1base_AF033033.2:g.4654C>T protEffect Q230X
TCIRG1base_AF033033.2:g.4654C>T mutType nonsense
TCIRG1base_AF033033.2:g.11647_11650delGGAG protEffect M791X819
TCIRG1base_AF033033.2:g.11647_11650delGGAG mutType frameshift
TCIRG1base_AF033033.2:g.6078C>T protEffect Q372X
TCIRG1base_AF033033.2:g.6078C>T mutType nonsense
TCIRG1base_AF033033.2:g.8759C>A protEffect C248X
TCIRG1base_AF033033.2:g.8759C>A mutType nonsense
TCIRG1base_AF033033.2:g.5272delC protEffect Q308X311
TCIRG1base_AF033033.2:g.5272delC mutType frameshift
TCIRG1base_AF033033.2:g.5320_5321insG protEffect C324X489
TCIRG1base_AF033033.2:g.5320_5321insG mutType frameshift
TCIRG1base_AF033033.2:g.5988G>T protEffect E342X
TCIRG1base_AF033033.2:g.5988G>T mutType nonsense
TCIRG1base_AF033033.2:g.8463_8464insA protEffect Y391X489
TCIRG1base_AF033033.2:g.8463_8464insA mutType frameshift
TCIRG1base_AF033033.2:g.8590C>T protEffect Q433X
TCIRG1base_AF033033.2:g.8590C>T mutType nonsense
TCIRG1base_AF033033.2:g.8749_8751delACA protEffect 461_462delinsY
TCIRG1base_AF033033.2:g.8749_8751delACA mutType inframe
TCIRG1base_AF033033.2:g.8805_8806delGC protEffect A480X488
TCIRG1base_AF033033.2:g.8805_8806delGC mutType frameshift
TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC protEffect 776_779delinsI
TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC mutType inframe
TCIRG1base_AF033033.2:g.10220G>A protEffect W596X
TCIRG1base_AF033033.2:g.10220G>A mutType nonsense
TCIRG1base_AF033033.2:g.10809C>T protEffect R670X
TCIRG1base_AF033033.2:g.10809C>T mutType nonsense
TCIRG1base_AF033033.2:g.11086_11160del protEffect 705_730delinsD
TCIRG1base_AF033033.2:g.11086_11160del mutType inframe
TCIRG1base_AF033033.2:g.11598C>G protEffect P775R
TCIRG1base_AF033033.2:g.11598C>G mutType missense
TCIRG1base_AF033033.2:g.11765G>A protEffect W805X
TCIRG1base_AF033033.2:g.11765G>A mutType nonsense
TCN2base_D0088:g.60260delC protEffect L58X85
TCN2base_D0088:g.60260delC mutType frameshift
TCN2base_D0088:g.62284delA protEffect S129X206
TCN2base_D0088:g.62284delA mutType frameshift
TCN2base_D0088:g.72253T>G protEffect Y370X
TCN2base_D0088:g.72253T>G mutType nonsense
TCN2base_D0088:g.63700_63701delTC protEffect L166X172
TCN2base_D0088:g.63700_63701delTC mutType frameshift
TCN2base_D0088:g.72282dupA protEffect Y380X
TCN2base_D0088:g.72282dupA mutType nonsense
TCN2base_D0088:g.63704_63706delCCA protEffect 167_168delinsQ
TCN2base_D0088:g.63704_63706delCCA mutType inframe
TCN2base_D0088:g.72258_72259delCA protEffect T372X410
TCN2base_D0088:g.72258_72259delCA mutType frameshift
TCN2base_D0088:g.65056_65059delTCTG protEffect C309X358
TCN2base_D0088:g.65056_65059delTCTG mutType frameshift
TCN2base_D0088:g.72338C>T protEffect R399X
TCN2base_D0088:g.72338C>T mutType nonsense
TCN2base_D0088:g.75755_75756delCA protEffect 412_413delinsX
TCN2base_D0088:g.75755_75756delCA mutType nonsense
TCN2base_D0088:g.62326T>G protEffect E117_G143del
TCN2base_D0088:g.62326T>G mutType inframe
TLR3base_D0124:g.14440T>C protEffect F303S
TLR3base_D0124:g.14440T>C mutType missense
TLR3base_D0124:g.15192C>T protEffect P554S
TLR3base_D0124:g.15192C>T mutType missense
TMC6base_D0030:g.7080C>T protEffect Q74X
TMC6base_D0030:g.7080C>T mutType nonsense
TMC6base_D0030:g.7532C>T protEffect R94X
TMC6base_D0030:g.7532C>T mutType nonsense
TMC6base_D0030:g.8737C>A protEffect Y248X
TMC6base_D0030:g.8737C>A mutType nonsense
TMC6base_D0030:g.9253_9254dupCATGT protEffect Y306X317
TMC6base_D0030:g.9253_9254dupCATGT mutType frameshift
TMC6base_D0030:g.9305delT protEffect L323X349
TMC6base_D0030:g.9305delT mutType frameshift
TMC6base_D0030:g.14026G>T protEffect E576X
TMC6base_D0030:g.14026G>T mutType nonsense
TMC8base_D0031:g.2133G>A protEffect W63X
TMC8base_D0031:g.2133G>A mutType nonsense
TMC8base_D0031:g.3648_3669del protEffect G187X218
TMC8base_D0031:g.3648_3669del mutType frameshift
TMC8base_D0031:g.3648_3670del protEffect G187X258
TMC8base_D0031:g.3648_3670del mutType frameshift
TMC8base_D0031:g.3655C>T protEffect R190X
TMC8base_D0031:g.3655C>T mutType nonsense
TMC8base_D0031:g.4152delT protEffect F252X283
TMC8base_D0031:g.4152delT mutType frameshift
TMC8base_D0031:g.5179G>T protEffect E362X
TMC8base_D0031:g.5179G>T mutType nonsense
TNFRSF13Bbase_D0105:g.20568C>A protEffect P42T
TNFRSF13Bbase_D0105:g.20568C>A mutType missense
TNFRSF13Bbase_D0105:g.24109_24110insA protEffect S68X80
TNFRSF13Bbase_D0105:g.24109_24110insA mutType frameshift
TNFRSF13Bbase_D0105:g.24216T>C protEffect C104R
TNFRSF13Bbase_D0105:g.24216T>C mutType missense
TNFRSF13Bbase_D0105:g.24110dupA protEffect L69X80
TNFRSF13Bbase_D0105:g.24110dupA mutType frameshift
TNFRSF13Bbase_D0105:g.32674C>A protEffect A181E
TNFRSF13Bbase_D0105:g.32674C>A mutType missense
TNFRSF13Bbase_D0105:g.24337C>A protEffect S144X
TNFRSF13Bbase_D0105:g.24337C>A mutType nonsense
TNFRSF13Bbase_D0105:g.32647G>A protEffect C172Y
TNFRSF13Bbase_D0105:g.32647G>A mutType missense
TNFRSF13Bbase_D0105:g.32713_32714delinsAA protEffect S194X
TNFRSF13Bbase_D0105:g.32713_32714delinsAA mutType nonsense
TNFRSF13Bbase_D0105:g.32737G>A protEffect R202H
TNFRSF13Bbase_D0105:g.32737G>A mutType missense
TYK2base_D0118:g.11027_11030delGCTT protEffect 70_71delins21
TYK2base_D0118:g.11027_11030delGCTT mutType frameshift
UNC13Dbase_D0091:g.2473G>A protEffect A59T
UNC13Dbase_D0091:g.2473G>A mutType missense
UNC13Dbase_D0091:g.5211G>T protEffect Q251H
UNC13Dbase_D0091:g.5211G>T mutType missense
UNC13Dbase_D0091:g.3157delA protEffect P147X161
UNC13Dbase_D0091:g.3157delA mutType frameshift
UNC13Dbase_D0091:g.8805G>T protEffect W354L
UNC13Dbase_D0091:g.8805G>T mutType missense
UNC13Dbase_D0091:g.2475_2476delAC protEffect A59X70
UNC13Dbase_D0091:g.2475_2476delAC mutType frameshift
UNC13Dbase_D0091:g.11622_11625delGGAG protEffect R782X793
UNC13Dbase_D0091:g.11622_11625delGGAG mutType frameshift
UNC13Dbase_D0091:g.2512delC protEffect P72X75
UNC13Dbase_D0091:g.2512delC mutType frameshift
UNC13Dbase_D0091:g.2545C>T protEffect R83X
UNC13Dbase_D0091:g.2545C>T mutType nonsense
UNC13Dbase_D0091:g.2675C>T protEffect Q98X
UNC13Dbase_D0091:g.2675C>T mutType nonsense
UNC13Dbase_D0091:g.3248delC protEffect 178_178delins71
UNC13Dbase_D0091:g.3248delC mutType frameshift
UNC13Dbase_D0091:g.4900delT protEffect T209X248
UNC13Dbase_D0091:g.4900delT mutType frameshift
UNC13Dbase_D0091:g.4913C>T protEffect R214X
UNC13Dbase_D0091:g.4913C>T mutType nonsense
UNC13Dbase_D0091:g.9864G>C protEffect N515X530
UNC13Dbase_D0091:g.9864G>C mutType frameshift
UNC13Dbase_D0091:g.14565T>G protEffect F857C
UNC13Dbase_D0091:g.14565T>G mutType missense
UNC13Dbase_D0091:g.10308A>G protEffect E616G
UNC13Dbase_D0091:g.10308A>G mutType missense
UNC13Dbase_D0091:g.5104C>T protEffect R256X
UNC13Dbase_D0091:g.5104C>T mutType nonsense
UNC13Dbase_D0091:g.5401C>T protEffect R256X
UNC13Dbase_D0091:g.5401C>T mutType nonsense
UNC13Dbase_D0091:g.5452C>T protEffect R273X
UNC13Dbase_D0091:g.5452C>T mutType nonsense
UNC13Dbase_D0091:g.15103T>C protEffect L891P
UNC13Dbase_D0091:g.15103T>C mutType missense
UNC13Dbase_D0091:g.8889G>A protEffect W382X
UNC13Dbase_D0091:g.8889G>A mutType nonsense
UNC13Dbase_D0091:g.9056T>C protEffect L403P
UNC13Dbase_D0091:g.9056T>C mutType missense
UNC13Dbase_D0091:g.9089G>T protEffect R414L
UNC13Dbase_D0091:g.9089G>T mutType missense
UNC13Dbase_D0091:g.15308C>T protEffect R928C
UNC13Dbase_D0091:g.15308C>T mutType missense
UNC13Dbase_D0091:g.9846C>T protEffect R527W
UNC13Dbase_D0091:g.9846C>T mutType missense
UNC13Dbase_D0091:g.10037delG protEffect E565X571
UNC13Dbase_D0091:g.10037delG mutType frameshift
UNC13Dbase_D0091:g.10066dupA protEffect E575X584
UNC13Dbase_D0091:g.10066dupA mutType frameshift
UNC13Dbase_D0091:g.10214dupT protEffect F585X616
UNC13Dbase_D0091:g.10214dupT mutType frameshift
UNC13Dbase_D0091:g.10283_10294del protEffect V608_A611del
UNC13Dbase_D0091:g.10283_10294del mutType inframe
UNC13Dbase_D0091:g.11048G>C protEffect R680P
UNC13Dbase_D0091:g.11048G>C mutType missense
UNC13Dbase_D0091:g.11258G>A protEffect W721X
UNC13Dbase_D0091:g.11258G>A mutType nonsense
UNC13Dbase_D0091:g.11622delG protEffect R782X794
UNC13Dbase_D0091:g.11622delG mutType frameshift
UNC13Dbase_D0091:g.15309G>C protEffect R928P
UNC13Dbase_D0091:g.15309G>C mutType missense
UNC13Dbase_D0091:g.16911T>G protEffect L1044R
UNC13Dbase_D0091:g.16911T>G mutType missense
UNC13Dbase_D0091:g.17673C>T protEffect R1065X
UNC13Dbase_D0091:g.17673C>T mutType nonsense
UNC13Dbase_D0091:g.2794G>A protEffect K108X122
UNC13Dbase_D0091:g.2794G>A mutType frameshift
UNC93B1base_D0122:g.6765G>A protEffect L230X417
UNC93B1base_D0122:g.6765G>A mutType loss
UNC93B1base_D0122:g.8466_8469delCTTT protEffect P345X447
UNC93B1base_D0122:g.8466_8469delCTTT mutType frameshift
UNGbase_D0092:g.1952C>T protEffect R88C
UNGbase_D0092:g.1952C>T mutType missense
UNGbase_D0092:g.2632delC protEffect P131X143
UNGbase_D0092:g.2632delC mutType frameshift
UNGbase_D0092:g.6265_6266delTA protEffect I190X226
UNGbase_D0092:g.6265_6266delTA mutType frameshift
UNGbase_D0092:g.2667_2668delAT protEffect I143X159
UNGbase_D0092:g.2667_2668delAT mutType frameshift
UNGbase_D0092:g.6953T>C protEffect F251S
UNGbase_D0092:g.6953T>C mutType missense
WASbase_AF196970.2:g.31662delG protEffect 4_4delins41
WASbase_AF196970.2:g.31662delG mutType frameshift
WASbase_AF196970.2:g.31688C>T protEffect R13X
WASbase_AF196970.2:g.31688C>T mutType nonsense
WASbase_AF196970.2:g.31730C>T protEffect L27F
WASbase_AF196970.2:g.31730C>T mutType missense
WASbase_AF196970.2:g.31758_31759delTT protEffect F36X
WASbase_AF196970.2:g.31758_31759delTT mutType nonsense
WASbase_AF196970.2:g.32121C>G protEffect P58R
WASbase_AF196970.2:g.32121C>G mutType missense
WASbase_AF196970.2:g.32147G>A protEffect E67K
WASbase_AF196970.2:g.32147G>A mutType missense
WASbase_AF196970.2:g.32147G>T protEffect E67X
WASbase_AF196970.2:g.32147G>T mutType nonsense
WASbase_AF196970.2:g.32175A>C protEffect K76T
WASbase_AF196970.2:g.32175A>C mutType missense
WASbase_AF196970.2:g.32177G>C protEffect D77H
WASbase_AF196970.2:g.32177G>C mutType missense
WASbase_AF196970.2:g.32204C>T protEffect R86C
WASbase_AF196970.2:g.32204C>T mutType missense
WASbase_AF196970.2:g.32204C>G protEffect R86G
WASbase_AF196970.2:g.32204C>G mutType missense
WASbase_AF196970.2:g.32214G>A protEffect G89D
WASbase_AF196970.2:g.32214G>A mutType missense
WASbase_AF196970.2:g.33401delC protEffect P110X126
WASbase_AF196970.2:g.33401delC mutType frameshift
WASbase_AF196970.2:g.33401dupC protEffect 111_111delins11
WASbase_AF196970.2:g.33401dupC mutType frameshift
WASbase_AF196970.2:g.33425_33426insGGAGAT protEffect 118_119insGD
WASbase_AF196970.2:g.33425_33426insGGAGAT mutType inframe
WASbase_AF196970.2:g.33613dupA protEffect 148_148delins21
WASbase_AF196970.2:g.33613dupA mutType frameshift
WASbase_AF196970.2:g.35880delC protEffect Q255X260
WASbase_AF196970.2:g.35880delC mutType frameshift
WASbase_AF196970.2:g.36510delG protEffect R328X444
WASbase_AF196970.2:g.36510delG mutType frameshift
WASbase_AF196970.2:g.36527delG protEffect 334_334delins111
WASbase_AF196970.2:g.36527delG mutType frameshift
WASbase_AF196970.2:g.36548dupC protEffect P341X494
WASbase_AF196970.2:g.36548dupC mutType frameshift
WASbase_AF196970.2:g.36605delC protEffect P360X444
WASbase_AF196970.2:g.36605delC mutType frameshift
WASbase_AF196970.2:g.36616C>T protEffect R364X
WASbase_AF196970.2:g.36616C>T mutType nonsense
WASbase_AF196970.2:g.36677delC protEffect 384_384delins61
WASbase_AF196970.2:g.36677delC mutType frameshift
WASbase_AF196970.2:g.36677dupC protEffect 384_384delins111
WASbase_AF196970.2:g.36677dupC mutType frameshift
ZAP70base_D0057:g.11708C>A protEffect P80Q
ZAP70base_D0057:g.11708C>A mutType missense
ZAP70base_D0057:g.25518A>T protEffect M572L
ZAP70base_D0057:g.25518A>T mutType missense
ZAP70base_D0057:g.22073T>G protEffect L337R
ZAP70base_D0057:g.22073T>G mutType missense
ZAP70base_D0057:g.25009C>T protEffect R465C
ZAP70base_D0057:g.25009C>T mutType missense
ZAP70base_D0057:g.25217_25229del protEffect K504X539
ZAP70base_D0057:g.25217_25229del mutType frameshift
ZAP70base_D0057:g.25227C>T protEffect A507V
ZAP70base_D0057:g.25227C>T mutType missense
ZAP70base_D0057:g.25261C>A protEffect S518R
ZAP70base_D0057:g.25261C>A mutType missense
ZAP70base_D0057:g.25417G>A protEffect 541_542insLEQ
ZAP70base_D0057:g.25417G>A mutType inframe
ZAP70base_D0057:g.25494T>C protEffect C564R
ZAP70base_D0057:g.25494T>C mutType missense
AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC
BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG
BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA
BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC
CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT
RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA
SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC
SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC
AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC
BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG
BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA
BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC
CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT
RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA
SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC
SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC
AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC
BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG
BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA
BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC
CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT
RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA
SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC
SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC
AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC
BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG
BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA
BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC
CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT
IL12RB1base_D0048:g.12083_12084dup longName D0048:g.12083_12084dupCTCCGACGACGGCAGCT
RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA
SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC
SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC
AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC
BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG
BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA
BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC
CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT
CYBBbase_D0025:g.16991_16992ins longName D0025:g.16991_16992insACCCCCTCTTTGAATAATCCTAATCATCCCTCACAGACATC
CYBBbase_D0025:g.19998_19999ins longName D0025:g.19998_19999insTGCTGGAAACCCTCCTATGGT
CYBBbase_D0025:g.25971_25973delins longName D0025:g.25971_25973delinsATGTGATGAACACAT
CYBBbase_D0025:g.26024_26025ins longName D0025:g.26024_26025insGGGGTCACACCCTTCGCATCCATT
CYBBbase_D0025:g.31802_31803ins longName D0025:g.31802_31803insGAGTCTGGCCCTCGGGGAGTGCATTTCA
IL12RB1base_D0048:g.12083_12084dup longName D0048:g.12083_12084dupCTCCGACGACGGCAGCT
RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA
SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC
SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC
KinMutBase_TGFBR2_DNA:g.85628G>C protEffect R537P
KinMutBase_TGFBR2_DNA:g.85628G>C mutType missense
KinMutBase_TGFBR2_DNA:g.85594G>C protEffect E526Q
KinMutBase_TGFBR2_DNA:g.85594G>C mutType missense
KinMutBase_TGFBR2_DNA:g.68345A>G protEffect T458A
KinMutBase_TGFBR2_DNA:g.68345A>G mutType missense
KinMutBase_TGFBR2_DNA:g.66250C>T protEffect T315M
KinMutBase_TGFBR2_DNA:g.66250C>T mutType missense
KinMutBase_TGFBR2_DNA:g.66520A>G protEffect D405G
KinMutBase_TGFBR2_DNA:g.66520A>G mutType missense
KinMutBase_RPS6KA3_DNA:g.79710T>G protEffect S227A
KinMutBase_RPS6KA3_DNA:g.79710T>G mutType missense
KinMutBase_RPS6KA3_DNA:g.58326G>T protEffect G75V
KinMutBase_RPS6KA3_DNA:g.58326G>T mutType missense
KinMutBase_RPS6KA3_DNA:g.105964G>A protEffect W645X
KinMutBase_RPS6KA3_DNA:g.105964G>A mutType nonsense
KinMutBase_RPS6KA3_DNA:g.63530G>T protEffect V82F
KinMutBase_RPS6KA3_DNA:g.63530G>T mutType missense
KinMutBase_RPS6KA3_DNA:g.102642C>T protEffect R558X
KinMutBase_RPS6KA3_DNA:g.102642C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.99982C>T protEffect R514X
KinMutBase_RPS6KA3_DNA:g.99982C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.90616C>T protEffect R305X
KinMutBase_RPS6KA3_DNA:g.90616C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.81309C>T protEffect R273X
KinMutBase_RPS6KA3_DNA:g.81309C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.72496C>T protEffect R112X
KinMutBase_RPS6KA3_DNA:g.72496C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.72490C>T protEffect R110X
KinMutBase_RPS6KA3_DNA:g.72490C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.63582delT protEffect M99X102
KinMutBase_RPS6KA3_DNA:g.63582delT mutType frameshift
KinMutBase_RPS6KA3_DNA:g.63548delA protEffect I88X99
KinMutBase_RPS6KA3_DNA:g.63548delA mutType frameshift
KinMutBase_RPS6KA3_DNA:g.72543T>G protEffect H127Q
KinMutBase_RPS6KA3_DNA:g.72543T>G mutType missense
KinMutBase_RPS6KA3_DNA:g.94826G>A protEffect G431D
KinMutBase_RPS6KA3_DNA:g.94826G>A mutType missense
KinMutBase_RPS6KA3_DNA:g.73418G>T protEffect D154Y
KinMutBase_RPS6KA3_DNA:g.73418G>T mutType missense
KinMutBase_RPS6KA3_DNA:g.79705C>T protEffect A225V
KinMutBase_RPS6KA3_DNA:g.79705C>T mutType missense
KinMutBase_RET_DNA:g.43492A>G protEffect Y806C
KinMutBase_RET_DNA:g.43492A>G mutType missense
KinMutBase_RET_DNA:g.42397A>T protEffect Y791F
KinMutBase_RET_DNA:g.42397A>T mutType missense
KinMutBase_RET_DNA:g.44081T>G protEffect S891A
KinMutBase_RET_DNA:g.44081T>G mutType missense
KinMutBase_RET_DNA:g.42321C>T protEffect P766S
KinMutBase_RET_DNA:g.42321C>T mutType missense
KinMutBase_RET_DNA:g.42395G>T protEffect L790F
KinMutBase_RET_DNA:g.42395G>T mutType missense
KinMutBase_RET_DNA:g.42395G>C protEffect L790F
KinMutBase_RET_DNA:g.42395G>C mutType missense
KinMutBase_RET_DNA:g.45908C>T protEffect A919V
KinMutBase_RET_DNA:g.45908C>T mutType missense
KinMutBase_RET_DNA:g.47631G>A protEffect W942X
KinMutBase_RET_DNA:g.47631G>A mutType nonsense
KinMutBase_RET_DNA:g.43485G>A protEffect V804M
KinMutBase_RET_DNA:g.43485G>A mutType missense
KinMutBase_RET_DNA:g.43485G>T protEffect V804L
KinMutBase_RET_DNA:g.43485G>T mutType missense
KinMutBase_RET_DNA:g.45917C>A protEffect S922Y
KinMutBase_RET_DNA:g.45917C>A mutType missense
KinMutBase_RET_DNA:g.42318T>C protEffect S765P
KinMutBase_RET_DNA:g.42318T>C mutType missense
KinMutBase_RET_DNA:g.47720A>G protEffect R972G
KinMutBase_RET_DNA:g.47720A>G mutType missense
KinMutBase_RET_DNA:g.44100G>A protEffect R897Q
KinMutBase_RET_DNA:g.44100G>A mutType missense
KinMutBase_RET_DNA:g.47724C>T protEffect P973L
KinMutBase_RET_DNA:g.47724C>T mutType missense
KinMutBase_RET_DNA:g.45905T>C protEffect M918T
KinMutBase_RET_DNA:g.45905T>C mutType missense
KinMutBase_RET_DNA:g.45913G>T protEffect E921X
KinMutBase_RET_DNA:g.45913G>T mutType nonsense
KinMutBase_RET_DNA:g.42329G>C protEffect E768D
KinMutBase_RET_DNA:g.42329G>C mutType missense
KinMutBase_RET_DNA:g.40668G>C protEffect E762Q
KinMutBase_RET_DNA:g.40668G>C mutType missense
KinMutBase_STK11_DNA:g.15407delC protEffect P281X286
KinMutBase_STK11_DNA:g.15407delC mutType frameshift
KinMutBase_STK11_DNA:g.15407C>T protEffect P281L
KinMutBase_STK11_DNA:g.15407C>T mutType missense
KinMutBase_STK11_DNA:g.15304delA protEffect N247X286
KinMutBase_STK11_DNA:g.15304delA mutType frameshift
KinMutBase_STK11_DNA:g.15300delC protEffect L245X286
KinMutBase_STK11_DNA:g.15300delC mutType frameshift
KinMutBase_STK11_DNA:g.13454delC protEffect 140_140delins21
KinMutBase_STK11_DNA:g.13454delC mutType frameshift
KinMutBase_STK11_DNA:g.14714G>A protEffect G215D
KinMutBase_STK11_DNA:g.14714G>A mutType missense
KinMutBase_STK11_DNA:g.14506G>A protEffect G171S
KinMutBase_STK11_DNA:g.14506G>A mutType missense
KinMutBase_STK11_DNA:g.14590G>A protEffect E199K
KinMutBase_STK11_DNA:g.14590G>A mutType missense
KinMutBase_STK11_DNA:g.14692G>A protEffect D208N
KinMutBase_STK11_DNA:g.14692G>A mutType missense
KinMutBase_STK11_DNA:g.1180C>G protEffect Y60X
KinMutBase_STK11_DNA:g.1180C>G mutType nonsense
KinMutBase_STK11_DNA:g.15324C>A protEffect Y253X
KinMutBase_STK11_DNA:g.15324C>A mutType nonsense
KinMutBase_STK11_DNA:g.14786delG protEffect W239X286
KinMutBase_STK11_DNA:g.14786delG mutType frameshift
KinMutBase_STK11_DNA:g.14503C>T protEffect Q170X
KinMutBase_STK11_DNA:g.14503C>T mutType nonsense
KinMutBase_STK11_DNA:g.15408delG protEffect P281X286
KinMutBase_STK11_DNA:g.15408delG mutType frameshift
KinMutBase_STK11_DNA:g.1200T>C protEffect L67P
KinMutBase_STK11_DNA:g.1200T>C mutType missense
KinMutBase_STK11_DNA:g.1250A>T protEffect K84X
KinMutBase_STK11_DNA:g.1250A>T mutType nonsense
KinMutBase_STK11_DNA:g.16081delT protEffect I303X335
KinMutBase_STK11_DNA:g.16081delT mutType frameshift
KinMutBase_STK11_DNA:g.14483G>A protEffect G163D
KinMutBase_STK11_DNA:g.14483G>A mutType missense
KinMutBase_STK11_DNA:g.1208G>T protEffect E70X
KinMutBase_STK11_DNA:g.1208G>T mutType nonsense
KinMutBase_STK11_DNA:g.1169G>T protEffect E57X
KinMutBase_STK11_DNA:g.1169G>T mutType nonsense
KinMutBase_STK11_DNA:g.14575G>T protEffect D194Y
KinMutBase_STK11_DNA:g.14575G>T mutType missense
KinMutBase_TEK_DNA:g.49939C>T protEffect R849W
KinMutBase_TEK_DNA:g.49939C>T mutType missense
KinMutBase_PAK3_DNA:g.74385C>T protEffect R419X
KinMutBase_PAK3_DNA:g.74385C>T mutType nonsense
KinMutBase_NTRK1_DNA:g.19327C>T protEffect R643W
KinMutBase_NTRK1_DNA:g.19327C>T mutType missense
KinMutBase_NTRK1_DNA:g.16493delC protEffect R548X651
KinMutBase_NTRK1_DNA:g.16493delC mutType frameshift
KinMutBase_NTRK1_DNA:g.16592A>G protEffect M581V
KinMutBase_NTRK1_DNA:g.16592A>G mutType missense
KinMutBase_NTRK1_DNA:g.19192C>T protEffect H598Y
KinMutBase_NTRK1_DNA:g.19192C>T mutType missense
KinMutBase_NTRK1_DNA:g.20158G>A protEffect G708S
KinMutBase_NTRK1_DNA:g.20158G>A mutType missense
KinMutBase_NTRK1_DNA:g.19220G>T protEffect G607V
KinMutBase_NTRK1_DNA:g.19220G>T mutType missense
KinMutBase_NTRK1_DNA:g.16562G>C protEffect G571R
KinMutBase_NTRK1_DNA:g.16562G>C mutType missense
KinMutBase_MET_DNA:g.111955T>C protEffect Y1230H
KinMutBase_MET_DNA:g.111955T>C mutType missense
KinMutBase_MET_DNA:g.111956A>G protEffect Y1230C
KinMutBase_MET_DNA:g.111956A>G mutType missense
KinMutBase_MET_DNA:g.111925G>A protEffect V1220I
KinMutBase_MET_DNA:g.111925G>A mutType missense
KinMutBase_MET_DNA:g.110623G>T protEffect V1188L
KinMutBase_MET_DNA:g.110623G>T mutType missense
KinMutBase_MET_DNA:g.112016T>C protEffect M1250T
KinMutBase_MET_DNA:g.112016T>C mutType missense
KinMutBase_MET_DNA:g.107423T>C protEffect M1131T
KinMutBase_MET_DNA:g.107423T>C mutType missense
KinMutBase_MET_DNA:g.110644C>G protEffect L1195V
KinMutBase_MET_DNA:g.110644C>G mutType missense
KinMutBase_MET_DNA:g.111949G>A protEffect D1228N
KinMutBase_MET_DNA:g.111949G>A mutType missense
KinMutBase_MET_DNA:g.111949G>C protEffect D1228H
KinMutBase_MET_DNA:g.111949G>C mutType missense
KinMutBase_KIT_DNA:g.71041delA protEffect K642X644
KinMutBase_KIT_DNA:g.71041delA mutType frameshift
KinMutBase_KIT_DNA:g.71065A>C protEffect H650P
KinMutBase_KIT_DNA:g.71065A>C mutType missense
KinMutBase_KIT_DNA:g.71006delT protEffect H630X631
KinMutBase_KIT_DNA:g.71006delT mutType frameshift
KinMutBase_KIT_DNA:g.71006T>A protEffect H630Q
KinMutBase_KIT_DNA:g.71006T>A mutType missense
KinMutBase_KIT_DNA:g.71106G>A protEffect G664R
KinMutBase_KIT_DNA:g.71106G>A mutType missense
KinMutBase_KIT_DNA:g.79580A>C protEffect E861A
KinMutBase_KIT_DNA:g.79580A>C mutType missense
KinMutBase_KIT_DNA:g.76152A>G protEffect D820G
KinMutBase_KIT_DNA:g.76152A>G mutType missense
KinMutBase_KIT_DNA:g.76140A>T protEffect D816V
KinMutBase_KIT_DNA:g.76140A>T mutType missense
KinMutBase_KIT_DNA:g.70894G>A protEffect A621T
KinMutBase_KIT_DNA:g.70894G>A mutType missense
KinMutBase_ACVRL1_DNA:g.4745G>A protEffect R411Q
KinMutBase_ACVRL1_DNA:g.4745G>A mutType missense
KinMutBase_ACVRL1_DNA:g.4633C>T protEffect R374W
KinMutBase_ACVRL1_DNA:g.4633C>T mutType missense
KinMutBase_ACVRL1_DNA:g.7534C>A protEffect P424T
KinMutBase_ACVRL1_DNA:g.7534C>A mutType missense
KinMutBase_ACVRL1_DNA:g.4640T>G protEffect M376R
KinMutBase_ACVRL1_DNA:g.4640T>G mutType missense
KinMutBase_INSR_DNA:g.175329G>C protEffect W1227S
KinMutBase_INSR_DNA:g.175329G>C mutType missense
KinMutBase_INSR_DNA:g.174272G>T protEffect W1220L
KinMutBase_INSR_DNA:g.174272G>T mutType missense
KinMutBase_INSR_DNA:g.174215G>A protEffect R1201Q
KinMutBase_INSR_DNA:g.174215G>A mutType missense
KinMutBase_INSR_DNA:g.174185G>A protEffect R1191Q
KinMutBase_INSR_DNA:g.174185G>A mutType missense
KinMutBase_INSR_DNA:g.172222G>A protEffect R1158Q
KinMutBase_INSR_DNA:g.172222G>A mutType missense
KinMutBase_INSR_DNA:g.174227C>T protEffect P1205L
KinMutBase_INSR_DNA:g.174227C>T mutType missense
KinMutBase_INSR_DNA:g.174153G>A protEffect M1180I
KinMutBase_INSR_DNA:g.174153G>A mutType missense
KinMutBase_INSR_DNA:g.172157delG protEffect M1136X1150
KinMutBase_INSR_DNA:g.172157delG mutType frameshift
KinMutBase_INSR_DNA:g.171927A>G protEffect K1095E
KinMutBase_INSR_DNA:g.171927A>G mutType missense
KinMutBase_INSR_DNA:g.174231G>C protEffect E1206D
KinMutBase_INSR_DNA:g.174231G>C mutType missense
KinMutBase_INSR_DNA:g.172234C>A protEffect A1162E
KinMutBase_INSR_DNA:g.172234C>A mutType missense
KinMutBase_INSR_DNA:g.172230G>A protEffect A1161T
KinMutBase_INSR_DNA:g.172230G>A mutType missense
KinMutBase_INSR_DNA:g.169575C>A protEffect A1075D
KinMutBase_INSR_DNA:g.169575C>A mutType missense
KinMutBase_FGFR3_DNA:g.12748A>C protEffect N540T
KinMutBase_FGFR3_DNA:g.12748A>C mutType missense
KinMutBase_FGFR3_DNA:g.12749C>G protEffect N540K
KinMutBase_FGFR3_DNA:g.12749C>G mutType missense
KinMutBase_FGFR3_DNA:g.12749C>A protEffect N540K
KinMutBase_FGFR3_DNA:g.12749C>A mutType missense
KinMutBase_FGFR3_DNA:g.13268A>T protEffect K650M
KinMutBase_FGFR3_DNA:g.13268A>T mutType missense
KinMutBase_FGFR3_DNA:g.13267A>G protEffect K650E
KinMutBase_FGFR3_DNA:g.13267A>G mutType missense
KinMutBase_FGFR3_DNA:g.12741A>G protEffect I538V
KinMutBase_FGFR3_DNA:g.12741A>G mutType missense
KinMutBase_CDK4_DNA:g.1072G>A protEffect R24H
KinMutBase_CDK4_DNA:g.1072G>A mutType missense
KinMutBase_CDK4_DNA:g.1071C>T protEffect R24C
KinMutBase_CDK4_DNA:g.1071C>T mutType missense
KinMutBase_CDK4_DNA:g.1123A>G protEffect N41S
KinMutBase_CDK4_DNA:g.1123A>G mutType missense
KinMutBase_ZAP70_DNA:g.14792C>A protEffect S518R
KinMutBase_ZAP70_DNA:g.14792C>A mutType missense
KinMutBase_ZAP70_DNA:g.14959A>A protEffect K542K
KinMutBase_ZAP70_DNA:g.14959A>A mutType missense
KinMutBase_ZAP70_DNA:g.14758C>T protEffect A507V
KinMutBase_ZAP70_DNA:g.14758C>T mutType missense
KinMutBase_ZAP70_DNA:g.15049A>T protEffect M572L
KinMutBase_ZAP70_DNA:g.15049A>T mutType missense
KinMutBase_ZAP70_DNA:g.14748delA protEffect K504X543
KinMutBase_ZAP70_DNA:g.14748delA mutType frameshift
KinMutBase_ZAP70_DNA:g.14948G>A protEffect 541_542insLEQ
KinMutBase_ZAP70_DNA:g.14948G>A mutType inframe
KinMutBase_ZAP70_DNA:g.14540C>T protEffect R465C
KinMutBase_ZAP70_DNA:g.14540C>T mutType missense
KinMutBase_U78027.1:g.68190A>C protEffect T606P
KinMutBase_U78027.1:g.68190A>C mutType missense
KinMutBase_U78027.1:g.64518A>T protEffect 384_384delins91
KinMutBase_U78027.1:g.64518A>T mutType loss
KinMutBase_U78027.1:g.66839T>C protEffect L542P
KinMutBase_U78027.1:g.66839T>C mutType missense
KinMutBase_U78027.1:g.71555T>C protEffect L648P
KinMutBase_U78027.1:g.71555T>C mutType missense
KinMutBase_U78027.1:g.65416G>A protEffect R520Q
KinMutBase_U78027.1:g.65416G>A mutType missense
KinMutBase_U78027.1:g.67537T>A protEffect V561D
KinMutBase_U78027.1:g.67537T>A mutType missense
KinMutBase_U78027.1:g.65232C>T protEffect Q459X
KinMutBase_U78027.1:g.65232C>T mutType nonsense
KinMutBase_U78027.1:g.68280G>T protEffect E636X
KinMutBase_U78027.1:g.68280G>T mutType nonsense
KinMutBase_U78027.1:g.67527A>T protEffect K558X
KinMutBase_U78027.1:g.67527A>T mutType nonsense
KinMutBase_U78027.1:g.66788G>A protEffect R525Q
KinMutBase_U78027.1:g.66788G>A mutType missense
KinMutBase_U78027.1:g.65390C>A protEffect Y511X
KinMutBase_U78027.1:g.65390C>A mutType nonsense
KinMutBase_U78027.1:g.65382A>G protEffect M509V
KinMutBase_U78027.1:g.65382A>G mutType missense
KinMutBase_U78027.1:g.67605G>T protEffect G584W
KinMutBase_U78027.1:g.67605G>T mutType missense
KinMutBase_U78027.1:g.65242G>A protEffect G462D
KinMutBase_U78027.1:g.65242G>A mutType missense
KinMutBase_U78027.1:g.65236T>A protEffect L460X
KinMutBase_U78027.1:g.65236T>A mutType nonsense
KinMutBase_U78027.1:g.68166T>G protEffect Y598D
KinMutBase_U78027.1:g.68166T>G mutType missense
KinMutBase_U78027.1:g.68184delA protEffect S604X648
KinMutBase_U78027.1:g.68184delA mutType frameshift
KinMutBase_U78027.1:g.68155G>A protEffect G594E
KinMutBase_U78027.1:g.68155G>A mutType missense
KinMutBase_U78027.1:g.65363C>G protEffect C502W
KinMutBase_U78027.1:g.65363C>G mutType missense
KinMutBase_U78027.1:g.67570_67571insT protEffect S572X579
KinMutBase_U78027.1:g.67570_67571insT mutType frameshift
KinMutBase_U78027.1:g.63920dupG protEffect 378_378delins21
KinMutBase_U78027.1:g.63920dupG mutType frameshift
KinMutBase_U78027.1:g.67600C>T protEffect A582V
KinMutBase_U78027.1:g.67600C>T mutType missense
KinMutBase_U78027.1:g.68229C>A protEffect P619T
KinMutBase_U78027.1:g.68229C>A mutType missense
KinMutBase_U78027.1:g.68242C>T protEffect S623L
KinMutBase_U78027.1:g.68242C>T mutType missense
KinMutBase_U78027.1:g.65374G>A protEffect C506Y
KinMutBase_U78027.1:g.65374G>A mutType missense
KinMutBase_U78027.1:g.64617C>A protEffect Y425X
KinMutBase_U78027.1:g.64617C>A mutType nonsense
KinMutBase_U78027.1:g.66793T>A protEffect C527S
KinMutBase_U78027.1:g.66793T>A mutType missense
KinMutBase_U78027.1:g.66795delT protEffect C527X529
KinMutBase_U78027.1:g.66795delT mutType frameshift
KinMutBase_U78027.1:g.65283T>G protEffect Y476D
KinMutBase_U78027.1:g.65283T>G mutType missense
KinMutBase_U78027.1:g.65253A>T protEffect K466X
KinMutBase_U78027.1:g.65253A>T mutType nonsense
KinMutBase_U78027.1:g.65213delT protEffect L452X483
KinMutBase_U78027.1:g.65213delT mutType frameshift
KinMutBase_U78027.1:g.64605G>A protEffect W421X
KinMutBase_U78027.1:g.64605G>A mutType nonsense
KinMutBase_U78027.1:g.68212G>A protEffect G613D
KinMutBase_U78027.1:g.68212G>A mutType missense
KinMutBase_U78027.1:g.65218A>G protEffect H454R
KinMutBase_U78027.1:g.65218A>G mutType missense
KinMutBase_U78027.1:g.66769_66772delTTTG protEffect A523X527
KinMutBase_U78027.1:g.66769_66772delTTTG mutType loss
KinMutBase_U78027.1:g.65388_65389insG protEffect Y511X
KinMutBase_U78027.1:g.65388_65389insG mutType nonsense
KinMutBase_U78027.1:g.67566delT protEffect Y571X586
KinMutBase_U78027.1:g.67566delT mutType frameshift
KinMutBase_U78027.1:g.67554G>A protEffect E567K
KinMutBase_U78027.1:g.67554G>A mutType missense
KinMutBase_U78027.1:g.68220C>T protEffect L616F
KinMutBase_U78027.1:g.68220C>T mutType missense
KinMutBase_U78027.1:g.67539C>T protEffect R562W
KinMutBase_U78027.1:g.67539C>T mutType missense
KinMutBase_U78027.1:g.66781delG protEffect A523X529
KinMutBase_U78027.1:g.66781delG mutType frameshift
KinMutBase_U78027.1:g.68261_68262insT protEffect M630X636
KinMutBase_U78027.1:g.68261_68262insT mutType frameshift
KinMutBase_U78027.1:g.65242G>T protEffect G462V
KinMutBase_U78027.1:g.65242G>T mutType missense
KinMutBase_U78027.1:g.68194C>A protEffect A607D
KinMutBase_U78027.1:g.68194C>A mutType missense
KinMutBase_U78027.1:g.65392T>C protEffect L512P
KinMutBase_U78027.1:g.65392T>C mutType missense
KinMutBase_U78027.1:g.66787C>T protEffect R525X
KinMutBase_U78027.1:g.66787C>T mutType nonsense
KinMutBase_U78027.1:g.67600delC protEffect A582X586
KinMutBase_U78027.1:g.67600delC mutType frameshift
KinMutBase_U78027.1:g.63962A>G protEffect G391G
KinMutBase_U78027.1:g.63962A>G mutType missense
KinMutBase_U78027.1:g.65373T>C protEffect C506R
KinMutBase_U78027.1:g.65373T>C mutType missense
KinMutBase_U78027.1:g.65368A>T protEffect D504V
KinMutBase_U78027.1:g.65368A>T mutType missense
KinMutBase_U78027.1:g.71534G>A protEffect R641H
KinMutBase_U78027.1:g.71534G>A mutType missense
KinMutBase_U78027.1:g.68258C>T protEffect T628T
KinMutBase_U78027.1:g.68258C>T mutType missense
KinMutBase_U78027.1:g.68266delA protEffect Y631X648
KinMutBase_U78027.1:g.68266delA mutType frameshift
KinMutBase_U78027.1:g.68275G>C protEffect W634S
KinMutBase_U78027.1:g.68275G>C mutType missense
KinMutBase_U78027.1:g.68140A>G protEffect E589G
KinMutBase_U78027.1:g.68140A>G mutType missense
KinMutBase_U78027.1:g.67603T>C protEffect F583S
KinMutBase_U78027.1:g.67603T>C mutType missense
KinMutBase_U78027.1:g.65212T>C protEffect L452P
KinMutBase_U78027.1:g.65212T>C mutType missense
KinMutBase_U78027.1:g.63968delT protEffect G393X409
KinMutBase_U78027.1:g.63968delT mutType gain
KinMutBase_U78027.1:g.68167A>G protEffect Y598C
KinMutBase_U78027.1:g.68167A>G mutType missense
KinMutBase_U78027.1:g.64569dupG protEffect T410X439
KinMutBase_U78027.1:g.64569dupG mutType frameshift
KinMutBase_U78027.1:g.66794G>T protEffect C527F
KinMutBase_U78027.1:g.66794G>T mutType missense
KinMutBase_U78027.1:g.64663G>T protEffect E441X
KinMutBase_U78027.1:g.64663G>T mutType nonsense
KinMutBase_U78027.1:g.66802delA protEffect N530X555
KinMutBase_U78027.1:g.66802delA mutType frameshift
KinMutBase_U78027.1:g.67598G>A protEffect W581X
KinMutBase_U78027.1:g.67598G>A mutType nonsense
KinMutBase_U78027.1:g.65374G>T protEffect C506F
KinMutBase_U78027.1:g.65374G>T mutType missense
KinMutBase_U78027.1:g.67548C>A protEffect P565T
KinMutBase_U78027.1:g.67548C>A mutType missense
KinMutBase_U78027.1:g.64630A>G protEffect K430E
KinMutBase_U78027.1:g.64630A>G mutType missense
KinMutBase_U78027.1:g.68137G>A protEffect W588X
KinMutBase_U78027.1:g.68137G>A mutType nonsense
KinMutBase_U78027.1:g.65384G>A protEffect M509I
KinMutBase_U78027.1:g.65384G>A mutType missense
KinMutBase_U78027.1:g.66846G>C protEffect R544X545
KinMutBase_U78027.1:g.66846G>C mutType gain
KinMutBase_U78027.1:g.68154G>C protEffect G594R
KinMutBase_U78027.1:g.68154G>C mutType missense
KinMutBase_U78027.1:g.71520_71521insT protEffect K637X
KinMutBase_U78027.1:g.71520_71521insT mutType nonsense
KinMutBase_U78027.1:g.71544C>A protEffect F644L
KinMutBase_U78027.1:g.71544C>A mutType missense
KinMutBase_U78027.1:g.65415C>T protEffect R520X
KinMutBase_U78027.1:g.65415C>T mutType nonsense
KinMutBase_U78027.1:g.67531T>C protEffect F559S
KinMutBase_U78027.1:g.67531T>C mutType missense
KinMutBase_U78027.1:g.68229C>T protEffect P619S
KinMutBase_U78027.1:g.68229C>T mutType missense
KinMutBase_U78027.1:g.67487G>T protEffect R544S
KinMutBase_U78027.1:g.67487G>T mutType missense
KinMutBase_U78027.1:g.66792C>G protEffect N526K
KinMutBase_U78027.1:g.66792C>G mutType missense
KinMutBase_U78027.1:g.71552T>G protEffect L647R
KinMutBase_U78027.1:g.71552T>G mutType missense
KinMutBase_U78027.1:g.63965C>A protEffect Y392X
KinMutBase_U78027.1:g.63965C>A mutType nonsense
KinMutBase_U78027.1:g.71537delC protEffect P642X648
KinMutBase_U78027.1:g.71537delC mutType frameshift
KinMutBase_U78027.1:g.67516C>G protEffect S554X
KinMutBase_U78027.1:g.67516C>G mutType nonsense
KinMutBase_U78027.1:g.68263T>A protEffect M630K
KinMutBase_U78027.1:g.68263T>A mutType missense
KinMutBase_U78027.1:g.68208delC protEffect Q612X648
KinMutBase_U78027.1:g.68208delC mutType frameshift
KinMutBase_U78027.1:g.68268delA protEffect S632X648
KinMutBase_U78027.1:g.68268delA mutType frameshift
KinMutBase_U78027.1:g.64630delA protEffect K430X431
KinMutBase_U78027.1:g.64630delA mutType frameshift
KinMutBase_U78027.1:g.67540G>C protEffect R562P
KinMutBase_U78027.1:g.67540G>C mutType missense
KinMutBase_U78027.1:g.68134T>C protEffect M587T
KinMutBase_U78027.1:g.68134T>C mutType missense
KinMutBase_U78027.1:g.66793delT protEffect C527X529
KinMutBase_U78027.1:g.66793delT mutType frameshift
KinMutBase_U78027.1:g.68238G>C protEffect A622P
KinMutBase_U78027.1:g.68238G>C mutType missense
KinMutBase_U78027.1:g.68186_68187insG protEffect E605X608
KinMutBase_U78027.1:g.68186_68187insG mutType frameshift
KinMutBase_U78027.1:g.63964dupA protEffect Y392X
KinMutBase_U78027.1:g.63964dupA mutType nonsense
KinMutBase_U78027.1:g.68172A>T protEffect R600X
KinMutBase_U78027.1:g.68172A>T mutType nonsense
KinMutBase_U78027.1:g.66779A>C protEffect A523X527
KinMutBase_U78027.1:g.66779A>C mutType deletion
KinMutBase_U78027.1:g.66844A>G protEffect R544G
KinMutBase_U78027.1:g.66844A>G mutType missense
KinMutBase_U78027.1:g.68272G>A protEffect C633Y
KinMutBase_U78027.1:g.68272G>A mutType missense
KinMutBase_U78027.1:g.67543G>T protEffect W563L
KinMutBase_U78027.1:g.67543G>T mutType missense
KinMutBase_U78027.1:g.65418G>A protEffect D521N
KinMutBase_U78027.1:g.65418G>A mutType missense
KinMutBase_U78027.1:g.68255_68256insC protEffect T628X636
KinMutBase_U78027.1:g.68255_68256insC mutType frameshift
KinMutBase_U78027.1:g.63945delT protEffect S386X402
KinMutBase_U78027.1:g.63945delT mutType frameshift
KinMutBase_U78027.1:g.68163C>A protEffect P597T
KinMutBase_U78027.1:g.68163C>A mutType missense
KinMutBase_U78027.1:g.67543G>A protEffect W563X
KinMutBase_U78027.1:g.67543G>A mutType nonsense
KinMutBase_U78027.1:g.66782C>A protEffect A523E
KinMutBase_U78027.1:g.66782C>A mutType missense
KinMutBase_U78027.1:g.63920_63921ins6 protEffect S378X397
KinMutBase_U78027.1:g.63920_63921ins6 mutType frameshift
KinMutBase_U78027.1:g.68223_68224insC protEffect Y617X636
KinMutBase_U78027.1:g.68223_68224insC mutType frameshift
KinMutBase_U78027.1:g.66828delT protEffect S538X555
KinMutBase_U78027.1:g.66828delT mutType frameshift
KinMutBase_U78027.1:g.65285delC protEffect Y476X
KinMutBase_U78027.1:g.65285delC mutType nonsense
KinMutBase_U78027.1:g.65382dupA protEffect M509X536
KinMutBase_U78027.1:g.65382dupA mutType frameshift
KinMutBase_U78027.1:g.71564delT protEffect I651X652
KinMutBase_U78027.1:g.71564delT mutType frameshift
KinMutBase_U78027.1:g.65419A>G protEffect D521G
KinMutBase_U78027.1:g.65419A>G mutType missense
KinMutBase_U78027.1:g.64565T>C protEffect L408P
KinMutBase_U78027.1:g.64565T>C mutType missense
KinMutBase_U78027.1:g.71567T>C protEffect L652P
KinMutBase_U78027.1:g.71567T>C mutType missense
KinMutBase_U78027.1:g.68208C>T protEffect Q612X
KinMutBase_U78027.1:g.68208C>T mutType nonsense
KinMutBase_U78027.1:g.66845G>A protEffect R544K
KinMutBase_U78027.1:g.66845G>A mutType missense
KinMutBase_U78027.1:g.71533C>T protEffect R641C
KinMutBase_U78027.1:g.71533C>T mutType missense
KinMutBase_U78027.1:g.68276G>A protEffect W634X
KinMutBase_U78027.1:g.68276G>A mutType nonsense
KinMutBase_U78027.1:g.65383T>C protEffect M509T
KinMutBase_U78027.1:g.65383T>C mutType missense
KinMutBase_U78027.1:g.65324delG protEffect 489_489delins11
KinMutBase_U78027.1:g.65324delG mutType frameshift
KinMutBase_U78027.1:g.63955dupG protEffect G389X398
KinMutBase_U78027.1:g.63955dupG mutType frameshift
KinMutBase_U78027.1:g.65287T>G protEffect M477R
KinMutBase_U78027.1:g.65287T>G mutType missense
KinMutBase_U78027.1:g.65346C>T protEffect Q497X
KinMutBase_U78027.1:g.65346C>T mutType nonsense
KinMutBase_U78027.1:g.67568dupT protEffect S572X
KinMutBase_U78027.1:g.67568dupT mutType nonsense
KinMutBase_U78027.1:g.68251T>G protEffect V626G
KinMutBase_U78027.1:g.68251T>G mutType missense
KinMutBase_U78027.1:g.67553delG protEffect P566X569
KinMutBase_U78027.1:g.67553delG mutType frameshift
KinMutBase_U78027.1:g.68265delT protEffect Y631X648
KinMutBase_U78027.1:g.68265delT mutType frameshift
KinMutBase_U78027.1:g.64677A>C protEffect E445D
KinMutBase_U78027.1:g.64677A>C mutType missense
KinMutBase_U78027.1:g.71543T>C protEffect F644S
KinMutBase_U78027.1:g.71543T>C mutType missense
KinMutBase_U78027.1:g.63934A>T protEffect K382M
KinMutBase_U78027.1:g.63934A>T mutType missense
KinMutBase_U78027.1:g.64697T>G protEffect M450X451
KinMutBase_U78027.1:g.64697T>G mutType gain
KinMutBase_U78027.1:g.65359T>C protEffect M501T
KinMutBase_U78027.1:g.65359T>C mutType missense
KinMutBase_U78027.1:g.67610G>A protEffect E599_T628del
KinMutBase_U78027.1:g.67610G>A mutType loss
KinMutBase_U78027.1:g.66780_66781insA protEffect A523X536
KinMutBase_U78027.1:g.66780_66781insA mutType frameshift
KinMutBase_U78027.1:g.64582G>A protEffect G414R
KinMutBase_U78027.1:g.64582G>A mutType missense
KinMutBase_U78027.1:g.68147C>A protEffect Y591X
KinMutBase_U78027.1:g.68147C>A mutType nonsense
KinMutBase_U78027.1:g.66787C>G protEffect R525G
KinMutBase_U78027.1:g.66787C>G mutType missense
KinMutBase_U78027.1:g.67523delC protEffect G556X569
KinMutBase_U78027.1:g.67523delC mutType frameshift
KinMutBase_U78027.1:g.65415C>G protEffect R520G
KinMutBase_U78027.1:g.65415C>G mutType missense
KinMutBase_U78027.1:g.67549C>T protEffect P565L
KinMutBase_U78027.1:g.67549C>T mutType missense
KinMutBase_U78027.1:g.65410T>G protEffect L518R
KinMutBase_U78027.1:g.65410T>G mutType missense
KinMutBase_U78027.1:g.68263T>C protEffect M630T
KinMutBase_U78027.1:g.68263T>C mutType missense
KinMutBase_U78027.1:g.67580C>A protEffect S575R
KinMutBase_U78027.1:g.67580C>A mutType missense
KinMutBase_U78027.1:g.65333delC protEffect R492X499
KinMutBase_U78027.1:g.65333delC mutType frameshift
KinMutBase_U78027.1:g.68279dupT protEffect E636X
KinMutBase_U78027.1:g.68279dupT mutType nonsense
KinMutBase_U78027.1:g.64545delC protEffect D401X402
KinMutBase_U78027.1:g.64545delC mutType frameshift
KinMutBase_U78027.1:g.68220delC protEffect L616X648
KinMutBase_U78027.1:g.68220delC mutType frameshift
KinMutBase_U78027.1:g.67596T>C protEffect W581R
KinMutBase_U78027.1:g.67596T>C mutType missense
KinMutBase_U78027.1:g.67551C>T protEffect P566S
KinMutBase_U78027.1:g.67551C>T mutType missense
KinMutBase_U78027.1:g.66826T>C protEffect S538P
KinMutBase_U78027.1:g.66826T>C mutType missense
KinMutBase_U78027.1:g.68253T>C protEffect Y627H
KinMutBase_U78027.1:g.68253T>C mutType missense
KinMutBase_U78027.1:g.64628T>A protEffect I429N
KinMutBase_U78027.1:g.64628T>A mutType missense
KinMutBase_U78027.1:g.65323delT protEffect 489_489delins11
KinMutBase_U78027.1:g.65323delT mutType frameshift
KinMutBase_U78027.1:g.66824T>A protEffect V537E
KinMutBase_U78027.1:g.66824T>A mutType missense
KinMutBase_U78027.1:g.66788G>C protEffect R525P
KinMutBase_U78027.1:g.66788G>C mutType missense
KinMutBase_U78027.1:g.68209A>C protEffect Q612P
KinMutBase_U78027.1:g.68209A>C mutType missense
KinMutBase_U78027.1:g.63924C>T protEffect Q379X
KinMutBase_U78027.1:g.63924C>T mutType nonsense
KinMutBase_U78027.1:g.66811delG protEffect G533X555
KinMutBase_U78027.1:g.66811delG mutType frameshift
KinMutBase_U78027.1:g.66836G>A protEffect G541D
KinMutBase_U78027.1:g.66836G>A mutType missense
KinMutBase_U78027.1:g.68278delA protEffect H635X648
KinMutBase_U78027.1:g.68278delA mutType frameshift
KinMutBase_U78027.1:g.65362G>T protEffect C502F
KinMutBase_U78027.1:g.65362G>T mutType missense
KinMutBase_U78027.1:g.65314T>C protEffect L486P
KinMutBase_U78027.1:g.65314T>C mutType missense
KinMutBase_U78027.1:g.68142delA protEffect I590X648
KinMutBase_U78027.1:g.68142delA mutType frameshift
KinMutBase_U78027.1:g.68148T>C protEffect S592P
KinMutBase_U78027.1:g.68148T>C mutType missense
KinMutBase_U78027.1:g.68149C>A protEffect S592Y
KinMutBase_U78027.1:g.68149C>A mutType missense
KinMutBase_U78027.1:g.65312C>A protEffect Y485X
KinMutBase_U78027.1:g.65312C>A mutType nonsense
KinMutBase_U78027.1:g.68237delG protEffect L621X648
KinMutBase_U78027.1:g.68237delG mutType frameshift
KinMutBase_U78027.1:g.68141A>T protEffect E589D
KinMutBase_U78027.1:g.68141A>T mutType missense
KinMutBase_U78027.1:g.64631A>G protEffect K430R
KinMutBase_U78027.1:g.64631A>G mutType missense
KinMutBase_U78027.1:g.68154G>A protEffect G594R
KinMutBase_U78027.1:g.68154G>A mutType missense
KinMutBase_U78027.1:g.68202_68203insC protEffect I610X636
KinMutBase_U78027.1:g.68202_68203insC mutType frameshift
KinMutBase_U78027.1:g.67605delG protEffect G584X586
KinMutBase_U78027.1:g.67605delG mutType frameshift
KinMutBase_U78027.1:g.68229C>G protEffect P619A
KinMutBase_U78027.1:g.68229C>G mutType missense
KinMutBase_U78027.1:g.68133A>C protEffect M587L
KinMutBase_U78027.1:g.68133A>C mutType missense
KinMutBase_U78027.1:g.65363C>A protEffect C502X
KinMutBase_U78027.1:g.65363C>A mutType nonsense
KinMutBase_U78027.1:g.67561T>C protEffect L569P
KinMutBase_U78027.1:g.67561T>C mutType missense
KinMutBase_U78027.1:g.64594T>C protEffect Y418H
KinMutBase_U78027.1:g.64594T>C mutType missense
KinMutBase_U78027.1:g.64692G>T protEffect G393X426
KinMutBase_U78027.1:g.64692G>T mutType loss
KinMutBase_U78027.1:g.65418G>C protEffect D521H
KinMutBase_U78027.1:g.65418G>C mutType missense
KinMutBase_MERTK_DNA:g.110731C>T protEffect R651X
KinMutBase_MERTK_DNA:g.110731C>T mutType nonsense
KinMutBase_MERTK_DNA:g.112322delA protEffect T690X701
KinMutBase_MERTK_DNA:g.112322delA mutType frameshift
KinMutBase_KIT_DNA:g.76079A>G protEffect R796G
KinMutBase_KIT_DNA:g.76079A>G mutType missense
KinMutBase_KIT_DNA:g.79537A>C protEffect T847P
KinMutBase_KIT_DNA:g.79537A>C mutType missense
KinMutBase_KIT_DNA:g.76139G>C protEffect D816H
KinMutBase_KIT_DNA:g.76139G>C mutType missense
KinMutBase_KIT_DNA:g.71040delA protEffect K642X644
KinMutBase_KIT_DNA:g.71040delA mutType frameshift
KinMutBase_KIT_DNA:g.76064A>G protEffect R791G
KinMutBase_KIT_DNA:g.76064A>G mutType missense
KinMutBase_KIT_DNA:g.76128G>T protEffect G812V
KinMutBase_KIT_DNA:g.76128G>T mutType missense
KinMutBase_KIT_DNA:g.76139G>T protEffect D816Y
KinMutBase_KIT_DNA:g.76139G>T mutType missense
KinMutBase_KIT_DNA:g.79787delA protEffect E893X902
KinMutBase_KIT_DNA:g.79787delA mutType frameshift
KinMutBase_FGFR3_DNA:g.12748A>G protEffect N540S
KinMutBase_FGFR3_DNA:g.12748A>G mutType missense
KinMutBase_FGFR3_DNA:g.13269G>T protEffect K650N
KinMutBase_FGFR3_DNA:g.13269G>T mutType missense
KinMutBase_FGFR3_DNA:g.13269G>C protEffect K650N
KinMutBase_FGFR3_DNA:g.13269G>C mutType missense
KinMutBase_FGFR3_DNA:g.13267A>C protEffect K650Q
KinMutBase_FGFR3_DNA:g.13267A>C mutType missense
KinMutBase_ROR2_DNA:g.226829G>A protEffect W720X
KinMutBase_ROR2_DNA:g.226829G>A mutType nonsense
KinMutBase_ROR2_DNA:g.226529T>A protEffect N620K
KinMutBase_ROR2_DNA:g.226529T>A mutType missense
KinMutBase_ROR2_DNA:g.226173C>T protEffect Q502X
KinMutBase_ROR2_DNA:g.226173C>T mutType nonsense
KinMutBase_CHEK2_DNA:g.49841delC protEffect T367X381
KinMutBase_CHEK2_DNA:g.49841delC mutType frameshift
KinMutBase_CHEK2_DNA:g.51639delT protEffect R474X481
KinMutBase_CHEK2_DNA:g.51639delT mutType frameshift
KinMutBase_FLT4_DNA:g.30803G>A protEffect G857R
KinMutBase_FLT4_DNA:g.30803G>A mutType missense
KinMutBase_FLT4_DNA:g.34082G>C protEffect R1041P
KinMutBase_FLT4_DNA:g.34082G>C mutType missense
KinMutBase_FLT4_DNA:g.34091T>C protEffect L1044P
KinMutBase_FLT4_DNA:g.34091T>C mutType missense
KinMutBase_FLT4_DNA:g.37445C>T protEffect P1114L
KinMutBase_FLT4_DNA:g.37445C>T mutType missense
KinMutBase_FLT4_DNA:g.34064A>G protEffect H1035R
KinMutBase_FLT4_DNA:g.34064A>G mutType missense
KinMutBase_STK11_DNA:g.13439G>C protEffect G135R
KinMutBase_STK11_DNA:g.13439G>C mutType missense
KinMutBase_STK11_DNA:g.14576A>T protEffect D194V
KinMutBase_STK11_DNA:g.14576A>T mutType missense
KinMutBase_STK11_DNA:g.12534delC protEffect H107X128
KinMutBase_STK11_DNA:g.12534delC mutType frameshift
KinMutBase_STK11_DNA:g.12536A>G protEffect K108R
KinMutBase_STK11_DNA:g.12536A>G mutType missense
KinMutBase_STK11_DNA:g.15332A>C protEffect E256A
KinMutBase_STK11_DNA:g.15332A>C mutType missense
KinMutBase_STK11_DNA:g.14764T>C protEffect S232P
KinMutBase_STK11_DNA:g.14764T>C mutType missense
KinMutBase_STK11_DNA:g.16063G>A protEffect R297K
KinMutBase_STK11_DNA:g.16063G>A mutType missense
KinMutBase_STK11_DNA:g.14575G>A protEffect D194N
KinMutBase_STK11_DNA:g.14575G>A mutType missense
KinMutBase_STK11_DNA:g.1157dupG protEffect D53X162
KinMutBase_STK11_DNA:g.1157dupG mutType frameshift
KinMutBase_ACVRL1_DNA:g.3976G>T protEffect S333I
KinMutBase_ACVRL1_DNA:g.3976G>T mutType missense
KinMutBase_ACVRL1_DNA:g.3902C>A protEffect C308X
KinMutBase_ACVRL1_DNA:g.3902C>A mutType nonsense
KinMutBase_ACVRL1_DNA:g.3842dupT protEffect L289X391
KinMutBase_ACVRL1_DNA:g.3842dupT mutType frameshift
KinMutBase_JAK3_DNA:g.14105G>A protEffect V722I
KinMutBase_JAK3_DNA:g.14105G>A mutType missense
KinMutBase_JAK3_DNA:g.11054C>A protEffect C565X
KinMutBase_JAK3_DNA:g.11054C>A mutType nonsense
KinMutBase_HSU70065:g.9454T>C protEffect 734_784delins61
KinMutBase_HSU70065:g.9454T>C mutType frameshift
KinMutBase_JAK3_DNA:g.14346T>C protEffect C759R
KinMutBase_JAK3_DNA:g.14346T>C mutType missense
KinMutBase_JAK3_DNA:g.11843G>T protEffect G589V
KinMutBase_JAK3_DNA:g.11843G>T mutType missense
KinMutBase_JAK3_DNA:g.11821C>T protEffect R582W
KinMutBase_JAK3_DNA:g.11821C>T mutType missense
KinMutBase_JAK3_DNA:g.18465delC protEffect C1024X1037
KinMutBase_JAK3_DNA:g.18465delC mutType frameshift
KinMutBase_JAK3_DNA:g.17242T>C protEffect L910S
KinMutBase_JAK3_DNA:g.17242T>C mutType missense
KinMutBase_JAK3_DNA:g.18462C>A protEffect Y1023X
KinMutBase_JAK3_DNA:g.18462C>A mutType nonsense
KinMutBase_RPS6KA3_DNA:g.58324A>C protEffect L74F
KinMutBase_RPS6KA3_DNA:g.58324A>C mutType missense
KinMutBase_RPS6KA3_DNA:g.58340G>A protEffect G80R
KinMutBase_RPS6KA3_DNA:g.58340G>A mutType missense
KinMutBase_RPS6KA3_DNA:g.72502C>T protEffect R114W
KinMutBase_RPS6KA3_DNA:g.72502C>T mutType missense
KinMutBase_RPS6KA3_DNA:g.72518G>C protEffect R119P
KinMutBase_RPS6KA3_DNA:g.72518G>C mutType missense
KinMutBase_RPS6KA3_DNA:g.74119T>A protEffect I189K
KinMutBase_RPS6KA3_DNA:g.74119T>A mutType missense
KinMutBase_RPS6KA3_DNA:g.74130G>A protEffect D193N
KinMutBase_RPS6KA3_DNA:g.74130G>A mutType missense
KinMutBase_RPS6KA3_DNA:g.79723C>T protEffect T231I
KinMutBase_RPS6KA3_DNA:g.79723C>T mutType missense
KinMutBase_RPS6KA3_DNA:g.58307G>T protEffect E69X
KinMutBase_RPS6KA3_DNA:g.58307G>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.81297C>T protEffect Q269X
KinMutBase_RPS6KA3_DNA:g.81297C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.79758C>T protEffect R243X
KinMutBase_RPS6KA3_DNA:g.79758C>T mutType nonsense
KinMutBase_RPS6KA3_DNA:g.90635T>A protEffect L311X
KinMutBase_RPS6KA3_DNA:g.90635T>A mutType nonsense
KinMutBase_RPS6KA3_DNA:g.94887G>C protEffect K451N
KinMutBase_RPS6KA3_DNA:g.94887G>C mutType missense
KinMutBase_RPS6KA3_DNA:g.98188T>G protEffect L467R
KinMutBase_RPS6KA3_DNA:g.98188T>G mutType missense
KinMutBase_RPS6KA3_DNA:g.98211A>G protEffect N475D
KinMutBase_RPS6KA3_DNA:g.98211A>G mutType missense
KinMutBase_RPS6KA3_DNA:g.99917T>G protEffect V492G
KinMutBase_RPS6KA3_DNA:g.99917T>G mutType missense
KinMutBase_RPS6KA3_DNA:g.99929T>G protEffect M496R
KinMutBase_RPS6KA3_DNA:g.99929T>G mutType missense
KinMutBase_RPS6KA3_DNA:g.102580A>T protEffect H537L
KinMutBase_RPS6KA3_DNA:g.102580A>T mutType missense
KinMutBase_RPS6KA3_DNA:g.102602C>A protEffect N544K
KinMutBase_RPS6KA3_DNA:g.102602C>A mutType missense
KinMutBase_RPS6KA3_DNA:g.102729C>T protEffect P587S
KinMutBase_RPS6KA3_DNA:g.102729C>T mutType missense
KinMutBase_RPS6KA3_DNA:g.105888A>G protEffect N620D
KinMutBase_RPS6KA3_DNA:g.105888A>G mutType missense
KinMutBase_RPS6KA3_DNA:g.102669C>T protEffect Q567X
KinMutBase_RPS6KA3_DNA:g.102669C>T mutType nonsense
KinMutBase_TEK_DNA:g.55887A>C protEffect Y897S
KinMutBase_TEK_DNA:g.55887A>C mutType missense
KinMutBase_NTRK1_DNA:g.16208G>A protEffect G516R
KinMutBase_NTRK1_DNA:g.16208G>A mutType missense
KinMutBase_NTRK1_DNA:g.16637C>T protEffect R596X
KinMutBase_NTRK1_DNA:g.16637C>T mutType nonsense
KinMutBase_NTRK1_DNA:g.19342C>T protEffect R648C
KinMutBase_NTRK1_DNA:g.19342C>T mutType missense
KinMutBase_NTRK1_DNA:g.19402G>T protEffect D668Y
KinMutBase_NTRK1_DNA:g.19402G>T mutType missense
KinMutBase_NTRK1_DNA:g.21645dupT protEffect 771_771delins90
KinMutBase_NTRK1_DNA:g.21645dupT mutType frameshift
KinMutBase_NTRK1_DNA:g.21656G>C protEffect R774P
KinMutBase_NTRK1_DNA:g.21656G>C mutType missense
KinMutBase_NTRK1_DNA:g.20102C>T protEffect P689L
KinMutBase_NTRK1_DNA:g.20102C>T mutType missense
KinMutBase_NTRK1_DNA:g.19242_19243insT protEffect P615X626
KinMutBase_NTRK1_DNA:g.19242_19243insT mutType frameshift
KinMutBase_AY186092.1:g.21175C>T protEffect Q293X
KinMutBase_AY186092.1:g.21175C>T mutType nonsense
KinMutBase_AY186092.1:g.20671delT protEffect L274X287
KinMutBase_AY186092.1:g.20671delT mutType frameshift
KinMutBase_AY186092.1:g.15978delA protEffect N207X212
KinMutBase_AY186092.1:g.15978delA mutType frameshift
KinMutBase_RET_DNA:g.42326T>G protEffect S767R
KinMutBase_RET_DNA:g.42326T>G mutType missense
KinMutBase_RET_DNA:g.44028G>A protEffect R873Q
KinMutBase_RET_DNA:g.44028G>A mutType missense
KinMutBase_RET_DNA:g.44087T>C protEffect F893L
KinMutBase_RET_DNA:g.44087T>C mutType missense
KinMutBase_RET_DNA:g.44129A>G protEffect K907E
KinMutBase_RET_DNA:g.44129A>G mutType missense
KinMutBase_RET_DNA:g.47745T>C protEffect M980T
KinMutBase_RET_DNA:g.47745T>C mutType missense
KinMutBase_RET_DNA:g.45913G>A protEffect E921K
KinMutBase_RET_DNA:g.45913G>A mutType missense
KinMutBase_RET_DNA:g.40584G>A protEffect E734K
KinMutBase_RET_DNA:g.40584G>A mutType missense
KinMutBase_RET_DNA:g.47632G>C protEffect W942C
KinMutBase_RET_DNA:g.47632G>C mutType missense
KinMutBase_RET_DNA:g.47711C>T protEffect R969W
KinMutBase_RET_DNA:g.47711C>T mutType missense
KinMutBase_RET_DNA:g.44062G>C protEffect E884D
KinMutBase_RET_DNA:g.44062G>C mutType missense
KinMutBase_RET_DNA:g.42336G>A protEffect D771N
KinMutBase_RET_DNA:g.42336G>A mutType missense
KinMutBase_RET_DNA:g.43513G>A protEffect R813Q
KinMutBase_RET_DNA:g.43513G>A mutType missense
KinMutBase_RET_DNA:g.45917C>T protEffect S922F
KinMutBase_RET_DNA:g.45917C>T mutType missense
KinMutBase_STK11_DNA:g.17075G>T protEffect W308C
KinMutBase_STK11_DNA:g.17075G>T mutType missense
KinMutBase_STK11_DNA:g.14521G>A protEffect D176N
KinMutBase_STK11_DNA:g.14521G>A mutType missense
KinMutBase_STK11_DNA:g.14569dupA protEffect I192X265
KinMutBase_STK11_DNA:g.14569dupA mutType frameshift
KinMutBase_STK11_DNA:g.16076delG protEffect R301X335
KinMutBase_STK11_DNA:g.16076delG mutType frameshift
KinMutBase_STK11_DNA:g.1158delA protEffect 53_53delins11
KinMutBase_STK11_DNA:g.1158delA mutType frameshift
KinMutBase_STK11_DNA:g.14465T>C protEffect F157S
KinMutBase_STK11_DNA:g.14465T>C mutType missense
KinMutBase_STK11_DNA:g.13490C>T protEffect Q152X
KinMutBase_STK11_DNA:g.13490C>T mutType nonsense
KinMutBase_STK11_DNA:g.14536A>T protEffect N181Y
KinMutBase_STK11_DNA:g.14536A>T mutType missense
KinMutBase_STK11_DNA:g.17074G>A protEffect W308X
KinMutBase_STK11_DNA:g.17074G>A mutType nonsense
KinMutBase_STK11_DNA:g.14728C>T protEffect Q220X
KinMutBase_STK11_DNA:g.14728C>T mutType nonsense
KinMutBase_MET_DNA:g.111970T>G protEffect Y1235D
KinMutBase_MET_DNA:g.111970T>G mutType missense
KinMutBase_MET_DNA:g.107549C>T protEffect T1173I
KinMutBase_MET_DNA:g.107549C>T mutType missense
KinMutBase_MET_DNA:g.112017G>A protEffect M1250I
KinMutBase_MET_DNA:g.112017G>A mutType missense
KinMutBase_MET_DNA:g.111998A>G protEffect K1244R
KinMutBase_MET_DNA:g.111998A>G mutType missense
KinMutBase_MET_DNA:g.106006A>G protEffect H1094R
KinMutBase_MET_DNA:g.106006A>G mutType missense
KinMutBase_MET_DNA:g.106005C>T protEffect H1094Y
KinMutBase_MET_DNA:g.106005C>T mutType missense
KinMutBase_MET_DNA:g.106041C>G protEffect H1106D
KinMutBase_MET_DNA:g.106041C>G mutType missense
KinMutBase_MET_DNA:g.105999G>A protEffect V1092I
KinMutBase_MET_DNA:g.105999G>A mutType missense
KinMutBase_KIT_DNA:g.79513G>A protEffect E839K
KinMutBase_KIT_DNA:g.79513G>A mutType missense
KinMutBase_RET_DNA:g.44057G>T protEffect A883S
KinMutBase_RET_DNA:g.44057G>T mutType missense
KinMutBase_RHOK_DNA:g.1001C>T protEffect T298M
KinMutBase_RHOK_DNA:g.1001C>T mutType missense
KinMutBase_RHOK_DNA:g.1097A>G protEffect N330S
KinMutBase_RHOK_DNA:g.1097A>G mutType missense
KinMutBase_RHOK_DNA:g.1421G>A protEffect R438H
KinMutBase_RHOK_DNA:g.1421G>A mutType missense
KinMutBase_CHEK2_DNA:g.33724G>T protEffect E239X
KinMutBase_CHEK2_DNA:g.33724G>T mutType nonsense
KinMutBase_CHEK2_DNA:g.33724G>A protEffect E239K
KinMutBase_CHEK2_DNA:g.33724G>A mutType missense
KinMutBase_CHEK2_DNA:g.33760A>T protEffect I251F
KinMutBase_CHEK2_DNA:g.33760A>T mutType missense
KinMutBase_CHEK2_DNA:g.45817G>A protEffect R318H
KinMutBase_CHEK2_DNA:g.45817G>A mutType missense
KinMutBase_CHEK2_DNA:g.45831A>C protEffect T323P
KinMutBase_CHEK2_DNA:g.45831A>C mutType missense
KinMutBase_CHEK2_DNA:g.45844A>G protEffect Y327C
KinMutBase_CHEK2_DNA:g.45844A>G mutType missense
KinMutBase_CHEK2_DNA:g.51644C>A protEffect T476K
KinMutBase_CHEK2_DNA:g.51644C>A mutType missense
KinMutBase_FGFR1_DNA:g.55008T>A protEffect W666R
KinMutBase_FGFR1_DNA:g.55008T>A mutType missense
KinMutBase_KIT_DNA:g.76159T>A protEffect N822K
KinMutBase_KIT_DNA:g.76159T>A mutType missense
KinMutBase_KIT_DNA:g.76160T>G protEffect Y823D
KinMutBase_KIT_DNA:g.76160T>G mutType missense
KinMutBase_KIT_DNA:g.76161A>G protEffect Y823C
KinMutBase_KIT_DNA:g.76161A>G mutType missense
KinMutBase_KIT_DNA:g.76095C>T protEffect T801I
KinMutBase_KIT_DNA:g.76095C>T mutType missense
KinMutBase_KIT_DNA:g.71040A>C protEffect K642Q
KinMutBase_KIT_DNA:g.71040A>C mutType missense
KinMutBase_KIT_DNA:g.76151G>T protEffect D820Y
KinMutBase_KIT_DNA:g.76151G>T mutType missense
KinMutBase_KIT_DNA:g.71040A>G protEffect K642E
KinMutBase_KIT_DNA:g.71040A>G mutType missense
KinMutBase_KIT_DNA:g.76157A>C protEffect N822H
KinMutBase_KIT_DNA:g.76157A>C mutType missense
KinMutBase_KIT_DNA:g.74314delA protEffect S715X724
KinMutBase_KIT_DNA:g.74314delA mutType frameshift
KinMutBase_KIT_DNA:g.72437delA protEffect Y703X724
KinMutBase_KIT_DNA:g.72437delA mutType frameshift
KinMutBase_KIT_DNA:g.76137G>A protEffect R815K
KinMutBase_KIT_DNA:g.76137G>A mutType missense
KinMutBase_FGFR3_DNA:g.13268A>C protEffect K650T
KinMutBase_FGFR3_DNA:g.13268A>C mutType missense
KinMutBase_FGFR2_DNA:g.100882A>C protEffect N549H
KinMutBase_FGFR2_DNA:g.100882A>C mutType missense
KinMutBase_FGFR2_DNA:g.102703A>G protEffect E565G
KinMutBase_FGFR2_DNA:g.102703A>G mutType missense
KinMutBase_FGFR2_DNA:g.111349A>G protEffect K641R
KinMutBase_FGFR2_DNA:g.111349A>G mutType missense
KinMutBase_FGFR2_DNA:g.111404G>T protEffect K659N
KinMutBase_FGFR2_DNA:g.111404G>T mutType missense
KinMutBase_FGFR2_DNA:g.111981G>A protEffect G663E
KinMutBase_FGFR2_DNA:g.111981G>A mutType missense
KinMutBase_FGFR2_DNA:g.112025A>G protEffect R678G
KinMutBase_FGFR2_DNA:g.112025A>G mutType missense
KinMutBase_INSR_DNA:g.169455G>T protEffect G1035V
KinMutBase_INSR_DNA:g.169455G>T mutType missense
KinMutBase_INSR_DNA:g.169515C>T protEffect A1055V
KinMutBase_INSR_DNA:g.169515C>T mutType missense
KinMutBase_INSR_DNA:g.171999C>T protEffect R1119W
KinMutBase_INSR_DNA:g.171999C>T mutType missense
KinMutBase_INSR_DNA:g.172177T>C protEffect I1143T
KinMutBase_INSR_DNA:g.172177T>C mutType missense
KinMutBase_INSR_DNA:g.172221C>T protEffect R1158W
KinMutBase_INSR_DNA:g.172221C>T mutType missense
KinMutBase_INSR_DNA:g.174214C>T protEffect R1201W
KinMutBase_INSR_DNA:g.174214C>T mutType missense
KinMutBase_INSR_DNA:g.174229G>A protEffect E1206K
KinMutBase_INSR_DNA:g.174229G>A mutType missense
KinMutBase_RET_DNA:g.43606G>T protEffect R844L
KinMutBase_RET_DNA:g.43606G>T mutType missense
KinMutBase_RET_DNA:g.48824C>T protEffect R982C
KinMutBase_RET_DNA:g.48824C>T mutType missense
KinMutBase_RHOK_DNA:g.1247T>A protEffect V380D
KinMutBase_RHOK_DNA:g.1247T>A mutType missense
KinMutBase_U29700:g.7064delC protEffect L444X480
KinMutBase_U29700:g.7064delC mutType frameshift
KinMutBase_U29700:g.2790T>G protEffect H282Q
KinMutBase_U29700:g.2790T>G mutType missense
KinMutBase_U29700:g.6844A>G protEffect D426G
KinMutBase_U29700:g.6844A>G mutType missense
KinMutBase_U29700:g.7107T>C protEffect V458A
KinMutBase_U29700:g.7107T>C mutType missense
KinMutBase_U29700:g.8101G>C protEffect D491H
KinMutBase_U29700:g.8101G>C mutType missense
KinMutBase_U29700:g.8140C>T protEffect R504C
KinMutBase_U29700:g.8140C>T mutType missense
KinMutBase_U29700:g.6784G>A protEffect R406Q
KinMutBase_U29700:g.6784G>A mutType missense
KinMutBase_BMPR2_DNA:g.142357C>T protEffect R211X
KinMutBase_BMPR2_DNA:g.142357C>T mutType nonsense
KinMutBase_BMPR2_DNA:g.142415delA protEffect K230X251
KinMutBase_BMPR2_DNA:g.142415delA mutType frameshift
KinMutBase_BMPR2_DNA:g.142453G>T protEffect E243X
KinMutBase_BMPR2_DNA:g.142453G>T mutType nonsense
KinMutBase_BMPR2_DNA:g.154346C>T protEffect R332X
KinMutBase_BMPR2_DNA:g.154346C>T mutType nonsense
KinMutBase_BMPR2_DNA:g.154428delC protEffect T359X374
KinMutBase_BMPR2_DNA:g.154428delC mutType frameshift
KinMutBase_BMPR2_DNA:g.156173delT protEffect C397X401
KinMutBase_BMPR2_DNA:g.156173delT mutType frameshift
KinMutBase_BMPR2_DNA:g.156240T>C protEffect C420R
KinMutBase_BMPR2_DNA:g.156240T>C mutType missense
KinMutBase_BMPR2_DNA:g.176299C>T protEffect R491W
KinMutBase_BMPR2_DNA:g.176299C>T mutType missense
KinMutBase_BMPR2_DNA:g.154451delG protEffect G367X374
KinMutBase_BMPR2_DNA:g.154451delG mutType frameshift
KinMutBase_BMPR2_DNA:g.176300G>A protEffect R491Q
KinMutBase_BMPR2_DNA:g.176300G>A mutType missense
KinMutBase_BMPR2_DNA:g.142416A>T protEffect K230N
KinMutBase_BMPR2_DNA:g.142416A>T mutType missense
KinMutBase_BMPR2_DNA:g.176282A>G protEffect D485G
KinMutBase_BMPR2_DNA:g.176282A>G mutType missense
KinMutBase_BMPR2_DNA:g.154392G>A protEffect C347Y
KinMutBase_BMPR2_DNA:g.154392G>A mutType missense
KinMutBase_BMPR2_DNA:g.142512dupT protEffect G263X265
KinMutBase_BMPR2_DNA:g.142512dupT mutType frameshift
KinMutBase_BMPR2_DNA:g.156230delA protEffect I416X418
KinMutBase_BMPR2_DNA:g.156230delA mutType frameshift
KinMutBase_BMPR2_DNA:g.156228_156229insG protEffect I416X447
KinMutBase_BMPR2_DNA:g.156228_156229insG mutType frameshift
KinMutBase_BMPR2_DNA:g.176275T>C protEffect C483R
KinMutBase_BMPR2_DNA:g.176275T>C mutType missense
KinMutBase_BMPR1A_DNA:g.161628C>T protEffect R273X
KinMutBase_BMPR1A_DNA:g.161628C>T mutType nonsense
KinMutBase_BMPR1A_DNA:g.163737C>T protEffect R361X
KinMutBase_BMPR1A_DNA:g.163737C>T mutType nonsense
KinMutBase_BMPR1A_DNA:g.163669C>A protEffect A338D
KinMutBase_BMPR1A_DNA:g.163669C>A mutType missense
KinMutBase_BMPR1A_DNA:g.163783G>A protEffect C376Y
KinMutBase_BMPR1A_DNA:g.163783G>A mutType missense
KinMutBase_BMPR1A_DNA:g.161526C>T protEffect Q239X
KinMutBase_BMPR1A_DNA:g.161526C>T mutType nonsense
KinMutBase_BMPR1A_DNA:g.161623G>A protEffect W271X
KinMutBase_BMPR1A_DNA:g.161623G>A mutType nonsense
KinMutBase_BMPR1A_DNA:g.163617delC protEffect L321X
KinMutBase_BMPR1A_DNA:g.163617delC mutType nonsense
KinMutBase_BMPR1A_DNA:g.161595delG protEffect 262_262delins21
KinMutBase_BMPR1A_DNA:g.161595delG mutType frameshift
KinMutBase_BMPR1A_DNA:g.161637delG protEffect E276X282
KinMutBase_BMPR1A_DNA:g.161637delG mutType frameshift
KinMutBase_RET_DNA:g.42329G>T protEffect E768D
KinMutBase_RET_DNA:g.42329G>T mutType missense
KinMutBase_RET_DNA:g.43485G>C protEffect V804L
KinMutBase_RET_DNA:g.43485G>C mutType missense
KinMutBase_RET_DNA:g.42410C>A protEffect S795R
KinMutBase_RET_DNA:g.42410C>A mutType missense
KinMutBase_RET_DNA:g.45916T>C protEffect S922P
KinMutBase_RET_DNA:g.45916T>C mutType missense
KinMutBase_RET_DNA:g.45941C>T protEffect T930M
KinMutBase_RET_DNA:g.45941C>T mutType missense
KinMutBase_RET_DNA:g.43620G>A protEffect G849S
KinMutBase_RET_DNA:g.43620G>A mutType missense
KinMutBase_RET_DNA:g.44027C>T protEffect R873W
KinMutBase_RET_DNA:g.44027C>T mutType missense
KinMutBase_RET_DNA:g.43597C>T protEffect P841L
KinMutBase_RET_DNA:g.43597C>T mutType missense
KinMutBase_STK11_DNA:g.14525T>A protEffect I177N
KinMutBase_STK11_DNA:g.14525T>A mutType missense
KinMutBase_STK11_DNA:g.16083C>T protEffect R304W
KinMutBase_STK11_DNA:g.16083C>T mutType missense
KinMutBase_STK11_DNA:g.14474T>C protEffect L160P
KinMutBase_STK11_DNA:g.14474T>C mutType missense
KinMutBase_STK11_DNA:g.14761T>C protEffect F231L
KinMutBase_STK11_DNA:g.14761T>C mutType missense
KinMutBase_STK11_DNA:g.1196G>A protEffect V66M
KinMutBase_STK11_DNA:g.1196G>A mutType missense
KinMutBase_TGFBR2_DNA:g.66055T>C protEffect V250A
KinMutBase_TGFBR2_DNA:g.66055T>C mutType missense
KinMutBase_TGFBR2_DNA:g.68316A>G protEffect Y448C
KinMutBase_TGFBR2_DNA:g.68316A>G mutType missense
KinMutBase_TGFBR2_DNA:g.82572A>G protEffect K488E
KinMutBase_TGFBR2_DNA:g.82572A>G mutType missense
KinMutBase_TGFBR2_DNA:g.66425G>T protEffect M373I
KinMutBase_TGFBR2_DNA:g.66425G>T mutType missense
KinMutBase_TGFBR2_DNA:g.66508C>T protEffect S401F
KinMutBase_TGFBR2_DNA:g.66508C>T mutType missense
KinMutBase_PAK3_DNA:g.72299C>A protEffect A365E
KinMutBase_PAK3_DNA:g.72299C>A mutType missense
KinMutBase_FLT3_DNA:g.53109G>T protEffect D835Y
KinMutBase_FLT3_DNA:g.53109G>T mutType missense
KinMutBase_FLT3_DNA:g.53110A>T protEffect D835V
KinMutBase_FLT3_DNA:g.53110A>T mutType missense
KinMutBase_FLT3_DNA:g.53109G>C protEffect D835H
KinMutBase_FLT3_DNA:g.53109G>C mutType missense
KinMutBase_FLT3_DNA:g.53111T>A protEffect D835E
KinMutBase_FLT3_DNA:g.53111T>A mutType missense
KinMutBase_FLT3_DNA:g.53109G>A protEffect D835N
KinMutBase_FLT3_DNA:g.53109G>A mutType missense
KinMutBase_FLT3_DNA:g.53112A>T protEffect I836F
KinMutBase_FLT3_DNA:g.53112A>T mutType missense
KinMutBase_FLT3_DNA:g.53110A>C protEffect D835A
KinMutBase_FLT3_DNA:g.53110A>C mutType missense
KinMutBase_FLT3_DNA:g.53111T>G protEffect D835E
KinMutBase_FLT3_DNA:g.53111T>G mutType missense
KinMutBase_FLT3_DNA:g.53109delG protEffect D835X837
KinMutBase_FLT3_DNA:g.53109delG mutType frameshift
KinMutBase_FLT3_DNA:g.43422C>T protEffect A680V
KinMutBase_FLT3_DNA:g.43422C>T mutType missense
KinMutBase_FLT3_DNA:g.53110A>G protEffect D835G
KinMutBase_FLT3_DNA:g.53110A>G mutType missense
KinMutBase_FLT3_DNA:g.53112delA protEffect I836X837
KinMutBase_FLT3_DNA:g.53112delA mutType frameshift
KinMutBase_FLT3_DNA:g.53113T>C protEffect I836T
KinMutBase_FLT3_DNA:g.53113T>C mutType missense
KinMutBase_FLT3_DNA:g.53113_53114insG protEffect I836X839
KinMutBase_FLT3_DNA:g.53113_53114insG mutType frameshift
KinMutBase_FLT3_DNA:g.53126_53127insG protEffect N841X862
KinMutBase_FLT3_DNA:g.53126_53127insG mutType frameshift
KinMutBase_BMPR1A_DNA:g.167795T>C protEffect M470T
KinMutBase_BMPR1A_DNA:g.167795T>C mutType missense
KinMutBase_AJ222657:g.8429G>A protEffect R660Q
KinMutBase_AJ222657:g.8429G>A mutType missense
KinMutBase_AJ222657:g.6858T>C protEffect F565S
KinMutBase_AJ222657:g.6858T>C mutType missense
KinMutBase_AJ222657:g.8156delG protEffect R602X636
KinMutBase_AJ222657:g.8156delG mutType frameshift
KinMutBase_AJ222657:g.5311C>T protEffect R540C
KinMutBase_AJ222657:g.5311C>T mutType missense
KinMutBase_AJ222657:g.9184A>G protEffect Y746C
KinMutBase_AJ222657:g.9184A>G mutType missense
KinMutBase_AJ222657:g.8428C>T protEffect R660X
KinMutBase_AJ222657:g.8428C>T mutType nonsense
KinMutBase_AJ222657:g.9875C>T protEffect R768W
KinMutBase_AJ222657:g.9875C>T mutType missense
KinMutBase_AJ222657:g.9890A>C protEffect M773L
KinMutBase_AJ222657:g.9890A>C mutType missense
KinMutBase_AJ222657:g.10656C>T protEffect R838C
KinMutBase_AJ222657:g.10656C>T mutType missense
KinMutBase_AJ222657:g.10657G>A protEffect R838H
KinMutBase_AJ222657:g.10657G>A mutType missense
KinMutBase_AJ222657:g.10656C>A protEffect R838S
KinMutBase_AJ222657:g.10656C>A mutType missense
KinMutBase_AJ222657:g.10655G>C protEffect E837D
KinMutBase_AJ222657:g.10655G>C mutType missense
KinMutBase_PHKG2_DNA:g.8867G>A protEffect D215N
KinMutBase_PHKG2_DNA:g.8867G>A mutType missense
KinMutBase_PHKG2_DNA:g.9287G>A protEffect W300X
KinMutBase_PHKG2_DNA:g.9287G>A mutType nonsense
KinMutBase_PHKG2_DNA:g.3875delA protEffect 89_89delins21
KinMutBase_PHKG2_DNA:g.3875delA mutType frameshift
KinMutBase_PHKG2_DNA:g.6069G>A protEffect E157K
KinMutBase_PHKG2_DNA:g.6069G>A mutType missense
KinMutBase_PHKG2_DNA:g.4153delC protEffect L93X109
KinMutBase_PHKG2_DNA:g.4153delC mutType frameshift
KinMutBase_PHKG2_DNA:g.3739C>T protEffect R44X
KinMutBase_PHKG2_DNA:g.3739C>T mutType nonsense
KinMutBase_PHKG2_DNA:g.6033C>T protEffect H145Y
KinMutBase_PHKG2_DNA:g.6033C>T mutType missense
KinMutBase_PHKG2_DNA:g.8995T>G protEffect L226R
KinMutBase_PHKG2_DNA:g.8995T>G mutType missense
KinMutBase_INSR_DNA:g.169430C>T protEffect R1027X
KinMutBase_INSR_DNA:g.169430C>T mutType nonsense
KinMutBase_JAK3_DNA:g.14140delG protEffect K733X755
KinMutBase_JAK3_DNA:g.14140delG mutType frameshift
KinMutBase_RET_DNA:g.44121C>G protEffect S904C
KinMutBase_RET_DNA:g.44121C>G mutType missense
KinMutBase_STK11_DNA:g.1198delG protEffect V66X95
KinMutBase_STK11_DNA:g.1198delG mutType frameshift
KinMutBase_STK11_DNA:g.15396delC protEffect D277X286
KinMutBase_STK11_DNA:g.15396delC mutType frameshift
KinMutBase_STK11_DNA:g.1197dupT protEffect V66X162
KinMutBase_STK11_DNA:g.1197dupT mutType frameshift
KinMutBase_STK11_DNA:g.14720delC protEffect P217X286
KinMutBase_STK11_DNA:g.14720delC mutType frameshift
KinMutBase_STK11_DNA:g.14787G>C protEffect W239C
KinMutBase_STK11_DNA:g.14787G>C mutType missense
KinMutBase_ACVRL1_DNA:g.4706T>A protEffect I398N
KinMutBase_ACVRL1_DNA:g.4706T>A mutType missense
KinMutBase_RPS6KA3_DNA:g.73365delC protEffect A136X163
KinMutBase_RPS6KA3_DNA:g.73365delC mutType frameshift
KinMutBase_RPS6KA3_DNA:g.73409delA protEffect R151X163
KinMutBase_RPS6KA3_DNA:g.73409delA mutType frameshift
KinMutBase_RPS6KA3_DNA:g.81295T>C protEffect F268S
KinMutBase_RPS6KA3_DNA:g.81295T>C mutType missense
KinMutBase_FLT4_DNA:g.31635C>T protEffect P954S
KinMutBase_FLT4_DNA:g.31635C>T mutType missense
KinMutBase_PHKG2_DNA:g.8790G>A protEffect G189E
KinMutBase_PHKG2_DNA:g.8790G>A mutType missense
KinMutBase_PHKG2_DNA:g.4193T>A protEffect V106E
KinMutBase_PHKG2_DNA:g.4193T>A mutType missense
KinMutBase_LTK_DNA:g.10479G>A protEffect E763K
KinMutBase_LTK_DNA:g.10479G>A mutType missense
OSTM1base_D0065:g.1106T>A protEffect C12X
OSTM1base_D0065:g.1106T>A mutType nonsense
OSTM1base_D0065:g.11435_11436delAG protEffect S139X150
OSTM1base_D0065:g.11435_11436delAG mutType frameshift
OSTM1base_D0065:g.26474G>A mutType frameshift
F12base_D0119:g.6346C>A protEffect T328K
F12base_D0119:g.6346C>A mutType missense
F12base_D0119:g.6346C>G protEffect T328R
F12base_D0119:g.6346C>G mutType missense
CLCN7base_CLCN7_DNA:g.15140dupT protEffect F143X145
CLCN7base_CLCN7_DNA:g.15140dupT mutType frameshift
CLCN7base_CLCN7_DNA:g.15536G>A protEffect W179X
CLCN7base_CLCN7_DNA:g.15536G>A mutType nonsense
CLCN7base_CLCN7_DNA:g.16838G>A protEffect G203D
CLCN7base_CLCN7_DNA:g.16838G>A mutType missense
CLCN7base_CLCN7_DNA:g.16867C>T protEffect L213F
CLCN7base_CLCN7_DNA:g.16867C>T mutType missense
CLCN7base_CLCN7_DNA:g.16873G>A protEffect G215R
CLCN7base_CLCN7_DNA:g.16873G>A mutType missense
CLCN7base_CLCN7_DNA:g.18298G>A protEffect G240R
CLCN7base_CLCN7_DNA:g.18298G>A mutType missense
CLCN7base_CLCN7_DNA:g.25474C>T protEffect R526W
CLCN7base_CLCN7_DNA:g.25474C>T mutType missense
CLCN7base_CLCN7_DNA:g.18682C>T protEffect P249L
CLCN7base_CLCN7_DNA:g.18682C>T mutType missense
CLCN7base_CLCN7_DNA:g.19840G>A protEffect R286Q
CLCN7base_CLCN7_DNA:g.19840G>A mutType missense
CLCN7base_CLCN7_DNA:g.19839C>T protEffect R286W
CLCN7base_CLCN7_DNA:g.19839C>T mutType missense
CLCN7base_CLCN7_DNA:g.20774A>G protEffect M332V
CLCN7base_CLCN7_DNA:g.20774A>G mutType missense
CLCN7base_CLCN7_DNA:g.28974C>T protEffect R767W
CLCN7base_CLCN7_DNA:g.28974C>T mutType missense
CLCN7base_CLCN7_DNA:g.21547delA protEffect K367X395
CLCN7base_CLCN7_DNA:g.21547delA mutType frameshift
CLCN7base_CLCN7_DNA:g.28443G>A protEffect R628X635
CLCN7base_CLCN7_DNA:g.28443G>A mutType deletion
CLCN7base_CLCN7_DNA:g.25366C>T protEffect L490F
CLCN7base_CLCN7_DNA:g.25366C>T mutType missense
CLCN7base_CLCN7_DNA:g.26730C>T protEffect Q555X
CLCN7base_CLCN7_DNA:g.26730C>T mutType nonsense
CLCN7base_CLCN7_DNA:g.28960G>A protEffect R762Q
CLCN7base_CLCN7_DNA:g.28960G>A mutType missense
CLCN7base_CLCN7_DNA:g.28305G>A protEffect R674Q
CLCN7base_CLCN7_DNA:g.28305G>A mutType missense
CLCN7base_CLCN7_DNA:g.28314G>T protEffect G677V
CLCN7base_CLCN7_DNA:g.28314G>T mutType missense
CLCN7base_CLCN7_DNA:g.28346_28348delCTA protEffect L688del
CLCN7base_CLCN7_DNA:g.28346_28348delCTA mutType inframe
CLCN7base_CLCN7_DNA:g.28960G>T protEffect R762L
CLCN7base_CLCN7_DNA:g.28960G>T mutType missense
CLCN7base_CLCN7_DNA:g.28969G>A protEffect G765D
CLCN7base_CLCN7_DNA:g.28969G>A mutType missense
CLCN7base_CLCN7_DNA:g.28972T>C protEffect L766P
CLCN7base_CLCN7_DNA:g.28972T>C mutType missense
CLCN7base_CLCN7_DNA:g.28975G>A protEffect R767Q
CLCN7base_CLCN7_DNA:g.28975G>A mutType missense
CLCN7base_CLCN7_DNA:g.29326C>A protEffect A788D
CLCN7base_CLCN7_DNA:g.29326C>A mutType missense
CLCN7base_CLCN7_DNA:g.29348_29349delAG protEffect 795_796delins131
CLCN7base_CLCN7_DNA:g.29348_29349delAG mutType frameshift
CA2base_CA2_DNA:g.2303C>T protEffect Q28X
CA2base_CA2_DNA:g.2303C>T mutType nonsense
CA2base_CA2_DNA:g.2320delC protEffect I33X44
CA2base_CA2_DNA:g.2320delC mutType frameshift
CA2base_CA2_DNA:g.2341T>G protEffect Y40X
CA2base_CA2_DNA:g.2341T>G mutType nonsense
CA2base_CA2_DNA:g.2363_2366delTCTG protEffect S48X56
CA2base_CA2_DNA:g.2363_2366delTCTG mutType frameshift
CA2base_CA2_DNA:g.2366_2369delGTTT protEffect V49X56
CA2base_CA2_DNA:g.2366_2369delGTTT mutType frameshift
CA2base_CA2_DNA:g.2378delC protEffect Q53X57
CA2base_CA2_DNA:g.2378delC mutType frameshift
CA2base_CA2_DNA:g.2412delA protEffect H64X90
CA2base_CA2_DNA:g.2412delA mutType frameshift
CA2base_CA2_DNA:g.2441_2442delCA protEffect Q74X100
CA2base_CA2_DNA:g.2441_2442delCA mutType frameshift
CA2base_CA2_DNA:g.10719A>C protEffect Q92P
CA2base_CA2_DNA:g.10719A>C mutType missense
CA2base_CA2_DNA:g.10724C>T protEffect H94Y
CA2base_CA2_DNA:g.10724C>T mutType missense
CA2base_CA2_DNA:g.11386G>C protEffect G144R
CA2base_CA2_DNA:g.11386G>C mutType missense
CA2base_CA2_DNA:g.10734G>A protEffect W97X
CA2base_CA2_DNA:g.10734G>A mutType nonsense
CA2base_CA2_DNA:g.10763C>T protEffect H107Y
CA2base_CA2_DNA:g.10763C>T mutType missense
CA2base_CA2_DNA:g.12842delA protEffect K169X197
CA2base_CA2_DNA:g.12842delA mutType frameshift
CA2base_CA2_DNA:g.14131_14132insGT protEffect D179X198
CA2base_CA2_DNA:g.14131_14132insGT mutType frameshift
CA2base_CA2_DNA:g.14217delC protEffect T207X223
CA2base_CA2_DNA:g.14217delC mutType frameshift
CA2base_CA2_DNA:g.14216delC protEffect T207X223
CA2base_CA2_DNA:g.14216delC mutType frameshift
CA2base_CA2_DNA:g.14226_14237delinsCACA protEffect V210X224
CA2base_CA2_DNA:g.14226_14237delinsCACA mutType frameshift
CA2base_CA2_DNA:g.17669delA protEffect K227X239
CA2base_CA2_DNA:g.17669delA mutType frameshift
CA2base_CA2_DNA:g.17686_17687delGG protEffect G232X234
CA2base_CA2_DNA:g.17686_17687delGG mutType frameshift
CA2base_CA2_DNA:g.17743delG protEffect K251X265
CA2base_CA2_DNA:g.17743delG mutType frameshift
ARdb_2 phenoCommon CAIS
ARdb_2 protEffect AR:p.(Pro42fs)
ARdb_3 phenoCommon Prostate cancer
ARdb_3 protEffect AR:p.(Leu54Ser)
ARdb_5 phenoCommon Prostate cancer
ARdb_5 protEffect AR:p.(Leu57Gln)
ARdb_8 phenoCommon CAIS
ARdb_8 protEffect AR:p.(Gln60*)
ARdb_9 phenoCommon Prostate cancer
ARdb_9 protEffect AR:p.(Gln64Arg)
ARdb_10 phenoCommon Prostate cancer
ARdb_10 protEffect AR:p.(Gln114His)
ARdb_11 phenoCommon CAIS
ARdb_11 protEffect AR:p.(Arg129fs)
ARdb_13 phenoCommon CAIS
ARdb_13 protEffect AR:p.(Leu174*)
ARdb_14 phenoCommon Prostate cancer
ARdb_14 protEffect AR:p.(Lys182Arg)
ARdb_15 phenoCommon CAIS
ARdb_15 protEffect AR:p(Glu204fs)
ARdb_16 phenoCommon CAIS
ARdb_16 protEffect AR:p.(Ala217fs)
ARdb_17 phenoCommon Prostate cancer
ARdb_17 protEffect AR:p.(Met268Thr)
ARdb_18 phenoCommon Prostate cancer
ARdb_18 protEffect AR:p.(Pro271Ser)
ARdb_19 phenoCommon CAIS
ARdb_19 protEffect AR:p.(Asp266fs)
ARdb_20 phenoCommon CAIS
ARdb_20 protEffect AR:p.(Glu355*)
ARdb_21 phenoCommon CAIS
ARdb_21 protEffect AR:p.(Gly373*)
ARdb_22 phenoCommon CAIS
ARdb_22 protEffect AR:p.(Pro392Arg)
ARdb_24 phenoCommon CAIS
ARdb_24 protEffect AR:p.(Tyr481*)
ARdb_25 phenoCommon CAIS
ARdb_25 protEffect AR:p.(Trp503*)
ARdb_26 phenoCommon Prostate cancer
ARdb_26 protEffect AR:p.(Asp529Gly)
ARdb_27 phenoCommon CAIS
ARdb_27 protEffect AR:p.(Tyr535*)
ARdb_32 phenoCommon PAIS
ARdb_32 protEffect AR:p.(Leu548Phe)
ARdb_33 phenoCommon MAIS
ARdb_33 protEffect AR:p.(Pro549Ser)
ARdb_34 phenoCommon CAIS
ARdb_34 protEffect AR:p.(Cys560Tyr)
ARdb_35 phenoCommon PAIS
ARdb_35 protEffect AR:p.(Gly569Trp)
ARdb_36 phenoCommon PAIS
ARdb_36 protEffect AR:p.(Gly569Val)
ARdb_38 phenoCommon CAIS
ARdb_38 protEffect AR:p.(Ala574Asp)
ARdb_39 phenoCommon CAIS
ARdb_39 protEffect AR:p.(Cys577Arg)
ARdb_40 phenoCommon CAIS
ARdb_40 protEffect AR:p.(Cys577Phe)
ARdb_41 phenoCommon CAIS
ARdb_41 protEffect AR:p.(Cys580Tyr)
ARdb_42 phenoCommon CAIS
ARdb_42 protEffect AR:p.(Cys580Phe)
ARdb_43 phenoCommon CAIS
ARdb_43 protEffect AR:p.(Cys580fs)
ARdb_44 phenoCommon CAIS
ARdb_44 protEffect AR:p.(Val582Phe)
ARdb_45 phenoCommon CAIS
ARdb_45 protEffect AR:p.(Phe584del)
ARdb_46 phenoCommon PAIS
ARdb_46 protEffect AR:p.(Phe583Tyr)
ARdb_47 phenoCommon PAIS
ARdb_47 protEffect AR:p.(Phe583Ser)
ARdb_48 phenoCommon CAIS
ARdb_48 protEffect AR:p.(Arg586Lys)
ARdb_52 phenoCommon CAIS
ARdb_52 protEffect AR:p.(Lys591*)
ARdb_53 phenoCommon PAIS
ARdb_53 protEffect AR:p.(Ala597Thr)
ARdb_54 phenoCommon PAIS
ARdb_54 protEffect AR:p.(Ser598Gly)
ARdb_55 phenoCommon CAIS
ARdb_55 protEffect AR:p.(Cys602Phe)
ARdb_56 phenoCommon PAIS
ARdb_56 protEffect AR:p.(Asp605Tyr)
ARdb_57 phenoCommon CAIS
ARdb_57 protEffect AR:p.(Arg608*)
ARdb_58 phenoCommon PAIS
ARdb_58 phenoCommon Breast cancer
ARdb_58 protEffect AR:p.(Arg608Gln)
ARdb_61 phenoCommon PAIS
ARdb_61 protEffect AR:p.(Arg609Lys)
ARdb_61 phenoCommon Breast cancer
ARdb_63 phenoCommon PAIS
ARdb_63 protEffect AR:p.(Asn611Thr)
ARdb_64 phenoCommon CAIS
ARdb_64 protEffect AR:p.(Arg616del)
ARdb_65 phenoCommon CAIS
ARdb_65 protEffect AR:p.(Arg616His)
ARdb_65 phenoCommon PAIS
ARdb_65 phenoCommon MAIS
ARdb_70 phenoCommon PAIS
ARdb_70 protEffect AR:p.(Arg616Pro)
ARdb_71 phenoCommon PAIS
ARdb_71 protEffect AR:p.(Leu 617Arg)
ARdb_72 phenoCommon CAIS
ARdb_72 protEffect AR:p.(Leu617Pro)
ARdb_74 phenoCommon PAIS
ARdb_74 protEffect AR:p.(Arg618Pro)
ARdb_78 phenoCommon CAIS
ARdb_78 protEffect AR:p.(Leu708fs)
ARdb_79 phenoCommon Prostate cancer
ARdb_79 protEffect AR:p.(Lys631Thr)
ARdb_80 phenoCommon PAIS
ARdb_80 protEffect AR:p.(Ala646Asp)
ARdb_81 phenoCommon Prostate cancer
ARdb_81 protEffect AR:p.(Ser648Asn)
ARdb_82 phenoCommon PAIS
ARdb_82 protEffect AR:p.(Ile665Asn)
ARdb_83 phenoCommon Prostate cancer
ARdb_83 protEffect AR:p.(Gln671Arg)
ARdb_84 phenoCommon PAIS
ARdb_84 protEffect AR:p.(Pro672His)
ARdb_85 phenoCommon Prostate cancer
ARdb_85 protEffect AR:p.(Ile673Thr)
ARdb_86 phenoCommon CAIS
ARdb_86 protEffect AR:p.(Leu678Pro)
ARdb_87 phenoCommon CAIS
ARdb_87 protEffect AR:p.(Glu682Lys)
ARdb_89 phenoCommon Prostate cancer
ARdb_89 protEffect AR:p.(Gly684Ala)
ARdb_90 phenoCommon CAIS
ARdb_90 protEffect AR:p.(Val685Ile)
ARdb_91 phenoCommon PAIS
ARdb_91 protEffect AR:p.(Cys687Arg)
ARdb_92 phenoCommon PAIS
ARdb_92 protEffect AR:p.(Ala688Val)
ARdb_93 phenoCommon CAIS
ARdb_93 protEffect AR:p.(Gly689Glu)
ARdb_94 phenoCommon PAIS
ARdb_94 protEffect AR:p.(Asp691del)
ARdb_95 phenoCommon CAIS
ARdb_95 protEffect AR:p.(Asn693del)
ARdb_96 phenoCommon CAIS
ARdb_96 protEffect AR:p.(Asp696His)
ARdb_97 phenoCommon CAIS
ARdb_97 protEffect AR:p.(Asp696Asn)
ARdb_97 phenoCommon PAIS
ARdb_99 phenoCommon Prostate cancer
ARdb_99 protEffect AR:p.(Leu702His)
ARdb_100 phenoCommon CAIS
ARdb_100 protEffect AR:p.(Ser703Ala)
ARdb_101 phenoCommon PAIS
ARdb_101 protEffect AR:p.(Ser704Gly)
ARdb_102 phenoCommon CAIS
ARdb_102 protEffect AR:p.(Asn706Ser)
ARdb_105 phenoCommon CAIS
ARdb_105 protEffect AR:p.(Leu708Arg)
ARdb_106 phenoCommon PAIS
ARdb_106 protEffect AR:p.(Gly709Ala)
ARdb_107 phenoCommon PAIS
ARdb_107 protEffect AR:p.(Gly709Val)
ARdb_108 phenoCommon PAIS
ARdb_108 protEffect AR:p.(Leu713Phe)
ARdb_109 phenoCommon Prostate cancer
ARdb_109 protEffect AR:p.(Val716Met)
ARdb_111 phenoCommon CAIS
ARdb_111 protEffect AR:p.(Trp719*)
ARdb_112 phenoCommon Prostate cancer
ARdb_112 protEffect AR:p.(Lys721Glu)
ARdb_113 phenoCommon Prostate cancer
ARdb_113 protEffect AR:p.(Ala722Thr)
ARdb_114 phenoCommon CAIS
ARdb_114 protEffect AR:p.(Leu723Phe)
ARdb_118 phenoCommon PAIS
ARdb_118 protEffect AR:p.(Phe726Leu)
ARdb_119 phenoCommon Prostate cancer
ARdb_119 protEffect AR:p.(Arg727Leu)
ARdb_120 phenoCommon MAIS
ARdb_120 protEffect AR:p.(Asn728Lys)
ARdb_121 phenoCommon PAIS
ARdb_121 protEffect AR:p.(Leu729Ser)
ARdb_122 phenoCommon Prostate cancer
ARdb_122 protEffect AR:p.(Val731Met)
ARdb_124 phenoCommon CAIS
ARdb_124 protEffect AR:p.(Asp733Asn)
ARdb_125 phenoCommon CAIS
ARdb_125 protEffect AR:p.(Asp733Tyr)
ARdb_128 phenoCommon PAIS
ARdb_128 protEffect AR:p.(Gln734His)
ARdb_129 phenoCommon PAIS
ARdb_129 protEffect AR:p.(Ile738Thr)
ARdb_130 phenoCommon CAIS
ARdb_130 protEffect AR:p.(Trp742Arg)
ARdb_131 phenoCommon PAIS
ARdb_131 protEffect AR:p.(Met743Val)
ARdb_132 phenoCommon PAIS
ARdb_132 protEffect AR:p.(Met743Ile)
ARdb_133 phenoCommon PAIS
ARdb_133 protEffect AR:p.(Gly744Val)
ARdb_135 phenoCommon CAIS
ARdb_135 protEffect AR:p.(Leu745Phe)
ARdb_136 phenoCommon PAIS
ARdb_136 protEffect AR:p.(Met746Thr)
ARdb_137 phenoCommon PAIS
ARdb_137 protEffect AR:p.(Val747Met)
ARdb_139 phenoCommon PAIS
ARdb_139 protEffect AR:p.(Ala749Asp)
ARdb_140 phenoCommon CAIS
ARdb_140 protEffect AR:p.(Met750Val)
ARdb_142 phenoCommon CAIS
ARdb_142 protEffect AR:p.(Gly751Asp)
ARdb_144 phenoCommon CAIS
ARdb_144 protEffect AR:p.(Trp752Arg)
ARdb_145 phenoCommon CAIS
ARdb_145 protEffect AR:p.(Arg753*)
ARdb_147 phenoCommon CAIS
ARdb_147 protEffect AR:p.(Arg753Gln)
ARdb_149 phenoCommon CAIS
ARdb_149 protEffect AR:p.(Phe755Val)
ARdb_151 phenoCommon PAIS
ARdb_151 protEffect AR:p.(Phe755Leu)
ARdb_153 phenoCommon PAIS
ARdb_153 protEffect AR:p.(Asn757Ser)
ARdb_154 phenoCommon CAIS
ARdb_154 protEffect AR:p.(Ser760Phe)
ARdb_155 phenoCommon CAIS
ARdb_155 protEffect AR:p.(Leu763Phe)
ARdb_157 phenoCommon CAIS
ARdb_157 protEffect AR:p.(Tyr764His)
ARdb_158 phenoCommon PAIS
ARdb_158 protEffect AR:p.(Tyr764Cys)
ARdb_161 phenoCommon CAIS
ARdb_161 protEffect AR:p.(Phe765Leu)
ARdb_162 phenoCommon CAIS
ARdb_162 protEffect AR:p.(Phe765Leu)
ARdb_163 phenoCommon CAIS
ARdb_163 protEffect AR:p.(Ala766Thr)
ARdb_167 phenoCommon CAIS
ARdb_167 protEffect AR:p.(Ala766Val)
ARdb_168 phenoCommon CAIS
ARdb_168 protEffect AR:p.(Pro767Ser)
ARdb_169 phenoCommon CAIS
ARdb_169 protEffect AR:p.(Pro767fs)
ARdb_170 phenoCommon CAIS
ARdb_170 protEffect AR:p.(Asp768Glu)
ARdb_171 phenoCommon PAIS
ARdb_171 protEffect AR:p.(Asn772His)
ARdb_172 phenoCommon CAIS
ARdb_172 protEffect AR:p.(Glu773*)
ARdb_173 phenoCommon PAIS
ARdb_173 protEffect AR:p.(Glu773Gly)
ARdb_174 phenoCommon PAIS
ARdb_174 protEffect AR:p.(Glu773Ala)
ARdb_175 phenoCommon CAIS
ARdb_175 protEffect AR:p.(Arg775Cys)
ARdb_181 phenoCommon CAIS
ARdb_181 protEffect AR:p.(Arg775His)
ARdb_181 phenoCommon PAIS
ARdb_186 phenoCommon CAIS
ARdb_186 protEffect AR:p.(Arg780Trp)
ARdb_189 phenoCommon PAIS
ARdb_189 protEffect AR:p.(Met781Ile)
ARdb_189 phenoCommon CAIS
ARdb_194 phenoCommon Prostate cancer
ARdb_194 protEffect AR:p.(Ser783Asn)
ARdb_195 phenoCommon CAIS
ARdb_195 protEffect AR:p.(Arg787*)
ARdb_196 phenoCommon CAIS
ARdb_196 protEffect AR:p.(Met788Val)
ARdb_197 phenoCommon MAIS
ARdb_197 protEffect AR:p.(Leu791Phe)
ARdb_198 phenoCommon MAIS
ARdb_198 protEffect AR:p.(Glu794Asp)
ARdb_199 phenoCommon CAIS
ARdb_199 protEffect AR:p.(Phe795Ser)
ARdb_201 phenoCommon CAIS
ARdb_201 protEffect AR:p.(Trp797*)
ARdb_202 phenoCommon PAIS
ARdb_202 protEffect AR:p.(Gln799Glu)
ARdb_202 phenoCommon Prostate cancer
ARdb_206 phenoCommon PAIS
ARdb_206 protEffect AR:p.(Cys807Tyr)
ARdb_207 phenoCommon CAIS
ARdb_207 protEffect AR:p.(Met808Val)
ARdb_208 phenoCommon CAIS
ARdb_208 protEffect AR:p.(Met808Arg)
ARdb_209 phenoCommon PAIS
ARdb_209 protEffect AR:p.(Ser815Asn)
ARdb_209 phenoCommon MAIS
ARdb_211 phenoCommon CAIS
ARdb_211 protEffect AR:p.(Gly821Ala)
ARdb_212 phenoCommon PAIS
ARdb_212 protEffect AR:p.(Leu822Val)
ARdb_219 phenoCommon CAIS
ARdb_219 protEffect AR:p.(Tyr835Cys)
ARdb_220 phenoCommon PAIS
ARdb_220 protEffect AR:p.(Arg841Cys)
ARdb_223 phenoCommon PAIS
ARdb_223 protEffect AR:p.(Arg841His)
ARdb_233 phenoCommon PAIS
ARdb_233 protEffect AR:p.(Ile842Ser)
ARdb_234 phenoCommon CAIS
ARdb_234 protEffect AR:p.(Ile843Thr)
ARdb_234 phenoCommon PAIS
ARdb_236 phenoCommon CAIS
ARdb_236 protEffect AR:p.(Asn849fs)
ARdb_237 phenoCommon CAIS
ARdb_237 protEffect AR:p.(Ser854*)
ARdb_239 phenoCommon PAIS
ARdb_239 protEffect AR:p.(Arg855Lys)
ARdb_240 phenoCommon CAIS
ARdb_240 protEffect AR:p.(Arg856Cys)
ARdb_249 phenoCommon CAIS
ARdb_249 protEffect AR:p.(Arg856His)
ARdb_249 phenoCommon PAIS
ARdb_256 phenoCommon CAIS
ARdb_256 protEffect AR:p.(Leu864Arg
ARdb_257 phenoCommon CAIS
ARdb_257 protEffect AR:p.(Asp865Asn)
ARdb_258 phenoCommon CAIS
ARdb_258 protEffect AR:p.(Asp865Gly)
ARdb_259 phenoCommon PAIS
ARdb_259 protEffect AR:p.(Val867Leu)
ARdb_263 phenoCommon CAIS
ARdb_263 protEffect AR:p.(Val867Met)
ARdb_263 phenoCommon PAIS
ARdb_268 phenoCommon CAIS
ARdb_268 protEffect AR:p.(Val867Glu)
ARdb_269 phenoCommon PAIS
ARdb_269 protEffect AR:p.(Ile870Met)
ARdb_270 phenoCommon PAIS
ARdb_270 protEffect AR:p.(Ala871Val)
ARdb_271 phenoCommon PAIS
ARdb_271 protEffect AR:p.(Ala871Gly)
ARdb_272 phenoCommon MAIS
ARdb_272 protEffect AR:p.(Arg872Gly)
ARdb_273 phenoCommon Prostate cancer
ARdb_273 protEffect AR:p.(His875Tyr)
ARdb_275 phenoCommon LNCaP cell line
ARdb_275 protEffect AR:p.(Thr878Ala)
ARdb_275 phenoCommon Prostate cancer
ARdb_280 phenoCommon Prostate cancer
ARdb_280 protEffect AR:p.(Thr878Ser)
ARdb_281 phenoCommon CAIS
ARdb_281 protEffect AR:p.(Leu882Val)
ARdb_282 phenoCommon CAIS
ARdb_282 protEffect AR:p.(Lys884*)
ARdb_283 phenoCommon MAIS
ARdb_283 protEffect AR:p.(Met887Val)
ARdb_284 phenoCommon CAIS
ARdb_284 protEffect AR:p.(Val890Met)
ARdb_284 phenoCommon PAIS
ARdb_286 phenoCommon CAIS
ARdb_286 protEffect AR:p.(Ile899Thr)
ARdb_287 phenoCommon Prostate cancer
ARdb_287 protEffect AR:p.(Gln903Arg)
ARdb_288 phenoCommon PAIS
ARdb_288 protEffect AR:p.(Val904Met)
ARdb_289 phenoCommon CAIS
ARdb_289 protEffect AR:p.(Pro905Ser)
ARdb_290 phenoCommon CAIS
ARdb_290 protEffect AR:p.(Pro905His)
ARdb_291 phenoCommon CAIS
ARdb_291 protEffect AR:p.(Leu908Phe)
ARdb_292 phenoCommon PAIS
ARdb_292 protEffect AR:p.(Gly910Arg)
ARdb_293 phenoCommon PAIS
ARdb_293 protEffect AR:p.(Pro914Ser)
ARdb_294 phenoCommon CAIS
ARdb_295 phenoCommon CAIS
ARdb_296 phenoCommon CAIS
ARdb_298 phenoCommon CAIS
ARdb_299 phenoCommon PAIS
ARdb_300 phenoCommon Prostate cancer
ARdb_300 protEffect AR:p.(Val758Ala)
ARdb_304 phenoCommon CAIS
ARdb_306 phenoCommon Prostate cancer
ARdb_306 protEffect AR:p.(Arg630Gln)
ARdb_13 phenoCommon PAIS
ARdb_319 phenoCommon CAIS
ARdb_319 protEffect AR:p.(Gln196Arg)
ARdb_327 phenoCommon Prostate cancer
ARdb_327 protEffect AR:p.(Lys911Arg)
ARdb_328 phenoCommon Normal
ARdb_328 phenoOfficial no phenotype detected [MP:0002169]
ARdb_328 protEffect AR:p.(Glu213)
ARdb_80 phenoCommon Normal
ARdb_80 phenoOfficial no phenotype detected [MP:0002169]
ARdb_335 phenoCommon CAIS
ARdb_335 protEffect AR:p.(Asp696Val)
ARdb_338 phenoCommon MAIS
ARdb_338 protEffect AR:p.(Pro392Ser)
ARdb_339 phenoCommon MAIS
ARdb_339 protEffect AR:p.(Val512Val)
ARdb_202 phenoCommon MAIS
ARdb_346 phenoCommon PAIS
ARdb_346 protEffect AR:p.(Asn759Thr)
ARdb_350 phenoCommon CAIS
ARdb_350 protEffect AR:p.(Leu263Pro)
ARdb_357 phenoCommon Prostate cancer
ARdb_357 protEffect AR:p.(Leu547fs)
ARdb_358 phenoCommon Prostate cancer
ARdb_358 protEffect AR:p.(Pro555fs)
ARdb_360 phenoCommon Prostate cancer
ARdb_360 protEffect AR:p.(Trp742*)
ARdb_361 phenoCommon Prostate cancer
ARdb_361 protEffect AR:p.(Gly744fs)
ARdb_362 phenoCommon PAIS
ARdb_362 protEffect AR:p.(Thr603Pro)
ARdb_135 phenoCommon Prostate cancer
ARdb_363 phenoCommon Prostate cancer
ARdb_363 protEffect AR:p.(Ala749Val)
ARdb_364 phenoCommon Prostate cancer
ARdb_364 protEffect AR:p.(Met750Ile)
ARdb_365 phenoCommon Prostate cancer
ARdb_365 protEffect AR:p.(Gly751Ser)
ARdb_366 phenoCommon Prostate cancer
ARdb_366 protEffect AR:p.(Trp752*)
ARdb_368 phenoCommon Prostate cancer
ARdb_368 protEffect AR:p.(Trp752*)
ARdb_369 phenoCommon Prostate cancer
ARdb_369 protEffect AR:p.(Phe755Leu)
ARdb_370 phenoCommon Prostate cancer
ARdb_370 protEffect AR:p.(Thr756Ala)
ARdb_371 phenoCommon Prostate cancer
ARdb_371 protEffect AR:p.(Ser760Pro)
ARdb_158 phenoCommon Prostate cancer
ARdb_263 phenoCommon Prostate cancer
ARdb_374 phenoCommon Prostate cancer
ARdb_374 protEffect AR:p.(Gly910Glu)
ARdb_375 phenoCommon CAIS
ARdb_375 protEffect AR:p.(Pro893Leu)
ARdb_376 phenoCommon MAIS
ARdb_376 protEffect AR:p.(Arg212Arg)
ARdb_328 phenoCommon MAIS
ARdb_379 phenoCommon MAIS
ARdb_379 protEffect AR:p.(Gly216Arg)
ARdb_379 phenoCommon Normal
ARdb_379 phenoOfficial no phenotype detected [MP:0002169]
ARdb_383 phenoCommon CAIS
ARdb_383 protEffect AR:p.(Cys785Tyr)
ARdb_385 phenoCommon PAIS
ARdb_385 protEffect AR:p.(Arg841Gly)
ARdb_386 phenoCommon CAIS
ARdb_386 protEffect AR:p.(Met896Thr)
ARdb_389 phenoCommon CAIS
ARdb_389 protEffect AR:p.(Pro893Ser)
ARdb_390 phenoCommon PAIS
ARdb_390 protEffect AR:p.(Ser598Thr)
ARdb_392 phenoCommon PAIS
ARdb_392 protEffect AR:p.(Leu839)
ARdb_395 phenoCommon Normal
ARdb_395 phenoOfficial no phenotype detected [MP:0002169]
ARdb_395 protEffect AR:p.(Ser207Arg)
ARdb_198 phenoCommon Normal
ARdb_198 phenoOfficial no phenotype detected [MP:0002169]
ARdb_398 phenoCommon Prostate cancer
ARdb_398 protEffect AR:p.(Pro342Leu)
ARdb_400 phenoCommon CAIS
ARdb_400 protEffect AR:p.(Gln641*)
ARdb_368 phenoCommon CAIS
ARdb_403 phenoCommon PAIS
ARdb_403 protEffect AR:p.(Leu813Phe)
ARdb_406 phenoCommon MAIS
ARdb_406 protEffect AR:p.(Arg789Ser)
ARdb_99 phenoCommon MDA PCa-Za
ARdb_409 phenoCommon CAIS
ARdb_409 protEffect AR:p.(Gln60fs)
ARdb_410 phenoCommon CAIS
ARdb_410 protEffect AR:p.(Glu474fs)
ARdb_133 phenoCommon CAIS
ARdb_415 phenoCommon PAIS
ARdb_415 protEffect AR:p.(Arg841Ser)
ARdb_416 phenoCommon CAIS
ARdb_416 protEffect AR:p.(Gln87fs)
ARdb_417 phenoCommon CAIS
ARdb_417 protEffect AR:p.(Pro104fs)
ARdb_417_2 phenoCommon CAIS
ARdb_417_2 protEffect AR:p.(Pro127fs)
ARdb_418 phenoCommon CAIS
ARdb_418 protEffect AR:p.(Gln115*)
ARdb_328 phenoCommon CAIS
ARdb_328 phenoCommon PAIS
ARdb_428 phenoCommon PAIS
ARdb_428 protEffect AR:p.(Met808Thr)
ARdb_430 phenoCommon PAIS
ARdb_430 protEffect AR:p.(Val912Leu)
ARdb_431 phenoCommon Prostate cancer
ARdb_431 protEffect AR:p.(Cys620Tyr)
ARdb_433 phenoCommon Prostate cancer
ARdb_433 protEffect AR:p.(Asp891Asn)
ARdb_438 phenoCommon CAIS
ARdb_438 protEffect AR:p.(Gly463fs)
ARdb_440 phenoCommon CAIS
ARdb_440 protEffect AR:p.(Gly492Ser)
ARdb_70 phenoCommon CAIS
ARdb_446 phenoCommon CAIS
ARdb_446 protEffect AR:p.(Gly689*)
ARdb_447 phenoCommon CAIS
ARdb_447 protEffect AR:p.(Leu701Met)
ARdb_101 phenoCommon CAIS
ARdb_450 phenoCommon CAIS
ARdb_450 protEffect AR:p.(Arg711Thr)
ARdb_451 phenoCommon CAIS
ARdb_451 protEffect AR:p.(Pro724Ser)
ARdb_452 phenoCommon CAIS
ARdb_452 protEffect AR:p.(Gly725Ser)
ARdb_453 phenoCommon CAIS
ARdb_453 protEffect AR:p.(Gly725Asp)
ARdb_460 phenoCommon CAIS
ARdb_460 protEffect AR:p.(Leu769Pro)
ARdb_470 phenoCommon CAIS
ARdb_470 protEffect AR:p.(Phe857Leu)
ARdb_102 phenoCommon PAIS
ARdb_483 phenoCommon PAIS
ARdb_483 protEffect AR:p.(Met750Val
ARdb_486 phenoCommon CAIS
ARdb_486 protEffect AR:p.(Ser866Pro)
ARdb_487 phenoCommon Prostate cancer
ARdb_487 protEffect AR:p.(Lys581Arg)
ARdb_488 phenoCommon Prostate cancer
ARdb_488 protEffect AR:p.(Ala587Val)
ARdb_489 phenoCommon Prostate cancer
ARdb_489 protEffect AR:p.(Thr576Ala)
ARdb_490 phenoCommon Prostate cancer
ARdb_490 protEffect AR:p.(Ala588Ser)
ARdb_492 phenoCommon Prostate cancer
ARdb_492 protEffect AR:p.(Ala749Thr)
ARdb_494 phenoCommon Prostate cancer
ARdb_494 protEffect AR:p.(Arg847Gly)
ARdb_496 phenoCommon CAIS
ARdb_496 protEffect AR:p.(Cys612Tyr)
ARdb_498 phenoCommon CAIS
ARdb_498 protEffect AR:p.(Glu804Lys)
ARdb_501 phenoCommon CAIS
ARdb_501 protEffect AR:p.(Asp820Gln)
ARdb_502 phenoCommon CAIS
ARdb_503 phenoCommon PAIS
ARdb_512 phenoCommon CAIS
ARdb_512 protEffect AR:p.(Arg616Gly)
ARdb_513 phenoCommon MAIS
ARdb_513 protEffect AR:p.(Gln825Lys)
ARdb_516 phenoCommon CAIS
ARdb_516 protEffect AR:p.(Glu155*)
ARdb_517 phenoCommon CAIS
ARdb_517 protEffect AR:p.(Gln658*)
ARdb_518 phenoCommon PAIS
ARdb_518 protEffect AR:p.(Leu702Ile)
ARdb_519 phenoCommon CAIS
ARdb_519 protEffect AR:p.(Gly744Arg)
ARdb_520 phenoCommon PAIS
ARdb_520 protEffect AR:p.(Ala766Ser)
ARdb_521 phenoCommon PAIS
ARdb_521 protEffect AR:p.(Gln803Arg)
ARdb_525 phenoCommon PAIS
ARdb_525 protEffect AR:p.(Gln712Glu)
ARdb_530 phenoCommon CAIS
ARdb_530 protEffect AR:p.(Tyr740Asp)
ARdb_153 phenoCommon MAIS
ARdb_533 phenoCommon PAIS
ARdb_533 protEffect AR:p.(Ser889)
ARdb_534 phenoCommon PAIS
ARdb_534 protEffect AR:p.(Pro683Thr)
ARdb_536 phenoCommon CAIS
ARdb_536 protEffect AR:p.(Gly744Glu)
ARdb_537 phenoCommon CAIS
ARdb_537 protEffect AR:p.(Phe828Val)
ARdb_538 phenoCommon CAIS
ARdb_538 protEffect AR:p.(His875Arg)
ARdb_539 phenoCommon PAIS
ARdb_539 protEffect AR:p.(Asp880Tyr)
ARdb_541 phenoCommon CAIS
ARdb_542 phenoCommon CAIS
ARdb_542 protEffect AR:p.(Thr801fs)
ARdb_543 phenoCommon CAIS
ARdb_543 protEffect AR:p.(Pro767Ala)
ARdb_544 phenoCommon PAIS
ARdb_544 protEffect AR:p.(Leu 769Met)
ARdb_545 phenoCommon PAIS
ARdb_545 protEffect AR:p.(Tyr572His)
ARdb_547 phenoCommon Prostate cancer
ARdb_547 protEffect AR:p.(Pro392Leu)
ARdb_548 phenoCommon Prostate cancer
ARdb_548 protEffect AR:p.(Asn224Asp)
ARdb_549 phenoCommon Prostate cancer
ARdb_549 protEffect AR:p.(Glu204Glu)
ARdb_550 phenoCommon Prostate cancer
ARdb_550 protEffect AR:p.(Ser336Pro)
ARdb_551 phenoCommon Prostate cancer
ARdb_551 protEffect AR:p.(Glu200Gly)
ARdb_552 phenoCommon Prostate cancer
ARdb_552 protEffect AR:p.(Trp742Cys)
ARdb_553 phenoCommon Prostate cancer
ARdb_553 protEffect AR:p.(Asp880Gly)
ARdb_554 phenoCommon PAIS
ARdb_554 protEffect AR:p.(Gly578Arg)
ARdb_555 phenoCommon PAIS
ARdb_555 protEffect AR:p.(Glu654Lys)
ARdb_556 phenoCommon Prostate cancer
ARdb_556 protEffect AR:p.(Ser298Arg)
ARdb_559 phenoCommon CAIS
ARdb_559 protEffect AR:p.(Asn706Tyr)
ARdb_271 phenoCommon MAIS
ARdb_563 phenoCommon CAIS
ARdb_563 protEffect AR:p.(Phe805Leu)
ARdb_566 phenoCommon Prostate cancer
ARdb_566 protEffect AR:p.(Ser178)
ARdb_567 phenoCommon Prostate cancer
ARdb_567 protEffect AR:p.(Pro515Ser)
ARdb_569 phenoCommon Prostate cancer
ARdb_569 protEffect AR:p.(Gly525Asp)
ARdb_570 phenoCommon Prostate cancer
ARdb_570 protEffect AR:p.(Pro534Ser)
ARdb_572 phenoCommon Prostate cancer
ARdb_572 protEffect AR:p.(Gly744)
ARdb_573 phenoCommon Prostate cancer
ARdb_573 protEffect AR:p.(Val758Ile)
ARdb_575 phenoCommon CAIS
ARdb_575 protEffect AR:p.(His690Pro)
ARdb_576 phenoCommon Prostate cancer
ARdb_576 protEffect AR:p.(Thr650Thr)
ARdb_577 phenoCommon Prostate cancer
ARdb_577 protEffect AR:p.(Glu710Glu)
ARdb_578 phenoCommon Prostate cancer
ARdb_578 protEffect AR:p.(Gln712Gln)
ARdb_581 phenoCommon CAIS
ARdb_581 protEffect AR:p.(Asn706Ile)
ARdb_583 phenoCommon CAIS
ARdb_583 protEffect AR:p.(Ala722fs)
ARdb_584 phenoCommon CAIS
ARdb_584 protEffect AR:p.(Ala722fs)
ARdb_163 phenoCommon PAIS
ARdb_587 phenoCommon CAIS
ARdb_587 protEffect AR:p.(Pro767fs)
ARdb_591 phenoCommon CAIS
ARdb_591 protEffect AR:p.(Ile843Asn)
ARdb_593 phenoCommon PAIS
ARdb_593 protEffect AR:p.(Ser889Lys)
ARdb_594 phenoCommon CAIS
ARdb_595 phenoCommon CAIS
ARdb_595 protEffect AR:p.(Trp742Leu)
ARdb_596 phenoCommon PAIS
ARdb_596 protEffect AR:p.(Thr801Ile)
ARdb_602 phenoCommon Prostate cancer
ARdb_602 protEffect AR:p.(Asn757Asp)
ARdb_606 phenoCommon CAIS
ARdb_606 protEffect AR:p.(Glu289*)
ARdb_609 phenoCommon PAIS
ARdb_609 protEffect AR:p.(Ser598Arg)
ARdb_609 phenoCommon Normal
ARdb_609 phenoOfficial no phenotype detected [MP:0002169]
ARdb_612 protEffect AR:p.(Gln58Leu)
ARdb_400 phenoCommon Prostate cancer
ARdb_616 phenoCommon PAIS
ARdb_616 protEffect AR:p.(Ser741Cys)
ARdb_80 phenoCommon CAIS
ARdb_618 phenoCommon CAIS
ARdb_618 protEffect AR:p.(Glu682*)
ARdb_620 phenoCommon CAIS
ARdb_620 protEffect AR:p.(Gly725Ala)
ARdb_622 phenoCommon CAIS
ARdb_622 protEffect AR:p.(Glu830fs)
ARdb_623 phenoCommon CAIS
ARdb_623 protEffect AR:p.(Ser885*)
ARdb_624 phenoCommon CAIS
ARdb_624 protEffect AR:p.(Pro39del)
ARdb_627 phenoCommon Prostate cancer
ARdb_627 protEffect AR:p.(Gly168Ser)
ARdb_628 phenoCommon Prostate cancer
ARdb_628 protEffect AR:p.(Asp733Asp)
ARdb_631 phenoCommon CAIS
ARdb_631 protEffect AR:p.(Ser121*)
ARdb_635 phenoCommon PAIS
ARdb_635 protEffect AR:p.(Trp742Cys)
ARdb_637 phenoCommon CAIS
ARdb_637 protEffect AR:p.(Leu769Val)
ARdb_642 phenoCommon PAIS
ARdb_642 protEffect AR:p.(Ile899Phe)
ARdb_646 phenoCommon CAIS
ARdb_646 protEffect AR:p.(Pro905Val)
ARdb_648 phenoCommon CAIS
ARdb_648 protEffect AR:p.(Gln799*)
ARdb_649 phenoCommon PAIS
ARdb_649 protEffect AR:p.(Gln903Lys)
ARdb_650 phenoCommon CAIS
ARdb_650 protEffect AR:p.(Tyr225*)
ARdb_368 phenoCommon PAIS
ARdb_168 phenoCommon PAIS
ARdb_666 phenoCommon CAIS
ARdb_666 protEffect AR:p.(Phe771*)
ARdb_667 phenoCommon CAIS
ARdb_667 protEffect AR:p.(Val786fs)
ARdb_672 phenoCommon CAIS
ARdb_672 protEffect AR:p(.Gln90*)
ARdb_223 phenoCommon CAIS
ARdb_685 phenoCommon PAIS
ARdb_685 protEffect AR:p.(Pro818Ala)
ARdb_119 phenoCommon Normal
ARdb_119 phenoOfficial no phenotype detected [MP:0002169]
ARdb_689 phenoCommon PAIS
ARdb_689 protEffect AR:p.(Leu411_Ser413del)
ARdb_690 phenoCommon PAIS
ARdb_690 protEffect AR:p.(Ser413Asn)
ARdb_691 phenoCommon PAIS
ARdb_691 protEffect AR:p.(Ser434Phe)
ARdb_694 phenoCommon Prostate cancer
ARdb_694 protEffect AR:p.(Gly144Val)
ARdb_695 phenoCommon Prostate cancer
ARdb_695 protEffect AR:p.(Asp223His)
ARdb_696 phenoCommon Prostate cancer
ARdb_696 protEffect AR:p.(Glu873Gln)
ARdb_697 phenoCommon Prostate cancer
ARdb_697 protEffect AR:p.(Met887Ile)
ARdb_95 phenoCommon PAIS
ARdb_706 phenoCommon PAIS
ARdb_706 protEffect AR:p.(Ser233Leu)
ARdb_379 phenoCommon PAIS
ARdb_711 phenoCommon PAIS
ARdb_711 protEffect AR:p.(Arg630Trp)
ARdb_406 phenoCommon PAIS
ARdb_719 phenoCommon PAIS
ARdb_719 protEffect AR:p.(Val582Leu)
ARdb_720 phenoCommon CAIS
ARdb_720 protEffect AR:p.(Asn600fs)
ARdb_721 phenoCommon CAIS
ARdb_721 protEffect AR:p.(Asn611fs)
ARdb_723 phenoCommon CAIS
ARdb_723 protEffect AR:p.(Ile681Thr)
ARdb_724 phenoCommon CAIS
ARdb_724 protEffect AR:p.(Pro683Ala)
ARdb_725 phenoCommon CAIS
ARdb_725 protEffect AR:p.(Leu701fs)
ARdb_726 phenoCommon CAIS
ARdb_726 protEffect AR:p.(Ile738Phe)
ARdb_136 phenoCommon CAIS
ARdb_729 phenoCommon PAIS
ARdb_729 protEffect AR:p.(Met762Thr)
ARdb_735 phenoCommon CAIS
ARdb_735 protEffect AR:p.(Arg789dup)
ARdb_736 phenoCommon PAIS
ARdb_736 protEffect AR:p.(Ala844Glu)
ARdb_751 phenoCommon CAIS
ARdb_751 protEffect AR:p.(Leu7fs)
ARdb_752 phenoCommon CAIS
ARdb_752 protEffect AR:p.(Gln734*)
ARdb_753 phenoCommon CAIS
ARdb_753 protEffect AR:p.(Leu860Phe)
ARdb_754 phenoCommon PAIS
ARdb_754 protEffect AR:p.(Glu2Lys)
ARdb_755 phenoCommon CAIS
ARdb_755 protEffect AR:p.(Met746Ile)
ARdb_328 phenoCommon Prostate cancer
ARdb_759 phenoCommon Prostate cancer
ARdb_759 protEffect AR:p.(Gly451Asp)
ARdb_760 phenoCommon Prostate cancer
ARdb_760 protEffect AR:p.(Gly453Asp)
ARdb_114 phenoCommon Prostate cancer
ARdb_763 phenoCommon Prostate cancer
ARdb_763 protEffect AR:p.(Phe748fs)
ARdb_764 phenoCommon Prostate cancer
ARdb_764 protEffect AR:p.(Ile800Thr)
ARdb_392 phenoCommon Prostate cancer
ARdb_766 phenoCommon Prostate cancer
ARdb_766 protEffect AR:p.(Met896Val)
ARdb_32 phenoCommon MAIS
ARdb_545 phenoCommon MAIS
ARdb_58 phenoCommon MAIS
ARdb_80 phenoCommon MAIS
ARdb_97 phenoCommon MAIS
ARdb_189 phenoCommon MAIS
ARdb_212 phenoCommon MAIS
ARdb_249 phenoCommon MAIS
ARdb_263 phenoCommon MAIS
ARdb_398 phenoCommon MAIS
ARdb_780 phenoCommon MAIS
ARdb_780 protEffect AR:p.(Leu272Phe)
ARdb_781 phenoCommon MAIS
ARdb_781 protEffect AR:p.(Glu355Gln)
ARdb_782 phenoCommon MAIS
ARdb_782 protEffect AR:p.(Ala475Val)
ARdb_784 phenoCommon MAIS
ARdb_784 protEffect AR:p.(Ser651Gly)
ARdb_785 phenoCommon MAIS
ARdb_785 protEffect AR:p.(Phe748Ile)
ARdb_787 protEffect AR:p.(Gln73*)
ARdb_788 phenoCommon PAIS
ARdb_788 protEffect AR:p.(Ala159Thr)
ARdb_789 protEffect AR:p.(Gly248Val)
ARdb_790 phenoCommon CAIS
ARdb_790 protEffect AR:p.(Tyr395*)
ARdb_791 protEffect AR:p.(Pro724Leu)
ARdb_792 phenoCommon PAIS
ARdb_792 protEffect AR:p.(Trp719Arg)
ARdb_793 phenoCommon CAIS
ARdb_793 protEffect AR:p.(Ser854)
ARdb_795 phenoCommon CAIS
ARdb_795 protEffect AR:p.(Met895del)
ARdb_796 phenoCommon CAIS
ARdb_796 protEffect AR:p.(Gln88*)
ARdb_797 phenoCommon CAIS
ARdb_797 protEffect AR:p.(Cys563Tyr)
ARdb_798 phenoCommon CAIS
ARdb_798 protEffect AR:p.(Gly725Val)
ARdb_799 phenoCommon CAIS
ARdb_799 protEffect AR:p.(Leu813Pro)
ARdb_800 phenoCommon CAIS
ARdb_802 phenoCommon CAIS
ARdb_802 protEffect AR:p.(Gln120*)
ARdb_283 phenoCommon Liver cancer
ARdb_804 phenoCommon Liver cancer
ARdb_804 protEffect AR:p.(Tyr481)
ARdb_805 phenoCommon Liver cancer
ARdb_805 protEffect AR:p.(Arg101His)
ARdb_806 phenoCommon Liver cancer
ARdb_806 protEffect AR:p.(Gln90His)
ARdb_807 phenoCommon Liver cancer
ARdb_807 protEffect AR:p.(Gln80)
ARdb_5 phenoCommon Liver cancer
ARdb_809 phenoCommon Prostate cancer
ARdb_811 phenoCommon CAIS
ARdb_811 protEffect AR:p.(Pro818Leu)
ARdb_815 phenoCommon Testicular cancer
ARdb_815 protEffect AR:p.(Leu57del)
ARdb_816 phenoCommon Testicular cancer
ARdb_816 protEffect AR:p.(Ala299Thr)
ARdb_338 phenoCommon Testicular cancer
ARdb_819 phenoCommon PAIS
ARdb_819 protEffect AR:p.(Glu710Lys)
ARdb_828 phenoCommon CAIS
ARdb_828 protEffect AR:p.(Gln712fs)
ARdb_829 phenoCommon CAIS
ARdb_829 protEffect AR:p.(Leu882Pro)
ARdb_835 phenoCommon PAIS
ARdb_836 phenoCommon CAIS
ARdb_836 protEffect AR:p.(Arg40fs)
ARdb_837 phenoCommon CAIS
ARdb_837 protEffect AR:p.(Lys143*)
ARdb_838 phenoCommon CAIS
ARdb_838 protEffect AR:p.(Gly168fs)
ARdb_840 phenoCommon CAIS
ARdb_842 phenoCommon CAIS
ARdb_842 protEffect AR:p.(Leu791Pro)
ARdb_487 phenoCommon PAIS
ARdb_845 protEffect AR:p.(Gly265fs)
ARdb_846 phenoCommon CAIS
ARdb_846 protEffect AR:p.(Gln67*)
ARdb_849 phenoCommon CAIS
ARdb_849 protEffect AR:p.(Gln694*)
ARdb_851 phenoCommon CAIS
ARdb_851 protEffect AR:p.(Gln868*)
ARdb_865 phenoCommon CAIS
ARdb_865 protEffect AR:p.(Phe805Ile)
ARdb_867 phenoCommon CAIS
ARdb_867 protEffect AR:p.(Thr861Asn)
ARdb_875 phenoCommon PAIS
ARdb_875 protEffect AR:p.(Phe827Leu)
ARdb_876 phenoCommon CAIS
ARdb_876 protEffect AR:p.(Tyr514*)
ARdb_877 phenoCommon CAIS
ARdb_877 protEffect AR:p.(Ala587Asp)
ARdb_880 phenoCommon PAIS
ARdb_880 protEffect AR:p.(Phe755Ser)
ARdb_881 protEffect AR:p.(Gln70Arg)
ARdb_883 phenoCommon Prostate cancer
ARdb_883 protEffect AR:p.(Glu255Lys)
ARdb_884 phenoCommon Prostate cancer
ARdb_884 protEffect AR:p.(Gly457Asp)
ARdb_885 phenoCommon Prostate cancer
ARdb_885 protEffect AR:p.(Thr229Cys)
ARdb_886 phenoCommon Prostate cancer
ARdb_886 protEffect AR:p.(Val509Leu)
ARdb_887 phenoCommon Prostate cancer
ARdb_887 protEffect AR:p.(Leu595Met)
ARdb_888 phenoCommon Prostate cancer
ARdb_888 protEffect AR:p.(Gly456Ser)
ARdb_889 phenoCommon Prostate cancer
ARdb_889 protEffect AR:p.(Trp435Leu)
ARdb_890 phenoCommon Prostate cancer
ARdb_890 protEffect AR:p.(Thr440Ile)
ARdb_891 phenoCommon Prostate cancer
ARdb_891 protEffect AR:p.(Thr498Ile)
ARdb_195 phenoCommon Prostate cancer
ARdb_893 phenoCommon CAIS
ARdb_893 protEffect AR:p.(Asp768Tyr)
ARdb_894 phenoCommon CAIS
ARdb_894 protEffect AR:p.(Gln70*)
ARdb_895 phenoCommon CAIS
ARdb_895 protEffect AR:p.(Gln76*)
ARdb_897 phenoCommon CAIS
ARdb_897 protEffect AR:p.(Leu55fs)
ARdb_898 phenoCommon CAIS
ARdb_898 protEffect AR:p.(Val109fs)
ARdb_899 phenoCommon CAIS
ARdb_899 protEffect AR:p.(Pro380fs)
ARdb_900 phenoCommon CAIS
ARdb_900 protEffect AR:p.(Tyr531fs)
ARdb_901 phenoCommon CAIS
ARdb_901 protEffect AR:p.(Thr82fs)
ARdb_902 phenoCommon CAIS
ARdb_902 protEffect AR:p.(Gln76del)
ARdb_903 phenoCommon CAIS
ARdb_903 protEffect AR:p.(Lys349fs)
ARdb_903_2 phenoCommon CAIS
ARdb_903_2 protEffect AR:p.(Gly349fs)
ARdb_905 phenoCommon CAIS
ARdb_905 protEffect AR:p.(Trp503fs)
ARdb_906 phenoCommon CAIS
ARdb_907 phenoCommon PAIS
ARdb_907 protEffect AR:p.(Gly796Gly)
ARdb_338 phenoCommon CAIS
ARdb_910 phenoCommon Prostate cancer
ARdb_910 protEffect AR:p.(Glu43Gly)
ARdb_911 phenoCommon Prostate cancer
ARdb_911 protEffect AR:p.(Ser121Ser)
ARdb_912 phenoCommon Prostate cancer
ARdb_912 protEffect AR:p.(Leu194Phe)
ARdb_913 phenoCommon Prostate cancer
ARdb_913 protEffect AR:p.(Leu194Arg)
ARdb_917 phenoCommon Prostate cancer
ARdb_917 protEffect AR:p.(Thr229Ala)
ARdb_918 phenoCommon Prostate cancer
ARdb_918 protEffect AR:p.(Ala253Val)
ARdb_919 phenoCommon Prostate cancer
ARdb_919 protEffect AR:p.(Ala358Thr)
ARdb_920 phenoCommon Prostate cancer
ARdb_920 protEffect AR:p.(Ala359Val)
ARdb_921 phenoCommon Prostate cancer
ARdb_921 protEffect AR:p.(Arg362His)
ARdb_922 phenoCommon Prostate cancer
ARdb_922 protEffect AR:p.(Gly416Ser)
ARdb_923 phenoCommon Prostate cancer
ARdb_923 protEffect AR:p.(Gly416Asp)
ARdb_925 phenoCommon Prostate cancer
ARdb_925 protEffect AR:p.(Trp435Cys)
ARdb_926 phenoCommon Prostate cancer
ARdb_926 protEffect AR:p.(Thr440Pro)
ARdb_932 phenoCommon Prostate cancer
ARdb_932 protEffect AR:p.(Ala499Thr)
ARdb_933 phenoCommon Prostate cancer
ARdb_933 protEffect AR:p.(Ala499Val)
ARdb_935 phenoCommon Prostate cancer
ARdb_935 protEffect AR:p.(Val509Gly)
ARdb_851 phenoCommon Prostate cancer
ARdb_941 phenoCommon CAIS
ARdb_941 protEffect AR:p.(Tyr858*)
ARdb_942 phenoCommon PAIS
ARdb_942 protEffect AR:p.(Ile604Asn)
ARdb_943 phenoCommon CAIS
ARdb_943 protEffect AR:p.(Pro672Ser)
ARdb_944 phenoCommon CAIS
ARdb_944 protEffect AR:p.(Gln739Arg)
ARdb_946 phenoCommon PAIS
ARdb_946 protEffect AR:p.(Cys602Ser)
ARdb_947 phenoCommon CAIS
ARdb_947 protEffect AR:p.(Glu682Asp)
ARdb_338 phenoCommon PAIS
ARdb_952 phenoCommon Prostate cancer
ARdb_952 protEffect AR:p.(Thr559Ser)
ARdb_958 phenoCommon CAIS
ARdb_958 protEffect AR:p.(Pro914Arg)
ARdb_54 phenoCommon E006AA Pros can cell line
ARdb_754 phenoCommon CAIS
ARdb_962 phenoCommon CAIS
ARdb_962 protEffect AR:p.(Glu81fs)
ARdb_963 phenoCommon CAIS
ARdb_963 protEffect AR:p.(Pro15fs)
ARdb_964 phenoCommon CAIS
ARdb_964 protEffect AR:p(.Gln86*)
ARdb_966 phenoCommon CAIS
ARdb_966 protEffect AR:p.(Ser221fs)
ARdb_967 phenoCommon CAIS
ARdb_967 protEffect AR:p.(Lys241*)
ARdb_969 phenoCommon CAIS
ARdb_969 protEffect AR:p.(Gly455Ser)
ARdb_971 phenoCommon CAIS
ARdb_971 protEffect AR:p.(Gly569Glu)
ARdb_972 phenoCommon CAIS
ARdb_972 protEffect AR:p.(Ala574Pro)
ARdb_973 phenoCommon CAIS
ARdb_973 protEffect AR:p.(Cys580Trp)
ARdb_974 phenoCommon CAIS
ARdb_974 protEffect AR:p.(Phe584Leu)
ARdb_975 phenoCommon CAIS
ARdb_975 protEffect AR:p.(Tyr594*)
ARdb_976 phenoCommon CAIS
ARdb_976 protEffect AR:p.(Cys620Arg)
ARdb_977 phenoCommon CAIS
ARdb_977 protEffect AR:p.(Asp696Tyr)
ARdb_979 phenoCommon CAIS
ARdb_979 protEffect AR:p.(Ser704Cys)
ARdb_985 phenoCommon CAIS
ARdb_985 protEffect AR:p.(Phe748Cys)
ARdb_988 phenoCommon CAIS
ARdb_988 protEffect AR:p.(Tyr782Asp)
ARdb_990 phenoCommon CAIS
ARdb_990 protEffect AR:p.(Met788Ile)
ARdb_992 phenoCommon CAIS
ARdb_992 protEffect AR:p.(Met788Ile)
ARdb_993 phenoCommon CAIS
ARdb_993 protEffect AR:p.(Gln793fs)
ARdb_996 phenoCommon CAIS
ARdb_996 protEffect AR:p.(Asn834del)
ARdb_997 phenoCommon CAIS
ARdb_997 protEffect AR:p.(Leu839Val)
ARdb_1001 phenoCommon CAIS
ARdb_1001 protEffect AR:p.(Val904Leu)
ARdb_1002 phenoCommon CAIS
ARdb_1002 protEffect AR:p.(Pro905fs)
ARdb_1003 phenoCommon PAIS
ARdb_1003 protEffect AR:p.(Pro380Arg)
ARdb_1005 phenoCommon PAIS
ARdb_1005 protEffect AR:p.(Ile681Asn)
ARdb_1007 phenoCommon PAIS
ARdb_1007 protEffect AR:p.(Met746Leu)
ARdb_1016 phenoCommon CAIS
ARdb_1017 phenoCommon CAIS
ARdb_1018 phenoCommon CAIS
ARdb_328 phenoCommon Premature ovarian failure
ARdb_1020 phenoCommon Premature ovarian failure
ARdb_1020 protEffect AR:p.(Thr650Ala)
ARdb_1021 phenoCommon Premature ovarian failure
ARdb_1021 protEffect AR:p.(Gln658Lys)
ARdb_1022 phenoCommon Premature ovarian failure
ARdb_1023 phenoCommon CAIS
ARdb_1023 protEffect AR:p.(Gly709Glu)
ARdb_1024 phenoCommon CAIS
ARdb_1024 protEffect AR:p.(Glu442*)
ARdb_1025 phenoCommon CAIS
ARdb_1025 protEffect AR:p.(Arg616Ser)
ARdb_1026 phenoCommon AIS
ARdb_1026 protEffect AR:p.(Thr878Ile)
ARdb_1028 phenoCommon CAIS
ARdb_1028 protEffect AR:p.(Asn637fs)
ARdb_1029 phenoCommon CAIS
ARdb_428 disease phenotype-associated
ARdb_142 disease phenotype-associated
ARdb_525 disease phenotype-associated
ARdb_431 disease phenotype-associated
ARdb_291 disease phenotype-associated
ARdb_42 disease phenotype-associated
ARdb_755 disease phenotype-associated
ARdb_207 disease phenotype-associated
ARdb_108 disease phenotype-associated
ARdb_595 disease phenotype-associated
ARdb_798 disease phenotype-associated
ARdb_350 disease phenotype-associated
ARdb_223 disease phenotype-associated
ARdb_799 disease phenotype-associated
ARdb_694 disease phenotype-associated
ARdb_300 disease phenotype-associated
ARdb_575 disease phenotype-associated
ARdb_386 disease phenotype-associated
ARdb_97 disease phenotype-associated
ARdb_280 disease phenotype-associated
ARdb_220 disease phenotype-associated
ARdb_118 disease phenotype-associated
ARdb_819 disease phenotype-associated
ARdb_753 disease phenotype-associated
ARdb_875 disease phenotype-associated
ARdb_44 disease phenotype-associated
ARdb_201 disease phenotype-associated
ARdb_101 disease phenotype-associated
ARdb_181 disease phenotype-associated
ARdb_96 disease phenotype-associated
ARdb_211 disease phenotype-associated
ARdb_74 disease phenotype-associated
ARdb_877 disease phenotype-associated
ARdb_379 disease phenotype-associated
ARdb_973 disease phenotype-associated
ARdb_45 disease phenotype-associated
ARdb_168 disease phenotype-associated
ARdb_263 disease phenotype-associated
ARdb_132 disease phenotype-associated
ARdb_163 disease phenotype-associated
ARdb_530 disease phenotype-associated
ARdb_78 disease phenotype-associated
ARdb_272 disease phenotype-associated
ARdb_691 disease phenotype-associated
ARdb_339 disease phenotype-associated
ARdb_65 disease phenotype-associated
ARdb_257 disease phenotype-associated
ARdb_71 disease phenotype-associated
ARdb_696 disease phenotype-associated
ARdb_63 disease phenotype-associated
ARdb_258 disease phenotype-associated
ARdb_196 disease phenotype-associated
ARdb_616 disease phenotype-associated
ARdb_880 disease phenotype-associated
ARdb_782 disease phenotype-associated
ARdb_690 disease phenotype-associated
ARdb_695 disease phenotype-associated
ARdb_54 disease phenotype-associated
ARdb_52 disease phenotype-associated
ARdb_133 disease phenotype-associated
ARdb_946 disease phenotype-associated
ARdb_129 disease phenotype-associated
ARdb_174 disease phenotype-associated
ARdb_283 disease phenotype-associated
ARdb_119 disease phenotype-associated
ARdb_809 disease phenotype-associated
ARdb_158 disease phenotype-associated
ARdb_109 disease phenotype-associated
ARdb_338 disease phenotype-associated
ARdb_383 disease phenotype-associated
ARdb_512 disease phenotype-associated
ARdb_34 disease phenotype-associated
ARdb_554 disease phenotype-associated
ARdb_139 disease phenotype-associated
ARdb_513 disease phenotype-associated
ARdb_8 disease phenotype-associated
ARdb_649 disease phenotype-associated
ARdb_292 disease phenotype-associated
ARdb_346 disease phenotype-associated
ARdb_175 disease phenotype-associated
ARdb_202 disease phenotype-associated
ARdb_105 disease phenotype-associated
ARdb_385 disease phenotype-associated
ARdb_389 disease phenotype-associated
ARdb_706 disease phenotype-associated
ARdb_39 disease phenotype-associated
ARdb_269 disease phenotype-associated
ARdb_189 disease phenotype-associated
ARdb_197 disease phenotype-associated
ARdb_689 disease phenotype-associated
ARdb_754 disease phenotype-associated
ARdb_697 disease phenotype-associated
ARdb_943 disease phenotype-associated
ARdb_944 disease phenotype-associated
ARdb_53 disease phenotype-associated
ARdb_130 disease phenotype-associated
PAH_c.1A>G commonName p.M1V
PAH_c.1A>G alias ATG/GTG
PAH_c.1A>G mutType Missense
PAH_c.1A>G protEffect M1V
PAH_c.3G>A commonName p.M1I
PAH_c.3G>A alias ATG/ATA
PAH_c.3G>A mutType Missense
PAH_c.3G>A protEffect M1I
PAH_c.1-?_168+?del commonName p.EX1_EX2del
PAH_c.1-?_168+?del alias EX1_EX2del?bp
PAH_c.1-?_168+?del mutType Deletion
PAH_c.60+5G>T commonName IVS1+5G>T
PAH_c.60+5G>T alias G/T
PAH_c.60+5G>T mutType Splice
PAH_c.117C>G commonName p.F39L
PAH_c.117C>G alias TTC/TTG
PAH_c.117C>G mutType Missense
PAH_c.117C>G protEffect F39L
PAH_c.115_117delTTC commonName p.F39del
PAH_c.115_117delTTC alias 115_117del3bp
PAH_c.115_117delTTC mutType Deletion
PAH_c.143T>C commonName p.L48S
PAH_c.143T>C alias TTG/TCG
PAH_c.143T>C mutType Missense
PAH_c.143T>C protEffect L48S
PAH_c.165delT commonName p.F55>Lfs
PAH_c.165delT alias 165del1bp
PAH_c.165delT mutType Deletion
PAH_c.121C>T commonName p.L41F
PAH_c.121C>T alias CTC/TTC
PAH_c.121C>T mutType Missense
PAH_c.121C>T protEffect L41F
PAH_c.136G>A commonName p.G46S
PAH_c.136G>A alias GGT/AGT
PAH_c.136G>A mutType Missense
PAH_c.136G>A protEffect G46S
PAH_c.168G>T commonName p.E56D
PAH_c.168G>T alias GAG/GAT
PAH_c.168G>T mutType Missense
PAH_c.168G>T protEffect E56D
PAH_[c.187A>C;c.190C>A] commonName [p.T63P;p.H64N]
PAH_[c.187A>C;c.190C>A] alias [ACC/CCC;CAC/AAC]
PAH_[c.187A>C;c.190C>A] mutType Missense
PAH_[c.168G>A;c.168+1G>A] commonName [p.E56E;IVS2+1G>A]
PAH_[c.168G>A;c.168+1G>A] alias [GAG/GAA;G/A]
PAH_[c.168G>A;c.168+1G>A] mutType Deletion
PAH_c.168+5G>T commonName IVS2+5G>T
PAH_c.168+5G>T alias G/T
PAH_c.168+5G>T mutType Splice
PAH_c.168+19T>C commonName IVS2+19T>C
PAH_c.168+19T>C alias T/C
PAH_c.168+19T>C mutType Silent
PAH_c.194T>C commonName p.I65T
PAH_c.194T>C alias ATT/ACT
PAH_c.194T>C mutType Missense
PAH_c.194T>C protEffect I65T
PAH_c.199T>C commonName p.S67P
PAH_c.199T>C alias TCT/CCT
PAH_c.199T>C mutType Missense
PAH_c.199T>C protEffect S67P
PAH_c.204A>T commonName p.R68S
PAH_c.204A>T alias AGA/AGT
PAH_c.204A>T mutType Missense
PAH_c.204A>T protEffect R68S
PAH_c.250G>T commonName p.D84Y
PAH_c.250G>T alias GAT/TAT
PAH_c.250G>T mutType Missense
PAH_c.250G>T protEffect D84Y
PAH_c.275C>T commonName p.T92I
PAH_c.275C>T alias ACA/ATA
PAH_c.275C>T mutType Missense
PAH_c.275C>T protEffect T92I
PAH_c.283_285delATC commonName p.I94del
PAH_c.283_285delATC alias 283_285del3bp
PAH_c.283_285delATC mutType Deletion
PAH_c.311C>A commonName p.A104D
PAH_c.311C>A alias GCC/GAC
PAH_c.311C>A mutType Missense
PAH_c.311C>A protEffect A104D
PAH_c.331C>T commonName p.R111X
PAH_c.331C>T alias CGA/TGA
PAH_c.331C>T mutType Nonsense
PAH_c.331C>T protEffect R111X
PAH_c.169-?_352+?del commonName p.EX3del
PAH_c.169-?_352+?del alias EX3del?bp
PAH_c.169-?_352+?del mutType Deletion
PAH_c.371C>T commonName p.T124I
PAH_c.371C>T alias ACC/ATC
PAH_c.371C>T mutType Missense
PAH_c.371C>T protEffect T124I
PAH_c.428A>G commonName p.D143G
PAH_c.428A>G alias GAT/GGT
PAH_c.428A>G mutType Missense
PAH_c.428A>G protEffect D143G
PAH_c.442-1G>A commonName IVS4-1G>A
PAH_c.442-1G>A alias G/A
PAH_c.442-1G>A mutType Splice
PAH_c.442-5C>G commonName IVS4-5C>G
PAH_c.442-5C>G alias C/G
PAH_c.442-5C>G mutType Splice
PAH_c.442G>A commonName p.G148S
PAH_c.442G>A alias GGT/AGT
PAH_c.442G>A mutType Missense
PAH_c.442G>A protEffect G148S
PAH_c.473G>A commonName p.R158Q
PAH_c.473G>A alias CGG/CAG
PAH_c.473G>A mutType Missense
PAH_c.473G>A protEffect R158Q
PAH_c.472C>T commonName p.R158W
PAH_c.472C>T alias CGG/TGG
PAH_c.472C>T mutType Missense
PAH_c.472C>T protEffect R158W
PAH_c.482T>C commonName p.F161S
PAH_c.482T>C alias TTT/TCT
PAH_c.482T>C mutType Missense
PAH_c.482T>C protEffect F161S
PAH_c.509A>G commonName p.H170R
PAH_c.509A>G alias CAT/CGT
PAH_c.509A>G mutType Missense
PAH_c.509A>G protEffect H170R
PAH_c.509+1delG commonName IVS5+1delG
PAH_c.509+1delG alias 509+1del1bp
PAH_c.509+1delG mutType Deletion
PAH_c.517C>A commonName p.P173T
PAH_c.517C>A alias CCC/ACC
PAH_c.517C>A mutType Missense
PAH_c.517C>A protEffect P173T
PAH_c.521T>C commonName p.I174T
PAH_c.521T>C alias ATC/ACC
PAH_c.521T>C mutType Missense
PAH_c.521T>C protEffect I174T
PAH_c.526C>T commonName p.R176X
PAH_c.526C>T alias CGA/TGA
PAH_c.526C>T mutType Nonsense
PAH_c.526C>T protEffect R176X
PAH_c.561G>A commonName p.W187X
PAH_c.561G>A alias TGG/TGA
PAH_c.561G>A mutType Nonsense
PAH_c.561G>A protEffect W187X
PAH_c.569T>C commonName p.V190A
PAH_c.569T>C alias GTG/GCG
PAH_c.569T>C mutType Missense
PAH_c.569T>C protEffect V190A
PAH_c.593_614del22 commonName p.Y198_E205>Cfs
PAH_c.593_614del22 alias 593_614del22bp
PAH_c.593_614del22 mutType Deletion
PAH_c.611A>G commonName p.EX6-96A>G
PAH_c.611A>G alias TAT/TGT
PAH_c.611A>G mutType Splice
PAH_c.612T>G commonName p.Y204X
PAH_c.612T>G alias TAT/TAG
PAH_c.612T>G mutType Nonsense
PAH_c.612T>G protEffect Y204X
PAH_c.632delC commonName p.P211>Hfs
PAH_c.632delC alias 631del1bp
PAH_c.632delC mutType Deletion
PAH_c.631C>A commonName p.P211T
PAH_c.631C>A alias CCA/ACA
PAH_c.631C>A mutType Missense
PAH_c.631C>A protEffect P211T
PAH_c.653G>T commonName p.G218V
PAH_c.653G>T alias GGC/GTC
PAH_c.653G>T mutType Missense
PAH_c.653G>T protEffect G218V
PAH_c.662A>G commonName p.E221G
PAH_c.662A>G alias GAA/GGA
PAH_c.662A>G mutType Missense
PAH_c.662A>G protEffect E221G
PAH_c.663_664delAG commonName p.E221_D222>Efs
PAH_c.663_664delAG alias 663_664del2bp
PAH_c.663_664delAG mutType Deletion
PAH_c.672T>G commonName p.I224M
PAH_c.672T>G alias ATT/ATG
PAH_c.672T>G mutType Missense
PAH_c.672T>G protEffect I224M
PAH_c.696A>G commonName p.Q232Q
PAH_c.696A>G alias CAA/CAG
PAH_c.696A>G mutType Silent
PAH_c.707-2A>G commonName IVS6-2A>G
PAH_c.707-2A>G alias A/G
PAH_c.707-2A>G mutType Splice
PAH_c.712A>C commonName p.T238P
PAH_c.712A>C alias ACT/CCT
PAH_c.712A>C mutType Missense
PAH_c.712A>C protEffect T238P
PAH_c.722G>A commonName p.R241H
PAH_c.722G>A alias CGC/CAC
PAH_c.722G>A mutType Missense
PAH_c.722G>A protEffect R241H
PAH_c.721C>T commonName p.R241C
PAH_c.721C>T alias CGC/TGC
PAH_c.721C>T mutType Missense
PAH_c.721C>T protEffect R241C
PAH_c.724C>T commonName p.L242F
PAH_c.724C>T alias CTC/TTC
PAH_c.724C>T mutType Missense
PAH_c.724C>T protEffect L242F
PAH_c.728G>A commonName p.R243Q
PAH_c.728G>A alias CGA/CAA
PAH_c.728G>A mutType Missense
PAH_c.728G>A protEffect R243Q
PAH_c.727C>T commonName p.R243X
PAH_c.727C>T alias CGA/TGA
PAH_c.727C>T mutType Nonsense
PAH_c.727C>T protEffect R243X
PAH_c.731C>T commonName p.P244L
PAH_c.731C>T alias CCT/CTT
PAH_c.731C>T mutType Missense
PAH_c.731C>T protEffect P244L
PAH_c.735G>A commonName p.V245V
PAH_c.735G>A alias GTG/GTA
PAH_c.735G>A mutType Silent
PAH_c.734T>A commonName p.V245E
PAH_c.734T>A alias GTG/GAG
PAH_c.734T>A mutType Missense
PAH_c.734T>A protEffect V245E
PAH_c.740G>T commonName p.G247V
PAH_c.740G>T alias GGC/GTC
PAH_c.740G>T mutType Missense
PAH_c.740G>T protEffect G247V
PAH_c.745C>T commonName p.L249F
PAH_c.745C>T alias CTT/TTT
PAH_c.745C>T mutType Missense
PAH_c.745C>T protEffect L249F
PAH_c.754C>T commonName p.R252W
PAH_c.754C>T alias CGG/TGG
PAH_c.754C>T mutType Missense
PAH_c.754C>T protEffect R252W
PAH_c.754C>G commonName p.R252G
PAH_c.754C>G alias CGG/GGG
PAH_c.754C>G mutType Missense
PAH_c.754C>G protEffect R252G
PAH_c.764T>C commonName p.L255S
PAH_c.764T>C alias TTG/TCG
PAH_c.764T>C mutType Missense
PAH_c.764T>C protEffect L255S
PAH_c.763T>G commonName p.L255V
PAH_c.763T>G alias TTG/GTG
PAH_c.763T>G mutType Missense
PAH_c.763T>G protEffect L255V
PAH_c.776C>T commonName p.A259V
PAH_c.776C>T alias GCC/GTC
PAH_c.776C>T mutType Missense
PAH_c.776C>T protEffect A259V
PAH_c.775G>A commonName p.A259T
PAH_c.775G>A alias GCC/ACC
PAH_c.775G>A mutType Missense
PAH_c.775G>A protEffect A259T
PAH_c.782G>A commonName p.R261Q
PAH_c.782G>A alias CGA/CAA
PAH_c.782G>A mutType Missense
PAH_c.782G>A protEffect R261Q
PAH_c.781C>T commonName p.R261X
PAH_c.781C>T alias CGA/TGA
PAH_c.781C>T mutType Nonsense
PAH_c.781C>T protEffect R261X
PAH_c.791A>T commonName p.H264L
PAH_c.791A>T alias CAC/CTC
PAH_c.791A>T mutType Missense
PAH_c.791A>T protEffect H264L
PAH_c.809G>A commonName p.R270K
PAH_c.809G>A alias AGA/AAA
PAH_c.809G>A mutType Missense
PAH_c.809G>A protEffect R270K
PAH_c.810A>T commonName p.R270S
PAH_c.810A>T alias AGA/AGT
PAH_c.810A>T mutType Missense
PAH_c.810A>T protEffect R270S
PAH_c.814G>T commonName p.G272X
PAH_c.814G>T alias GGA/TGA
PAH_c.814G>T mutType Nonsense
PAH_c.814G>T protEffect G272X
PAH_c.818C>T commonName p.S273F
PAH_c.818C>T alias TCC/TTC
PAH_c.818C>T mutType Missense
PAH_c.818C>T protEffect S273F
PAH_c.828G>T commonName p.M276I
PAH_c.828G>T alias ATG/ATT
PAH_c.828G>T mutType Missense
PAH_c.828G>T protEffect M276I
PAH_c.829T>G commonName p.Y277D
PAH_c.829T>G alias TAT/GAT
PAH_c.829T>G mutType Missense
PAH_c.829T>G protEffect Y277D
PAH_c.822_832del11 commonName p.K274_Y277>Nfs
PAH_c.822_832del11 alias 822_832del11bp
PAH_c.822_832del11 mutType Deletion
PAH_c.833C>A commonName p.T278N
PAH_c.833C>A alias ACC/AAC
PAH_c.833C>A mutType Missense
PAH_c.833C>A protEffect T278N
PAH_c.838G>A commonName p.E280K
PAH_c.838G>A alias GAA/AAA
PAH_c.838G>A mutType Missense
PAH_c.838G>A protEffect E280K
PAH_c.842C>T commonName p.P281L
PAH_c.842C>T alias CCT/CTT
PAH_c.842C>T mutType Missense
PAH_c.842C>T protEffect P281L
PAH_c.842+1G>A commonName IVS7+1G>A
PAH_c.842+1G>A alias G/A
PAH_c.842+1G>A mutType Splice
PAH_c.842+2T>A commonName IVS7+2T>A
PAH_c.842+2T>A alias T/A
PAH_c.842+2T>A mutType Splice
PAH_c.844G>A commonName p.D282N
PAH_c.844G>A alias GAC/AAC
PAH_c.844G>A mutType Missense
PAH_c.844G>A protEffect D282N
PAH_c.896T>G commonName p.F299C
PAH_c.896T>G alias TTT/TGT
PAH_c.896T>G mutType Missense
PAH_c.896T>G protEffect F299C
PAH_c.898G>T commonName p.A300S
PAH_c.898G>T alias GCC/TCC
PAH_c.898G>T mutType Missense
PAH_c.898G>T protEffect A300S
PAH_c.912G>A commonName p.Q304Q
PAH_c.912G>A alias CAG/CAA
PAH_c.912G>A mutType Silent
PAH_c.912+1G>A commonName IVS8+1G>A
PAH_c.912+1G>A alias G/A
PAH_c.912+1G>A mutType Splice
PAH_c.916A>G commonName p.I306V
PAH_c.916A>G alias ATT/GTT
PAH_c.916A>G mutType Missense
PAH_c.916A>G protEffect I306V
PAH_c.926C>T commonName p.A309V
PAH_c.926C>T alias GCC/GTC
PAH_c.926C>T mutType Missense
PAH_c.926C>T protEffect A309V
PAH_c.932T>C commonName p.L311P
PAH_c.932T>C alias CTG/CCG
PAH_c.932T>C mutType Missense
PAH_c.932T>C protEffect L311P
PAH_c.964G>A commonName p.A322T
PAH_c.964G>A alias GCC/ACC
PAH_c.964G>A mutType Missense
PAH_c.964G>A protEffect A322T
PAH_c.965C>G commonName p.A322G
PAH_c.965C>G alias GCC/GGC
PAH_c.965C>G mutType Missense
PAH_c.965C>G protEffect A322G
PAH_c.977G>A commonName p.W326X
PAH_c.977G>A alias TGG/TAG
PAH_c.977G>A mutType Nonsense
PAH_c.977G>A protEffect W326X
PAH_c.997C>T commonName p.L333F
PAH_c.997C>T alias CTC/TTC
PAH_c.997C>T mutType Missense
PAH_c.997C>T protEffect L333F
PAH_c.1006C>T commonName p.Q336X
PAH_c.1006C>T alias CAA/TAA
PAH_c.1006C>T mutType Nonsense
PAH_c.1006C>T protEffect Q336X
PAH_c.1024G>A commonName p.A342T
PAH_c.1024G>A alias GCA/ACA
PAH_c.1024G>A mutType Missense
PAH_c.1024G>A protEffect A342T
PAH_c.1028A>G commonName p.Y343C
PAH_c.1028A>G alias TAT/TGT
PAH_c.1028A>G mutType Missense
PAH_c.1028A>G protEffect Y343C
PAH_c.1033G>A commonName p.A345T
PAH_c.1033G>A alias GCT/ACT
PAH_c.1033G>A mutType Missense
PAH_c.1033G>A protEffect A345T
PAH_c.1038delG commonName p.G346>Gfs
PAH_c.1038delG alias 1038del1bp
PAH_c.1038delG mutType Deletion
PAH_c.1042C>G commonName p.L348V
PAH_c.1042C>G alias CTG/GTG
PAH_c.1042C>G mutType Missense
PAH_c.1042C>G protEffect L348V
PAH_c.1045T>C commonName p.S349P
PAH_c.1045T>C alias TCA/CCA
PAH_c.1045T>C mutType Missense
PAH_c.1045T>C protEffect S349P
PAH_c.1055delG commonName p.G352>Vfs
PAH_c.1055delG alias 1055del1bp
PAH_c.1055delG mutType Deletion
PAH_c.1066-11G>A commonName IVS10-11G>A
PAH_c.1066-11G>A alias G/A
PAH_c.1066-11G>A mutType Splice
PAH_c.1068C>A commonName p.Y356X
PAH_c.1068C>A alias TAC/TAA
PAH_c.1068C>A mutType Nonsense
PAH_c.1068C>A protEffect Y356X
PAH_c.1068C>G commonName p.Y356X
PAH_c.1068C>G alias TAC/TAG
PAH_c.1068C>G mutType Nonsense
PAH_c.1068C>G protEffect Y356X
PAH_c.1076C>G commonName p.S359X
PAH_c.1076C>G alias TCA/TGA
PAH_c.1076C>G mutType Nonsense
PAH_c.1076C>G protEffect S359X
PAH_c.1090_1092delCTT commonName p.L364del
PAH_c.1090_1092delCTT alias 1090_1092del3bp
PAH_c.1090_1092delCTT mutType Deletion
PAH_c.1090_1104del15 commonName p.L364_E368del
PAH_c.1090_1104del15 alias 1090_1104del15bp
PAH_c.1090_1104del15 mutType Deletion
PAH_c.1097C>A commonName p.P366H
PAH_c.1097C>A alias CCC/CAC
PAH_c.1097C>A mutType Missense
PAH_c.1097C>A protEffect P366H
PAH_c.1117_1118delGC commonName p.A373>Hfs
PAH_c.1117_1118delGC alias 1117_1118del2bp
PAH_c.1117_1118delGC mutType Deletion
PAH_c.1139C>T commonName p.T380M
PAH_c.1139C>T alias ACG/ATG
PAH_c.1139C>T mutType Missense
PAH_c.1139C>T protEffect T380M
PAH_c.1155G>C commonName p.L385L
PAH_c.1155G>C alias CTG/CTC
PAH_c.1155G>C mutType Silent
PAH_c.1162G>A commonName p.V388M
PAH_c.1162G>A alias GTG/ATG
PAH_c.1162G>A mutType Missense
PAH_c.1162G>A protEffect V388M
PAH_c.1169A>G commonName p.E390G
PAH_c.1169A>G alias GAG/GGG
PAH_c.1169A>G mutType Missense
PAH_c.1169A>G protEffect E390G
PAH_c.1181A>C commonName p.D394A
PAH_c.1181A>C alias GAT/GCT
PAH_c.1181A>C mutType Missense
PAH_c.1181A>C protEffect D394A
PAH_c.1183G>C commonName p.A395P
PAH_c.1183G>C alias GCC/CCC
PAH_c.1183G>C mutType Missense
PAH_c.1183G>C protEffect A395P
PAH_c.1197A>T commonName p.V399V
PAH_c.1197A>T alias GTA/GTT
PAH_c.1197A>T mutType Sil./Splice
PAH_c.1208C>T commonName p.A403V
PAH_c.1208C>T alias GCT/GTT
PAH_c.1208C>T mutType Missense
PAH_c.1208C>T protEffect A403V
PAH_c.1220delC commonName p.P407>Lfs
PAH_c.1220delC alias 1220del1bp
PAH_c.1220delC mutType Deletion
PAH_c.1222C>T commonName p.R408W
PAH_c.1222C>T alias CGG/TGG
PAH_c.1222C>T mutType Missense
PAH_c.1222C>T protEffect R408W
PAH_c.1223G>A commonName p.R408Q
PAH_c.1223G>A alias CGG/CAG
PAH_c.1223G>A mutType Missense
PAH_c.1223G>A protEffect R408Q
PAH_c.1238G>C commonName p.R413P
PAH_c.1238G>C alias CGC/CCC
PAH_c.1238G>C mutType Missense
PAH_c.1238G>C protEffect R413P
PAH_c.1241A>G commonName p.Y414C
PAH_c.1241A>G alias TAC/TGC
PAH_c.1241A>G mutType Missense
PAH_c.1241A>G protEffect Y414C
PAH_c.1243G>A commonName p.D415N
PAH_c.1243G>A alias GAC/AAC
PAH_c.1243G>A mutType Missense
PAH_c.1243G>A protEffect D415N
PAH_c.1252A>C commonName p.T418P
PAH_c.1252A>C alias ACC/CCC
PAH_c.1252A>C mutType Missense
PAH_c.1252A>C protEffect T418P
PAH_c.1315+1G>A commonName IVS12+1G>A
PAH_c.1315+1G>A alias G/A
PAH_c.1315+1G>A mutType Splice
PAH_c.1340C>A commonName p.A447D
PAH_c.1340C>A alias GCC/GAC
PAH_c.1340C>A mutType Missense
PAH_c.1340C>A protEffect A447D
PAH_c.58C>T commonName p.Q20X
PAH_c.58C>T alias CAG/TAG
PAH_c.58C>T mutType Nonsense
PAH_c.58C>T protEffect Q20X
PAH_c.119C>T commonName p.S40L
PAH_c.119C>T alias TCA/TTA
PAH_c.119C>T mutType Missense
PAH_c.119C>T protEffect S40L
PAH_c.359G>A commonName p.W120X
PAH_c.359G>A alias TGG/TAG
PAH_c.359G>A mutType Nonsense
PAH_c.359G>A protEffect W120X
PAH_c.460T>A commonName p.Y154N
PAH_c.460T>A alias TAC/AAC
PAH_c.460T>A mutType Missense
PAH_c.460T>A protEffect Y154N
PAH_c.514C>T commonName p.Q172X
PAH_c.514C>T alias CAG/TAG
PAH_c.514C>T mutType Nonsense
PAH_c.514C>T protEffect Q172X
PAH_c.638T>C commonName p.L213P
PAH_c.638T>C alias CTT/CCT
PAH_c.638T>C mutType Missense
PAH_c.638T>C protEffect L213P
PAH_c.673C>A commonName p.P225T
PAH_c.673C>A alias CCC/ACC
PAH_c.673C>A mutType Missense
PAH_c.673C>A protEffect P225T
PAH_c.755G>A commonName p.R252Q
PAH_c.755G>A alias CGG/CAG
PAH_c.755G>A mutType Missense
PAH_c.755G>A protEffect R252Q
PAH_c.769G>T commonName p.G257C
PAH_c.769G>T alias GGC/TGC
PAH_c.769G>T mutType Missense
PAH_c.769G>T protEffect G257C
PAH_c.782G>C commonName p.R261P
PAH_c.782G>C alias CGA/CCA
PAH_c.782G>C mutType Missense
PAH_c.782G>C protEffect R261P
PAH_c.890G>A commonName p.R297H
PAH_c.890G>A alias CGC/CAC
PAH_c.890G>A mutType Missense
PAH_c.890G>A protEffect R297H
PAH_c.941C>A commonName p.P314H
PAH_c.941C>A alias CCT/CAT
PAH_c.941C>A mutType Missense
PAH_c.941C>A protEffect P314H
PAH_c.1157A>G commonName p.Y386C
PAH_c.1157A>G alias TAT/TGT
PAH_c.1157A>G mutType Missense
PAH_c.1157A>G protEffect Y386C
PAH_c.1162G>C commonName p.V388L
PAH_c.1162G>C alias GTG/CTG
PAH_c.1162G>C mutType Missense
PAH_c.1162G>C protEffect V388L
PAH_c.1180G>C commonName p.D394H
PAH_c.1180G>C alias GAT/CAT
PAH_c.1180G>C mutType Missense
PAH_c.1180G>C protEffect D394H
PAH_c.1184C>G commonName p.A395G
PAH_c.1184C>G alias GCC/GGC
PAH_c.1184C>G mutType Missense
PAH_c.1184C>G protEffect A395G
PAH_c.1198delA commonName p.R400>Gfs
PAH_c.1198delA alias 1198del1bp
PAH_c.1198delA mutType Deletion
PAH_c.1089delG commonName p.K363>Nfs
PAH_c.1089delG alias 1089del1bp
PAH_c.1089delG mutType Deletion
PAH_c.1129delT commonName p.Y377>Tfs
PAH_c.1129delT alias 1129del1bp
PAH_c.1129delT mutType Deletion
PAH_c.168+6T>G commonName IVS2+6T>G
PAH_c.168+6T>G alias T/G
PAH_c.168+6T>G mutType Splice
PAH_c.509+1G>A commonName IVS5+1G>A
PAH_c.509+1G>A alias G/A
PAH_c.509+1G>A mutType Splice
PAH_c.842+5G>A commonName IVS7+5G>A
PAH_c.842+5G>A alias G/A
PAH_c.842+5G>A mutType Splice
PAH_c.1065+1G>A commonName IVS10+1G>A
PAH_c.1065+1G>A alias G/A
PAH_c.1065+1G>A mutType Splice
PAH_c.1199+1G>A commonName IVS11+1G>A
PAH_c.1199+1G>A alias G/A
PAH_c.1199+1G>A mutType Splice
PAH_c.1242C>T commonName p.Y414Y
PAH_c.1242C>T alias TAC/TAT
PAH_c.1242C>T mutType Silent
PAH_c.581T>C commonName p.L194P
PAH_c.581T>C alias CTG/CCG
PAH_c.581T>C mutType Missense
PAH_c.581T>C protEffect L194P
PAH_c.734T>C commonName p.V245A
PAH_c.734T>C alias GTG/GCG
PAH_c.734T>C mutType Missense
PAH_c.734T>C protEffect V245A
PAH_c.826A>G commonName p.M276V
PAH_c.826A>G alias ATG/GTG
PAH_c.826A>G mutType Missense
PAH_c.826A>G protEffect M276V
PAH_c.926C>A commonName p.A309D
PAH_c.926C>A alias GCC/GAC
PAH_c.926C>A mutType Missense
PAH_c.926C>A protEffect A309D
PAH_c.1012G>T commonName p.D338Y
PAH_c.1012G>T alias GAC/TAC
PAH_c.1012G>T mutType Missense
PAH_c.1012G>T protEffect D338Y
PAH_c.140C>T commonName p.A47V
PAH_c.140C>T alias GCA/GTA
PAH_c.140C>T mutType Missense
PAH_c.140C>T protEffect A47V
PAH_c.261C>A commonName p.S87R
PAH_c.261C>A alias AGC/AGA
PAH_c.261C>A mutType Missense
PAH_c.261C>A protEffect S87R
PAH_c.527G>T commonName p.R176L
PAH_c.527G>T alias CGA/CTA
PAH_c.527G>T mutType Missense
PAH_c.527G>T protEffect R176L
PAH_c.533A>G commonName p.E178G
PAH_c.533A>G alias GAA/GGA
PAH_c.533A>G mutType Missense
PAH_c.533A>G protEffect E178G
PAH_c.688G>A commonName p.V230I
PAH_c.688G>A alias GTT/ATT
PAH_c.688G>A mutType Missense
PAH_c.688G>A protEffect V230I
PAH_c.1065+3A>G commonName IVS10+3A>G
PAH_c.1065+3A>G alias A/G
PAH_c.1065+3A>G mutType Splice
PAH_c.1022A>G commonName p.K341R
PAH_c.1022A>G alias AAG/AGG
PAH_c.1022A>G mutType Missense
PAH_c.1022A>G protEffect K341R
PAH_c.1039C>T commonName p.L347F
PAH_c.1039C>T alias CTC/TTC
PAH_c.1039C>T mutType Missense
PAH_c.1039C>T protEffect L347F
PAH_c.1066-3C>T commonName IVS10-3C>T
PAH_c.1066-3C>T alias C/T
PAH_c.1066-3C>T mutType Splice
PAH_c.691T>C commonName p.S231P
PAH_c.691T>C alias TCT/CCT
PAH_c.691T>C mutType Missense
PAH_c.691T>C protEffect S231P
PAH_c.806delT commonName p.I269>Tfs
PAH_c.806delT alias 806del1bp
PAH_c.806delT mutType Deletion
PAH_c.830A>G commonName p.Y277C
PAH_c.830A>G alias TAT/TGT
PAH_c.830A>G mutType Missense
PAH_c.830A>G protEffect Y277C
PAH_c.832A>G commonName p.T278A
PAH_c.832A>G alias ACC/GCC
PAH_c.832A>G mutType Missense
PAH_c.832A>G protEffect T278A
PAH_c.1047_1048insGTCA commonName p.S349_S350>VIfs
PAH_c.1047_1048insGTCA alias 1047_1048ins4bp
PAH_c.1047_1048insGTCA mutType Insertion
PAH_c.649T>G commonName p.C217G
PAH_c.649T>G alias TGT/GGT
PAH_c.649T>G mutType Missense
PAH_c.649T>G protEffect C217G
PAH_c.743T>G commonName p.L248R
PAH_c.743T>G alias CTG/CGG
PAH_c.743T>G mutType Missense
PAH_c.743T>G protEffect L248R
PAH_c.1114A>T commonName p.T372S
PAH_c.1114A>T alias ACA/TCA
PAH_c.1114A>T mutType Missense
PAH_c.1114A>T protEffect T372S
PAH_c.811C>T commonName p.H271Y
PAH_c.811C>T alias CAT/TAT
PAH_c.811C>T mutType Missense
PAH_c.811C>T protEffect H271Y
PAH_c.913-7A>G commonName IVS8-7A>G
PAH_c.913-7A>G alias A/G
PAH_c.913-7A>G mutType Splice
PAH_c.929C>T commonName p.S310F
PAH_c.929C>T alias TCT/TTT
PAH_c.929C>T mutType Missense
PAH_c.929C>T protEffect S310F
PAH_c.1130A>G commonName p.Y377C
PAH_c.1130A>G alias TAC/TGC
PAH_c.1130A>G mutType Missense
PAH_c.1130A>G protEffect Y377C
PAH_c.441+1G>A commonName IVS4+1G>A
PAH_c.441+1G>A alias G/A
PAH_c.441+1G>A mutType Splice
PAH_c.-71A>C commonName -71A>C
PAH_c.-71A>C alias A/C
PAH_c.-71A>C mutType Silent
PAH_c.293T>C commonName p.L98S
PAH_c.293T>C alias TTG/TCG
PAH_c.293T>C mutType Missense
PAH_c.293T>C protEffect L98S
PAH_c.847A>T commonName p.I283F
PAH_c.847A>T alias ATC/TTC
PAH_c.847A>T mutType Missense
PAH_c.847A>T protEffect I283F
PAH_c.168+5G>C commonName IVS2+5G>C
PAH_c.168+5G>C alias G/C
PAH_c.168+5G>C mutType Splice
PAH_c.616T>G commonName p.Y206D
PAH_c.616T>G alias TAC/GAC
PAH_c.616T>G mutType Missense
PAH_c.616T>G protEffect Y206D
PAH_c.137delG commonName p.G46>Vfs
PAH_c.137delG alias 137del1bp
PAH_c.137delG mutType Deletion
PAH_c.509+54C>G commonName IVS5+54C>G
PAH_c.509+54C>G alias C/G
PAH_c.509+54C>G mutType Silent
PAH_c.227A>C commonName p.E76A
PAH_c.227A>C alias GAG/GCG
PAH_c.227A>C mutType Missense
PAH_c.227A>C protEffect E76A
PAH_c.722G>T commonName p.R241L
PAH_c.722G>T alias CGC/CTC
PAH_c.722G>T mutType Missense
PAH_c.722G>T protEffect R241L
PAH_c.911A>G commonName p.Q304R
PAH_c.911A>G alias CAG/CGG
PAH_c.911A>G mutType Missense
PAH_c.911A>G protEffect Q304R
PAH_c.1001G>C commonName p.C334S
PAH_c.1001G>C alias TGC/TCC
PAH_c.1001G>C mutType Missense
PAH_c.1001G>C protEffect C334S
PAH_c.1198A>C commonName p.R400R
PAH_c.1198A>C alias AGG/CGG
PAH_c.1198A>C mutType Silent
PAH_c.509+5delG commonName IVS5+5delG
PAH_c.509+5delG alias 509+5del1bp
PAH_c.509+5delG mutType Deletion
PAH_c.411C>T commonName p.S137S
PAH_c.411C>T alias AGC/AGT
PAH_c.411C>T mutType Silent
PAH_c.-224G>A commonName -224G>A
PAH_c.-224G>A alias G/A
PAH_c.-224G>A mutType Silent
PAH_c.-147C>T commonName -147C>T
PAH_c.-147C>T alias C/T
PAH_c.-147C>T mutType Silent
PAH_c.789C>G commonName p.F263L
PAH_c.789C>G alias TTC/TTG
PAH_c.789C>G mutType Missense
PAH_c.789C>G protEffect F263L
PAH_c.970-6T>G commonName IVS9-6T>G
PAH_c.970-6T>G alias T/G
PAH_c.970-6T>G mutType Splice
PAH_c.491T>C commonName p.I164T
PAH_c.491T>C alias ATT/ACT
PAH_c.491T>C mutType Missense
PAH_c.491T>C protEffect I164T
PAH_c.512G>C commonName p.G171A
PAH_c.512G>C alias GGG/GCG
PAH_c.512G>C mutType Missense
PAH_c.512G>C protEffect G171A
PAH_c.715G>A commonName p.G239S
PAH_c.715G>A alias GGT/AGT
PAH_c.715G>A mutType Missense
PAH_c.715G>A protEffect G239S
PAH_c.991T>C commonName p.F331L
PAH_c.991T>C alias TTT/CTT
PAH_c.991T>C mutType Missense
PAH_c.991T>C protEffect F331L
PAH_c.602A>G commonName p.H201R
PAH_c.602A>G alias CAT/CGT
PAH_c.602A>G mutType Missense
PAH_c.602A>G protEffect H201R
PAH_c.451G>C commonName p.D151H
PAH_c.451G>C alias GAT/CAT
PAH_c.451G>C mutType Missense
PAH_c.451G>C protEffect D151H
PAH_c.165T>G commonName p.F55L
PAH_c.165T>G alias TTT/TTG
PAH_c.165T>G mutType Missense
PAH_c.165T>G protEffect F55L
PAH_c.436C>T commonName p.H146Y
PAH_c.436C>T alias CAC/TAC
PAH_c.436C>T mutType Missense
PAH_c.436C>T protEffect H146Y
PAH_c.793T>G commonName p.C265G
PAH_c.793T>G alias TGC/GGC
PAH_c.793T>G mutType Missense
PAH_c.793T>G protEffect C265G
PAH_c.1048T>A commonName p.S350T
PAH_c.1048T>A alias TCC/ACC
PAH_c.1048T>A mutType Missense
PAH_c.1048T>A protEffect S350T
PAH_c.1043_1053del11 commonName p.L348_F351>Rfs
PAH_c.1043_1053del11 alias 1043_1053del11bp
PAH_c.1043_1053del11 mutType Deletion
PAH_c.1237C>A commonName p.R413S
PAH_c.1237C>A alias CGC/AGC
PAH_c.1237C>A mutType Missense
PAH_c.1237C>A protEffect R413S
PAH_c.479A>C commonName p.Q160P
PAH_c.479A>C alias CAG/CCG
PAH_c.479A>C mutType Missense
PAH_c.479A>C protEffect Q160P
PAH_c.1159T>C commonName p.Y387H
PAH_c.1159T>C alias TAC/CAC
PAH_c.1159T>C mutType Missense
PAH_c.1159T>C protEffect Y387H
PAH_c.529G>C commonName p.V177L
PAH_c.529G>C alias GTG/CTG
PAH_c.529G>C mutType Missense
PAH_c.529G>C protEffect V177L
PAH_c.889C>T commonName p.R297C
PAH_c.889C>T alias CGC/TGC
PAH_c.889C>T mutType Missense
PAH_c.889C>T protEffect R297C
PAH_c.1196_1199delTAAG commonName p.V399_R400>Gfs
PAH_c.1196_1199delTAAG alias 1196_1199del4bp
PAH_c.1196_1199delTAAG mutType Deletion
PAH_c.353-6T>A commonName IVS3-6T>A
PAH_c.353-6T>A alias T/A
PAH_c.353-6T>A mutType Splice
PAH_c.353-22C>T commonName IVS3-22C>T
PAH_c.353-22C>T alias C/T
PAH_c.353-22C>T mutType Silent
PAH_c.590_612del23 commonName p.L197_Y204>XfsX1
PAH_c.590_612del23 alias 590_612del23bp
PAH_c.590_612del23 mutType Deletion
PAH_c.168+1G>A commonName IVS2+1G>A
PAH_c.168+1G>A alias G/A
PAH_c.168+1G>A mutType Splice
PAH_c.523C>G commonName p.P175A
PAH_c.523C>G alias CCT/GCT
PAH_c.523C>G mutType Missense
PAH_c.523C>G protEffect P175A
PAH_c.398_401delATCA commonName p.N133_Q134>Rfs
PAH_c.398_401delATCA alias 398_401del4bp
PAH_c.398_401delATCA mutType Deletion
PAH_c.385G>T commonName p.D129Y
PAH_c.385G>T alias GAC/TAC
PAH_c.385G>T mutType Missense
PAH_c.385G>T protEffect D129Y
PAH_c.969+6T>A commonName IVS9+6T>A
PAH_c.969+6T>A alias T/A
PAH_c.969+6T>A mutType Splice
PAH_c.1289T>C commonName p.L430P
PAH_c.1289T>C alias CTT/CCT
PAH_c.1289T>C mutType Missense
PAH_c.1289T>C protEffect L430P
PAH_c.1033G>T commonName p.A345S
PAH_c.1033G>T alias GCT/TCT
PAH_c.1033G>T mutType Missense
PAH_c.1033G>T protEffect A345S
PAH_c.733G>C commonName p.V245L
PAH_c.733G>C alias GTG/CTG
PAH_c.733G>C mutType Missense
PAH_c.733G>C protEffect V245L
PAH_c.46T>C commonName p.S16P
PAH_c.46T>C alias TCT/CCT
PAH_c.46T>C mutType Missense
PAH_c.46T>C protEffect S16P
PAH_c.635T>C commonName p.L212P
PAH_c.635T>C alias CTT/CCT
PAH_c.635T>C mutType Missense
PAH_c.635T>C protEffect L212P
PAH_c.527G>C commonName p.R176P
PAH_c.527G>C alias CGA/CCA
PAH_c.527G>C mutType Missense
PAH_c.527G>C protEffect R176P
PAH_c.1066_1067ins6 commonName p.Y356delins???
PAH_c.1066_1067ins6 alias 1066_1067ins6bp
PAH_c.1066_1067ins6 mutType Insertion
PAH_c.970-2A>C commonName IVS9-2A>C
PAH_c.970-2A>C alias A/C
PAH_c.970-2A>C mutType Splice
PAH_c.907T>C commonName p.S303P
PAH_c.907T>C alias TCC/CCC
PAH_c.907T>C mutType Missense
PAH_c.907T>C protEffect S303P
PAH_c.1021A>T commonName p.K341X
PAH_c.1021A>T alias AAG/TAG
PAH_c.1021A>T mutType Nonsense
PAH_c.1021A>T protEffect K341X
PAH_c.618C>G commonName p.Y206X
PAH_c.618C>G alias TAC/TAG
PAH_c.618C>G mutType Nonsense
PAH_c.618C>G protEffect Y206X
PAH_c.266_267insC commonName p.P89>Pfs
PAH_c.266_267insC alias 266_267ins1bp
PAH_c.266_267insC mutType Insertion
PAH_c.1099_1100insC commonName p.L367>Pfs
PAH_c.1099_1100insC alias 1099_1100ins1bp
PAH_c.1099_1100insC mutType Insertion
PAH_c.899C>T commonName p.A300V
PAH_c.899C>T alias GCC/GTC
PAH_c.899C>T mutType Missense
PAH_c.899C>T protEffect A300V
PAH_c.500A>T commonName p.N167I
PAH_c.500A>T alias AAC/ATC
PAH_c.500A>T mutType Missense
PAH_c.500A>T protEffect N167I
PAH_c.737C>A commonName p.A246D
PAH_c.737C>A alias GCT/GAT
PAH_c.737C>A mutType Missense
PAH_c.737C>A protEffect A246D
PAH_c.674C>G commonName p.P225R
PAH_c.674C>G alias CCC/CGC
PAH_c.674C>G mutType Missense
PAH_c.674C>G protEffect P225R
PAH_c.601C>T commonName p.H201Y
PAH_c.601C>T alias CAT/TAT
PAH_c.601C>T mutType Missense
PAH_c.601C>T protEffect H201Y
PAH_c.1022A>C commonName p.K341T
PAH_c.1022A>C alias AAG/ACG
PAH_c.1022A>C mutType Missense
PAH_c.1022A>C protEffect K341T
PAH_c.1010G>T commonName p.G337V
PAH_c.1010G>T alias GGA/GTA
PAH_c.1010G>T mutType Missense
PAH_c.1010G>T protEffect G337V
PAH_c.558_559delAT commonName p.T186_W187>Tfs
PAH_c.558_559delAT alias 558_559del2bp
PAH_c.558_559delAT mutType Deletion
PAH_c.699C>A commonName p.F233L
PAH_c.699C>A alias TTC/TTA
PAH_c.699C>A mutType Missense
PAH_c.699C>A protEffect F233L
PAH_c.665A>T commonName p.D222V
PAH_c.665A>T alias GAT/GTT
PAH_c.665A>T mutType Missense
PAH_c.665A>T protEffect D222V
PAH_c.125A>T commonName p.K42I
PAH_c.125A>T alias AAA/ATA
PAH_c.125A>T mutType Missense
PAH_c.125A>T protEffect K42I
PAH_[c.470G>A;c.471A>C] commonName p.R157N
PAH_[c.470G>A;c.471A>C] alias AGA/AAC
PAH_[c.470G>A;c.471A>C] mutType Missense
PAH_c.648C>G commonName p.Y216X
PAH_c.648C>G alias TAC/TAG
PAH_c.648C>G mutType Nonsense
PAH_c.648C>G protEffect Y216X
PAH_c.511G>A commonName p.G171R
PAH_c.511G>A alias GGG/AGG
PAH_c.511G>A mutType Missense
PAH_c.511G>A protEffect G171R
PAH_c.992T>G commonName p.F331C
PAH_c.992T>G alias TTT/TGT
PAH_c.992T>G mutType Missense
PAH_c.992T>G protEffect F331C
PAH_c.960G>C commonName p.K320N
PAH_c.960G>C alias AAG/AAC
PAH_c.960G>C mutType Missense
PAH_c.960G>C protEffect K320N
PAH_c.434A>T commonName p.D145V
PAH_c.434A>T alias GAC/GTC
PAH_c.434A>T mutType Missense
PAH_c.434A>T protEffect D145V
PAH_c.1199+1G>C commonName IVS11+1G>C
PAH_c.1199+1G>C alias G/C
PAH_c.1199+1G>C mutType Splice
PAH_c.982A>G commonName p.T328A
PAH_c.982A>G alias ACT/GCT
PAH_c.982A>G mutType Missense
PAH_c.982A>G protEffect T328A
PAH_c.241A>C commonName p.T81P
PAH_c.241A>C alias ACC/CCC
PAH_c.241A>C mutType Missense
PAH_c.241A>C protEffect T81P
PAH_c.1199+20G>C commonName IVS11+20G>C
PAH_c.1199+20G>C alias G/C
PAH_c.1199+20G>C mutType Splice
PAH_c.208_210delTCT commonName p.S70del
PAH_c.208_210delTCT alias 208_210del3bp
PAH_c.208_210delTCT mutType Deletion
PAH_c.922C>G commonName p.L308V
PAH_c.922C>G alias CTT/GTT
PAH_c.922C>G mutType Missense
PAH_c.922C>G protEffect L308V
PAH_c.843-2A>T commonName IVS7-2A>T
PAH_c.843-2A>T alias A/T
PAH_c.843-2A>T mutType Splice
PAH_c.1316-5T>C commonName IVS12-5T>C
PAH_c.1316-5T>C alias T/C
PAH_c.1316-5T>C mutType Silent
PAH_c.1316-35C>T commonName IVS12-35C>T
PAH_c.1316-35C>T alias C/T
PAH_c.1316-35C>T mutType Silent
PAH_c.1315+2T>C commonName IVS12+2T>C
PAH_c.1315+2T>C alias T/C
PAH_c.1315+2T>C mutType Splice
PAH_c.907T>G commonName p.S303A
PAH_c.907T>G alias TCC/GCC
PAH_c.907T>G mutType Missense
PAH_c.907T>G protEffect S303A
PAH_c.30C>G commonName p.G10G
PAH_c.30C>G alias GGC/GGG
PAH_c.30C>G mutType Silent
PAH_c.563delG commonName p.G188>Afs
PAH_c.563delG alias 563del1bp
PAH_c.563delG mutType Deletion
PAH_c.609C>T commonName p.C203C
PAH_c.609C>T alias TGC/TGT
PAH_c.609C>T mutType Silent
PAH_c.1200-8G>A commonName IVS11-8G>A
PAH_c.1200-8G>A alias G/A
PAH_c.1200-8G>A mutType Splice
PAH_c.833C>T commonName p.T278I
PAH_c.833C>T alias ACC/ATC
PAH_c.833C>T mutType Missense
PAH_c.833C>T protEffect T278I
PAH_c.47_48delCT commonName p.S16>XfsX1
PAH_c.47_48delCT alias 47_48del2bp
PAH_c.47_48delCT mutType Deletion
PAH_c.802T>C commonName p.Y268H
PAH_c.802T>C alias TAC/CAC
PAH_c.802T>C mutType Missense
PAH_c.802T>C protEffect Y268H
PAH_c.913-5T>G commonName IVS8-5T>G
PAH_c.913-5T>G alias T/G
PAH_c.913-5T>G mutType Splice
PAH_c.1028A>T commonName p.Y343F
PAH_c.1028A>T alias TAT/TTT
PAH_c.1028A>T mutType Missense
PAH_c.1028A>T protEffect Y343F
PAH_c.-1C>T commonName -1C>T
PAH_c.-1C>T alias C/T
PAH_c.-1C>T mutType Silent
PAH_c.545A>G commonName p.E182G
PAH_c.545A>G alias GAA/GGA
PAH_c.545A>G mutType Missense
PAH_c.545A>G protEffect E182G
PAH_c.895_897delTTT commonName p.F299del
PAH_c.895_897delTTT alias 895_897del3bp
PAH_c.895_897delTTT mutType Deletion
PAH_c.967_969delACA commonName p.T323del
PAH_c.967_969delACA alias 967_969del3bp
PAH_c.967_969delACA mutType Deletion
PAH_c.1112A>G commonName p.K371R
PAH_c.1112A>G alias AAG/AGG
PAH_c.1112A>G mutType Missense
PAH_c.1112A>G protEffect K371R
PAH_c.157C>T commonName p.R53C
PAH_c.157C>T alias CGC/TGC
PAH_c.157C>T mutType Missense
PAH_c.157C>T protEffect R53C
PAH_c.140C>A commonName p.A47E
PAH_c.140C>A alias GCA/GAA
PAH_c.140C>A mutType Missense
PAH_c.140C>A protEffect A47E
PAH_c.707-1G>A commonName IVS6-1G>A
PAH_c.707-1G>A alias G/A
PAH_c.707-1G>A mutType Splice
PAH_c.265C>T commonName p.P89S
PAH_c.265C>T alias CCT/TCT
PAH_c.265C>T mutType Missense
PAH_c.265C>T protEffect P89S
PAH_c.608G>A commonName p.C203Y
PAH_c.608G>A alias TGC/TAC
PAH_c.608G>A mutType Missense
PAH_c.608G>A protEffect C203Y
PAH_c.207_209delTTC commonName p.P69_S70delinsP
PAH_c.207_209delTTC alias 207_209del3bp
PAH_c.207_209delTTC mutType Deletion
PAH_c.559T>C commonName p.W187R
PAH_c.559T>C alias TGG/CGG
PAH_c.559T>C mutType Missense
PAH_c.559T>C protEffect W187R
PAH_c.970-5T>A commonName IVS9-5T>A
PAH_c.970-5T>A alias T/A
PAH_c.970-5T>A mutType Splice
PAH_c.970-6T>G;c.969_970ins78 commonName IVS9-1_-78Altsplice
PAH_c.970-6T>G;c.969_970ins78 alias [T/G;969_970ins78bp]
PAH_c.970-6T>G;c.969_970ins78 mutType Splice
PAH_c.1264G>A commonName p.E422K
PAH_c.1264G>A alias GAG/AAG
PAH_c.1264G>A mutType Missense
PAH_c.1264G>A protEffect E422K
PAH_c.365C>A commonName p.P122Q
PAH_c.365C>A alias CCA/CAA
PAH_c.365C>A mutType Missense
PAH_c.365C>A protEffect P122Q
PAH_c.386A>G commonName p.D129G
PAH_c.386A>G alias GAC/GGC
PAH_c.386A>G mutType Missense
PAH_c.386A>G protEffect D129G
PAH_c.439C>T commonName p.P147S
PAH_c.439C>T alias CCT/TCT
PAH_c.439C>T mutType Missense
PAH_c.439C>T protEffect P147S
PAH_c.452A>G commonName p.D151G
PAH_c.452A>G alias GAT/GGT
PAH_c.452A>G mutType Missense
PAH_c.452A>G protEffect D151G
PAH_c.493G>A commonName p.A165T
PAH_c.493G>A alias GCC/ACC
PAH_c.493G>A mutType Missense
PAH_c.493G>A protEffect A165T
PAH_c.586_608del23 commonName p.S196_C203>Lfs
PAH_c.586_608del23 alias 586_608del23bp
PAH_c.586_608del23 mutType Deletion
PAH_c.769G>A commonName p.G257S
PAH_c.769G>A alias GGC/AGC
PAH_c.769G>A mutType Missense
PAH_c.769G>A protEffect G257S
PAH_c.1046C>T commonName p.S349L
PAH_c.1046C>T alias TCA/TTA
PAH_c.1046C>T mutType Missense
PAH_c.1046C>T protEffect S349L
PAH_c.940delC commonName p.P314>Lfs
PAH_c.940delC alias 940del1bp
PAH_c.940delC mutType Deletion
PAH_c.1219C>T commonName p.P407S
PAH_c.1219C>T alias CCT/TCT
PAH_c.1219C>T mutType Missense
PAH_c.1219C>T protEffect P407S
PAH_c.770G>A commonName p.G257D
PAH_c.770G>A alias GGC/GAC
PAH_c.770G>A mutType Missense
PAH_c.770G>A protEffect G257D
PAH_c.510-6T>G commonName IVS5-6T>G
PAH_c.510-6T>G alias T/G
PAH_c.510-6T>G mutType Splice
PAH_c.1024G>C commonName p.A342P
PAH_c.1024G>C alias GCA/CCA
PAH_c.1024G>C mutType Missense
PAH_c.1024G>C protEffect A342P
PAH_c.716G>C commonName p.G239A
PAH_c.716G>C alias GGT/GCT
PAH_c.716G>C mutType Missense
PAH_c.716G>C protEffect G239A
PAH_c.810_814del5 commonName p.R270_G272>Rfs
PAH_c.810_814del5 alias 810_814del5bp
PAH_c.810_814del5 mutType Deletion
PAH_c.329C>T commonName p.S110L
PAH_c.329C>T alias TCA/TTA
PAH_c.329C>T mutType Missense
PAH_c.329C>T protEffect S110L
PAH_c.168+5G>A commonName IVS2+5G>A
PAH_c.168+5G>A alias G/A
PAH_c.168+5G>A mutType Splice
PAH_c.665A>G commonName p.D222G
PAH_c.665A>G alias GAT/GGT
PAH_c.665A>G mutType Missense
PAH_c.665A>G protEffect D222G
PAH_c.1066T>C commonName p.Y356H
PAH_c.1066T>C alias TAC/CAC
PAH_c.1066T>C mutType Missense
PAH_c.1066T>C protEffect Y356H
PAH_c.441+5G>T commonName IVS4+5G>T
PAH_c.441+5G>T alias G/T
PAH_c.441+5G>T mutType Splice
PAH_c.1200-1G>A commonName IVS11-1G>A
PAH_c.1200-1G>A alias G/A
PAH_c.1200-1G>A mutType Splice
PAH_c.671T>C commonName p.I224T
PAH_c.671T>C alias ATT/ACT
PAH_c.671T>C mutType Missense
PAH_c.671T>C protEffect I224T
PAH_c.131_133delAAG commonName p.E44_V45delinsV
PAH_c.131_133delAAG alias 131_133del3bp
PAH_c.131_133delAAG mutType Deletion
PAH_c.842+3G>C commonName IVS7+3G>C
PAH_c.842+3G>C alias G/C
PAH_c.842+3G>C mutType Splice
PAH_c.232G>A commonName p.E78K
PAH_c.232G>A alias GAA/AAA
PAH_c.232G>A mutType Missense
PAH_c.232G>A protEffect E78K
PAH_c.864G>C commonName p.L288F
PAH_c.864G>C alias TTG/TTC
PAH_c.864G>C mutType Missense
PAH_c.864G>C protEffect L288F
PAH_c.556delA commonName p.T186>Hfs
PAH_c.556delA alias 556fsdel1bp
PAH_c.556delA mutType Deletion
PAH_c.1237C>T commonName p.R413C
PAH_c.1237C>T alias CGC/TGC
PAH_c.1237C>T mutType Missense
PAH_c.1237C>T protEffect R413C
PAH_c.493G>C commonName p.A165P
PAH_c.493G>C alias GCC/CCC
PAH_c.493G>C mutType Missense
PAH_c.493G>C protEffect A165P
PAH_c.1084C>A commonName p.P362T
PAH_c.1084C>A alias CCA/ACA
PAH_c.1084C>A mutType Missense
PAH_c.1084C>A protEffect P362T
PAH_c.1163_1164delTG commonName p.V388>Gfs
PAH_c.1163_1164delTG alias 1163_1164del2bp
PAH_c.1163_1164delTG mutType Deletion
PAH_c.155T>C commonName p.L52S
PAH_c.155T>C alias TTG/TCG
PAH_c.155T>C mutType Missense
PAH_c.155T>C protEffect L52S
PAH_c.158G>A commonName p.R53H
PAH_c.158G>A alias CGC/CAC
PAH_c.158G>A mutType Missense
PAH_c.158G>A protEffect R53H
PAH_c.208T>C commonName p.S70P
PAH_c.208T>C alias TCT/CCT
PAH_c.208T>C mutType Missense
PAH_c.208T>C protEffect S70P
PAH_c.231T>G commonName p.Y77X
PAH_c.231T>G alias TAT/TAG
PAH_c.231T>G mutType Nonsense
PAH_c.231T>G protEffect Y77X
PAH_c.1066-14C>G commonName IVS10-14C>G
PAH_c.1066-14C>G alias C/G
PAH_c.1066-14C>G mutType Splice
PAH_c.794G>A commonName p.C265Y
PAH_c.794G>A alias TGC/TAC
PAH_c.794G>A mutType Missense
PAH_c.794G>A protEffect C265Y
PAH_c.561G>C commonName p.W187C
PAH_c.561G>C alias TGG/TGC
PAH_c.561G>C mutType Missense
PAH_c.561G>C protEffect W187C
PAH_c.442-?_706+?del commonName p.EX5_EX6del
PAH_c.442-?_706+?del alias 442-?_706+?del?bp
PAH_c.442-?_706+?del mutType Deletion
PAH_c.718T>G commonName p.F240V
PAH_c.718T>G alias TTC/GTC
PAH_c.718T>G mutType Missense
PAH_c.718T>G protEffect F240V
PAH_c.746T>A commonName p.L249H
PAH_c.746T>A alias CTT/CAT
PAH_c.746T>A mutType Missense
PAH_c.746T>A protEffect L249H
PAH_c.760T>A commonName p.F254I
PAH_c.760T>A alias TTC/ATC
PAH_c.760T>A mutType Missense
PAH_c.760T>A protEffect F254I
PAH_c.770G>T commonName p.G257V
PAH_c.770G>T alias GGC/GTC
PAH_c.770G>T mutType Missense
PAH_c.770G>T protEffect G257V
PAH_c.743T>C commonName p.L248P
PAH_c.743T>C alias CTG/CCG
PAH_c.743T>C mutType Missense
PAH_c.743T>C protEffect L248P
PAH_c.169-13T>G commonName IVS2-13T>G
PAH_c.169-13T>G alias T/G
PAH_c.169-13T>G mutType Splice
PAH_c.194T>A commonName p.I65N
PAH_c.194T>A alias ATT/AAT
PAH_c.194T>A mutType Missense
PAH_c.194T>A protEffect I65N
PAH_c.163_165delTTT commonName p.F55del
PAH_c.163_165delTTT alias 163_165del3bp
PAH_c.163_165delTTT mutType Deletion
PAH_c.533A>T commonName p.E178V
PAH_c.533A>T alias GAA/GTA
PAH_c.533A>T mutType Missense
PAH_c.533A>T protEffect E178V
PAH_c.1200-1delG commonName IVS11-1delG
PAH_c.1200-1delG alias 1200-1del1bp
PAH_c.1200-1delG mutType Deletion
PAH_c.520A>G commonName p.I174V
PAH_c.520A>G alias ATC/GTC
PAH_c.520A>G mutType Missense
PAH_c.520A>G protEffect I174V
PAH_c.1063C>T commonName p.Q355X
PAH_c.1063C>T alias CAG/TAG
PAH_c.1063C>T mutType Nonsense
PAH_c.1063C>T protEffect Q355X
PAH_c.183C>G commonName p.N61K
PAH_c.183C>G alias AAC/AAG
PAH_c.183C>G mutType Missense
PAH_c.183C>G protEffect N61K
PAH_c.227A>G commonName p.E76G
PAH_c.227A>G alias GAG/GGG
PAH_c.227A>G mutType Missense
PAH_c.227A>G protEffect E76G
PAH_c.694C>T commonName p.Q232X
PAH_c.694C>T alias CAA/TAA
PAH_c.694C>T mutType Missense
PAH_c.694C>T protEffect Q232X
PAH_c.1056delT commonName p.G352>Gfs
PAH_c.1056delT alias 1056del1bp
PAH_c.1056delT mutType Deletion
PAH_c.1217T>C commonName p.I406T
PAH_c.1217T>C alias ATA/ACA
PAH_c.1217T>C mutType Missense
PAH_c.1217T>C protEffect I406T
PAH_c.1199+5G>T commonName IVS11+5G>T
PAH_c.1199+5G>T alias G/T
PAH_c.1199+5G>T mutType Splice
PAH_c.175G>T commonName p.D59Y
PAH_c.175G>T alias GAT/TAT
PAH_c.175G>T mutType Missense
PAH_c.175G>T protEffect D59Y
PAH_c.853C>T commonName p.H285Y
PAH_c.853C>T alias CAT/TAT
PAH_c.853C>T mutType Missense
PAH_c.853C>T protEffect H285Y
PAH_c.281T>G commonName p.I94S
PAH_c.281T>G alias ATC/AGC
PAH_c.281T>G mutType Missense
PAH_c.281T>G protEffect I94S
PAH_c.737C>T commonName p.A246V
PAH_c.737C>T alias GCT/GTT
PAH_c.737C>T mutType Missense
PAH_c.737C>T protEffect A246V
PAH_c.969A>G commonName p.T323T
PAH_c.969A>G alias ACA/ACG
PAH_c.969A>G mutType Sil./Splice
PAH_c.1030G>A commonName p.G344S
PAH_c.1030G>A alias GGT/AGT
PAH_c.1030G>A mutType Missense
PAH_c.1030G>A protEffect G344S
PAH_c.884C>G commonName p.S295X
PAH_c.884C>G alias TCA/TGA
PAH_c.884C>G mutType Nonsense
PAH_c.884C>G protEffect S295X
PAH_c.929_939del11 commonName p.S310_A313>Sfs
PAH_c.929_939del11 alias 929_939del11bp
PAH_c.929_939del11 mutType Deletion
PAH_c.1194A>G commonName p.K398K
PAH_c.1194A>G alias AAA/AAG
PAH_c.1194A>G mutType Sil./Splice
PAH_c.283A>T commonName p.I95F
PAH_c.283A>T alias ATC/TTC
PAH_c.283A>T mutType Missense
PAH_c.283A>T protEffect I95F
PAH_c.202A>G commonName p.R68G
PAH_c.202A>G alias AGA/GGA
PAH_c.202A>G mutType Missense
PAH_c.202A>G protEffect R68G
PAH_c.130_132delGAA commonName p.E44del
PAH_c.130_132delGAA alias 130_132del3bp
PAH_c.130_132delGAA mutType Deletion
PAH_c.673C>G commonName p.P225A
PAH_c.673C>G alias CCC/GCC
PAH_c.673C>G mutType Missense
PAH_c.673C>G protEffect P225A
PAH_c.1066-1G>A commonName IVS10-1G>A
PAH_c.1066-1G>A alias G/A
PAH_c.1066-1G>A mutType Splice
PAH_c.1355_1356insA commonName p.K452>Kfs
PAH_c.1355_1356insA alias 1355_1356ins1bp
PAH_c.1355_1356insA mutType Insertion
PAH_c.981T>G commonName p.F327L
PAH_c.981T>G alias TTT/TTG
PAH_c.981T>G mutType Missense
PAH_c.981T>G protEffect F327L
PAH_c.1024delG commonName p.A342>Hfs
PAH_c.1024delG alias 1024del1bp
PAH_c.1024delG mutType Deletion
PAH_c.193A>G commonName p.I65V
PAH_c.193A>G alias ATT/GTT
PAH_c.193A>G mutType Missense
PAH_c.193A>G protEffect I65V
PAH_c.1054G>C commonName p.G352R
PAH_c.1054G>C alias GGT/CGT
PAH_c.1054G>C mutType Missense
PAH_c.1054G>C protEffect G352R
PAH_c.806T>A commonName p.I269N
PAH_c.806T>A alias ATC/AAC
PAH_c.806T>A mutType Missense
PAH_c.806T>A protEffect I269N
PAH_c.1036G>C commonName p.G346R
PAH_c.1036G>C alias GGG/CGG
PAH_c.1036G>C mutType Missense
PAH_c.1036G>C protEffect G346R
PAH_c.1065+3A>C commonName IVS10+3A>C
PAH_c.1065+3A>C alias A/C
PAH_c.1065+3A>C mutType Splice
PAH_c.498C>A commonName p.Y166X
PAH_c.498C>A alias TAC/TAA
PAH_c.498C>A mutType Nonsense
PAH_c.498C>A protEffect Y166X
PAH_c.716G>T commonName p.G239V
PAH_c.716G>T alias GGT/GTT
PAH_c.716G>T mutType Missense
PAH_c.716G>T protEffect G239V
PAH_c.823C>T commonName p.P275S
PAH_c.823C>T alias CCC/TCC
PAH_c.823C>T mutType Missense
PAH_c.823C>T protEffect P275S
PAH_c.502T>C commonName p.Y168H
PAH_c.502T>C alias TAC/CAC
PAH_c.502T>C mutType Missense
PAH_c.502T>C protEffect Y168H
PAH_c.805A>C commonName p.I269L
PAH_c.805A>C alias ATC/CTC
PAH_c.805A>C mutType Missense
PAH_c.805A>C protEffect I269L
PAH_c.848T>A commonName p.I283N
PAH_c.848T>A alias ATC/AAC
PAH_c.848T>A mutType Missense
PAH_c.848T>A protEffect I283N
PAH_c.733G>A commonName p.V245I
PAH_c.733G>A alias GTG/ATG
PAH_c.733G>A mutType Missense
PAH_c.733G>A protEffect V245I
PAH_c.490A>G commonName p.I164V
PAH_c.490A>G alias ATT/GTT
PAH_c.490A>G mutType Missense
PAH_c.490A>G protEffect I164V
PAH_c.212G>A commonName p.R71H
PAH_c.212G>A alias CGT/CAT
PAH_c.212G>A mutType Missense
PAH_c.212G>A protEffect R71H
PAH_c.1132A>T commonName p.T378S
PAH_c.1132A>T alias ACT/TCT
PAH_c.1132A>T mutType Missense
PAH_c.1132A>T protEffect T378S
PAH_c.344_347delAAGA commonName p.K115_D116>Tfs
PAH_c.344_347delAAGA alias 344_347del4bp
PAH_c.344_347delAAGA mutType Deletion
PAH_c.937G>A commonName p.A313T
PAH_c.937G>A alias CGA/ACA
PAH_c.937G>A mutType Missense
PAH_c.937G>A protEffect A313T
PAH_c.-4173_-407del3767 commonName -4173_-407del
PAH_c.-4173_-407del3767 alias -4173_-407del3767bp
PAH_c.-4173_-407del3767 mutType Deletion
PAH_c.442-?_509+?del commonName p.EX5del
PAH_c.442-?_509+?del alias EX5del?bp
PAH_c.442-?_509+?del mutType Deletion
PAH_c.676C>T commonName p.Q226X
PAH_c.676C>T alias CAG/TAG
PAH_c.676C>T mutType Nonsense
PAH_c.676C>T protEffect Q226X
PAH_c.838G>C commonName p.E280>p.Q280
PAH_c.838G>C alias GAA/CAA
PAH_c.838G>C mutType Missense
PAH_c.838G>C protEffect E280>p.Q280
PAH_c.940C>T commonName p.P314S
PAH_c.940C>T alias CCT/TCT
PAH_c.940C>T mutType Missense
PAH_c.940C>T protEffect P314S
PAH_c.1249T>C commonName p.Y417H
PAH_c.1249T>C alias TAC/CAC
PAH_c.1249T>C mutType Missense
PAH_c.1249T>C protEffect Y417H
PAH_c.824C>T commonName p.P275L
PAH_c.824C>T alias CCC/CTC
PAH_c.824C>T mutType Missense
PAH_c.824C>T protEffect P275L
PAH_c.929C>A commonName p.S310Y
PAH_c.929C>A alias TCT/TAT
PAH_c.929C>A mutType Missense
PAH_c.929C>A protEffect S310Y
PAH_c.181A>G commonName p.N61D
PAH_c.181A>G alias AAC/GAC
PAH_c.181A>G mutType Missense
PAH_c.181A>G protEffect N61D
PAH_c.194T>G commonName p.I65S
PAH_c.194T>G alias ATT/AGT
PAH_c.194T>G mutType Missense
PAH_c.194T>G protEffect I65S
PAH_c.510T>A commonName p.H170Q
PAH_c.510T>A alias CAT/CAA
PAH_c.510T>A mutType Missense
PAH_c.510T>A protEffect H170Q
PAH_c.938C>T commonName p.A313V
PAH_c.938C>T alias GCA/GTA
PAH_c.938C>T mutType Missense
PAH_c.938C>T protEffect A313V
PAH_c.1117G>A commonName p.A373T
PAH_c.1117G>A alias GCC/ACC
PAH_c.1117G>A mutType Missense
PAH_c.1117G>A protEffect A373T
PAH_c.649T>C commonName p.C217R
PAH_c.649T>C alias TGT/CGT
PAH_c.649T>C mutType Missense
PAH_c.649T>C protEffect C217R
PAH_c.1019T>C commonName p.I340T
PAH_c.1019T>C alias ATA/ACA
PAH_c.1019T>C mutType Missense
PAH_c.1019T>C protEffect I340T
PAH_c.620A>G commonName p.N207S
PAH_c.620A>G alias AAT/AGT
PAH_c.620A>G mutType Missense
PAH_c.620A>G protEffect N207S
PAH_c.827T>A commonName p.M276K
PAH_c.827T>A alias ATG/AAG
PAH_c.827T>A mutType Missense
PAH_c.827T>A protEffect M276K
PAH_c.827T>G commonName p.M276R
PAH_c.827T>G alias ATG/AGG
PAH_c.827T>G mutType Missense
PAH_c.827T>G protEffect M276R
PAH_c.839_840insT commonName p.E280>Dfs
PAH_c.839_840insT alias 839_840ins1bp
PAH_c.839_840insT mutType Insertion
PAH_c.1065+32T>A commonName IVS10+32T>A
PAH_c.1065+32T>A alias T/A
PAH_c.1065+32T>A mutType Silent
PAH_c.441+47C>T commonName IVS4+47C>T
PAH_c.441+47C>T alias C/T
PAH_c.441+47C>T mutType Silent
PAH_c.1204T>C commonName p.F402L
PAH_c.1204T>C alias TTT/CTT
PAH_c.1204T>C mutType Missense
PAH_c.1204T>C protEffect F402L
PAH_c.841C>T commonName p.P281S
PAH_c.841C>T alias CCT/TCT
PAH_c.841C>T mutType Missense
PAH_c.841C>T protEffect P281S
PAH_c.508C>G commonName p.H170D
PAH_c.508C>G alias CAT/GAT
PAH_c.508C>G mutType Missense
PAH_c.508C>G protEffect H170D
PAH_c.500A>G commonName p.N167S
PAH_c.500A>G alias AAC/AGC
PAH_c.500A>G mutType Missense
PAH_c.500A>G protEffect N167S
PAH_c.284_286delTCA commonName p.I95_K96delinsK
PAH_c.284_286delTCA alias 284_286del3bp
PAH_c.284_286delTCA mutType Deletion
PAH_c.617A>G commonName p.Y206C
PAH_c.617A>G alias TAC/TGC
PAH_c.617A>G mutType Missense
PAH_c.617A>G protEffect Y206C
PAH_c.704A>C commonName p.Q235P
PAH_c.704A>C alias CAG/CCG
PAH_c.704A>C mutType Missense
PAH_c.704A>C protEffect Q235P
PAH_c.716G>A commonName p.G239D
PAH_c.716G>A alias GGT/GAT
PAH_c.716G>A mutType Missense
PAH_c.716G>A protEffect G239D
PAH_c.722delG commonName p.R241>Pfs
PAH_c.722delG alias 722del1bp
PAH_c.722delG mutType Deletion
PAH_c.739G>A commonName p.G247S
PAH_c.739G>A alias GGC/AGC
PAH_c.739G>A mutType Missense
PAH_c.739G>A protEffect G247S
PAH_c.739G>C commonName p.G247R
PAH_c.739G>C alias GGC/CGC
PAH_c.739G>C mutType Missense
PAH_c.739G>C protEffect G247R
PAH_c.839A>G commonName p.E280G
PAH_c.839A>G alias GAA/GGA
PAH_c.839A>G mutType Missense
PAH_c.839A>G protEffect E280G
PAH_c.1007A>G commonName p.Q336R
PAH_c.1007A>G alias CAA/CGA
PAH_c.1007A>G mutType Missense
PAH_c.1007A>G protEffect Q336R
PAH_c.1184C>A commonName p.A395D
PAH_c.1184C>A alias GCC/GAC
PAH_c.1184C>A mutType Missense
PAH_c.1184C>A protEffect A395D
PAH_c.1199G>C commonName p.R400T
PAH_c.1199G>C alias AGG/ACG
PAH_c.1199G>C mutType Missense
PAH_c.1199G>C protEffect R400T
PAH_c.1199+2T>C commonName IVS11+2T>C
PAH_c.1199+2T>C alias T/C
PAH_c.1199+2T>C mutType Splice
PAH_c.1301C>A commonName p.A434D
PAH_c.1301C>A alias GCT/GAT
PAH_c.1301C>A mutType Missense
PAH_c.1301C>A protEffect A434D
PAH_c.845A>G commonName p.D282G
PAH_c.845A>G alias GAC/GGC
PAH_c.845A>G mutType Missense
PAH_c.845A>G protEffect D282G
PAH_c.856G>A commonName p.E286K
PAH_c.856G>A alias GAG/AAG
PAH_c.856G>A mutType Missense
PAH_c.856G>A protEffect E286K
PAH_c.935G>A commonName p.G312V
PAH_c.935G>A alias GGT/GTT
PAH_c.935G>A mutType Missense
PAH_c.935G>A protEffect G312V
PAH_c.940C>A commonName p.P314T
PAH_c.940C>A alias CCT/ACT
PAH_c.940C>A mutType Missense
PAH_c.940C>A protEffect P314T
PAH_c.241_256del16 commonName p.T81_R86>VfsX6
PAH_c.241_256del16 alias 241_256del16bp
PAH_c.241_256del16 mutType Deletion
PAH_[c.796A>G;c.797C>A] commonName p.T266E
PAH_[c.796A>G;c.797C>A] alias ACA/GAA
PAH_[c.796A>G;c.797C>A] mutType Missense
PAH_c.503delA commonName p.Y168>Sfs
PAH_c.503delA alias 503del1bp
PAH_c.503delA mutType Deletion
PAH_c.510-6T>A commonName IVS5-6T>A
PAH_c.510-6T>A alias T/A
PAH_c.510-6T>A mutType Splice
PAH_c.1166delC commonName p.A389>EfsX13
PAH_c.1166delC alias 1166del1bp
PAH_c.1166delC mutType Deletion
PAH_c.264_265insC commonName p.L88_P89>Pfs
PAH_c.264_265insC alias 264_265ins1bp
PAH_c.264_265insC mutType Insertion
PAH_c.1098_1099insC commonName p.P366_L367>Pfs
PAH_c.1098_1099insC alias 1098_1099ins1bp
PAH_c.1098_1099insC mutType Insertion
PAH_c.619A>G commonName p.N207D
PAH_c.619A>G alias AAT/GAT
PAH_c.619A>G mutType Missense
PAH_c.619A>G protEffect N207D
PAH_c.975C>G commonName p.Y325X
PAH_c.975C>G alias TAC/TAG
PAH_c.975C>G mutType Nonsense
PAH_c.975C>G protEffect Y325X
PAH_c.963C>T commonName p.L321L
PAH_c.963C>T alias CTC/CTT
PAH_c.963C>T mutType Silent
PAH_c.1220C>T commonName p.P407L
PAH_c.1220C>T alias CCT/CTT
PAH_c.1220C>T mutType Missense
PAH_c.1220C>T protEffect P407L
PAH_c.1100T>C commonName p.L367P
PAH_c.1100T>C alias CTG/CCG
PAH_c.1100T>C mutType Missense
PAH_c.1100T>C protEffect L367P
PAH_c.2T>G commonName p.M1R
PAH_c.2T>G alias ATG/AGG
PAH_c.2T>G mutType Missense
PAH_c.2T>G protEffect M1R
PAH_c.59A>T commonName p.Q20L
PAH_c.59A>T alias CAG/CTG
PAH_c.59A>T mutType Missense
PAH_c.59A>T protEffect Q20L
PAH_c.122T>C commonName p.L41P
PAH_c.122T>C alias CTC/CCC
PAH_c.122T>C mutType Missense
PAH_c.122T>C protEffect L41P
PAH_c.464G>C commonName p.R155P
PAH_c.464G>C alias CGT/CCT
PAH_c.464G>C mutType Missense
PAH_c.464G>C protEffect R155P
PAH_c.547G>C commonName p.E183Q
PAH_c.547G>C alias GAA/CAA
PAH_c.547G>C mutType Missense
PAH_c.547G>C protEffect E183Q
PAH_c.692C>T commonName p.S231F
PAH_c.692C>T alias TCT/TTT
PAH_c.692C>T mutType Missense
PAH_c.692C>T protEffect S231F
PAH_c.974A>G commonName p.Y325C
PAH_c.974A>G alias TAC/TGC
PAH_c.974A>G mutType Missense
PAH_c.974A>G protEffect Y325C
PAH_c.990G>C commonName p.E330D
PAH_c.990G>C alias GAG/GAC
PAH_c.990G>C mutType Missense
PAH_c.990G>C protEffect E330D
PAH_c.1030G>C commonName p.G344R
PAH_c.1030G>C alias GGT/CGT
PAH_c.1030G>C mutType Missense
PAH_c.1030G>C protEffect G344R
PAH_c.1031G>T commonName p.G344V
PAH_c.1031G>T alias GGT/GTT
PAH_c.1031G>T mutType Missense
PAH_c.1031G>T protEffect G344V
PAH_c.1229T>C commonName p.F410S
PAH_c.1229T>C alias TTC/TCC
PAH_c.1229T>C mutType Missense
PAH_c.1229T>C protEffect F410S
PAH_c.969+1G>A commonName IVS9+1G>A
PAH_c.969+1G>A alias G/A
PAH_c.969+1G>A mutType Splice
PAH_c.169_171delGAG commonName p.E57del
PAH_c.169_171delGAG alias 169_171del3bp
PAH_c.169_171delGAG mutType Deletion
PAH_c.441+4A>G commonName IVS4+4A>G
PAH_c.441+4A>G alias A/G
PAH_c.441+4A>G mutType Splice
PAH_c.580_581delCT commonName p.L194>Efs
PAH_c.580_581delCT alias 580_581del2bp
PAH_c.580_581delCT mutType Deletion
PAH_c.728G>T commonName p.R243L
PAH_c.728G>T alias CGA/CTA
PAH_c.728G>T mutType Missense
PAH_c.728G>T protEffect R243L
PAH_c.737delC commonName p.R246>Vfs
PAH_c.737delC alias 737del1bp
PAH_c.737delC mutType Deletion
PAH_c.943G>T commonName p.D315Y
PAH_c.943G>T alias GAT/TAT
PAH_c.943G>T mutType Missense
PAH_c.943G>T protEffect D315Y
PAH_c.995G>A commonName p.G332E
PAH_c.995G>A alias GGG/GAG
PAH_c.995G>A mutType Missense
PAH_c.995G>A protEffect G332E
PAH_c.1087_1088delAA commonName p.K363>Afs
PAH_c.1087_1088delAA alias 1087_1088del2bp
PAH_c.1087_1088delAA mutType Deletion
PAH_c.1278T>C commonName p.N426N
PAH_c.1278T>C alias AAT/AAC
PAH_c.1278T>C mutType Silent
PAH_c.838_842+3del8 commonName p.E280_IVS7+3>fs
PAH_c.838_842+3del8 alias 838_832+3del8bp
PAH_c.838_842+3del8 mutType Deletion
PAH_c.1357del5 commonName p.X453_453+2del
PAH_c.1357del5 alias 1357del5bp
PAH_c.1357del5 mutType Deletion
PAH_c.1054G>T commonName p.G352C
PAH_c.1054G>T alias GGT/TGT
PAH_c.1054G>T mutType Missense
PAH_c.1054G>T protEffect G352C
PAH_c.529G>A commonName p.V177M
PAH_c.529G>A alias GTG/ATG
PAH_c.529G>A mutType Missense
PAH_c.529G>A protEffect V177M
PAH_c.305T>C commonName p.I102T
PAH_c.305T>C alias ATT/ACT
PAH_c.305T>C mutType Missense
PAH_c.305T>C protEffect I102T
PAH_c.1271T>C commonName p.L424S
PAH_c.1271T>C alias TTG/TCG
PAH_c.1271T>C mutType Missense
PAH_c.1271T>C protEffect L424S
PAH_c.706+17G>T commonName IVS6+17G>T
PAH_c.706+17G>T alias G/T
PAH_c.706+17G>T mutType Silent
PAH_c.614A>C commonName p.E205A
PAH_c.614A>C alias GAG/GCG
PAH_c.614A>C mutType Missense
PAH_c.614A>C protEffect E205A
PAH_c.719T>C commonName p.F240S
PAH_c.719T>C alias TTC/TCC
PAH_c.719T>C mutType Missense
PAH_c.719T>C protEffect F240S
PAH_c.820A>G commonName p.K274E
PAH_c.820A>G alias AAG/GAG
PAH_c.820A>G mutType Missense
PAH_c.820A>G protEffect K274E
PAH_c.953T>C commonName p.I318T
PAH_c.953T>C alias ATT/ACT
PAH_c.953T>C mutType Missense
PAH_c.953T>C protEffect I318T
PAH_c.1232C>A commonName p.S411X
PAH_c.1232C>A alias TCA/TAA
PAH_c.1232C>A mutType Nonsense
PAH_c.1232C>A protEffect S411X
PAH_c.1069T>G commonName p.C357G
PAH_c.1069T>G alias TGC/GGC
PAH_c.1069T>G mutType Missense
PAH_c.1069T>G protEffect C357G
PAH_c.1199+17G>A commonName IVS11+17G>A
PAH_c.1199+17G>A alias G/A
PAH_c.1199+17G>A mutType Silent
PAH_c.678G>C commonName p.Q226H
PAH_c.678G>C alias CAG/CAC
PAH_c.678G>C mutType Missense
PAH_c.678G>C protEffect Q226H
PAH_c.650G>A commonName p.C217Y
PAH_c.650G>A alias TGT/TAT
PAH_c.650G>A mutType Missense
PAH_c.650G>A protEffect C217Y
PAH_c.922C>T commonName p.L308F
PAH_c.922C>T alias CTT/TTT
PAH_c.922C>T mutType Missense
PAH_c.922C>T protEffect L308F
PAH_c.1099delC commonName p.L367>Wfs
PAH_c.1099delC alias 1099del1bp
PAH_c.1099delC mutType Deletion
PAH_c.535T>C commonName p.Y179H
PAH_c.535T>C alias TAC/CAC
PAH_c.535T>C mutType Missense
PAH_c.535T>C protEffect Y179H
PAH_c.707-7A>T commonName IVS6-7A>T
PAH_c.707-7A>T alias A/T
PAH_c.707-7A>T mutType Splice
PAH_c.1249T>A commonName p.Y417N
PAH_c.1249T>A alias TAC/AAC
PAH_c.1249T>A mutType Missense
PAH_c.1249T>A protEffect Y417N
PAH_c.473G>C commonName p.R158P
PAH_c.473G>C alias CGG/CCG
PAH_c.473G>C mutType Missense
PAH_c.473G>C protEffect R158P
PAH_c.1049C>A commonName p.S350Y
PAH_c.1049C>A alias TCC/TAC
PAH_c.1049C>A mutType Missense
PAH_c.1049C>A protEffect S350Y
PAH_c.176A>G commonName p.D59V
PAH_c.176A>G alias GAT/GTT
PAH_c.176A>G mutType Missense
PAH_c.176A>G protEffect D59V
PAH_c.689T>G commonName p.V230G
PAH_c.689T>G alias GTT/GGT
PAH_c.689T>G mutType Missense
PAH_c.689T>G protEffect V230G
PAH_c.740G>A commonName p.G247D
PAH_c.740G>A alias GGC/GAC
PAH_c.740G>A mutType Missense
PAH_c.740G>A protEffect G247D
PAH_c.1046C>A commonName p.S349X
PAH_c.1046C>A alias TCA/TAA
PAH_c.1046C>A mutType Nonsense
PAH_c.1046C>A protEffect S349X
PAH_c.1_1359del commonName p.PAHdel
PAH_c.1_1359del alias PAH deletion
PAH_c.1_1359del mutType Deletion
PAH_c.510-54G>A commonName IVS5-54G>A
PAH_c.510-54G>A alias G/A
PAH_c.510-54G>A mutType Silent
PAH_c.1316-15T>C commonName IVS12-15T>C
PAH_c.1316-15T>C alias T/C
PAH_c.1316-15T>C mutType Silent
PAH_c.869A>G commonName p.H290R
PAH_c.869A>G alias CAT/CGT
PAH_c.869A>G mutType Missense
PAH_c.869A>G protEffect H290R
PAH_c.969+5G>A commonName IVS9+5G>A
PAH_c.969+5G>A alias G/A
PAH_c.969+5G>A mutType Splice
PAH_c.1065+7C>A commonName IVS10+7C>A
PAH_c.1065+7C>A alias C/A
PAH_c.1065+7C>A mutType Splice
PAH_c.111_112insG commonName p.I38fsX19
PAH_c.111_112insG alias 111_112ins1bp
PAH_c.111_112insG mutType Insertion
PAH_c.441+3G>C commonName p.IVS4+3G>C
PAH_c.441+3G>C alias G/C
PAH_c.441+3G>C mutType Splice
PAH_c.460T>C commonName p.Y154H
PAH_c.460T>C alias TAC/CAC
PAH_c.460T>C mutType Missense
PAH_c.460T>C protEffect Y154H
PAH_c.470G>A commonName p.R157K
PAH_c.470G>A alias AGA/AAA
PAH_c.470G>A mutType Missense
PAH_c.470G>A protEffect R157K
PAH_c.470G>T commonName p.R157I
PAH_c.470G>T alias AGA/ATA
PAH_c.470G>T mutType Missense
PAH_c.470G>T protEffect R157I
PAH_c.598_599insA commonName p.T200fsX6
PAH_c.598_599insA alias 598_599ins1bp
PAH_c.598_599insA mutType Insertion
PAH_c.801G>C commonName p.Q267H
PAH_c.801G>C alias CAG/CAC
PAH_c.801G>C mutType Missense
PAH_c.801G>C protEffect Q267H
PAH_c.799C>G commonName p.Q267E
PAH_c.799C>G alias CAG/GAG
PAH_c.799C>G mutType Missense
PAH_c.799C>G protEffect Q267E
PAH_c.904delT commonName p.F302fsX39
PAH_c.904delT alias 904del1bp
PAH_c.904delT mutType Deletion
PAH_c.1036G>A commonName p.G346R
PAH_c.1036G>A alias GGG/AGG
PAH_c.1036G>A mutType Missense
PAH_c.1036G>A protEffect G346R
PAH_c.1045T>G commonName p.S349A
PAH_c.1045T>G alias TCA/GCA
PAH_c.1045T>G mutType Missense
PAH_c.1045T>G protEffect S349A
PAH_c.1101G>A commonName p.L367L
PAH_c.1101G>A alias CTG/CTA
PAH_c.1101G>A mutType Silent
PAH_c.1199G>A commonName p.R400K
PAH_c.1199G>A alias AGG/AAG
PAH_c.1199G>A mutType Missense
PAH_c.1199G>A protEffect R400K
PAH_c.1315+4A>G commonName p.IVS12+4A>G
PAH_c.1315+4A>G alias A/G
PAH_c.1315+4A>G mutType Splice
PAH_c.1315+6T>A commonName p.IVS12+6T>A
PAH_c.1315+6T>A alias T/A
PAH_c.1315+6T>A mutType Splice
PAH_c.161T>C commonName p.L54S
PAH_c.161T>C alias TTA/TCA
PAH_c.161T>C mutType Missense
PAH_c.161T>C protEffect L54S
PAH_c.1027T>G commonName p.Y343D
PAH_c.1027T>G alias TAT/GAT
PAH_c.1027T>G mutType Missense
PAH_c.1027T>G protEffect Y343D
PAH_c.205C>T commonName p.P69S
PAH_c.205C>T alias CCT/TCT
PAH_c.205C>T mutType Missense
PAH_c.205C>T protEffect P69S
PAH_c.1089G>T commonName p.K363N
PAH_c.1089G>T alias AAG/AAT
PAH_c.1089G>T mutType Missense
PAH_c.1089G>T protEffect K363N
PAH_c.613G>A commonName p.E205K
PAH_c.613G>A alias GAG/AAG
PAH_c.613G>A mutType Missense
PAH_c.613G>A protEffect E205K
PAH_c.464G>A commonName p.R155H
PAH_c.464G>A alias CGT>CAT
PAH_c.464G>A mutType Missense
PAH_c.464G>A protEffect R155H
PAH_c.841delCCG commonName p.P281fs
PAH_c.841delCCG alias 841delCCG
PAH_c.841delCCG mutType Splice
PAH_c.527G>A commonName p.R176Q
PAH_c.527G>A alias CGA/CAA
PAH_c.527G>A mutType Missense
PAH_c.527G>A protEffect R176Q
PAH_c.506G>A commonName p.R169H
PAH_c.506G>A alias CGC/CAC
PAH_c.506G>A mutType Missense
PAH_c.506G>A protEffect R169H
PAH_c.824C>G commonName p.P275R
PAH_c.824C>G alias CCC/CGC
PAH_c.824C>G mutType Missense
PAH_c.824C>G protEffect P275R
PAH_c.1229T>G commonName p.F410C
PAH_c.1229T>G alias TTC/TGC
PAH_c.1229T>G mutType Missense
PAH_c.1229T>G protEffect F410C
PAH_c.1127delA commonName N376IfsX24
PAH_c.1127delA alias AAT/ATT
PAH_c.1127delA mutType Deletion
PAH_c.169_352del184 commonName EX3del4765
PAH_c.169_352del184 alias -
PAH_c.169_352del184 mutType Deletion
PAH_c.442_509del68 commonName EX5del955
PAH_c.442_509del68 alias -
PAH_c.442_509del68 mutType Deletion
PAH_c.442_509del commonName EX5del4232ins268
PAH_c.442_509del alias -
PAH_c.442_509del mutType Deletion
PAH_c.969+43G>T commonName IVS9+43G>T
PAH_c.969+43G>T alias G/T
PAH_c.969+43G>T mutType Splice
PAH_c.1065+39G>T commonName IVS10+39G>T
PAH_c.1065+39G>T alias G/T
PAH_c.1065+39G>T mutType Splice
PAH_c.1065+97G>A commonName IVS10+97G>A
PAH_c.1065+97G>A alias G/A
PAH_c.1065+97G>A mutType Splice
PAH_c.664-665delGA commonName p.D222>STOP
PAH_c.664-665delGA alias 664_665del2bp
PAH_c.664-665delGA mutType Deletion
PAH_c.1A>T commonName M1L
PAH_c.1A>T alias ATG>TTG
PAH_c.1A>T mutType Missense
PAH_c.1A>T protEffect M1L
PAH_c.386A>T commonName D129V
PAH_c.386A>T alias GAC>GTC
PAH_c.386A>T mutType Missense
PAH_c.386A>T protEffect D129V
PAH_c.400C>T commonName Q134X
PAH_c.400C>T alias CAG/TAG
PAH_c.400C>T mutType Nonsense
PAH_c.400C>T protEffect Q134X
PAH_c.368G>T commonName R123I
PAH_c.368G>T alias AGA>ATA
PAH_c.368G>T mutType Missense
PAH_c.368G>T protEffect R123I
PAH_c.850T>C commonName C284R
PAH_c.850T>C alias TGC/CGC
PAH_c.850T>C mutType Missense
PAH_c.850T>C protEffect C284R
PAH_c.60+40T>G commonName IVS1nt+40T>G
PAH_c.60+40T>G alias T/G
PAH_c.60+40T>G mutType Unknown
PAH_c.352+1G>A commonName IVS3nt+1G>A
PAH_c.352+1G>A alias G/A
PAH_c.352+1G>A mutType Splice
PAH_c.1066-31G>A commonName IVS10nt-31G>A
PAH_c.1066-31G>A alias G/A
PAH_c.1066-31G>A mutType Unknown
PAH_c.466G>C commonName A156P
PAH_c.466G>C alias GCA/CCA
PAH_c.466G>C mutType Missense
PAH_c.466G>C protEffect A156P
PAH_c.1031G>A commonName G344D
PAH_c.1031G>A alias GGT/GAT
PAH_c.1031G>A mutType Missense
PAH_c.1031G>A protEffect G344D
PAH_c.206_208delCTT commonName P69_S70delinsP(delCTT)
PAH_c.206_208delCTT alias CTTdel
PAH_c.206_208delCTT mutType Deletion
PAH_c.60G>C commonName Q20H
PAH_c.60G>C alias CAG>CAC
PAH_c.535T>A commonName Y179N
PAH_c.535T>A alias TAC>AAC
PAH_c.563G>A commonName G188D
PAH_c.563G>A alias GGC>GAC
PAH_c.609C>G commonName C203W
PAH_c.609C>G alias TGC>TGG
PAH_c.808A>G commonName R270G
PAH_c.808A>G alias AGA>GGA
PAH_c.842+1G>T commonName IVS7+1G>T
PAH_c.842+1G>T alias
PAH_c.1156T>G commonName Y386D
PAH_c.1156T>G alias TAT>GAT
PAH_c.812A>G commonName H271R
PAH_c.812A>G alias CAT/CGT
PAH_c.812A>G mutType Missense
PAH_c.812A>G protEffect H271R
PAH_c.865G>C commonName p.G289R
PAH_c.865G>C alias GGA/CGA
PAH_c.865G>C mutType Missense
PAH_c.865G>C protEffect G289R
PAH_c.440C>T commonName p.P147L
PAH_c.440C>T alias CCT/CTT
PAH_c.440C>T mutType Missense
PAH_c.440C>T protEffect P147L
PAH_c.1175T>C commonName p.F392S
PAH_c.1175T>C alias TTT/TCT
PAH_c.1175T>C mutType Missense
PAH_c.1175T>C protEffect F392S
PAH_c.1262T>C commonName p.I421T
PAH_c.1262T>C alias ATT/ACT
PAH_c.1262T>C mutType Missense
PAH_c.1262T>C protEffect I421T
PAH_c.190delc commonName H64>Tfs
PAH_c.190delc alias 190del1bp
PAH_c.190delc mutType Deletion
PAH_c.592_613del22 commonName p.Y198_E205>Vfs
PAH_c.592_613del22 alias 592_613del22bp
PAH_c.592_613del22 mutType Deletion
PAH_c.441+6T>C commonName IVS4+6T>C
PAH_c.441+6T>C alias AGT/AGC
PAH_c.441+6T>C mutType Unknown
PAH_c.591_612del22pb commonName p.L197_Y204>XfsXl
PAH_c.591_612del22pb alias G/T
PAH_c.591_612del22pb mutType Deletion
PEX1_00035 commonName -137T>C
PEX1_00036 commonName -53C>G
PEX1_00027 commonName 434_448delinsGCAA
PEX1_00027 protEffect -
PEX1_00043 commonName 781C>T
PEX1_00043 protEffect -
PEX1_00025 commonName 788_789delCA
PEX1_00025 protEffect -
PEX1_00011 commonName 904delG
PEX1_00011 protEffect -
PEX1_00039 commonName 1108_1109insA
PEX1_00039 protEffect -
PEX1_00046 commonName 1991T>C
PEX1_00046 protEffect -
PEX1_00072 commonName 1239G>A
PEX1_00072 protEffect -
PEX1_00026 commonName 1670+5G>T
PEX1_00029 commonName 1777G>A
PEX1_00029 protEffect -
PEX1_00075 commonName 1842delA
PEX1_00075 protEffect -
PEX1_00017 commonName 1865_1866insCAGTGTGGA
PEX1_00044 commonName 1897C>T
PEX1_00044 protEffect -
PEX1_00023 commonName 1952_1960insCAGTGTGGA
PEX1_00023 protEffect -
PEX1_00028 commonName 2008C>A
PEX1_00028 protEffect -
PEX1_00049 commonName 2034_2035delCA
PEX1_00049 protEffect -
PEX1_00030 commonName 2071+1G>T
PEX1_00037 commonName 2088A>G
PEX1_00037 protEffect -
PEX1_00040 commonName 2391_2392delTC
PEX1_00040 protEffect -
PEX1_00005 commonName 126+1G>T
PEX1_00005 protEffect -
PEX1_00004 commonName 188+1G>C
PEX1_00004 protEffect -
PEX1_00006 commonName 600+1G>A
PEX1_00006 protEffect -
PEX1_00001 commonName 681-2A>C
PEX1_00001 protEffect -
PEX1_00003 commonName 952+2T>C
PEX1_00003 protEffect -
PEX1_00008 commonName 1688+1G>A
PEX1_00008 protEffect -
PEX1_00019 commonName 2085_2089delGATAA
PEX1_00019 protEffect -
PEX1_00002 commonName 2097_2098insT
PEX1_00002 protEffect -
PEX1_00022 commonName 2227_2416del
PEX1_00022 protEffect -
PEX1_00038 commonName 2331C>A
PEX1_00038 protEffect -
PEX1_00012 commonName 2368C>T
PEX1_00012 protEffect -
PEX1_00031 commonName 2383C>T
PEX1_00031 protEffect -
PEX1_00013 commonName 2392C>G
PEX1_00013 protEffect -
PEX1_00009 commonName 2528G>A
PEX1_00009 protEffect -
PEX1_00016 commonName 2537_2545delATGAAGTTAinsTCATGGT
PEX1_00016 protEffect -
PEX1_00021 commonName 2614C>T
PEX1_00021 protEffect -
PEX1_00010 commonName 2730delA
PEX1_00010 protEffect -
PEX1_00020 commonName 2814_2818delCTTTG
PEX1_00020 protEffect -
PEX1_00034 commonName 2846G>A
PEX1_00034 protEffect -
PEX1_00007 commonName 2916delA
PEX1_00007 protEffect -
PEX1_00018 commonName 2926+1G>A
PEX1_00014 commonName 2926+2T>C
PEX1_00041 commonName 2966T>C
PEX1_00041 protEffect -
PEX1_00015 commonName 2992C>T
PEX1_00015 protEffect -
PEX1_00042 commonName 2993G>A
PEX1_00042 protEffect -
PEX1_00048 commonName 3022_3024delCCT
PEX1_00048 protEffect -
PEX1_00033 commonName 3180_3181insT
PEX1_00033 protEffect -
PEX1_00074 commonName 3207+1G>C
PEX1_00045 commonName 3378C>A/G
PEX1_00045 protEffect -
PEX1_00024 commonName 3850T>C
PEX1_00024 protEffect -
PEX10_00001 commonName 4delG
PEX10_00001 protEffect -
PEX10_00010 commonName 13_28del, ins20bp
PEX10_00010 protEffect -
PEX10_00018 commonName 52G>A
PEX10_00018 protEffect -
PEX10_00011 commonName 279C>T
PEX10_00011 protEffect -
PEX10_00013 commonName 332T>C
PEX10_00013 protEffect -
PEX10_00006 commonName 373C>T
PEX10_00006 protEffect -
PEX10_00008 commonName 600+1G>A
PEX10_00003 commonName 704_705insA *
PEX10_00003 protEffect -
PEX10_00005 commonName 730C>T *
PEX10_00005 protEffect -
PEX10_00009 commonName 814_815delCT
PEX10_00009 protEffect -
PEX10_00014 commonName 820A>G
PEX10_00014 protEffect -
PEX10_00019 commonName 835G>T
PEX10_00019 protEffect -
PEX10_00015 commonName 843G>A
PEX10_00015 protEffect -
PEX10_00004 commonName 868C>G
PEX10_00004 protEffect -
PEX10_00007 commonName 870C>G
PEX10_00007 protEffect -
PEX10_00017 commonName 881G>A
PEX10_00017 protEffect -
PEX10_00016 commonName 981+11G>A
PEX12_00012 commonName 26_27delCA
PEX12_00010 commonName 126+1G>T
PEX12_00013 commonName 202_204delCTT
PEX12_00013 protEffect -
PEX12_00002 commonName 260_261insAA
PEX12_00002 protEffect -
PEX12_00014 commonName 268_271delAAGA
PEX12_00014 protEffect -
PEX12_00017 commonName 273A>T
PEX12_00017 protEffect -
PEX12_00018 commonName 308_309insT
PEX12_00018 protEffect -
PEX12_00011 commonName 538C>T
PEX12_00011 protEffect -
PEX12_00004 commonName 541_542insT
PEX12_00004 protEffect -
PEX12_00019 commonName 604C>T
PEX12_00019 protEffect -
PEX12_00020 commonName 625C>T
PEX12_00020 protEffect -
PEX12_00001 commonName 681-2A>C
PEX12_00015 commonName 684_687delTAGT
PEX12_00015 protEffect -
PEX12_00005 commonName 733_734insGCCT
PEX12_00005 protEffect -
PEX12_00016 commonName 744_745insT
PEX12_00016 protEffect -
PEX12_00021 commonName 875_876delCT
PEX12_00021 protEffect -
PEX12_00006 commonName 887delT
PEX12_00006 protEffect -
PEX12_00008 commonName 887_888delTC
PEX12_00008 protEffect -
PEX12_00022 commonName 949C>T
PEX12_00022 protEffect -
PEX12_00009 commonName 959C>T
PEX12_00009 protEffect -
PEX12_00007 commonName 1047_1049delACA
PEX12_00007 protEffect -
PEX13_00003 commonName 937T>G
PEX13_00003 protEffect -
PEX13_00002 commonName 970G>T
PEX13_00002 protEffect -
PEX13_00001 commonName 977T>C
PEX13_00001 protEffect -
PEX14_00001 commonName 553C>T
PEX14_00001 protEffect -
PEX16_00001 commonName 526C>T
PEX16_00001 protEffect -
PEX16_00002 commonName 952+2T>C
PEX16_00002 protEffect -
PEX19_00001 commonName 763_764insA
PEX19_00001 protEffect -
PEX2_00010 commonName -58G>T
PEX2_00011 commonName 24G>A
PEX2_00011 protEffect -
PEX2_00014 commonName 115C>T
PEX2_00014 protEffect -
PEX2_00004 commonName 163 G>A
PEX2_00004 protEffect -
PEX2_00012 commonName 209A>G
PEX2_00012 protEffect -
PEX2_00001 commonName 273delT
PEX2_00001 protEffect -
PEX2_00007 commonName 279_283delGAGAT
PEX2_00007 protEffect -
PEX2_00002 commonName 355C>T
PEX2_00002 protEffect -
PEX2_00003 commonName 373C>T
PEX2_00003 protEffect -
PEX2_00013 commonName 477G>A
PEX2_00013 protEffect -
PEX2_00006 commonName 550delC
PEX2_00006 protEffect -
PEX2_00005 commonName 642delG
PEX2_00005 protEffect -
PEX2_00008 commonName 669G>A
PEX2_00008 protEffect -
PEX2_00009 commonName 739T>C
PEX2_00009 protEffect -
PEX2_00015 commonName 834_838delTACTT
PEX2_00015 protEffect -
PEX26_00008 commonName 2T>C
PEX26_00008 protEffect -
PEX26_00010 commonName 34_35insC
PEX26_00010 protEffect -
PEX26_00001 commonName 37_38delAG
PEX26_00001 protEffect -
PEX26_00016 commonName 131T>C
PEX26_00016 protEffect -
PEX26_00009 commonName 134T>C
PEX26_00009 protEffect -
PEX26_00003 commonName 192_216del
PEX26_00003 protEffect -
PEX26_00013 commonName 230+1G>T
PEX26_00013 protEffect -
PEX26_00012 commonName 254_255insT
PEX26_00012 protEffect -
PEX26_00011 commonName 265G>A
PEX26_00011 protEffect -
PEX26_00005 commonName 292C>T
PEX26_00005 protEffect -
PEX26_00007 commonName 296G>A
PEX26_00007 protEffect -
PEX26_00015 commonName 350C>T
PEX26_00015 protEffect -
PEX26_00004 commonName 353C>G
PEX26_00004 protEffect -
PEX26_00018 commonName 457C>G
PEX26_00018 protEffect -
PEX26_00019 commonName 497G>A
PEX26_00019 protEffect -
PEX26_00006 commonName 574C>T
PEX26_00006 protEffect -
PEX26_00002 commonName 667+2T>C
PEX26_00014 commonName 862delC
PEX26_00014 protEffect -
PEX3_00001 commonName 543_544insT
PEX3_00001 protEffect -
PEX3_00002 commonName 942-8T>G
PEX3_00002 protEffect -
PEX5_00009 commonName 826C>T
PEX5_00009 protEffect -
PEX5_00007 commonName 1184+5G>A
PEX5_00007 protEffect -
PEX5_00003 commonName 1255C>T
PEX5_00003 protEffect -
PEX5_00002 commonName 1554T>G
PEX5_00002 protEffect -
PEX5_00013 commonName 1561-2A>C
PEX5_00001 commonName 1578T>G
PEX5_00001 protEffect -
PEX6_00043 commonName -304A>G
PEX6_00042 commonName -55C>T
PEX6_00004 commonName 10_69del
PEX6_00004.1 commonName 126_217del
PEX6_00054 commonName 35T>C
PEX6_00054 protEffect -
PEX6_00061 commonName 114_119delTGGCCCT
PEX6_00061 protEffect -
PEX6_00020 commonName 170T>C
PEX6_00020 protEffect -
PEX6_00062 commonName 224dupT
PEX6_00062 protEffect -
PEX6_00035 commonName 235G>C
PEX6_00035 protEffect -
PEX6_00021 commonName 275_280delTGCGGG
PEX6_00021 protEffect -
PEX6_00063 commonName 277C>G
PEX6_00063 protEffect -
PEX6_00052 commonName 281C>A
PEX6_00052 protEffect -
PEX6_00017 commonName 282_287del
PEX6_00017 protEffect -
PEX6_00051 commonName 311delG
PEX6_00051 protEffect -
PEX6_00036 commonName 399T>G
PEX6_00036 protEffect -
PEX6_00023 commonName 402delC
PEX6_00023 protEffect -
PEX6_00007 commonName 510_511insT
PEX6_00007 protEffect -
PEX6_00008 commonName 517delA
PEX6_00008 protEffect -
PEX6_00022 commonName 530delC
PEX6_00022 protEffect -
PEX6_00064 commonName 557C>A
PEX6_00064 protEffect -
PEX6_00068 commonName 656A>C
PEX6_00068 protEffect -
PEX6_00065 commonName 656delA
PEX6_00065 protEffect -
PEX6_00066 commonName 659G>T
PEX6_00066 protEffect -
PEX6_00046 commonName 685_686insAG
PEX6_00046 protEffect -
PEX6_00028 commonName 727C>T
PEX6_00028 protEffect -
PEX6_00002 commonName 802_815del
PEX6_00002 protEffect -
PEX6_00038 commonName 813G>T
PEX6_00038 protEffect -
PEX6_00024 commonName 814_817dupCTTG
PEX6_00024 protEffect -
PEX6_00055 commonName 821C>T
PEX6_00055 protEffect -
PEX6_00010 commonName 853C>G
PEX6_00010 protEffect -
PEX6_00071 commonName 856delC
PEX6_00071 protEffect -
PEX6_00067 commonName 867delA
PEX6_00067 protEffect -
PEX6_00056 commonName 882+1G>A
PEX6_00044 commonName 883-3T>C
PEX6_00029 commonName 883-2A>G
PEX6_00029 protEffect -
PEX6_00072 commonName 883_1130del
PEX6_00058 commonName 914delA
PEX6_00058 protEffect -
PEX6_00074 commonName 1047-2 A>G
PEX6_00074 protEffect -
PEX6_00073 commonName 1047-1G>A
PEX6_00073 protEffect -
PEX6_00075 commonName 1054C>T
PEX6_00075 protEffect -
PEX6_00076 commonName 1130+1G>A
PEX6_00076 protEffect -
PEX6_00077 commonName 1131-1G>C
PEX6_00077 protEffect -
PEX6_00047 commonName 1176T>A
PEX6_00047 protEffect -
PEX6_00078 commonName 1198T>A
PEX6_00078 protEffect -
PEX6_00030 commonName 1301delC
PEX6_00030 protEffect -
PEX6_00079 commonName 1314_1321delGGAGGCCT
PEX6_00080 commonName 1367+1delG
PEX6_00011 commonName 1314_1320del
PEX6_00011 protEffect -
PEX6_00081 commonName 1404delA
PEX6_00081 protEffect -
PEX6_00082 commonName 1415dupC
PEX6_00082 protEffect -
PEX6_00014 commonName 499_500delTG
PEX6_00014 protEffect -
PEX6_00083 commonName 1495delC
PEX6_00083 protEffect -
PEX6_00084 commonName 1532T>G
PEX6_00084 protEffect -
PEX6_00085 commonName 1553C>A
PEX6_00085 protEffect -
PEX6_00059 commonName 1646C>T
PEX6_00059 protEffect -
PEX6_00025 commonName 1688+1G>A
PEX6_00025 protEffect -
PEX6_00086 commonName 1689-1G>T
PEX6_00086 protEffect -
PEX6_00087 commonName 1711G>A
PEX6_00087 protEffect -
PEX6_00031 commonName 1715C>T
PEX6_00031 protEffect -
PEX6_00088 commonName 1793_1794delAG
PEX6_00088 protEffect -
PEX6_00018 commonName 1801C>T
PEX6_00018 protEffect -
PEX6_00006 commonName 1802G>A
PEX6_00006 protEffect -
PEX6_00089 commonName 1814T>G
PEX6_00089 protEffect -
PEX6_00090 commonName 1947delG
PEX6_00090 protEffect -
PEX6_00091 commonName 1958C>G
PEX6_00091 protEffect -
PEX6_00045 commonName 1961+20G>A
PEX6_00034 commonName 1962-1G>A
PEX6_00092 commonName 1992G>C
PEX6_00092 protEffect -
PEX6_00093 commonName 2048T>C
PEX6_00093 protEffect -
PEX6_00032 commonName 2094+2T>C
PEX6_00013 commonName 2095-10_2095-21delCCTTTCACGCAC
PEX6_00013 protEffect -
PEX6_00094 commonName 2120T>G
PEX6_00094 protEffect -
PEX6_00033 commonName 2534T>C
PEX6_00033 protEffect -
PEX6_00095 commonName 2095-2A>G
PEX6_00095 protEffect -
PEX6_00096 commonName 2207-2217delGACGCTCAGGC
PEX6_00096 protEffect -
PEX6_00097 commonName 2225T>C
PEX6_00097 protEffect -
PEX6_00099 commonName 2301-15C>G
PEX6_00099 protEffect -
PEX6_00100 commonName 2300+28G>A
PEX6_00100 protEffect -
PEX6_00098 commonName 2301-5C>G
PEX6_00102 commonName 2356C>T
PEX6_00102 protEffect -
PEX6_00001 commonName 2362G>A
PEX6_00001 protEffect -
PEX6_00037 commonName 2364G>A
PEX6_00037 protEffect -
PEX6_00016 commonName 2398_2417delinsT
PEX6_00039 commonName 2426C>T
PEX6_00039 protEffect -
PEX6_00005 commonName 2434C>T
PEX6_00005 protEffect -
PEX6_00027 commonName 2435G>A
PEX6_00027 protEffect -
PEX6_00103 commonName 2440C>T
PEX6_00103 protEffect -
PEX6_00057 commonName 2472-2A>G
PEX6_00104 commonName 2482C>T
PEX6_00104 protEffect -
PEX6_00060 commonName 2546A>C
PEX6_00060 protEffect -
PEX6_00009 commonName 2578C>T
PEX6_00009 protEffect -
PEX6_00015 commonName 2579G>A
PEX6_00015 protEffect -
PEX6_00105 commonName 2591T>C
PEX6_00105 protEffect -
PEX6_00106 commonName 2602_2603ins350
PEX6_00106 protEffect -
PEX6_00107 commonName 2626C>T
PEX6_00107 protEffect -
PEX6_00048 commonName 2644G>A
PEX6_00048 protEffect -
PEX6_00108 commonName 2663G>C
PEX6_00108 protEffect -
PEX6_00026 commonName 2666+2T>C
PEX6_00109 commonName 2667-2A>G
PEX6_00110 commonName 2726T>A
PEX6_00110 protEffect -
PEX6_00012 commonName 2735C>T
PEX6_00012 protEffect -
PEX6_00049 commonName 2770G>T
PEX6_00049 protEffect -
PEX6_00003 commonName 2788delG
PEX6_00003 protEffect -
PEX6_00111 commonName 2807-2A>G
PEX6_00111 protEffect -
PEX6_00040 commonName 2814A>G
PEX6_00040 protEffect -
PEX6_00041 commonName 2816C>A
PEX6_00041 protEffect -
PEX6_00050 commonName 2958C>T
PEX7_00038 commonName -95T>C
PEX7_00027 commonName -45C>T
PEX7_00027 protEffect -
PEX7_00031 commonName 12_18dupGTGCGGT
PEX7_00032 commonName 40A>C
PEX7_00032 protEffect -
PEX7_00030 commonName 45_52delGGGACGCC
PEX7_00030 protEffect -
PEX7_00036 commonName 45_52dupGGGACGCC
PEX7_00003 commonName 64_65delGC
PEX7_00016 commonName 74C>T
PEX7_00016 protEffect -
PEX7_00018 commonName 116A>C
PEX7_00018 protEffect -
PEX7_00011 commonName 120C>G
PEX7_00011 protEffect -
PEX7_00017 commonName 122G>T
PEX7_00017 protEffect -
PEX7_00026 commonName 130+1G>A
PEX7_00004 commonName 188+1G>A
PEX7_00005 commonName 188+1G>C
PEX7_00013 commonName 257G>T
PEX7_00013 protEffect -
PEX7_00033 commonName 329A>G
PEX7_00033 protEffect -
PEX7_00025 commonName 334C>T
PEX7_00025 protEffect -
PEX7_00024 commonName 340-10A>G
PEX7_00023 commonName 345T>G
PEX7_00023 protEffect -
PEX7_00037 commonName 370_396del27nt
PEX7_00037 protEffect -
PEX7_00015 commonName 395C>A
PEX7_00015 protEffect -
PEX7_00014 commonName 426delA
PEX7_00014 protEffect -
PEX7_00035 commonName 454A>T
PEX7_00035 protEffect -
PEX7_00020 commonName 490T>C
PEX7_00020 protEffect -
PEX7_00021 commonName 508_510delTGT
PEX7_00021 protEffect -
PEX7_00012 commonName 618G>A
PEX7_00012 protEffect -
PEX7_00006 commonName 649G>A
PEX7_00006 protEffect -
PEX7_00007 commonName 653C>T
PEX7_00007 protEffect -
PEX7_00008 commonName 747+1G>A
PEX7_00029 commonName 773T>C
PEX7_00029 protEffect -
PEX7_00010 commonName 785C>T
PEX7_00010 protEffect -
PEX7_00019 commonName 429delT
PEX7_00019 protEffect -
PEX7_00028 commonName 854A>G
PEX7_00028 protEffect -
PEX7_00009 commonName 870_871insCAA
PEX7_00009 protEffect -
PEX7_00001 commonName 875T>A
PEX7_00001 protEffect -
PEX7_00002 commonName 903+1G>C
PEX7_00034 commonName 917C>T
PEX7_00034 protEffect -
dbRIP_1000001 phenoCommon Breast Cancer
dbRIP_1000002 phenoCommon MHC related
dbRIP_1000003 phenoCommon MHC related
dbRIP_1000004 phenoCommon MHC related
dbRIP_1000005 phenoCommon MHC related;NA
dbRIP_1000014 phenoCommon NA;NA
dbRIP_1000018 phenoCommon Brachio-oto-renal (BOR) syndrome
dbRIP_1000019 phenoCommon Dent's disease, low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis
dbRIP_1000021 phenoCommon Apert Syndrome
dbRIP_1000022 phenoCommon Apert Syndrome
dbRIP_1000023 phenoCommon Neurofibromatosis
dbRIP_1000040 phenoCommon NA;NA
dbRIP_1000093 phenoCommon Hypertension
dbRIP_1000154 phenoCommon NA;NA
dbRIP_1000159 phenoCommon NA;NA
dbRIP_1000179 phenoCommon NA;NA
dbRIP_1000216 phenoCommon NA;NA
dbRIP_1000311 phenoCommon NA;NA
dbRIP_1000327 phenoCommon Myeloproliferative disorders;NA
dbRIP_1000381 phenoCommon NA;NA
dbRIP_1000390 phenoCommon NA;NA
dbRIP_1000472 phenoCommon NA;NA
dbRIP_1000533 phenoCommon NA;NA
dbRIP_1000539 phenoCommon NA;NA
dbRIP_1000617 phenoCommon NA;NA
dbRIP_1000643 phenoCommon NA;NA
dbRIP_1000682 phenoCommon NA;NA
dbRIP_1000698 phenoCommon NA;NA
dbRIP_1000714 phenoCommon NA;NA
dbRIP_1000731 phenoCommon NA;NA
dbRIP_1000755 phenoCommon NA;NA
dbRIP_1000797 phenoCommon NA;NA
dbRIP_1000997 phenoCommon NA;NA
dbRIP_1001031 phenoCommon NA;NA
dbRIP_1001036 phenoCommon NA;NA
dbRIP_1001042 phenoCommon NA;NA
dbRIP_1001055 phenoCommon NA;NA
dbRIP_1001313 phenoCommon MHC related;NA
dbRIP_1001388 phenoCommon NA;NA
dbRIP_1001389 phenoCommon NA;NA
dbRIP_1001393 phenoCommon NA;NA
dbRIP_1001395 phenoCommon NA;NA
dbRIP_1001396 phenoCommon NA;NA
dbRIP_1001397 phenoCommon NA;NA
dbRIP_1001398 phenoCommon NA;NA
dbRIP_1001399 phenoCommon NA;NA
dbRIP_1001400 phenoCommon NA;NA
dbRIP_1001403 phenoCommon NA;NA
dbRIP_1001404 phenoCommon NA;NA
dbRIP_1001405 phenoCommon NA;NA
dbRIP_1001406 phenoCommon NA;NA
dbRIP_1001407 phenoCommon NA;NA
dbRIP_1001408 phenoCommon NA;NA
dbRIP_1001410 phenoCommon NA;NA
dbRIP_1001411 phenoCommon NA;NA
dbRIP_1001412 phenoCommon NA;NA
dbRIP_1001413 phenoCommon NA;NA
dbRIP_1001415 phenoCommon NA;NA
dbRIP_1001416 phenoCommon NA;NA
dbRIP_1001418 phenoCommon NA;NA
dbRIP_1001420 phenoCommon NA;NA
dbRIP_1001421 phenoCommon NA;NA
dbRIP_1001422 phenoCommon NA;NA
dbRIP_1001423 phenoCommon NA;NA
dbRIP_1001424 phenoCommon NA;NA
dbRIP_1001426 phenoCommon NA;NA
dbRIP_1001427 phenoCommon NA;NA
dbRIP_1001428 phenoCommon NA;NA
dbRIP_1001429 phenoCommon NA;NA
dbRIP_1001430 phenoCommon NA;NA
dbRIP_1001431 phenoCommon NA;NA
dbRIP_1001432 phenoCommon NA;NA
dbRIP_1001438 phenoCommon NA;NA
dbRIP_1001439 phenoCommon NA;NA
dbRIP_1001441 phenoCommon NA;NA
dbRIP_1001442 phenoCommon NA;NA
dbRIP_1001443 phenoCommon NA;NA
dbRIP_1001444 phenoCommon NA;NA
dbRIP_1001445 phenoCommon NA;NA
dbRIP_1001446 phenoCommon NA;NA
dbRIP_1001447 phenoCommon NA;NA
dbRIP_1001450 phenoCommon NA;NA
dbRIP_1001451 phenoCommon NA;NA
dbRIP_1001452 phenoCommon NA;NA
dbRIP_1001453 phenoCommon NA;NA
dbRIP_1001455 phenoCommon NA;NA
dbRIP_1001456 phenoCommon NA;NA
dbRIP_1001457 phenoCommon NA;NA
dbRIP_1001458 phenoCommon NA;NA
dbRIP_1001462 phenoCommon NA;NA
dbRIP_1001463 phenoCommon NA;NA
dbRIP_1001464 phenoCommon NA;NA
dbRIP_1001465 phenoCommon NA;NA
dbRIP_1001466 phenoCommon NA;NA
dbRIP_1001467 phenoCommon NA;NA
dbRIP_1001468 phenoCommon NA;NA
dbRIP_1001469 phenoCommon NA;NA
dbRIP_1001471 phenoCommon NA;NA
dbRIP_1001472 phenoCommon NA;NA
dbRIP_1001473 phenoCommon NA;NA
dbRIP_1001475 phenoCommon NA;NA
dbRIP_1001476 phenoCommon NA;NA
dbRIP_1001477 phenoCommon NA;NA
dbRIP_1001478 phenoCommon NA;NA
dbRIP_1001479 phenoCommon NA;NA
dbRIP_1001480 phenoCommon NA;NA
dbRIP_1001481 phenoCommon NA;NA
dbRIP_1001482 phenoCommon NA;NA
dbRIP_1001483 phenoCommon NA;NA
dbRIP_1001484 phenoCommon NA;NA
dbRIP_1001485 phenoCommon NA;NA
dbRIP_1001486 phenoCommon NA;NA
dbRIP_1001487 phenoCommon NA;NA
dbRIP_1001490 phenoCommon NA;NA
dbRIP_1001491 phenoCommon NA;NA
dbRIP_1001492 phenoCommon NA;NA
dbRIP_1001493 phenoCommon NA;NA
dbRIP_1001495 phenoCommon NA;NA
dbRIP_1001496 phenoCommon NA;NA
dbRIP_1001498 phenoCommon NA;NA
dbRIP_1001503 phenoCommon NA;NA
dbRIP_1001504 phenoCommon NA;NA
dbRIP_1001505 phenoCommon NA;NA
dbRIP_1001506 phenoCommon NA;NA
dbRIP_1001508 phenoCommon NA;NA
dbRIP_1001511 phenoCommon NA;NA
dbRIP_1001512 phenoCommon NA;NA
dbRIP_1001513 phenoCommon NA;NA
dbRIP_1001514 phenoCommon NA;NA
dbRIP_1001518 phenoCommon NA;NA
dbRIP_1001519 phenoCommon NA;NA
dbRIP_1001520 phenoCommon NA;NA
dbRIP_1001521 phenoCommon NA;NA
dbRIP_1001523 phenoCommon NA;NA
dbRIP_1001524 phenoCommon NA;NA
dbRIP_1001527 phenoCommon NA;NA
dbRIP_1001529 phenoCommon NA;NA
dbRIP_1001530 phenoCommon NA;NA
dbRIP_1001531 phenoCommon NA;NA
dbRIP_1001532 phenoCommon NA;NA
dbRIP_1001534 phenoCommon NA;NA
dbRIP_1001535 phenoCommon NA;NA
dbRIP_1001536 phenoCommon NA;NA
dbRIP_1001537 phenoCommon NA;NA
dbRIP_1001539 phenoCommon NA;NA
dbRIP_1001540 phenoCommon NA;NA
dbRIP_1001542 phenoCommon NA;NA
dbRIP_1001544 phenoCommon NA;NA
dbRIP_1001545 phenoCommon NA;NA
dbRIP_1001548 phenoCommon NA;NA
dbRIP_1001550 phenoCommon NA;NA
dbRIP_1001551 phenoCommon NA;NA
dbRIP_1001552 phenoCommon NA;NA
dbRIP_1001555 phenoCommon NA;NA
dbRIP_1001557 phenoCommon NA;NA
dbRIP_1001558 phenoCommon NA;NA
dbRIP_1001559 phenoCommon NA;NA
dbRIP_1001560 phenoCommon NA;NA
dbRIP_1001561 phenoCommon NA;NA
dbRIP_1001562 phenoCommon NA;NA
dbRIP_1001564 phenoCommon NA;NA
dbRIP_1001570 phenoCommon NA;NA
dbRIP_1001575 phenoCommon NA;NA
dbRIP_1001576 phenoCommon NA;NA
dbRIP_1001577 phenoCommon NA;NA
dbRIP_1001578 phenoCommon NA;NA
dbRIP_1001579 phenoCommon NA;NA
dbRIP_1001580 phenoCommon NA;NA
dbRIP_1001581 phenoCommon NA;NA
dbRIP_1001582 phenoCommon NA;NA
dbRIP_1001583 phenoCommon NA;NA
dbRIP_1001585 phenoCommon NA;NA
dbRIP_1001602 phenoCommon NA;NA
dbRIP_1001603 phenoCommon Associated with leukemia
dbRIP_1001604 phenoCommon Huntington disease
dbRIP_1001605 phenoCommon Acholinesterasemia
dbRIP_1001606 phenoCommon Acute intermittent porphyria
dbRIP_1001607 phenoCommon C1 inhibitor deficiency
dbRIP_1001608 phenoCommon Glycerol kinase deficiency
dbRIP_1001609 phenoCommon Familial hypocalciuric hypercalcemia
dbRIP_1001610 phenoCommon Hereditary desmoid disease
dbRIP_1001611 phenoCommon Hemophilia B
dbRIP_1001612 phenoCommon breast/ovarian cancer
dbRIP_1001613 phenoCommon Breast cancer
dbRIP_1001614 phenoCommon Retinitis Pigmentosa
dbRIP_1001615 phenoCommon Hemophilia A
dbRIP_1001616 phenoCommon Mowat-Wilson syndrome
dbRIP_1001617 phenoCommon Adrenoleukodystrophy
dbRIP_1001618 phenoCommon Familial Adenomatous Polyposis
dbRIP_1001619 phenoCommon Haemophilia
dbRIP_1001620 phenoCommon ALPS
dbRIP_1001621 phenoCommon Haemophilia B;Haemophilia B
dbRIP_1002086 phenoCommon ADOA
dbRIP_4000007 phenoCommon intron:PSD3:NM:206909:5/13
dbRIP_2000003 phenoCommon NA;NA
dbRIP_2000005 phenoCommon NA;NA
dbRIP_2000011 phenoCommon NA;NA
dbRIP_2000017 phenoCommon NA;NA
dbRIP_2000023 phenoCommon NA;NA
dbRIP_2000024 phenoCommon NA;NA
dbRIP_2000026 phenoCommon NA;NA
dbRIP_2000028 phenoCommon NA;NA
dbRIP_2000029 phenoCommon NA;NA
dbRIP_2000033 phenoCommon NA;NA
dbRIP_2000034 phenoCommon NA;NA
dbRIP_2000041 phenoCommon NA;NA
dbRIP_2000053 phenoCommon NA;NA
dbRIP_2000057 phenoCommon NA;NA
dbRIP_2000061 phenoCommon NA;NA
dbRIP_2000074 phenoCommon NA;NA
dbRIP_2000077 phenoCommon NA;NA;NA
dbRIP_2000080 phenoCommon NA;NA
dbRIP_2000081 phenoCommon NA;NA
dbRIP_2000083 phenoCommon NA;NA
dbRIP_2000085 phenoCommon NA;NA
dbRIP_2000087 phenoCommon NA;NA
dbRIP_2000097 phenoCommon NA;NA
dbRIP_2000100 phenoCommon NA;NA
dbRIP_2000109 phenoCommon NA;NA
dbRIP_2000112 phenoCommon NA;NA
dbRIP_2000116 phenoCommon NA;NA
dbRIP_2000124 phenoCommon NA;NA
dbRIP_2000133 phenoCommon NA;NA
dbRIP_2000134 phenoCommon NA;NA
dbRIP_2000138 phenoCommon NA;NA
dbRIP_2000143 phenoCommon NA;NA
dbRIP_2000148 phenoCommon NA;NA
dbRIP_2000187 phenoCommon NA;NA;NA
dbRIP_2000193 phenoCommon NA;NA
dbRIP_2000206 phenoCommon NA;NA;NA
dbRIP_2000207 phenoCommon NA;NA
dbRIP_2000217 phenoCommon NA;NA
dbRIP_2000228 phenoCommon NA;NA
dbRIP_2000240 phenoCommon NA;NA
dbRIP_2000246 phenoCommon NA;NA
dbRIP_2000252 phenoCommon NA;NA
dbRIP_2000259 phenoCommon NA;NA
dbRIP_2000260 phenoCommon NA;NA
dbRIP_2000273 phenoCommon NA;NA
dbRIP_2000274 phenoCommon NA;NA
dbRIP_2000275 phenoCommon NA;NA
dbRIP_2000281 phenoCommon NA;NA;NA
dbRIP_2000285 phenoCommon NA;NA
dbRIP_2000289 phenoCommon NA;NA
dbRIP_2000290 phenoCommon NA;NA;NA
dbRIP_2000292 phenoCommon NA;NA
dbRIP_2000293 phenoCommon NA;NA
dbRIP_2000295 phenoCommon NA;NA
dbRIP_2000300 phenoCommon NA;NA
dbRIP_2000307 phenoCommon NA;NA;NA
dbRIP_2000313 phenoCommon NA;NA
dbRIP_2000315 phenoCommon NA;NA
dbRIP_2000317 phenoCommon NA;NA
dbRIP_2000318 phenoCommon NA;NA
dbRIP_2000320 phenoCommon NA;NA;NA
dbRIP_2000328 phenoCommon NA;NA
dbRIP_2000338 phenoCommon NA;NA;NA
dbRIP_2000387 phenoCommon NA;NA
dbRIP_2000390 phenoCommon b-Globin related
dbRIP_2000391 phenoCommon Haemophilia A
dbRIP_2000392 phenoCommon Dystrophin related
dbRIP_2000393 phenoCommon Haemophilia A
dbRIP_2000394 phenoCommon Fukutin related
dbRIP_2000395 phenoCommon Colon cancer
dbRIP_2000396 phenoCommon Dystrophin related
dbRIP_2000397 phenoCommon RP2 related
dbRIP_2000398 phenoCommon severe hemophilia B
dbRIP_2000399 phenoCommon Chronic granulomatous disease
dbRIP_2000400 phenoCommon Coffin-Lowry syndrome (CLS)
dbRIP_2000401 phenoCommon Choroideremia
dbRIP_2000402 phenoCommon X-linked dilated cardiomyopathy
dbRIP_2000403 phenoCommon Haemophilia B
dbRIP_2000404 phenoCommon Chronic granulomatous disease
dbRIP_2000441 phenoCommon NA;NA
dbRIP_2000464 phenoCommon NA;NA
dbRIP_2000490 phenoCommon NA;NA
dbRIP_2000496 phenoCommon NA;NA
dbRIP_2000499 phenoCommon NA;NA
dbRIP_2000512 phenoCommon NA;NA
dbRIP_2000516 phenoCommon NA;NA
dbRIP_2000525 phenoCommon NA;NA
dbRIP_2000526 phenoCommon NA;NA
dbRIP_2000537 phenoCommon NA;NA
dbRIP_2000563 phenoCommon NA;NA
dbRIP_3000039 phenoCommon Hereditary elliptocytosis
dbRIP_3000040 phenoCommon Fukuyama-type congenital muscular dystrophy
dbRIP_3000041 phenoCommon Immunodeficiency X-linked Agammaglobulinemia (XLA)
ALPL_c.-195C>T commonName
ALPL_c.-195C>T phenoCommon perinatal hypophosphatasia
ALPL_c.-195C>T protEffect
ALPL_c.3G>A commonName M-17I
ALPL_c.3G>A phenoCommon adult hypophosphatasia
ALPL_c.3G>A protEffect p.M1I
ALPL_c.17T>A commonName L-12X
ALPL_c.17T>A phenoCommon childhood hypophosphatasia
ALPL_c.17T>A protEffect p.L6X
ALPL_c.41T>C commonName L-4P
ALPL_c.41T>C phenoCommon adult hypophosphatasia
ALPL_c.41T>C protEffect p.L14P
ALPL_c.43_46delACTA commonName
ALPL_c.43_46delACTA phenoCommon infantile hypophosphatasia
ALPL_c.43_46delACTA protEffect p.N16PfsX2
ALPL_c.50C>T commonName S-1F
ALPL_c.50C>T phenoCommon infantile hypophosphatasia
ALPL_c.50C>T protEffect p.S17F
ALPL_c.83A>G commonName Y11C
ALPL_c.83A>G phenoCommon infantile hypophosphatasia
ALPL_c.83A>G protEffect p.Y28C
ALPL_c.88C>T commonName R13X
ALPL_c.88C>T phenoCommon perinatal hypophosphatasia
ALPL_c.88C>T protEffect p.R30X
ALPL_c.94C>T commonName Q15X
ALPL_c.94C>T phenoCommon perinatal hypophosphatasia
ALPL_c.94C>T protEffect p.Q32X
ALPL_c.98C>T commonName A16V
ALPL_c.98C>T phenoCommon childhood hypophosphatasia
ALPL_c.98C>T protEffect p.A33V
ALPL_c.106A>C commonName T19P
ALPL_c.106A>C phenoCommon perinatal hypophosphatasia
ALPL_c.106A>C protEffect p.T36P
ALPL_c.110T>C commonName L20P
ALPL_c.110T>C phenoCommon perinatal hypophosphatasia
ALPL_c.110T>C protEffect p.L37P
ALPL_c.119C>T commonName A23V
ALPL_c.119C>T phenoCommon perinatal hypophosphatasia
ALPL_c.119C>T protEffect p.A40V
ALPL_c.130C>T commonName Q27X
ALPL_c.130C>T phenoCommon perinatal hypophosphatasia
ALPL_c.130C>T protEffect p.Q44X
ALPL_c.151G>T commonName A34S
ALPL_c.151G>T phenoCommon infantile hypophosphatasia
ALPL_c.151G>T protEffect p.A51S
ALPL_c.152C>T commonName A34V
ALPL_c.152C>T phenoCommon infantile hypophosphatasia
ALPL_c.152C>T protEffect p.A51V
ALPL_c.184A>T commonName M45L
ALPL_c.184A>T phenoCommon infantile hypophosphatasia
ALPL_c.184A>T protEffect p.M62L
ALPL_c.184A>G commonName M45V
ALPL_c.184A>G phenoCommon infantile hypophosphatasia
ALPL_c.184A>G protEffect p.M62V
ALPL_c.186G>C commonName M45I
ALPL_c.186G>C phenoCommon childhood hypophosphatasia
ALPL_c.186G>C protEffect p.M62I
ALPL_c.187G>C commonName G46R
ALPL_c.187G>C phenoCommon infantile hypophosphatasia
ALPL_c.187G>C protEffect p.G63R
ALPL_c.187_205del19 commonName
ALPL_c.187_205del19 phenoCommon adult hypophosphatasia
ALPL_c.187_205del19 protEffect p.G63LfsX53
ALPL_c.188G>T commonName G46V
ALPL_c.188G>T phenoCommon infantile hypophosphatasia
ALPL_c.188G>T protEffect p.G63V
ALPL_c.203C>T commonName T51M
ALPL_c.203C>T phenoCommon childhood hypophosphatasia
ALPL_c.203C>T protEffect p.T68M
ALPL_c.211C>T commonName R54C
ALPL_c.211C>T phenoCommon infantile hypophosphatasia
ALPL_c.211C>T protEffect p.R71C
ALPL_c.211C>A commonName R54S
ALPL_c.211C>A phenoCommon childhood hypophosphatasia
ALPL_c.211C>A protEffect p.R71S
ALPL_c.212G>C commonName R54P
ALPL_c.212G>C phenoCommon perinatal hypophosphatasia
ALPL_c.212G>C protEffect p.R71P
ALPL_c.212G>A commonName R54H
ALPL_c.212G>A phenoCommon perinatal hypophosphatasia
ALPL_c.212G>A protEffect p.R71H
ALPL_c.215T>C commonName I55T
ALPL_c.215T>C phenoCommon odonto hypophosphatasia
ALPL_c.215T>C protEffect p.I72T
ALPL_c.223G>A commonName G58S
ALPL_c.223G>A phenoCommon infantile hypophosphatasia
ALPL_c.223G>A protEffect p.G75S
ALPL_c.227A>G commonName Q59R
ALPL_c.227A>G phenoCommon infantile hypophosphatasia
ALPL_c.227A>G protEffect p.Q76R
ALPL_c.242delC commonName
ALPL_c.242delC phenoCommon perinatal hypophosphatasia
ALPL_c.242delC protEffect p.P81LfsX41
ALPL_c.247G>T commonName E66X
ALPL_c.247G>T phenoCommon infantile hypophosphatasia
ALPL_c.247G>T protEffect p.E83X
ALPL_c.251A>T commonName E67V
ALPL_c.251A>T phenoCommon odonto hypophosphatasia
ALPL_c.251A>T protEffect p.E84V
ALPL_c.262G>A commonName E71K
ALPL_c.262G>A phenoCommon infantile hypophosphatasia
ALPL_c.262G>A protEffect p.E88K
ALPL_c.277C>T commonName P76S
ALPL_c.277C>T phenoCommon prenat. benign hypophosphatasia
ALPL_c.277C>T protEffect p.P93S
ALPL_c.297+3G>T commonName
ALPL_c.297+3G>T phenoCommon infantile hypophosphatasia
ALPL_c.297+3G>T protEffect
ALPL_c.298-2A>G commonName
ALPL_c.298-2A>G phenoCommon perinatal hypophosphatasia
ALPL_c.298-2A>G protEffect
ALPL_c.299C>T commonName T83M
ALPL_c.299C>T phenoCommon infantile hypophosphatasia
ALPL_c.299C>T protEffect p.T100M
ALPL_c.303_311del commonName N85_N87del
ALPL_c.303_311del phenoCommon perinatal hypophosphatasia
ALPL_c.303_311del protEffect p.N102_N104del
ALPL_c.318G>C commonName Q89H
ALPL_c.318G>C phenoCommon infantile hypophosphatasia
ALPL_c.318G>C protEffect p.Q106H
ALPL_c.323C>T commonName P91L
ALPL_c.323C>T phenoCommon odonto hypophosphatasia
ALPL_c.323C>T protEffect p.P108L
ALPL_c.331G>A commonName A94T
ALPL_c.331G>A phenoCommon odonto hypophosphatasia
ALPL_c.331G>A protEffect p.A111T
ALPL_c.334G>A commonName G95S
ALPL_c.334G>A phenoCommon infantile hypophosphatasia
ALPL_c.334G>A protEffect p.G112S
ALPL_c.335_340dupGCACCG commonName G95_96dup
ALPL_c.335_340dupGCACCG phenoCommon prenatal benign hypophosphatasia
ALPL_c.335_340dupGCACCG protEffect p.G112_113dup
ALPL_c.340G>A commonName A97T
ALPL_c.340G>A phenoCommon infantile hypophosphatasia
ALPL_c.340G>A protEffect p.A114T
ALPL_c.341C>G commonName A97G
ALPL_c.341C>G phenoCommon perinatal hypophosphatasia
ALPL_c.341C>G protEffect p.A114G
ALPL_c.346G>T commonName A99S
ALPL_c.346G>T phenoCommon adult hypophosphatasia
ALPL_c.346G>T protEffect p.A116S
ALPL_c.346G>A commonName A99T
ALPL_c.346G>A phenoCommon adult hypophosphatasia
ALPL_c.346G>A protEffect p.A116T
ALPL_c.348_349insACCGTC commonName
ALPL_c.348_349insACCGTC phenoCommon perinatal hypophosphatasia
ALPL_c.348_349insACCGTC protEffect p.A116_Y117insTV
ALPL_c.343_348dupACCGCC commonName
ALPL_c.343_348dupACCGCC phenoCommon odonto hypophosphatasia
ALPL_c.343_348dupACCGCC protEffect p.T115_A116dup
ALPL_c.350A>G commonName Y100C
ALPL_c.350A>G phenoCommon childhood hypophosphatasia
ALPL_c.350A>G protEffect p.Y117C
ALPL_c.358G>A commonName G103R
ALPL_c.358G>A phenoCommon perinatal hypophosphatasia
ALPL_c.358G>A protEffect p.G120R
ALPL_c.368C>A commonName A106D
ALPL_c.368C>A phenoCommon perinatal hypophosphatasia
ALPL_c.368C>A protEffect p.A123D
ALPL_c.382G>A commonName V111M
ALPL_c.382G>A phenoCommon perinatal hypophosphatasia
ALPL_c.382G>A protEffect p.V128M
ALPL_c.385G>A commonName G112R
ALPL_c.385G>A phenoCommon perinatal hypophosphatasia
ALPL_c.385G>A protEffect p.G129R
ALPL_c.388_391delGTAA commonName
ALPL_c.388_391delGTAA phenoCommon perinatal hypophosphatasia
ALPL_c.388_391delGTAA protEffect p.V130AfsX34
ALPL_c.389delT commonName
ALPL_c.389delT phenoCommon perinatal hypophosphatasia
ALPL_c.389delT protEffect p.V130EfsX35
ALPL_c.392delG commonName
ALPL_c.392delG phenoCommon perinat/infant hypophosphatasia
ALPL_c.392delG protEffect p.S131TfsX34
ALPL_c.394G>A commonName A115T
ALPL_c.394G>A phenoCommon adult hypophosphatasia
ALPL_c.394G>A protEffect p.A132T
ALPL_c.395C>T commonName A115V
ALPL_c.395C>T phenoCommon adult hypophosphatasia
ALPL_c.395C>T protEffect p.A132V
ALPL_c.400_401delinsCA commonName T117H
ALPL_c.400_401delinsCA phenoCommon perinatal hypophosphatasia
ALPL_c.400_401delinsCA protEffect p.T134H
ALPL_c.401C>A commonName T117N
ALPL_c.401C>A phenoCommon perinatal hypophosphatasia
ALPL_c.401C>A protEffect p.T134N
ALPL_c.406C>T commonName R119C
ALPL_c.406C>T phenoCommon odonto hypophosphatasia
ALPL_c.406C>T protEffect p.R136C
ALPL_c.407G>A commonName R119H
ALPL_c.407G>A phenoCommon infantile hypophosphatasia
ALPL_c.407G>A protEffect p.R136H
ALPL_c.422C>T commonName T124I
ALPL_c.422C>T phenoCommon infantile hypophosphatasia
ALPL_c.422C>T protEffect p.T141I
ALPL_c.442A>G commonName T131A
ALPL_c.442A>G phenoCommon perinatal hypophosphatasia
ALPL_c.442A>G protEffect p.T148A
ALPL_c.443C>T commonName T131I
ALPL_c.443C>T phenoCommon infantile hypophosphatasia
ALPL_c.443C>T protEffect p.T148I
ALPL_c.454C>T commonName R135C
ALPL_c.454C>T phenoCommon adult hypophosphatasia
ALPL_c.454C>T protEffect p.R152C
ALPL_c.457T>C commonName W136R
ALPL_c.457T>C phenoCommon prenatal benign hypophosphatasia
ALPL_c.457T>C protEffect p.W153R
ALPL_c.472+1G>A commonName
ALPL_c.472+1G>A phenoCommon odonto hypophosphatasia
ALPL_c.472+1G>A protEffect
ALPL_c.480delT commonName
ALPL_c.480delT phenoCommon perinatal hypophosphatasia
ALPL_c.480delT protEffect
ALPL_c.484G>A commonName G145S
ALPL_c.484G>A phenoCommon infantile hypophosphatasia
ALPL_c.484G>A protEffect p.G162S
ALPL_c.485G>T commonName G145V
ALPL_c.485G>T phenoCommon infantile hypophosphatasia
ALPL_c.485G>T protEffect p.G162V
ALPL_c.491T>G commonName V147G
ALPL_c.491T>G phenoCommon infantile hypophosphatasia
ALPL_c.491T>G protEffect p.V164G
ALPL_c.500C>T commonName T150M
ALPL_c.500C>T phenoCommon infantile hypophosphatasia
ALPL_c.500C>T protEffect p.T167M
ALPL_c.508A>G commonName N153D
ALPL_c.508A>G phenoCommon perinatal hypophosphatasia
ALPL_c.508A>G protEffect p.N170D
ALPL_c.511C>T commonName H154Y
ALPL_c.511C>T phenoCommon infantile hypophosphatasia
ALPL_c.511C>T protEffect p.H171Y
ALPL_c.512A>G commonName H154R
ALPL_c.512A>G phenoCommon adult hypophosphatasia
ALPL_c.512A>G protEffect p.H171R
ALPL_c.526G>A commonName A159T
ALPL_c.526G>A phenoCommon childhood hypophosphatasia
ALPL_c.526G>A protEffect p.A176T
ALPL_c.529G>A commonName A160T
ALPL_c.529G>A phenoCommon adult hypophosphatasia
ALPL_c.529G>A protEffect p.A177T
ALPL_c.535G>A commonName A162T
ALPL_c.535G>A phenoCommon perinatal hypophosphatasia
ALPL_c.535G>A protEffect p.A179T
ALPL_c.542C>T commonName S164L
ALPL_c.542C>T phenoCommon infantile hypophosphatasia
ALPL_c.542C>T protEffect p.S181L
ALPL_c.544delG commonName
ALPL_c.544delG phenoCommon perinatal hypophosphatasia
ALPL_c.544delG protEffect p.A182LfsX16
ALPL_c.547G>C commonName D166H
ALPL_c.547G>C phenoCommon infantile hypophosphatasia
ALPL_c.547G>C protEffect p.D183H
ALPL_c.550C>T commonName R167W
ALPL_c.550C>T phenoCommon perinatal hypophosphatasia
ALPL_c.550C>T protEffect p.R184W
ALPL_c.567C>A commonName D172E
ALPL_c.567C>A phenoCommon perinatal hypophosphatasia
ALPL_c.567C>A protEffect p.D189E
ALPL_c.568_570delAAC commonName N173del
ALPL_c.568_570delAAC phenoCommon perinatal hypophosphatasia
ALPL_c.568_570delAAC protEffect p.N190del
ALPL_c.571G>A commonName E174K
ALPL_c.571G>A phenoCommon infantile hypophosphatasia
ALPL_c.571G>A protEffect p.E191K
ALPL_c.572A>G commonName E174G
ALPL_c.572A>G phenoCommon odonto hypophosphatasia
ALPL_c.572A>G protEffect p.E191G
ALPL_c.575T>C commonName M175T
ALPL_c.575T>C phenoCommon infantile hypophosphatasia
ALPL_c.575T>C protEffect p.M192T
ALPL_c.577C>G commonName P176A
ALPL_c.577C>G phenoCommon adult hypophosphatasia
ALPL_c.577C>G protEffect p.P193A
ALPL_c.602G>A commonName C184Y
ALPL_c.602G>A phenoCommon perinatal hypophosphatasia
ALPL_c.602G>A protEffect p.C201Y
ALPL_c.609C>G commonName D186E
ALPL_c.609C>G phenoCommon perinatal hypophosphatasia
ALPL_c.609C>G protEffect p.D203E
ALPL_c.620A>C commonName Q190P
ALPL_c.620A>C phenoCommon perinatal hypophosphatasia
ALPL_c.620A>C protEffect p.Q207P
ALPL_c.622C>T commonName L191F
ALPL_c.622C>T phenoCommon perinatal hypophosphatasia
ALPL_c.622C>T protEffect p.L208F
ALPL_c.630_637dupTAACATCA commonName
ALPL_c.630_637dupTAACATCA phenoCommon perinatal hypophosphatasia
ALPL_c.630_637dupTAACATCA protEffect p.R213IfsX8
ALPL_c.631A>G commonName N194D
ALPL_c.631A>G phenoCommon infantile hypophosphatasia
ALPL_c.631A>G protEffect p.N211D
ALPL_c.634A>T commonName I195F
ALPL_c.634A>T phenoCommon perinatal hypophosphatasia
ALPL_c.634A>T protEffect p.I212F
ALPL_c.644T>C commonName I198T
ALPL_c.644T>C phenoCommon infantile hypophosphatasia
ALPL_c.644T>C protEffect p.I215T
ALPL_c.648+1G>T commonName
ALPL_c.648+1G>T phenoCommon perinatal hypophosphatasia
ALPL_c.648+1G>T protEffect
ALPL_c.648+1G>A commonName
ALPL_c.648+1G>A phenoCommon perinatal hypophosphatasia
ALPL_c.648+1G>A protEffect
ALPL_c.649-1_649-3delinsAA commonName
ALPL_c.649-1_649-3delinsAA phenoCommon perinatal hypophosphatasia
ALPL_c.649-1_649-3delinsAA protEffect
ALPL_c.650delTinsCTAA commonName
ALPL_c.650delTinsCTAA phenoCommon perinatal hypophosphatasia
ALPL_c.650delTinsCTAA protEffect p.217delVinsAK
ALPL_c.653T>C commonName I201T
ALPL_c.653T>C phenoCommon perinatal hypophosphatasia
ALPL_c.653T>C protEffect p.I218T
ALPL_c.658G>A commonName G203R
ALPL_c.658G>A phenoCommon perinatal hypophosphatasia
ALPL_c.658G>A protEffect p.G220R
ALPL_c.659G>T commonName G203V
ALPL_c.659G>T phenoCommon odonto hypophosphatasia
ALPL_c.659G>T protEffect p.G220V
ALPL_c.659G>C commonName G203A
ALPL_c.659G>C phenoCommon perinatal hypophosphatasia
ALPL_c.659G>C protEffect p.G220A
ALPL_c.661G>C commonName G204R
ALPL_c.661G>C phenoCommon perinatal hypophosphatasia
ALPL_c.661G>C protEffect p.G221R
ALPL_c.662_663insG commonName
ALPL_c.662_663insG phenoCommon perinatal hypophosphatasia
ALPL_c.662_663insG protEffect p.G222WfsX10
ALPL_c.662delG commonName
ALPL_c.662delG phenoCommon perinatal hypophosphatasia
ALPL_c.662delG protEffect p.G221VfsX56
ALPL_c.662G>T commonName G204V
ALPL_c.662G>T phenoCommon perinatal hypophosphatasia
ALPL_c.662G>T protEffect p.G221V
ALPL_c.667C>T commonName R206W
ALPL_c.667C>T phenoCommon perinatal hypophosphatasia
ALPL_c.667C>T protEffect p.R223W
ALPL_c.668G>A commonName R206Q
ALPL_c.668G>A phenoCommon perinatal hypophosphatasia
ALPL_c.668G>A protEffect p.R223Q
ALPL_c.670A>G commonName K207E
ALPL_c.670A>G phenoCommon infantile hypophosphatasia
ALPL_c.670A>G protEffect p.K224E
ALPL_c.677T>C commonName M209T
ALPL_c.677T>C phenoCommon infantile hypophosphatasia
ALPL_c.677T>C protEffect p.M226T
ALPL_c.704A>G commonName E218G
ALPL_c.704A>G phenoCommon adult hypophosphatasia
ALPL_c.704A>G protEffect p.E235G
ALPL_c.738G>T commonName R229S
ALPL_c.738G>T phenoCommon childhood hypophosphatasia
ALPL_c.738G>T protEffect p.R246S
ALPL_c.746G>T commonName G232V
ALPL_c.746G>T phenoCommon perinatal hypophosphatasia
ALPL_c.746G>T protEffect p.G249V
ALPL_c.791A>G commonName K247R
ALPL_c.791A>G phenoCommon perinatal hypophosphatasia
ALPL_c.791A>G protEffect p.K264R
ALPL_c.792G>A commonName K247K
ALPL_c.792G>A phenoCommon perinatal hypophosphatasia
ALPL_c.792G>A protEffect p.K264K
ALPL_c.797_802del commonName S249_H250del
ALPL_c.797_802del phenoCommon perinatal hypophosphatasia
ALPL_c.797_802del protEffect p.S266_H267del
ALPL_c.809G>A commonName W253X
ALPL_c.809G>A phenoCommon perinatal hypophosphatasia
ALPL_c.809G>A protEffect p.W270X
ALPL_c.814C>T commonName R255C
ALPL_c.814C>T phenoCommon perinatal hypophosphatasia
ALPL_c.814C>T protEffect p.R272C
ALPL_c.814delC commonName
ALPL_c.814delC phenoCommon perinatal hypophosphatasia
ALPL_c.814delC protEffect p.R272AfsX5
ALPL_c.815G>T commonName R255L
ALPL_c.815G>T phenoCommon perinatal hypophosphatasia
ALPL_c.815G>T protEffect p.R272L
ALPL_c.815G>A commonName R255H
ALPL_c.815G>A phenoCommon infantile hypophosphatasia
ALPL_c.815G>A protEffect p.R272H
ALPL_c.824T>C commonName L258P
ALPL_c.824T>C phenoCommon childhood hypophosphatasia
ALPL_c.824T>C protEffect p.L275P
ALPL_c.853_854insGATC commonName Y268X
ALPL_c.853_854insGATC phenoCommon perinatal hypophosphatasia
ALPL_c.853_854insGATC protEffect p.Y285X
ALPL_c.862+5G>A commonName
ALPL_c.862+5G>A phenoCommon infantile hypophosphatasia
ALPL_c.862+5G>A protEffect
ALPL_c.865C>T commonName L272F
ALPL_c.865C>T phenoCommon infantile hypophosphatasia
ALPL_c.865C>T protEffect p.L289F
ALPL_c.871G>A commonName E274K
ALPL_c.871G>A phenoCommon infantile hypophosphatasia
ALPL_c.871G>A protEffect p.E291K
ALPL_c.871G>T commonName E274X
ALPL_c.871G>T phenoCommon perinatal hypophosphatasia
ALPL_c.871G>T protEffect p.E291X
ALPL_c.871G>C commonName E274Q
ALPL_c.871G>C phenoCommon perinatal hypophosphatasia
ALPL_c.871G>C protEffect p.E291Q
ALPL_c.874C>A commonName P275T
ALPL_c.874C>A phenoCommon infantile hypophosphatasia
ALPL_c.874C>A protEffect p.P292T
ALPL_c.876_881delAGGGGA commonName G276_D277del
ALPL_c.876_881delAGGGGA phenoCommon perinatal hypophosphatasia
ALPL_c.876_881delAGGGGA protEffect p.G293_D294del
ALPL_c.880G>T commonName D277Y
ALPL_c.880G>T phenoCommon infantile hypophosphatasia
ALPL_c.880G>T protEffect p.D294Y
ALPL_c.881A>C commonName D277A
ALPL_c.881A>C phenoCommon infantile hypophosphatasia
ALPL_c.881A>C protEffect p.D294A
ALPL_c.883A>G commonName M278V
ALPL_c.883A>G phenoCommon childhood hypophosphatasia
ALPL_c.883A>G protEffect p.M295V
ALPL_c.884T>C commonName M278T
ALPL_c.884T>C phenoCommon perinatal hypophosphatasia
ALPL_c.884T>C protEffect p.M295T
ALPL_c.885G>A commonName M278I
ALPL_c.885G>A phenoCommon perinatal hypophosphatasia
ALPL_c.885G>A protEffect p.M295I
ALPL_c.886C>T commonName Q279X
ALPL_c.886C>T phenoCommon adult hypophosphatasia
ALPL_c.886C>T protEffect p.Q296X
ALPL_c.889T>G commonName Y280D
ALPL_c.889T>G phenoCommon childhood hypophosphatasia
ALPL_c.889T>G protEffect p.Y297D
ALPL_c.889T>C commonName Y280H
ALPL_c.889T>C phenoCommon perinatal hypophosphatasia
ALPL_c.889T>C protEffect p.Y297H
ALPL_c.891C>A commonName Y280X
ALPL_c.891C>A phenoCommon Infantile hypophosphatasia
ALPL_c.891C>A protEffect p.Y297X
ALPL_c.892G>A commonName E281K
ALPL_c.892G>A phenoCommon infantile hypophosphatasia
ALPL_c.892G>A protEffect p.E298K
ALPL_c.896T>C commonName L282P
ALPL_c.896T>C phenoCommon infantile hypophosphatasia
ALPL_c.896T>C protEffect p.L299P
ALPL_c.917A>T commonName D289V
ALPL_c.917A>T phenoCommon infantile hypophosphatasia
ALPL_c.917A>T protEffect p.D306V
ALPL_c.919C>T commonName P290S
ALPL_c.919C>T phenoCommon infantile hypophosphatasia
ALPL_c.919C>T protEffect p.P307S
ALPL_c.920C>T commonName P290L
ALPL_c.920C>T phenoCommon childhood hypophosphatasia
ALPL_c.920C>T protEffect p.P307L
ALPL_c.928_929delTC commonName
ALPL_c.928_929delTC phenoCommon perinatal hypophosphatasia
ALPL_c.928_929delTC protEffect p.S310RfsX27
ALPL_c.931G>A commonName E294K
ALPL_c.931G>A phenoCommon perinatal hypophosphatasia
ALPL_c.931G>A protEffect p.E311K
ALPL_c.952C>T commonName Q301X
ALPL_c.952C>T phenoCommon perinatal hypophosphatasia
ALPL_c.952C>T protEffect p.Q318X
ALPL_c.963delG commonName
ALPL_c.963delG phenoCommon perinatal hypophosphatasia
ALPL_c.963delG protEffect p.K322RfsX44
ALPL_c.969C>G commonName N306K
ALPL_c.969C>G phenoCommon childhood hypophosphatasia
ALPL_c.969C>G protEffect p.N323K
ALPL_c.976G>C commonName G309R
ALPL_c.976G>C phenoCommon perinatal hypophosphatasia
ALPL_c.976G>C protEffect p.G326R
ALPL_c.977G>T commonName G309V
ALPL_c.977G>T phenoCommon perinatal hypophosphatasia
ALPL_c.977G>T protEffect p.G326V
ALPL_c.984_986delCTT commonName F310del
ALPL_c.984_986delCTT phenoCommon infantile hypophosphatasia
ALPL_c.984_986delCTT protEffect p.F328del
ALPL_c.979T>G commonName F310C
ALPL_c.979T>G phenoCommon perinatal hypophosphatasia
ALPL_c.979T>G protEffect p.F327C
ALPL_c.979_980delinsGG commonName F310G
ALPL_c.979_980delinsGG phenoCommon adult hypophosphatasia
ALPL_c.979_980delinsGG protEffect p.F327G
ALPL_c.979T>C commonName F310L
ALPL_c.979T>C phenoCommon infantile hypophosphatasia
ALPL_c.979T>C protEffect p.F327L
ALPL_c.982T>C commonName F311L
ALPL_c.982T>C phenoCommon perinatal non-lethal hypophosphatasia
ALPL_c.982T>C protEffect p.F328L
ALPL_c.997+1G>T commonName
ALPL_c.997+1G>T phenoCommon odonto hypophosphatasia
ALPL_c.997+1G>T protEffect
ALPL_c.997+2T>A commonName
ALPL_c.997+2T>A phenoCommon perinatal hypophosphatasia
ALPL_c.997+2T>A protEffect
ALPL_c.997+2T>G commonName
ALPL_c.997+2T>G phenoCommon perinatal hypophosphatasia
ALPL_c.997+2T>G protEffect
ALPL_c.997+3A>C commonName
ALPL_c.997+3A>C phenoCommon perinatal hypophosphatasia
ALPL_c.997+3A>C protEffect
ALPL_c.997+3A>G commonName
ALPL_c.997+3A>G phenoCommon prenatal benign hypophosphatasia
ALPL_c.997+3A>G protEffect
ALPL_c.998-1G>T commonName
ALPL_c.998-1G>T phenoCommon perinatal hypophosphatasia
ALPL_c.998-1G>T protEffect
ALPL_c.1000G>C commonName G317R
ALPL_c.1000G>C phenoCommon odonto hypophosphatasia
ALPL_c.1000G>C protEffect p.G334R
ALPL_c.1001G>A commonName G317D
ALPL_c.1001G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1001G>A protEffect p.G334D
ALPL_c.1015G>A commonName G322R
ALPL_c.1015G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1015G>A protEffect p.G339R
ALPL_c.1015G>C commonName G322R
ALPL_c.1015G>C phenoCommon adult hypophosphatasia
ALPL_c.1015G>C protEffect p.G339R
ALPL_c.1016G>A commonName G322E
ALPL_c.1016G>A phenoCommon infantile hypophosphatasia
ALPL_c.1016G>A protEffect p.G339E
ALPL_c.1042G>A commonName A331T
ALPL_c.1042G>A phenoCommon infantile hypophosphatasia
ALPL_c.1042G>A protEffect p.A348T
ALPL_c.1044_1055del12 commonName L332_A335del
ALPL_c.1044_1055del12 phenoCommon perinatal hypophosphatasia
ALPL_c.1044_1055del12 protEffect p.L349_A352del
ALPL_c.1062G>C commonName E337D
ALPL_c.1062G>C phenoCommon perinatal hypophosphatasia
ALPL_c.1062G>C protEffect p.E354D
ALPL_c.1064T>C commonName M338T
ALPL_c.1064T>C phenoCommon perinatal hypophosphatasia
ALPL_c.1064T>C protEffect p.M355T
ALPL_c.1065G>A commonName M338I
ALPL_c.1065G>A phenoCommon infantile hypophosphatasia
ALPL_c.1065G>A protEffect p.M355I
ALPL_c.1068C>A commonName D339E
ALPL_c.1068C>A phenoCommon perinatal hypophosphatasia
ALPL_c.1068C>A protEffect p.D356E
ALPL_c.1101_1103delCTC commonName S351del
ALPL_c.1101_1103delCTC phenoCommon perinatal hypophosphatasia
ALPL_c.1101_1103delCTC protEffect p.S368del
ALPL_c.1112C>T commonName T354I
ALPL_c.1112C>T phenoCommon infantile hypophosphatasia
ALPL_c.1112C>T protEffect p.T371I
ALPL_c.1120G>A commonName V357M
ALPL_c.1120G>A phenoCommon adult hypophosphatasia
ALPL_c.1120G>A protEffect p.V374M
ALPL_c.1130C>T commonName A360V
ALPL_c.1130C>T phenoCommon perinatal hypophosphatasia
ALPL_c.1130C>T protEffect p.A377V
ALPL_c.1132G>T commonName D361Y
ALPL_c.1132G>T phenoCommon odonto. hypophosphatasia
ALPL_c.1132G>T protEffect p.D378Y
ALPL_c.1133A>T commonName D361V
ALPL_c.1133A>T phenoCommon infantile hypophosphatasia
ALPL_c.1133A>T protEffect p.D378V
ALPL_c.1142A>G commonName H364R
ALPL_c.1142A>G phenoCommon infantile hypophosphatasia
ALPL_c.1142A>G protEffect p.H381R
ALPL_c.1144G>A commonName V365I
ALPL_c.1144G>A phenoCommon childhood hypophosphatasia
ALPL_c.1144G>A protEffect p.V382I
ALPL_c.1162T>C commonName Y371H
ALPL_c.1162T>C phenoCommon odonto hypophosphatasia
ALPL_c.1162T>C protEffect p.Y388H
ALPL_c.1166C>T commonName T372I
ALPL_c.1166C>T phenoCommon perinatal hypophosphatasia
ALPL_c.1166C>T protEffect p.T389I
ALPL_c.1171C>T commonName R374C
ALPL_c.1171C>T phenoCommon childhood hypophosphatasia
ALPL_c.1171C>T protEffect p.R391C
ALPL_c.1172G>A commonName R374H
ALPL_c.1172G>A phenoCommon childhood hypophosphatasia
ALPL_c.1172G>A protEffect p.R391H
ALPL_c.1171delC commonName
ALPL_c.1171delC phenoCommon infantile hypophosphatasia
ALPL_c.1171delC protEffect p.R391VfsX12
ALPL_c.1175G>C commonName G375A
ALPL_c.1175G>C phenoCommon perinatal hypophosphatasia
ALPL_c.1175G>C protEffect p.G392A
ALPL_c.1181_1182delCT commonName frameshift
ALPL_c.1181_1182delCT phenoCommon prenatal benign hypophosphatasia
ALPL_c.1181_1182delCT protEffect frameshift
ALPL_c.1183A>G commonName I378V
ALPL_c.1183A>G phenoCommon prenatal benign hypophosphatasia
ALPL_c.1183A>G protEffect p.I395V
ALPL_c.1184T>C commonName I378T
ALPL_c.1184T>C phenoCommon perinatal hypophosphatasia
ALPL_c.1184T>C protEffect p.I395T
ALPL_c.1195G>T commonName A382S
ALPL_c.1195G>T phenoCommon adult hypophosphatasia
ALPL_c.1195G>T protEffect p.A399S
ALPL_c.1196C>T commonName A382V
ALPL_c.1196C>T phenoCommon adult hypophosphatasia
ALPL_c.1196C>T protEffect p.A399V
ALPL_c.1199C>T commonName P383L
ALPL_c.1199C>T phenoCommon infantile hypophosphatasia
ALPL_c.1199C>T protEffect p.P400L
ALPL_c.1214_1215delCA commonName
ALPL_c.1214_1215delCA phenoCommon adult hypophosphatasia
ALPL_c.1214_1215delCA protEffect p.T405RfsX22
ALPL_c.1216_1219delGACA commonName
ALPL_c.1216_1219delGACA phenoCommon perinatal hypophosphatasia
ALPL_c.1216_1219delGACA protEffect p.D406RfsX77
ALPL_c.1216G>A commonName D389N
ALPL_c.1216G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1216G>A protEffect p.D406N
ALPL_c.1217A>G commonName D389G
ALPL_c.1217A>G phenoCommon odonto. hypophosphatasia
ALPL_c.1217A>G protEffect p.D406G
ALPL_c.1228T>C commonName F393L
ALPL_c.1228T>C phenoCommon infantile hypophosphatasia
ALPL_c.1228T>C protEffect p.F410L
ALPL_c.1231A>G commonName T394A
ALPL_c.1231A>G phenoCommon perinatal hypophosphatasia
ALPL_c.1231A>G protEffect p.T411A
ALPL_c.1240C>A commonName L397M
ALPL_c.1240C>A phenoCommon perinatal hypophosphatasia
ALPL_c.1240C>A protEffect p.L414M
ALPL_c.1250A>G commonName N400S
ALPL_c.1250A>G phenoCommon perinatal hypophosphatasia
ALPL_c.1250A>G protEffect p.N417S
ALPL_c.1256delC commonName
ALPL_c.1256delC phenoCommon perinatal hypophosphatasia
ALPL_c.1256delC protEffect p.P419LfsX65
ALPL_c.1258G>A commonName G403S
ALPL_c.1258G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1258G>A protEffect p.G420S
ALPL_c.1259G>C commonName G403A
ALPL_c.1259G>C phenoCommon childhood hypophosphatasia
ALPL_c.1259G>C protEffect p.G420A
ALPL_c.1268T>C commonName V406A
ALPL_c.1268T>C phenoCommon perinatal hypophosphatasia
ALPL_c.1268T>C protEffect p.V423A
ALPL_c.1270G>A commonName V407M
ALPL_c.1270G>A phenoCommon adult hypophosphatasia
ALPL_c.1270G>A protEffect p.V424M
ALPL_c.1276G>T commonName G409C
ALPL_c.1276G>T phenoCommon infantile hypophosphatasia
ALPL_c.1276G>T protEffect p.G426C
ALPL_c.1276G>A commonName G409S
ALPL_c.1276G>A phenoCommon infantile hypophosphatasia
ALPL_c.1276G>A protEffect p.G426S
ALPL_c.1277G>A commonName G409D
ALPL_c.1277G>A phenoCommon childhood hypophosphatasia
ALPL_c.1277G>A protEffect p.G426D
ALPL_c.1282C>T commonName R411X
ALPL_c.1282C>T phenoCommon perinatal hypophosphatasia
ALPL_c.1282C>T protEffect p.R428X
ALPL_c.1283G>C commonName R411P
ALPL_c.1283G>C phenoCommon perinatal hypophosphatasia
ALPL_c.1283G>C protEffect p.R428P
ALPL_c.1283G>A commonName R411Q
ALPL_c.1283G>A phenoCommon prenatal benign hypophosphatasia
ALPL_c.1283G>A protEffect p.R428Q
ALPL_c.1283G>T commonName p.R411L
ALPL_c.1283G>T phenoCommon adult hypophosphatasia
ALPL_c.1283G>T protEffect p.R428L
ALPL_c.1285G>A commonName E412K
ALPL_c.1285G>A phenoCommon odonto. hypophosphatasia
ALPL_c.1285G>A protEffect p.E429K
ALPL_c.1306T>C commonName Y419H
ALPL_c.1306T>C phenoCommon childhood hypophosphatasia
ALPL_c.1306T>C protEffect p.Y436H
ALPL_c.1313A>T commonName H421L
ALPL_c.1313A>T phenoCommon infantile hypophosphatasia
ALPL_c.1313A>T protEffect p.H438L
ALPL_c.1328C>T commonName A426V
ALPL_c.1328C>T phenoCommon adult hypophosphatasia
ALPL_c.1328C>T protEffect p.A443V
ALPL_c.1333T>C commonName S428P
ALPL_c.1333T>C phenoCommon infantile hypophosphatasia
ALPL_c.1333T>C protEffect p.S445P
ALPL_c.1349G>A commonName R433H
ALPL_c.1349G>A phenoCommon odonto. hypophosphatasia
ALPL_c.1349G>A protEffect p.R450H
ALPL_c.1348C>T commonName R433C
ALPL_c.1348C>T phenoCommon infantile hypophosphatasia
ALPL_c.1348C>T protEffect p.R450C
ALPL_c.1354G>A commonName E435K
ALPL_c.1354G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1354G>A protEffect p.E452K
ALPL_c.1361A>G commonName H437R
ALPL_c.1361A>G phenoCommon childhood hypophosphatasia
ALPL_c.1361A>G protEffect p.H454R
ALPL_c.1363G>A commonName G438S
ALPL_c.1363G>A phenoCommon adult hypophosphatasia
ALPL_c.1363G>A protEffect p.G455S
ALPL_c.1364G>A commonName G438D
ALPL_c.1364G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1364G>A protEffect p.G455D
ALPL_c.1366G>T commonName G439W
ALPL_c.1366G>T phenoCommon childhood hypophosphatasia
ALPL_c.1366G>T protEffect p.G456W
ALPL_c.1366G>A commonName G439R
ALPL_c.1366G>A phenoCommon infantile hypophosphatasia
ALPL_c.1366G>A protEffect p.G456R
ALPL_c.1372G>A commonName D441N
ALPL_c.1372G>A phenoCommon adult hypophosphatasia
ALPL_c.1372G>A protEffect p.D458N
ALPL_c.1373A>G commonName D441G
ALPL_c.1373A>G phenoCommon infantile hypophosphatasia
ALPL_c.1373A>G protEffect p.D458G
ALPL_c.1375G>A commonName V442M
ALPL_c.1375G>A phenoCommon infantile hypophosphatasia
ALPL_c.1375G>A protEffect p.V459M
ALPL_c.1375G>T commonName V442L
ALPL_c.1375G>T phenoCommon perinatal hypophosphatasia
ALPL_c.1375G>T protEffect p.V459L
ALPL_c.1397C>T commonName P449L
ALPL_c.1397C>T phenoCommon perinatal hypophosphatasia
ALPL_c.1397C>T protEffect p.P466L
ALPL_c.1400T>C commonName M450T
ALPL_c.1400T>C phenoCommon infantile hypophosphatasia
ALPL_c.1400T>C protEffect p.M467T
ALPL_c.1402G>A commonName A451T
ALPL_c.1402G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1402G>A protEffect p.A468T
ALPL_c.1412_1429del18 commonName L454_E459del
ALPL_c.1412_1429del18 phenoCommon adult hypophosphatasia
ALPL_c.1412_1429del18 protEffect p.L471_E476del
ALPL_c.1414C>T commonName H455Y
ALPL_c.1414C>T phenoCommon perinatal hypophosphatasia
ALPL_c.1414C>T protEffect p.H472Y
ALPL_c.1417G>A commonName G456S
ALPL_c.1417G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1417G>A protEffect p.G473S
ALPL_c.1426G>A commonName E459K
ALPL_c.1426G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1426G>A protEffect p.E476K
ALPL_c.1427A>G commonName E459G
ALPL_c.1427A>G phenoCommon perinatal hypophosphatasia
ALPL_c.1427A>G protEffect p.E476G
ALPL_c.1427A>C commonName E459A
ALPL_c.1427A>C phenoCommon adult hypophosphatasia
ALPL_c.1427A>C protEffect p.E476A
ALPL_c.1433A>T commonName N461I
ALPL_c.1433A>T phenoCommon childhood hypophosphatasia
ALPL_c.1433A>T protEffect p.N478I
ALPL_c.1444_1445insC commonName
ALPL_c.1444_1445insC phenoCommon perinatal hypophosphatasia
ALPL_c.1444_1445insC protEffect p.H482Pfs
ALPL_c.1466G>C commonName C472S
ALPL_c.1466G>C phenoCommon perinatal hypophosphatasia
ALPL_c.1466G>C protEffect p.C489S
ALPL_c.1468A>T commonName I473F
ALPL_c.1468A>T phenoCommon adult hypophosphatasia
ALPL_c.1468A>T protEffect p.I490F
ALPL_c.1471G>A commonName G474R
ALPL_c.1471G>A phenoCommon perinatal hypophosphatasia
ALPL_c.1471G>A protEffect p.G491R
ALPL_c.1474delG commonName
ALPL_c.1474delG phenoCommon odonto hypophosphatasia
ALPL_c.1474delG protEffect p.A492PfsX29
ALPL_c.1553_1569del17 commonName
ALPL_c.1553_1569del17 phenoCommon perinatal hypophosphatasia
ALPL_c.1553_1569del17 protEffect p.Y518Ffs
ALPL_c.1559delT commonName
ALPL_c.1559delT phenoCommon infantile hypophosphatasia
ALPL_c.1559delT protEffect p.L520RfsX86
MMR_c.-42C>T commonName c.-42C>T
MMR_c.-28A>G commonName c.-28A>G
MMR_c.-28A>T commonName c.-28A>T
MMR_c.-7C>T commonName c.-7C>T
MMR_c.1-?_116+?del commonName c.1-?_116+?del
MMR_c.65G>C commonName c.65G>C
MMR_c.1-?_207+?del commonName c.1-?_207+?del
MMR_c.3G>A commonName c.3G>A
MMR_c.116G>A commonName c.116G>A
MMR_c.1-?_645+?dup commonName c.1-?_645+?dup
MMR_c.1-?_2271+?del commonName c.1-?_2271+?del
MMR_c.69A>T commonName c.69A>T
MMR_c.73A>T commonName c.73A>T
MMR_c.74T>C commonName c.74T>C
MMR_c.83C>T commonName c.83C>T
MMR_c.85G>T commonName c.85G>T
MMR_c.104T>G commonName c.104T>G
MMR_c.112A>G commonName c.112A>G
MMR_c.31delC commonName c.31delC
MMR_c.2T>G commonName c.2T>G
MMR_c.91_92delGCinsTG commonName c.91_92delGCinsTG
MMR_c.1-?_116+?dup commonName c.1-?_116+?dup
MMR_complex_1 commonName c.[67G>A (+) 70delG]
MMR_c.1-?_884+?del commonName c.1-?_884+?del
MMR_c.2T>A commonName c.2T>A
MMR_c.44dupT commonName c.44dupT
MMR_c.76delC commonName c.76delC
MMR_c.109G>T commonName c.109G>T
MMR_c.1-?_1558+?del commonName c.1-?_1558+?del
MMR_c.19_35delGTTATTCGGCGGCTGGA commonName c.19_35delGTTATTCGGCGGCTGGA
MMR_c.381-415_453+733del commonName c.381-415_453+733del
MMR_c.37delG commonName c.37delG
MMR_c.67delG commonName c.67delG
MMR_c.67G>T commonName c.67G>T
MMR_c.1-?_306+?del commonName c.1-?_306+?del
MMR_c.1-?_1731+?del commonName c.1-?_1731+?del
MMR_c.131C>T commonName c.131C>T
MMR_c.94A>G commonName c.94A>G
MMR_c.1-?_545+?del commonName c.1-?_545+?del
MMR_complex_2 commonName c.[1-?_1559+?del] + [1733A>G]
MMR_c.9delC commonName c.9delC
MMR_c.18_34del17 commonName c.18_34del17
MMR_c.38_39insCCCA commonName c.38_39insCCCA
MMR_c.52delC commonName c.52delC
MMR_c.55A>T commonName c.55A>T
MMR_c.61delG commonName c.61delG
MMR_c.62C>T commonName c.62C>T
MMR_c.73delA commonName c.73delA
MMR_c.76C>T commonName c.76C>T
MMR_c.86C>G commonName c.86C>G
MMR_c.101A>C commonName c.101A>C
MMR_c.104_105delTGinsAC commonName c.104_105delTGinsAC
MMR_c.102_103delGA commonName c.102_103delGA
MMR_c.106_107insAA commonName c.106_107insAA
MMR_c.112A>C commonName c.112A>C
MMR_complex_3 commonName c.[104T>G(+)596_597delAG]
MMR_complex_4 commonName c.[1-?_1731+?del; 1853A>G]
MMR_c.15_28del14 commonName c.15_28del14
MMR_c.1-73960_2271+46597del177663 commonName c.1-73960_2271+46597del177663
MMR_c.114C>G commonName c.114C>G
MMR_c.109G>A commonName c.109G>A
MMR_c.107T>A commonName c.107T>A
MMR_c.117-44_117-40delGAGTA commonName c.117-44_117-40delGAGTA
MMR_c.116+1G>A commonName c.116+1G>A
MMR_c.116+5G>C commonName c.116+5G>C
MMR_c.117-11T>A commonName c.117-11T>A
MMR_c.117-2A>T commonName c.117-2A>T
MMR_c.200G>A commonName c.200G>A
MMR_c.199G>T commonName c.199G>T
MMR_c.199G>A commonName c.199G>A
MMR_c.117-?_306+?dup commonName c.117-?_306+?dup
MMR_c.187G>A commonName c.187G>A
MMR_c.130T>G commonName c.130T>G
MMR_c.161G>A commonName c.161G>A
MMR_c.191A>G commonName c.191A>G
MMR_c.202A>G commonName c.202A>G
MMR_c.203T>A commonName c.203T>A
MMR_c.206G>A commonName c.206G>A
MMR_c.117-?_306+?del commonName c.117-?_306+?del
MMR_c.131_132insAATC commonName c.131_132insAATC
MMR_c.150dupT commonName c.150dupT
MMR_c.184C>T commonName c.184C>T
MMR_c.205delA commonName c.205delA
MMR_c.146T>A commonName c.146T>A
MMR_c.117-?_545+?del commonName c.117-?_545+?del
MMR_c.117-?_207+?del commonName c.117-?_207+?del
MMR_c.190_191delAA commonName c.190_191delAA
MMR_c.161delG commonName c.161delG
MMR_c.122A>G commonName c.122A>G
MMR_c.129delA commonName c.129delA
MMR_complex_5 commonName c.[131C>T(+)1321G>A]
MMR_complex_6 commonName c.[131C>T]+[1321G>A]
MMR_c.137G>T commonName c.137G>T
MMR_c.156dupA commonName c.156dupA
MMR_c.154A>T commonName c.154A>T
MMR_c.157G>T commonName c.157G>T
MMR_c.158A>C commonName c.158A>C
MMR_c.169A>T commonName c.169A>T
MMR_c.180G>A commonName c.180G>A
MMR_c.184C>A commonName c.184C>A
MMR_c.191dupA commonName c.191dupA
MMR_c.194G>A commonName c.194G>A
MMR_c.198C>T commonName c.198C>T
MMR_c.205A>G commonName c.205A>G
MMR_c.121G>C commonName c.121G>C
MMR_c.154_157delAAAG commonName c.154_157delAAAG
MMR_c.195delC commonName c.195delC
MMR_complex_7 commonName c.[137G>T(+)1151T>A]
MMR_c.207+571C>T commonName c.207+571C>T
MMR_c.208-2A>G commonName c.208-2A>G
MMR_c.208-1G>A commonName c.208-1G>A
MMR_c.207+1G>A commonName c.207+1G>A
MMR_c.207+1_207+2delGT commonName c.207+1_207+2delGT
MMR_c.208-3C>G commonName c.208-3C>G
MMR_c.208-2_209delAGAA commonName c.208-2_209delagAA
MMR_c.207+2T>C commonName c.207+2T>C
MMR_c.207+1G>T commonName c.207+1G>T
MMR_c.211G>T commonName c.211G>T
MMR_c.298C>T commonName c.298C>T
MMR_c.208-?_453-?del commonName c.208-?_453-?del
MMR_c.210_213delAGAA commonName c.210_213delAGAA
MMR_c.230G>A commonName c.230G>A
MMR_c.210A>C commonName c.210A>C
MMR_c.213_215delAGA commonName c.213_215delAGA
MMR_c.216T>C commonName c.216T>C
MMR_c.211G>C commonName c.211G>C
MMR_c.208-?_677+?del commonName c.208-?_677+?del
MMR_c.211_213delGAA commonName c.211_213delGAA
MMR_c.229T>C commonName c.229T>C
MMR_c.238T>G commonName c.238T>G
MMR_c.250A>G commonName c.250A>G
MMR_c.277A>G commonName c.277A>G
MMR_c.208-?_545+?del commonName c.208-?_545+?del
MMR_c.307-?_453+?del commonName c.307-?_453+?del
MMR_c.256C>T commonName c.256C>T
MMR_c.304G>A commonName c.304G>A
MMR_c.208-?_306+?dup commonName c.208-?_306+?dup
MMR_c.245C>T commonName c.245C>T
MMR_c.299G>C commonName c.299G>C
MMR_c.306G>T commonName c.306G>T
MMR_c.208-?_306+?del commonName c.208-?_306+?del
MMR_c.231T>A commonName c.231T>A
MMR_c.242C>T commonName c.242C>T
MMR_c.231_232delTG commonName c.231_232delTG
MMR_c.253C>T commonName c.253C>T
MMR_c.261C>T commonName c.261C>T
MMR_c.265G>T commonName c.265G>T
MMR_c.272T>A commonName c.272T>A
MMR_c.274G>C commonName c.274G>C
MMR_c.283T>G commonName c.283T>G
MMR_c.291T>A commonName c.291T>A
MMR_c.293_304delGCTTTCGAGGTG commonName c.293_304delGCTTTCGAGGTG
MMR_c.292G>A commonName c.292G>A
MMR_c.301G>A commonName c.301G>A
MMR_c.302G>A commonName c.302G>A
MMR_c.307-1403A>T commonName c.307-1403A>T
MMR_c.292G>C commonName c.292G>C
MMR_c.261delC commonName c.261delC
MMR_c.244dupA commonName c.244dupA
MMR_c.297T>A commonName c.297T>A
MMR_c.303T>G commonName c.303T>G
MMR_c.306+3A>C commonName c.306+3A>C
MMR_c.306+416A>C commonName c.306+416A>C
MMR_c.307-19A>G commonName c.307-19A>G
MMR_c.307-2A>C commonName c.307-2A>C
MMR_c.307-29C>A commonName c.307-29C>A
MMR_c.306+4A>G commonName c.306+4A>G
MMR_c.306+1G>A commonName c.306+1G>A
MMR_c.306+5G>A commonName c.306+5G>A
MMR_c.307-1G>C commonName c.307-1G>C
MMR_c.306+40G>A commonName c.306+40G>A
MMR_c.306+2dupT commonName c.306+2dupT
MMR_c.341delC commonName c.341delC
MMR_c.320T>G commonName c.320T>G
MMR_c.350C>G commonName c.350C>G
MMR_c.350C>T commonName c.350C>T
MMR_c.307-?_380+?del commonName c.307-?_380+?del
MMR_c.356_357insAA commonName c.356_357insAA
MMR_c.380G>A commonName c.380G>A
MMR_c.318C>G commonName c.318C>G
MMR_c.338T>A commonName c.338T>A
MMR_c.375A>G commonName c.375A>G
MMR_c.307-?_545+?del commonName c.307-?_545+?del
MMR_c.347C>G commonName c.347C>G
MMR_c.307-?_380+?dup commonName c.307-?_380+?dup
MMR_c.378C>G commonName c.378C>G
MMR_c.332C>T commonName c.332C>T
MMR_c.646-?_1076+?dup commonName c.646-?_1076+?dup
MMR_c.307-?_1038+?del commonName c.307-?_1038+?del
MMR_c.307-?_2271+?del commonName c.307-?_2271+?del
MMR_c.311T>A commonName c.311T>A
MMR_c.327T>G commonName c.327T>G
MMR_c.346delA commonName c.346delA
MMR_complex_8 commonName c.[350C>T; 790C>T]
MMR_c.354_355dupAA commonName c.354_355dupAA
MMR_c.367A>T commonName c.367A>T
MMR_c.378delC commonName c.378delC
MMR_c.347C>A commonName c.347C>A
MMR_c.376T>A commonName c.376T>A
MMR_c.346dupA commonName c.346dupA
MMR_c.359C>T commonName c.359C>T
MMR_c.377A>G commonName c.377A>G
MMR_c.307-797_677+1061del9557 commonName c.307-797_677+1061del9557
MMR_c.380+2T>A commonName c.380+2T>A
MMR_c.380+2T>C commonName c.380+2T>C
MMR_c.381-2A>G commonName c.381-2A>G
MMR_c.381-1G>A commonName c.381-1G>A
MMR_c.397G>T commonName c.397G>T
MMR_c.381-41A>G commonName c.381-41A>G
MMR_c.380+1G>A commonName c.380+1G>A
MMR_c.436C>T commonName c.436C>T
MMR_c.382G>C commonName c.382G>C
MMR_c.385_386delAGinsGTT commonName c.385_386delAGinsGTT
MMR_c.403C>G commonName c.403C>G
MMR_c.394G>C commonName c.394G>C
MMR_c.392C>A commonName c.392C>A
MMR_c.421C>G commonName c.421C>G
MMR_c.382delG commonName c.382delG
MMR_c.428dupC commonName c.428dupC
MMR_c.410C>T commonName c.410C>T
MMR_c.445C>T commonName c.445C>T
MMR_c.381-?_545+?del commonName c.381-?_545+?del
MMR_c.382_402delGCAAGTTACTCAGATGGAAAAinsT commonName c.382_402delGCAAGTTACTCAGATGGAAAAinsT
MMR_c.439G>C commonName c.439G>C
MMR_c.447G>C commonName c.447G>C
MMR_c.453+554C>T commonName c.453+554T>C
MMR_c.454-1G>A commonName c.454-1G>A
MMR_c.454-13A>G commonName c.454-13A>G
MMR_c.453+1G>T commonName c.453+1G>T
MMR_c.453+79A>G commonName c.453+79A>G
MMR_c.453+2T>C commonName c.453+2T>C
MMR_c.454-51T>C commonName c.454-51T>C
MMR_c.454-1G>C commonName c.454-1G>C
MMR_c.454-1G>T commonName c.454-1G>T
MMR_c.453+9G>A commonName c.453+9G>A
MMR_c.454-2A>G commonName c.454-2A>G
MMR_c.503dupA commonName c.503dupA
MMR_c.513delA commonName c.513delA
MMR_c.464T>G commonName c.464T>G
MMR_c.531_532delinsCT commonName c.531_532GG>CT
MMR_c.544A>G commonName c.544A>G
MMR_c.506C>T commonName c.506C>T
MMR_c.454-?_1409+?dup commonName c.454-?_1409+?dup
MMR_c.531_532delGGinsAT commonName c.531_532delGGinsAT
MMR_c.472A>C commonName c.472A>C
MMR_c.454-?_677+?dup commonName c.454-?_677+?dup
MMR_c.479C>T commonName c.479C>T
MMR_c.454-?_545+?del commonName c.454-?_545+?del
MMR_c.469delT commonName c.469delT
MMR_c.523_524insAG commonName c.523_524insAG
MMR_c.539T>G commonName c.539T>G
MMR_c.454-432_545+1885del commonName c.454-432_545+1885del
MMR_complex_9 commonName c.[454-432_545+1885del]+[474C>T]
MMR_c.474C>T commonName c.474C>T
MMR_c.655A>G commonName c.655A>G
MMR_c.488delG commonName c.488delG
MMR_c.497T>A commonName c.497T>A
MMR_c.502_503delAA commonName c.502_503delAA
MMR_c.498A>C commonName c.498A>C
MMR_c.468_469delTT commonName c.468_469delTT
MMR_c.546-2A>G commonName c.546-2A>G
MMR_c.546-2A>C commonName c.546-2A>C
MMR_c.545+3A>G commonName c.545+3A>G
MMR_c.545+43C>G commonName c.545+43C>G
MMR_c.546-32T>C commonName c.546-32T>C
MMR_c.545+72T>A commonName c.545+72T>A
MMR_c.545+80T>A commonName c.545+80T>A
MMR_c.545+1G>A commonName c.545+1G>A
MMR_c.578C>G commonName c.578C>G
MMR_c.546-?_884+?del commonName c.546-?_884+?del
MMR_c.554T>G commonName c.554T>G
MMR_c.546-?_790+?del commonName c.546-?_790+?del
MMR_c.546-?_677+?del commonName c.546-?_677+?del
MMR_c.1077-?_1276+?dup commonName c.1077-?_1276+?dup
MMR_c.1077-?_1386+?dup commonName c.1077-?_1386+?dup
MMR_c.577T>C commonName c.577T>C
MMR_c.545-?_1409+?dup commonName c.545-?_1409+?dup
MMR_c.553G>C commonName c.553G>C
MMR_c.558C>T commonName c.558C>T
MMR_c.586A>T commonName c.586A>T
MMR_c.588dupA commonName c.588dupA
MMR_c.588delA commonName c.588delA
MMR_c.572G>T commonName c.572G>T
MMR_c.589-2A>G commonName c.589-2A>G
MMR_c.588+5G>C commonName c.588+5G>C
MMR_c.588+3_588+6delAAGT commonName c.588+3_588+6delAAGT
MMR_c.589-10T>A commonName c.589-10T>A
MMR_c.588+5G>A commonName c.588+5G>A
MMR_complex_10 commonName c.[588+11G>C(+)790+5G>T]
MMR_c.589-15C>T commonName c.589-15T>C
MMR_c.589-7_589-10delTGTT commonName c.589-7_589-10delTGTT
MMR_c.588+1G>T commonName c.588+1G>T
MMR_c.589-5_589-8delTTTA commonName c.589-5_589-8delTTTA
MMR_c.588+1delG commonName c.588+1delG
MMR_c.676C>T commonName c.676C>T
MMR_c.637G>A commonName c.637G>A
MMR_c.649C>T commonName c.649C>T
MMR_c.655A>C commonName c.655A>C
MMR_c.677G>A commonName c.677G>A
MMR_c.677G>T commonName c.677G>T
MMR_c.674delG commonName c.674delG
MMR_c.454-?_677+?del commonName c.454-?_677+?del
MMR_c.637G>T commonName c.637G>T
MMR_c.665dupA commonName c.665dupA
MMR_c.595G>C commonName c.595G>C
MMR_c.597_598delGA commonName c.597_598delGA
MMR_c.607G>A commonName c.607G>A
MMR_c.632_633insT commonName c.632_633insT
MMR_c.649delC commonName c.649delC
MMR_c.665delA commonName c.665delA
MMR_c.673_676delAGTC commonName c.673_676delAGTC
MMR_c.644A>G commonName c.644A>G
MMR_c.647T>G commonName c.647T>G
MMR_complex_11 commonName c.[655A>G(+)677G>A]
MMR_c.596_597delAG commonName c.596_597delAG
MMR_complex_12 commonName c.[655A>G; 884+4A>G]
MMR_complex_13 commonName c.[655A>G(+)676C>T(+)2146G>A]
MMR_c.677+1G>T commonName c.677+1G>T
MMR_c.677+1G>A commonName c.677+1G>A
MMR_c.677+1delG commonName c.677+1delG
MMR_c.677+3A>C commonName c.677+3A>C
MMR_c.677+3A>G commonName c.677+3A>G
MMR_c.677+4dupT commonName c.677+4dupT
MMR_c.677+16delA commonName c.677+16delA
MMR_c.678-3_678-2delTA commonName c.678-3_678-2delTA
MMR_c.678-1G>C commonName c.678-1G>C
MMR_c.678-1G>T commonName c.678-1G>T
MMR_c.678-3T>A commonName c.678-3T>A
MMR_c.790+4A>G commonName c.790+4A>G
MMR_c.731G>A commonName c.731G>A
MMR_c.739T>C commonName c.739T>C
MMR_c.727_730delAATG commonName c.727_730delAATG
MMR_c.678-?_1558-?del commonName c.678-?_1558-?del
MMR_c.1387-?_1661+?dup commonName c.1387-?_1661+?dup
MMR_c.678-?_884+?del commonName c.678-?_884+?del
MMR_c.731G>T commonName c.731G>T
MMR_c.755C>A commonName c.755C>A
MMR_c.769delA commonName c.769delA
MMR_c.683dupT commonName c.683dupT
MMR_c.693T>C commonName c.693T>C
MMR_c.693delT commonName c.693delT
MMR_c.697T>C commonName c.697T>C
MMR_c.701A>G commonName c.701A>G
MMR_c.702G>A commonName c.702G>A
MMR_c.717C>A commonName c.717C>A
MMR_c.745dupG commonName c.745dupG
MMR_c.765G>A commonName c.765G>A
MMR_c.776T>C commonName c.776T>C
MMR_c.778C>T commonName c.778C>T
MMR_c.779T>G commonName c.779T>G
MMR_c.784_786delATC commonName c.784_786delATC
MMR_c.753C>T commonName c.753C>T
MMR_c.791-5T>G commonName c.791-5T>G
MMR_c.790+10A>G commonName c.790+10A>G
MMR_c.791-1406C>T commonName c.791-1406C>T
MMR_c.790+1G>A commonName c.790+1G>A
MMR_c.790+2T>A commonName c.790+2T>A
MMR_c.790+955C>A commonName c.790+955C>A
MMR_c.790+1G>C commonName c.790+1G>C
MMR_c.790+2dupT commonName c.790+2dupT
MMR_c.790+2T>C commonName c.790+2T>C
MMR_c.790+3A>T commonName c.790+3A>T
MMR_c.791-34G>A commonName c.791-34G>A
MMR_c.791-2A>G commonName c.791-2A>G
MMR_c.791-1G>C commonName c.791-1G>C
MMR_c.791-1G>T commonName c.791-1G>T
MMR_c.790+62G>A commonName c.790+62G>A
MMR_c.791-23delG commonName c.791-23delG
MMR_c.790+1delG commonName c.790+1delG
MMR_c.790+2_+3insT commonName c.790+2_+3insT
MMR_c.791_794delATCG commonName c.791_794delATCG
MMR_c.821_824dupAAGC commonName c.821_824dupAAGC
MMR_c.840T>A commonName c.840T>A
MMR_c.794G>A commonName c.794G>A
MMR_c.883A>G commonName c.883A>G
MMR_c.793C>T commonName c.793C>T
MMR_c.851T>A commonName c.851T>A
MMR_c.872delT commonName c.872delT
MMR_c.861C>T commonName c.861C>T
MMR_c.860dupA commonName c.860dupA
MMR_c.791-?_1558+?del commonName c.791-?_1558+?del
MMR_c.791-?_884+?del commonName c.791-?_884+?del
MMR_c.883_884+2delAGGT commonName c.883_884+2delAGGT
MMR_c.883A>C commonName c.883A>C
MMR_c.882C>T commonName c.882C>T
MMR_c.859_860delAA commonName c.859_860delAA
MMR_c.875T>C commonName c.875T>C
MMR_c.1038G>C commonName c.1038G>C
MMR_c.793C>A commonName c.793C>A
MMR_c.842C>T commonName c.842C>T
MMR_c.791A>G commonName c.791A>G
MMR_c.803A>G commonName c.803A>G
MMR_c.814T>G commonName c.814T>G
MMR_c.856A>C commonName c.856A>C
MMR_c.806C>G commonName c.806C>G
MMR_c.808_811delACTT commonName c.808_811delACTT
MMR_c.815T>C commonName c.815T>C
MMR_c.845C>G commonName c.845C>G
MMR_c.855C>T commonName c.855C>T
MMR_c.856_857insT commonName c.856_857insT
MMR_c.884G>A commonName c.884G>A
MMR_c.884G>C commonName c.884G>C
MMR_complex_14 commonName c.[794G>A(+)1989G>T]
MMR_c.884+4A>G commonName c.884+4A>G
MMR_c.885-24T>A commonName c.885-24T>A
MMR_c.885-5G>T commonName c.885-5G>T
MMR_c.884+3A>G commonName c.884+3A>G
MMR_c.885-16_885-15delCT commonName c.885-16_885-15delCT
MMR_c.885-2A>G commonName c.885-2A>G
MMR_c.884+2T>C commonName c.884+2T>C
MMR_c.1023delG commonName c.1023delG
MMR_c.954delC commonName c.954delC
MMR_c.977T>C commonName c.977T>C
MMR_c.986A>C commonName c.986A>C
MMR_c.988_990delATC commonName c.988_990delATC
MMR_c.885-?_1731+?del commonName c.885-?_1731+?del
MMR_c.987_989delCAT commonName c.987_989delCAT
MMR_c.927C>T commonName c.927C>T
MMR_c.1017delC commonName c.1017delC
MMR_c.885-?_1038+?del commonName c.885-?_1038+?del
MMR_c.1662-?_1759+?dup commonName c.1662-?_1759+?dup
MMR_c.911A>T commonName c.911A>T
MMR_c.885-597_1338+1120del commonName c.885-597_1338+1120del
MMR_c.885-?_2271+?del commonName c.885-?_2271+?del
MMR_c.887T>G commonName c.887T>G
MMR_c.887dupT commonName c.887dupT
MMR_c.888_889insTCCTGACAGTTT commonName c.888_889insTCCTGACAGTTT
MMR_c.889G>T commonName c.889G>T
MMR_c.901C>T commonName c.901C>T
MMR_c.921_922dupGC commonName c.921_922dupGC
MMR_c.935dupA commonName c.935dupA
MMR_c.939dupA commonName c.939dupA
MMR_c.955G>T commonName c.955G>T
MMR_c.962G>T commonName c.962G>T
MMR_c.971_979delAGCGGGTGC commonName c.971_979delAGCGGGTGC
MMR_c.974G>A commonName c.974G>A
MMR_c.994delA commonName c.994delA
MMR_c.1007delG commonName c.1007delG
MMR_c.1011delC commonName c.1011delC
MMR_c.1011dupC commonName c.1011dupC
MMR_c.1013A>G commonName c.1013A>G
MMR_c.1037A>G commonName c.1037A>G
MMR_c.1038G>A commonName c.1038G>A
MMR_c.925C>T commonName c.925C>T
MMR_c.888delA commonName c.888delA
MMR_c.985C>A commonName c.985C>A
MMR_c.960G>C commonName c.960G>C
MMR_c.1003C>T commonName c.1003C>T
MMR_c.1038G>T commonName c.1038G>T
MMR_c.908T>A commonName c.908T>A
MMR_c.949C>A commonName c.949C>A
MMR_c.955G>A commonName c.955G>A
MMR_c.1039-2A>T commonName c.1039-2A>T
MMR_c.1038+86T>C commonName c.1038+86T>C
MMR_c.1039-78A>G commonName c.1039-78A>G
MMR_c.1038+1G>C commonName c.1038+1G>C
MMR_c.1559-3171A>G commonName c.1559-3171A>G
MMR_c.1038+9G>A commonName c.1038+9G>A
MMR_c.1038+19C>T commonName c.1038+19C>T
MMR_c.1038+51C>T commonName c.1038+51C>T
MMR_c.1039-1G>A commonName c.1039-1G>A
MMR_c.1039-1G>C commonName c.1039-1G>C
MMR_c.1039-2A>G commonName c.1039-2A>G
MMR_c.1068_1075delTGGGGAGA commonName c.1068_1075delTGGGGAGA
MMR_c.1310delC commonName c.1310delC
MMR_c.1217G>A commonName c.1217G>A
MMR_c.1327A>C commonName c.1327A>C
MMR_c.1343delA commonName c.1343delA
MMR_c.1151T>A commonName c.1151T>A
MMR_c.1039-?_1409+?del commonName c.1039-?_1409+?del
MMR_c.1039-?_1558+?del commonName c.1039-?_1558+?del
MMR_c.1190delT commonName c.1190delT
MMR_c.1141C>T commonName c.1141C>T
MMR_c.1058C>T commonName c.1058C>T
MMR_c.1354delA commonName c.1354delA
MMR_c.1334delA commonName c.1334delA
MMR_c.1252_1253delGA commonName c.1252_1253delGA
MMR_c.1321G>A commonName c.1321G>A
MMR_c.1392T>C commonName c.1392T>C
MMR_c.1360G>C commonName c.1360G>C
MMR_c.1347_1368del22insTAAA commonName c.1347_1368del22insTAAA
MMR_c.1210_1211delCT commonName c.1210_1211delCT
MMR_c.1150delG commonName c.1150delG
MMR_c.1304C>T commonName c.1304C>T
MMR_c.1166G>A commonName c.1166G>A
MMR_c.1238C>T commonName c.1238C>T
MMR_c.1259C>G commonName c.1259C>G
MMR_c.1056T>A commonName c.1056T>A
MMR_c.1061delG commonName c.1061delG
MMR_c.1090A>G commonName c.1090A>G
MMR_c.1101delC commonName c.1101delC
MMR_c.1127_1128dupAT commonName c.1127_1128dupAT
MMR_c.1153C>T commonName c.1153C>T
MMR_c.1154G>C commonName c.1154G>C
MMR_c.1192C>T commonName c.1192C>T
MMR_c.1198C>G commonName c.1198C>G
MMR_c.1254T>G/A commonName c.1254T>G/A
MMR_c.1261delA commonName c.1261delA
MMR_c.1266C>T commonName c.1266C>T
MMR_c.1276C>T commonName c.1276C>T
MMR_c.1297G>C commonName c.1297G>C
MMR_c.1380_1381insT commonName c.1380_1381insT
MMR_c.1381A>T commonName c.1381A>T
MMR_c.1383G>T/C commonName c.1383G>T/C
MMR_c.1398delC commonName c.1398delC
MMR_c.1406C>T commonName c.1406C>T
MMR_c.1377dupA commonName c.1377dupA
MMR_c.1225C>T commonName c.1225C>T
MMR_c.1373T>A commonName c.1373T>A
MMR_c.1402A>G commonName c.1402A>G
MMR_c.1362dupG commonName c.1362dupG
MMR_c.1046dupT commonName c.1046dupT
MMR_c.1165C>T commonName c.1165C>T
MMR_c.1246A>G commonName c.1246A>G
MMR_c.1128T>C commonName c.1128T>C
MMR_c.1409+1G>A commonName c.1409+1G>A
MMR_c.1409+1G>C commonName c.1409+1G>C
MMR_c.1410-55G>T commonName c.1410-55G>T
MMR_c.1410-23G>T commonName c.1410-23G>T
MMR_c.1410-54C>T commonName c.1410-54C>T
MMR_c.1489dupC commonName c.1489dupC
MMR_c.1534G>T commonName c.1534G>T
MMR_c.1554dupT commonName c.1554dupT
MMR_c.1410-?_1558+?del commonName c.1410-?_1558+?del
MMR_c.1410_1413delAAAG commonName c.1410_1413delAAAG
MMR_c.1410-?_2271+?del commonName c.1410-?_2271+?del
MMR_c.1459C>T commonName c.1459C>T
MMR_c.1463delA commonName c.1463delA
MMR_c.1491delG commonName c.1491delG
MMR_c.1413_1416delGAGA commonName c.1413_1416delGAGA
MMR_c.1474G>A commonName c.1474G>A
MMR_c.1517T>C commonName c.1517T>C
MMR_c.1412dupA commonName c.1412dupA
MMR_c.1487C>G commonName c.1487C>G
MMR_c.1411_1414delAAGA commonName c.1411_1414delAAGA
MMR_c.1421G>A commonName c.1421G>A
MMR_c.1455T>A commonName c.1455T>A
MMR_c.1487C>T commonName c.1487C>T
MMR_c.1542dupT commonName c.1542dupT
MMR_c.1528C>T commonName c.1528C>T
MMR_c.1413G>A commonName c.1413G>A
MMR_c.1520dupT commonName c.1520dupT
MMR_c.1410-?_1731+?del commonName c.1410-?_1731+?del
MMR_c.1414dupA commonName c.1414dupA
MMR_c.1415G>T commonName c.1415G>T
MMR_c.1420delC commonName c.1420delC
MMR_c.1453G>C commonName c.1453G>C
MMR_c.1471delA commonName c.1471delA
MMR_c.1489delC commonName c.1489delC
MMR_c.1489_1490ins11 commonName c.1489_1490ins11
MMR_c.1497delG commonName c.1497delG
MMR_c.1499_1501delTCA commonName c.1499_1501delTCA
MMR_c.1543G>A commonName c.1543G>A
MMR_c.1549G>T commonName c.1549G>T
MMR_c.1415_1416delGA commonName c.1415_1416delGA
MMR_c.1525C>T commonName c.1525T>C
MMR_c.1420C>T commonName c.1420C>T
MMR_c.1558+14G>A commonName c.1558+14G>A
MMR_c.1559-3C>G commonName c.1559-3C>G
MMR_c.1558+4245A>G commonName c.1558+4245A>G
MMR_c.1558+2T>G commonName c.1558+2T>G
MMR_c.1558+1G>T commonName c.1558+1G>T
MMR_c.1558+2204A>C commonName c.1558+2204A>C
MMR_c.1558+?_1559-?del commonName c.1558+?_1559-?del
MMR_c.1558+11G>A commonName c.1558+11G>A
MMR_c.1558+13T>A commonName c.1558+13T>A
MMR_c.1559-9dupG commonName c.1559-9dupG
MMR_c.1559-2A>C commonName c.1559-2A>C
MMR_c.1559-2A>G commonName c.1559-2A>G
MMR_c.1559-2A>T commonName c.1559-2A>T
MMR_c.1559-1G>A commonName c.1559-1G>A
MMR_c.1559-1G>T commonName c.1559-1G>T
MMR_c.1558+58G>A commonName c.1558+58G>A
MMR_c.1559-1G>C commonName c.1559-1G>C
MMR_c.1558+17G>A commonName c.1558+17G>A
MMR_c.1561C>A commonName c.1561C>A
MMR_c.1609C>T commonName c.1609C>T
MMR_c.1622delC commonName c.1622delC
MMR_c.1640T>A commonName c.1640T>A
MMR_c.1649T>C commonName c.1649T>C
MMR_c.1652A>C commonName c.1652A>C
MMR_c.1666A>G commonName c.1666A>G
MMR_c.1625A>T commonName c.1625A>T
MMR_c.1559-?_1731+?del commonName c.1559-?_1731+?del
MMR_c.1569G>T commonName c.1569G>T
MMR_c.1591_1592delGT commonName c.1591_1592delGT
MMR_c.1646T>C commonName c.1646T>C
MMR_c.1559-?_1667+?del commonName c.1559-?_1667+?del
MMR_c.1559-?_2271+?del commonName c.1559-?_2271+?del
MMR_c.1565G>T commonName c.1565G>T
MMR_c.1564C>T commonName c.1564C>T
MMR_c.1573T>C commonName c.1573T>C
MMR_c.1573_1574delTT commonName c.1573_1574delTT
MMR_c.1576C>T commonName c.1576C>T
MMR_c.1596C>T commonName c.1596C>T
MMR_c.1620_1621delGG commonName c.1620_1621delGG
MMR_c.1625A>C commonName c.1625A>C
MMR_c.1630C>T commonName c.1630C>T
MMR_c.1644C>G commonName c.1644C>G
MMR_c.1658_1660delCCA commonName c.1658_1660delCCA
MMR_c.1664_1665insAAGT commonName c.1664_1665insAAGT
MMR_c.1667G>T commonName c.1667G>T
MMR_c.1624C>T commonName c.1624C>T
MMR_c.1633A>G commonName c.1633A>G
MMR_c.1656_1658delCAC commonName c.1656_1658delCAC
MMR_c.1614G>A commonName c.1614G>A
MMR_c.1616C>A commonName c.1616C>A
MMR_c.1668-19A>G commonName c.1668-19A>G
MMR_c.1668-885T>C commonName c.1668-885T>C
MMR_c.1668-3C>A commonName c.1668-3C>A
MMR_c.1668-3C>T commonName c.1668-3C>T
MMR_c.1668-1G>A commonName c.1668-1G>A
MMR_c.1731G>A commonName c.1731G>A
MMR_c.1672G>T commonName c.1672G>T
MMR_c.1676T>G commonName c.1676T>G
MMR_c.1669G>T commonName c.1669G>T
MMR_c.1668-?_1734+?del commonName c.1668-?_1734+?del
MMR_c.1683C>G commonName c.1683C>G
MMR_c.1721T>C commonName c.1721T>C
MMR_c.1725delG commonName c.1725delG
MMR_c.1684C>T commonName c.1684C>T
MMR_complex_15 commonName c.[1668-?_1734+?del; 1853A>G]
MMR_c.2459-?_2634+?dup commonName c.2459-?_2634+?dup
MMR_c.1693A>T commonName c.1693A>T
MMR_c.1733A>G commonName c.1733A>G
MMR_c.1744C>G commonName c.1744C>G
MMR_c.1668-?_1896+?del commonName c.1668-?_1896+?del
MMR_c.1689dupA commonName c.1689dupA
MMR_c.1717_1718delGT commonName c.1717_1718delGT
MMR_c.1711T>C commonName c.1711T>C
MMR_c.1681T>C commonName c.1681T>C
MMR_c.1702T>A commonName c.1702T>A
MMR_c.1690_1693delCTCA commonName c.1690_1693delCTCA
MMR_c.1731+5G>A commonName c.1731+5G>A
MMR_c.1731+3A>T commonName c.1731+3A>T
MMR_c.1732-2A>T commonName c.1732-2A>T
MMR_c.1731+1G>A commonName c.1731+1G>A
MMR_c.1731+1G>C commonName c.1731+1G>C
MMR_c1732-5T>C commonName c1732-5T>C
MMR_c.1732-1G>A commonName c.1732-1G>A
MMR_c.1732-20A>G commonName c.1732-20A>G
MMR_c.1731+2T>G commonName c.1731+2T>G
MMR_c.1732-9T>C commonName c.1732-9T>C
MMR_c.1783_1784delAG commonName c.1783_1784delAG
MMR_c.1852_1854delAAG commonName c.1852_1854delAAG
MMR_c.1852_1853delAAinsGC commonName c.1852_1853delAAinsGC
MMR_c.1778_1779delCA commonName c.1778_1779delCA
MMR_c.1766C>A commonName c.1766C>A
MMR_c.1835_1837delTTG commonName c.1835_1837delTTG
MMR_c.1732-?_1896+?del commonName c.1732-?_1896+?del
MMR_c.1742C>T commonName c.1742C>T
MMR_c.1790G>A commonName c.1790G>A
MMR_c.1831_1832delAT commonName c.1831_1832delAT
MMR_c.1732-?_2271+?del commonName c.1732-?_2271+?del
MMR_c.1851_1853delGAA commonName c.1851_1853delGAA
MMR_c.1757C>A commonName c.1757C>A
MMR_c.1855delG commonName c.1855delG
MMR_c.1769_1772delTAGA commonName c.1769_1772delTAGA
MMR_c.1758dupC commonName c.1758dupC
MMR_c.1884_1888delGGAAA commonName c.1884_1888delGGAAA
MMR_c.1853A>C commonName c.1853A>C
MMR_c.1852_1853delinsGC commonName c.1852_1853AA>GCc.1852_1853delAAinsGC
MMR_c.1749delT commonName c.1749delT
MMR_c.1834_1836delGTT commonName c.1834_1836delGTT
MMR_c.1878C>T commonName c.1878C>T
MMR_c.1756G>C commonName c.1756G>C
MMR_c.1763T>C commonName c.1763T>C
MMR_c.1808C>G commonName c.1808C>G
MMR_c.1820T>A commonName c.1820T>A
MMR_c.1865T>A commonName c.1865T>A
MMR_c.1865T>C commonName c.1865T>C
MMR_c.1875T>G commonName c.1875T>G
MMR_complex_16 commonName c.[1-?_1559+?del (+) 1733A>G]
MMR_c.1744C>T commonName c.1744C>T
MMR_c.1757_1758insT commonName c.1757_1758insT
MMR_c.1758delC commonName c.1758delC
MMR_c.1764delT commonName c.1764delT
MMR_c.1769delT commonName c.1769delT
MMR_c.1772_1775delATAG commonName c.1772_1775delATAG
MMR_c.1802A>G commonName c.1802A>G
MMR_c.1810A>T commonName c.1810A>T
MMR_c.1812dupA commonName c.1812dupA
MMR_c.1946_1948delCTT commonName c.1946_1948delCTT
MMR_c.1852A>G commonName c.1852A>G
MMR_c.1852A>T commonName c.1852A>T
MMR_complex_17 commonName c.[790+3A>T (+) c.1852_1853delAAinsGC]
MMR_complex_18 commonName c.[1852_1853delAAinsGC; 2146G>A]
MMR_c.1853A>G commonName c.1853A>G
MMR_c.1877delT commonName c.1877delT
MMR_complex_19 commonName c.[1877T>C (+) 1879T>A]
MMR_c.1877_1883delTCTCTTT commonName c.1877_1883delTCTCTTT
MMR_c.1892A>C commonName c.1892A>C
MMR_c.1896G>A commonName c.1896G>A
MMR_c.1896delG commonName c.1896delG
MMR_c.1745T>C commonName c.1745T>C
MMR_c.1879_1882delTCTT commonName c.1879_1882delTCTT
MMR_c.1846_1848delAAG commonName c.1846_1848delAAG
MMR_c.1799A>G commonName c.1799A>G
MMR_c.1759A>G commonName c.1759A>G
MMR_c.1788C>T commonName c.1788C>T
MMR_c.1823C>A commonName c.1823C>A
MMR_c.1754T>G commonName c.1754T>G
MMR_c.1855G>C commonName c.1855G>C
MMR_c.1896+1G>A commonName c.1896+1G>A
MMR_c.1896+1G>T commonName c.1896+1G>T
MMR_c.1896+1delG commonName c.1896+1delG
MMR_c.1896+2T>C commonName c.1896+2T>C
MMR_c.1896+36T>C commonName c.1896+36C>T
MMR_c.1897-2A>G commonName c.1897-2A>G
MMR_c.1897-1G>A commonName c.1897-1G>A
MMR_c.1975C>T commonName c.1975C>T
MMR_c.1976G>C commonName c.1976G>C
MMR_c.1937A>G commonName c.1937A>G
MMR_c.1943C>T commonName c.1943C>T
MMR_c.1942C>T commonName c.1942C>T
MMR_c.1961C>T commonName c.1961C>T
MMR_c.1976G>A commonName c.1976G>A
MMR_c.1946delC commonName c.1946delC
MMR_c.1918C>T commonName c.1918C>T
MMR_c.1963A>G commonName c.1963A>G
MMR_c.1897delG commonName c.1897delG
MMR_c.1964T>C commonName c.1964T>C
MMR_complex_20 commonName c.[1984A>C (+) 1653C>T (+) 1959G>T]
MMR_c.1986_1989+1delinsC commonName c.1986_1989+1TGAGG>C
MMR_c.1959G>T commonName c.1959G>T
MMR_c.1989G>T commonName c.1989G>T
MMR_c.1976_1977delGA commonName c.1976_1977delGA
MMR_c.1953_1956delGGGA commonName c.1953_1956delGGGA
MMR_c.1897-?_1989+?del commonName c.1897-?_1989+?del
MMR_c.1904A>G commonName c.1904A>G
MMR_c.1958T>G commonName c.1958T>G
MMR_c.1939G>A commonName c.1939G>A
MMR_c.1897-3_1904delCAGGAAGGGAA commonName c.1897-3_1904delCAGGAAGGGAA
MMR_c.1989G>A commonName c.1989G>A
MMR_c.1900G>A commonName c.1900G>A
MMR_c.1905C>G commonName c.1905C>G
MMR_c.1907T>C commonName c.1907T>C
MMR_c.1916T>G commonName c.1916T>G
MMR_c.1912G>T commonName c.1912G>T
MMR_c.1917A>G commonName c.1917A>G
MMR_c.1924_1925delCT commonName c.1924_1925delCT
MMR_c.1971delT commonName c.1971delT
MMR_c.1975_1976delCG commonName c.1975_1976delCG
MMR_complex_21 commonName c.[1976G>C (+) 2041G>A]
MMR_c.1976G>T commonName c.1976G>T
MMR_c.1984A>C commonName c.1984A>C
MMR_c.1988A>G commonName c.1988A>G
MMR_c.1919C>T commonName c.1919C>T
MMR_c.1967T>C commonName c.1967T>C
MMR_c.1988delA commonName c.1988delA
MMR_c.1988A>C commonName c.1988A>C
MMR_c.1990-121C>T commonName c.1990-121C>T
MMR_c.1989+5G>C commonName c.1989+5G>C
MMR_c.1989+1G>A commonName c.1989+1G>A
MMR_c.1989+7dupG commonName c.1989+7dupG
MMR_c.1990-16_1990-2del commonName c.1990-16_1990-2del
MMR_c.1990-3C>G commonName c.1990-3C>G
MMR_c.1990-2A>G commonName c.1990-2A>G
MMR_c.1990-1G>A commonName c.1990-1G>A
MMR_c.1989+1G>T commonName c.1989+1G>T
MMR_c.1990-1G>T commonName c.1990-1G>T
MMR_c.2009delA commonName c.2009delA
MMR_c.2067_2073delGTACATA commonName c.2067_2073delGTACATA
MMR_c.2092_2093delTC commonName c.2092_2093delTC
MMR_c.2103G>C commonName c.2103G>C
MMR_c.2059C>T commonName c.[2059C>T]+[2059C>T]
MMR_c.2041G>A commonName c.2041G>A
MMR_complex_22 commonName c.[2103G>C (+) 2210A>T]
MMR_c.2040C>A commonName c.2040C>A
MMR_c.2101C>T commonName c.2101C>T
MMR_c.2027T>G commonName c.2027T>G
MMR_c.2066A>G commonName c.2066A>G
MMR_c.2078_2172del commonName c.2078_2172del
MMR_c.2084C>A commonName c.2084C>A
MMR_c.2101C>A commonName c.2101C>A
MMR_c.2099_2102delAGCA commonName c.2099_2102delAGCA
MMR_c.1990-?_2271+?del commonName c.1990-?_2271+?del
MMR_c.1998G>A commonName c.1998G>A
MMR_c.2000dupA commonName c.2000dupA
MMR_c.2000A>G commonName c.2000A>G
MMR_c.2001C>T commonName c.2001C>T
MMR_c.2002G>A commonName c.2002G>A
MMR_c.2006_2010delAAAAG commonName c.2006_2010delAAAAG
MMR_c.2011G>T commonName c.2011G>T
MMR_c.2038T>G commonName c.2038T>G
MMR_c.2040C>T commonName c.2040C>T
MMR_c.2042C>T commonName c.2042C>T
MMR_c.2076_2077delTG commonName c.2076_2077delTG
MMR_c.2081_2082insT commonName c.2081_2082insT
MMR_c.2038T>C commonName c.2038T>C
MMR_c.2051A>G commonName c.2051A>G
MMR_c.1996T>C commonName c.1996T>C
MMR_c.2103+1G>A commonName c.2103+1G>A
MMR_c.2104-2A>T commonName c.2104-2A>T
MMR_c.2103+1G>T commonName c.2103+1G>T
MMR_c.2104-22T>G commonName c.2104-22T>G
MMR_c.2104-2A>G commonName c.2104-2A>G
MMR_c.2104-11G>A commonName c.2104-11G>A
MMR_c.2104-7T>G commonName c.2104-7T>G
MMR_c.2146G>A commonName c.2146G>A
MMR_c.2269dupT commonName c.2269dupT
MMR_c.2152C>T commonName c.2152C>T
MMR_c.2250C>G commonName c.2250C>G
MMR_c.2142G>A commonName c.2142G>A
MMR_c.2141G>A commonName c.2141G>A
MMR_c.2246T>C commonName c.2246T>C
MMR_c.2252A>G commonName c.2252A>G
MMR_c.2265G>C commonName c.2265G>C
MMR_c.2221_2224delCTGCins30 commonName c.2221_2224delCTGCins30
MMR_c.2224delC commonName c.2224delC
MMR_c.2223_2233delGCAGCTTGCTA commonName c.2223_2233delGCAGCTTGCTA
MMR_c.2161_2166dupTATAAA commonName c.2161_2166dupTATAAA
MMR_c.2179_2182delCACA commonName c.2179_2182delCACA
MMR_c.2194_2197dupAAAC commonName c.2194_2197dupAAAC
MMR_c.2104-?_2271+?dup commonName c.2104-?_2271+?dup
MMR_c.2136G>A commonName c.2136G>A
MMR_c.2210A>T commonName c.2210A>T
MMR_c.2263A>T commonName c.2263A>T
MMR_c.2252_2253dupAA commonName c.2252_2253dupAA
MMR_c.2190_2191insAACA commonName c.2190_2191insAACA
MMR_c.2135G>A commonName c.2135G>A
MMR_c.2185C>G commonName c.2185C>G
MMR_c.2195_2198dupAACA commonName c.2195_2198dupAACA
MMR_c.2262delG commonName c.2262delG
MMR_c.2104-?_2271+?del commonName c.2104-?_2271+?del
MMR_c.2104_2105delAG commonName c.2104_2105delAG
MMR_c.2154_2155delCA commonName c.2154_2155delCA
MMR_c.2154_2155dupCA commonName c.2154_2155dupCA
MMR_c.2155_2156insATGTGTTCCACA commonName c.2155_2156insATGTGTTCCACA
MMR_c.2163T>A commonName c.2163T>A
MMR_c.2170T>A commonName c.2170T>A
MMR_c.2173C>T commonName c.2173C>T
MMR_c.2179_2180delCA commonName c.2179_2180delCA
MMR_c.2194A>T commonName c.2194A>T
MMR_c.2252_2253delAA commonName c.2252_2253delAA
MMR_c.2271A>T commonName c.2271A>T
MMR_c.2246T>A commonName c.2246T>A
MMR_c.2134T>A commonName c.2134T>A
MMR_c.*35_*37delCTT commonName c.*35_*37delCTT
MMR_c.*30_*32delTTC commonName c.*30_*32delTTC
MMR_c.*32_*34delCTT commonName c.*32_*34delCTT
MMR_c.*137A>T commonName c.*137A>T
MMR_c.-118T>C commonName c.-118T>C
MMR_c.1-?_211+?del commonName c.1-?_211+?del
MMR_c.-433T>G commonName c.-433T>G
MMR_c.-78_-79delGT commonName c.-78_-79delGT
MMR_c.1-?_1386+?del commonName c.1-?_1386+?del
MMR_c.1-?_1661+?del commonName c.1-?_1661+?del
MMR_c.1-?_1759+?del commonName c.1-?_1759+?del
MMR_c.1-?_2364+?del commonName c.1-?_2364+?del
MMR_c.1-?_2805+?del commonName c.1-?_2805+?del
MMR_c.1A>T commonName c.1A>T
MMR_c.14C>A commonName c.14C>A
MMR_c.4_21dup commonName c.4_21dup
MMR_c.21dupG commonName c.21dupG
MMR_c.23C>T commonName c.23C>T
MMR_c.28C>T commonName c.28C>T
MMR_c.29dupA commonName c.29dupA
MMR_c.34dupG commonName c.34dupG
MMR_c.38G>T commonName c.38G>T
MMR_c.49G>T commonName c.49G>T
MMR_c.82G>T commonName c.82G>T
MMR_c.94_103delACCACAGTGC commonName c.94_103delACCACAGTGC
MMR_c.101T>A commonName c.101T>A
MMR_c.117G>A commonName c.117G>A
MMR_c.118G>A commonName c.118G>A
MMR_c.119delG commonName c.119delG
MMR_c.129T>G commonName c.129T>G
MMR_c.129T>A commonName c.129T>A
MMR_c.134C>T commonName c.134C>T
MMR_c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC commonName c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC
MMR_c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG commonName c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG
MMR_c.138C>G commonName c.138C>G
MMR_c.142G>T commonName c.142G>T
MMR_c.145delG commonName c.145delG
MMR_c.145_146delGA commonName c.145_146delGA
MMR_c.163delC commonName c.163delC
MMR_c.166delG commonName c.166delG
MMR_c.181C>T commonName c.181C>T
MMR_c.187delG commonName c.187delG
MMR_c.186_187dupGG commonName c.186_187dupGG
MMR_c.187dupG commonName c.187dupG
MMR_c.204delG commonName c.204delG
MMR_c.110delT commonName c.110delT
MMR_c.81delG commonName c.81delG
MMR_c.1-?_645+?del commonName c.1-?_645+?del
MMR_c.1-?_1076+?del commonName c.1-?_1076+?del
MMR_c.1-?_792+?del commonName c.1-?_792+?del
MMR_c.1-?_1276+?del commonName c.1-?_1276+?del
MMR_c.1-?_366+?del commonName c.1-?_366+?del
MMR_c.4G>A commonName c.4G>A
MMR_c.97A>C commonName c.97A>C
MMR_c.99A>C commonName c.99A>C
MMR_complex_23 commonName c.[1-?_1076+?del]+[454delA]
MMR_c.1-?_942+?del commonName c.1-?_942+?del
MMR_c.1-?_1077-66del commonName c.1-?_1077-66del
MMR_complex_24 commonName c.[1-?_1076+?del]+[367-?_645+?del]
MMR_c.97A>G commonName c.97A>G
MMR_c.128A>G commonName c.128A>G
MMR_c.1A>C commonName c.1A>C
MMR_c.54C>G commonName c.54C>G
MMR_c.146A>T commonName c.146A>T
MMR_c.154_155insG commonName c.154_155insG
MMR_complex_25 commonName c.[1-?_211+?del]+[1A>G]
MMR_c.1A>G commonName c.1A>G
MMR_c.169G>A commonName c.169G>A
MMR_c.1-35298_1276+5697del67745 commonName c.1-35298_1276+5697del67745
MMR_c.1277-?_1386+?del commonName c.1277-?_1386+?del
MMR_c.211+9C>G commonName c.211+9C>G
MMR_c.211+98T>C commonName c.211+98T>C
MMR_c.212-1G>A commonName c.212-1G>A
MMR_c.20delA commonName c.20delA
MMR_c.211+8C>G commonName c.211+8G>C
MMR_c.212-2A>G commonName c.212-2A>G
MMR_c.212-?_366+?del commonName c.212-?_366+?del
MMR_c.212-?_1076+?del commonName c.212-?_1076+?del
MMR_c.212-?_1276+?del commonName c.212-?_1276+?del
MMR_c.212-?_1386+?del commonName c.212-?_1386+?del
MMR_c.219G>A commonName c.219G>A
MMR_c.223_224delCT commonName c.223_224delCT
MMR_c.226C>T commonName c.226C>T
MMR_c.229_230delAG commonName c.229_230delAG
MMR_c.247dupA commonName c.247dupA
MMR_c.268_289dupAAAGATCTTCTTCTGGTTCGTC commonName c.268_289dupAAAGATCTTCTTCTGGTTCGTC
MMR_c.277C>T commonName c.277C>T
MMR_c.277_279delCTT commonName c.277_279delCTT
MMR_c.278T>C commonName c.278T>C
MMR_c.279_281delTCT commonName c.279_281delTCT
MMR_c.287G>A commonName c.287G>A
MMR_c.289C>T commonName c.289C>T
MMR_c.293A>G commonName c.293A>G
MMR_c.297_302delAGTTGA commonName c.297_302delAGTTGA
MMR_c.329A>G commonName c.329A>G
MMR_c.339G>A commonName c.339G>A
MMR_c.344delA commonName c.344delA
MMR_c.295A>C commonName c.295A>C
MMR_c.212-?_645+?del commonName c.212-?_645+?del
MMR_c.296delG commonName c.296delG
MMR_c.214-?_1076+?del commonName c.214-?_1076+?del
MMR_c.255dupT commonName c.255dupT
MMR_c.363T>G commonName c.363T>G
MMR_c.308A>G commonName c.308A>G
MMR_c.278_279delTT commonName c.278_279delTT
MMR_c.263_264delTT commonName c.263_264delTT
MMR_c.212-?_2458+?del commonName c.212-?_2458+?del
MMR_c.255_256delTG commonName c.255_256delTG
MMR_c.317G>A commonName c.317G>A
MMR_c.327T>C commonName c.327T>C
MMR_c.301G>T commonName c.301G>T
MMR_c.595T>C commonName c.595T>C
MMR_c.366+22delT commonName c.366+22delT
MMR_c.366+43G>A commonName c.366+43G>A
MMR_c.366+53A>G commonName c.366+53G>A
MMR_c.366+1G>T commonName c.366+1G>T
MMR_c.367-1G>A commonName c.367-1G>A
MMR_c.367-16delT commonName c.367-16delT
MMR_c.367-?_645+?del commonName c.367-?_645+?del
MMR_c.[1-?_1076+?del]+367-?_645+?del] commonName c.[1-?_1076+?del]+ 367-?_645+?del]
MMR_c.367-?_942+?del commonName c.367-?_942+?del
MMR_c.367-?_1386+?del commonName c.367-?_1386+?del
MMR_c.368delC commonName c.368delC
MMR_c.380_381delAT commonName c.380_381delAT
MMR_c.380A>G commonName c.380A>G
MMR_c.387_388delTC commonName c.387_388delTC
MMR_c.388_389delCA commonName c.388_389delCA
MMR_c.399C>T commonName c.399C>T
MMR_c.399delC commonName c.399delC
MMR_c.408delT commonName c.408delT
MMR_c.416delA commonName c.416delA
MMR_c.425C>G commonName c.425C>G
MMR_c.435T>G commonName c.435T>G
MMR_c.459C>T commonName c.459C>T
MMR_c.471C>A commonName c.471C>A
MMR_c.472C>T commonName c.472C>T
MMR_c.478C>T commonName c.478C>T
MMR_c.482T>A commonName c.482T>A
MMR_c.484G>A commonName c.484G>A
MMR_c.488T>A commonName c.488T>A
MMR_c.490G>T commonName c.490G>T
MMR_c.495T>G commonName c.495T>G
MMR_c.499G>C commonName c.499G>C
MMR_c.505A>G commonName c.505A>G
MMR_c.506_509delTACA commonName c.506_509delTACA
MMR_c.508C>T commonName c.508C>T
MMR_c.511_583dup commonName c.511_583dup
MMR_c.512G>A commonName c.512G>A
MMR_c.513delG commonName c.513delG
MMR_c.517_528delCTAGGACTGTGTinsA commonName c.517_528delCTAGGACTGTGTinsA
MMR_c.518delT commonName c.518delT
MMR_c.524T>C commonName c.524T>C
MMR_c.523_564del commonName c.523_564del
MMR_c.530_531delAA commonName c.530_531delAA
MMR_c.547C>T commonName c.547C>T
MMR_c.546_564dupTCAGTTCTCCAATCTTGAG commonName c.546_564dupTCAGTTCTCCAATCTTGAG
MMR_c.560T>G commonName c.560T>G
MMR_c.569_570delTCinsCT commonName c.569_570delTCinsCT
MMR_c.561_569delTGAGGCTCT commonName c.561_569delTGAGGCTCT
MMR_c.573C>T commonName c.573C>T
MMR_c.577C>T commonName c.577C>T
MMR_c.587delC commonName c.587delC
MMR_c.592dupG commonName c.592dupG
MMR_c.606C>T commonName c.606C>T
MMR_c.610G>T commonName c.610G>T
MMR_c.613G>T commonName c.613G>T
MMR_c.616dupA commonName c.616dupA
MMR_c.619G>T commonName c.619G>T
MMR_c.623delG commonName c.623delG
MMR_c.638_639delTG commonName c.638_639delTG
MMR_c.643C>T commonName c.643C>T
MMR_complex_26 commonName c.[643C>T]+[1571G>C]
MMR_c.367-?_1076+?del commonName c.367-?_1076+?del
MMR_c.529G>T commonName c.529G>T
MMR_c.367-?_1759+?del commonName c.367-?_1759+?del
MMR_complex_27 commonName c.[380A>G (+) 1264G>T]
MMR_c.490G>A commonName c.490G>A
MMR_c.518T>C commonName c.518T>C
MMR_c.583_584ins73 commonName c.583_584ins73
MMR_c.560T>C commonName c.560T>C
MMR_c.565G>T commonName c.565G>T
MMR_c.454delA commonName c.454delA
MMR_c.367-452_646-722del2051 commonName c.367-452_646-722del2051
MMR_c.593A>G commonName c.593A>G
MMR_c.518T>G commonName c.518T>G
MMR_c.485G>C commonName c.485G>C
MMR_c.347_350delATTG commonName c.347_350delATTG
MMR_c.367-?_1276+?del commonName c.367-?_1276+?del
MMR_c.642_645delACAG commonName c.642_645delACAG
MMR_c.551delT commonName c.551delT
MMR_c.596G>A commonName c.596G>A
MMR_c.529G>A commonName c.529G>A
MMR_complex_28 commonName c.[380A>T(+)1661+12G>A(+)2006-6T>C]
MMR_complex_29 commonName c.[505A>G(+)1661+12G>A(+)2006-6T>C]
MMR_c.645+1G>A commonName c.645+1G>A
MMR_c.646-3_654delTAGATAATTCAA commonName c.646-3_654deltaGATAATTCAA
MMR_c.646-3T>G commonName c.646-3T>G
MMR_c.645+1G>T commonName c.645+1G>T
MMR_c.646-?_792+?del commonName c.646-?_792+?del
MMR_c.646-?_1076+?del commonName c.646-?_1076+?del
MMR_c.646-?_1276+?del commonName c.646-?_1276+?del
MMR_c.792-?_1386+?del commonName c.792-?_1386+?del
MMR_c.646-?_2802+?del commonName c.646-?_2802+?del
MMR_c.646A>G commonName c.646A>G
MMR_c.650_654delTTCAA commonName c.650_654delTTCAA
MMR_c.687delA commonName c.687delA
MMR_c.687dupA commonName c.687dupA
MMR_c.696_697delTT commonName c.696_697delTT
MMR_c.704_705delAA commonName c.704_705delAA
MMR_c.711_714delTTAT commonName c.711_714delTTAT
MMR_c.715C>T commonName c.715C>T
MMR_c.717_721delGGACCinsTTA commonName c.717_721delGGACCinsTTA
MMR_c.735dupG commonName c.735dupG
MMR_c.736A>C commonName c.736A>C
MMR_c.746delA commonName c.746delA
MMR_c.754C>T commonName c.754C>T
MMR_c.759delG commonName c.759delG
MMR_c.763_766delAGTGinsTT commonName c.763_766delAGTGinsTT
MMR_c.782T>C commonName c.782T>C
MMR_c.788_789delAT commonName c.788_789delAT
MMR_c.728G>A commonName c.728G>A
MMR_complex_30 commonName c.[658G>T(+)1786_1788delAAT]
MMR_c.782delT commonName c.782delT
MMR_c.759_762delGAAT commonName c.759_762delGAAT
MMR_c.709A>G commonName c.709A>G
MMR_c.646-?_942+?del commonName c.646-?_942+?del
MMR_c.736A>T commonName c.736A>T
MMR_c.705delA commonName c.705delA
MMR_c.793-29A>T commonName c.793-29A>T
MMR_c.793-2A>C commonName c.793-2A>C
MMR_c.792+1G>A commonName c.792+1G>A
MMR_c.792+5A>G commonName c.792+5A>G
MMR_c.793-6_943+450del commonName c.793-6_943+450del
MMR_c.793-?_942+?del commonName c.793-?_942+?del
MMR_c.793-?_1076-?del commonName c.793-?_1076-?del
MMR_c.795delT commonName c.795delT
MMR_c.808_811delCTGT commonName c.808_811delCTGT
MMR_c.810_811delGT commonName c.810_811delGT
MMR_c.815C>T commonName c.815C>T
MMR_c.817_818delGTinsAA commonName c.817_818delGTinsAA
MMR_c.836_838delTCT commonName c.836_838delTCT
MMR_c.839dupT commonName c.839dupT
MMR_c.840delA commonName c.840delA
MMR_c.842C>G commonName c.842C>G
MMR_c.847G>T commonName c.847G>T
MMR_c.854delA commonName c.854delA
MMR_c.862C>T commonName c.862C>T
MMR_c.892C>T commonName c.892C>T
MMR_c.901A>T commonName c.901A>T
MMR_c.905T>A commonName c.905T>A
MMR_c.913G>A commonName c.913G>A
MMR_c.929T>C commonName c.929T>C
MMR_c.934delC commonName c.934delC
MMR_c.881_882delTT commonName c.881_882delTT
MMR_c.793-?_1076-?dup commonName c.793-?_1076-?dup
MMR_c.795T>C commonName c.795T>C
MMR_c.807dupA commonName c.807dupA
MMR_c.836delT commonName c.836delT
MMR_c.915_922dupAGCAGTCA commonName c.915_922dupAGCAGTCA
MMR_c.793-?_1386+?del commonName c.793-?_1386+?del
MMR_c.806C>T commonName c.806C>T
MMR_c.810_813delGTCT commonName c.810_813delGTCT
MMR_c.859G>T commonName c.859G>T
MMR_c.898_899dupAT commonName c.898_899dupAT
MMR_c.942+3A>T commonName c.942+3A>T
MMR_c.943-1G>C commonName c.943-1G>C
MMR_c.943-1G>A commonName c.943-1G>A
MMR_c.943-?_1076+?del commonName c.943-?_1076+?del
MMR_c.958dupA commonName c.958dupA
MMR_c.965G>A commonName c.965G>A
MMR_c.968C>G commonName c.968C>G
MMR_c.968C>A commonName c.968C>A
MMR_c.970_971delCA commonName c.970_971delCA
MMR_c.972G>A commonName c.972G>A
MMR_c.972_973ins184 commonName c.972_973ins184
MMR_c.973dupT commonName c.973dupT
MMR_c.984C>T commonName c.984C>T
MMR_c.989T>C commonName c.989T>C
MMR_c.997T>C commonName c.997T>C
MMR_c.1004C>T commonName c.1004C>T
MMR_c.1004_1007delCCCC commonName c.1004_1007delCCCC
MMR_c.1006C>T commonName c.1006C>T
MMR_c.1009C>T commonName c.1009C>T
MMR_c.1017_1018delAA commonName c.1017_1018delAA
MMR_c.1024G>A commonName c.1024G>A
MMR_c.1030C>T commonName c.1030C>T
MMR_c.1035G>A commonName c.1035G>A
MMR_c.1037_1038dupTT commonName c.1037_1038dupTT
MMR_c.1077A>T commonName c.1077A>T
MMR_c.1076G>T commonName c.1076G>T
MMR_c.998G>A commonName c.998G>A
MMR_c.1022T>C commonName c.1022T>C
MMR_c.970C>T commonName c.970C>T
MMR_c.1034G>A commonName c.1034G>A
MMR_c.1012G>A commonName c.1012G>A
MMR_c.991A>G commonName c.991A>G
MMR_c.1045C>G commonName c.1045C>G
MMR_c.1077-10T>C commonName c.1077-10T>C
MMR_c.1076+3400C>T commonName c.1076+3400C>T
MMR_c.1077-80G>A commonName c.1077-80G>A
MMR_c.1077-2037G>T commonName c.1077-2037G>T
MMR_c.1076+1G>T commonName c.1076+1G>T
MMR_c.1076+1G>A commonName c.1076+1G>A
MMR_c.1076+3A>T commonName c.1076+3A>T
MMR_c.1077-35A>G commonName c.1077-35G>A
MMR_c.1077-2A>C commonName c.1077-2A>C
MMR_c.1077-2A>G commonName c.1077-2A>G
MMR_c.1077-2A>T commonName c.1077-2A>T
MMR_c.1077-1G>C commonName c.1077-1G>C
MMR_c.1077-?_1276+?del commonName c.1077-?_1276+?del
MMR_c.1077-?_1386+?del commonName c.1077-?_1386+?del
MMR_c.1077-?_1661+?del commonName c.1077-?_1661+?del
MMR_c.1077-?_2005+?del commonName c.1077-?_2005+?del
MMR_c.1076-?_2805+?del commonName c.1076-?_2805+?del
MMR_c.1097_1098insA commonName c.1097_1098insA
MMR_c.1108delG commonName c.1108delG
MMR_c.1119delG commonName c.1119delG
MMR_c.1120C>T commonName c.1120C>T
MMR_c.1127_1128dupTA commonName c.1127_1128dupTA
MMR_c.1132_1134delAAG commonName c.1132_1134delAAG
MMR_c.1139delT commonName c.1139delT
MMR_c.1144dupC commonName c.1144dupC
MMR_c.1147C>T commonName c.1147C>T
MMR_c.1160T>C commonName c.1160T>C
MMR_c.1168C>T commonName c.1168C>T
MMR_c.1183C>T commonName c.1183C>T
MMR_c.1182dupT commonName c.1182dupT
MMR_c.1189C>T commonName c.1189C>T
MMR_c.1192dupG commonName c.1192dupG
MMR_c.1196_1197dupCA commonName c.1196_1197dupCA
MMR_c.1204C>T commonName c.1204C>T
MMR_c.1204delC commonName c.1204delC
MMR_c.1216C>T commonName c.1216C>T
MMR_c.1221C>T commonName c.1221C>T
MMR_c.1222dupT commonName c.1222dupT
MMR_c.1224T>C commonName c.1224T>C
MMR_c.1226_1227delAG commonName c.1226_1227delAG
MMR_c.1235_1267del commonName c.1235_1267del
MMR_c.1243_1246delCCTA commonName c.1243_1246delCCTA
MMR_c.1243del4 commonName c.1243del4
MMR_c.1249delG commonName c.1249delG
MMR_c.1255C>A commonName c.1255C>A
MMR_c.1255C>T commonName c.1255C>T
MMR_c.1269dupA commonName c.1269dupA
MMR_c.1275A>G commonName c.1275A>G
MMR_c.1264G>T commonName c.1264G>T
MMR_c.1215C>A commonName c.1215C>A
MMR_c.1222_1223insT commonName c.1222_1223insT
MMR_c.1215_1218dupCCGA commonName c.1215_1218dupCCGA
MMR_c.1129C>T commonName c.1129C>T
MMR_c.1223A>G commonName c.1223A>G
MMR_c.1086A>T commonName c.1086A>T
MMR_c.1261C>A commonName c.1261C>A
MMR_c.1203dupA commonName c.1203dupA
MMR_c.1216_1219dupCGAC commonName c.1216_1219dupCGAC
MMR_c.1387-?_1510+?del commonName c.1387-?_1510+?del
MMR_c.1225C>A commonName c.1225C>A
MMR_c.1145G>A commonName c.1145G>A
MMR_c.1277-1G>A commonName c.1277-1G>A
MMR_c.1277-5849T>C commonName c.1277-5849T>C
MMR_c.1277-945A>C commonName c.1277-945A>C
MMR_c.1277-212T>A commonName c.1277-212T>A
MMR_c.1277-118G>A commonName c.1277-118G>A
MMR_c.1276+6765G>A commonName c.1276+6765G>A
MMR_c.1277-2A>G commonName c.1277-2A>G
MMR_c.1276+1G>T commonName c.1276+1G>T
MMR_c.1276+47T>A commonName c.1276+47T>A
MMR_c.1277-14C>G commonName c.1277-14C>G
MMR_c.1277-10T>C commonName c.1277-10T>C
MMR_c.1277-1G>C commonName c.1277-1G>C
MMR_c.1276+2T>A commonName c.1276+2T>A
MMR_c.1276+1G>A commonName c.1276+1G>A
MMR_c.1277-2A>C commonName c.1277-2A>C
MMR_c.1277-?_2634+?del commonName c.1277-?_2634+?del
MMR_c.1277-?_2805+?inv commonName c.1277-?_2805+?inv
MMR_c.1277-?_2805+?del commonName c.1277-?_2805+?del
MMR_c.1285C>T commonName c.1285C>T
MMR_c.1287dupG commonName c.1287dupG
MMR_c.1288A>T commonName c.1288A>T
MMR_c.1292T>A commonName c.1292T>A
MMR_c.1315_1317delCCT commonName c.1315_1317delCCT
MMR_c.1316_1317delCT commonName c.1316_1317delCT
MMR_c.1340_1341insGG commonName c.1340_1341insGG
MMR_c.1339T>G commonName c.1339T>G
MMR_c.1345A>T commonName c.1345A>T
MMR_c.1352_1353delAG commonName c.1352_1353delAG
MMR_c.1358T>A commonName c.1358T>A
MMR_c.1373T>G commonName c.1373T>G
MMR_c.1277-?_1661+?del commonName c.1277-?_1661+?del
MMR_c.1277-?_1759+?del commonName c.1277-?_1759+?del
MMR_c.1319_1326delTTACTGATinsCC commonName c.1319_1326delTTACTGATinsCC
MMR_c.1321dupA commonName c.1321dupA
MMR_c.1356A>G commonName c.1356A>G
MMR_c.1354G>T commonName c.1354G>T
MMR_c.1345_1348delAAGT commonName c.1345_1348delAAGT
MMR_c.1387-250G>A commonName c.1387-250G>A
MMR_complex_31 commonName c.[1387-8G>T(+)1737A>G]
MMR_c.1387-1G>T commonName c.1387-1G>T
MMR_c.1387-8G>T commonName c.1387-8G>T
MMR_c.1386+1G>T commonName c.1386+1G>T
MMR_c.1386+73G>A commonName c.1386+73G>A
MMR_c.1386+1G>C commonName c.1386+1G>C
MMR_c.1386+1G>A commonName c.1386+1G>A
MMR_c.1387-?_1661+?del commonName c.1387-?_1661+?del
MMR_c.1387-?_2458+?del commonName c.1387-?_2458+?del
MMR_c.1387-?_2805+?del commonName c.1387-?_2805+?del
MMR_c.1408delG commonName c.1408delG
MMR_c.1418C>G commonName c.1418C>G
MMR_c.1418C>T commonName c.1418C>T
MMR_c.1442_1445dupTAAG commonName c.1442_1445dupTAAG
MMR_c.1444dupA commonName c.1444dupA
MMR_c.1444delA commonName c.1444delA
MMR_c.1452_1455delAATG commonName c.1452_1455delAATG
MMR_c.1457delA commonName c.1457delA
MMR_c.1476_1477delinsCT commonName c.1476_1477GC>CT
MMR_c.1477C>T commonName c.1477C>T
MMR_c.1497delA commonName c.1497delA
MMR_c.1510G>C commonName c.1510G>C
MMR_c.1494dupT commonName c.1494dupT
MMR_c.1387-3976_1662-364del11547 commonName c.1387-3976_1662-364del11547
MMR_c.1447_1448delGA commonName c.1447_1448delGA
MMR_c.1447G>T commonName c.1447G>T
MMR_complex_32 commonName c.[1487T>A(+)2240_2241delTA]
MMR_c.1487T>A commonName c.1487T>A
MMR_c.1409T>A commonName c.1409T>A
MMR_c.1488A>G commonName c.1488A>G
MMR_c.1445_1449delGAGAA commonName c.1445_1449delGAGAA
MMR_c.1511-9A>T commonName c.1511-9A>T
MMR_complex_33 commonName c.[1511-9A>T; 1661+12G>A]
MMR_c.1511-91G>T commonName c.1511-91G>T
MMR_c.1511-1516C>T commonName c.1511-1516C>T
MMR_c.1511-2A>G commonName c.1511-2A>G
MMR_c.1511-8T>G commonName c.1511-8G>T
MMR_c.1511-1G>T commonName c.1511-1G>T
MMR_c.1516G>T commonName c.1516G>T
MMR_c.1552C>T commonName c.1552C>T
MMR_c.1552_1553delCA commonName c.1552_1553delCA
MMR_c.1563T>C commonName c.1563T>C
MMR_c.1566C>G commonName c.1566C>G
MMR_c.1571G>C commonName c.1571G>C
MMR_c.1576delA commonName c.1576delA
MMR_c.1578delC commonName c.1578delC
MMR_c.1587delA commonName c.1587delA
MMR_c.1585delG commonName c.1585delG
MMR_c.1594dupG commonName c.1594dupG
MMR_c.1627delG commonName c.1627delG
MMR_c.1638_1639dupGA commonName c.1638_1639dupGA
MMR_c.1654A>C commonName c.1654A>C
MMR_c.1660A>C commonName c.1660A>C
MMR_c.1661G>C commonName c.1661G>C
MMR_complex_34 commonName c.[1661G>C (+) 1661+12G>A]
MMR_c.1642G>T commonName c.1642G>T
MMR_c.1511-?_2005+?del commonName c.1511-?_2005+?del
MMR_c.1661+12G>A commonName c.1661+12G>A
MMR_c.1569delT commonName c.1569delT
MMR_c.1600C>T commonName c.1600C>T
MMR_c.1660A>G commonName c.1660A>G
MMR_c.1593_1613delAGTCCTTCGTAACAATAAAAA commonName c.1593_1613 delAGTCCTTCGTAACAATAAAAA
MMR_c.1571G>T commonName c.1571G>T
MMR_c.1602T>A commonName c.1602T>A
MMR_c.1660A>T commonName c.1660A>T
MMR_c.1567T>A commonName c.1567T>A
MMR_c.1640A>G commonName c.1640A>G
MMR_c.1522G>A commonName c.1522G>A
MMR_c.1560A>G commonName c.1560A>G
MMR_c.1661+90T>C commonName c.1661+90T>C
MMR_complex_35 commonName c.[1661+12G>A]+ [1661+12G>A]
MMR_complex_36 commonName c.[1661+12G>A(+)2006-6T>C]
MMR_c.1661+1G>T commonName c.1661+1G>T
MMR_c.1662-1G>A commonName c.[1662-1G>A]+[1662-1G>A]
MMR_c.1662-2A>G commonName c.1662-2A>G
MMR_c.1661+1G>A commonName c.1661+1G>A
MMR_complex_37 commonName c.[1661+12G>A (+) 1661G>C]
MMR_c.1661+5G>C commonName c.1661+5G>C
MMR_c.1705_1706delGA commonName c.1705_1706delGA
MMR_c.1661+6C>T commonName c.1661+6T>C
MMR_c.1662-9G>A commonName c.1662-9A>G
MMR_c.1662-?_2458+?del commonName c.1662-?_2458+?del
MMR_c.1666T>C commonName c.1666T>C
MMR_c.1662-?_1759+?del commonName c.1662-?_1759+?del
MMR_c.1681G>A commonName c.1681G>A
MMR_c.1737A>G commonName c.1737A>G
MMR_c.1738G>T commonName c.1738G>T
MMR_c.1668delG commonName c.1668delG
MMR_c.1662-?_2805+?del commonName c.1662-?_2805+?del
MMR_c.1669A>C commonName c.1669A>C
MMR_c.1662-?_2805+?dup commonName c.1662-?_2805+?dup
MMR_c.1667_1668insA commonName c.1667_1668insA
MMR_c.1672delT commonName c.1672delT
MMR_c.1676delT commonName c.1676delT
MMR_c.1679delA commonName c.1679delA
MMR_c.1683delA commonName c.1683delA
MMR_c.1685A>T commonName c.1685A>T
MMR_c.1688A>C commonName c.1688A>C
MMR_c.1690A>G commonName c.1690A>G
MMR_c.1696_1697delAA commonName c.1696_1697delAA
MMR_c.1700_1704delAAACA commonName c.1700_1704delAAACA
MMR_c.1704_1705delAG commonName c.1704_1705delAG
MMR_c.1705_1706dupGA commonName c.1705_1706dupGA
MMR_c.1706_1707insT commonName c.1706_1707insT
MMR_c.1706_1707delAA commonName c.1706_1707delAA
MMR_c.1720C>T commonName c.1720C>T
MMR_c.1720delC commonName c.1720delC
MMR_c.1741dupA commonName c.1741dupA
MMR_c.1755T>C commonName c.1755T>C
MMR_c.1759G>C commonName c.1759G>C
MMR_c.1753delT commonName c.1753delT
MMR_c.1665delA commonName c.1665delA
MMR_c.1737dupA commonName c.1737dupA
MMR_c.1730T>C commonName c.1730T>C
MMR_c.1717delG commonName c.1717delG
MMR_c.1699A>T commonName c.1699A>T
MMR_c.1759+501A>G commonName c.1759+501A>G
MMR_complex_38 commonName c.[1760-62G>A; 1760-111_1760-109dupAGG]
MMR_c.2006-6T>C commonName c.2006-6T>C
MMR_c.2006-265A>G commonName c.2006-265A>G
MMR_c.1759+2T>A commonName c.1759+2T>A
MMR_c.1939G>T commonName c.1939G>T
MMR_c.1886A>G commonName c.1886A>G
MMR_c.1896_1897insA commonName c.1896_1897insA
MMR_c.1787A>G commonName c.1787A>G
MMR_c.1979_1980delAT commonName c.1979_1980delAT
MMR_c.1906G>C commonName c.1906G>C
MMR_c.1786_1788delAAT commonName c.1786_1788delAAT
MMR_c.1881A>C commonName c.1881A>C
MMR_c.1915C>T commonName c.1915C>T
MMR_c.1777C>T commonName c.1777C>T
MMR_c.1858_1859dupGT commonName c.1858_1859dupGT
MMR_c.1801C>T commonName c.1801C>T
MMR_c.1788_1789delTG commonName c.1788_1789delTG
MMR_c.1865C>T commonName c.1865C>T
MMR_c.1864C>A commonName c.1864C>A
MMR_c.1760-?_2005+?del commonName c.1760-?_2005+?del
MMR_c.1760-?_2802+?del commonName c.1760-?_2802+?del
MMR_c.1835C>G commonName c.1835C>G
MMR_c.1861C>T commonName c.1861C>T
MMR_c.1889_1892delGAAG commonName c.1889_1892delGAAG
MMR_c.1771_1772insA commonName c.1771_1772insA
MMR_c.1968C>G commonName c.1968C>G
MMR_c.1807G>A commonName c.1807G>A
MMR_c.1760-?_2210+?del commonName c.1760-?_2210+?del
MMR_c.1907C>T commonName c.1907C>T
MMR_c.2005G>A commonName c.2005G>A
MMR_c.1760-?_2634+?del commonName c.1760-?_2634+?del
MMR_c.1760delG commonName c.1760delG
MMR_c.1764T>G commonName c.1764T>G
MMR_c.1773dupA commonName c.1773dupA
MMR_c.1779_1782delGACA commonName c.1779_1782delGACA
MMR_c.1781_1782insCT commonName c.1781_1782insCT
MMR_c.1799C>T commonName c.1799C>T
MMR_c.1807G>T commonName c.1807G>T
MMR_c.1809delT commonName c.1809delT
MMR_c.1815_1817delTGT commonName c.1815_1817delTGT
MMR_c.1826C>T commonName c.1826C>T
MMR_c.1856A>G commonName c.1856A>G
MMR_c.1857T>G commonName c.1857T>G
MMR_c.1857_1858dupTG commonName c.1857_1858dupTG
MMR_c.1873T>G commonName c.1873T>G
MMR_c.1885C>T commonName c.1885C>T
MMR_complex_39 commonName c.[1915C>T; 2211-1G>T]
MMR_c.1921T>G commonName c.1921T>G
MMR_c.1983dupA commonName c.1983dupA
MMR_c.1985_1986delAG commonName c.1985_1986delAG
MMR_c.1986delG commonName c.1986delG
MMR_c.1987delA1988_1989dupTG commonName c.1987delA1988_1989dupTG
MMR_c.1996_1997delAT commonName c.1996_1997delAT
MMR_c.1828C>A commonName c.1828C>A
MMR_c.1912A>G commonName c.1912A>G
MMR_c.1933C>G commonName c.1933C>G
MMR_c.1917T>A commonName c.1917T>A
MMR_c.1955C>A commonName c.1955C>A
MMR_c.1853delC commonName c.1853delC
MMR_c.1911delC commonName c.1911delC
MMR_c.1808A>G commonName c.1808A>G
MMR_c.2005+1G>T commonName c.2005+1G>T
MMR_c.2005+2T>C commonName c.2005+2T>C
MMR_c.2006-6T>G commonName c.2006-6T>G
MMR_c.2006-1G>C commonName c.2006-1G>C
MMR_c.2005+25T>G commonName c.2005+25T>G
MMR_c.2006-5T>A commonName c.[2006-5T>A]+[2006-5T>A]
MMR_c.2006-2A>G commonName c.2006-2A>G
MMR_complex_40 commonName c.[2006-5T>A; 2006-6T>A]+[2006-5T>A; 2006-6T>A]
MMR_c.2005+8dupA commonName c.2005+8dupA
MMR_c.2044A>G commonName c.2044A>G
MMR_c.2038C>T commonName c.2038C>T
MMR_c.2160_2163delAGGA commonName c.2160_2163delAGGA
MMR_c.2089T>C commonName c.2089T>C
MMR_c.2194_2196delACT commonName c.2194_2196delACT
MMR_c.2239_2240delAT commonName c.2239_2240delAT
MMR_c.2031_2032delAT commonName c.2031_2032delAT
MMR_c.2090G>T commonName c.2090G>T
MMR_c.2123T>A commonName c.2123T>A
MMR_c.2063T>G commonName c.2063T>G
MMR_c.2006G>A commonName c.2006G>A
MMR_c.2131C>T commonName c.2131C>T
MMR_c.2071dupA commonName c.2071dupA
MMR_c.2191G>T commonName c.2191G>T
MMR_c.2113delG commonName c.2113delG
MMR_c.2026T>C commonName c.2026T>C
MMR_c.2020G>A commonName c.2020G>A
MMR_c.2006-?_2634+?del commonName c.2006-?_2634+?del
MMR_c.2006-?_2210+?del commonName c.2006-?_2210+?del
MMR_c.2010delC commonName c.2010delC
MMR_c.2011A>T commonName c.2011A>T
MMR_c.2015delT commonName c.2015delT
MMR_c.2018delG commonName c.2018delG
MMR_c.2024A>G commonName c.2024A>G
MMR_c.2053_2056dupATAG commonName c.2053_2056dupATAG
MMR_c.2061C>G commonName c.2061C>G
MMR_c.2064G>A commonName c.2064G>A
MMR_c.2074G>C commonName c.2074G>C
MMR_c.2075G>T commonName c.2075G>T
MMR_c.2080T>C commonName c.2080T>C
MMR_c.2082delT commonName c.2082delT
MMR_c.2091T>A commonName c.2091T>A
MMR_c.2135dupT commonName c.2135dupT
MMR_c.2139G>C commonName c.2139G>C
MMR_c.2141dupC commonName c.2141dupC
MMR_c.2141C>T commonName c.2141C>T
MMR_c.2154A>G commonName c.2154A>G
MMR_c.2168C>T commonName c.2168C>T
MMR_c.2171C>A commonName c.2171C>A
MMR_c.2204delT commonName c.2204delT
MMR_c.2087C>T commonName c.2087C>T
MMR_c.2047G>A commonName c.2047G>A
MMR_c.2021G>C commonName c.2021G>C
MMR_c.2210G>C commonName c.2210G>C
MMR_c.2020G>C commonName c.2020G>C
MMR_c.2009C>T commonName c.2009C>T
MMR_c.893A>C commonName c.893A>C
MMR_c.2108C>A commonName c.2108C>A
MMR_c.2021_2022delGT commonName c.2021_2022delGT
MMR_c.2210+274T>G commonName c.2210+274T>G
MMR_c.2210+317G>C commonName c.2210+317G>C
MMR_c.2211-2A>C commonName c.2211-2A>C
MMR_c.2210+1G>A commonName c.2210+1G>A
MMR_c.2211-2A>G commonName c.2211-2A>G
MMR_c.2211-6C>T commonName c.2211-6T>C
MMR_c.2210+1G>C commonName c.2210+1G>C
MMR_c.2210+8dupC commonName c.2210+8dupC
MMR_c.2210+77T>C commonName c.2210+77T>C
MMR_c.2211-10T>A commonName c.2211-10T>A
MMR_c.2245G>A commonName c.2245G>A
MMR_c.2245G>T commonName c.2245G>T
MMR_c.2427dupG commonName c.2427dupG
MMR_c.2305delT commonName c.2305delT
MMR_c.2388delT commonName c.2388delT
MMR_c.2422G>T commonName c.2422G>T
MMR_c.2347delC commonName c.2347delC
MMR_c.2292G>A commonName c.2292G>A
MMR_c.2363_2364delCT commonName c.2363_2364delCT
MMR_c.2231T>G commonName c.2231T>G
MMR_c.2362dupA commonName c.2362dupA
MMR_c.2237_2238insA commonName c.2237_2238insA
MMR_c.2228_2231delCATT commonName c.2228_2231delCATT
MMR_c.2407A>G commonName c.2407A>G
MMR_c.2228C>A commonName c.2228C>A
MMR_c.2228C>G commonName c.2228C>G
MMR_c.2251G>A commonName c.2251G>A
MMR_c.2275G>T commonName c.2275G>T
MMR_c.2290delT commonName c.2290delT
MMR_c.2293G>A commonName c.2293G>A
MMR_c.2294delC commonName c.2294delC
MMR_c.2295delT commonName c.2295delT
MMR_c.2308A>G commonName c.2308A>G
MMR_c.2334C>A commonName c.2334C>A
MMR_c.2335dupA commonName c.2335dupA
MMR_c.2360_2361dupTT commonName c.2360_2361dupTT
MMR_c.2408_2409delCA commonName c.2408_2409delCA
MMR_c.2432T>G commonName c.2432T>G
MMR_c.2437A>G commonName c.2437A>G
MMR_c.2446C>T commonName c.2446C>T
MMR_c.2211-?_2458+?del commonName c.2211-?_2458+?del
MMR_c.2242G>T commonName c.2242G>T
MMR_c.2233_2238delATAATC commonName c.2233_2238delATAATC
MMR_c.2235_2237dupAAT commonName c.2235_2237dupAAT
MMR_c.2261delC commonName c.2261delC
MMR_c.2337G>A commonName c.2337G>A
MMR_c.2420C>G commonName c.2420C>G
MMR_c.2211-?_2634+?del commonName c.2211-?_2634+?del
MMR_c.2458+1G>A commonName c.2458+1G>A
MMR_c.2459-2A>C commonName c.2459-2A>C
MMR_c.2459-12A>G commonName c.2459-12A>G
MMR_c.2500G>A commonName c.2500G>A
MMR_c.2459-?_2805+?del commonName c.2459-?_2805+?del
MMR_c.2516A>G commonName c.2516A>G
MMR_c.2620_2621ins115 commonName c.2620_2621ins115
MMR_c.2466T>A commonName c.2466T>A
MMR_c.2632_2633delGA commonName c.2632_2633delGA
MMR_c.2459-?_2634+?del commonName c.2459-?_2634+?del
MMR_c.2466_2467delTG commonName c.2466_2467delTG
MMR_c.2470C>G commonName c.2470C>G
MMR_c.2470C>T commonName c.2470C>T
MMR_c.2479G>A commonName c.2479G>A
MMR_c.2485delC commonName c.2485delC
MMR_c.2501_2507delCTAATTT commonName c.2501_2507delCTAATTT
MMR_c.2502_2508delTAATTTC commonName c.2502_2508delTAATTTC
MMR_c.2507delT commonName c.2507delT
MMR_c.2533A>G commonName c.2533A>G
MMR_c.2536C>T commonName c.2536C>T
MMR_c.2558A>C commonName c.2558A>C
MMR_c.2575G>T commonName c.2575G>T
MMR_c.2579C>A commonName c.2579C>A
MMR_c.2579C>T commonName c.2579C>T
MMR_c.2581C>T commonName c.2581C>T
MMR_c.2602C>G commonName c.2602C>G
MMR_c.2609C>G commonName c.2609C>G
MMR_c.2617T>G commonName c.2617T>G
MMR_c.2633_2634delAG commonName c.2633_2634delAG
MMR_c.2634G>C commonName c.2634G>C
MMR_c.2583A>G commonName c.2583A>G
MMR_c.2529_2530delTG commonName c.2529_2530delTG
MMR_c.2503A>C commonName c.2503A>C
MMR_c.2551C>A commonName c.2551C>A
MMR_c.2517T>A commonName c.2517T>A
MMR_c.2634+5G>T commonName c.2634+5G>T
MMR_complex_41 commonName c.[2635-3C>T(+)2635-5T>C]
MMR_c.2634+5G>C commonName c.2634+5G>C
MMR_c.2635-214T>C commonName c.2635-214T>C
MMR_c.2634+1G>A commonName c.2634+1G>A
MMR_c.2634+1G>T commonName c.2634+1G>T
MMR_c.2635-1G>T commonName c.2635-1G>T
MMR_c.2635-3_2635-5delTTCinsCTT commonName c.2635-3_2635-5delTTCinsCTT
MMR_c.2634+30delT commonName c.2634+30delT
MMR_c.2766T>C commonName c.2766T>C
MMR_c.2651T>G commonName c.2651T>G
MMR_c.2647delA commonName c.2647delA
MMR_c.2629-?_2805+?del commonName c.2629-?_2805+?del
MMR_c.2635C>T commonName c.2635C>T
MMR_c.2647dupA commonName c.2647dupA
MMR_c.2653C>T commonName c.2653C>T
MMR_c.2657A>G commonName c.2657A>G
MMR_c.2662delC commonName c.2662delC
MMR_c.2663T>G commonName c.2663T>G
MMR_c.2714C>G commonName c.2714C>G
MMR_c.2768T>A commonName c.2768T>A
MMR_c.2792A>C commonName c.2792A>C
MMR_c.2802G>C commonName c.2802G>C
MMR_c.2732T>G commonName c.2732T>G
MMR_c.2740G>T commonName c.2740G>T
MMR_c.1-?_457-?del commonName c.1-?_457-?del
MMR_c.-210C>T commonName c.-210C>T
MMR_c.-18G>T commonName c.-18G>T
MMR_c.186C>A commonName c.186C>A
MMR_c.59C>T commonName c.59C>T
MMR_c.62A>G commonName c.62A>G
MMR_c.73G>T commonName c.73G>T
MMR_c.1-?_4083+?del commonName c.1-?_4083+?del
MMR_c.38A>C commonName c.38A>C
MMR_c.194C>T commonName c.194C>T
MMR_c.1-?_457+?del commonName c.1-?_457+?del
MMR_c.108T>G commonName c.108T>G
MMR_c.161G>C commonName c.161G>C
MMR_c.260+22C>G commonName c.260+22C>G
MMR_c.261-36A>G commonName c.261-36A>G
MMR_c.260+25A>C commonName c.260+25A>C
MMR_c.260+43G>A commonName c.260+43G>A
MMR_c.260+96A>C commonName c.260+96A>C
MMR_c.260+101C>A commonName c.260+101C>A
MMR_c.260+131C>A commonName c.260+131C>A
MMR_c.260+2214C>T commonName c.260+2214C>T
MMR_c.261-1170G>T commonName c.261-1170G>T
MMR_c.2467A>G commonName c.2467A>G
MMR_c.440T>A commonName c.440T>A
MMR_c.431G>T commonName c.431G>T
MMR_c.276A>G commonName c.276A>G
MMR_c.426G>A commonName c.426G>A
MMR_c.383G>T commonName c.383G>T
MMR_c.261-?_457+?dup commonName c.261-?_457+?dup
MMR_c.297G>T commonName c.297G>T
MMR_c.384delT commonName c.384delT
MMR_c.457+52T>A commonName c.457+52T>A
MMR_c.458-52G>T commonName c.458-52G>T
MMR_c.457+14C>G commonName c.457+14C>G
MMR_c.457+63_457+64delGA commonName c.457+63_457+64delGA
MMR_complex_42 commonName c.[642C>G]+[458-1G>A]
MMR_c.458-1G>A commonName c.458-1G>A
MMR_c.457+13A>G commonName c.457+13A>G
MMR_c.457+1223T>C commonName c.457+1223T>C
MMR_c.457+2T>A commonName c.457+2T>A
MMR_c.457+394T>C commonName c.457+394T>C
MMR_c.540T>C commonName c.540T>C
MMR_complex_43 commonName c.[560A>C(+)794T>G]
MMR_c.522_523delAG commonName c.522_523delAG
MMR_complex_44 commonName c.[603G>A(+)1186C>G]
MMR_c.467C>G commonName c.467C>G
MMR_c.583G>T commonName c.583G>T
MMR_c.483G>A commonName c.483G>A
MMR_c.599C>A commonName c.599C>A
MMR_c.628-56C>T commonName c.628-56C>T
MMR_c.628-54T>C commonName c.628-54T>C
MMR_c.627+1200T>C commonName c.627+1200T>C
MMR_c.628-874C>T commonName c.628-874C>T
MMR_c.1186C>G commonName c.1186C>G
MMR_c.1867C>G commonName c.1867C>G
MMR_c.2633T>C commonName c.2633T>C
MMR_c.2656A>G commonName c.2656A>G
MMR_c.2425delG commonName c.[2425delG]+[2425delG]
MMR_complex_45 commonName c.[3020G>A(+)3607_3610delCATG]
MMR_c.642C>G commonName c.642C>G
MMR_c.741delA commonName c.741delA
MMR_c.2314C>T commonName c.2314C>T
MMR_c.2503C>T commonName c.2503C>T
MMR_c.2176_2177delinsAG commonName c.2176_2177TT>AG
MMR_c.1403G>A commonName c.1403G>A
MMR_c.1508C>G commonName c.1508C>G
MMR_c.1739C>T commonName c.1739C>T
MMR_c.2984delA commonName c.2984delA
MMR_c.3119_3120delTT commonName c.3119_3120delTT
MMR_c.1153_1155delAGG commonName c.1153_1155delAGG
MMR_complex_46 commonName c.[1453C>T(+)3907G>A]
MMR_c.1787delT commonName c.1787delT
MMR_c.718C>T commonName c.718C>T
MMR_c.1771C>T commonName c.1771C>T
MMR_c.1477G>T commonName c.1477G>T
MMR_c.663A>C commonName c.663A>C
MMR_complex_47 commonName c.[866G>A(+)867C>A]
MMR_c.642C>A commonName c.642C>A
MMR_c.755C>G commonName c.755C>G
MMR_c.3103C>T commonName c.3103C>T
MMR_c.651dupT commonName c.651dupT
MMR_c.1614_1615delTCinsAG commonName c.1614_1615delTCinsAG
MMR_c.1784delT commonName c.1784delT
MMR_c.2719_2720delGT commonName c.2719_2720delGT
MMR_c.884A>G commonName c.884A>G
MMR_c.1369G>C commonName c.1369G>C
MMR_c.1474A>G commonName c.1474A>G
MMR_c.1830G>T commonName c.1830G>T
MMR_c.2092C>A commonName c.2092C>A
MMR_c.2491C>G commonName c.2491C>G
MMR_c.3076G>T commonName c.3076G>T
MMR_c.1299T>A commonName c.1299T>A
MMR_c.1085delC commonName c.1085delC
MMR_c.1444C>T commonName c.1444C>T
MMR_c.1835C>A commonName c.1835C>A
MMR_c.2045_2046delCT commonName c.2045_2046delCT
MMR_c.2150_2153delTCAG commonName c.2150_2153delTCAG
MMR_c.2302_2304delCCT commonName c.2302_2304delCCT
MMR_c.3067G>T commonName c.3067G>T
MMR_c.3020G>A commonName c.3020G>A
MMR_c.742C>T commonName c.742C>T
MMR_c.2360C>T commonName c.2360C>T
MMR_c.1079G>T commonName c.1079G>T
MMR_complex_48 commonName c.[2282G>A(+)3557-40T>A]
MMR_c.2062_2063delGT commonName c.2062_2063delGT
MMR_c.845dupT commonName c.845dupT
MMR_c.2768dupA commonName c.2768dupA
MMR_c.1421_1422dupTG commonName c.1421_1422dupTG
MMR_c.2194C>T commonName c.2194C>T
MMR_c.2611_2614dupATTA commonName c.2611_2614dupATTA
MMR_c.1632_1635delAAAA commonName c.1632_1635delAAAA
MMR_c.1190_1191delAT commonName c.1190_1191delAT
MMR_c.2348_2349delGT commonName c.2348_2349delGT
MMR_c.730C>T commonName c.730C>T
MMR_c.2329T>A commonName c.2329T>A
MMR_c.2061T>A commonName c.2061T>A
MMR_c.2661T>G commonName c.2661T>G
MMR_c.663A>G commonName c.663A>G
MMR_c.1770C>T commonName c.1770C>T
MMR_c.642C>T commonName c.642C>T
MMR_c.1164C>T commonName c.1164C>T
MMR_c.2400T>C commonName c.2400T>C
MMR_c.762_763delTG commonName c.762_763delTG
MMR_c.2983G>T commonName c.2983G>T
MMR_complex_49 commonName c.[663A>C(+)c.3415G>A]
MMR_c.3040_3042delAAG commonName c.3040_3042delAAG
MMR_complex_50 commonName c.[2633T>C(+)3207G>T]
MMR_c.3160A>T commonName c.3160A>T
MMR_c.660A>C commonName c.660A>C
MMR_c.1257G>A commonName c.1257G>A
MMR_c.2239C>T commonName c.2239C>T
MMR_c.1272C>G commonName c.1272C>G
MMR_c.2253T>C commonName c.2253T>C
MMR_c.2739T>C commonName c.2739T>C
MMR_c.1637_1638delAG commonName c.1637_1638delAG
MMR_c.2731C>T commonName c.2731C>T
MMR_c.3768T>G commonName c.3768T>G
MMR_c.1304T>C commonName c.1304T>C
MMR_c.1868C>T commonName c.1868C>T
MMR_c.2641delGinsAAAA commonName c.2641delGinsAAAA
MMR_c.648_649delinsTT commonName c.648_649AG>TT
MMR_c.2272C>T commonName c.2272C>T
MMR_c.2319C>T commonName c.2319C>T
MMR_c.1676G>A commonName c.1676G>A
MMR_c.1857A>C commonName c.1857A>C
MMR_c.2339C>G commonName c.2339C>G
MMR_c.2561A>T commonName c.2561A>T
MMR_c.2823_2825delTGC commonName c.2823_2825delTGC
MMR_c.2906A>G commonName c.2906A>G
MMR_c.3052_3053delCT commonName c.3052_3053delCT
MMR_c.2851_2858delCTCCTGGA commonName c.2851_2858delCTCCTGGA
MMR_c.1634_1637delAAGA commonName c.1634_1637delAAGA
MMR_c.1580delT commonName c.1580delT
MMR_c.2955C>G commonName c.2955C>G
MMR_c.814G>T commonName c.814G>T
MMR_c.1082G>A commonName c.1082G>A
MMR_c.1135_1139delAGAGA commonName c.1135_1139delAGAGA
MMR_complex_51 commonName c.[1596dupT]+[3261delC]
MMR_c.2815C>T commonName c.2815C>T
MMR_c.1667A>T commonName c.1667A>T
MMR_c.2295C>G commonName c.2295C>G
MMR_complex_52 commonName c.[2295C>G]+[2633T>C]
MMR_c.739_740insT commonName c.739_740insT
MMR_c.747G>A commonName c.747G>A
MMR_c.854G>T commonName c.854G>T
MMR_c.866_867delinsAA commonName c.866_867GC>AA
MMR_complex_53 commonName c.[868delC]+[3511_3516delGATAGAinsT]
MMR_c.944C>T commonName c.944C>T
MMR_c.1019T>C commonName c.1019T>C
MMR_c.1170T>C commonName c.1170T>C
MMR_c.1190A>G commonName c.1190A>G
MMR_c.1273A>G commonName c.1273A>G
MMR_c.1295_1296delinsGCA commonName c.1295_1296TTT>GCA
MMR_c.1346T>C commonName c.1346T>C
MMR_c.1421dupT commonName c.1421dupT
MMR_c.1526T>C commonName c.1526T>C
MMR_c.1565A>G commonName c.1565A>G
MMR_c.1602delC commonName c.1602delC
MMR_c.1613A>C commonName c.1613A>C
MMR_c.1614delTinsG commonName c.1614delTinsG
MMR_c.1636G>C commonName c.1636G>C
MMR_c.1696G>A commonName c.1696G>A
MMR_complex_54 commonName c.[1723G>T]+[4075G>T]
MMR_c.1806_1809delAAAG commonName c.1806_1809delAAAG
MMR_c.1875C>T commonName c.1875C>T
MMR_c.1901T>A commonName c.1901T>A
MMR_c.1901_1902delTG commonName c.1901_1902delTG
MMR_c.1957_1960dupGTGA commonName c.1957_1960dupGTGA
MMR_c.2008G>A commonName c.2008G>A
MMR_c.2054G>C commonName c.2054G>C
MMR_c.2079dupA commonName c.2079dupA
MMR_c.2092C>G commonName c.2092C>G
MMR_c.2105C>G commonName c.2105C>G
MMR_c.2165_2185delCTGGTGCTATCTTCACCAAAG commonName c.2165_2185delCTGGTGCTATCTTCACCAAAG
MMR_c.2175C>G commonName c.2175C>G
MMR_c.2183A>C commonName c.2183A>C
MMR_c.2191C>T commonName c.2191C>T
MMR_c.2315G>A commonName c.2315G>A
MMR_c.2389delG commonName c.2389delG
MMR_c.2398G>C commonName c.2398G>C
MMR_c.2399T>C commonName c.2399T>C
MMR_c.2408A>G commonName c.2408A>G
MMR_c.2549A>G commonName c.2549A>G
MMR_complex_55 commonName c.[2672delT; 2674delT]
MMR_c.2702G>A commonName c.2702 G>A
MMR_c.2927G>A commonName c.2927G>A
MMR_c.2931C>G commonName c.2931C>G
MMR_c.3013C>T commonName c.3013C>T
MMR_c.3028_3032delACTAT commonName c.3028_3032delACTAT
MMR_c.3062C>A commonName c.3062C>A
MMR_c.3092A>T commonName c.3092A>T
MMR_c.3155_3156delAG commonName c.3155_3156delAG
MMR_c.706C>T commonName c.706C>T
MMR_c.1677C>T commonName c.1677C>T
MMR_c.649_650insT commonName c.649_650insT
MMR_complex_56 commonName c.[2672delT (+) 2674delT]
MMR_complex_57 commonName c.[1835C>A]+[3226C>T]
MMR_c.3172+171C>T commonName c.3172+171C>T
MMR_c.3206G>A commonName c.3206G>A
MMR_c.3261delC commonName c.3261delC
MMR_c.3217C>T commonName c.3217C>T
MMR_c.3355G>T commonName c.3355G>T
MMR_c.3195_3198delCTAT commonName c.3195_3198delCTAT
MMR_c.3367G>T commonName c.3367G>T
MMR_c.3436C>T commonName c.3436C>T
MMR_c.3202C>T commonName c.3202C>T
MMR_c.3261dupC commonName c.3261dupC
MMR_c.3379_3438+5del commonName c.3379_3438+5del
MMR_c.3324dupT commonName c.3324dupT
MMR_complex_58 commonName c.[663A>C(+)3415G>A]
MMR_c.3425C>T commonName c.3425C>T
MMR_c.3246G>T commonName c.3246G>T
MMR_c.3226C>T commonName c.3226C>T
MMR_c.3221delT commonName c.3221delT
MMR_c.3263dupT commonName c.3263dupT
MMR_c.3182delT commonName c.3182delT
MMR_c.3195delC commonName c.3195delC
MMR_c.3198_3199dupTA commonName c.3198_3199dupTA
MMR_c.3259C>A commonName c.3259C>A
MMR_c.3259C>T commonName c.3259C>T
MMR_c.3260C>G commonName c.3260C>G
MMR_c.3260_3261dupCC commonName c.3260_3261dupCC
MMR_c.3284G>A commonName c.3284G>A
MMR_c.3299C>T commonName c.3299C>T
MMR_c.3306T>A commonName c.3306T>A
MMR_c.3311_3312delTT commonName c.3311_3312delTT
MMR_c.3312delT commonName c.3312delT
MMR_c.3320delA commonName c.3320delA
MMR_c.3415G>A commonName c.3415G>A
MMR_c.3419A>G commonName c.3419A>G
MMR_complex_59 commonName c.[3226C>T]+[1835C>A]
MMR_complex_60 commonName c.[3226C>T]+[3991C>T]
MMR_c.3273dupT commonName c.3273dupT
MMR_c.[3261dupC]+(3260_3261dupCC) commonName c.[3261dupC]+(3260_3261dupCC)
MMR_c.3173-446_3556+215del2269 commonName c.3173-446_3556+215del2269
MMR_c.3438+14A>T commonName c.3438+14A>T
MMR_c.3439-16C>T commonName c.3439-16C>T
MMR_c.3438+1G>A commonName c.3438+1G>A
MMR_c.3438+13dupT commonName c.3438+13dupT
MMR_c.3439-2A>G commonName c.3439-2A>G
MMR_c.3488A>T commonName c.3488A>T
MMR_c.3516_3519delAGTG commonName c.3516_3519delAGTG
MMR_c.3514dupA commonName c.3514dupA
MMR_c.3513_3514delTA commonName c.3513_3514delTA
MMR_c.3543C>G commonName c.3543C>G
MMR_c.3519_3522dupGTTT commonName c.3519_3522dupGTTT
MMR_c.3472T>C commonName c.3472T>C
MMR_c.3485_3487dupCTG commonName c.3485_3487dupCTG
MMR_c.3489_3490insCTG commonName c.3489_3490insCTG
MMR_c.3511_3512delGA commonName c.3511_3512delGA
MMR_c.3513T>C commonName c.3513T>C
MMR_c.3442G>C commonName c.3442G>C
MMR_c.3516_3527delAGTGTTTACTAG commonName c.3516_3527delAGTGTTTACTAG
MMR_c.3519_3520insA commonName c.3519_3520insA
MMR_c.3557-4delT commonName c.3557-4delT
MMR_c.3556+145A>G commonName c.3556+145A>G
MMR_c.3556+146G>A commonName c.3556+146G>A
MMR_c.3556+160T>C commonName c.3556+160T>C
MMR_c.3557-4dupT commonName c.3557-4dupT
MMR_c.3557-3dupA commonName c.3557-3dupA
MMR_c.3557-3A>T commonName c.3557-3A>T
MMR_c.3646_3646+3delGGTA commonName c.3646_3646+3delGGTA
MMR_c.3607_3610delCATG commonName c.3607_3610delCATG
MMR_c.3577G>A commonName c.3577G>A
MMR_c.3635dupT commonName c.[3635dupT]+[3635dupT]
MMR_complex_61 commonName c.[3638A>T]+[3778G>A]
MMR_c.3638A>T commonName c.3638A>T
MMR_c.3641A>C commonName c.3641A>C
MMR_c.3581dupT commonName c.3581dupT
MMR_c.3558_3565delTGAAAGTA commonName c.3558_3565delTGAAAGTA
MMR_c.3646+31_3646+34dupATCT commonName c.3646+31_3646+34dupATCT
MMR_c.3647-70_3647-54delTTTTTGTTTTAATTCCT commonName c.3647-70_c.3647-54delTTTTTGTTTTAATTCCT
MMR_c.3647-70_3647-54dupTTTTTGTTTTAATTCCT commonName c.3647-70_c.3647-54dupTTTTTGTTTTAATTCCT
MMR_c.3647-70_3647-65delTTTTTG commonName c.3647-70_3647-65delTTTTTG
MMR_c.3646+29_3646+32delCTAT commonName c.3646+29_3646+32delCTAT
MMR_c.3646+29_3646+32dupCTAT commonName c.3646+29_3646+32dupCTAT
MMR_c.3647-2A>C commonName c.3647-2A>C
MMR_c.3647-65_3647-61delGTTTT commonName c.3647-65_c.3647-61delGTTTT
MMR_c.3647-6_3647-1delTAACAG commonName c.3647-6_3647-1delTAACAG
MMR_c.3646-1A>G commonName c.3646-1G>A
MMR_c.3799_3800delAT commonName c.3799_3800delAT
MMR_c.3674C>T commonName c.3674C>T
MMR_c.3694G>C commonName c.3694G>C
MMR_c.3724_3726delCGT commonName c.3724_3726delCGT
MMR_c.3697_3700del commonName c.3697_3700del
MMR_c.3656C>T commonName c.3656C>T
MMR_c.3742C>G commonName c.3742C>G
MMR_c.3772C>T commonName c.3772C>T
MMR_c.3725G>T commonName c.3725G>T
MMR_c.3678_3706dup commonName c.3678_3706dup
MMR_c.3650G>A commonName c.3650G>A
MMR_c.3801+52_3801+53insA commonName c.3801+52_3801+53insA
MMR_c.3801+17T>C commonName c.3801+17T>C
MMR_c.3801+54C>G commonName c.3801+54C>G
MMR_c.3802-41dupT commonName c.3802-41dupT
MMR_c.3802-40C>G commonName c.3802-40C>G
MMR_c.3804dupA commonName c.3804dupA
MMR_c.3838C>T commonName c.3838C>T
MMR_c.3851C>T commonName c.3851C>T
MMR_c.3852G>A commonName c.3852G>A
MMR_c.3939_3957dupTCAAAAGGGACATAGAAAA commonName c.3939_3957dupTCAAAAGGGACATAGAAAA
MMR_c.3953_3954ins32 commonName c.3953_3954ins32
MMR_c.3956_3959delAAGC commonName c.3956_3959delAAGC
MMR_c.3959_3962delCAAG commonName c.3959_3962delCAAG
MMR_c.3984_3987dupGTCA commonName c.3984_3987dupGTCA
MMR_c.3991C>T commonName c.3991C>T
MMR_c.4001G>A commonName c.4001G>A
MMR_c.3958_3961delGCAA commonName c.3958_3961delGCAA
MMR_c.3961A>G commonName c.3961A>G
MMR_c.3840_3846delGGAGACT commonName c.3840_3846delGGAGACT
MMR_c.3958_3959ins19 commonName c.3958_3959ins19
MMR_c.3984_3985insATCA commonName c.3984_3985insATCA
MMR_c.3963A>T commonName c.3963A>T
MMR_c.3938_3941dupTTCA commonName c.3938_3941dupTTCA
MMR_complex_62 commonName c.[3820G>A]+[3821_3824dupAATG]
MMR_c.3932_3935dupAAGT commonName c.3932_3935dupAAGT
MMR_c.3847_3850dupATTA commonName c.3847_3850dupATTA
MMR_c.3930G>C commonName c.3930G>C
MMR_c.3887_3893delAAAGCTA commonName c.3887_3893delAAAGCTA
MMR_c.3986C>T commonName c.3986C>T
MMR_c.4001+2T>C commonName c.4001+2T>C
MMR_c.4001+12_4001+15delACTA commonName c.4001+12_4001+15delACTA
MMR_c.4002-31_4002-8delins commonName c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
MMR_c.4002-31_4002-8delins24 commonName c.[4002-31_4002-8delins24(+)4002-31_4002-8delins24]
MMR_c.4002-10_4002-13dupTTTT commonName c.4002-10_4002-13dupTTTT
MMR_c.4001+10_4001+13delTAAC commonName c.4001+10_4001+13delTAAC
MMR_c.4001+41_4001+44dupTAAG commonName c.4001+41_4001+44dupTAAG
MMR_c.4001+32_4001+35dupAACT commonName c.4001+32_4001+35dupAACT
MMR_c.4002-10delT commonName c.4002-10delT
MMR_c.4002-10dupT commonName c.4002-10dupT
MMR_c.4002-10_4002-11dupTT commonName c.4002-10_4002-11dupTT
MMR_c.4002-10_4002-11delTT commonName c.4002-10_4002-11delTT
MMR_c.4002-10_4002-12dupTTT commonName c.4002-10_4002-12dupTTT
MMR_c.4002-8dupA commonName c.4002-8dupA
MMR_c.4061T>A commonName c.4061T>A
MMR_c.4064_4065insGTCA commonName c.4064_4065insGTCA
MMR_c.4066_4069dupTTGA commonName c.4066_4069dupTTGA
MMR_c.*85T>A commonName c.*85T>A
MMR_c.-195T>C commonName c.-195T>C
MMR_c.-123delC commonName c.-123delC
MMR_c.906-?_2589+?del commonName c.906-?_2589+?del
MMR_c.52A>G commonName c.52A>G
MMR_c.59G>A commonName c.59G>A
MMR_complex_63 commonName c.[137G>T (+) 1927C>T]
MMR_complex_64 commonName c.[137G>T (+) 780C>G (+) 1408C>T (+) 1621A>G]
MMR_complex_65 commonName c.[59G>A (+) 1688G>T (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA]
MMR_complex_66 commonName c.[59G>A (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA]
MMR_complex_67 commonName c.[52G>A (+) 780C>G (+) 1621A>G (+) 2570G>C]
MMR_complex_68 commonName c.[59G>A (+) 780C>G (+) 1408C>T (+) 1711C>A (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *92dupA]
MMR_complex_69 commonName c.[52A>G (+) 780C>G (+) 1408C>T (+) 2324A>G (+) 2340C>T]
MMR_complex_70 commonName c.[137G>T]+[1730dupA;1732C>T]
MMR_complex_71 commonName c.[52A>G (+) 780C>G (+) 1866G>A (+) 2570G>C]
MMR_complex_72 commonName c.[137G>A]+[137G>T]
MMR_c.24-?_163+?del commonName c.24-?_163+?del
MMR_c.137G>A commonName c.137G>A
MMR_complex_73 commonName c.[137G>T]+[137G>A]
MMR_c.182delA commonName c.182delA
MMR_c.251-8T>C commonName c.251-8T>C
MMR_c.250+108A>G commonName c.250+108A>G
MMR_c.288C>T commonName c.288C>T
MMR_c.320G>A commonName c.320G>A
MMR_c.325G>A commonName c.325G>A
MMR_c.400C>T commonName c.400C>T
MMR_complex_74 commonName c.[400C>T]+[2184_2185delTC]
MMR_c.354-?_803+?del commonName c.354-?_803+?del
MMR_538-223A>G commonName 538-223A>G
MMR_c.703C>T commonName c.703C>T
MMR_c.543delT commonName c.[543delT]+[543delT]
MMR_complex_75 commonName c.[544G>A (+) 705+1G>T (+) 780C>G (+) 1621A>G (+) *92dupA]
MMR_complex_76 commonName c.[780C>G (+) 1408C>T]
MMR_c.593dupT commonName c.593dupT
MMR_c.705+1G>T commonName c.705+1G>T
MMR_c.705+17A>G commonName c.705+17A>G
MMR_c.780C>G commonName c.780C>G
MMR_complex_77 commonName c.[544G>A (+) 736_741delCCCCCTins11 (+) 1454C>A (+) 1531A>G]
MMR_complex_78 commonName c.[780C>G (+) 1408C>T (+) 1621A>G]
MMR_complex_79 commonName c.[780C>G (+) 1621A>G]
MMR_complex_80 commonName c.[780G>C (+) 1408C>T]
MMR_complex_81 commonName c.[736_741delCCCCCTins11 (+) 1408C>T (+) 1531A>G (+) 2007-4G>A]
MMR_complex_82 commonName c.[736_741delCCCCCTins11 (+) 1531A>G (+) 1621A>G]
MMR_c.736_741delCCCCCTins11 commonName c.736_741delCCCCCTins11
MMR_c.802dupT commonName c.802dupT
MMR_c.736_741delCCCCCTinsTGTGTGTGAAG commonName c.736_741delCCCCCTinsTGTGTGTGAAG
MMR_c.706-?_803+?del commonName c.[706-?_803+?del]+[706-?_803+?del]
MMR_c.804-10T>G commonName c.804-10T>G
MMR_c.804-243G>A commonName c.804-243G>A
MMR_c.804-?_903+?del commonName c.804-?_903+?del
MMR_c.835G>T commonName c.835G>T
MMR_c.856delG commonName c.856delG
MMR_complex_83 commonName c.[862_863delCA (+) 1408C>T (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA]
MMR_complex_84 commonName c.[804-?_903+?del (+) 1408C>T (+) 2007-4G>A (+) 2390T>G]
MMR_c.903G>T commonName c.903G>T
MMR_c.861_864delACAG commonName c.861_864delACAG
MMR_c.862_863delCA commonName c.862_863delCA
MMR_c.904-?_988+?del commonName c.904-?_988+?del
MMR_c.949C>T commonName c.949C>T
MMR_c.988+78G>A commonName c.988+78G>A
MMR_c.989-?_1144+?del commonName c.989-?_1144+?del
MMR_c.1021delA commonName c.1021delA
MMR_c.989-296_1144+706del commonName c.989-296_1144+706del
MMR_c.1076dupT commonName c.1076dupT
MMR_c.1145-5C>T commonName c.1145-5C>T
MMR_c.1144+2T>A commonName c.1144+2T>A
MMR_c.1408C>T commonName c.1408C>T
MMR_c.1454C>A commonName c.1454C>A
MMR_c.1621A>G commonName c.1621A>G
MMR_c.1688G>T commonName c.1688G>T
MMR_c.1753C>A commonName c.1753C>A
MMR_c.1789A>T commonName c.1789A>T
MMR_c.1866G>A commonName c.1866G>A
MMR_c.1882C>T commonName c.1882C>T
MMR_c.1531A>G commonName c.1531A>G
MMR_c.1145-?_2589+?del commonName c.1145-?_2589+?del
MMR_c.1927C>T commonName c.1927C>T
MMR_c.1411C>T commonName c.1411C>T
MMR_c.1169_1170ins20 commonName c.[1169_1170ins20]+[1169_1170ins20]
MMR_c.1237_1239delAAA commonName c.1237_1239delAAA
MMR_complex_85 commonName c.[1221delG (+) 2361_2364delCTTC]
MMR_c.1437C>G commonName c.1437C>G
MMR_c.1488C>T commonName c.1488C>T
MMR_c.1831dupA commonName c.1831dupA
MMR_complex_86 commonName c.[1408C>T (+) 1531A>G]
MMR_complex_87 commonName c.[1408C>T (+) 1621A>G]
MMR_c.1221delG commonName c.1221delG
MMR_complex_88 commonName c.[1408C>T (+) 1688G>T (+) 2570G>C]
MMR_complex_89 commonName c.[1408C>T (+) 1621A>G (+) 2007-4G>A]
MMR_complex_90 commonName c.[59G>A (+) 1621A>G (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA]
MMR_complex_91 commonName c.[1408C>T (+) 2007-4G>A]
MMR_complex_92 commonName c.[1408C>T (+) 1789A>T]
MMR_complex_93 commonName c.[1621A>G (+) 2113G>A]
MMR_c.1768delA commonName c.1768delA
MMR_c.1506T>A commonName c.1506T>A
MMR_c.1526C>A commonName c.1526C>A
MMR_c.1530C>A commonName c.1530C>A
MMR_c.1571C>A commonName c.1571C>A
MMR_c.1576G>A commonName c.1576G>A
MMR_c.1618C>A commonName c.1618C>A
MMR_c.1760_1761delGTinsCG commonName c.1760_1761delGTinsCG
MMR_c.1957T>G commonName c.1957T>G
MMR_c.1507_1508delTCinsGG commonName c.1507_1508delTCinsGG
MMR_c.1519A>T commonName c.1519A>T
MMR_c.1532_1533delCGinsAC commonName c.1532_1533delCGinsAC
MMR_c.1578C>A commonName c.1578C>A
MMR_c.1688G>A commonName c.1688G>A
MMR_c.1714G>A commonName c.1714G>A
MMR_c.1741A>G commonName c.1741A>G
MMR_c.1744G>A commonName c.1744G>A
MMR_c.1774C>T commonName c.1774C>T
MMR_complex_94 commonName c.[1780T>G(+)1782A>T]
MMR_complex_95 commonName c.[1789A>T(+)1791T>C]
MMR_c.1794G>C commonName c.1794G>C
MMR_complex_96 commonName c.[1793A>C(+)1794G>A]
MMR_c.1795_1796delGAinsCC commonName c.1795_1796delGAinsCC
MMR_c.1805C>G commonName c.1805C>G
MMR_complex_97 commonName c.[1810C>T(+)1812G>A]
MMR_complex_98 commonName c.[1822G>T(+)1824T>C
MMR_c.1853T>G commonName c.1853T>G
MMR_c.1870T>G commonName c.1870T>G
MMR_c.1874T>A commonName c.1874T>A
MMR_c.1931A>T commonName c.1931A>T
MMR_c.1952A>G commonName c.1952A>G
MMR_complex_99 commonName c.[1954A>T(+)1956T>G]
MMR_c.1522A>C commonName c.1522A>C
MMR_c.1537_1538delAGinsGA commonName c.1537_1538delAGinsGA
MMR_c.1556A>G commonName c.1556A>G
MMR_c.1559C>T commonName c.1559C>T
MMR_c.1717A>T commonName c.1717A>T
MMR_c.1733G>T commonName c.1733G>T
MMR_c.1747G>A commonName c.1747G>A
MMR_c.1759_1760delAGinsGA commonName c.1759_1760delAGinsGA
MMR_c.1768A>C commonName c.1768A>C
MMR_complex_100 commonName c.[1798A>C(+)1800G>T]
MMR_c.1802C>T commonName c.1802C>T
MMR_c.1837A>T commonName c.1837A>T
MMR_c.1885A>T commonName c.1885A>T
MMR_c.1898A>T commonName c.1898A>T
MMR_complex_101 commonName c.[1408C>T (+) 2570G>C]
MMR_c.1145-?_2174-?del commonName c.1145-?_2174-?del
MMR_c.1738A>T commonName c.1738A>T
MMR_c.1939A>T commonName c.1939A>T
MMR_c.1840A>T commonName c.1840A>T
MMR_c.1145-?_2445+?del commonName c.[1145-?_2445+?del]+[1145-?_2445+?del]
MMR_complex_102 commonName c.[1408C>T(+)1454C>A(+)1840A>T]
MMR_complex_103 commonName c.[1454C>A(+)1840A>T]
MMR_c.1306dupA commonName c.1306dupA
MMR_c.2006+6G>A commonName c.2006+6G>A
MMR_c.2007-1G>A commonName c.2007-1G>A
MMR_complex_104 commonName c.[2007-1G>A (+) *92dupA]
MMR_c.2007-4G>A commonName c.2007-4G>A
MMR_c.2007-7C>T commonName c.2007-7C>T
MMR_c.2007-11T>C commonName c.2007-11T>C
MMR_c.2113G>A commonName c.2113G>A
MMR_c.2019T>G commonName c.2019T>G
MMR_complex_105 commonName c.[2035A>T(+)2037T>G]
MMR_c.2174+1G>A commonName c.2174+1G>A
MMR_c.2192_2196delTAACT commonName c.2192_2196delTAACT
MMR_c.2243_2246delAGAA commonName c.2243_2246delAGAA
MMR_c.2184_2185delTC commonName c.2184_2185delTC
MMR_c.2404C>T commonName c.[2404C>T]+[2404C>T]
MMR_c.2324A>G commonName c.2324A>G
MMR_c.2340C>T commonName c.2340C>T
MMR_c.2361_2364delCTTC commonName c.2361_2364delCTTC
MMR_c.2570G>C commonName c.2570G>C
MMR_c.2466T>C commonName c.2466T>C
MMR_c.2528G>A commonName c.2528G>A
VWF_c.55G>A commonName 55G>A
VWF_c.55G>A protEffect p.G19R
VWF_c.55G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.100C>G commonName 100C>G
VWF_c.100C>G protEffect p.R34G
VWF_c.100C>G phenoCommon von Willebrand Disease, Type 3 (Type 1)
VWF_c.100C>T commonName 100C>T
VWF_c.100C>T protEffect p.R34X
VWF_c.100C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.139G>C commonName 139G>C
VWF_c.139G>C protEffect p.D47H
VWF_c.139G>C phenoCommon von Willebrand Disease, Type 3
VWF_c.147C>A commonName 147C>A
VWF_c.147C>A protEffect p.S49R
VWF_c.147C>A phenoCommon von Willebrand Disease, Type 1
VWF_c.171C>A commonName 171C>A
VWF_c.171C>A protEffect p.C57X
VWF_c.171C>A phenoCommon von Willebrand Disease, Type 3
VWF_c.191delG commonName 191delG
VWF_c.191delG phenoCommon von Willebrand Disease, Type 3
VWF_c.212C>A commonName 212C>A
VWF_c.212C>A protEffect p.S71X
VWF_c.212C>A phenoCommon von Willebrand Disease, Type 3
VWF_c.253T>C commonName 253T>C
VWF_c.253T>C protEffect p.S85P
VWF_c.253T>C phenoCommon von Willebrand Disease, Type 3
VWF_c.260A>C commonName 260A>C
VWF_c.260A>C protEffect p.Y87S
VWF_c.260A>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.276delT commonName 276delT
VWF_c.276delT phenoCommon von Willebrand Disease, Type 3
VWF_c.276_277insT commonName 276_277insT
VWF_c.276_277insT phenoCommon von Willebrand Disease, Type 2N
VWF_c.374_387del commonName 374-387del14
VWF_c.374_387del protEffect p.G125fs
VWF_c.374_387del phenoCommon von Willebrand Disease, Type 3
VWF_c.375_376delGTinsC commonName 375_376delGTinsC
VWF_c.375_376delGTinsC phenoCommon von Willebrand Disease, Type 3
VWF_c.385C>A commonName 385C>A
VWF_c.385C>A protEffect p.L129M
VWF_c.385C>A phenoCommon von Willebrand Disease, Type 1
VWF_c.421G>A commonName 421G>A
VWF_c.421G>A protEffect p.D141N
VWF_c.421G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.421G>T commonName 421G>T
VWF_c.421G>T protEffect p.D141Y
VWF_c.421G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.422A>G commonName 422A>G
VWF_c.422A>G protEffect p.D141G
VWF_c.422A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.449T>A commonName 449T>A
VWF_c.449T>A protEffect p.L150E
VWF_c.449T>A phenoCommon von Willebrand Disease, Type 3
VWF_c.449T>C commonName 449T>C
VWF_c.449T>C protEffect p.L150P
VWF_c.449T>C phenoCommon von Willebrand Disease, Type 3
VWF_c.478G>T commonName 478G>T
VWF_c.478G>T protEffect p.G160W
VWF_c.478G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.497A>T commonName 497A>T
VWF_c.497A>T protEffect p.N166I
VWF_c.497A>T phenoCommon von Willebrand Disease, Type 1
VWF_c.533-2A>G commonName 533-2A>G
VWF_c.533-2A>G phenoCommon von Willebrand Disease, Type 3
VWF_c.652C>T commonName 652C>T
VWF_c.652C>T protEffect p.Q218X
VWF_c.652C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.666G>A commonName 666G>A
VWF_c.666G>A protEffect p.W222X
VWF_c.666G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.788_811del commonName 788_811del
VWF_c.788_811del phenoCommon von Willebrand Disease, Type 3
VWF_c.817C>T commonName 817C>T
VWF_c.817C>T protEffect p.R273W
VWF_c.817C>T phenoCommon von Willebrand Disease, Type 1 (Type 3)
VWF_c.823T>A commonName 823T>A
VWF_c.823T>A protEffect p.C275S
VWF_c.823T>A phenoCommon von Willebrand Disease, Type 3
VWF_c.823T>C commonName 823T>C
VWF_c.823T>C protEffect p.C275R
VWF_c.823T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.874+1G>A commonName 874+1G>A
VWF_c.874+1G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.893_894insG commonName 893_894insG
VWF_c.893_894insG phenoCommon von Willebrand Disease, Type 3
VWF_c.970C>T commonName 970C>T
VWF_c.970C>T protEffect p.R324X
VWF_c.970C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.971G>A commonName 971G>A
VWF_c.971G>A protEffect p.R324Q
VWF_c.971G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.988dupA commonName 988dupA
VWF_c.988dupA protEffect p.S330KfsX4
VWF_c.988dupA phenoCommon von Willebrand Disease, Type 3
VWF_c.1071C>A commonName 1071C>A
VWF_c.1071C>A protEffect p.Y357X
VWF_c.1071C>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.1093C>T commonName 1093C>T
VWF_c.1093C>T protEffect p.R365X
VWF_c.1093C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.1109+2T>C commonName 1109+2T>C
VWF_c.1109+2T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.1110-1G>A commonName 1110-1G>A
VWF_c.1110-1G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1117C>T commonName 1117C>T
VWF_c.1117C>T protEffect p.R373X
VWF_c.1117C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.1131G>T commonName 1131G>T
VWF_c.1131G>T protEffect p.W377C
VWF_c.1131G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.1212_1213insAATCCC commonName 1212ins6 (AATCCC)
VWF_c.1212_1213insAATCCC protEffect p.F404insNP
VWF_c.1212_1213insAATCCC phenoCommon von Willebrand Disease, Type 2A
VWF_c.1280T>A commonName 1280T>A
VWF_c.1280T>A protEffect p.I427N
VWF_c.1280T>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1309_1326del commonName 1309-1326del
VWF_c.1309_1326del protEffect p.D437_R442del
VWF_c.1309_1326del phenoCommon von Willebrand Disease, Type 2A
VWF_c.1533+15G>A commonName 1533+15G>A
VWF_c.1533+15G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.1534-3C>A commonName 1534-3C>A
VWF_c.1534-3C>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1573G>A commonName 1573G>A
VWF_c.1573G>A protEffect p.G525R
VWF_c.1573G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1583A>G commonName 1583A>G
VWF_c.1583A>G protEffect p.N528S
VWF_c.1583A>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.1648G>A commonName 1648G>A
VWF_c.1648G>A protEffect p.G550R
VWF_c.1648G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.1657dupT commonName 1657dupT
VWF_c.1657dupT protEffect p.W553LfsX97
VWF_c.1657dupT phenoCommon von Willebrand Disease, Type 3
VWF_c.1709G>C commonName 1709G>C
VWF_c.1709G>C protEffect p.C570S
VWF_c.1709G>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.1728G>T commonName 1728G>T
VWF_c.1728G>T protEffect p.M576I
VWF_c.1728G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.1730-2A>G commonName 1730-2A>G
VWF_c.1730-2A>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.1781C>G commonName 1781C>G
VWF_c.1781C>G protEffect p.A594G
VWF_c.1781C>G phenoCommon von Willebrand Disease, Type 1
VWF_c.1830C>A commonName 1830C>A
VWF_c.1830C>A protEffect p.Y610X
VWF_c.1830C>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1858G>T commonName 1858G>T
VWF_c.1858G>T protEffect p.E620X
VWF_c.1858G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.1869C>G commonName 1869C>G
VWF_c.1869C>G protEffect p.C623W
VWF_c.1869C>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.1873_1874insGCG commonName 1873_1874insGCG
VWF_c.1873_1874insGCG phenoCommon von Willebrand Disease, Type 2A
VWF_c.1922C>T commonName 1922C>T
VWF_c.1922C>T protEffect p.A641V
VWF_c.1922C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.1926G>A commonName 1926G>A
VWF_c.1926G>A protEffect p.W642X
VWF_c.1926G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.1930G>T commonName 1930G>T
VWF_c.1930G>T protEffect p.E644X
VWF_c.1930G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.1946-4C>T commonName 1946-4C>T
VWF_c.1946-4C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.2016_2019delCTCT commonName 2016_2019delCTCT
VWF_c.2016_2019delCTCT phenoCommon von Willebrand Disease, Type 3
VWF_c.2072delC commonName 2072delC
VWF_c.2072delC phenoCommon von Willebrand Disease, Type 1
VWF_c.2116C>T commonName 2116C>T
VWF_c.2116C>T protEffect p.Q706X
VWF_c.2116C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.2124_2125delCT commonName 2124_2125delCT
VWF_c.2124_2125delCT phenoCommon von Willebrand Disease, Type 2A
VWF_c.2157delA commonName 2157delA
VWF_c.2157delA phenoCommon von Willebrand Disease, Type 3
VWF_c.2220G>A commonName 2220G>A
VWF_c.2220G>A protEffect p.M740I
VWF_c.2220G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.2269_2270delCT commonName 2269_2270delCT
VWF_c.2269_2270delCT phenoCommon von Willebrand Disease, Type 3
VWF_c.2278C>T commonName 2278C>T
VWF_c.2278C>T protEffect p.R760C
VWF_c.2278C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2279G>A commonName 2279G>A
VWF_c.2279G>A protEffect p.R760H
VWF_c.2279G>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.2284A>G commonName 2284A>G
VWF_c.2284A>G protEffect p.K762E
VWF_c.2284A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.2287A>G commonName 2287A>G
VWF_c.2287A>G protEffect p.R763G
VWF_c.2287A>G phenoCommon von Willebrand Disease, Type 2N
VWF_c.2313G>T commonName 2313G>T
VWF_c.2313G>T protEffect p.M771I
VWF_c.2313G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.2344C>T commonName 2344C>T
VWF_c.2344C>T protEffect p.R782W
VWF_c.2344C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2345G>A commonName 2345G>A
VWF_c.2345G>A protEffect p.R782Q
VWF_c.2345G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.2354G>A commonName 2354G>A
VWF_c.2354G>A protEffect p.G785E
VWF_c.2354G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2359G>A commonName 2359G>A
VWF_c.2359G>A protEffect p.E787K
VWF_c.2359G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2362T>C commonName 2362T>C
VWF_c.2362T>C protEffect p.C788R
VWF_c.2362T>C phenoCommon von Willebrand Disease, Type 2N
VWF_c.2363G>A commonName 2363G>A
VWF_c.2363G>A protEffect p.C788Y
VWF_c.2363G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2365A>C commonName 2365A>C
VWF_c.2365A>C protEffect p.T789P
VWF_c.2365A>C phenoCommon von Willebrand Disease, Type 2N
VWF_c.2372C>T commonName 2372C>T
VWF_c.2372C>T protEffect p.T791M
VWF_c.2372C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2384A>G commonName 2384A>G
VWF_c.2384A>G protEffect p.Y795C
VWF_c.2384A>G phenoCommon von Willebrand Disease, Type 2N
VWF_c.2398A>G commonName 2398A>G
VWF_c.2398A>G protEffect p.M800V
VWF_c.2398A>G phenoCommon von Willebrand Disease, Type 2N
VWF_c.2411G>T commonName 2411G>T
VWF_c.2411G>T protEffect p.C804F
VWF_c.2411G>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2435C>T commonName 2435C>T
VWF_c.2435C>T protEffect p.P812L
VWF_c.2435C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2435delC commonName 2435delC
VWF_c.2435delC phenoCommon von Willebrand Disease, Type 3
VWF_c.(?_2443)_(2546_?)del commonName Exon 18 deletion
VWF_c.(?_2443)_(2546_?)del phenoCommon von Willebrand Disease, Type 3
VWF_c.2443-1G>C commonName 2443-1G>C
VWF_c.2443-1G>C phenoCommon von Willebrand Disease, Type 3
VWF_c.2446C>T commonName 2446C>T
VWF_c.2446C>T protEffect p.R816W
VWF_c.2446C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2447G>A commonName 2447G>A
VWF_c.2447G>A protEffect p.R816Q
VWF_c.2447G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2451T>A commonName 2451T>A
VWF_c.2451T>A protEffect p.H817Q
VWF_c.2451T>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2515delG commonName 2515delG
VWF_c.2515delG phenoCommon von Willebrand Disease, Type 1
VWF_c.2540_2541insA commonName 2540_2541insA
VWF_c.2540_2541insA phenoCommon von Willebrand Disease, Type 3
VWF_c.2560C>T commonName 2560C>T
VWF_c.2560C>T protEffect p.R854W
VWF_c.2560C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2561G>A commonName 2561G>A
VWF_c.2561G>A protEffect p.R854Q
VWF_c.2561G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2573G>T commonName 2573G>T
VWF_c.2573G>T protEffect p.C858F
VWF_c.2573G>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.2635G>A commonName 2635G>A
VWF_c.2635G>A protEffect p.D879N
VWF_c.2635G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2641delC commonName 2641delC
VWF_c.2641delC phenoCommon von Willebrand Disease, Type 3
VWF_c.2685+2T>C commonName 2685+2T>C
VWF_c.2685+2T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.2686-1G>C commonName 2686-1G>C
VWF_c.2686-1G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.2686-2A>G commonName 2686-2A>G
VWF_c.2686-2A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.2734_2735insT commonName 2734_2735insT
VWF_c.2734_2735insT phenoCommon von Willebrand Disease, Type 3
VWF_c.2770C>T commonName 2770C>T
VWF_c.2770C>T protEffect p.R924W
VWF_c.2770C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.2771G>A commonName 2771G>A
VWF_c.2771G>A protEffect p.R924Q
VWF_c.2771G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.2820+1G>A commonName 2820+1G>A
VWF_c.2820+1G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.2820+1G>C commonName 2820+1G>C
VWF_c.2820+1G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.2936G>A commonName 2936G>A
VWF_c.2936G>A protEffect p.S979N
VWF_c.2936G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.2986T>G commonName 2986T>G
VWF_c.2986T>G protEffect p.C996E
VWF_c.2986T>G phenoCommon von Willebrand Disease, Type 1
VWF_c.3072delC commonName 3072delC
VWF_c.3072delC protEffect p.S1024fs
VWF_c.3072delC phenoCommon von Willebrand Disease, Type 1
VWF_c.3108+5G>A commonName 3108+5G>A
VWF_c.3108+5G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.3159G>T commonName 3159G>T
VWF_c.3159G>T protEffect p.Q1053H
VWF_c.3159G>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.3178T>C commonName 3178T>C
VWF_c.3178T>C protEffect p.C1060R
VWF_c.3178T>C phenoCommon von Willebrand Disease, Type 2N
VWF_c.3179G>A commonName 3179G>A
VWF_c.3179G>A protEffect p.C1060Y
VWF_c.3179G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.3212G>T commonName 3212G>T
VWF_c.3212G>T protEffect p.C1071F
VWF_c.3212G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.3232G>A commonName 3232G>A
VWF_c.3232G>A protEffect p.E1078K
VWF_c.3232G>A phenoCommon von Willebrand Disease, Type 2N
VWF_c.3281T>C commonName 3281T>C
VWF_c.3281T>C protEffect p.I1094T
VWF_c.3281T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3301T>C commonName 3301T>C
VWF_c.3301T>C protEffect p.C1101R
VWF_c.3301T>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.3303C>G commonName 3303C>G
VWF_c.3303C>G protEffect p.C1101W
VWF_c.3303C>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.3320A>G commonName 3320A>G
VWF_c.3320A>G protEffect p.Y1107C
VWF_c.3320A>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.3332G>A commonName 3332G>A
VWF_c.3332G>A protEffect p.C1111Y
VWF_c.3332G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.3359G>C commonName 3359G>C
VWF_c.3359G>C protEffect p.W1120S
VWF_c.3359G>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.3379+1G>A commonName 3379+1G>A
VWF_c.3379+1G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.3385_3386delAG commonName 3385_3386delAG
VWF_c.3385_3386delAG phenoCommon von Willebrand Disease, Type 3
VWF_c.3388T>C commonName 3388T>C
VWF_c.3388T>C protEffect p.C1130R
VWF_c.3388T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3388T>G commonName 3388T>G
VWF_c.3388T>G protEffect p.C1130G
VWF_c.3388T>G phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3389G>T commonName 3389G>T
VWF_c.3389G>T protEffect p.C1130F
VWF_c.3389G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.3430T>G commonName 3430T>G
VWF_c.3430T>G protEffect p.W1144G
VWF_c.3430T>G phenoCommon von Willebrand Disease, Type 1
VWF_c.3437A>G commonName 3437A>G
VWF_c.3437A>G protEffect p.Y1146C
VWF_c.3437A>G phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3445T>C commonName 3445T>C
VWF_c.3445T>C protEffect p.C1149R
VWF_c.3445T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3460C>T commonName 3460C>T
VWF_c.3460C>T protEffect p.Q1154X
VWF_c.3460C>T phenoCommon von Willebrand Disease, Type 2N
VWF_c.3467C>T commonName 3467C>T
VWF_c.3467C>T protEffect p.T1156M
VWF_c.3467C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.3470G>T commonName 3470G>T
VWF_c.3470G>T protEffect p.C1157F
VWF_c.3470G>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.3511G>C commonName 3511G>C
VWF_c.3511G>C protEffect p.E1171Q
VWF_c.3511G>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.3538+1G>A commonName 3538+1G>A
VWF_c.3538+1G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.3538G>A commonName 3538G>A
VWF_c.3538G>A protEffect p.G1180R
VWF_c.3538G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.3568T>C commonName 3568T>C
VWF_c.3568T>C protEffect p.C1190R
VWF_c.3568T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3586T>C commonName 3586T>C
VWF_c.3586T>C protEffect p.C1196R
VWF_c.3586T>C phenoCommon von Willebrand Disease, Type 2M
VWF_c.3614G>A commonName 3614G>A
VWF_c.3614G>A protEffect p.R1205H
VWF_c.3614G>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.3614G>T commonName 3614G>T
VWF_c.3614G>T protEffect p.R1205L
VWF_c.3614G>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.3673T>G commonName 3673T>G
VWF_c.3673T>G protEffect p.C1225G
VWF_c.3673T>G phenoCommon von Willebrand Disease, Type 2N
VWF_c.3679T>C commonName 3679T>C
VWF_c.3679T>C protEffect p.C1227R
VWF_c.3679T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3686T>G commonName 3686T>G
VWF_c.3686T>G protEffect p.V1229G
VWF_c.3686T>G phenoCommon von Willebrand Disease, Type 1
VWF_c.3692A>C commonName 3692A>C
VWF_c.3692A>C protEffect p.N1231T
VWF_c.3692A>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3702T>G commonName 3702T>G
VWF_c.3702T>G protEffect p.C1234W
VWF_c.3702T>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.3797C>A commonName 3797C>A
VWF_c.3797C>A protEffect p.P1266Q
VWF_c.3797C>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.3797C>T commonName 3797C>T
VWF_c.3797C>T protEffect p.P1266L
VWF_c.3797C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.3802C>A commonName 3802C>A
VWF_c.3802C>A protEffect p.H1268N
VWF_c.3802C>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.3802C>G commonName 3802C>G
VWF_c.3802C>G protEffect p.H1268D
VWF_c.3802C>G phenoCommon von Willebrand Disease, Type 2B
VWF_c.3814T>C commonName 3814T>C
VWF_c.3814T>C protEffect p.C1272R
VWF_c.3814T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.3814T>G commonName 3814T>G
VWF_c.3814T>G protEffect p.C1272G
VWF_c.3814T>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.3814_3815insATTTCTACT commonName 3814_3815insATTTCTACT
VWF_c.3814_3815insATTTCTACT phenoCommon von Willebrand Disease, Type 2A
VWF_c.3815G>C commonName 3815G>C
VWF_c.3815G>C protEffect p.C1272S
VWF_c.3815G>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.3815G>T commonName 3815G>T
VWF_c.3815G>T protEffect p.C1272F
VWF_c.3815G>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.3827T>C commonName 3827T>C
VWF_c.3827T>C protEffect p.L1276P
VWF_c.3827T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.3831_3833delCCT commonName 3831-3833delCCT
VWF_c.3831_3833delCCT phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3835G>A commonName 3835G>A
VWF_c.3835G>A protEffect p.V1279I
VWF_c.3835G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.3835G>T commonName 3835G>T
VWF_c.3835G>T protEffect p.V1279F
VWF_c.3835G>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.3839_3845dup commonName 3839-3845dup7
VWF_c.3839_3845dup phenoCommon von Willebrand Disease, Type 1
VWF_c.3845T>G commonName 3845T>G
VWF_c.3845T>G protEffect p.L1282R
VWF_c.3845T>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.3853T>C commonName 3853T>C
VWF_c.3853T>C protEffect p.S1285P
VWF_c.3853T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.3854C>T commonName 3854C>T
VWF_c.3854C>T protEffect p.S1285F
VWF_c.3854C>T phenoCommon von Willebrand Disease, Type 2M
VWF_c.3863T>G commonName 3863T>G
VWF_c.3863T>G protEffect p.L1288R
VWF_c.3863T>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.3877T>C commonName 3877T>C
VWF_c.3877T>C protEffect p.F1293L
VWF_c.3877T>C phenoCommon von Willebrand Disease, Type 2M
VWF_c.3887T>C commonName 3887T>C
VWF_c.3887T>C protEffect p.L1296P
VWF_c.3887T>C phenoCommon von Willebrand Disease, Type 2M
VWF_c.3905A>G commonName 3905A>G
VWF_c.3905A>G protEffect p.D1302G
VWF_c.3905A>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.3910A>G commonName 3910A>G
VWF_c.3910A>G protEffect p.M1304V
VWF_c.3910A>G phenoCommon von Willebrand Disease, Type 2B
VWF_c.3912_3913insATG commonName 3912insATG
VWF_c.3912_3913insATG protEffect p.M1304insM
VWF_c.3912_3913insATG phenoCommon von Willebrand Disease, Type 2B
VWF_c.3916C>T commonName 3916C>T
VWF_c.3916C>T protEffect p.R1306W
VWF_c.3916C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.3917G>A commonName 3917G>A
VWF_c.3917G>A protEffect p.R1306Q
VWF_c.3917G>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.3917G>T commonName 3917G>T
VWF_c.3917G>T protEffect p.R1306L
VWF_c.3917G>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.3920T>C commonName 3920T>C
VWF_c.3920T>C protEffect p.L1307P
VWF_c.3920T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3922C>T commonName 3922C>T
VWF_c.3922C>T protEffect p.R1308C
VWF_c.3922C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.3923G>A commonName 3923G>A
VWF_c.3923G>A protEffect p.R1308H
VWF_c.3923G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.3923G>C commonName 3923G>C
VWF_c.3923G>C protEffect p.R1308P
VWF_c.3923G>C phenoCommon von Willebrand Disease, Type 2B
VWF_c.3925A>G commonName 3925A>G
VWF_c.3925A>G protEffect p.I1309V
VWF_c.3925A>G phenoCommon von Willebrand Disease, Type 2B
VWF_c.3929C>T commonName 3929C>T
VWF_c.3929C>T protEffect p.S1310F
VWF_c.3929C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.3931C>T commonName 3931C>T
VWF_c.3931C>T protEffect p.Q1311X
VWF_c.3931C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.3939G>C commonName 3939G>C
VWF_c.3939G>C protEffect p.W1313C
VWF_c.3939G>C phenoCommon von Willebrand Disease, Type 2B
VWF_c.3940G>C commonName 3940G>C
VWF_c.3940G>C protEffect p.V1314L
VWF_c.3940G>C phenoCommon von Willebrand Disease, Type 2B
VWF_c.3940G>T commonName 3940G>T
VWF_c.3940G>T protEffect p.V1314F
VWF_c.3940G>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.3941T>A commonName 3941T>A
VWF_c.3941T>A protEffect p.V1314D
VWF_c.3941T>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.3943C>T commonName 3943C>T
VWF_c.3943C>T protEffect p.R1315C
VWF_c.3943C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.3944G>A commonName 3944G>A
VWF_c.3944G>A protEffect p.R1315H
VWF_c.3944G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.3944G>T commonName 3944G>T
VWF_c.3944G>T protEffect p.R1315L
VWF_c.3944G>T phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.3946G>A commonName 3946G>A
VWF_c.3946G>A protEffect p.V1316M
VWF_c.3946G>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.3970G>A commonName 3970G>A
VWF_c.3970G>A protEffect p.G1324S
VWF_c.3970G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.3971G>C commonName 3971G>C
VWF_c.3971G>C protEffect p.G1324A
VWF_c.3971G>C phenoCommon von Willebrand Disease, Type 2M
VWF_c.4010C>T commonName 4010C>T
VWF_c.4010C>T protEffect p.P1337L
VWF_c.4010C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.4013C>G commonName 4013C>G
VWF_c.4013C>G protEffect p.S1338X
VWF_c.4013C>G phenoCommon von Willebrand Disease, Type 3
VWF_c.4021C>T commonName 4021C>T
VWF_c.4021C>T protEffect p.R1341W
VWF_c.4021C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.4022G>A commonName 4022G>A
VWF_c.4022G>A protEffect p.R1341Q
VWF_c.4022G>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.4022G>C commonName 4022G>C
VWF_c.4022G>C protEffect p.R1341P
VWF_c.4022G>C phenoCommon von Willebrand Disease, Type 2B
VWF_c.4022G>T commonName 4022G>T
VWF_c.4022G>T protEffect p.R1341L
VWF_c.4022G>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.4024C>T commonName 4024C>T
VWF_c.4024C>T protEffect p.R1342C
VWF_c.4024C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.4027A>G commonName 4027A>G
VWF_c.4027A>G protEffect p.I1343V
VWF_c.4027A>G phenoCommon von Willebrand Disease, Type 3
VWF_c.4036C>T commonName 4036C>T
VWF_c.4036C>T protEffect p.Q1346X
VWF_c.4036C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.4054_4158dup commonName 4054_4158dup105
VWF_c.4054_4158dup protEffect p.S1352_A1386dup
VWF_c.4054_4158dup phenoCommon von Willebrand Disease, Unclassified
VWF_c.4075G>A commonName 4075G>A
VWF_c.4075G>A protEffect p.E1359K
VWF_c.4075G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.4079T>C commonName 4079T>C
VWF_c.4079T>C protEffect p.V1360A
VWF_c.4079T>C phenoCommon von Willebrand Disease, Type 3
VWF_c.4082T>C commonName 4082T>C
VWF_c.4082T>C protEffect p.L1361S
VWF_c.4082T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.4085A>C commonName 4085A>C
VWF_c.4085A>C protEffect p.K1362T
VWF_c.4085A>C phenoCommon von Willebrand Disease, Type 2M
VWF_c.4092_4093delAC commonName 4092delAC
VWF_c.4092_4093delAC phenoCommon von Willebrand Disease, Type 3
VWF_c.4105T>A commonName 4105T>A
VWF_c.4105T>A protEffect p.F1369I
VWF_c.4105T>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.4115T>G commonName 4115T>G
VWF_c.4115T>G protEffect p.I1372S
VWF_c.4115T>G phenoCommon von Willebrand Disease, Type 2B
VWF_c.4120C>A commonName 4120C>A
VWF_c.4120C>A protEffect p.R1374S
VWF_c.4120C>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.4120C>T commonName 4120C>T
VWF_c.4120C>T protEffect p.R1374C
VWF_c.4120C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.4121G>A commonName 4121G>A
VWF_c.4121G>A protEffect p.R1374H
VWF_c.4121G>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.4121G>T commonName 4121G>T
VWF_c.4121G>T protEffect p.R1374L
VWF_c.4121G>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.4133C>T commonName 4133C>T
VWF_c.4133C>T protEffect p.S1378F
VWF_c.4133C>T phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.4135C>T commonName 4135C>T
VWF_c.4135C>T protEffect p.R1379C
VWF_c.4135C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.4148T>C commonName 4148T>C
VWF_c.4148T>C protEffect p.L1383P
VWF_c.4148T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4148T>G commonName 4148T>G
VWF_c.4148T>G protEffect p.L1383R
VWF_c.4148T>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.4173_4205del commonName 4173-4205 del
VWF_c.4173_4205del protEffect p.R1392_Q1402 del
VWF_c.4173_4205del phenoCommon von Willebrand Disease, Type 2M
VWF_c.4195C>T commonName 4195C>T
VWF_c.4195C>T protEffect p.R1399C
VWF_c.4195C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.4222_4224delAAG commonName 4222_4224delAAG
VWF_c.4222_4224delAAG phenoCommon von Willebrand Disease, Type 2M
VWF_c.4238C>T commonName 4238C>T
VWF_c.4238C>T protEffect p.P1413L
VWF_c.4238C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.4244G>A commonName 4244G>A
VWF_c.4244G>A protEffect p.G1415D
VWF_c.4244G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.4247T>A commonName 4247T>A
VWF_c.4247T>A protEffect p.I1416N
VWF_c.4247T>A phenoCommon von Willebrand Disease, Type 1 (Type 2A)
VWF_c.4263C>G commonName 4263C>G
VWF_c.4263C>G protEffect p.N1421K
VWF_c.4263C>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.4273A>T commonName 4273A>T
VWF_c.4273A>T protEffect p.I1425F
VWF_c.4273A>T phenoCommon von Willebrand Disease, Type 2M
VWF_c.4309G>A commonName 4309G>A
VWF_c.4309G>A protEffect p.A1437T
VWF_c.4309G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.4339G>C commonName 4339G>C
VWF_c.4339G>C protEffect p.E1447Q
VWF_c.4339G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.4368C>A commonName 4368C>A
VWF_c.4368C>A protEffect p.Y1456X
VWF_c.4368C>A phenoCommon von Willebrand Disease, Type 3
VWF_c.4368C>G commonName 4368C>G
VWF_c.4368C>G protEffect p.Y1456X
VWF_c.4368C>G phenoCommon von Willebrand Disease, Type 1
VWF_c.4373G>A commonName 4373G>A
VWF_c.4373G>A protEffect p.C1458Y
VWF_c.4373G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4378C>G commonName 4378C>G
VWF_c.4378C>G protEffect p.L1460V
VWF_c.4378C>G phenoCommon von Willebrand Disease, Type 2B
VWF_c.4382C>A commonName 4382C>A
VWF_c.4382C>A protEffect p.A1461D
VWF_c.4382C>A phenoCommon von Willebrand Disease, Type 2B
VWF_c.4382C>T commonName 4382C>T
VWF_c.4382C>T protEffect p.A1461V
VWF_c.4382C>T phenoCommon von Willebrand Disease, Type 2B
VWF_c.4384C>G commonName 4384C>G
VWF_c.4384C>G protEffect p.P1462A
VWF_c.4384C>G phenoCommon von Willebrand Disease, Unclassified
VWF_c.4399C>T commonName 4399C>T
VWF_c.4399C>T protEffect p.P1467S
VWF_c.4399C>T phenoCommon von Willebrand Disease, Type 2M
VWF_c.4414dupC commonName 4414insC
VWF_c.4414dupC phenoCommon von Willebrand Disease, Type 3
VWF_c.4415_4416insG commonName 4415_4416insG
VWF_c.4415_4416insG phenoCommon von Willebrand Disease, Type 3
VWF_c.4423C>T commonName 4423C>T
VWF_c.4423C>T protEffect p.Q1475X
VWF_c.4423C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.4453delG commonName 4453delG
VWF_c.4453delG phenoCommon von Willebrand Disease, Type 1
VWF_c.4499C>A commonName 4499C>A
VWF_c.4499C>A protEffect p.A1500E
VWF_c.4499C>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4508T>A commonName 4508T>A
VWF_c.4508T>A protEffect p.L1503Q
VWF_c.4508T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4508T>C commonName 4508T>C
VWF_c.4508T>C protEffect p.L1503P
VWF_c.4508T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4508T>G commonName 4508T>G
VWF_c.4508T>G protEffect p.L1503R
VWF_c.4508T>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4513G>C commonName 4513G>C
VWF_c.4513G>C protEffect p.G1505R
VWF_c.4513G>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4514G>A commonName 4514G>A
VWF_c.4514G>A protEffect p.G1505E
VWF_c.4514G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4517C>T commonName 4517C>T
VWF_c.4517C>T protEffect p.S1506L
VWF_c.4517C>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4541T>G commonName 4541T>G
VWF_c.4541T>G protEffect p.F1514C
VWF_c.4541T>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4552A>G commonName 4552A>G
VWF_c.4552A>G protEffect p.K1518E
VWF_c.4552A>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4570delG commonName 4570delG
VWF_c.4570delG protEffect p.V1524fs
VWF_c.4570delG phenoCommon von Willebrand Disease, Type 2A
VWF_c.4604_4612delTCCACGTCA commonName 4604_4612delTCCACGTCA
VWF_c.4604_4612delTCCACGTCA phenoCommon von Willebrand Disease, Type 2A
VWF_c.4616T>A commonName 4616T>A
VWF_c.4616T>A protEffect p.V1539E
VWF_c.4616T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4619T>C commonName 4619T>C
VWF_c.4619T>C protEffect p.L1540P
VWF_c.4619T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4626C>G commonName 4626C>G
VWF_c.4626C>G protEffect p.Y1542X
VWF_c.4626C>G phenoCommon von Willebrand Disease, Type 3
VWF_c.4628C>T commonName 4628C>T
VWF_c.4628C>T protEffect p.S1543F
VWF_c.4628C>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4635delG commonName 4635delG
VWF_c.4635delG phenoCommon von Willebrand Disease, Type 3
VWF_c.4637_4645del commonName 4637-4645del9
VWF_c.4637_4645del phenoCommon von Willebrand Disease, Type 1
VWF_c.4645G>A commonName 4645G>A
VWF_c.4645G>A protEffect p.E1549K
VWF_c.4645G>A phenoCommon von Willebrand Disease, Type 2M
VWF_c.4667A>G commonName 4667A>G
VWF_c.4667A>G protEffect p.Q1556R
VWF_c.4667A>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4685T>C commonName 4685T>C
VWF_c.4685T>C protEffect p.L1562P
VWF_c.4685T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4696C>T commonName 4696C>T
VWF_c.4696C>T protEffect p.R1566X
VWF_c.4696C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.4703T>A commonName 4703T>A
VWF_c.4703T>A protEffect p.I1568N
VWF_c.4703T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4717G>A commonName 4717G>A
VWF_c.4717G>A protEffect p.G1573S
VWF_c.4717G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4735G>A commonName 4735G>A
VWF_c.4735G>A protEffect p.G1579R
VWF_c.4735G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4738C>G commonName 4738C>G
VWF_c.4738C>G protEffect p.L1580V
VWF_c.4738C>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4739T>C commonName 4739T>C
VWF_c.4739T>C protEffect p.L1580P
VWF_c.4739T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4747C>T commonName 4747C>T
VWF_c.4747C>T protEffect p.R1583W
VWF_c.4747C>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4751A>G commonName 4751A>G
VWF_c.4751A>G protEffect p.Y1584C
VWF_c.4751A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.4789C>G commonName 4789C>G
VWF_c.4789C>G protEffect p.R1597G
VWF_c.4789C>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4789C>T commonName 4789C>T
VWF_c.4789C>T protEffect p.R1597W
VWF_c.4789C>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4790G>A commonName 4790G>A
VWF_c.4790G>A protEffect p.R1597Q
VWF_c.4790G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4790G>T commonName 4790G>T
VWF_c.4790G>T protEffect p.R1597L
VWF_c.4790G>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4808T>C commonName 4808T>C
VWF_c.4808T>C protEffect p.L1603P
VWF_c.4808T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.4810G>T commonName 4810G>T
VWF_c.4810G>T protEffect p.V1604F
VWF_c.4810G>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4820T>A commonName 4820T>A
VWF_c.4820T>A protEffect p.V1607D
VWF_c.4820T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4825G>A commonName 4825G>A
VWF_c.4825G>A protEffect p.G1609R
VWF_c.4825G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4837T>C commonName 4837T>C
VWF_c.4837T>C protEffect p.S1613P
VWF_c.4837T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4841A>G commonName 4841A>G
VWF_c.4841A>G protEffect p.D1614G
VWF_c.4841A>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4880C>A commonName 4880C>A
VWF_c.4880C>A protEffect p.P1627H
VWF_c.4880C>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4883T>C commonName 4883T>C
VWF_c.4883T>C protEffect p.I1628T
VWF_c.4883T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4885G>A commonName 4885G>A
VWF_c.4885G>A protEffect p.G1629R
VWF_c.4885G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4886delG commonName 4886delG
VWF_c.4886delG phenoCommon von Willebrand Disease, Type 3
VWF_c.4889T>A commonName 4889T>A
VWF_c.4889T>A protEffect p.V1630E
VWF_c.4889T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4912G>A commonName 4912G>A
VWF_c.4912G>A protEffect p.E1638K
VWF_c.4912G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4916T>C commonName 4916T>C
VWF_c.4916T>C protEffect p.L1639P
VWF_c.4916T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.4942C>T commonName 4942C>T
VWF_c.4942C>T protEffect p.P1648S
VWF_c.4942C>T phenoCommon von Willebrand Disease, Type 2A
VWF_c.4943C>G commonName 4943C>G
VWF_c.4943C>G protEffect p.P1648R
VWF_c.4943C>G phenoCommon von Willebrand Disease, Type 2A
VWF_c.4944delT commonName 4944delT
VWF_c.4944delT phenoCommon von Willebrand Disease, Type 1
VWF_c.4969C>A commonName 4969C>A
VWF_c.4969C>A protEffect p.L1657I
VWF_c.4969C>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4970T>A commonName 4970T>A
VWF_c.4970T>A protEffect p.L1657H
VWF_c.4970T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.4971dupC commonName 4971insC
VWF_c.4971dupC phenoCommon von Willebrand Disease, Type 3
VWF_c.4975C>T commonName 4975C>T
VWF_c.4975C>T protEffect p.R1659X
VWF_c.4975C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.4994T>A commonName 4994T>A
VWF_c.4994T>A protEffect p.V1665E
VWF_c.4994T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.5004G>T commonName 5004G>T
VWF_c.5004G>T protEffect p.R1668S
VWF_c.5004G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.5014G>A commonName 5014G>A
VWF_c.5014G>A protEffect p.G1672R
VWF_c.5014G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.5023_5024delCTinsTA commonName 5023C>T, 5024T>A
VWF_c.5023_5024delCTinsTA phenoCommon von Willebrand Disease, Type 1
VWF_c.5053+1G>A commonName 5053+1G>A
VWF_c.5053+1G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.5053+1G>T commonName 5053+1G>T
VWF_c.5053+1G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.5170+10C>T commonName 5170+10C>T
VWF_c.5170+10C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.5180_5181insTT commonName 5180insTT
VWF_c.5180_5181insTT protEffect p.L1727fs
VWF_c.5180_5181insTT phenoCommon von Willebrand Disease, Type 1
VWF_c.5191T>A commonName 5191T>A
VWF_c.5191T>A protEffect p.S1731T
VWF_c.5191T>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.5235G>T commonName 5235G>T
VWF_c.5235G>T protEffect p.W1745C
VWF_c.5235G>T phenoCommon von Willebrand Disease, Type 2M
VWF_c.5278G>A commonName 5278G>A
VWF_c.5278G>A protEffect p.V1760I
VWF_c.5278G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.5321T>C commonName 5321T>C
VWF_c.5321T>C protEffect p.L1774S
VWF_c.5321T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.5335C>T commonName 5335C>T
VWF_c.5335C>T protEffect p.R1779X
VWF_c.5335C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.5347T>G commonName 5347T>G
VWF_c.5347T>G protEffect p.S1783A
VWF_c.5347T>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.5356C>G commonName 5356C>G
VWF_c.5356C>G protEffect p.H1786D
VWF_c.5356C>G phenoCommon von Willebrand Disease, Type 2M
VWF_c.5380A>G commonName 5380A>G
VWF_c.5380A>G protEffect p.K1794E
VWF_c.5380A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.5453A>G commonName 5453A>G
VWF_c.5453A>G protEffect p.N1818S
VWF_c.5453A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.5465T>G commonName 5465T>G
VWF_c.5465T>G protEffect p.V1822G
VWF_c.5465T>G phenoCommon von Willebrand Disease, Type 1
VWF_c.5471C>A commonName 5471C>A
VWF_c.5471C>A protEffect p.P1824H
VWF_c.5471C>A phenoCommon von Willebrand Disease, Type 1
VWF_c.5545G>A commonName 5545G>A
VWF_c.5545G>A protEffect p.V1850M
VWF_c.5545G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.5557C>T commonName 5557C>T
VWF_c.5557C>T protEffect p.R1853X
VWF_c.5557C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.5890C>A commonName 5890C>A
VWF_c.5890C>A protEffect p.Q1964K
VWF_c.5890C>A phenoCommon von Willebrand Disease, Type 1
VWF_c.5941G>T commonName 5941G>T
VWF_c.5941G>T protEffect p.E1981X
VWF_c.5941G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.6182delT commonName 6182delT
VWF_c.6182delT phenoCommon von Willebrand Disease, Type 3
VWF_c.6187C>T commonName 6187C>T
VWF_c.6187C>T protEffect p.P2063S
VWF_c.6187C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.6311C>T commonName 6311C>T
VWF_c.6311C>T protEffect p.T2104I
VWF_c.6311C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6385G>T commonName 6385G>T
VWF_c.6385G>T protEffect p.E2129X
VWF_c.6385G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.6433C>T commonName 6433C>T
VWF_c.6433C>T protEffect p.P2145S
VWF_c.6433C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6520T>G commonName 6520T>G
VWF_c.6520T>G protEffect p.C2174G
VWF_c.6520T>G phenoCommon von Willebrand Disease, Type 3
VWF_c.6536C>T commonName 6536C>T
VWF_c.6536C>T protEffect p.S2179F
VWF_c.6536C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6554G>A commonName 6554G>A
VWF_c.6554G>A protEffect p.R2185Q
VWF_c.6554G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.6599-20A>T commonName 6599-20A>T
VWF_c.6599-20A>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6620T>C commonName 6620T>C
VWF_c.6620T>C protEffect p.L2207P
VWF_c.6620T>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.6697G>C commonName 6697G>C
VWF_c.6697G>C protEffect p.E2233G
VWF_c.6697G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.6769T>A commonName 6769T>A
VWF_c.6769T>A protEffect p.C2257S
VWF_c.6769T>A phenoCommon von Willebrand Disease, Type 1
VWF_c.6798+1G>T commonName 6798+1G>T
VWF_c.6798+1G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6859C>T commonName 6859C>T
VWF_c.6859C>T protEffect p.R2287W
VWF_c.6859C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.6911G>A commonName 6911G>A
VWF_c.6911G>A protEffect p.C2304Y
VWF_c.6911G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.6932G>A commonName 6932G>A
VWF_c.6932G>A protEffect p.R2311H
VWF_c.6932G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.6938G>A commonName 6938G>A
VWF_c.6938G>A protEffect p.R2313H
VWF_c.6938G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.6977-1G>C commonName 6977-1G>C
VWF_c.6977-1G>C phenoCommon von Willebrand Disease, Type 3
VWF_c.7018T>C commonName 7018T>C
VWF_c.7018T>C protEffect p.C2340R
VWF_c.7018T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.7028G>T commonName 7028G>T
VWF_c.7028G>T protEffect p.G2343V
VWF_c.7028G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.7082-2A>G commonName 7082-2A>G
VWF_c.7082-2A>G phenoCommon von Willebrand Disease, Type 3
VWF_c.7085G>T commonName 7085G>T
VWF_c.7085G>T protEffect p.C2362F
VWF_c.7085G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7125dupC commonName 7125insC
VWF_c.7125dupC phenoCommon von Willebrand Disease, Type 3
VWF_c.7130dupC commonName 7130insC
VWF_c.7130dupC phenoCommon von Willebrand Disease, Type 3
VWF_c.7135C>T commonName 7135C>T
VWF_c.7135C>T protEffect p.R2379C
VWF_c.7135C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.7137dupT commonName 7137insT
VWF_c.7137dupT phenoCommon von Willebrand Disease, Type 3
VWF_c.7176T>G commonName 7176T>G
VWF_c.7176T>G protEffect p.Y2392X
VWF_c.7176T>G phenoCommon von Willebrand Disease, Type 3
VWF_c.7294_7295delGT commonName 7294delGT
VWF_c.7294_7295delGT phenoCommon von Willebrand Disease, Type 3
VWF_c.7300C>T commonName 7300C>T
VWF_c.7300C>T protEffect p.R2434X
VWF_c.7300C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7321G>T commonName 7321G>T
VWF_c.7321G>T protEffect p.G2441C
VWF_c.7321G>T phenoCommon von Willebrand Disease, Type 1
VWF_c.7377_7393dupCGTGATGGGCCTCCGCG commonName 7377_7393dup CGTGATGGGCCTCCGCG
VWF_c.7377_7393dupCGTGATGGGCCTCCGCG phenoCommon von Willebrand Disease, Type 3
VWF_c.7390C>T commonName 7390C>T
VWF_c.7390C>T protEffect p.R2464C
VWF_c.7390C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.7405T>C commonName 7405T>C
VWF_c.7405T>C protEffect p.S2469P
VWF_c.7405T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.7408C>T commonName 7408C>T
VWF_c.7408C>T protEffect p.Q2470X
VWF_c.7408C>T phenoCommon von Willebrand Disease, Unclassified
VWF_c.7430G>A commonName 7430G>A
VWF_c.7430G>A protEffect p.C2477Y
VWF_c.7430G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.7430G>C commonName 7430G>C
VWF_c.7430G>C protEffect p.C2477S
VWF_c.7430G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.7437+1G>A commonName 7437+1G>A
VWF_c.7437+1G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.7437G>A commonName 7437G>A
VWF_c.7437G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.7449_7450insA commonName 7449_7450insA
VWF_c.7449_7450insA phenoCommon von Willebrand Disease, Type 3 (Type 1)
VWF_c.7489T>C commonName 7489T>C
VWF_c.7489T>C protEffect p.S2497P
VWF_c.7489T>C phenoCommon von Willebrand Disease, Type 1
VWF_c.7552G>A commonName 7552G>A
VWF_c.7552G>A protEffect p.G2518S
VWF_c.7552G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.7559A>C commonName 7559A>C
VWF_c.7559A>C protEffect p.Q2520P
VWF_c.7559A>C phenoCommon von Willebrand Disease, Type 1
VWF_c.7599T>A commonName 7599T>A
VWF_c.7599T>A protEffect p.C2533X
VWF_c.7599T>A phenoCommon von Willebrand Disease, Unclassified
VWF_c.7603C>T commonName 7603C>T
VWF_c.7603C>T protEffect p.R2535X
VWF_c.7603C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7630C>T commonName 7630C>T
VWF_c.7630C>T protEffect p.Q2544X
VWF_c.7630C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7636A>T commonName 7636A>T
VWF_c.7636A>T protEffect p.N2546Y
VWF_c.7636A>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7664_7665insAG commonName 7664_7665insAG
VWF_c.7664_7665insAG phenoCommon von Willebrand Disease, Type 3
VWF_c.7674dupC commonName 7674insC
VWF_c.7674dupC phenoCommon von Willebrand Disease, Type 3
VWF_c.7683delT commonName 7683delT
VWF_c.7683delT phenoCommon von Willebrand Disease, Type 3
VWF_c.7729+7C>T commonName 7729+7C>T
VWF_c.7729+7C>T phenoCommon von Willebrand Disease, Type 3
VWF_c.7730-1G>C commonName 7730-1G>C
VWF_c.7730-1G>C phenoCommon von Willebrand Disease, Type 1 / 3
VWF_c.7940C>T commonName 7940C>T
VWF_c.7940C>T protEffect p.T2647M
VWF_c.7940C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.8012G>A commonName 8012G>A
VWF_c.8012G>A protEffect p.C2671Y
VWF_c.8012G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.8078G>A commonName 8078G>A
VWF_c.8078G>A protEffect p.C2693Y
VWF_c.8078G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.8155+3G>C commonName 8155+3G>C
VWF_c.8155+3G>C phenoCommon von Willebrand Disease, Type 3
VWF_c.8155+3G>T commonName 8155+3G>T
VWF_c.8155+3G>T phenoCommon von Willebrand Disease, Type 3
VWF_c.8164C>G commonName 8164C>G
VWF_c.8164C>G protEffect p.P2722A
VWF_c.8164C>G phenoCommon von Willebrand Disease, Type 1
VWF_c.8187_8194del commonName 8187-8194del8
VWF_c.8187_8194del protEffect p.A2729fs
VWF_c.8187_8194del phenoCommon von Willebrand Disease, Type 2A
VWF_c.8216G>A commonName 8216G>A
VWF_c.8216G>A protEffect p.C2739Y
VWF_c.8216G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.8241_8249del commonName 8241del9
VWF_c.8241_8249del phenoCommon von Willebrand Disease, Type 3
VWF_c.8262T>G commonName 8262T>G
VWF_c.8262T>G protEffect p.C2754W
VWF_c.8262T>G phenoCommon von Willebrand Disease, Type 3
VWF_c.8311T>A commonName 8311T>A
VWF_c.8311T>A protEffect p.C2771S
VWF_c.8311T>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.8312G>A commonName 8312G>A
VWF_c.8312G>A protEffect p.C2771Y
VWF_c.8312G>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.8316delC commonName 8316delC
VWF_c.8316delC protEffect p.S2772fs
VWF_c.8316delC phenoCommon von Willebrand Disease, Type 2A
VWF_c.8317T>C commonName 8317T>C
VWF_c.8317T>C protEffect p.C2773R
VWF_c.8317T>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.8318G>C commonName 8318G>C
VWF_c.8318G>C protEffect p.C2773S
VWF_c.8318G>C phenoCommon von Willebrand Disease, Type 2A
VWF_c.8327C>T commonName 8327C>T
VWF_c.8327C>T protEffect p.P2776L
VWF_c.8327C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.8341C>T commonName 8341C>T
VWF_c.8341C>T protEffect p.P2781S
VWF_c.8341C>T phenoCommon von Willebrand Disease, Type 2M
VWF_c.8402C>A commonName 8402C>A
VWF_c.8402C>A protEffect p.A2801D
VWF_c.8402C>A phenoCommon von Willebrand Disease, Type 2A
VWF_c.8411G>A commonName 8411G>A
VWF_c.8411G>A protEffect p.C2804Y
VWF_c.8411G>A phenoCommon von Willebrand Disease, Type 3
VWF_c.8412_8413insTCCCC commonName 8412insTCCCC
VWF_c.8412_8413insTCCCC protEffect p.C2804fs
VWF_c.8412_8413insTCCCC phenoCommon von Willebrand Disease, Type 1
VWF_c.8416T>C commonName 8416T>C
VWF_c.8416T>C protEffect p.C2806R
VWF_c.8416T>C phenoCommon von Willebrand Disease, Unclassified
VWF_c.-44001_8442*35068del commonName -44001_8442*35068del
VWF_c.-44001_8442*35068del phenoCommon von Willebrand Disease, Type 3
VWF_c.-30071_56+3445del commonName -30071_56+3445del
VWF_c.-30071_56+3445del phenoCommon von Willebrand Disease, Type 3
VWF_c.221-977_532+7059del commonName 221-977_532+7059del
VWF_c.221-977_532+7059del phenoCommon von Willebrand Disease, Type 1 / 3
VWF_c.532+1267_2187-251del commonName 532+1267_2187-251del
VWF_c.532+1267_2187-251del phenoCommon von Willebrand Disease, Type 3
VWF_c.3380-298_5843-1385del commonName 3380-298_5843-1385del
VWF_c.3380-298_5843-1385del phenoCommon von Willebrand Disease, Unclassified
VWF_c.5621-269_6799-1161del commonName 5621-269_6799-1161del
VWF_c.5621-269_6799-1161del phenoCommon von Willebrand Disease, Type 3
VWF_c.7081+88_7287+1044del commonName 7081+88_7287+1044del
VWF_c.7081+88_7287+1044del phenoCommon von Willebrand Disease, Type 3
VWF_c.-1522_-1510delCATTGTTTCCTTT commonName -1522del CATTGTTTCCTTT
VWF_c.-1522_-1510delCATTGTTTCCTTT phenoCommon von Willebrand Disease, Type 1
VWF_c.-1665G>C commonName -1665G>C
VWF_c.-1665G>C phenoCommon von Willebrand Disease, Type 1
VWF_c.-1873A>G commonName -1873A>G
VWF_c.-1873A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.-1886A>C commonName -1886A>C
VWF_c.-1886A>C phenoCommon von Willebrand Disease, Type 1
VWF_c.-1896C>T commonName -1896C>T
VWF_c.-1896C>T phenoCommon von Willebrand Disease, Type 1
VWF_c.-2328T>G commonName -2328T>G
VWF_c.-2328T>G phenoCommon von Willebrand Disease, Type 1
VWF_c.-2487G>A commonName -2487G>A
VWF_c.-2487G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.-2535G>A commonName -2535G>A
VWF_c.-2535G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.-2615A>G commonName -2615A>G
VWF_c.-2615A>G phenoCommon von Willebrand Disease, Type 1
VWF_c.-2641G>A commonName -2641G>A
VWF_c.-2641G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.-2715G>A commonName -2715G>A
VWF_c.-2715G>A phenoCommon von Willebrand Disease, Type 1
VWF_c.-2731C>T commonName -2731C>T
VWF_c.-2731C>T phenoCommon von Willebrand Disease, Type 1